Results 101 to 110 of about 5,507,798 (394)

Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif   +3 more
wiley   +1 more source

Feasibility and Acceptability of Screening for Adverse Childhood Experiences in Prenatal Care

open access: yesJournal of Women's Health, 2018
Introduction: Adverse childhood experiences (ACEs) are common among pregnant women and contribute to increased risk for negative perinatal outcomes, yet few clinicians screen prenatal patients for ACEs.
T. Flanagan   +5 more
semanticscholar   +1 more source

Trends in Maternal and Child Health Indicators in Making Connections Sites [PDF]

open access: yes, 2007
Reviews the rates of teen births, low birth-weight babies, and first-trimester prenatal care received, as a share of total births, in Casey's Making Connections initiative neighborhoods.
G. Thomas Kingsley, Jessica Cigna
core  

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

[Assessment of prenatal care for indigenous women in Brazil: findings from the First National Survey of Indigenous People's Health and Nutrition].

open access: yesCadernos de Saúde Pública, 2019
This study assesses prenatal care for indigenous women 14-49 years of age with children under five years of age in Brazil. The First National Survey of Indigenous People's Health and Nutrition assessed 3,967 women who met these criteria, of whom 41.3% in
Luiza Garnelo   +7 more
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Ultrasonographic Prenatal Diagnosis: Unveiling the Path to Improved Antenatal Care [PDF]

open access: gold, 2023
Roberta Granese   +5 more
openalex   +1 more source

Perceptions of pregnant women about prenatal care in primary health care.

open access: yesRevista Gaúcha de Enfermagem, 2019
OBJECTIVE To understand the perceptions of pregnant women about the care received during prenatal care, in the field of primary health care. METHOD Qualitative study, based on Grounded Theory. Data collection was performed from August to December 2016,
Débora do Vale Pereira do Livramento   +5 more
semanticscholar   +1 more source

Analyzing the impact of prenatal care on infant health: do we have useful input and output measures? [PDF]

open access: yes
Recent work raises questions about the input and output measures typically used to estimate the impact of prenatal care on infant health: self-reported prenatal care may generate biased estimates of the impact of prenatal care on infant health, and ...
Jeanne Wendel   +3 more
core  

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

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