Výsledky vyhledávání - "Asaf, Vivante"

Akademický článek

Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF

Autor: Shiran Pinchevski-Kadir, Maya Gerstein, Oren Pleniceanu, Yonatan Yacobi, Asaf Vivante, Ortal Erez Granat, Shiri Spielman, Rotem Semo Oz, Irit Tirosh

Publikováno v: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-7 (2023)

Abstract Introduction Familial Mediterranean Fever (FMF) is the most common monogentic autoinflammatory disease. FMF results from mutations in MEFV, which lead to a pro-inflammatory state and increased production of Interleukin 1 beta subunit (IL-1b)

Externí odkaz: https://doaj.org/article/80e60c49c6ea49a6880abace3b476e63

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Akademický článek

Colchicine treatment can be discontinued in a selected group of pediatric FMF patients

Autor: Keren Cohen, Shiri Spielman, Rotem Semo-Oz, Guy Bitansky, Maya Gerstein, Yonatan Yacobi, Asaf Vivante, Irit Tirosh

Publikováno v: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-6 (2023)

Abstract Objectives Familial Mediterranean Fever (FMF) patients are required to adhere to a life-long treatment with colchicine, primarily for preventing amyloidosis. As some patients may be asymptomatic for long periods of time, it remains unclear w

Externí odkaz: https://doaj.org/article/c6a1e146ccd64eca8aa2fdad2f43d16f

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Akademický článek

TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys

Autor: Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-Shraga

Publikováno v: JCRPE, Vol 14, Iss 2, Pp 227-232 (2022)

A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We report a patient who presented with fasting hyperglyc

Externí odkaz: https://doaj.org/article/3967adb0e10a43b7ac58ec8e08b056b4

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Akademický článek

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom

Autor: Shani Karklinsky, Shir Kugler, Omer Bar-Yosef, Andreea Nissenkorn, Anat Grossman-Jonish, Irit Tirosh, Asaf Vivante, Ben Pode-Shakked

Publikováno v: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-5 (2022)

Abstract Background Limping and/or refusal to walk is a common complaint in the setting of the pediatric department, with a widely diverse differential diagnosis. An unusual etiology, is that of a hereditary neuropathy. Hereditary neuropathy with lia

Externí odkaz: https://doaj.org/article/9030221f2a0943f28ab6cd9290ccee3b

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Akademický článek

Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Publikováno v: Frontiers in Genetics, Vol 13 (2023)

Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su

Externí odkaz: https://doaj.org/article/5ffe107900c941c4ab532f5edb295397

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Akademický článek

Congenital Anomalies of the Kidney and Urinary Tract and Adulthood risk of Urinary Tract Cancer

Autor: Ronit Calderon-Margalit, Gil Efron, Oren Pleniceanu, Dorit Tzur, Michal Stern-Zimmer, Arnon Afek, Tomer Erlich, Estela Derazne, Jeremy D. Kark, Lital Keinan-Boker, Gilad Twig, Asaf Vivante

Publikováno v: Kidney International Reports, Vol 6, Iss 4, Pp 946-952 (2021)

Introduction: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common kidney diseases in childhood. Alterations in genes governing nephrogenesis may cause CAKUT, and in some cases may contribute to development of urinary trac

Externí odkaz: https://doaj.org/article/ad3fa5fb64264c1db97537f8881490fc

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Akademický článek

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Publikováno v: Pediatric Rheumatology Online Journal, Vol 17, Iss 1, Pp 1-11 (2019)

Abstract Background Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying th

Externí odkaz: https://doaj.org/article/f82d0d189e6b482e8ba4d7f0b981974a

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Akademický článek

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

Autor: Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster

Publikováno v: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

Abstract Background Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred ca

Externí odkaz: https://doaj.org/article/21ee6b5247cf41b39363d1574af2d8da

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