Results 81 to 90 of about 4,269,423 (255)

Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of “Incompatibility With Life” in a South African and Low‐and Middle‐Income Country Context

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as “lethal” or “incompatible with life,” contributing to diagnosis‐based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac ...
H. L. Malherbe, M. Araujo, L. Balimba, J. A. Joshi, P. Makhetha, M. Meiring, M. T. Mpe, D. Reddy, B. Shingwenyana, J. C. Carey   +9 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Paying primary health care centers for performance in Rwanda [PDF]

Paying for performance (P4P) provides financial incentives for providers to increase the use and quality of care. P4P can affect health care by providing incentives for providers to put more effort into specific activities, and by increasing the amount ...
Sturdy, Jennifer R., Gertler, Paul J., Vermeersch, Christel M.J., Basinga, Paulin, Binagwaho, Agnes, Soucat, Agnes L.B.   +5 more
core  

The Adequacy of Prenatal Care Utilization Index: its US distribution and association with low birthweight. [PDF]

, 1994
The proposed Adequacy of Prenatal Care Utilization Index is applied to data from the 1980 National Natality Survey to assess the adequacy of prenatal care utilization and its association with low birth-weight in the United States. The index suggests that
Kotelchuck, M
core   +1 more source

Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio, Vishani Nimish Patel, McKenna Walsh, Erick Messias, Ping‐I Lin   +4 more
wiley   +1 more source

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

Frontiers in Pediatrics
BackgroundGenomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes.
Yuying Zhu, Ke Wu, Hanying Wen
doaj   +1 more source

A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing

Molecular Genetics & Genomic Medicine, 2019
Background Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and
Fengchang Qiao, Chen Wang, Chunyu Luo, Yan Wang, Binbin Shao, Jianxin Tan, Ping Hu, Zhengfeng Xu   +7 more
doaj   +1 more source

Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases

Molecular Genetics & Genomic Medicine, 2020
Background The non‐invasive prenatal screening (NIPS) has been introduced into clinical practice with a high sensitivity and specificity. Although the false‐negative results are inevitable and important, limited false‐negative NIPS results have been ...
Ying Lin, Dong Liang, Yan Wang, Hang Li, An Liu, Ping Hu, Zhengfeng Xu   +6 more
doaj   +1 more source

Impact of "Seguro Popular" on Prenatal Visits in Mexico, 2002-2005: Latent Class Model of Count Data with a Discrete Endogenous Variable [PDF]

We employ a latent class model to assess the impact of Mexico's Seguro Popular ("SP") program on the number of prenatal visits in a cross-sectional sample of 4,381 women who gave birth during 2002-2005.
Jeffrey E. Harris, Sandra G. Sosa-Rubi
core  

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source