Results 31 to 40 of about 1,462 (187)

A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity. [PDF]

, 2014
Four siblings presented with congenital diarrhea and various endocrinopathies. Exome sequencing and homozygosity mapping identified five regions, comprising 337 protein-coding genes that were shared by three affected siblings. Exome sequencing identified
Abbasi, Montaser, Bar-Oz, Benjamin, Berger, Itai, Blanco, Elias, Elpeleg, Orly, Lindberg, Iris, Martín, Martin G, Pappo, Orit, Shteyer, Eyal, Wilschanski, Michael, Yourshaw, Michael, Zangen, David   +11 more
core   +2 more sources

A Family with Protein-Losing Enteropathy

Gastroenterology, 1974
This a report of a family of two sibships resulting from consanguineous matings of first cousins once removed. Eight of 28 children in the two sibships were affected by edema, growth retardation, diarrhea, abdominal pain, or clubbing, in varying combinations. In 4 patients, ascites developed and all 4 died.
M, Shani, E, Theodor, M, Frand, B, Goldman   +3 more
openaire   +2 more sources

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

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies. [PDF]

, 2015
Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others ...
BERNI CANANI, ROBERTO, CASTALDO, GIUSEPPE, Goulet O., Martìn M, Rosa B   +4 more
core   +1 more source

Platelet abnormalities and platelet-to-lymphocyte ratios in canine immunosuppressant-responsive and non-responsive enteropathy: A retrospective study in 41 dogs [PDF]

, 2021
Few studies have examined platelet alterations in dogs with chronic enteropathy. Our aim was to investigate platelet count (PLT), mean platelet volume (MPV), and platelet-to-lymphocyte ratio (PLR) in dogs diagnosed with immunosuppressant-responsive ...
Benvenuti, Elena, Esposito, Giada, Gori, Eleonora, Lubas, George, Marchetti, Veronica, Pierini, Alessio, Ruggiero, Pietro   +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

Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases

Frontiers in Pediatrics
IntroductionDGAT1 deficiency is a rare cause of congenital diarrhea and protein-losing enteropathy, with only 39 reported cases and limited characterization of missense variants. This study integrates molecular interpretation with clinical data to refine
Elie G. Malki, Ahmad Adawi, Mayar Idkedek, Yaqoub Ashhab, Nadirah Damseh, Nadirah Damseh, Mutaz Sultan, Mutaz Sultan   +7 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

An unusual case of multiple myeloma [PDF]

, 2013
The case concerns the unusual presentation of a non-secretory multiple myeloma with diarrhoea secondary to large bowel infiltration. In December 2009, a 74-year-old lady presented to hospital and complained of a two year history of intermittent ...
Delicata, Julian, Farrugia, Daniel
core  

Investigation of chronic diarrhoea in infancy. [PDF]

, 2013
Diarrhoea in infants and young children is defined as >200g/day of stools, and occurs when there is an imbalance between intestinal fluids absorption and secretion.
BERNI CANANI, Roberto, Cosenza, L, De Martino, L, Passariello, Annalisa, Pezzella, V, Terrin, Gianluca   +5 more
core   +1 more source