Results 51 to 60 of about 111,824 (315)

Annual Report of the 2022 National Clinical Database: Decade‐Long Trends and Current Status of Gastroenterological Surgery in Japan

open access: yesAnnals of Gastroenterological Surgery, EarlyView.
ABSTRACT Aim The National Clinical Database (NCD) of Japan is the largest nationwide registry, covering over 95% of surgeries in the country. This 2022 annual report summarizes the short‐term outcomes of gastroenterological surgeries and discusses trends and insights over the past decade.
Koshi Kumagai   +19 more
wiley   +1 more source

Sphingosine-1-phosphate and ceramide are associated with health and atresia of bovine ovarian antral follicles

open access: yesAnimal, 2015
The follicle destiny towards ovulation or atresia is multi-factorial in nature and involves outcries, paracrine and endocrine factors that promote cell proliferation and survival (development) or unchain apoptosis as part of the atresia process.
C.G. Hernández-Coronado   +5 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair   +9 more
wiley   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli   +11 more
wiley   +1 more source

Sulpiride-Induced Hyperprolactinemia in Mature Female Rats: Evidence for Alterations in The Reproductive System, Pituitary and Ovarian Hormones [PDF]

open access: yesInternational Journal of Fertility and Sterility, 2014
Background The prevalence of hyperprolactinemia following administration of conven- tional antipsychotic drugs requires further investigation. The current study is designed to evaluate the effect of sulpiride (SPD)-induced hyperprolactinemia on ...
Sara Mostafapour   +4 more
doaj  

Evolutionary and ecological insights from vital staining of bivalve oocytes: A Red Queen at the sweepstakes?

open access: yesEcosphere, 2022
To determine the proportion of inviable oocytes that are spawned along with normal oocytes in marine bivalves, we turned to a time‐honored technique not previously used on invertebrate oocytes: the neutral red vital stain.
Peter G. Beninger   +3 more
doaj   +1 more source

Duodenal Atresia

open access: yesJournal of Neonatal Surgery, 2014
Please see ...
openaire   +3 more sources

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Atresia anal tipo III com presença de fístula vaginal e megacólon: Relato de caso

open access: yesPubvet, 2018
O presente relato de caso tem como objetivo apresentar um caso de atresia anal tipo III, com megacólon e fistula vaginal em cão sem raça definida. A técnica cirúrgica utilizada e a conduta pós cirúrgica com a realização de enemas diários e hidratação foi
Tairine Melo Costa   +7 more
doaj   +1 more source

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