RESUMO
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals.
Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Espectro Autista/genética , Variações do Número de Cópias de DNA/genética , Deficiências do Desenvolvimento/genética , Fenótipo , Receptor Nicotínico de Acetilcolina alfa7/genética , Criança , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Análise em Microsséries , LinhagemAssuntos
Edema Encefálico/diagnóstico , Encéfalo/diagnóstico por imagem , Neoplasias Neuroepiteliomatosas/diagnóstico , Encéfalo/patologia , Edema Encefálico/diagnóstico por imagem , Edema Encefálico/patologia , Criança , Feminino , Humanos , Neoplasias Neuroepiteliomatosas/diagnóstico por imagem , Neoplasias Neuroepiteliomatosas/patologia , RadiografiaRESUMO
Group A streptococci (GAS) are usually the predominant species in cases of bacteraemia caused by ß haemolytic streptococci (BHS). An increasing worldwide incidence of invasive disease from non-group A BHS has been reported. Little is known about the changing trends in invasive disease caused by BHS in Australia. North Queensland has a relatively large indigenous population, who experience significantly higher rates of group A-related disease than the non-indigenous population. This prospective study examined changing trends of disease from large colony BHS that group with A, B, C and G antisera over a 14-year period at the single large tertiary referral hospital in the area. We identified 392 bacteraemic episodes caused by BHS. GAS were most commonly isolated (49%), with adjusted rates remaining stable over the period. There was a significant increase in the incidence of non-neonatal bacteraemia caused by group B streptococci (GBS) over the study period (r = 0.58; p 0.030), largely driven by infection in older, non-indigenous women. Rates of bacteraemia caused by group C streptococci also experienced a modest, but significant, increase over time (r = 0.67; p 0.009). GAS, which had no predominant emm type, were seen most commonly in indigenous subjects (52%). Mortality rates ranged from 3.2% (group G) to 10.3% (group C), with a rate of 7.9% associated with group A disease. The marked rise in GBS disease has been noted worldwide, but the relatively low incidence in indigenous Australian patients has not been described before, despite the burden of well-recognized risk factors for GBS disease within this group.