Literature DB >> 18280855

Magnetic resonance imaging findings of the pancreas in patients with Shwachman-Diamond syndrome and mutations in the SBDS gene.

Sanna Toiviainen-Salo1, Merja Raade, Peter R Durie, Wan Ip, Eino Marttinen, Erkki Savilahti, Outi Mäkitie.   

Abstract

Pancreatic MRI was evaluated in 14 patients with a clinical diagnosis of Shwachman-Diamond syndrome, and the findings were correlated with Shwachman-Bodian-Diamond gene (SBDS) genotype. The findings suggest that patients with mutations in the SBDS gene have a characteristic magnetic resonance imaging pattern of fat-replaced pancreas and that SBDS mutations are unlikely in patients without this pattern.

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Year:  2008        PMID： 18280855     DOI： 10.1016/j.jpeds.2007.12.013

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  10 in total

1.  Early spontaneous recovery of exocrine pancreatic insufficiency in a 3-year-old child with Shwachman-Diamond syndrome.

Authors:  Nandhini Kumaraguru; Jutta Köglmeier
Journal:  Indian J Gastroenterol       Date:  2014-05

Review 2.  Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.

Authors:  Terry L Levin; Outi Mäkitie; Walter E Berdon; Ralph S Lachman
Journal:  Pediatr Radiol       Date:  2014-11-23

3.  Shwachman-Diamond syndrome: diarrhea, no longer required?

Authors:  Jeffrey R Andolina; Colleen B Morrison; Alexis A Thompson; Sonali Chaudhury; A Kyle Mack; Maria Proytcheva; Seth J Corey
Journal:  J Pediatr Hematol Oncol       Date:  2013-08       Impact factor: 1.289

4.  Atrophic-appearing pancreas on magnetic resonance cholangiopancreatography as initial presentation of cystic fibrosis.

Authors:  Amy Stratton; Thomas Murphy; Jeffrey Laczek
Journal:  Hawaii J Med Public Health       Date:  2012-06

Review 5.  Metabolic implications of pancreatic fat accumulation.

Authors:  Robert Wagner; Sabine S Eckstein; Hajime Yamazaki; Felicia Gerst; Jürgen Machann; Benjamin Assad Jaghutriz; Annette Schürmann; Michele Solimena; Stephan Singer; Alfred Königsrainer; Andreas L Birkenfeld; Hans-Ulrich Häring; Andreas Fritsche; Susanne Ullrich; Martin Heni
Journal:  Nat Rev Endocrinol       Date:  2021-10-20       Impact factor: 43.330

Review 6.  Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Authors:  Lauri Burroughs; Ann Woolfrey; Akiko Shimamura
Journal:  Hematol Oncol Clin North Am       Date:  2009-04       Impact factor: 3.722

7.  Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).

Authors:  Steven J Keogh; Shane McKee; Sarah F Smithson; David Grier; Colin G Steward
Journal:  BMC Pediatr       Date:  2012-05-03       Impact factor: 2.125

8.  In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

Authors:  Marina E Tourlakis; Siyi Zhang; Heather L Ball; Rikesh Gandhi; Hongrui Liu; Jian Zhong; Julie S Yuan; Cynthia J Guidos; Peter R Durie; Johanna M Rommens
Journal:  PLoS Genet       Date:  2015-06-09       Impact factor: 5.917

9.  A case of shwachman-diamond syndrome distinguished from celiac disease.

Authors:  Shin-Ichiro Hagiwara; Arata Watanabe
Journal:  Pediatr Rep       Date:  2012-09-26

10.  Association of fatty pancreas with pancreatic endocrine and exocrine function.

Authors:  Hayato Miyake; Junichi Sakagami; Hiroaki Yasuda; Yoshio Sogame; Ryusuke Kato; Kanetoshi Suwa; Katsuyuki Dainaka; Tomoki Takata; Isao Yokota; Yoshito Itoh
Journal:  PLoS One       Date:  2018-12-20       Impact factor: 3.240
  10 in total

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