Results 51 to 60 of about 8,937 (249)

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

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

, 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

Five-year experience of anorectal malformation with oesophageal atresia in tertiary care hospital

African Journal of Paediatric Surgery, 2020
Aim: We had done this study for TEF with Anorectal malformation and TEF with no Anorectal malformation in terms of age, sex, surgical outcomes and mortality.
Sarita Chowdhary, Pranay Panigrahi, Rakesh Kumar   +2 more
doaj   +1 more source

Anorectal gastric heterotopia as a rare cause of constipation: Case report and review of pediatric literature

JPGN Reports, EarlyView.
Abstract Gastric heterotropia (GHT) may present from the oropharynx to the anus and is commonly associated with Meckel's diverticula. Here, we describe a rare case of anorectal GHT localized to the distal anal canal. A 14‐month‐old male patient presented for evaluation of rectal bleeding, severe constipation, and abdominal distention with poor response
Kathryn M. Stephenson, Raj P. Kapur, Jeffrey R. Avansino, Lusine Ambartsumyan   +3 more
wiley   +1 more source

15-Year-old with neglected recto-vestibular fistula in western Uganda: a case report

Journal of Medical Case Reports, 2021
Background Teenage and late presentation of anorectal malformations are not uncommon in developing world. Some of the reasons for late presentation include but not limited to illiteracy, poverty, lack of awareness, and limited trained pediatric surgeons.
Felix Oyania, Meera Kotagal, Martin Situma   +2 more
doaj   +1 more source

Is a low sacral ratio associated with primary vesicoureteral reflux in children? [PDF]

, 2013
Introduction: The association of sacral anomalies with fecal incontinence and lower urinary tract dysfunction is known. The sacral ratio is proposed as a tool for evaluation of sacral development. The aim of this cross-sectional study was to evaluate the
Esfahani, S.T., Mehdizadeh, M., Rezaei-Hemami, M.   +2 more
core  

PIK3C2A‐Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect

Clinical Genetics, EarlyView.
Trio exome sequencing allowed the identification of two novel compound heterozygous variants in PIK3C2A, defining the fifth family presenting a PIK3C2A‐related syndrome characterized by pulverulent cataracts and deafness. Functional testing revealed impaired PI metabolism and primary dysfunction phenotype.
Adella Karam, Clarisse Delvallée, Bénédicte Gérard, Elodie Javey, Pascal Kessler, Valérie Pelletier, Jean‐Baptiste Lamouche, Nicolas Le May, Jean Muller, Hélène Dollfus   +9 more
wiley   +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

Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report [PDF]

, 2016
BACKGROUND: The occurrence of an anorectal malformation with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously been reported in the literature.
Akan W. Inyang, Itam H. Itam, John-Daniel C. Emehute, Thomas U. Agan, Usang E. Usang   +4 more
core   +1 more source

The Burden of Fecal Incontinence: Evaluating the Societal Impact in Terms of Economic Burden and Health‐Related Quality of Life

Neurogastroenterology &Motility, EarlyView.
Fecal incontinence imposes significant societal costs (€2424 per patient per quarter) and negatively affects HRQoL (mean score 0.72). Unemployed patients face higher costs and lower HRQoL. These findings highlight the need for targeted management strategies and resource allocation to mitigate the economic and personal burden of FI.
Sadé L. Assmann, Merel L. Kimman, Stéphanie O. Breukink, Daniel Keszthelyi   +3 more
wiley   +1 more source