RESUMO
INTRODUCTION: The epidemiology of Juvenile Dermatomyositis (JDM) in non-Caucasian population is poorly described. We performed a study of patients followed up in the French West Indies for JDM. We aimed to describe clinical and biological specificities during childhood. METHODS: Retrospective study covering the period from Januarys 2000-2023. Listings of patients were obtained from multiple sources, namely computerized hospital archives, registry of referent pediatricians and adult specialists in internal medicine and the French National Registry for rare diseases. JDM and organ involvement were defined according to the international ILAR criteria. RESULTS: Twenty-one patients were included over a 23 year-period. Median age at onset was 8.1 years (Range: 2.5-13.9) with a median follow up of 8 years (Range: 2-19). Two-thirds (14/21) had dysphagia at onset and 33% had respiratory involvement. Thirteen had specific autoantibodies (58%), most frequently anti-Mi-2. The median number of flares during childhood was three (1-9). During childhood, 76% had calcinosis lesions. Clinical evolution seemed to be more aggressive for boys than girls (respectively 4.2 versus 2.2 flares (p = 0.04) and 50% vs 18% needing more than one background therapy, p = 0.03). CONCLUSION: This retrospective study is the largest cohort of pediatric patients of Afro-Caribbean and Black African descent treated for JDM in a high-income health system, and the first to describe the incidence and immunological profile in a population of African descent. They had higher rate of calcinosis and similar respiratory involvement. Overall outcomes during childhood were similar to North America and European countries.
Assuntos
Calcinose , Dermatomiosite , Masculino , Adulto , Feminino , Criança , Humanos , Pré-Escolar , Adolescente , Estudos de Coortes , Estudos Retrospectivos , Índias Ocidentais/epidemiologiaRESUMO
Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic variant is found in one of the following genes: C9ORF72, SOD1, TDP-43, FUS, and VCP. SOD1 is the 2nd most common gene involved in genetic forms of ALS. Genotype-phenotype relationships are occasionally established in genetic forms of ALS associated with SOD1 mutations pathogenic variants. The c.281G > T (p.[G93V]) variant in SOD1 is associated with a rarely described and unexplained anticipation phenomenon. We report a large family from Martinique in whom ALS is associated with a c.281G > T (p.[G93V]) pathogenic variant in SOD1 and a statistically suggested anticipation. A whole-exome study and detection of CNVs (CoDESeq) from 3 affected members of this family revealed the presence of variants of uncertain signification (VUS) in other ALS genes. VUS in DCTN1 and NEFH were present in patients of the 2nd generation, and CNVs involving UBQLN2 and C21orf2 were found in the youngest case of the family.
Assuntos
Esclerose Lateral Amiotrófica , Esclerose Lateral Amiotrófica/genética , Proteínas de Ligação a DNA/genética , Humanos , Martinica , Mutação/genética , Superóxido Dismutase-1/genéticaAssuntos
Distrofia Muscular de Duchenne/epidemiologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Comunicação Interdisciplinar , Masculino , Martinica/epidemiologia , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/terapia , Mutação , Estudos RetrospectivosAssuntos
Hospitais Especializados , Centros de Informação , Doenças Neuromusculares , Doenças Raras , Região do Caribe , Comportamento Cooperativo , Bases de Dados Factuais , Hospitais Especializados/organização & administração , Hospitais Universitários/organização & administração , Humanos , Centros de Informação/organização & administração , Comunicação Interdisciplinar , Cooperação Internacional , Laboratórios Hospitalares/organização & administração , Martinica , Medicina , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/epidemiologia , Doenças do Sistema Nervoso/genética , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/reabilitação , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/genética , Doenças Neuromusculares/patologia , Doenças Neuromusculares/reabilitação , PesquisaRESUMO
OBJECTIVES: Human T-cell lymphotropic virus type 1 (HTLV-1) infection leads to the risk of developing HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in less than 5% of cases. The mechanism of disease progression in HAM/TSP remains unknown. A significant role of certain human leukocyte antigen (HLA) genotypes in determining the risk of HAM/TSP has been reported in Japan, where the HLA-A*02 gene has been found to be associated with a lower HTLV-1 provirus load and with protection from HAM/TSP, whereas HLA-DRB1*0101 has been found to be associated with an increased susceptibility to HAM/TSP. The aim of the present case-control study was to investigate the HLA class I and class II allele distribution in HTLV-seropositive French Afro-Caribbean individuals, originating from the French West Indies. METHODS: Associations with HLA class I (A and B) and class II (DRB1 and DQB1) alleles were tested in 123 HAM/TSP patients and 85 asymptomatic HTLV-1 carriers. HLA typing was undertaken on genomic DNA extracted from peripheral blood leukocytes. RESULTS: In our cohort, no significant effect on either the risk of developing HAM/TSP or HTLV-1 provirus load was found for HLA class I or class II, including HLA-A*02 (p=0.43). CONCLUSIONS: Our findings are in contrast to those in the Japanese population, however the literature on HLA associations in HTLV-1 infections across different populations over the past decade have reported conflicting results and this suggests strong ethnic disparities.