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Serum Immunoglobulin G Levels and Nicastrin Variation in Hidradenitis Suppurativa.
JAMA Dermatol
January 2025
Centre for Molecular Medicine and Biobanking, University of Malta, Malta.
Importance: Variation in nicastrin (NCSTN) is associated with a monogenic subtype of hidradenitis suppurativa. Dysregulation of humoral immunity has been suggested as a potential mechanistic link between NCSTN variation and hidradenitis suppurativa. There is a paucity of biomarkers that can predict disease-associated variation.
View Article and Find Full Text PDFThe novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.
Eur J Neurol
February 2025
1st Department of Neurology, Eginition Hospital, National and Kapodistrian University of Athens, Athens, Greece.
Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.
View Article and Find Full Text PDFHereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
Eur J Neurol
February 2025
Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv, Israel.
Background: Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.
View Article and Find Full Text PDFA Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Mol Genet Genomic Med
February 2025
Medical Genetics, Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.
Background: Sensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal-dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β-tubulin isotype. To date, only eight more families with similar TUBB4B-associated sensorineural disease (SND) have been reported.
View Article and Find Full Text PDFLipid-Lowering Efficiency and Safety of Alirocumab 300 mg Using a 2-mL Autoinjector Device in Real-World Practice: The MARS Study.
Drugs Real World Outcomes
January 2025
Department of Cardiology, Angiology and Intensive Care Medicine, German Heart Center of the Charité, Berlin, Germany.
Background: Alirocumab is a fully human monoclonal antibody to proprotein convertase subtilisin kexin type 9 used for the reduction of low-density lipoprotein cholesterol (LDL-C) in high-risk patients not reaching their LDL-C target. Recently, a 2-mL prefilled autoinjector has been developed to support the monthly 300-mg dosing regimen with a single-injection administration.
Methods And Objectives: Monthly application of 300 mg AlirRocumab (Praluent) using the 2-mL SYDNEY Device (MARS) is a non-interventional, open, prospective, multi-center cohort study conducted in Germany between 2021 and 2023 with an observational period of 12 weeks.
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