Results 41 to 50 of about 9,951 (218)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea[S]

Journal of Lipid Research, 2017
Acyl-CoA:diacylglycerol acyltransferase (DGAT)1 and DGAT2 catalyze triglyceride (TG) biosynthesis in humans. Biallelic loss-of-function mutations in human DGAT1 result in severe congenital diarrhea and protein-losing enteropathy.
Nina L. Gluchowski, Chandramohan Chitraju, Joseph A. Picoraro, Niklas Mejhert, Shirly Pinto, Winnie Xin, Daniel S. Kamin, Harland S. Winter, Wendy K. Chung, Tobias C. Walther, Robert V. Farese, Jr.   +10 more
doaj   +1 more source

New Insights and Perspectives in Congenital Diarrheal Disorders [PDF]

, 2017
Purpose of Review We highlight new entities of congenital diarrheal disorders (CDDs) and progresses in understanding of functionally related genes, opening new diagnostic and therapeutic perspectives.
BERNI CANANI, Roberto, Domenica Francesca, Mariniello2, Giusi Grimaldi, 2, Lorella Paparo, 6, Mariateresa, Russo2, Mazza, Vincenza Pezzella1, Serena,   +6 more
core   +1 more source

Isolated Pleural Effusion as Presentation of a Large B‐Cell Lymphoma: A Case Report and Diagnostic Considerations

Journal of Clinical Laboratory Analysis, EarlyView.
A 79‐year‐old man presented with massive pleural effusion in which cytological examination revealed lymphoma cells without evidence of a solid tumor mass. Negative EBV in situ hybridization and negative HHV8 and HIV testing, combined with flow cytometric immunophenotyping and molecular findings, supported a diagnosis of fluid overload–associated large ...
Van Vlierberghe Magalie, Dewaide Rosina, Michaux Lucienne, Develter Wim, Van Aelst Sophie, Claerhout Helena   +5 more
wiley   +1 more source

Clinical presentation and endoscopic features of primary gastric Burkitt lymphoma in childhood, presenting as a protein-losing enteropathy: a case report

Journal of Medical Case Reports, 2009
Introduction Burkitt lymphoma and B cell lymphomas in childhood may arise in many atypical locations, which on rare occasions can include gastric mucosa.
Chieng Jenny Hui Chia, Garrett John, Ding Steven Leslie, Sullivan Michael   +3 more
doaj   +1 more source

Malnutrition and chyle leakage: A life‐threatening duo in heart transplantation post‐Fontan procedure

Clinical Case Reports, 2020
Protein‐losing enteropathy and chyle leakage may lead to severe malnutrition in heart transplantation for failing Fontan. Nutritional management may be challenging from defining nutrient needs to diagnosis of malnutrition enteropathy, and expertise is ...
Antonella Lezo, Enrico Aidala, Luca Deorsola, Maria Teresa Cascarano, Alberta Rizzo, Stefania Iannandrea, Licia Peruzzi, Federica Runfola, Carlo Pace Napoleone   +8 more
doaj   +1 more source

Gastric duplication cyst causing hypergastrinemia in an infant

JPGN Reports, EarlyView.
Abstract Gastric duplication cysts are rare congenital anomalies, with fewer than 10% occurring in the stomach. We report a 14‐month‐old girl presenting with failure to thrive, recurrent emesis, hematemesis, and severe duodenitis with ulceration. Laboratory evaluation revealed marked hypergastrinemia (1781 pg/mL), and initial imaging was unrevealing ...
Nathan Bryan, Ian Leibowitz
wiley   +1 more source

Intestinal Lymphangiectasia Secondary to Neuroblastoma

Canadian Journal of Gastroenterology, 1994
An eight month-old infant presented with a 10-day history of vomiting and diarrhea, and a one-week history of swelling of the lower extremities. Laboratory evaluations revealed hypoproteinemia and lymphocytopenia due to protein-losing enteropathy ...
RM Reifen, PM Sherman
doaj   +1 more source

Angiopoietin-2 predicts morbidity in adults with Fontan physiology. [PDF]

, 2019
Morbidity in patients with single-ventricle Fontan circulation is common and includes arrhythmias, edema, and pulmonary arteriovenous malformations (PAVM) among others. We sought to identify biomarkers that may predict such complications.
Aboulhosn, Jamil A, Boström, Kristina I, Conrad, Miles B, Guihard, Pierre J, Iruela-Arispe, M Luisa, Kim, Helen, Lluri, Gentian, Pawlikowska, Ludmila, Shirali, Aditya S   +8 more
core  

Gut function among children treated for severe acute malnutrition: A cohort study in Uganda

JPGN Reports, EarlyView.
Abstract Objectives Impaired gut function in children with severe acute malnutrition (SAM) is associated with morbidity. We aimed to assess changes in six biomarkers representing different domains of gut function among children with complicated SAM during nutritional rehabilitation, and to identify predictors of these changes.
Betty Lanyero, Nicolette Nabukeera–Barungi, Ezekiel Mupere, Bikila S. Megersa, Iris Weidema, Pingping Jiang, Maria Wiese, Musemma K. Muhammed, Henrik Friis, Hanne Frøkiær, Dennis S. Nielsen, Vibeke Brix Christensen, Benedikte Grenov   +12 more
wiley   +1 more source