Results 31 to 40 of about 5,455 (207)

Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM

Biomedicines, 2021
Anorectal malformations (ARMs) are relatively common congenital abnormalities, but their pathogenesis is poorly understood. Previous gene knockout studies indicated that the signalling pathway mediated by the retinoic acid receptors (RAR) is instrumental
Manuel Mark, Marius Teletin, Olivia Wendling, Jean-Luc Vonesch, Betty Féret, Yann Hérault, Norbert B. Ghyselinck   +6 more
doaj   +1 more source

The Role of Patient Organisations—Patients’ and Parents’ Views and Experience of Hirschsprung’s Disease

Children
In many countries, patient organisations offer advice and the exchange of experiences to Hirschsprung’s disease patients and their families. Professional treatment by experienced health care providers and the availability of life-long multidisciplinary ...
Sabine Alexander, Annette Lemli
doaj   +1 more source

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

Disease Models & Mechanisms, 2014
Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to ...
Laura A. Runck, Anna Method, Andrea Bischoff, Marc Levitt, Alberto Peña, Margaret H. Collins, Anita Gupta, Shiva Shanmukhappa, James M. Wells, Géraldine Guasch   +9 more
doaj   +1 more source

Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review

, 2016
BACKGROUND: Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated ...
Venediktos V. Kapetanakis, Jones, K, Laurie Rigueros Springford, Giuliani, S, Kapetanakis, VV, Katie Jones, Connor, MJ, Martin J. Connor, Rigueros Springford, L, Stefano Giuliani   +9 more
core   +1 more source

High-resolution anorectal manometry in children [PDF]

Clinical and Experimental Pediatrics
Anorectal manometry is one of the motility tests in children performed by pediatric gastroenterologist. It evaluates the motility function of anorectal tract.
Yogesh Waikar
doaj   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Spectrum of colorectal surgery operations performed in a single paediatric surgery unit in sub-Saharan Africa

African Journal of Paediatric Surgery, 2014
Background: Colorectal surgery is a budding subspecialty of paediatric surgery and typifies the advances in the management of surgical conditions in children.
Taiwo A. Lawal, Dare I. Olulana, Olakayode O. Ogundoyin   +2 more
doaj   +1 more source

Congenital heart defects in children with Gastro-intestinal malformations

Український журнал Перинатологія і педіатрія, 2022
Background. Congenital malformations of the gastrointestinal (GI) tract are common birth defects detected in the neonatal period and usually present with signs of GI obstruction which at times can be life threatening.
A. Khanam, Sh. Abqari, R.A. Khan
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Case‐malformed signal detection and prioritisation using EUROmediCAT data for pharmacovigilance in pregnancy

British Journal of Clinical Pharmacology, EarlyView.
Aim Many women take medications during pregnancy. However, the risk to the fetus from most medications is uncertain. Congenital anomalies are one of the leading causes of infant death and contribute to long‐term disability. Signal detection methods can be used to systematically identify possible medication–anomaly associations that require further ...
Hannah Johnson, Helen Dolk, Maria Loane, Christine Damase‐Michel, Joanne Given, Hedvig Nordeng, Jorieke E. H. Bergman, Iain Carey, Elly Den Hond, Ester Garne, Florence Rouget, Lea Bruneau, Isabelle Monier, Anke Rissmann, Mary O'Mahony, Miriam Gatt, Renée Lutke, Joanna Sichitiu, Elisa Ballardini, Alessio Coi, Clara Cavero Carbonell, David Tucker, Joan Morris   +22 more
wiley   +1 more source