Results 81 to 90 of about 10,947 (203)
Treatment of Congenital Rectal Fistulae Associated with Imperforate Anus in Females
The results of perineal proctoplasty in 10 cases of congenital low rectal fistulas associated with imperforate anus in female babies have been presented.
A. K. Waklu, R. K. Tandon
doaj +1 more source
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders [PDF]
BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other ...
Chitayat, D +3 more
core
Pattern and Factors Associated with Congenital Anomalies among Young Infants Admitted at Bugando Medical Centre, Mwanza, Tanzania. [PDF]
Congenital anomalies or birth defects are among the leading causes of infant mortality and morbidity around the world. The impact of congenital anomalies is particularly severe in middle- and low-income countries where health care resources are limited ...
Chalya, Phillipo L +4 more
core +1 more source
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione +12 more
wiley +1 more source
Studies of Marine Bryozoa. IX, Phylactellipora [PDF]
Author Institution: Department of Biology, College of New Rochelle, New Rochelle, New ...
Rogick, Mary Dora
core
Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype. [PDF]
We present the prenatal case of a 12.5-Mb duplication involving 6q25-qter and a 12.2-Mb deletion encompassing 10q26-qter diagnosed by aCGH, while conventional karyotype showed normal results.
Marinescu, Ponnila S +4 more
core +1 more source
ABSTRACT Background Johanson‐Blizzard syndrome (JBS) is an exceedingly rare, autosomal recessively inherited disorder. It affects both males and females equally. Exocrine pancreatic insufficiency is the most common finding of the syndrome. The clinical presentation varies significantly among cases.
Hanaa Ktyman +4 more
wiley +1 more source
Rectal diaphragm in a patient with imperforate anus and rectoprostatic fistula
The association of rectal diaphragm in an imperforate anus has not been reported until now. A 1-year-old male presented with right transverse colostomy for high anorectal malformation.
Thakur Ashokanand +3 more
doaj
Primary presacral neuroendocrine tumor associated with imperforate anus
Background Presacral masses are unusual growths that have a limited differential diagnosis, typically not including neuroendocrine tumors (NETs). Classically, NETs are well-differentiated gastroenteropancreatic tumors of probable benign behavior.
Liu Chen +3 more
doaj +1 more source
Abstract Aims The prevalence of diabetes and obesity continues to rise in women of reproductive age, with significant implications for both mother and foetus. Glucagon‐like peptide‐1 receptor agonists are effective treatments of diabetes and obesity. However, no Glucagon‐like peptide‐1 receptor agonists are currently approved for use during pregnancy ...
Claire H. Parker +3 more
wiley +1 more source

