Results 91 to 100 of about 89,885 (282)
American 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
BJS (British Journal of Surgery), EarlyView., 2020 Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester +16 more
wiley +1 more source
Качественная клиническая практика, 2019 Premature newborns are group of high risk on development of infectious complications therefore the choice of effective and safe antibacterial therapy is relevant for them.
A. M. Kazanova +5 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta +17 more
wiley +1 more source
Revista Panamericana De Salud Publica-pan American Journal of Public Health, 2007 OBJECTIVE To compile, consolidate, and analyze information obtained in surveys conducted by the MEASURE DHS [Demographic and Health Surveys] program, concerning obstetric care and pregnancy complications for women in Latin America and the Caribbean, in ...
J. Souza +3 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Unveiling the potential role of the shock index in maternal sepsis: reality or fantasy?
The Journal of Maternal-Fetal & Neonatal MedicineObjective Maternal sepsis continues to be a maternal health problem associated with 75,000 deaths per year worldwide, representing a greater burden in low- and middle-income countries (LMICs).
María Fernanda Escobar +9 more
doaj +1 more source
Treatment of the vaginal disbiotic disorders in pregnant women before delivery
Медицинский совет, 2019 The urgency of the problem of vaginal infection is determined by its highest prevalence in the structure of obstetric-gynecological morbidity.
V. L. Tyutyunnik +3 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Медицинский вестник Юга России, 2011 Purpose: To estimate the influence of human immunodeficiency virus (HIV) infection on pregnancy, childbirth and neonatal status.Materials and Methods: In total, 54 pregnant women infected with HIV-infection (study group).
A. N. Rymashevsky +3 more
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