Results 41 to 50 of about 419 (137)

Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes

open access: yes, 2017
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic ...
Sobreira, N.   +7 more
core   +2 more sources

Exome analysis summary for six probands with MMIHS due to ACTG2 mutations.

open access: yes, 2014
Exome analysis summary for six probands with MMIHS due to ACTG2 mutations.
Liene Kornejeva (544130)   +22 more
core   +1 more source

A case of yogurt central line‐associated bloodstream infection in a child with intestinal failure

open access: yesNutrition in Clinical Practice, Volume 41, Issue 3, Page 968-973, June 2026.
Abstract Central line‐associated bloodstream infections (CLABSI) are a significant cause of morbidity in children with intestinal failure (IF). Probiotic therapy is discouraged in patients with IF because of the increased risk of bacteremia with the probiotic organism.
Nasiha Rahim   +6 more
wiley   +1 more source

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice [PDF]

open access: yes, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary bladder and defective intestinal motility. The genetic basis of MMIHS has been ascribed to spontaneous and
Brooks, AS   +24 more
core   +4 more sources

Radiologic features of MMIHS due to de novo ACTG2 mutations.

open access: yes, 2014
A.) An infant subject from our cohort (Fam28-1) underwent an upper GI study with small bowel follow-through. Contrast was administered beyond the pylorus (left panel, arrow) in this patient who had undergone a previous Ladd procedure.
Liene Kornejeva (544130)   +22 more
core   +1 more source

Isolated intestinal transplantation for megacystis microcolon intestinal hypoperistalsis syndrome: Case report

open access: yes, 2014
MMIHS is a rare congenital disease. It is characterized by distended urinary bladder, small colon and intestinal hypoperistalsis, or aperistalsis with normal morphology. There is no specific treatment for MMIHS, and most patients have to be maintained by
曾勝弘   +1 more
core   +1 more source

Perlecan, CollagenXVIII, and Agrin Expression in Normo‐, Hypo‐, and Aganglionic Segments in Hirschsprung's Disease

open access: yesNeurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
The secretory heparan sulphate proteoglycans perlecan, agrin, collagen18A1 are expressed in the periganglionic sheath of enteric ganglia in resectates of Hirschsprung's disease patients and non‐Hirschsprung controls. ABSTRACT Background Secretory heparan sulphate proteoglycans (HSPGs) interact with various morphogens, growth factors, and signaling ...
Nico van den Beld   +6 more
wiley   +1 more source

Megacystis microcolon intestinal hypoperistalsis syndrome

open access: yesThe Pan African Medical Journal, 2018
A 34-year old gravida03 para02 woman with fetal bilateral hydronephrosis (A), greatly distended bladder and mild polyhydramnios, detected during a prenatal ultrasound.
Nishat Fatema1, Houda Nasser Al Yaqoubi
doaj   +1 more source

Distribution of Clba Gene and Its Correlation With Antimicrobial Resistance Patterns in MDR E. coli From Diverse Host Groups

open access: yesMicrobiologyOpen, Volume 14, Issue 6, December 2025.
The clbA gene, encoding the genotoxin colibactin, was present in 13.0% of Multidrug‐resistant (MDR) E. coli isolates, with a significantly higher prevalence observed in clinical patients (25.0%) compared to other host groups. clbA‐positive isolates demonstrated a markedly enhanced resistance profile, including 100% resistance to critical antibiotics ...
Soma Kanta Baral   +4 more
wiley   +1 more source

Occupational Health Knowledge and Safety Practice Among Hydropower Construction Workers in Nepal: A Cross‐Sectional Study

open access: yesHealth Science Reports, Volume 8, Issue 11, November 2025.
ABSTRACT Background and Aims The construction sector in Nepal has expanded considerably, accompanied by various occupational health risks due to inadequate knowledge and safety protocols. This study evaluated the knowledge and safety practices of Construction workers working at a hydropower construction site. Methods A cross‐sectional study was carried
Khadga Bahadur Shrestha   +3 more
wiley   +1 more source

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