Results 81 to 90 of about 176,392 (251)
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues. [PDF]
Afr J Disabil, 2022 Kromberg JGR, Kerr R.
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green +2 more
wiley +1 more source
Psychosocial Issues of Retirement in Iran: A Qualitative Study
Sālmand, 2021 Objectives: Retirement is a potentially challenging event in old age that has different effects on older people’s lives. This study aims to identify the psychosocial consequences, barriers, and facilitators of adaption to retirement in Iran.
Zohreh Alavi +2 more
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Psychosocial issues and concerns of cancer patients due to COVID-19 pandemic lockdown. [PDF]
PLOS Glob Public Health, 2022 Veeraiah S +6 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
ThE profile of anthRopometRy and psyChosocial issuEs on campus (TERRACE) study: A study protocol and preliminary results. [PDF]
Dialogues Health, 2022 Adebayo O +11 more
europepmc +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Challenges During the Coronavirus Disease 2019 Pandemic: Diabetes Control and Psychosocial Issues in Children with Type 1 Diabetes Mellitus and Their Mothers. [PDF]
Turk Arch Pediatr, 2023 Canoruç Emet D +8 more
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source