Results 31 to 40 of about 112,894 (234)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

VASCULAR LYMPHATIC MALFORMATION WITH UNCOMMON LOCALIZATION [PDF]

open access: yes, 2016
Introdução: As malformações vasculares linfáticas são entidades raras que afetam os vasos linfáticos. Os autores relatam um caso clínico de uma malformação linfática abdomino-pélvica. Caso Clínico: 28 anos, Gesta 2, Para 1.
Carmo, Olímpia   +8 more
core  

Missed opportunities for cervical cancer prevention during prenatal care [PDF]

open access: yes, 2011
A gravidez representa uma excelente oportunidade para prevenção do carcinoma cervical, já que o exame ginecológico faz parte da rotina de pré-natal.
COSTA, Juvenal Soares Dias da   +4 more
core   +2 more sources

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

open access: yesAnnals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins   +104 more
wiley   +1 more source

O enfermeiro na assistência do pré-natal de primigestas: a realidade de uma estratégia de saúde da família

open access: yesRevista Enfermagem Contemporânea, 2019
OBJETIVOS: Identificar a atuação do enfermeiro no pré-natal da Estratégia de Saúde da Família e analisar as percepções das primigestas em relação ao pré-natal. MÉTODO: A pesquisa é de abordagem qualitativa e quantitativa, do tipo descritiva exploratória,
Daiane Tamaris Weschenfelder   +2 more
doaj   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva   +13 more
wiley   +1 more source

ALCOHOL CONSUMPTION DURING PREGNANCY: ACTIONS OF NURSING IN PRENATAL CARE - A BIBLIOGRAPHICAL STUDY

open access: yesRevista de Pesquisa Cuidado é Fundamental Online, 2010
Objetivos: identificar as produções científicas em Enfermagem que abordam a temática do consumo de álcool na gestação nos últimos cinco anos; analisar, a partir das produções encontradas, as ações de Enfermagem no pré-natal quanto ao consumo de álcool ...
Lilia Molina, Sônia Souza
doaj   +4 more sources

PERSPECTIVAS EPIDEMIOLÓGICAS DO PRÉ-NATAL: UMA INVESTIGAÇÃO REALIZADA NA IV MEGA-AÇÃO DA FACENE/FAMENE

open access: yesRevista de Ciências da Saúde Nova Esperança, 2007
O pré-natal é um processo de extrema importância e deve ser encarado como um procedimento sine qua non para todas as gestantes, independente de idade, classe social, raça ou região, pois somente a partir desse acompanhamento será possível detectar ...
Mônica Dias Palitot   +5 more
doaj   +1 more source

Distal femoral morphology as a risk factor for osteoarthritis

open access: yesThe Anatomical Record, EarlyView.
Abstract Osteoarthritis (OA) is a leading cause of disability affecting millions of adults in the United States, commonly resulting in the need for total knee arthroplasty (TKA) to restore mobility and quality of life. This study investigates potential differences in baseline distal femoral shape between individuals who received TKA due to OA and a ...
Haley Horbaly
wiley   +1 more source

Histovariability and fossil diagenesis of Pissarrachampsa (Pseudosuchia, Notosuchia, Baurusuchidae) from the Upper Cretaceous of Southeast Brazil

open access: yesThe Anatomical Record, EarlyView.
Abstract Notosuchians were key components of western Gondwanan Cretaceous ecosystems in terrestrial predator niches and exhibited remarkable taxonomic and ecological diversity. Previous research has explored their physiology, metabolism, and histology, revealing varied growth patterns and life history strategies.
Tito Aureliano   +5 more
wiley   +1 more source

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