Results 91 to 100 of about 117,944 (273)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
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
Evaluation of Varicella Immunity during Pregnancy in Apulia Region, Southern Italy
Vaccines, 2020 Varicella is a highly contagious, infectious disease caused by the varicella-zoster virus. Those at higher risk of severe complications are immunocompromised individuals, adults, non-immune pregnant women, and newborns. According to the gestational time,
Claudia M. Trombetta +4 more
doaj +1 more source
Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. [PDF]
, 2018 The restrictive lung disease can be exacerbated by growing fundus in women with osteogenesis imperfecta type III. Regional anesthesia can be performed in these women.
Al-Kouatly, Huda B. +3 more
core +1 more source
The Zika outbreak of the 21st century. [PDF]
, 2016 The Zika virus outbreak has captivated the attention of the global audience and information has spread rapidly and wildly through the internet and other media channels.
Ansari, Aftab +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Targeted decrease of portal hepatic pressure gradient improves ascites control after TIPS
Hepatology, EarlyView., 2022 The river diagram demonstrates that after transjugular intrahepatic portosystemic shunt insertion (TIPS) the majority of patients without ascites and 50% of the patients with ascites detectable at ultrasound, show the best response in the long term follow‐up.
Alexander Queck +14 more
wiley +1 more source
Understanding infant feeding choice from the Great Depression to the baby boom in the U.S. [PDF]
, 2018 Objectives: The objectives of this study were to describe the rates of and factors associated with exclusive breastfeeding (XBR), exclusive breast feeding + breast and bottle-feeding (Ever BR), and of exclusive bottle-feeding (XBOT) from 1925-1964 among ...
Pilles, Kiona Natasha
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
Кубанский научный медицинский вестник, 2016 The main problems of neonatal period is infectious pathology. A special place among which is an infection of the urinary system, the incidence of 23%. The main source for infectious pathologies of newborn is the mother.
O. A. Shulakova +2 more
doaj