Results 81 to 90 of about 7,139 (182)

Early diagnosis and follow-up of cerebrotendinous xanthomatosis in infant siblings presenting with congenital diarrhea: A case study from Saudi Arabia

Molecular Genetics and Metabolism Reports
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic genetic disease resulting from defects in the bile acid metabolism. This report describes cases diagnosed with CTX at an exceptionally early age – 4 months (Patient #2 and #
Badr Mohammad Alsaleem, Amna Basheer Ahmed, Muhannad M. Alruwaithi, Tarig Yassin Alamery, Norah Nasser Alrajhi   +4 more
doaj   +1 more source

Parenteral nutrition in intractable diarrhea.

Arquivos de gastroenterologia, 1979
Twelve infants with protracted diarrhea, unmanageable by the usual procedures, were treated with Total Central Parenteral Nutrition. Eleven of them were less than six months old. Two infants died in the course of treatment; the other ten recovered.
R, Maggi, A, Acuña, M J, Saráchaga
openaire   +1 more source

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Gut and Liver, 2010
Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy.
doaj   +1 more source

Intractable Diarrhea from Cytomegalovirus Colitis in a Case with Hereditary Spherocytosis

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Cytomegalovirus (CMV) infection is a common viral infection worldwide, with a frequency as high as 90% in developing countries. Only 10% of primary CMV infection is symptomatic in immunocompetent patients, and it rarely causes specific complications.
Murat Ozkale, Oguz Canan, Suna Asilsoy, Nebil Bal, Aytul Noyan   +4 more
doaj  

IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom. [PDF]

Case Reports Immunol, 2020
Al Maawali A, Derfalvi B, Van Limbergen J, Issekutz A, Issekutz T, Ghandourah H, Rashid M.   +6 more
europepmc   +1 more source

Intractable chronic diarrhea associated with phenotypic diarrhea of infancy (tricho-hepato-enteric syndrome)

Acta Pediátrica de México, 2014
José Francisco Cadena-León, Rodolfo Rodríguez-Jurado   +1 more
doaj   +1 more source

Intractable colitis associated with chronic granulomatous disease in a young girl

The Turkish Journal of Pediatrics, 2015
Chronic granulomatous disease (CGD) is an autosomal recessive or X-linked disorder caused by NADPH oxidase deficiency leading to an impaired ability of reactive superoxide anion and metabolite formation and recurring severe bacterial and fungal ...
Aytaç Yaman, Zarife Kuloğlu, Figen Doğu, Aydan İkincioğulları, Arzu Ensari, Ergin Çiftçi, Aydan Kansu   +6 more
doaj  

Novel SKIC3 variants in tricho-hepato-enteric syndrome with hemochromatosis

Human Genome Variation
Tricho-hepato-enteric syndrome (THES), a rare autosomal recessive disorder caused by variants in the SKIC3 or SKIC2 gene, is characterized by intractable diarrhea, woolly hair, growth restriction and liver disease.
Kayo Ochiai, Yoshinori Aoki, Naoshi Yamada, Murasaki Aman, Atsushi Yamashita, Masatoshi Yamaguchi, Daisuke Nakato, Toshiki Takenouchi, Kenjiro Kosaki, Yuki Kodama, Hiroshi Moritake   +10 more
doaj   +1 more source

Ectopic pancreas presenting with intractable diarrhea: Case report

The Turkish Journal of Gastroenterology, 2011
Funda Uğur Kantar, Mesut Akarsu, Koray ATİLLA, Özgül SAĞOL, Müjde SOYTÜRK, Hale Akpınar   +5 more
doaj   +1 more source

Oral bismuth for chronic intractable diarrheal conditions?

Clinical and Experimental Gastroenterology, 2013
Sony S Thazhath, Mazhar Haque, Timothy H FlorinUniversity of Queensland and Mater Adult Hospital, South Brisbane, QLD, AustraliaObjective: Bismuth has antidiarrheal, antibacterial, and anti-inflammatory properties.
Thazhath SS, Haque M, Florin TH
doaj