Results 51 to 60 of about 419 (137)

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

, 2017
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital disorder characterized by loss of smooth muscle contraction in the bladder and intestine. To date, three genes are known to be involved in MMIHS pathogenesis: ACTG2, MYH11,
Lupski, J.R. (James R.), Akdemir, Z.H.C. (Zeynep H. Coban), IJcken, W.F.J. (Wilfred) van, Burns, A.J. (Alan), Brosens, E. (Erwin), Rosenblatt, J. (Jonathan), De Graaf, B.M. (Bianca M), Muller, F. (Françoise), Wangler, M.F. (Michael F.), Tibboel, D. (Dick), Stoop, J.A. (Hans), Oury, J.-F. (Jean-François), Doukas, M. (Michael), Halim, D. (Danny), Alves, M.M. (Maria), Beaudet, A.L. (Arthur L.), Brouwer, R.W.W. (Rutger), Hofstra, R.M.W. (Robert)   +17 more
core   +1 more source

Long‐term growth and nutrition outcomes in children following intestinal transplantation

Journal of Pediatric Gastroenterology and Nutrition, Volume 80, Issue 3, Page 490-497, March 2025.
Abstract Objective Intestinal transplantation (ITx) has become an accepted option for children with serious complications from intestinal failure and parenteral nutrition (PN) dependence. We aimed to assess long‐term growth and nutritional outcomes in these patients.
Ahmad Miri, Angela K. Iverson, Nathan Law, Junghyae Lee, Ruben E. Quiros Navarrete, Emille M. Reyes‐Santiago, Warapan Nakayuenyongsuk, David F. Mercer, Luciano M. Vargas, Shaheed Merani, Wendy J. Grant, Alan N. Langnas, Ruben E. Quiros‐Tejeira   +12 more
wiley   +1 more source

Treatment Non-Compliance in BPAD Patients: A Study From a Tertiary Care Centre in Nepal

Journal of Karnali Academy of Health Sciences, 2020
Background: Treatment Non-compliance is a major challenge in the treatment of Bipolar Affective Disorder. This is a serious issue because non-compliance can give rise to lots of unwanted consequences.
Sandip Subedi, Kamala Paudel
doaj  

Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.

, 2000
Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were ...
Hitchcock, R, White, SM, Boyd, PA, Chamberlain, P, Sullivan, PB   +4 more
core   +1 more source

Indications and Outcomes of Fetal Cystoscopy for Lower Urinary Tract Obstruction: A Comprehensive Review

Prenatal Diagnosis, Volume 45, Issue 1, Page 89-101, January 2025.
ABSTRACT Fetal lower urinary tract obstruction (LUTO) encompasses a spectrum of rare congenital anomalies affecting the fetal urinary system, leading to significant morbidity and mortality. This condition, arising from various anatomical anomalies such as posterior urethral valves (PUV), urethral atresia, and cloacal malformations, disrupts normal ...
Ugo Maria Pierucci, Irene Paraboschi, Giulia Lanfranchi, Matthieu Peycelon, Gloria Pelizzo, Rodrigo Ruano   +5 more
wiley   +1 more source

Geoclimatic drivers of diversification in the largest arid and semi‐arid environment of the Neotropics: Perspectives from phylogeography

Molecular Ecology, Volume 33, Issue 14, July 2024.
Abstract The South American Dry Diagonal, also called the Diagonal of Open Formations, is a large region of seasonally dry vegetation extending from northeastern Brazil to northern Argentina, comprising the Caatinga, Cerrado, and Chaco subregions. A growing body of phylogeography literature has determined that a complex history of climatic changes ...
Wilson X. Guillory, Felipe de Medeiros Magalhães, Felipe Eduardo Alves Coelho, Isabel A. S. Bonatelli, Clarisse Palma‐Silva, Evandro M. Moraes, Adrian Antonio Garda, Frank T. Burbrink, Marcelo Gehara   +8 more
wiley   +1 more source

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report

Gastroenterology Research and Practice, 2009
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues.
Mehmet Melek, Yesim Edirne, Burhan Beger, Mecnun Cetin   +3 more
doaj   +1 more source

Congenital Mydriasis Associated with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)

, 2012
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare, congenital disease affecting smooth muscle peristalsis in the gastrointestinal tract and urinary bladder.
Collin McClelland; Grant Liu; Kudakwashe Chikwava
core  

Impact of COVID‐19 on paediatric chronic intestinal failure: A tertiary care children's hospital experience

Journal of Pediatric Gastroenterology and Nutrition, Volume 78, Issue 5, Page 1171-1179, May 2024.
Abstract Objectives Paediatric patients with intestinal failure (IF) are at risk for both gastrointestinal (GI) and systemic complications, thus depending on a functioning network of multidisciplinary care. Data on the clinical impact of coronavirus disease 2019 (COVID‐19) or the pandemic‐related restrictions are limited.
Johannes Hilberath, Anna‐Sophia Mast, Simon Scherer, Jörg Fuchs, Johannes Schulte, Ekkehard Sturm, Steven Warmann, Christoph Slavetinsky   +7 more
wiley   +1 more source

Antimicrobial Potential of Three Nepalese Medicinal Plants Against Multidrug Resistance Escherichia coli Isolates From Normal Individuals

The Scientific World Journal, Volume 2024, Issue 1, 2024.
Escherichia coli is one of the most common human and animal pathogens responsible for a broad spectrum of diseases. It has also been shown to be a significant reservoir of genes coding for antimicrobial drug resistance (AMR) and, therefore, is a useful indicator for resistance in bacterial communities. Azadirachta indica A.
Rabindra Prasad Timilsina, Soma Kanta Baral, Abinash Dhakal, Binod Dhungana, Bipin Acharya, Sultan Zahiruddin   +5 more
wiley   +1 more source