Pathology of neuromuscular disorders of the small intestine and colon
S Krishnamurthy, MD Schuffler - Gastroenterology, 1987 - Elsevier
A variety of pathological abnormalities of the smooth muscle and myenteric plexus result in
clinical syndromes of disordered small intestinal and colonic motility. These pathological …
clinical syndromes of disordered small intestinal and colonic motility. These pathological …
[HTML][HTML] Classification and diagnostic criteria of variants of Hirschsprung's disease
F Friedmacher, P Puri - Pediatric surgery international, 2013 - Springer
Abstract “Variants of Hirschsprung's disease” are conditions that clinically resemble
Hirschsprung's disease (HD), despite the presence of ganglion cells in rectal suction …
Hirschsprung's disease (HD), despite the presence of ganglion cells in rectal suction …
Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare disorder of
enteric smooth muscle function affecting the intestine and bladder. Patients with this severe …
enteric smooth muscle function affecting the intestine and bladder. Patients with this severe …
Chronic intestinal pseudo-obstruction: treatment and long term follow up of 44 patients
S Heneyke, VV Smith, L Spitz, PJ Milla - Archives of disease in …, 1999 - adc.bmj.com
AIMS To document the long term course of chronic idiopathic intestinal pseudo-obstruction
syndrome (CIIPS) in children with defined enteric neuromuscular disease, and the place and …
syndrome (CIIPS) in children with defined enteric neuromuscular disease, and the place and …
Variants of Hirschsprung disease
P Puri, JH Gosemann - Seminars in Pediatric Surgery, 2012 - Elsevier
Variants of Hirschsprung disease are conditions that clinically resemble Hirschsprung
disease, despite the presence of ganglion cells in rectal suction biopsies. The …
disease, despite the presence of ganglion cells in rectal suction biopsies. The …
Megacystis microcolon intestinal hypoperistalsis syndrome
P Puri, M Shinkai - Seminars in pediatric surgery, 2005 - Elsevier
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most
severe form of functional intestinal obstruction in the newborn. The major features of this …
severe form of functional intestinal obstruction in the newborn. The major features of this …
Variant Hirschsprung's disease
P Puri - Journal of pediatric surgery, 1997 - Elsevier
There are many clinical conditions that resemble Hirschsprung's disease despite the
presence of ganglia cells on rectal biopsy. This group has focused its research interest into …
presence of ganglia cells on rectal biopsy. This group has focused its research interest into …
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
N Assia Batzir, P Kishor Bhagwat, A Larson… - Human …, 2020 - Wiley Online Library
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical
spectrum with megacystis‐microcolon intestinal hypoperistalsis syndrome and chronic …
spectrum with megacystis‐microcolon intestinal hypoperistalsis syndrome and chronic …
New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome …
L Tuzovic, S Tang, RS Miller, L Rohena… - Fetal diagnosis and …, 2015 - karger.com
Objective: To identify the molecular basis for prenatally suspected cases of megacystis
microcolon intestinal hypoperistalsis syndrome (MMIHS)(MIM 249210) in 3 independent …
microcolon intestinal hypoperistalsis syndrome (MMIHS)(MIM 249210) in 3 independent …
Megacystis‐microcolon‐intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature
G Annerén, S Meurling, L Olsen - American journal of medical …, 1991 - Wiley Online Library
We present 2 new patients with the megacystis‐microcolon‐intestinal hypoperistalsis
syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment …
syndrome (MMIHS), review the literature, and discuss the prenatal diagnosis and treatment …