Results 71 to 80 of about 358,184 (353)

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

BMC Medical Genomics, 2023
Background Short-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in
Ying Peng, Lin Zhou, Jing Chen, Xiaoliang Huang, Jialun Pang, Jing Liu, Wanglan Tang, Shuting Yang, Changbiao Liang, Wanqin Xie   +9 more
doaj   +1 more source

FACTORS AFFECTING THE USE OF MODERN PRENATAL AND MATERNITY SERVICES IN GOT AGULU SUB-LOCATION, WESTERN KENYA [PDF]

, 2006
A main goal of the Kenyan government's Safe Motherhood Initiative is to increase the number of babies delivered in modern health facilities. Mothers are encouraged to begin prenatal care visits early in their pregnancy and to continue care until the ...
NANGENDO, Stevie M.
core   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Congenital Toxoplasmosis in Austria: Prenatal Screening for Prevention is Cost-Saving [PDF]

, 2017
Background: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss ...
Hayde, Michael, Kasper, David C., Prusa, Andrea-Romana, Sawers, Larry, Stillwaggon, Eileen, Walter, Evelyn   +5 more
core   +1 more source

A multilevel analysis of prenatal care and birth weight in Kenya [PDF]

, 2014
The paper investigates the effect of adequate use of prenatal care on birth weight in Kenya using data from the Kenya Demographic and Health Survey of 2008 - 2009 together with additional administrative data.
Awiti, Japheth Osotsi
core   +1 more source

Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter, Richard Hastings, Nicola Enoch, Samantha Flynn, Matthew Randell, Chris Stinton   +5 more
wiley   +1 more source

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

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, Sankar Mukhopadhyay, Wai Lee, Wei Yang   +3 more
core  

Oral Health Intervention: A Multifaceted Approach to Improve Oral Health Care during Pregnancy [PDF]

, 2016
Introduction: Early Childhood Caries (ECC) is the most common chronic disease of childhood Mothers’ oral health status is a strong predictor of the oral health status of their children 2009: Vermont spends $2.7 million treating children ages 0-5 with ...
Davis, Wendy, Fontaine, Kristin, Ford, Tabitha, Frechette, Gregory, Sakamori, Sruthi, Seufert, Caleb, Shu, I-hsiang, Silveira, Patrick   +7 more
core   +1 more source