Research

Latest research by "Hadassah Children"

General Pediatrics

1. Aran A, Vasertile N, Gross I, Mendelovic J, Pollak Y. Medical Decisions of Pediatric Residents Turn Riskier after a 24-Hour Call with No Sleep. J of Medical Decision Making. In press (accepted 28/12/15).

2. Benish-Weisman M, Kerem E, Knafo-Noam A, Belsky J. The Moderating Role of Genetics: The Effect of Length of Hospitalization on Children's Internalizing and Externalizing Behaviors. Front Psychiatry. 2015 Aug 17;6:109.

3. Berger I, Slobodin O, Ofek-Shlomai N, Gadassai H, Cassuto H, Shuchman R. ADHD in the classroom - measuring opinions and needs. (2015). Merit Research Journal of Education and Review. 3(12):310-317.

4. Breuer O, Shoseyov D, Kerem E, Brooks R. Implementation of a Policy Change: Replacement of Nebulizers by Spacers for the Treatment of Asthma in Children. Isr Med Assoc J. 2015 Jul;17(7):421-4.

5. Chen S, Shamriz O, Toker O, Fridlender ZG, Tal Y. Recurrent Eosinophilic Pneumonia in a Patient with Isolated Immunoglobulin M Deficiency and Celiac Disease. Isr Med Assoc J. 2015 Aug;17(8):526-7.

6. Dinur-Schejter Y, Krauss AC, Erlich O, Gorelik N, Yahel A, Porat I, Weintraub M, Stein J, Zaidman I, Stepensky P. (2015). Bone Marrow Transplantation for Non-Malignant Diseases Using Treosulfan-Based Conditioning. Pediatr Blood Cancer 62:299–304

7. Gileles-Hillel A, Shoseyov D, Polacheck I, Korem M, Kerem E, Cohen-Cymberknoh M. (2015). Association of chronic C. albicans respiratory infection with a more severe lung disease in patients with cystic fibrosis. Pediatr Pulmonol. 2015 Nov;50(11):1082-9.

8. Gross I, Siedner-Weintraub Y, Simckes A, Gillis D. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):943-6.

9. Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2015 Oct 22.[Epub ahead of print]

10. Hirsch HJ, Gross I, Pollak Y, Eldar-Geva T, Gross-Tsur V. Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome. PLoS One. 2015 Sep 3;10(9)

11. Lavi E, Breuer O. The Impact of Prior Antibiotic Therapy on Outcomes in Children Hospitalized for Community-Acquired Pneumonia. Curr Infect Dis Rep. 2016 Jan;18(1):3.

12. Lavi E, Rekhtman D, Berkun Y, Wexler I . Sudden onset unexplained encephalopathy in infants: think of cannabis intoxication. Eur J Pediatr. 2016 Mar;175(3):417-420. Epub 2015 Oct 6.

13. Lavi E, Shoseyov D, Simanovsky N, Brooks R . Systemic steroid treatment for severe expanding pneumococcal pneumonia. Case Rep Pediatr. Epub 2015 Feb 26.

14. Lefler S, Cohen MA, Kantor G, Cheishvili D, Even A, Birger A, Turetsky T, Gil Y, Even-Ram S, Aizenman E, Bashir N, Maayan C, Razin A, Reubinoff BE, Weil M. Familial Dysautonomia (FD) Human Embryonic Stem Cell Derived PNS Neurons Reveal that Synaptic Vesicular and Neuronal Transport Genes Are Directly or Indirectly Affected by IKBKAP Downregulation. PLoS One. 2015 Oct 5;10(10)

15. Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS. Laughter is not always funny: breath-holding spells in familial dysautonomia. Clin Pediatr (Phila). 2015 Feb;54(2):174-8.

16. Masarwa R, Shamriz O, Zilkha A, Braun J, Kleid DM, Weintraub M, Schulz A, Stepensky P. Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension. J Pediatr Hematol Oncol. 2015 Oct;37(7):573-4.

17. NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P. (2015) Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. J Clin Immunol. 35:356-60.

18. Natsheh J, Drozdinsky G, Simanovsky N, Lamdan R, Erlich O, Gorelik N, Or R, Weintraub M, Stepensky P. Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. Pediatr Blood Cancer. 2015 Oct 20. [Epub ahead of print]

19. Rottenstreich A, Wexler ID, Abu-Libdeh A, Berkun Y. (2015) Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone. Clin Pediatr (Phila). 54:1215-7

20. Rousso SZ, Shamriz O, Zilkha A, Braun J, Averbuch D, Or R, Weintraub M, Revel-Vilk S, Stepensky P. Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center. J Pediatr Hematol Oncol. 2015 Jul;37(5):e295-300.

21. Segal Z, Cohen MJ, Engelhard D, Tenenbaum A, Simckes AM, Benenson S, Stepensky P, Averbuch D. Infants under two months of age with urinary tract infections are showing increasing resistance to empirical and oral antibiotics. Acta Paediatr. 2015 Dec 28. [Epub ahead of print].

22. Shamriz O , Engelhard D, Temper V, Revel-Vilk S, Benenson S, Brooks R, Tenenbaum A, Stepensky P, Koplewitz B, Kaufmann M, Averbuch D. Infections caused by Fusobacterium in children: a 14-year single-center experience. Infection. 2015 Dec;43(6):663-70.

23. Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, Begin M, Yaacov B, Cinamon Y, Koplewitz BZ, Vromen A, Elpeleg O, Smith BC. Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. Gastroenterology. 2015 Mar;148(3):533-536.e4.

24. Zelig U, Barlev E, Bar O, Gross I, Flomen F, Mordechai S, Kapelushnik J, Nathan I, Kashtan H, Wasserberg N, Madhala-Givon O. Early detection of breast cancer using total biochemical analysis of peripheral blood components: a preliminary study. BMC Cancer. 2015 May 15;15:408

Neonatology

1. Banne E, Meiner V, Shaag A, Katz-Brull R, Gamliel A, Korman S, Horowitz Cederboim S, Plesser Duvdevani M, Frumkin A, Zilkha A, Kapuller V, Arbell A, Cohen E, Eventov-Friedman S. 2015. Transaldolase deficiency: a new case expands the phenotypic spectrum. JIMD Rep, Aug 4. [Epub ahead of print]

2. Bassler D, Plavka R, Shinwell ES, Hallman M, Jarreau PH, Carnielli V, Van den Anker JN, Meisner C, Engel C, Schwab M, Halliday HL, Poets CF; NEUROSIS Trial Group. Early Inhaled Budesonide for the Prevention of Bronchopulmonary Dysplasia. N Engl J Med. 2015 Oct 15;373(16):1497-506.

3. Berger I, Slobodin O, Ofek-Shlomai N, Gadassai H, Cassuto H, Shuchman R. ADHD in the classroom - measuring opinions and needs. (2015). Merit Research Journal of Education and Review. 3(12):310-317.

4. Barshtein G, Livshitz L, Shvartsman LD, Ofek Shlomai N, Yedgar S, Arbell D. (2015) Polystyrene nanoparticles activate erythrocyte aggregation and adhesion to endothelial cells. Cell Biochem Biophys. Online July 2015.

5. Dior U, Margalit-Calderon R, Eventov-Friedman S, Ergaz Z, Porat S, Gil M, Kogan L, Smadar Eventov-Friedman (2015). Very High Intrapartum Fever In Term Pregnancies and Adverse Obstetric and Neonatal Outcomes. Neonatology 2016;109(1):62-8.

6. Ergaz Z, Neeman-azulay M, Weinstein-Fudim L, Weksler-Zangen S, Shoshani-Dror D, Szyf M, Ornoy A (2015). Diabetes in the Cohen rat intensifies the fetal pancreatic damage induced by the diabetogenic high sucrose low copper diet. Birth defects research B. 2016 Jan 7.

7. Eventov-Friedman S, Frumkin A, Bar-Oz B, Raas-Rothschild A. 2015. Mosaic trisomy 14 in a newborn with multiple malformations: when chromosomal microarray is a clue to diagnosis. Israel Medical Association Journal 17(7):459-60

8. Eventov-Friedman S, Zisk-Rony RY, Nosko S, Bar-Oz B. 2015. Maternal age and outcome of preterm infants at discharge from the neonatal intensive care unit. Int J Gynecol Obstet. 2016 Feb;132(2):196-9. Epub 2015 Oct 4.

9. Gordon O, Abu-Leil C, Almagor Y, Cohen E, Margulis A, Arbell D, Bar-Oz B, EventovFriedman S. 2015. Extremely low birth weight infant born with extensive abdominal cutis aplasia. Israel Medical Association Journal 17;719-21.

10. Kabiri D, Hants Y, Raz-Yarkoni T, Shaulof E, Eventov-Friedman S, Paltiel O, Nir-Paz R, Aljamal WC, Ezra Y. 2015. Antepartum Membrane Stripping in GBS Carriers, Is It Safe? (The STRIP-G Study). PLoS One. 2015 Dec 31;10(12)

11. Ofek Shlomai N, Rao S, Patole S. (2015) Efficacy of interventions to improve hand hygiene compliance in neonatal units: a systematic review and meta-analysis. Eur J Clin Microbiol Infect Dis. 34(5):887-897.

12. Ornoy A, Weinstein-Fudim L, Ergaz Z (2015) Prenatal factors associated with autism spectrum disorder (ASD). Reprod Toxicol. May 27 Aug 15;56:155-69.

13. Petropoulos S, Guillemin C, Ergaz Zivanit, Dimov S, Suderman M, Weinstein-Fudim L, Ornoy A, Szyf M (2015). Gestational Diabetes Alters Offspring DNA Methylation Profiles in Human and Rat: Identification of Key Pathways involved in Endocrine System Disorders, Insulin Signaling, Diabetes Signaling and IL-K Signaling. Endocrinology Jun;156(6):2222-38 (Original article)

14. Shaylor R, Ginosar Y, Avidan A, Eventov-Friedman, Amison N, Weiniger CF. 2015. Pre-delivery remifentanil infusion for placenta accreta cesarean delivery under general anesthesia: an observational study. The Journal of Maternal-Fetal & Neonatal Medicine Nov 2:1-5.

15. Yaari M, Millo I, Harel A, Friedlander E, Bar-Oz B, Eventov-Friedman S, Mankuta D, Yirmiya N: 2015. Predicting maternal resolution of preterm birth at one month corrected age. Infancy, October 2015.

Hematology - Oncology

1. Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S (2015); Inborn Errors Working Party of the EBMT. The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica. 100(7):978-88.

2. Dinur-Schejter Y, Krauss AC, Erlich O, Gorelik N, Yahel A, Porat I, Weintraub M, Stein J, Zaidman I, Stepensky P. (2015). Bone Marrow Transplantation for Non-Malignant Diseases Using Treosulfan-Based Conditioning. Pediatr Blood Cancer 62:299–304

3. Dubnov-Raz G, Azar M, Reuveny R, Katz U, Weintraub M, Constantini N. Changes in fitness are associated with changes in body composition and bone health in children after cancer (2015). Acta Pediatr 104(10):1055-61

4. Fried I, Rom-Gross E, Finegold M, Simanovsky N, Revel-Vilk S, Ben-Neriah Z, Weintraub M, Pappo O, Meir K (2015). Concomitant massive hepatic teratoma, hypofibrinogenemia, and adrenal neuroblastoma in an infant: case report. Pediatr Dev Pathol 18:252-6.

5. Fruchtman Y, Strauss T, Rubinstein M, Ben Harush M, Revel-Vilk S, Kapelushnik J, Paret G, Kenet G. (2015) Skin Necrosis and Purpura Fulminans in Children With and Without Thrombophilia-A Tertiary Center's Experience. Pediatr Hematol Oncol. 32:505-10.

6. Gerrits AJ, Leven EA, Frelinger AL 3rd, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, Michelson AD, Bussel JB. (2015) Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood. 126(11):1367-8.

7. Horev L, Unger S, Molho-Pessach V, Meir T, Maly A, Stepensky P, Zamir M, Keller B, Babay S, Warnatz K, Ramot Y, Zlotogorski A (2015). Generalized verrucosis and HPV-3 susceptibility associated with CD4 T-cell lymphopenia caused by inherited human interleukin-7 deficiency. J Am Acad Dermatol 72(6):1082-4.

8. Kuhlen M, Hönscheid A, Loizou L, Nabhani S, Fischer U, Stepensky P, Schaper J, Klapper W, Siepermann M, Schuster F, Meisel R, Borkhardt A. De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.Clin Immunol. 2015 Oct 31;162:27-30.

9. Lebel A, Yacobovich J, Krasnov T, Koren A, Levin C, Kaplinsky C, Revel-Vilk S, Laor R, Attias D, Barak AB, Shtager D, Stein J, Kuperman A, Miskin H, Dgany O, Giri N, Alter BP, Tamary H. (2015) Genetic analysis and clinical picture of severe congenital neutropenia in Israel. Pediatr Blood Cancer 62:103-8

10. Ma CS, Wong N, Rao G, Avery DT, Torpy J, Hambridge T, Bustamante J, Okada S, Stoddard JL, Deenick EK, Pelham SJ, Payne K, Boisson-Dupuis S, Puel A, Kobayashi M, Arkwright PD, Kilic SS, El Baghdadi J, Nonoyama S, Minegishi Y, Mahdaviani SA, Mansouri D, Bousfiha A, Blincoe AK, French MA, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Smart JM, Fulcher DA, Cook MC, Phan TG, Stepensky P, Boztug K, Kansu A, İkincioğullari A, Baumann U, Beier R, Roscioli T, Ziegler JB, Gray P, Picard C, Grimbacher B, Warnatz K, Holland SM, Casanova JL, Uzel G, Tangye SG (2015). Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. J Allergy Clin Immunol 136(4):993-1006

11. Masarwa R, Shamriz O, Zilkha A, Braun J, Kleid DM, Weintraub M, Schulz A, Stepensky P. Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension. J Pediatr Hematol Oncol. 2015 Oct;37(7):573-4.

12. Nabhani S, Ginzel S, Miskin H, Revel-Vilk S, Harlev D, Fleckenstein B, Hönscheid A, Oommen PT, Kuhlen M, Thiele R, Laws HJ, Borkhardt A, Stepensky P, Fischer U. (2015) Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. Haematologica. 100:1189-98.

13. NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P. (2015) Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. J Clin Immunol. 35:356-60.

14. Natsheh J, Drozdinsky G, Simanovsky N, Lamdan R, Erlich O, Gorelik N, Or R, Weintraub M, Stepensky P. Improved Outcomes of Hematopoietic Stem Cell Transplantation in Patients With Infantile Malignant Osteopetrosis Using Fludarabine-Based Conditioning. Pediatr Blood Cancer. 2015 Oct 20. [Epub ahead of print]

15. Polen E, Weintraub M, Stoffer C, Jaffe DH, Burger A, Revel-Vilk S. (2015). Post-Thrombotic Syndrome after Central Venous Catheter Removal in Childhood Cancer Survivors: A Prospective Cohort Study. Pediatr Blood Cancer 62:285–290.

16. Revel-Vilk S, Fischer Ute, Keller B, Nabhani S, Gámez-Díaz L, Rensing-Ehl A, Gombert M, Hönscheid A, Saleh H, Shaag A, Borkhardt A, Grimbacher B, Warnatz K, Elpeleg O, Stepensky P. (2015). Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. Clin Immunol. 2015 Jul; 159(1):84-92.

17. Rottenstreich A, Revel-Vilk S, Bloom AI, Kalish Y. (2015) Inferior vena cava (IVC) filters in children: A 10-year single center experience. Pediatr Blood Cancer. 62:1974-8.

18. Rousso SZ, Shamriz O, Zilkha A, Braun J, Averbuch D, Or R, Weintraub M, Revel-Vilk S, Stepensky P. Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center. J Pediatr Hematol Oncol. 2015 Jul;37(5):e295-300.

19. Segal Z, Cohen MJ, Engelhard D, Tenenbaum A, Simckes AM, Benenson S, Stepensky P, Averbuch D. Infants under two months of age with urinary tract infections are showing increasing resistance to empirical and oral antibiotics. Acta Paediatr. 2015 Dec 28. [Epub ahead of print].

20. Shamriz O , Engelhard D, Temper V, Revel-Vilk S, Benenson S, Brooks R, Tenenbaum A, Stepensky P, Koplewitz B, Kaufmann M, Averbuch D. Infections caused by Fusobacterium in children: a 14-year single-center experience. Infection. 2015 Dec;43(6):663-70.

21. Shteyer E, Nitzan I, Godfarb A, Hemed NT, Revel-Vilk S. (2015) Activity of cytochrome P450 1A2 (CYP1A2) in relation to hepatic iron accumulation in transfusion dependent β-thalassemia major patients . Vox Sanginus 108:268-73.

22. Simanovsky N, Revel-Vilk S, Weintraub M, Hiller N. Association between renal cystic lesions and bilateral Wilms’ tumours (2015). Eur Radiol.

23. Stepensky P, Keller B, Abuzaitoun O, Shaag A, Yaacov B, Unger S, Seidl M, Rizzi M, Weintraub M, Elpeleg O, Warnatz K (2015). Extending the clinical and immunological phenotype of human Interleukin-21 receptor deficiency. Hematologica 100(2):e72-6

24. Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Br¨ummendorf TH, Fuchs S, Zenke S, Firat E, Molho Pessach V, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S. (2015) Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood 125:753-61.

25. Stepensky P, Wolach B, Gavrieli R, Rousso S, Ben Ami T, Goldman V, Rozovsky K, Hanna S, Etzioni A, Weintraub M. Leukocyte adhesion deficiency type III: clinical features and treatment with stem cell transplantation. J Pediatr Hematol Oncol 2015. May;37(4):264-8.

26. Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.PLoS Genet. 2015 Jun 23;11(6)

27. Torchia J, Picard D, Lafay-Cousin L, Hawkins CE, Kim SK, Letourneau L, Ra YS, Ho KC, Chan TS, Sin-Chan P, Dunham CP, Yip S, Ng HK, Lu JQ, Albrecht S, Pimentel J, Chan JA, Somers GR, Zielenska M, Faria CC, Roque L, Baskin B, Birks D, Foreman N, Strother D, Klekner A, Garami M, Hauser P, Hortobágyi T, Bognár L, Wilson B, Hukin J, Carret AS, Van Meter TE, Nakamura H, Toledano H, Fried I, Fults D, Wataya T, Fryer C, Eisenstat DD, Scheineman K, Johnston D, Michaud J, Zelcer S, Hammond R, Ramsay DA, Fleming AJ, Lulla RR, Fangusaro JR, Sirachainan N, Larbcharoensub N, Hongeng S, Barakzai MA, Montpetit A, Stephens D, Grundy RG, Schüller U, Nicolaides T, Tihan T, Phillips J, Taylor MD, Rutka JT, Dirks P, Bader GD, Warmuth-Metz M, Rutkowski S, Pietsch T, Judkins AR, Jabado N, Bouffet E, Huang A (2015). Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncol 16(5):569-82.

28. Tsukerman P, Eisenstein EM, Chavkin M, Schmiedel D, Wong E, Werner M, Yaacov B, Averbuch D, Molho-Pessach V,Stepensky P, Kaynan N, Bar-On Y, Seidel E, Yamin R, Sagi I, Elpeleg O, Mandelboim O. Cytokine secretion and NK cell activity in human ADAM17 deficiency. Oncotarget. 2015 Dec 16. [Epub ahead of print]

29. Wilson RP, Ives ML, Rao G, Lau A, Payne K, Kobayashi M, Arkwright PD, Peake J, Wong M, Adelstein S, Smart JM, French MA, Fulcher DA, Picard C, Bustamante J, Boisson-Dupuis S, Gray P, Stepensky P, Warnatz K, Freeman AF, Rossjohn J, McCluskey J, Holland SM, Casanova JL, Uzel G, Ma CS, Tangye SG, Deenick EK (2015). STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function. J Exp Med 212(6):855-64.

30. Yacobovich J, Ben-Ami T, Tameemi A, Tamary H, Goldstein G, Weintraub M, Yaniv I, Toren A, Kenet G, Revel-Vilk S. (2015) Patient and Central Venous Catheter Related Risk Factors for Bloodstream Infections in Children Receiving Chemotherapy. Pediatr Blood Cancer 62:471–476

Gastroenterology

1. Abramovitch S, Sharvit E, Weisman Y, Brazowski E, Reif S. Vitamin D can prevent establishment of liver fibrosis but cannot ameliorate it. Am J Physiol 308:112-120, 2015

2. Bodewes FA, Verkade HJ, Taminiau JA, Borowitz D, Wilschanski M; Working group Cystic Fibrosis and Pancreatic Disease of the European Society for Paediatric Gastroenterology Hepatology and Nutrition (ESPGHAN). Cystic fibrosis and the role of gastrointestinal outcome measures in the new era of therapeutic CFTR modulation. J Cyst Fibros. 2015 Mar;14(2):169-77.

3. Glatstein M, Morag S, Scolnik D, Alper A, Reif S, Grisaru-Soen G. Acute Mastoiditis Before Pneumococcal Vaccination: The Experience of a Large Tertiary Care Pediatric Hospital. Am J Ther. [Epub ahead of print]

4. Glatstein M, Oren A, Amarilyio G, Scolnik D, Ben Tov A, Yahav A, Alper A, Reif S. Clinical characterization of Idiopathic intracranial hypertension in children: The experience of a large tertiary care pediatric center. Pediatr Emerg Care 31:6-9,2015

5. Heuschkel RB, Gottrand F, Devarajan K, Poole H, Callan J, Dias JA, Karkelis S, Papadopoulou A, Husby S, Ruemmele F, Schäppi MG, Wilschanski M, Lionetti P, Orel R, Tovar J, Thapar N, Vandenplas Y; European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. ESPGHAN position paper on management of percutaneous endoscopic gastrostomy in children and adolescents. J Pediatr Gastroenterol Nutr. 2015 Jan;60(1):131-41.

6. Lawrance IC, Rogler G, Bamias G, Breynaert C, Florholmen J, Pellino G, Reif S, Speca S, Latella G. Cellular and molecular mediators of intestinal fibrosis. Journal of Crohn's and Colitis – (Ahead of print)

7. Lerner A, Reif S. Non nutritional environmental factors associated with celiac disease: the Infectome. Infection and Autoimmunity(Ahead of print)

8. Leung AJ, Persad S, Slae M, Abdelradi A, Kluthe C, Shirton L, Danchuk R, Persad R, Meddings J, Huynh HQ. Intestinal and gastric permeability in children with eosinophilic esophagitis and reflux esophagitis. J Pediatr Gastroenterol Nutr. 2015 Feb;60(2):236-9.

9. Milshtein NY, Paret G, Reif S, Halutz O, Grisaru-Soen G. Acute Childhood Encephalitis at 2 Tertiary Care Children's Hospitals in Israel: Etiology and Clinical Characteristics. Pediatr Emerg Care. 32:82-86,2016

10. Mizrahi I, Mazeh H, Grinbaum R, Beglaibter N, Wilschanski M, Pavlov V, Adileh M, Stojadinovic A, Avital I, Gure AO, Halle D, Nissan A. Colon Cancer Associated Transcript-1 (CCAT1) Expression in Adenocarcinoma of the Stomach. J Cancer. 2015 Jan 1;6(2):105-10.

11. Nobili V, Reif S. Vitamin D and liver fibrosis: let's start soon before it's too late. Gut 64:698-699, 2015

12. Rosen C, Shezen E, Aronovich A, Klionsky YZ, Yaakov Y, Assayag M, Biton IE, Tal O, Shakhar G, Ben-Hur H, Shneider D, Vaknin Z, Sadan O, Evron S, Freud E, Shoseyov D, Wilschanski M, Berkman N, Fibbe WE, Hagin D, Hillel-Karniel C, Krentsis IM, Bachar-Lustig E, Reisner Y. Preconditioning allows engraftment of mouse and human embryonic lung cells, enabling lung repair in mice.Nat Med. 2015 Aug;21(8):869-79.

13. Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL,Wilschanski M, Yen E, Uc A. Pediatric chronic pancreatitis is associated with genetic risk factors and substantial disease burden. J Pediatr. 2015 Apr;166(4):890-6.

14. Shmaya Y, Eilat-Adar S, Leitner Y, Reif S, Gabis L. Nutritional deficiencies and overweight prevalence among children with autism spectrum disorder. Res Dev Disabil 38:1-6, 2015

15. Slae M, Persad R, Leung AJ, Gabr R, Brocks D, Huynh HQ. Role of Environmental Factors in the Development of Pediatric Eosinophilic Esophagitis. Dig Dis Sci. 2015 Nov;60(11):3364-72.

16. Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H (2015). The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening. J Cyst Fibros. 2015 Sep 16. [Epub ahead of print]

17. Taylor CJ, Chen K, Horvath K, Hughes D, Lowe ME, Mehta D, Orabi AI, Screws J, Thomson M, Van Biervliet S, Verkade HJ, Husain SZ, Wilschanski M. ESPGHAN and NASPGHAN Report on the Assessment of Exocrine Pancreatic Function and Pancreatitis in Children. J Pediatr Gastroenterol Nutr. 2015 Jul;61(1):144-53.

18. Ting J, Wilson L, Schwarzenberg SJ, Himes R, Barth B, Bellin MD, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Husain SZ, Kumar S, Morinville VD, Lowe ME, Mbbs CY, Pohl JF, Troendle D, Usatin D, Werlin SL, Wilschanski M, Heyman MB, Uc A. Direct Costs of Acute Recurrent and Chronic Pancreatitis in Children in the INSPPIRE Registry. J Pediatr Gastroenterol Nutr. 2015 Dec 7. [Epub ahead of print].

19. Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. Genetic and electrophysiological characteristics of recurrent acute pancreatitis. J Pediatr Gastroenterol Nutr. 2015 May;60(5):675-9.

20. Wilschanski M. Nutrition in cystic fibrosis. World Rev Nutr Diet. 2015;113:244-9.

Neurology

1. Abdulhaq UN, Daana M, Dor T, Fellig Y, Eylon S, Schuelke M, Shaag A, Elpeleg O, Edvardson S. Nemaline body myopathy caused by a novel mutation in Troponin T1 (TNNT1). Muscle Nerve. 2015 Aug 22. [Epub ahead of print]

2. Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. Eur J Hum Genet. 2015 Feb;23(2):159-64.

3. Berger I, Remington A, Leitner Y, Leviton A. (2015). Brain Development and the attention spectrum. Frontiers in Human Neuroscience. 9:23.

4. Berger I, Slobodin O, Ofek-Shlomai N, Gadassai H, Cassuto H, Shuchman R. ADHD in the classroom - measuring opinions and needs. (2015). Merit Research Journal of Education and Review. 3(12):310-317.

5. Damseh N, Danson CM, Al-Ashhab M, Abu-Libdeh B, Gallon M, Sharma K, Yaacov B, Coulthard E, Caldwell MA, Edvardson S, Cullen PJ, Elpeleg O. A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration. Neurogenetics. 2015 Jul;16(3):215-21.

6. Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. J Med Genet. 2015 Aug;52(8):541-7.

7. Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, Shaag A, Ungermann C, Elpeleg O. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. J Med Genet. 2015 Nov;52(11):749-53.

8. Heimer G, Oz-Levi D, Eyal E, Edvardson S, Nissenkorn A, Ruzzo EK, Szeinberg A, Maayan C, Mai-Zahav M, Efrati O, Pras E, Reznik-Wolf H, Lancet D, Goldstein DB, Anikster Y, Shalev SA, Elpeleg O, Ben Zeev B. TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability. Eur J Paediatr Neurol. 2015 Oct 22.[Epub ahead of print]

9. Helman G, Caldovic L, Whitehead MT, Simons C, Brockmann K, Edvardson S, Bai R, Moroni I, Taylor JM, Van Haren K; SDH Study Group, Taft RJ, Vanderver A, van der Knaap MS. MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy. Ann Neurol. 2015 Dec 8 [Epub ahead of print]

10. Hoffman Y, Grossman E, Berger I, Zivotofsky AZ. (2015). Attentional Advantages for attentional deficit adults. Neuropsychology. 29(6):882-887.

11. Licht T*, Dor-Wollman T*, Ben-Zvi A, Rothe G, Keshet E. Vessel maturation schedule determines vulnerability to neuronal injuries of prematurity. J Clin Invest. 2015 March 2; 125(3): 1319–1328. Accompanied by an editorial. *equal contributor

12. Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N. A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Dec;52(12):840-7.

13. Sheffer R, Bennett-Back O, Yaacov B, Edvardson S, Gomori M, Werner M, Fahham D, Anteby I, Frumkin A, Meiner V, Elpeleg O. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene. Neurogenetics. 2015 Jan;16(1):23-6.

14. Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, Begin M, Yaacov B, Cinamon Y, Koplewitz BZ, Vromen A, Elpeleg O, Smith BC. Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. Gastroenterology. 2015 Mar;148(3):533-536.e4.

15. Slobodin O, Cassuto H, Berger I. (2015). Age-related changes in distractibility: Developmental trajectory of sustained attention in Attention Deficit Hyperactivity Disorder. J of Attention Disorders – 2015 Mar 19. [Epub ahead of print]

16. Slobodin O, van de Glind G, Franck J, Berger I, Yachin N, Ivanov I, van den Brink W. (2015). The Role of different aspects of impulsivity as independent risk factors for substance use disorders in patients with ADHD: a review. Current Drug Abuse Review. 8(2):119-33.

17. Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec;116(4):252-9.

18. Zach S, Inglis V, Fox O, Berger I, Stahl A. The effect of physical activity on spatial perception and attention in early childhood. (2015). Cognitive Development. 36:31-39.

Pulmonology

1. Auerbach A, Kerem E, Assous MV, Picard E, Bar-Meir M. Is infection with hypermutable Pseudomonas aeruginosa clinically significant? J Cyst Fibros. 2015 May;14(3):347-52.

2. Amirav I, Mussaffi H, Roth Y, Schmidts M, Omran H, Werner C. Israeli PCD Consortium Investigators. A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis. BMC Res Notes. 2015 Mar 8;8:71.

3. Breuer O, Blich O, Cohen-Cymberknoh M, Averbuch D, Kharasch S, Shoseyov D, Kerem E. Antibiotic treatment for children hospitalized with community-acquired pneumonia after oral therapy. Pediatr Pulmonol. 2015 May;50(5):495-502.

4. Breuer O, Shoseyov D, Kerem E, Brooks R. Implementation of a Policy Change: Replacement of Nebulizers by Spacers for the Treatment of Asthma in Children. Isr Med Assoc J. 2015 Jul;17(7):421-4.

5. Breuer O, Shteyer E, Wilschanski M, Perles Z, Cohen-Cymberknoh, M, Kerem E, Shoseyov D. Hepatopulmonary syndrome in patients with CF and liver disease. Chest. 2016;149(2):e35-e38 [EPUB ahead of print]

6. Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Große-Onnebrink J, Olbrich H, Cindrić S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Haeffner K, Omran H. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Respir Cell Mol Biol. 2015 Oct;53(4):563-73.

7. Gileles-Hillel A, Shoseyov D, Polacheck I, Korem M, Kerem E, Cohen-Cymberknoh M. (2015). Association of chronic C. albicans respiratory infection with a more severe lung disease in patients with cystic fibrosis. Pediatr Pulmonol. 2015 Nov;50(11):1082-9.

8. Hevroni A, Goldman A, Kerem E. High Altitude: Physiology and Pathophysiology in Adults and Children: A Review. Clinical Pulmonary Medicine, Volume 22, Number 3, 1 May 2015, pp. 105-113(9)

9. Hevroni A, Goldman A, Springer C. Infant pulmonary function testing in chronic pneumonitis of infancy due to surfactant protein C mutation. Pediatr Pulmonol. 2015 Jun;50(6):E17-23.

10. Kerem E, Cohen-Cymberknoh M. (2015). Disparities in Cystic Fibrosis Care and Outcome: Socioeconomic State and Beyond. Editorial. Chest

11. Lavi E, Breuer O. The Impact of Prior Antibiotic Therapy on Outcomes in Children Hospitalized for Community-Acquired Pneumonia. Curr Infect Dis Rep. 2016 Jan;18(1):3.

12. Lavi E, Shoseyov D, Simanovsky N, Brooks R . Systemic steroid treatment for severe expanding pneumococcal pneumonia. Case Rep Pediatr. Epub 2015 Feb 26.

13. Levine H, Cohen-Cymberknoh M, Klein N, Hoshen M, Mussaffi H, Stafler P, Breuer O, Kerem E, Blau H (2016). Reversible airway obstruction in cystic fibrosis: common, but not associated with characteristics of asthma. J Cyst Fibros. 2016 Jan 28 [Epub ahead of print]

14. Pugatsch T, Shoseyov D, Cohen-Cymberknoh M, Hayut B, Armoni S, Griese M, Kerem E. Adherence pattern to study drugs in clinical trials by patients with cystic fibrosis. Pediatr Pulmonol. 2016 Feb;51(2):143-6. Epub 2015 Nov 19.

15. Rosen C, Shezen E, Aronovich A, Klionsky YZ, Yaakov Y, Assayag M, Biton IE, Tal O, Shakhar G, Ben-Hur H, Shneider D, Vaknin Z, Sadan O, Evron S, Freud E, Shoseyov D, Wilschanski M, Berkman N, Fibbe WE, Hagin D, Hillel-Karniel C, Krentsis IM, Bachar-Lustig E, Reisner Y. Preconditioning allows engraftment of mouse and human embryonic lung cells, enabling lung repair in mice.Nat Med. 2015 Aug;21(8):869-79.

16. Stuart Elborn J, Geller DE, Conrad D, Aaron SD, Smyth AR, Fischer R, Kerem E, Bell SC, Loutit JS, Dudley MN, Morgan EE, VanDevanter DR, Flume PA. A phase 3, open-label, randomized trial to evaluate the safety and efficacy of levofloxacin inhalation solution (APT-1026) versus tobramycin inhalation solution in stable cystic fibrosis patients. J Cyst Fibros. 2015 Jul;14(4):507-14

17. Stafler P, Mei-Zahav M, Wilschanski M, Mussaffi H, Efrati O, Lavie M, Shoseyov D, Cohen-Cymberknoh M, Gur M, Bentur L, Livnat G, Aviram M, Alkrinawi S, Picard E, Prais D, Steuer G, Inbar O, Kerem E, Blau H (2015). The impact of a national population carrier screening program on cystic fibrosis birth rate and age at diagnosis: Implications for newborn screening. J Cyst Fibros. 2015 Sep 16. [Epub ahead of print]

18. Tsabari R, Iron Elyashar H, Cohen Cymberknowh M, Breuer O, Armoni S, Livnat G, Kerem E, Zangen DH. (2015). CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation. J Cyst Fibros. 2015 Nov 4. [Epub ahead of print]

19. Werlin S, Konikoff FM, Halpern Z, Barkay O, Yerushalmi B, Broide E, Santo E, Shamir R, Shaoul R, Shteyer E, Yaakov Y, Cohen M, Kerem E, Ruszniewski P, Masson E, Ferec C, Wilschanski M. Genetic and electrophysiological characteristics of recurrent acute pancreatitis. J Pediatr Gastroenterol Nutr. 2015 May;60(5):675-9.

Infectious diseases

1. Breuer O, Blich O, Cohen-Cymberknoh M, Averbuch D, Kharasch S, Shoseyov D, Kerem E. Antibiotic treatment for children hospitalized with community-acquired pneumonia after oral therapy. Pediatr Pulmonol. 2015 May;50(5):495-502.

2. Cohen A, Bont L, Engelhard D, Moore E, Fernández D, Kreisberg-Greenblatt R, Oved K, Eden E, Hays JP. A multifaceted 'omics' approach for addressing the challenge of antimicrobial resistance. Future Microbiol. 2015;10(3):365-76.

3. Grossman Z, Avidor B, Mor Z, Chowers M, Levy I, Shahar E, Riesenberg K, Sthoeger Z, Maayan S, Shao W, Lorber M,Olstein-Pops K, Elbirt D, Elinav H, Asher I, Averbuch D, Istomin V, Gottesman BS, Kedem E, Girshengorn S, Kra-Oz Z,Shemer Avni Y, Radian Sade S, Turner D, Maldarelli F. A Population-Structured HIV Epidemic in Israel: Roles of Risk and Ethnicity. PLoS One. 2015 Aug 24;10(8)

4. Kunin M, Engelhard D, Thomas S, Ashworth M, Piterman L. Challenges of the Pandemic Response in Primary Care during Pre-Vaccination Period: A Qualitative Study. Isr J Health Policy Res. 2015 Oct 15;4:32.

5. Makranz C, Qutteineh H, Bin H, Lustig Y, Gomori JM, Honig A, Bayya Ael-R, Moses AE, Ben-Hur T, Averbuch D, Eichel R,Nir-Paz R. (2015). Sandfly virus seroconversion associated with neurologic presentation. Neurol Neuroimmunol Neuroinflamm. Dec 10;3(1):e184.

6. NaserEddin A, Shamriz O, Keller B, Alzyoud RM, Unger S, Fisch P, Prus E, Berkun Y, Averbuch D, Shaag A, Wahadneh AM, Conley ME, Warnatz K, Elpeleg O, Stepensky P. (2015) Enteroviral Infection in a Patient with BLNK Adaptor Protein Deficiency. J Clin Immunol. 35:356-60.

7. Okada S, Markle J, Deenick E, Mele F, Averbuch D, Lagos M, Alzahrani M, Halwani R, Wong N, Ma C, Soudais C, Marzouqa H, Schamma J, Gonzalez M, Martinez-Baricarte R, Okada C, Migaud M, Deswarte C, Jabot-Hanin F, Itan Y, Boisson B, Kobayashi M, Picard C, Breton S, Lantz O, Abel L, Engelhard D, Al-Muhsen S, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye S and Casanova JL. IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. (Equal contribution with the group of second co-authors). Science. 2015 Aug 7;349(6248):606-13

8. Orasch C, Averbuch D, Mikulska M, Cordonnier C, Livermore DM, Gyssens IC, Klyasova G, Engelhard D, Kern W, Viscoli C, Akova M, Marchetti O, on behalf of the 4th European Conference on Infection in Leukemia (ECIL-4), Discontinuation of Empirical Antibiotic Therapy in Neutropenic Leukaemia Patients with Fever of Unknown Origin: it is Ethical. Clinical Microbiology and Infection. 2015, Mar;21(3):e25-7;

9. Rousso SZ, Shamriz O, Zilkha A, Braun J, Averbuch D, Or R, Weintraub M, Revel-Vilk S, Stepensky P. Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center. J Pediatr Hematol Oncol. 2015 Jul;37(5):e295-300.

10. Segal Z, Cohen MJ, Engelhard D, Tenenbaum A, Simckes AM, Benenson S, Stepensky P, Averbuch D. Infants under two months of age with urinary tract infections are showing increasing resistance to empirical and oral antibiotics. Acta Paediatr. 2015 Dec 28. [Epub ahead of print].

11. Shamriz O , Engelhard D, Temper V, Revel-Vilk S, Benenson S, Brooks R, Tenenbaum A, Stepensky P, Koplewitz B, Kaufmann M, Averbuch D. Infections caused by Fusobacterium in children: a 14-year single-center experience. Infection. 2015 Dec;43(6):663-70.

12. Tsukerman P, Eisenstein EM, Chavkin M, Schmiedel D, Wong E, Werner M, Yaacov B, Averbuch D, Molho-Pessach V,Stepensky P, Kaynan N, Bar-On Y, Seidel E, Yamin R, Sagi I, Elpeleg O, Mandelboim OPI. Cytokine secretion and NK cell activity in human ADAM17 deficiency. Oncotarget. 2015 Dec 16. [Epub ahead of print]

Endocrinology

1. Gross I, Siedner-Weintraub Y, Simckes A, Gillis D. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):943-6.

2. Karavani G, Stric D, Levin S, Edri S, Gillis D. (2015) Normal limits for serum thyrotropin vary greatly depending on method. Clin. Endocrinol. In press.

3. Rottenstreich A, Wexler ID, Abu-Libdeh A, Berkun Y. (2015) Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone. Clin Pediatr (Phila). 54:1215-7

4. Strich, D. Teomim, R., Gillis, D. (2015) The basal insulin dose; A lesson from prolonged fasting in young individuals with type 1. Pediatr. Diabetes. 16:629-633.

5. Szalat A, Shahar M, Schpitzen S, Nachmias B, Munter G, Gillis D, Durst R, Mevorach D, Leitersdorf E, Meiner V, Rosen H. (2015) Pitfalls in Identification of patients with Calcium-Sensing Receptor Genetic Defect: a Cohort-Study Leading to Characterization of a Novel I32V Loss-of-Function Mutation. Endocrine. 48:444-53.

6. Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D and Zangen D.(2015) Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med. Genet 52(6):391-9

7. Tsabari R, Iron Elyashar H, Cohen Cymberknowh M, Breuer O, Armoni S, Livnat G, Kerem E, Zangen DH. (2015). CFTR potentiator therapy ameliorates impaired insulin secretion in CF patients with a gating mutation. J Cyst Fibros. 2015 Nov 4. [Epub ahead of print]

8. Weinberg-Shukron A, Abu-Libdeh A, Zhadeh F, Carmel L, Kogot-Levin A, Kamal L, Kanaan M, Zeligson S, Renbaum P, Levy-Lahad E, Zangen D. (2015) Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress. J Med Genet. 52(9):636-41

9. Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D . (2015)A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Inves 125(11):4295-304.

Reumatology

1. Abdulhag UN, Liebster D, Eisenstein EM, Berkun Y. (2015) Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia. Isr Med Assoc J. 17:455-6.

2. Berkun Y, Lewy H, Padeh S, Laron Z. (2015) Seasonality of birth of patients with juvenile idiopathic arthritis. Clin Exp Rheumatol. 33:122-6.

3. Jabbari A, Dai Z, Xing L, Cerise JE, Ramot Y, Berkun Y, Sanchez GA, Goldbach-Mansky R, Christiano AM, Clynes R, Zlotogorski A. (2015) Reversal of Alopecia Areata Following Treatment With the JAK1/2 Inhibitor Baricitinib. EBioMedicine. 26:351-5

4. Rottenstreich A, Machol K, Eisenstein EM, Padeh S, Klar A, Livneh A, Berkun Y (2015). Behçet's disease and cerebral sinus vein thrombosis in children: a case study and review of the literature. Clin Exp Rheumatol. 33 (6 Suppl 94):S163-8.

5. Tsukerman P, Eisenstein EM, Chavkin M, Schmiedel D, Wong E, Werner M, Yaacov B, Averbuch D, Molho-Pessach V,Stepensky P, Kaynan N, Bar-On Y, Seidel E, Yamin R, Sagi I, Elpeleg O, Mandelboim OPI. Cytokine secretion and NK cell activity in human ADAM17 deficiency. Oncotarget. 2015 Dec 16. [Epub ahead of print]

Intensive care

1. Masarwa R, Shamriz O, Zilkha A, Braun J, Kleid DM, Weintraub M, Schulz A, Stepensky P. Bosentan-induced Reduction in Cyclosporine-A Levels: A Rare Interaction in an Infant With Osteopetrosis and Severe Pulmonary Hyperetension. J Pediatr Hematol Oncol. 2015 Oct;37(7):573-4.

2. Rousso SZ, Shamriz O, Zilkha A, Braun J, Averbuch D, Or R, Weintraub M, Revel-Vilk S, Stepensky P. Hematopoietic Stem Cell Transplantations for Primary Immune Deficiencies: 3 Decades of Experience From a Tertiary Medical Center. J Pediatr Hematol Oncol. 2015 Jul;37(5):e295-300.

Cardiology

1. Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N. A human laterality disorder caused by a homozygous deleterious mutation in MMP21. J Med Genet. 2015 Dec;52(12):840-7.

2. Ta-Shma API, Perles ZPI, Yaacov BC, Werner MT, Frumkin AC, Rein AJC, Elpeleg OPI. (2015). A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet 23(9):1262-5.

Nephrology

1. Gross I, Siedner-Weintraub Y, Simckes A, Gillis D. Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):943-6.

2. Segal Z, Cohen MJ, Engelhard D, Tenenbaum A, Simckes AM, Benenson S, Stepensky P, Averbuch D. Infants under two months of age with urinary tract infections are showing increasing resistance to empirical and oral antibiotics. Acta Paediatr. 2015 Dec 28. [Epub ahead of print].

Emergency medicine

1. Lavi E, Rekhtman D, Berkun Y, Wexler I . Sudden onset unexplained encephalopathy in infants: think of cannabis intoxication. Eur J Pediatr. 2016 Mar;175(3):417-420. Epub 2015 Oct 6.

2014

Orasch C, Averbuch D, Mikulska M, Cordonnier C, Livermore DM, Gyssens IC, Klyasova G, Engelhard D, Kern W, Viscoli C, Akova M, Marchetti O; for the 4th European Conference on Infections in Leukemia (ECIL-4); a joint venture of Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation (IDWP-EBMT); Infectious Diseases Group of the European Organization for Research and Treatment of Cancer (IDG-EORTC); International Immunocompromised Host Society (ICHS); European Leukemia Net (ELN) and European Study Group on Infections in Immunocompromised Hosts of the European Society for Clinical Microbiology and Infectious Diseases (ESGICH-ESCMID). Discontinuation of empirical antibiotic therapy in neutropenic leukaemia patients with fever of unknown origin is ethical. Clin Microbiol Infect. 2014 Dec 18. pii: S1198-743X(14)00076-7. doi: 10.1016/j.cmi.2014.10.014. [Epub ahead of print] PubMed PMID: 25658572.

Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A. Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden. J Pediatr. 2014 Dec 30. pii: S0022-3476(14)01071-3. doi: 10.1016/j.jpeds.2014.11.019. [Epub ahead of print] PubMed PMID: 25556020.

Orasch C, Averbuch D, Mikulska M, Cordonnier C, Livermore DM, Gyssens IC, Klyasova G, Engelhard D, Kern W, Viscoli C, Akova M, Marchetti O; for the 4th European Conference on Infections in Leukemia (ECIL-4); a joint venture of Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation (IDWP-EBMT); Infectious Diseases Group of the European Organization for Research and Treatment of Cancer (IDG-EORTC); International Immunocompromised Host Society (ICHS); European Leukemia Net (ELN) and European Study Group on Infections in Immunocompromised Hosts of the European Society for Clinical Microbiology and Infectious Diseases (ESGICH-ESCMID). Discontinuation of empirical antibiotic therapy in neutropenic leukaemia patients with fever of unknown origin is ethical. Clin Microbiol Infect. 2014 Dec 18. pii: S1198-743X(14)00076-7. doi: 10.1016/j.cmi.2014.10.014. [Epub ahead of print] PubMed PMID: 25658572.

Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A. Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden. J Pediatr. 2014 Dec 30. pii: S0022-3476(14)01071-3. doi: 10.1016/j.jpeds.2014.11.019. [Epub ahead of print] PubMed PMID: 25556020.

Rottenstreich A, Wexler ID, Abu-Libdeh A, Berkun Y. Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone. Clin Pediatr (Phila). 2014 Dec 21. pii: 0009922814563927. [Epub ahead of print] PubMed PMID: 25533884.

Shteyer E, Nitzan I, Godfarb A, Hemed N, Revel-Vilk S. Activity of cytochrome P450 1A2 in relation to hepatic iron accumulation in transfusion-dependent β-thalassaemia major patients. Vox Sang. 2014 Dec 4. doi: 10.1111/vox.12223. [Epub ahead of print] PubMed PMID: 25471486.

Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O. A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet. 2014 Dec 3. doi: 10.1038/ejhg.2014.265. [Epub ahead of print] PubMed PMI: 25469542.

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Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, Elpeleg O. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet. 2014 Sep;51(9):581-6. doi: 10.1136/jmedgenet-2014-102282. Epub 2014 Jul 22. PubMed PMID: 25053765.

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Kerem E, Webb AK. European Cystic Fibrosis Society Standards of Care: a road map to improve CF outcome. J Cyst Fibros. 2014 Jul;13(4):357-8. doi: 10.1016/j.jcf.2014.05.003. Epub 2014 May 29. PubMed PMID: 24880531.

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Shiri S, Tenenbaum A, Sapir-Budnero O, Wexler ID. Elevating hope among children with Attention deficit and hyperactivity disorder through virtual reality. Front Hum Neurosci. 2014 May 7;8:198. doi: 10.3389/fnhum.2014.00198. eCollection 2014. PubMed PMID: 24847233; PubMed Central PMCID: PMC4019862.

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Gordon O, Almagor Y, Fridler D, Mandel A, Qutteineh H, Yanir A, Reif S, Vilk SR. De novo neonatal antiphospholipid syndrome: a case report and review of the literature. Semin Arthritis Rheum. 2014 Oct;44(2):241-5. doi: 10.1016/j.semarthrit.2014.04.003. Epub 2014 Apr 13. PubMed PMID: 24830792.

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Maeir A, Fisher O, Bar-Ilan RT, Boas N, Berger I, Landau YE. Effectiveness of Cognitive-Functional (Cog-Fun) occupational therapy intervention for young children with attention deficit hyperactivity disorder: a controlled study. Am J Occup Ther. 2014 May-Jun;68(3):260-7. doi: 10.5014/ajot.2014.011700. PubMed PMID: 24797189.

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Haimov-Kochman R, Berger I. Cognitive functions of regularly cycling women may differ throughout the month, depending on sex hormone status; a possible explanation to conflicting results of studies of ADHD in females. Front Hum Neurosci. 2014 Apr 1;8:191. doi: 10.3389/fnhum.2014.00191. eCollection 2014. Review. PubMed PMID: 24744721; PubMed Central PMCID: PMC3978296.

Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014 Jul;18(4):495-501. doi: 10.1016/j.ejpn.2014.03.009. Epub 2014 Apr 8. PubMed PMID: 24742911.

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Latella G, Rogler G, Bamias G, Breynaert C, Florholmen J, Pellino G, Reif S, Speca S, Lawrance IC. Results of the 4th scientific workshop of the ECCO (I): pathophysiology of intestinal fibrosis in IBD. J Crohns Colitis. 2014 Oct 1;8(10):1147-65. doi: 10.1016/j.crohns.2014.03.008. Epub 2014 Apr 14. PubMed PMID: 24731838.

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Tenenbaum A, Hanna RN, Averbuch D, Wexler ID, Chavkin M, Merrick J. Hospitalization of children with down syndrome. Front Public Health. 2014 Mar 20;2:22. doi: 10.3389/fpubh.2014.00022. eCollection 2014. PubMed PMID: 24688981; PubMed Central PMCID: PMC3960574.

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Cohen E, Chatzigeorgiou M, Husson SJ, Steuer-Costa W, Gottschalk A, Schafer WR, Treinin M. Caenorhabditis elegans nicotinic acetylcholine receptors are required for nociception. Mol Cell Neurosci. 2014 Mar;59:85-96. doi: 10.1016/j.mcn.2014.02.001. Epub 2014 Feb 8. PubMed PMID: 24518198; PubMed Central PMCID: PMC4258610.

Cohen MJ, Levy I, Barak O, Bloom AI, Fernández-Ruiz M, Di Maio M, Perrone F, Poon RT, Shouval D, Yau T, Shibolet O. Trans-arterial chemo-embolization is safe and effective for elderly advanced hepatocellular carcinoma patients: results from an international database. Liver Int. 2014 Aug;34(7):1109-17. doi: 10.1111/liv.12486. Epub 2014 Apr 4. PubMed PMID: 24512125.

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Kolevzon N, Nasereddin A, Naik S, Yavin E, Dzikowski R. Use of peptide nucleic acids to manipulate gene expression in the malaria parasite Plasmodium falciparum. PLoS One. 2014 Jan 22;9(1):e86802. doi: 10.1371/journal.pone.0086802. eCollection 2014. PubMed PMID: 24466246; PubMed Central PMCID: PMC3899306.

Eisenstein EM, Berkun Y. Diagnosis and classification of juvenile idiopathic arthritis. J Autoimmun. 2014 Feb-Mar;48-49:31-3. doi: 10.1016/j.jaut.2014.01.009. Epub 2014 Jan 21. Review. PubMed PMID: 24461383.

Ofek Shlomai N, Reichman B, Lerner-Geva L, Boyko V, Bar-Oz B. Population-based study shows improved postnatal growth in preterm very-low-birthweight infants between 1995 and 2010. Acta Paediatr. 2014 May;103(5):498-503. doi: 10.1111/apa.12569. Epub 2014 Feb 21. PubMed PMID: 24460697.

Ben-Chetrit E, Wiener-Well Y, Shulman LM, Cohen MJ, Elinav H, Sofer D, Feldman I, Marva E, Wolf DG. Coxsackievirus A6-related hand foot and mouth disease: skin manifestations in a cluster of adult patients. J Clin Virol. 2014 Mar;59(3):201-3. doi: 10.1016/j.jcv.2013.12.012. Epub 2014 Jan 7. PubMed PMID: 24457116.

Berkun Y, Eisenstein EM. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev. 2014 Apr-May;13(4-5):388-90. doi: 10.1016/j.autrev.2014.01.045. Epub 2014 Jan 11. Review. PubMed PMID: 24424166.

Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ, Elpeleg O. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13. PubMed PMID: 24421281.

Papadopoulou A, Koletzko S, Heuschkel R, Dias JA, Allen KJ, Murch SH, Chong S, Gottrand F, Husby S, Lionetti P, Mearin ML, Ruemmele FM, Schäppi MG, Staiano A, Wilschanski M, Vandenplas Y; ESPGHAN Eosinophilic Esophagitis Working Group and the Gastroenterology Committee. Management guidelines of eosinophilic esophagitis in childhood. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):107-18. doi: 10.1097/MPG.0b013e3182a80be1. PubMed PMID: 24378521.

Mikulska M, Viscoli C, Orasch C, Livermore DM, Averbuch D, Cordonnier C, Akova M; Fourth European Conference on Infections in Leukemia Group (ECIL-4), a joint venture of EBMT, EORTC, ICHS, ELN and ESGICH/ESCMID. Aetiology and resistance in bacteraemias among adult and paediatric haematology and cancer patients. J Infect. 2014 Apr;68(4):321-31. doi: 10.1016/j.jinf.2013.12.006. Epub 2013 Dec 24. Review. PubMed PMID: 24370562.

Avital A, Hevroni A, Godfrey S, Cohen S, Maayan C, Nusair S, Nogee LM, Springer C. Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol. 2014 Nov;49(11):1097-105. doi: 10.1002/ppul.22971. Epub 2013 Dec 17. PubMed PMID: 24347114.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6. PubMed PMID: 24319291.

Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J. Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A. Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29. PubMed PMID: 24287434.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. PubMed PMID: 24281368; PubMed Central PMCID: PMC4060119.

Cheishvili D, Laiba E, Rekhtman D, Claman A, Razin A, Maayan C. Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients. Auton Neurosci. 2014 Feb;180:59-65. doi: 10.1016/j.autneu.2013.10.009. Epub 2013 Nov 1. PubMed PMID: 24268683.

Berger I, Cassuto H. The effect of environmental distractors incorporation into a CPT on sustained attention and ADHD diagnosis among adolescents. J Neurosci Methods. 2014 Jan 30;222:62-8. doi: 10.1016/j.jneumeth.2013.10.012. Epub 2013 Nov 8. PubMed PMID: 24211249.

Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23. PubMed PMID: 24161820.

Stocki D, Matot I, Einav S, Eventov-Friedman S, Ginosar Y, Weiniger CF. A randomized controlled trial of the efficacy and respiratory effects of patient-controlled intravenous remifentanil analgesia and patient-controlled epidural analgesia in laboring women. Anesth Analg. 2014 Mar;118(3):589-97. doi: 10.1213/ANE.0b013e3182a7cd1b. PubMed PMID: 24149580.

Dior UP, Kogan L, Calderon-Margalit R, Burger A, Amsallem H, Elchalal U, Eventov-Friedman S, Ergaz Z, Ezra Y. The association of maternal intrapartum subfebrile temperature and adverse obstetric and neonatal outcomes. Paediatr Perinat Epidemiol. 2014 Jan;28(1):39-47. doi: 10.1111/ppe.12090. Epub 2013 Oct 10. PubMed PMID: 24118104.

Eventov-Friedman S, Bar-Oz B, Zisk-Rony RY. Using a safe taxi service to transport newborn babies home from hospital. Acta Paediatr. 2014 Jan;103(1):57-61. doi: 10.1111/apa.12431. Epub 2013 Oct 31. PubMed PMID: 24112313.

Cohen MJ, Block CS, Moses AE, Nir-Paz R. Exposure to ertapenem is possibly associated with Pseudomonas aeruginosa antibiotic resistance. Clin Microbiol Infect. 2014 Mar;20(3):O188-96. doi: 10.1111/1469-0691.12362. Epub 2013 Sep 18. PubMed PMID: 24102767.

Naehrlich L, Ballmann M, Davies J, Derichs N, Gonska T, Hjelte L, van Konigsbruggen-Rietschel S, Leal T, Melotti P, Middleton P, Tümmler B, Vermeulen F, Wilschanski M; ECFS Diagnostic Network Working Group. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cyst Fibros. 2014 Jan;13(1):24-8. doi: 10.1016/j.jcf.2013.08.006. Epub 2013 Sep 7. PubMed PMID: 24022019.

Slae M, Heshin-Bekenstein M, Simckes A, Heimer G, Engelhard D, Eisenstein EM. Female polysomy-X and systemic lupus erythematosus. Semin Arthritis Rheum. 2014 Feb;43(4):508-12. doi: 10.1016/j.semarthrit.2013.07.014. Epub 2013 Sep 5. PubMed PMID: 24012046.

Shany E, Meledin I, Gilat S, Yogev H, Golan A, Berger I. In and ex utero maturation of premature infants electroencephalographic indices. Clin Neurophysiol. 2014 Feb;125(2):270-6. doi: 10.1016/j.clinph.2013.06.185. Epub 2013 Jul 30. PubMed PMID: 23910986.

Ergaz Z, Simanovsky N, Vromen A, Meir K, Bar-Oz B. Amyand's hernia with perforated appendicitis in a premature infant. Eur J Pediatr. 2014 Apr;173(4):541-3. doi: 10.1007/s00431-013-2038-z. Epub 2013 May 24. PubMed PMID: 23703466.

Kerem E, Viviani L, Zolin A, MacNeill S, Hatziagorou E, Ellemunter H, Drevinek P, Gulmans V, Krivec U, Olesen H; ECFS Patient Registry Steering Group. Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS patient registry. Eur Respir J. 2014 Jan;43(1):125-33. doi: 10.1183/09031936.00166412. Epub 2013 Apr 18. PubMed PMID: 23598952.

Fried I, Huang A, Bartels U, Tabori U, Laperriere N, Dirks P, Bouffet E. Chronic residual lesions in metastatic medulloblastoma patients. J Pediatr Hematol Oncol. 2014 Jan;36(1):71-5. doi: 10.1097/MPH.0b013e3182843b40. PubMed PMID: 23528902.

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May 2013

On May 29th, an article written by Prof. Dan Engelhard and Dr. Hamam Ghanaiem was published in the Journal of Pediatrics: "A normally healthy two year old presented with a round, non-tender skin lesion on her buttock, its center black and ulcerated, its margins red. Lab tests including a blood count and inflammation indicators are normal...", and the cause was unknown.

Prof. Engelhard and Dr. Ghanaiem found the answer to this medical riddle.

What was the cause?

For the answer:

For a link to the article, click here.

To download the article as it appeared in the journal, click here.

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On Tuesday, 7.5.2013, the second Children's Ward Research Day in memory of Dr. Ido Yatziv took place. During the event many studies by "Hadassah Children" researchers were showcased and awards were presented to outstanding staff members for extraordinary achievements.

For a link to the news story in "Hadassah Children" News, click here

For the abstracts of the studies (in Hebrew) presented in the research day, arranged by order of speakers in the event, click here

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April 2013

On 17.4.2013, a clinical presentation took place at the Hadassah Ein Kerem Children's department. a clinical presentation includes a general and research-related review ofa certain medical subject by an expert. This presentation's subject was about Liver Diseases: Past, present and future, and the review was held by Dr. Eyal Shteyer, from the Pediatric Gastroenterology and Liver Diseases Unit. To view the video from the clinical review (it is in Hebrew), Click Here (it will open in Windows Media Player).

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March 2013

A new study by "Hadassah Children" researchers which was published lately (19.03.13) presented an imporatnt discovery about the rare disease of Primary Ciliary Dyskinesia (PCD). Our researchers succeeded in isolating a single gene and mark it as responsible for a critical part in the development of PCD, a respiratory disease. The study's conclusion was that a mutation in the discovered gene leads to the development of the disease.

Journal .pone .0059436.g 002

Link to the Abstract in Hebrew:

A new gene which causes a disturbance in respiratory system celiary movement was discovered at "Hadassah Children"

Link to the full article (in English):

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0059436

2015

Maayan C, Katz E, Begin M, Yuvchev I, Kharasch VS. Laughter is not always funny: breath-holding spells in familial dysautonomia. Clin Pediatr (Phila). 2015 Feb;54(2):174-8. doi: 10.1177/0009922814563512. Epub 2014 Dec 23. PubMed PMID: 25539948.

Shemesh A, Levin A, Katzenell V, Ben Itzhak J, Levinson O, Zini A, Solomonov M. Prevalence of 3- and 4-rooted First and Second Mandibular Molars in the Israeli Population. J Endod. 2015 Mar;41(3):338-42. doi: 10.1016/j.joen.2014.11.006. Epub 2014 Dec 18. PubMed PMID: 25534073.

Shteyer E, Edvardson S, Wynia-Smith SL, Pierri CL, Zangen T, Hashavya S, Begin M, Yaacov B, Cinamon Y, Koplewitz BZ, Vromen A, Elpeleg O, Smith BC. Truncating mutation in the nitric oxide synthase 1 gene is associated with infantile achalasia. Gastroenterology. 2015 Mar;148(3):533-536.e4. doi: 10.1053/j.gastro.2014.11.044. Epub 2014 Dec 3. PubMed PMID: 25479138.

Levin A, Pappo O, Israeli E. Whitish intestinal epithelium and numerous intussusceptions. Gastroenterology. 2015 Jan;148(1):22-3. doi: 10.1053/j.gastro.2014.07.050. Epub 2014 Nov 21. PubMed PMID: 25450072.

Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brümmendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S. Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. Blood. 2015 Jan 29;125(5):753-61. doi: 10.1182/blood-2014-08-593202. Epub 2014 Nov 20. PubMed PMID: 25414442.

Stepensky P, Keller B, Abuzaitoun O, Shaag A, Yaacov B, Unger S, Seidl M, Rizzi M, Weintraub M, Elpeleg O, Warnatz K. Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency. Haematologica. 2015 Feb;100(2):e72-6. doi: 10.3324/haematol.2014.112508. Epub 2014 Nov 14. PubMed PMID: 25398835.

Sheffer R, Bennett-Back O, Yaacov B, Edvardson S, Gomori M, Werner M, Fahham D, Anteby I, Frumkin A, Meiner V, Elpeleg O. Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene. Neurogenetics. 2015 Jan;16(1):23-6. doi: 10.1007/s10048-014-0428-7. Epub 2014 Oct 22. PubMed PMID: 25338135.

Kadmon I, Halag H, Dinur I, Katz A, Zohar H, Damari M, Cohen M, Levin E, Kislev L. Perceptions of Israeli women with breast cancer regarding the role of the Breast Care Nurse throughout all stages of treatment: a multi center study. Eur J Oncol Nurs. 2015 Feb;19(1):38-43. doi: 10.1016/j.ejon.2014.07.014. Epub 2014 Sep 18. PubMed PMID: 25241930.

Abramovitch S, Sharvit E, Weisman Y, Bentov A, Brazowski E, Cohen G, Volovelsky O, Reif S. Vitamin D inhibits development of liver fibrosis in an animal model but cannot ameliorate established cirrhosis. Am J Physiol Gastrointest Liver Physiol. 2015 Jan 15;308(2):G112-20. doi: 10.1152/ajpgi.00132.2013. Epub 2014 Sep 11. PubMed PMID: 25214398.

Szalat A, Shahar M, Shpitzen S, Nachmias B, Munter G, Gillis D, Durst R, Mevorach D, Leitersdorf E, Meiner V, Rosen H. Calcium-sensing receptor sequencing in 21 patients with idiopathic or familial parathyroid disorder: pitfalls and characterization of a novel I32 V loss-of-function mutation. Endocrine. 2015 Mar;48(2):444-53. doi: 10.1007/s12020-014-0370-3. Epub 2014 Aug 5. PubMed PMID: 25091521.

Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. Eur J Hum Genet. 2015 Feb;23(2):159-64. doi: 10.1038/ejhg.2014.85. Epub 2014 Apr 30. PubMed PMID: 24781756; PubMed Central PMCID: PMC4297913.

2014

Orasch C, Averbuch D, Mikulska M, Cordonnier C, Livermore DM, Gyssens IC, Klyasova G, Engelhard D, Kern W, Viscoli C, Akova M, Marchetti O; for the 4th European Conference on Infections in Leukemia (ECIL-4); a joint venture of Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation (IDWP-EBMT); Infectious Diseases Group of the European Organization for Research and Treatment of Cancer (IDG-EORTC); International Immunocompromised Host Society (ICHS); European Leukemia Net (ELN) and European Study Group on Infections in Immunocompromised Hosts of the European Society for Clinical Microbiology and Infectious Diseases (ESGICH-ESCMID). Discontinuation of empirical antibiotic therapy in neutropenic leukaemia patients with fever of unknown origin is ethical. Clin Microbiol Infect. 2014 Dec 18. pii: S1198-743X(14)00076-7. doi: 10.1016/j.cmi.2014.10.014. [Epub ahead of print] PubMed PMID: 25658572.

Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A. Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden. J Pediatr. 2014 Dec 30. pii: S0022-3476(14)01071-3. doi: 10.1016/j.jpeds.2014.11.019. [Epub ahead of print] PubMed PMID: 25556020.

Orasch C, Averbuch D, Mikulska M, Cordonnier C, Livermore DM, Gyssens IC, Klyasova G, Engelhard D, Kern W, Viscoli C, Akova M, Marchetti O; for the 4th European Conference on Infections in Leukemia (ECIL-4); a joint venture of Infectious Diseases Working Party of the European Group for Blood and Marrow Transplantation (IDWP-EBMT); Infectious Diseases Group of the European Organization for Research and Treatment of Cancer (IDG-EORTC); International Immunocompromised Host Society (ICHS); European Leukemia Net (ELN) and European Study Group on Infections in Immunocompromised Hosts of the European Society for Clinical Microbiology and Infectious Diseases (ESGICH-ESCMID). Discontinuation of empirical antibiotic therapy in neutropenic leukaemia patients with fever of unknown origin is ethical. Clin Microbiol Infect. 2014 Dec 18. pii: S1198-743X(14)00076-7. doi: 10.1016/j.cmi.2014.10.014. [Epub ahead of print] PubMed PMID: 25658572.

Schwarzenberg SJ, Bellin M, Husain SZ, Ahuja M, Barth B, Davis H, Durie PR, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Kumar S, Morinville VD, Lowe ME, Nuehring NE, Ooi CY, Pohl JF, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A. Pediatric Chronic Pancreatitis Is Associated with Genetic Risk Factors and Substantial Disease Burden. J Pediatr. 2014 Dec 30. pii: S0022-3476(14)01071-3. doi: 10.1016/j.jpeds.2014.11.019. [Epub ahead of print] PubMed PMID: 25556020.

Rottenstreich A, Wexler ID, Abu-Libdeh A, Berkun Y. Iatrogenic Cushing Syndrome due to Intranasal Dexamethasone. Clin Pediatr (Phila). 2014 Dec 21. pii: 0009922814563927. [Epub ahead of print] PubMed PMID: 25533884.

Shteyer E, Nitzan I, Godfarb A, Hemed N, Revel-Vilk S. Activity of cytochrome P450 1A2 in relation to hepatic iron accumulation in transfusion-dependent β-thalassaemia major patients. Vox Sang. 2014 Dec 4. doi: 10.1111/vox.12223. [Epub ahead of print] PubMed PMID: 25471486.

Ta-Shma A, Perles Z, Yaacov B, Werner M, Frumkin A, Rein AJ, Elpeleg O. A human laterality disorder associated with a homozygous WDR16 deletion. Eur J Hum Genet. 2014 Dec 3. doi: 10.1038/ejhg.2014.265. [Epub ahead of print] PubMed PMI: 25469542.

Enk CD, Nasereddin A, Alper R, Dan-Goor M, Jaffe CL, Wulf HC. Cutaneous leishmaniasis responds to daylight-activated photodynamic therapy: proof of concept for a novel self-administered therapeutic modality. Br J Dermatol. 2014 Nov 1. doi: 10.1111/bjd.13490. [Epub ahead of print] PubMed PMID: 25363817.

Polen E, Weintraub M, Stoffer C, Jaffe DH, Burger A, Revel-Vilk S. Post-thrombotic syndrome after central venous catheter removal in childhood cancer survivors: A prospective cohort study. Pediatr Blood Cancer. 2014 Oct 30. doi: 10.1002/pbc.25302. [Epub ahead of print] PubMed PMID: 25359689.

Cohen-Glickman I, Haviv YS, Cohen MJ. Summary adherence estimates do not portray the true incongruity between drug intake, nurse documentation and physicians' orders. BMC Nephrol. 2014 Oct 23;15:170. doi: 10.1186/1471-2369-15-170. PubMed PMID: 25342142; PubMed Central PMCID: PMC4230519.

Dubnov-Raz G, Khoury Z, Wright I, Raz R, Berger I. The effect of alpha-linolenic acid supplementation on ADHD symptoms in children: a randomized controlled double-blind study. Front Hum Neurosci. 2014 Oct 7;8:780. doi: 10.3389/fnhum.2014.00780. eCollection 2014. PubMed PMID: 25339885; PubMed Central PMCID: PMC4188038.

Auerbach A, Kerem E, Assous MV, Picard E, Bar-Meir M. Is infection with hypermutable Pseudomonas aeruginosa clinically significant? J Cyst Fibros. 2014 Oct 9. pii: S1569-1993(14)00222-7. doi: 10.1016/j.jcf.2014.09.011. [Epub ahead of print] PubMed PMID: 25308183.

Dinur-Schejter Y, Krauss AC, Erlich O, Gorelik N, Yahel A, Porat I, Weintraub M, Stein J, Zaidman I, Stepensky P. Bone marrow transplantation for non-malignant diseases using treosulfan-based conditioning. Pediatr Blood Cancer. 2014 Oct 4. doi: 10.1002/pbc.25267. [Epub ahead of print] PubMed PMID: 25284797.

Ergaz Z, Bar-Oz B, Vainer GW, Abu-Leil S, Simanovsky N, Diav-Citrin O. Congenital fulminant Kaposiform hemangioendothelioma of the leg. Reprod Toxicol. 2014 Dec;50:1-3. doi: 10.1016/j.reprotox.2014.09.011. Epub 2014 Sep 30. PubMed PMID: 25277314.

Wilschanski M, Abbasi M, Blanco E, Lindberg I, Yourshaw M, Zangen D, Berger I, Shteyer E, Pappo O, Bar-Oz B, Martín MG, Elpeleg O. A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. PLoS One. 2014 Oct 1;9(10):e108878. doi: 10.1371/journal.pone.0108878. eCollection 2014. PubMed PMID: 25272002; PubMed Central PMCID: PMC4182778.

Muszkat M, Barak O, Lalazar G, Mazal B, Schneider R, Levi IM, Cohen MJ, Canetti L, Ben Yehuda A, Naparstek Y. The effect of medical students' gender, ethnicity and attitude towards poetry-reading on the evaluation of a required, clinically-integrated poetry-based educational intervention. BMC Med Educ. 2014 Sep 15;14:188. doi: 10.1186/1472-6920-14-188. PubMed PMID: 25223335; PubMed Central PMCID: PMC4176599.

Halperson E, Moss D, Tickotsky N, Weintraub M, Moskovitz M. Dental pulp therapy for primary teeth in children undergoing cancer therapy. Pediatr Blood Cancer. 2014 Dec;61(12):2297-301. doi: 10.1002/pbc.25227. Epub 2014 Sep 11. PubMed PMID: 25214367.

Nobili V, Reif S. Vitamin D and liver fibrosis: let's start soon before it's too late. Gut. 2014 Aug 28. pii: gutjnl-2014-308175. doi: 10.1136/gutjnl-2014-308175. [Epub ahead of print] PubMed PMID: 25192564.

Buganim Y, Markoulaki S, van Wietmarschen N, Hoke H, Wu T, Ganz K, Akhtar-Zaidi B, He Y, Abraham BJ, Porubsky D, Kulenkampff E, Faddah DA, Shi L, Gao Q, Sarkar S, Cohen M, Goldmann J, Nery JR, Schultz MD, Ecker JR, Xiao A, Young RA, Lansdorp PM, Jaenisch R. The developmental potential of iPSCs is greatly influenced by reprogramming factor selection. Cell Stem Cell. 2014 Sep 4;15(3):295-309. doi: 10.1016/j.stem.2014.07.003. PubMed PMID: 25192464; PubMed Central PMCID: PMC4170792.

Guo J, Waknine-Grinberg JH, Mitchell AJ, Barenholz Y, Golenser J. Reduction of experimental cerebral malaria and its related proinflammatory responses by the novel liposome-based β-methasone nanodrug. Biomed Res Int. 2014;2014:292471. doi: 10.1155/2014/292471. Epub 2014 Jul 14. PubMed PMID: 25126550; PubMed Central PMCID: PMC4121993.

Avidan A, Dotan K, Weissman C, Cohen MJ, Levin PD. Accuracy of manual entry of drug administration data into an anesthesia information management system. Can J Anaesth. 2014 Nov;61(11):979-85. doi: 10.1007/s12630-014-0210-1. Epub 2014 Aug 15. PubMed PMID: 25125248.

Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. Review. PubMed PMID: 25087226; PubMed Central PMCID: PMC4167767.

Cohen ME, Fainstein N, Lavon I, Ben-Hur T. Signaling through three chemokine receptors triggers the migration of transplanted neural precursor cells in a model of multiple sclerosis. Stem Cell Res. 2014 Sep;13(2):227-39. doi: 10.1016/j.scr.2014.06.001. Epub 2014 Jun 21. PubMed PMID: 25086214.

Stepensky PY, Wolach B, Gavrieli R, Rousso S, Ben Ami T, Goldman V, Rozovsky K, Hanna S, Etzioni A, Weintraub M. Leukocyte Adhesion Deficiency Type III: Clinical Features and Treatment With Stem Cell Transplantation. J Pediatr Hematol Oncol. 2014 Jul 28. [Epub ahead of print] PubMed PMID: 25072369.

Tsirigotis PD, Resnick IB, Avni B, Grisariu S, Stepensky P, Or R, Shapira MY. Incidence and risk factors for moderate-to-severe veno-occlusive disease of the liver after allogeneic stem cell transplantation using a reduced intensity conditioning regimen. Bone Marrow Transplant. 2014 Nov;49(11):1389-92. doi: 10.1038/bmt.2014.168. Epub 2014 Jul 28. PubMed PMID: 25068424.

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Gillis D, Krishnamohan A, Yaacov B, Shaag A, Jackman JE, Elpeleg O. TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly. J Med Genet. 2014 Sep;51(9):581-6. doi: 10.1136/jmedgenet-2014-102282. Epub 2014 Jul 22. PubMed PMID: 25053765.

Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motilecilia. Nat Commun. 2014 Jul 22;5:4418. doi: 10.1038/ncomms5418. PubMed PMID: 25048963.

Boczonadi V, Müller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lützkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmüller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R. EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. Nat Commun. 2014 Jul 3;5:4287. doi: 10.1038/ncomms5287. PubMed PMID: 24989451; PubMed Central PMCID: PMC4102769.

Groll AH, Castagnola E, Cesaro S, Dalle JH, Engelhard D, Hope W, Roilides E, Styczynski J, Warris A, Lehrnbecher T; Fourth European Conference on Infections in Leukaemia; Infectious Diseases Working Party of the European Group for Blood Marrow Transplantation (EBMT-IDWP); Infectious Diseases Group of the European Organisation for Research and Treatment of Cancer (EORTC-IDG); International Immunocompromised Host Society (ICHS); European Leukaemia Net (ELN). Fourth European Conference on Infections in Leukaemia (ECIL-4): guidelines for diagnosis, prevention, and treatment of invasive fungal diseases in paediatric patients with cancer or allogeneic haemopoietic stem-cell transplantation. Lancet Oncol. 2014 Jul;15(8):e327-40. doi: 10.1016/S1470-2045(14)70017-8. Review. PubMed PMID: 24988936.

Breuer O, Cohen-Cymberknoh M, Armoni S, Kerem E, Shoseyov D. Continuous intravenous β-lactam antibiotics in cystic fibrosis patients with severe drug hypersensitivity. Ann Allergy Asthma Immunol. 2014 Aug;113(2):229-30. doi: 10.1016/j.anai.2014.05.014. Epub 2014 Jun 13. PubMed PMID: 24934107.

Kerem E, Webb AK. European Cystic Fibrosis Society Standards of Care: a road map to improve CF outcome. J Cyst Fibros. 2014 Jul;13(4):357-8. doi: 10.1016/j.jcf.2014.05.003. Epub 2014 May 29. PubMed PMID: 24880531.

Karavani G, Strich D, Edri S, Gillis D. Increases in thyrotropin within the near-normal range are associated with increased triiodothyronine but not increased thyroxine in the pediatric age group. J Clin Endocrinol Metab. 2014 Aug;99(8):E1471-5. doi: 10.1210/jc.2014-1441. Epub 2014 May 30. PubMed PMID: 24878053.

Shiri S, Tenenbaum A, Sapir-Budnero O, Wexler ID. Elevating hope among children with Attention deficit and hyperactivity disorder through virtual reality. Front Hum Neurosci. 2014 May 7;8:198. doi: 10.3389/fnhum.2014.00198. eCollection 2014. PubMed PMID: 24847233; PubMed Central PMCID: PMC4019862.

Averbuch D, Nir-Paz R, Tenenbaum A, Stepensky P, Brooks R, Koplewitz BZ, Simckes AM, Engelhard D. Factors associated with bacteremia in young infants with urinary tract infection. Pediatr Infect Dis J. 2014 Jun;33(6):571-5. doi: 10.1097/INF.0000000000000316. PubMed PMID: 24836755.

Kerem E, Konstan MW, De Boeck K, Accurso FJ, Sermet-Gaudelus I, Wilschanski M, Elborn JS, Melotti P, Bronsveld I, Fajac I, Malfroot A, Rosenbluth DB, Walker PA, McColley SA, Knoop C, Quattrucci S, Rietschel E, Zeitlin PL, Barth J, Elfring GL, Welch EM, Branstrom A, Spiegel RJ, Peltz SW, Ajayi T, Rowe SM; Cystic Fibrosis Ataluren Study Group. Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial. Lancet Respir Med. 2014 Jul;2(7):539-47. doi: 10.1016/S2213-2600(14)70100-6. Epub 2014 May 15. PubMed PMID: 24836205; PubMed Central PMCID: PMC4154311.

Gordon O, Almagor Y, Fridler D, Mandel A, Qutteineh H, Yanir A, Reif S, Vilk SR. De novo neonatal antiphospholipid syndrome: a case report and review of the literature. Semin Arthritis Rheum. 2014 Oct;44(2):241-5. doi: 10.1016/j.semarthrit.2014.04.003. Epub 2014 Apr 13. PubMed PMID: 24830792.

Morinville VD, Lowe ME, Ahuja M, Barth B, Bellin MD, Davis H, Durie PR, Finley B, Fishman DS, Freedman SD, Gariepy CE, Giefer MJ, Gonska T, Heyman MB, Himes R, Husain S, Kumar S, Ooi CY, Pohl JF, Schwarzenberg SJ, Troendle D, Werlin SL, Wilschanski M, Yen E, Uc A. Design and implementation of INSPPIRE. J Pediatr Gastroenterol Nutr. 2014 Sep;59(3):360-4. doi: 10.1097/MPG.0000000000000417. PubMed PMID: 24824361; PubMed Central PMCID: PMC4141003.

Maeir A, Fisher O, Bar-Ilan RT, Boas N, Berger I, Landau YE. Effectiveness of Cognitive-Functional (Cog-Fun) occupational therapy intervention for young children with attention deficit hyperactivity disorder: a controlled study. Am J Occup Ther. 2014 May-Jun;68(3):260-7. doi: 10.5014/ajot.2014.011700. PubMed PMID: 24797189.

Ofek-Shlomai N, Berger I. Inflammatory injury to the neonatal brain – what can we do? Front Pediatr. 2014 Apr 9;2:30. doi: 10.3389/fped.2014.00030. eCollection 2014. Review. PubMed PMID: 24783185; PubMed Central PMCID: PMC3988390.

Cheishvili D, Dietrich P, Maayan C, Even A, Weil M, Dragatsis I, Razin A. IKAP deficiency in an FD mouse model and in oligodendrocyte precursor cells results in downregulation of genes involved in oligodendrocyte differentiation and myelin formation. PLoS One. 2014 Apr 23;9(4):e94612. doi: 10.1371/journal.pone.0094612. eCollection 2014. PubMed PMID: 24760006; PubMed Central PMCID: PMC3997429.

Haimov-Kochman R, Berger I. Cognitive functions of regularly cycling women may differ throughout the month, depending on sex hormone status; a possible explanation to conflicting results of studies of ADHD in females. Front Hum Neurosci. 2014 Apr 1;8:191. doi: 10.3389/fnhum.2014.00191. eCollection 2014. Review. PubMed PMID: 24744721; PubMed Central PMCID: PMC3978296.

Nishri D, Edvardson S, Lev D, Leshinsky-Silver E, Ben-Sira L, Henneke M, Lerman-Sagie T, Blumkin L. Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder. Eur J Paediatr Neurol. 2014 Jul;18(4):495-501. doi: 10.1016/j.ejpn.2014.03.009. Epub 2014 Apr 8. PubMed PMID: 24742911.

Bulger EM, Maier RV, Sperry J, Joshi M, Henry S, Moore FA, Moldawer LL, Demetriades D, Talving P, Schreiber M, Ham B, Cohen M, Opal S, Segalovich I, Maislin G, Kaempfer R, Shirvan A. A Novel Drug for Treatment of Necrotizing Soft-Tissue Infections: A Randomized Clinical Trial. JAMA Surg. 2014 Apr 16. doi: 10.1001/jamasurg.2013.4841. [Epub ahead of print] PubMed PMID: 24740134.

Latella G, Rogler G, Bamias G, Breynaert C, Florholmen J, Pellino G, Reif S, Speca S, Lawrance IC. Results of the 4th scientific workshop of the ECCO (I): pathophysiology of intestinal fibrosis in IBD. J Crohns Colitis. 2014 Oct 1;8(10):1147-65. doi: 10.1016/j.crohns.2014.03.008. Epub 2014 Apr 14. PubMed PMID: 24731838.

Berkun Y, Simchen MJ, Strauss T, Menashcu S, Padeh S, Kenet G. Antiphospholipid antibodies in neonates with stroke--a unique entity or variant of antiphospholipid syndrome? Lupus. 2014 Sep;23(10):986-93. doi: 10.1177/0961203314531842. Epub 2014 Apr 11. PubMed PMID: 24729280.

Tenenbaum A, Hanna RN, Averbuch D, Wexler ID, Chavkin M, Merrick J. Hospitalization of children with down syndrome. Front Public Health. 2014 Mar 20;2:22. doi: 10.3389/fpubh.2014.00022. eCollection 2014. PubMed PMID: 24688981; PubMed Central PMCID: PMC3960574.

Gordon O, He Z, Gilon D, Gruener S, Pietranico-Cole S, Oppenheim A, Keshet E. A transgenic platform for testing drugs intended for reversal of cardiac remodeling identifies a novel 11βHSD1 inhibitor rescuing hypertrophy independently of re-vascularization. PLoS One. 2014 Mar 25;9(3):e92869. doi: 10.1371/journal.pone.0092869. eCollection 2014. PubMed PMID: 24667808; PubMed Central PMCID: PMC3965501.

Miloslavski R, Cohen E, Avraham A, Iluz Y, Hayouka Z, Kasir J, Mudhasani R, Jones SN, Cybulski N, Rüegg MA, Larsson O, Gandin V, Rajakumar A, Topisirovic I, Meyuhas O. Oxygen sufficiency controls TOP mRNA translation via the TSC-Rheb-mTOR pathway in a 4E-BP-independent manner. J Mol Cell Biol. 2014 Jun;6(3):255-66. doi: 10.1093/jmcb/mju008. Epub 2014 Mar 13. PubMed PMID: 24627160; PubMed Central PMCID: PMC4034726.

Komar-Stossel C, Gross E, Dery E, Corchia N, Meir K, Fried I, Abramovitch R. TL-118 and gemcitabine drug combination display therapeutic efficacy in a MYCN amplified orthotopic neuroblastoma murine model--evaluation by MRI. PLoS One. 2014 Mar 6;9(3):e90224. doi: 10.1371/journal.pone.0090224. eCollection 2014. PubMed PMID: 24603724; PubMed Central PMCID: PMC3946152.

Shamriz O, Vilk SR, Wolf DG, Ta-Shma A, Averbuch D, Weintraub M, Stepensky P. Hematopoietic stem cell transplantation conditioning with use of rituximab in EBV related lymphoproliferative disorders. Clin Immunol. 2014 Apr;151(2):79-83. doi: 10.1016/j.clim.2014.01.007. Epub 2014 Feb 4. PubMed PMID: 24584040.

Khoury JF, Ben-Arush MW, Weintraub M, Waldman E, Futerman B, Vlodavsky E, Postovsky S. Alkaline phosphatase level change in patients with osteosarcoma: its role as a predictive factor of tumor necrosis and clinical outcome. Isr Med Assoc J. 2014 Jan;16(1):26-32. PubMed PMID: 24575501ץ

Cohen E, Chatzigeorgiou M, Husson SJ, Steuer-Costa W, Gottschalk A, Schafer WR, Treinin M. Caenorhabditis elegans nicotinic acetylcholine receptors are required for nociception. Mol Cell Neurosci. 2014 Mar;59:85-96. doi: 10.1016/j.mcn.2014.02.001. Epub 2014 Feb 8. PubMed PMID: 24518198; PubMed Central PMCID: PMC4258610.

Cohen MJ, Levy I, Barak O, Bloom AI, Fernández-Ruiz M, Di Maio M, Perrone F, Poon RT, Shouval D, Yau T, Shibolet O. Trans-arterial chemo-embolization is safe and effective for elderly advanced hepatocellular carcinoma patients: results from an international database. Liver Int. 2014 Aug;34(7):1109-17. doi: 10.1111/liv.12486. Epub 2014 Apr 4. PubMed PMID: 24512125.

Peled O, Kalamaro V, Kerem E, Shoseyov D, Blau H, Efrati O, Block C. Contamination of hypertonic saline solutions in use by cystic fibrosis patients in Israel. J Cyst Fibros. 2014 Sep;13(5):550-6. doi: 10.1016/j.jcf.2014.01.001. Epub 2014 Jan 28. PubMed PMID: 24484849.

Saad HA, Elbedour S, Hallaq E, Merrick J, Tenenbaum A. Consanguineous Marriage and Intellectual and Developmental Disabilities among Arab Bedouins Children of the Negev Region in Southern Israel: A Pilot Study. Front Public Health. 2014 Jan 28;2:3. doi: 10.3389/fpubh.2014.00003. eCollection 2014. PubMed PMID: 24479114; PubMed Central PMCID: PMC3904202.

Grossman Z, Schapiro JM, Levy I, Elbirt D, Chowers M, Riesenberg K, Olstein-Pops K, Shahar E, Istomin V, Asher I, Gottessman BS, Shemer Y, Elinav H, Hassoun G, Rosenberg S, Averbuch D, Machleb-Guri K, Kra-Oz Z, Radian-Sade S, Rudich H, Ram D, Maayan S, Agmon-Levin N, Sthoeger Z. Comparable long-term efficacy of Lopinavir/Ritonavir and similar drug-resistance profiles in differentb HIV-1 subtypes. PLoS One. 2014 Jan 27;9(1):e86239. doi: 10.1371/journal.pone.0086239. eCollection 2014. PubMed PMID: 24475093; PubMed Central PMCID: PMC3903498.

Kolevzon N, Nasereddin A, Naik S, Yavin E, Dzikowski R. Use of peptide nucleic acids to manipulate gene expression in the malaria parasite Plasmodium falciparum. PLoS One. 2014 Jan 22;9(1):e86802. doi: 10.1371/journal.pone.0086802. eCollection 2014. PubMed PMID: 24466246; PubMed Central PMCID: PMC3899306.

Eisenstein EM, Berkun Y. Diagnosis and classification of juvenile idiopathic arthritis. J Autoimmun. 2014 Feb-Mar;48-49:31-3. doi: 10.1016/j.jaut.2014.01.009. Epub 2014 Jan 21. Review. PubMed PMID: 24461383.

Ofek Shlomai N, Reichman B, Lerner-Geva L, Boyko V, Bar-Oz B. Population-based study shows improved postnatal growth in preterm very-low-birthweight infants between 1995 and 2010. Acta Paediatr. 2014 May;103(5):498-503. doi: 10.1111/apa.12569. Epub 2014 Feb 21. PubMed PMID: 24460697.

Ben-Chetrit E, Wiener-Well Y, Shulman LM, Cohen MJ, Elinav H, Sofer D, Feldman I, Marva E, Wolf DG. Coxsackievirus A6-related hand foot and mouth disease: skin manifestations in a cluster of adult patients. J Clin Virol. 2014 Mar;59(3):201-3. doi: 10.1016/j.jcv.2013.12.012. Epub 2014 Jan 7. PubMed PMID: 24457116.

Berkun Y, Eisenstein EM. Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev. 2014 Apr-May;13(4-5):388-90. doi: 10.1016/j.autrev.2014.01.045. Epub 2014 Jan 11. Review. PubMed PMID: 24424166.

Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, Rein AJ, Elpeleg O. Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet. 2014 Apr;51(4):268-70. doi: 10.1136/jmedgenet-2013-102100. Epub 2014 Jan 13. PubMed PMID: 24421281.

Papadopoulou A, Koletzko S, Heuschkel R, Dias JA, Allen KJ, Murch SH, Chong S, Gottrand F, Husby S, Lionetti P, Mearin ML, Ruemmele FM, Schäppi MG, Staiano A, Wilschanski M, Vandenplas Y; ESPGHAN Eosinophilic Esophagitis Working Group and the Gastroenterology Committee. Management guidelines of eosinophilic esophagitis in childhood. J Pediatr Gastroenterol Nutr. 2014 Jan;58(1):107-18. doi: 10.1097/MPG.0b013e3182a80be1. PubMed PMID: 24378521.

Mikulska M, Viscoli C, Orasch C, Livermore DM, Averbuch D, Cordonnier C, Akova M; Fourth European Conference on Infections in Leukemia Group (ECIL-4), a joint venture of EBMT, EORTC, ICHS, ELN and ESGICH/ESCMID. Aetiology and resistance in bacteraemias among adult and paediatric haematology and cancer patients. J Infect. 2014 Apr;68(4):321-31. doi: 10.1016/j.jinf.2013.12.006. Epub 2013 Dec 24. Review. PubMed PMID: 24370562.

Avital A, Hevroni A, Godfrey S, Cohen S, Maayan C, Nusair S, Nogee LM, Springer C. Natural history of five children with surfactant protein C mutations and interstitial lung disease. Pediatr Pulmonol. 2014 Nov;49(11):1097-105. doi: 10.1002/ppul.22971. Epub 2013 Dec 17. PubMed PMID: 24347114.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6. PubMed PMID: 24319291.

Auer F, Rüschendorf F, Gombert M, Husemann P, Ginzel S, Izraeli S, Harit M, Weintraub M, Weinstein OY, Lerer I, Stepensky P, Borkhardt A, Hauer J. Inherited susceptibility to pre B-ALL caused by germline transmission of PAX5 c.547G>A. Leukemia. 2014 May;28(5):1136-8. doi: 10.1038/leu.2013.363. Epub 2013 Nov 29. PubMed PMID: 24287434.

Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, Horovitz Y, Khayat M, Shalev SA, Feuk L, Elpeleg O. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014 Jul;22(7):902-6. doi: 10.1038/ejhg.2013.269. Epub 2013 Nov 27. PubMed PMID: 24281368; PubMed Central PMCID: PMC4060119.

Cheishvili D, Laiba E, Rekhtman D, Claman A, Razin A, Maayan C. Dynamic changes in IKBKAP mRNA levels during crisis of familial dysautonomia patients. Auton Neurosci. 2014 Feb;180:59-65. doi: 10.1016/j.autneu.2013.10.009. Epub 2013 Nov 1. PubMed PMID: 24268683.

Berger I, Cassuto H. The effect of environmental distractors incorporation into a CPT on sustained attention and ADHD diagnosis among adolescents. J Neurosci Methods. 2014 Jan 30;222:62-8. doi: 10.1016/j.jneumeth.2013.10.012. Epub 2013 Nov 8. PubMed PMID: 24211249.

Güngör T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, Vermont C, Ahmad I, Shaw PJ, Telles da Cunha JM, Schlegel PG, Hough R, Fasth A, Kentouche K, Gruhn B, Fernandes JF, Lachance S, Bredius R, Resnick IB, Belohradsky BH, Gennery A, Fischer A, Gaspar HB, Schanz U, Seger R, Rentsch K, Veys P, Haddad E, Albert MH, Hassan M; Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014 Feb 1;383(9915):436-48. doi: 10.1016/S0140-6736(13)62069-3. Epub 2013 Oct 23. PubMed PMID: 24161820.

Stocki D, Matot I, Einav S, Eventov-Friedman S, Ginosar Y, Weiniger CF. A randomized controlled trial of the efficacy and respiratory effects of patient-controlled intravenous remifentanil analgesia and patient-controlled epidural analgesia in laboring women. Anesth Analg. 2014 Mar;118(3):589-97. doi: 10.1213/ANE.0b013e3182a7cd1b. PubMed PMID: 24149580.

Dior UP, Kogan L, Calderon-Margalit R, Burger A, Amsallem H, Elchalal U, Eventov-Friedman S, Ergaz Z, Ezra Y. The association of maternal intrapartum subfebrile temperature and adverse obstetric and neonatal outcomes. Paediatr Perinat Epidemiol. 2014 Jan;28(1):39-47. doi: 10.1111/ppe.12090. Epub 2013 Oct 10. PubMed PMID: 24118104.

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