Background: About half of the cases of obsessive-compulsive disorder (OCD) occurring in childhood/adolescence occur with similar symptoms both in childhood and adulthood. Immunologic stress is claimed to be a risk factor in the etiology of childhood onset OCD. Our aim was to elucidate the relationship between childhood onset OCD risk and MHC complex I and II alleles.
Methods: MHC alleles of 49 OCD children together with 277 healthy children (aged 4-12) were analyzed by PCR. Results were evaluated by using univariate analysis and multivariate logistic regression analysis.
Results: A2, A29, C4, DRB3.1, and DRB1*16 alleles were found to increase the risk of OCD.
Discussion: The relationship found between DRB locus and OCD in this study was remarkable since there have been studies on different populations reporting similar relationship between DRB locus and rheumatoid arthritis, which is also an AID. MHC class I and class II alleles were found to increase the risk of OCD in our study, which serves as a suitable model for studies suggesting that MHC genes do not work completely independently. Even though the MHC class I and II genes are considered to have different roles in immune response, in fact they tend to work in cooperation. As in previous studies on AIDs, there is a linear relationship between MHC class II alleles and OCD risk.
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http://dx.doi.org/10.55730/1300-0144.5333 | DOI Listing |
Neuro Endocrinol Lett
December 2024
Department of Psychiatry, Faculty of Medicine and Dentistry, University Palacky Olomouc, University Hospital, Olomouc, Czech Republic.
Introduction: Panic disorder (PD), obsessive-compulsive disorder (OCD), and borderline personality disorder (BPD) are associated with various psychosocial factors that may influence their onset and psychopathology. Dissociation encompasses a wide range of manifestations, from benign experiences to severe mental health issues. Research comparing childhood trauma and dissociation, general psychopathology, and the onset of the disorder among patients with PD, OCD, and BPD has not yet been published.
View Article and Find Full Text PDFGenet Med
December 2024
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.
Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.
Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.
Genet Med
December 2024
Movement Disorders Program, Department of Neurology and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA. Electronic address:
Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.
Cerebellum
December 2024
Department of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.
Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.
View Article and Find Full Text PDFBackground: There is a lack of evidence to suggest that outcomes of adolescent and adult-onset glomerular disease differ. Still, most glomerular disease trials include adults but exclude adolescents.
Methods: We designed a retrospective study using the CureGN database to compare individuals with adolescent-onset glomerular disease relative to individuals with older and younger age at onset.
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