Results 41 to 50 of about 10,699 (250)

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

open access: yesBiomedicines, 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   +6 more
doaj   +1 more source

Evaluation of defecative function 5 years or longer after laparoscopic-assisted pull-through for imperforate anus [PDF]

open access: yes, 2011
Background: Laparoscopic anorectoplasty was introduced in 2000, but the procedure has not yet gained universal acceptance. Previous studies, including ours, reported satisfactory early postoperative outcome as compared with posterior sagittal ...
Chan, IHY, Tam, PKH, Wong, KKY, Wu, X
core   +1 more source

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

open access: yesDisease 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   +9 more
doaj   +1 more source

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

open access: yesChildren
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

Genome-wide copy number variation study in anorectal malformations [PDF]

open access: yes, 2013
Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity.
Baum, L   +36 more
core   +1 more source

Anal canal duplication in an 11-year-old-child [PDF]

open access: yes, 2013
Anal canal duplication (ACD) is the least frequent digestive duplication. Symptoms are often absent but tend to increase with age. Recognition is, however, important as almost half of the patients with ACD have concomitant malformations.
De Bruyne, Ruth   +8 more
core   +3 more sources

Oral Clefts with Associated Anomalies: Findings in the Hungarian Congenital Abnormality Registry [PDF]

open access: yes, 2005
BACKGROUND: Over the years, great efforts have been made to record the frequency of orofacial clefts in different populations. However, very few studies were able to account for the etiological and phenotypic heterogeneity of these conditions. Thus, data
Czeizel, Andrew E.   +2 more
core   +3 more sources

Congenital heart defects in children with Gastro-intestinal malformations

open access: yesУкраїнський 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

Clinical and radiological postoperative evaluation of posterior sagittal anorectoplasty in patients with upper and intermediate anorectal malformations [PDF]

open access: yes, 1997
The PSARP is today the most-used surgical technique for correction of high and intermediary anorectal malformations.There is much controversy in the literature about the post-operative evaluation of these cases.
Lederman, Henrique Manoel   +2 more
core   +2 more sources

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