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1.
Clin Genet ; 84(1): 55-9, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23038988

RESUMO

Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific genotypes with adverse phenotypes of affected populations residing in the Western United States, a retrospective case series review was conducted of all MEFV gene mutation testing completed at UCLA Clinical Molecular Diagnostic Laboratory between February 2002 and February 2012, followed by clinical chart review of all subjects who either have a single or double mutation. All 12 common mutations in the MEFV gene were analyzed and the M694V variant was found to be associated with an adverse FMF clinical outcome in the Armenian-American population, manifested by earlier onset of disease, increased severity of disease, and renal amyloidosis.


Assuntos
Cromossomos Humanos Par 16 , Proteínas do Citoesqueleto/genética , Febre Familiar do Mediterrâneo/etnologia , Febre Familiar do Mediterrâneo/genética , Mutação , Adolescente , Idade de Início , California/epidemiologia , Etnicidade , Feminino , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Masculino , Pirina , Estudos Retrospectivos , Índice de Gravidade de Doença
2.
Public Health ; 115(4): 286-91, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11464302

RESUMO

Findings are presented for a cross-sectional study of serological markers of hepatitis B virus (HBV) infection in an underserved population-impoverished veterans of the US armed forces in a Veterans Administration (VA) residential program in the US. We examine the demographic, background, and risk factors associated with HBV infection in this high-risk population. This paper presents a secondary analysis of cross-sectional survey and clinical data for 370 male veterans who were residents of a domiciliary care program for homeless veterans in Los Angeles, using chi(2), Fisher's Exact, and logistic regression analysis. About one-third (30.8%) of the sample tested positive for current or past HBV infection (ie, seropositive for either the HBV core antibody or surface antigen). After multivariate analysis, rates of HBV were significantly higher among veterans who were older, non-white, or who had a history of regular heroin use (a proxy measure for injection drug use), drug overdose, or drug detoxification treatment. The rate of current or past HBV infection among veterans in this sample (30.8%) was high compared to an estimated 5% to 8% of the general US population. Also, 3% of the sample were currently infected with HBV. Strategies for intervention include broader screening, immunization, and treatment interventions with this high-risk group.


Assuntos
Hepatite B/epidemiologia , Pessoas Mal Alojadas/estatística & dados numéricos , Instituições Residenciais , Veteranos/estatística & dados numéricos , Adulto , Estudos Transversais , Humanos , Los Angeles/epidemiologia , Masculino , Pessoa de Meia-Idade
3.
Ann Emerg Med ; 15(10): 1229-31, 1986 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-3752658

RESUMO

Clonidine is a centrally acting antihypertensive agent used in the management of essential hypertension. Oral clonidine loading is now used frequently in the management of hypertensive urgencies (ie, increases in arterial pressure not associated with acute, life-threatening end-organ injury). We report the case of a patient with an acute inferior myocardial infarction associated with blunt chest trauma who developed an abrupt and unexplained increase in arterial pressure 24 hours after admission and who was treated with oral clonidine (0.5 mg in divided doses over two hours). Drug therapy was followed by prolonged (four hours) systemic arterial hypotension (mean arterial pressure less than 70 mm Hg). Four milligrams of naloxone in two divided doses was given. Each naloxone bolus was followed by a 15-mm-Hg increase in mean arterial pressure and a return to values that were normal for this patient. Naloxone may be of value in reversing clonidine toxicity when clonidine is given to treat an acute rise in arterial pressure.


Assuntos
Clonidina/antagonistas & inibidores , Hipertensão/tratamento farmacológico , Hipotensão/tratamento farmacológico , Naloxona/farmacologia , Acidentes de Trânsito , Idoso , Clonidina/efeitos adversos , Feminino , Humanos , Hipotensão/induzido quimicamente , Infarto do Miocárdio/etiologia , Ferimentos não Penetrantes/complicações
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