Mitochondrial DNA (mtDNA) as fluid biomarker in neurodegenerative disorders: A systematic review.

Background: Several studies evaluated peripheral and cerebrospinal fluid (CSF) mtDNA as a putative biomarker in neurodegenerative diseases, often yielding inconsistent findings. We systematically reviewed the current evidence assessing blood and CSF mtDNA levels and variant burden in Parkinson's disease (PD), Alzheimer's disease (AD) and amyotrophic lateral sclerosis (ALS). Multiple sclerosis (MS) was also included as a paradigm of chronic neuroinflammation-driven neurodegeneration.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor gene NDUFAF1 biallelic variants (c.

Critical evaluation of Pap test adherence to routine screening in Amazonas State, Brazil.

Introduction: This study critically evaluates adherence to Pap test screening practices in cytology-based cervical cancer screening in the state of Amazonas over a 10-year period.

Materials And Methods: A retrospective analysis was conducted of the results of cytological screening examinations (Pap test) in Amazonas State from 2013 to 2023. For this purpose, Brazilian public databases Cervical Cancer Information System (SISCOLO) and Cancer Information System (SISCAN) (from The Department of Information and IT of the Unified Health System - DATASUS) were consulted.

Chronic Tic Disorders in Youth: Clinical Phenotypes and Response to Pharmacological Treatment with Aripiprazole.

Background/objectives: Tic disorders are neurodevelopmental conditions often associated with comorbidities like attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Our aims were: (a) in a sample of youth with tic disorders to explore the clinical and psychopathological characteristics of different phenotypes based on the presence of comorbid ADHD and/or ASD and gender; (b) in a subgroup of patients treated with Aripiprazole, to evaluate symptoms variation over time and to identify potential predictors of response.

Methods: A total of 95 subjects with tic disorders (age range 6 to 17.