Results 51 to 60 of about 12,962 (232)

Ileocecal valve atresia with volvulus

Journal of Pediatric Surgery Case Reports, 2022
Atresia of the ileocecal valve is a very rare etiology of neonatal intestinal obstruction. We report the case of a newborn who presents a neonatal occlusion in whom the exploration has found a volvulus of the last intestinal loop and the cecum which were
Hicham Ajdar, Abdelhalim Mahmoudi, Othmane Alaoui, Khalid Khattala, Youssef Bouabdallah   +4 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Atresia jejuno-ileal: análise de 47 casos. [PDF]

, 2002
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Bianchini, Flávio
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Atresia intestinal en pediatría

, 2022
La atresia intestinal es la falta de formación completa de una porción del conducto intestinal normalmente en el íleon. Es la tercera parte de las atresias son por prematuro, el 39 % de las atresias son intestinales, les sucede a hombres y mujeres por ...
Puente De La Vega Campos, Renato
core  

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Complicated Gastroschisis Is Associated with Greater Intestinal Morbidity than Gastroschisis or Intestinal Atresia Alone

, 2017
Aim The study aimed to compare outcomes and intestinal morbidity among complicated gastroschisis, isolated gastroschisis, and intestinal atresia.
Mikko Pakarinen, Antti Koivusalo, Annika Mutanen   +2 more
core   +1 more source

Follicle Stimulating Hormone in Cattle Breeding: Fundamentals, Innovations, and Scope

Animal Research and One Health, EarlyView.
FSH is crucial in cattle reproduction, with exogenous administration enhancing breeding and embryo production. Recombinant FSH offers advantages over pituitary‐extracted variants, including fewer injections, reduced stress, and safer production. These innovations improve breeding efficiency, optimize reproductive outcomes, and contribute to sustainable
Muhammad Shahzad, Hubdar Ali Kolachi, Jesse Oluwaseun Ayantoye, Xiaomeng Zhang, Muhammad Usman Mehmood, Rajilan Hilali Shanga, Pengcheng Wan, Xueming Zhao   +7 more
wiley   +1 more source

An Overview of the Intestinal Atresia Birth Defect

, 2023
Intestinal atresia is the general term for a vast range of complete obstructions anywhere within an individual’s intestines. It is a congenital anomaly due to a change in the DNA sequence during fetal development.
Kornstad, Abigail
core   +1 more source