Results 131 to 140 of about 1,227,700 (219)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

Family Medicine Education and Training in Sub-Saharan Africa. [PDF]

open access: yesFam Med
Mash R   +6 more
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem   +9 more
wiley   +1 more source

The Effect of Family-Centered Education on the Care Burden of Family Caregivers of the Elderly with Cancer: A Quasi-experimental Study. [PDF]

open access: yesAsian Pac J Cancer Prev, 2022
Wasmani A   +4 more
europepmc   +1 more source

Posterior Disconnection Syndrome in Early‐Stage Adult‐Onset Cerebral Adrenoleukodystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adult‐onset cerebral adrenoleukodystrophy is potentially treatable but often difficult to recognize before advanced cerebral involvement. Herein, we describe three men with early‐stage disease who initially presented with subtle visual complaints rather than subcortical dementia. Targeted neuropsychological testing revealed higher‐order visual
Kazuto Katsuse   +13 more
wiley   +1 more source

Certain Metabolic Syndrome Component Combinations are Linked to Increased Risk of Hypogonadism in Taiwanese Men

open access: yesDiabetes, Metabolic Syndrome and Obesity
Yu-Han Hong,1 Kuang-Chen Hung,2– 5 Chih-Li Lin,6 Chia-Lien Hung,7 Shih-Kai Tu,1 Deng-Ho Yang,5,7– 9 Chun-Cheng Liao1,5– 7 1Department of Family Medicine, Taichung Armed Forces General Hospital, Taichung, Taiwan; 2Department of Surgery, Kaohsiung Veterans
Hong YH   +6 more
doaj  

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