RESUMO
We investigated systolic dysfunction by the use of biochemical laboratory tests and perfusion single-photon emission computed tomography imaging in 32 Pakistani subjects exhibiting symptoms of this disorder. To investigate underlying genetic causes, such as familial hypercholesterolemia, DNA samples from these subjects were screened by PCR-SSCP and DNA sequencing to detect changes in the low density lipoprotein receptor gene (LDLR). A novel mutation (1171G>A) in exon 8 and two polymorphisms (1167G>A and 1413 A>G) in exons 8 and 10 of the LDLR gene were found. In silico tools such as SIFT, PolyPhen-2, KD4v, and Project HOPE were used to predict the effect of this mutation on protein structure and function.
Assuntos
Mutação de Sentido Incorreto , Receptores de LDL/genética , Disfunção Ventricular Esquerda/genética , Adolescente , Adulto , Estudos de Casos e Controles , Análise Mutacional de DNA , Éxons , Feminino , Estudos de Associação Genética , Humanos , Masculino , Modelos Moleculares , Polimorfismo de Nucleotídeo Único , Polimorfismo Conformacional de Fita Simples , Estrutura Terciária de Proteína , Receptores de LDL/química , Volume Sistólico , Sístole , Tomografia Computadorizada de Emissão de Fóton Único , Disfunção Ventricular Esquerda/diagnóstico por imagem , Adulto JovemRESUMO
OBJECTIVES: To examine the epidemiology of HIV among black and minority ethnic (BME) men who have sex with men (MSM) in England and Wales (E&W). METHODS: Ethnicity data from two national HIV/AIDS surveillance systems were reviewed (1997-2002 inclusive), providing information on new HIV diagnoses and those accessing NHS HIV treatment and care services. In addition, undiagnosed HIV prevalence among MSM attending 14 genitourinary medicine (GUM) clinics participating in the Unlinked Anonymous Prevalence Monitoring Programme and having routine syphilis serology was examined by world region of birth. RESULTS: Between 1997 and 2002, 1040 BME MSM were newly diagnosed with HIV in E&W, representing 12% of all new diagnoses reported among MSM. Of the 1040 BME MSM, 27% were black Caribbean, 12% black African, 10% black other, 8% Indian/Pakistani/Bangladeshi, and 44% other/mixed. Where reported (n = 395), 58% of BME MSM were probably infected in the United Kingdom. An estimated 7.4% (approximate 95% CI: 4.4% to 12.5%) of BME MSM aged 16-44 in E&W were living with diagnosed HIV in 2002 compared with 3.2% (approximate 95% CI: 2.6% to 3.9%) of white MSM (p<0.001). Of Caribbean born MSM attending GUM clinics between 1997 and 2002, the proportion with undiagnosed HIV infection was 15.8% (95% CI: 11.7% to 20.8%), while among MSM born in other regions it remained below 6.0%. CONCLUSIONS: Between 1997-2002, BME MSM accounted for just over one in 10 new HIV diagnoses among MSM in E & W; more than half probably acquired their infection in the United Kingdom. In 2002, the proportion of BME MSM living with diagnosed HIV in E&W was significantly higher than white MSM. Undiagnosed HIV prevalence in Caribbean born MSM was high. These data confirm the need to remain alert to the sexual health needs and evolving epidemiology of HIV among BME MSM in E&W.
Assuntos
População Negra/etnologia , Infecções por HIV/etnologia , Homossexualidade/estatística & dados numéricos , Adolescente , Adulto , África/etnologia , Ásia/etnologia , Inglaterra/epidemiologia , Homossexualidade/etnologia , Humanos , Masculino , Prevalência , Fatores de Risco , País de Gales/epidemiologia , Índias Ocidentais/etnologiaRESUMO
BACKGROUND: HIV is now well established in the Caribbean, with prevalence in several countries being surpassed only by those of sub-Saharan Africa. Continuing inward migration from the Caribbean and a high incidence of some bacterial STIs among Britain's black Caribbean communities, suggests a considerable potential for HIV spread. METHODS: Data from three national HIV/AIDS surveillance systems were reviewed, providing information on new HIV diagnoses, numbers accessing treatment and care services, and HIV prevalence. RESULTS: Between 1997 and 2001, 528 black Caribbean adults were newly diagnosed with HIV; 62 new diagnoses in 1997, rising to 176 in 2001. Probable heterosexual acquisition accounted for 335 (63%) infections (161 (48%) males, 174 females), and sex between men 171 (32%). Infection was acquired both in the Caribbean and in the United Kingdom. Numbers of black Caribbeans accessing treatment and care services more than doubled between 1997 (294) and 2001 (691). In 2001, 528 (76%) black Caribbeans accessing services were London residents. Among the Caribbean born previously undiagnosed heterosexuals, HIV prevalence was 0.7%; among men who have sex with men (MSM) it was 10.4%. Of those born in the Caribbean, 73% of male heterosexuals, 50% of female heterosexuals, and 65% of MSM who were previously undiagnosed left the clinic unaware of their HIV infection. CONCLUSIONS: Numbers of black Caribbean adults newly diagnosed and accessing treatment and care services in England, Wales, and Northern Ireland increased between 1997 and 2001. Despite a high prevalence of diagnosed bacterial STIs, prevalence among Caribbean born heterosexuals remains low, but it is high among MSM. Surveillance data highlight the need for targeted HIV prevention among black Caribbeans.