Results 141 to 150 of about 81,010 (209)

Genetic Etiologies of Dystonia with Anarthria/Aphonia

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey   +7 more
wiley   +1 more source

Hyperhomocysteinemia and Vitamin B Deficiency as Potential Aggravating Factors in Huntington's Disease: A Prospective Monocentric Study

open access: yesMovement Disorders, EarlyView.
Abstract Background Although not confirmed, some studies have suggested that elevated homocysteine levels are common in patients with Huntington's disease (HD). Its clinical relevance remains unclear. Objectives We aimed to assess vitamin B and homocysteine levels in HD patients and explore the relationships among hyperhomocysteinemia, vitamin B ...
Salomé Puisieux   +16 more
wiley   +1 more source

Forecasting the impact of food‐provisioning and other stressors on a marine top‐predator population

open access: yesOikos, EarlyView.
Wildlife tourism can alter animal behavior, affect vital rates and diminish population viability but its impact in the context of other human‐ and environmental disturbances, remain largely unstudied. Using simulation models and leveraging a robust long‐term dataset spanning eight years, we evaluated the contribution of wildlife feeding, in the context
Valeria Senigaglia   +4 more
wiley   +1 more source

Convergence of Low‐Fertility Policies Beyond Policy Transfer: A Comparative Analysis of Korea and Hungary

open access: yesPublic Administration and Development, EarlyView.
ABSTRACT This study compares policy responses to persistent low fertility in Korea and Hungary, two countries facing similar demographic pressures but embedded in distinct institutional settings. It asks whether the diffusion of pronatalist policies has produced convergence in the design, implementation, and effects of fertility policy in these cases ...
Kilkon Ko, M. Jin Lee, Tamás Pesuth
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

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