Results 61 to 70 of about 2,484,895 (385)
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
BMC Women's Health, 2018 Background Herlyn-Werner-Wunderlich syndrome is a very rare congenital genitourinary anomaly characterized by uterus didelphys, blind hemivagina and ipsilateral renal agenesis. Case presentation Authors present a case of Herlyn-Werner-Wunderlich syndrome
Hidayatullah Hamidi, Nilab Haidary
doaj +1 more source
Building a Guaranteed Income to End the "Child Welfare" System
Columbia Journal of Race and Law, 2022 It is time for policemakers to reimagine and dismantle the child welfare system. This Article provides background on disparities in the child welfare system and argues that policymakers have used the child welfare system to police poverty and regulate ...
Melody Webb
doaj +1 more source
Posttraumatic Stress and Parenting Behaviors: The Mediating Role of Emotion Regulation [PDF]
, 2019 Maternal trauma has been linked with problematic parenting, including both harsh and permissive behaviors. However, little is known about mechanisms accounting for this association.
Brock, Rebecca L. +3 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source
Clinical Case Reports, 2023 Key Clinical Messages Diagnosis of rare even can be missed due to less familiarity with the disorder. In patients with muscle weakness, infectious causes are prioritized.
Sahar Noor +8 more
doaj +1 more source
Wrongful Birth Claims and the Paradox of Parenting a Child with a Disability [PDF]
, 2018 “Wrongful birth” is a controversial medical malpractice claim raised by the mother of a child born with a disability against a medical professional whose failure to provide adequate prenatal information denied her the chance to abort.
Yakren, Sofia
core +1 more source
How can you live without your kids? : Distancing from and embracing the stigma of “incarcerated mother [PDF]
, 2016 This article examines how incarcerated mothers constructed moral identities in the face of stigma. Analyzing data from participant observation and 83 in-depth interviews with incarcerated mothers, we show that mothers claimed moral identities by ...
Aiello, Brittnie, McQueeney, Krista
core +4 more sources
Why are Chinese mothers more controlling than American mothers? "My child is my report card".
Child Development, 2014 Chinese parents exert more control over children than do American parents. The current research examined whether this is due in part to Chinese parents' feelings of worth being more contingent on children's performance. Twice over a year, 215 mothers and
F. Ng, E. Pomerantz, Ciping Deng
semanticscholar +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source