Results 61 to 70 of about 531,213 (333)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo +4 more
wiley +1 more source
Reducing Maternal Mortality [PDF]
, 2010 Outlines MacArthur's efforts to reduce maternal mortality mainly in Mexico, Nigeria, and India by funding projects to develop scalable models, enhance health workers' skills, promote informed advocacy, and advance research.
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Why are so many Nepali women killing themselves? A review of key issues [PDF]
, 2015 Background: For decades the maternal mortality in Nepal was the lead cause of death among women, with great improvements in the maternal mortality ratio in the twentieth century the second most common cause has become more prominent.
Dhungel, A. +5 more
core +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue +16 more
wiley +1 more source
Characteristics Overview of Mother with Perinatal Death at Dr. Soetomo Hospital in 2015 [PDF]
, 2016 Objectives: to determine the frequency distribution of perinatal mortality and maternal characteristic features in terms of age, parity, gestational age and pregnancy complications in Dr.Soetomo Hospital Surabaya in 2015.
Haslinda, Y. (Yulisa) +1 more
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The impact of malaria control on infant mortality in Kenya [PDF]
, 2014 Since the early 2000s there has been a rapid intensification of malaria control efforts across Africa. I exploit baseline differences in the regional incidence of malaria coupled with the sharp timing of the intensified campaign to investigate the ...
Pathania, Vikram
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
Maternal and perinatal outcome in HELLP syndrome at VIMS, Ballari [PDF]
New Indian Journal of OBGYN, 2018 Objective: The aim of this study was to ascertain the presentation, diagnosis, severity and complications of HELLP syndrome and evaluation of the maternal and fetal outcome. Methods: Pregnancy induced hypertension (PIH) between 1st February 2016 and 31st
Shiva Kumar HC Hiriyur Chidanandaiah +3 more
doaj +1 more source
Under-5 Mortality in Tanzania: A Demographic Scenario. [PDF]
, 2012 The government of the United Republic of Tanzania has initiated the Integrated Management of Childhood Illness program to improve the health and wellbeing of children.
Hamisi, Hamisi F, Sathiya Susuman, A
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American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source