Results 31 to 40 of about 4,863,546 (170)

Genetics of Hirschsprung’s Disease

, 2019
Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate ...
Tang, SM, Garcia-Barcelo, MM, Tam, PKH
core   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

Journal of Pediatric Surgery Case Reports, 2015
We present a rare family consisting of a 10-month-old boy with complete Currarino syndrome associated with Hirschsprung's disease. His mother had been diagnosed as having incomplete Currarino syndrome.
Shigeyuki Furuta, Hideaki Sato, Shiho Hamano, Hiroaki Kitagawa   +3 more
doaj   +1 more source

Colostomy in Anorectal Malformation and Hirschsprung’s Disease in Infants and Children [PDF]

, 2018
Background: There are numerous and frequent common complications following construction of large bowel stomas, which may lead to significant morbidity and mortality. The overall morbidity from colostomy has been reported to be as high as 42-75%.
Zamil, Ali Laibi, Radhi, Osamah Abdul-Kadim, Hasan, Helen Samer   +2 more
core   +1 more source

Prevalence and Association of Congenital Heart Disease with Hirschsprung’s Disease

Siriraj Medical Journal
Objective: Neurocristopathies play a role as pathogenesis of Hirschsprung’s disease and congenital heart diseases (CHDs). This study seeks to identify concomitant deformities, syndromes, and/or associations associated with Hirschsprung’s disease warrant
Ravit Ruangtrakool, Thawanrat Charoenchantra   +1 more
doaj   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Parenteral nutrition and hospital outcomes in Australian adults: A descriptive cohort study

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background There is limited information regarding real‐world use of parenteral nutrition in hospitals. The objective of the study was to provide a real‐world description of parenteral nutrition administration in hospitalized patients. Methods This was a descriptive cohort study in 507 hospitalized adults who received parenteral nutrition at ...
Frank M. P. van Haren, Sumeet Rai, Andrew Thomson, Josie Russell‐Brown, Mary Nourse, Shakira Spiller, Louise Herlihy, Sean Weng Chan, Peter Velloza, Matthew H. Anstey, Robert N. Palmer, Bianca Mammana, Tania Elderkin, Adam Visser, Matt Brain, Sarah Mineall, Emma J. Ridley   +16 more
wiley   +1 more source

Clinical and surgical aspects of Hirschsprung’s disease [PDF]

, 2011
Hirschsprung’s disease is an important cause of intestinal obstruction or constipation in newborns and children. It is characterized by lack of ganglion cells extending from distal in the internal anal sphincter to proximal in the colon or small bowel ...
Schulten - Vieira Travassos, D.
core   +1 more source

Transcolostomy-site endorectal pullthrough for Hirschsprung’s disease [PDF]

, 2015
Purpose To present our results for an endorectal pullthrough operation as the second stage for the treatment of Hirschsprung’s disease through the colostomy site.Materials and methods This study included 13 patients, four girls and nine boys.
Ibrahim, IA, Osman, MA
core   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

JPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund, Susanne Schibli, Christiane Sokollik   +2 more
wiley   +1 more source