Results 41 to 50 of about 12,966 (238)

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

Modern competency‐based teaching of human sexual development

Anatomical Sciences Education, EarlyView.
Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler, Alessandro Bilella, Christian M. Hammer   +2 more
wiley   +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