Results 71 to 80 of about 21,117 (229)

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

Malnutrition and diabetes outcomes 12 months after total pancreatectomy: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Total pancreatectomy is a rare but increasingly performed surgical procedure that systematically induces endocrine and exocrine pancreatic insufficiency. Data on long‐term nutritional outcomes after this surgery are limited. The objective of this study was to assess the prevalence of malnutrition at 3 months and 12 months after ...
Ibrahima Maiga, Antoine Vilotitch, Béatrice Genoux, Mircea Chirica, Edouard Girard, Cécile Bétry   +5 more
wiley   +1 more source

Liver disease in Shwachman‐Diamond syndrome: A comprehensive characterization across the age spectrum

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Shwachman‐Diamond syndrome (SDS) is an inherited bone marrow failure disorder, and its hepatic phenotype is poorly defined. Our objective was to systematically characterize the prevalence, features, and outcomes of liver injury in a multicenter SDS cohort. Methods Retrospective registry study of 171 patients with biallelic Shwachman‐
Jane Koo, Diana Schwarz, Meghan Haney, Juan Putra, Jaeson Kim, Leah Cheng, Elizabeth Korn, Sarah Steltz, Lois Schwarz, Sara Loveless, Richard Cooper, Claire Dusa, Adam Lane, Kasiani C. Myers, Akiko Shimamura, Amit S. Grover, Andrew Wehrman   +16 more
wiley   +1 more source

What's in a Name? Classification of Diabetes Mellitus in Veterinary Medicine and Why It Matters [PDF]

, 2016
Diabetes Mellitus (DM) is a syndrome caused by various etiologies. The clinical manifestations of DM are not indicative of the cause of the disease, but might be indicative of the stage and severity of the disease process.
Abdul-Rasoul, Agarwal, Ahlgren, Alejandro, American Diabetes Association, Anderson, Appleton, Atkins, Atkins, Batchelor, Belle, Bostrom, Brackeva, Brenner, Butler, Catchpole, Catchpole, Chiang, Concannon, Coppieters, Cui, Das, Davison, Davison, Davison, De Cock, Eigenmann, Fajans, Fall, Forcada, Forcada, Forsberg, Furrer, Gepts, Gilor, Gilor, Gilor, Girman, Goossens, Gostelow, Gottlieb, Guptill, Haines, Hall, Herold, Hess, Hewson-Hughes, Hoenig, Hoenig, Hoffmann, Holst, Hume, Imamura, Jensen, Kappe, Kennedy, Kenny, Kilpatrick, Kim, Kitamura, Klupa, Kramer, Kramer, Lem, Ling, Link, Lutz, Mattin, McDonald, Miceli, Michels, Neiger, Nelson, Nelson, Niessen, Niessen, Nishii, Orban, Panciera, Papa, Pietropaolo, Porte, Porte, Prahl, Prasad, Rand, Ranta, Reaven, Russell-Jones, Safra, Scudder, Shields, Slingerland, Solanki, Strage, Sun, Temple, Thomas, Vegiopoulos, Verkest, Watson, Watson, Williams, Xenoulis, Yang, Zini, Zini, Zini, Zini, Zini, Zini   +110 more
core   +3 more sources

Liver stiffness in patients with Shwachman‐Diamond syndrome

JPGN Reports, EarlyView.
Abstract Objective This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman‐Diamond Syndrome (SDS). Methods All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology ...
Sabina Sabharwal, Amit Grover, Paul Mitchell, Jessica Serino‐Cipoletta, Akiko Shimamura, Rima Fawaz   +5 more
wiley   +1 more source

Association of faecal elastase 1 with non-fasting triglycerides in type 2 diabetes. [PDF]

, 2015
AIMS: Intestinal absorption of esterified fatty acids depends on exocrine pancreatic function and influences plasma triglycerides levels. The aim was to investigate the association of reduced exocrine pancreatic function (low fecal elastase-1; FE1) with ...
Berglind, Niklas, Haastert, Burkhard, Lindkvist, Björn, Oscarsson, Jan, Rathmann, Wolfgang, Wareham, Nicholas J   +5 more
core   +2 more sources

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Qualitative Assessment of the Symptoms and Impact of Pancreatic Exocrine Insufficiency (PEI) to Inform the Development of a Patient-Reported Outcome (PRO) Instrument [PDF]

, 2017
Background: Pancreatic exocrine insufficiency (PEI) affects patients with chronic pancreatitis (CP) and cystic fibrosis (CF) who produce insufficient digestive pancreatic enzymes.
Colin D. Johnson, Doris Staab, Enrique Dominguez-Munoz, Gary Connett, Markus M. Lerch, Nicola Bonner, Nicola Williamson, Philippe Levy, Rob Arbuckle   +8 more
core   +1 more source

Pancreatogenic type 3C diabetes [PDF]

, 2018
Background. The relationship between chronic pancreatitis and diabetes is well established. This form of diabetes is secondary to exocrine pancreatic disorder and is known as diabetes mellitus type 3c (T3cDM). Materials and Methods. In this retrospective
Diaconu, Camelia C, Diculescu, Mircea, Ditu, Giorgiana, Hainarosie, Razvan, Manuc, Dana, Manuc, Mircea, Nitipir, Cornelia, Pantea Stoian, Anca Mihaela, Poiana, Catalina, Serafinceanu, Cristian, Suceveanu, Adrian Paul, Suceveanu, Andra Iulia   +11 more
core   +1 more source

The common truncation variant in pancreatic lipase related protein 2 (PNLIPRP2) is expressed poorly and does not alter risk for chronic pancreatitis [PDF]

, 2018
A nonsense variant (p.W358X) of human pancreatic lipase related protein 2 (PNLIPRP2) is present in different ethnic populations with a high allele frequency.
Hegyi, Eszter, Hegyi, Peter, Lowe, Mark E, Nemeth, Balazs Csaba, Pesei, Zsofia Gabriella, Sahin-Toth, Miklos, Szentesi, Andrea, Szucs, Akos   +7 more
core   +2 more sources