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Nationwide carrier screening for congenital adrenal hyperplasia: integrated approach of CYP21A2 pathogenic variant genotyping and comprehensive large gene deletion analysis.
BMC Med Genomics
January 2025
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, 10400, Thailand.
Background: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD CAH) is an autosomal recessive disorder resulting from pathogenic variants in the CYP21A2 gene. The disorder exhibits variable clinical severity, with the classical form manifesting as salt-wasting crisis in neonates, while inducing ambiguous genitalia in females and precocious puberty in males through simple virilization. Identifying at-risk couples during the preconception stage holds significance for optimizing reproductive choices.
View Article and Find Full Text PDFWhat does it mean when the pleasant smells come and go? Correlation between UPSIT odor identification status and fluctuation of non-motor symptoms in Parkinson's disease.
Acta Neurol Belg
January 2025
The Department of Neurological Institute, Taichung Veterans General Hospital, Taichung, Taiwan.
Parkinson's disease (PD) is characterized by motor and non-motor symptoms, including olfactory dysfunction. Prior studies have shown that olfaction deteriorates with disease progression, however fluctuations in olfaction and related PD symptoms have been less explored. This study aimed to investigate correlations between changes in odor identification ability and PD symptoms.
View Article and Find Full Text PDFAnti-Amyloid Therapies for Alzheimer's Disease and Amyloid-Related Imaging Abnormalities: Implications for the Emergency Medicine Clinician.
Ann Emerg Med
January 2025
Departments of Emergency Medicine & Population Health, New York University Grossman School of Medicine, New York, NY; Geriatric Research, Education and Clinical Center, James J. Peters Veterans Affairs Medical Center, Bronx, NY.
Alzheimer's disease is the neurodegenerative disorder responsible for approximately 60% to 70% of all cases of dementia and is expected to affect 152 million by 2050. Recently, anti-amyloid therapies have been developed and approved by the Food and Drug Administration as disease-modifying treatments given as infusions every 2 to 5 weeks for Alzheimer's disease. Although this is an important milestone in mitigating Alzheimer's disease progression, it is critical for emergency medicine clinicians to understand what anti-amyloid therapies are and how they work to recognize, treat, and mitigate their adverse effects.
View Article and Find Full Text PDFDuration of "Good On" time per dose: Immediate-release carbidopa-levodopa vs. extended-release carbidopa-levodopa (IPX203, CREXONT®).
Parkinsonism Relat Disord
February 2025
Amneal Pharmaceuticals, LLC, 400 Crossing Boulevard, Bridgewater, NJ, USA.
Background: For Parkinson's disease patients with motor fluctuations, the duration of benefit per levodopa dose is a key metric that reflects a patient's clinical response.
Objective: Determine the difference in mean durations of "Good On" time per dose of subjects randomized to extended-release carbidopa-levodopa (ER CD-LD; IPX203; CREXONT®) vs. immediate-release (IR) CD-LD in the RISE-PD trial.
Effects of pharmacogenomics-guided treatment on medication adherence and the antidepressant switching rate in major depressive disorder.
Front Pharmacol
November 2024
Department of Clinical Pharmacy, The First Hospital of Hebei Medical University, Shijiazhuang, China.
Background: In the treatment of depression, medication plays a crucial role. However, insufficient patient adherence to medication often results in unsatisfactory treatment outcomes, increasing both the recurrence and rehospitalization rates of depression, and consequently imposing a greater economic burden on the healthcare system.
Objectives: Our objective was to examine the impact of pharmacogenomic testing on medication adherence and antidepressant switching rates among individuals diagnosed with depression.
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