RESUMO
The aim of molecular genetic analysis in families with haemophilia is to identify the causative mutation in an affected male as this provides valuable information for the patient and his relatives. For the patient, mutation identification may highlight inhibitor development risk or discrepancy between different factor VIII assays. For female relatives, knowledge of the familial mutation can facilitate carrier status determination and prenatal diagnosis. Recent advances in understanding mutations responsible for haemophilia and methods for their detection are presented. For reporting of such mutations, participation in external quality assessment ensures that essential patient and mutation details are routinely included and that pertinent information is incorporated in the interpretation.
Assuntos
Transtornos da Coagulação Sanguínea/diagnóstico , Transtornos da Coagulação Sanguínea/genética , Testes Genéticos , Fator IX/genética , Fator VIII/genética , Testes Genéticos/métodos , Testes Genéticos/normas , Hemofilia A/diagnóstico , Hemofilia A/genética , Hemofilia B/diagnóstico , Hemofilia B/genética , Humanos , MutaçãoRESUMO
The objectives of this study were to determine the seroprevalence and risk factors for Human Immunodeficiency Virus (HIV) infection among the antenatal clinic population at the University Hospital of the West Indies (UHWI). Pregnant mothers (4186) attending antenatal clinic at the UHWI were screened for HIV infection between September, 1998, and October, 2000. Tests were performed with the use of Abbott enzyme immunoassay (EIA) kits for the detection of antibodies to HIV 1 and 2. Demographic characteristics and risk factor assessments were performed using a questionnaire for all positive cases and four randomly selected negative controls matched by age to each positive case. Twenty-one women were found to be HIV positive. Nineteen of these women were not previously aware that they were HIV-positive. The seroprevalence of HIV infection among antenatal mothers was 0.5%. The mean age of cases was 29.3 +/- 4.6 years. There was no significant difference between cases and controls with regards to parity, socio-economic status and educational achievement. Women residing in urban Kingston and St Andrew (Odds ratio (OR) 5, 95% confidence interval (CI) 1.4, 18), as well as those with a higher number of lifetime sexual partners (OR 1.42, 95% CI 1.13, 1.79) and those with previous sexually transmitted diseases (OR 3.4, 95% CI 1.1, 10.6) were at greater risk for HIV infection. In contrast, women who commenced coitus at a later age were at less risk of becoming infected (OR 0.79, 95% CI 0.6, 0.97). This study demonstrates a low seroprevalence of HIV in the UHWI antenatal population compared to the reported seroprevalence of 2%-8% in pregnant women in Latin America and the Caribbean. The results from this study emphasize the continuing need for voluntary HIV testing and HIV/AIDS educational campaign for this vulnerable group.
Assuntos
Infecções por HIV/epidemiologia , Complicações Infecciosas na Gravidez/epidemiologia , Adulto , Feminino , Humanos , Jamaica/epidemiologia , Gravidez , Fatores de Risco , Estudos Soroepidemiológicos , Fatores SocioeconômicosRESUMO
The objectives of this study were to determine the seroprevalence and risk factors for Human Immunodeficiency Virus (HIV) infection among the antenatal clinic population at the University Hospital of the West Indies (UHWI). Pregnant mothers (4186) attending antenatal clinic at the UHWI were screened for HIV infection between September, 1998, and October, 2000. Tests were performed with the use of Abbott enzyme immunoassay (EIA) kits for the detection of antibodies to HIV 1 and 2. Demographic characteristics and risk factor assessments were performed using a questionnaire for all positive cases and four randomly selected negative controls matched by age to each positive case. Twenty-one women were found to be HIV positive. Nineteen of these women were not previously aware that they were HIV-positive. The seroprevalence of HIV infection among antenatal mothers was 0.5. The mean age of cases was 29.3 +/- 4.6 years. There was no significant difference between cases and controls with regards to parity, socio-economic status and educational achievement. Women residing in urban Kingston and St Andrew (Odds ratio (OR) 5, 95 confidence interval (CI) 1.4, 18), as well as those with a higher number of lifetime sexual partners (OR 1.42, 95 CI 1.13, 1.79) and those with previous sexually transmitted diseases (OR 3.4, 95 CI 1.1, 10.6) were at greater risk for HIV infection. In contrast, women who commenced coitus at a later age were at less risk of becoming infected (OR 0.79, 95 CI 0.6, 0.97). This study demonstrates a low seroprevalence of HIV in the UHWI antenatal population compared to the reported seroprevalence of 2-8 in pregnant women in Latin America and the Caribbean. The results from this study emphasize the continuing need for voluntary HIV testing and HIV/AIDS educational campaign for this vulnerable group.
Assuntos
Humanos , Feminino , Gravidez , Adulto , Complicações Infecciosas na Gravidez/epidemiologia , Infecções por HIV/epidemiologia , Fatores de Risco , Jamaica , Estudos Soroepidemiológicos , Fatores SocioeconômicosRESUMO
The purpose of this study was to determine the effectiveness of an amino acid-based infant formula in infants with continued symptoms suggestive of formula protein intolerance while they were receiving casein hydrolysate formula (CHF). Twenty-eight infants, 22 to 173 days of age, were enrolled; each had received CHF for an average of 40 days (10 to 173 days) and continued to have bloody stools, vomiting, diarrhea, irritability, or failure to gain weight, or a combination of these symptoms. Sigmoidoscopy with rectal biopsy was performed in all infants. The infants then received an amino acid-based infant formula, Neocate, for 2 weeks. After 2 weeks of treatment, 25 of the infants demonstrated resolution of their symptoms and underwent challenge with CHF. Of the 25 who were challenged, eight tolerated the CHF and the remainder had recurrence of their symptoms. The histologic features in these infants varied from eosinophilic infiltration to normal. We conclude that not all infants with apparent formula protein-induced colitis respond to CHF and that these infants may have resolution of their symptoms when fed an amino acid-based infant formula.
Assuntos
Proteínas Alimentares/efeitos adversos , Alimentos Formulados , Proctocolite/induzido quimicamente , Hidrolisados de Proteína/efeitos adversos , Feminino , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Masculino , Proctocolite/diagnóstico , Proctocolite/terapia , Estudos Retrospectivos , SigmoidoscopiaRESUMO
The Welch Allyn AudioScope is a new screening instrument that allows both audiometric testing at 500, 1000, 2000, and 4000 Hz at 25 dB hearing level and otoscopic examination. Sixty-eight patients between 3 and 9 years of age with normal hearing or a variety of hearing losses comprised the study population. Immediately after receiving an audiologic evaluation the subjects were screened with a traditional screening audiometer and two examinations with the AudioScope, performed in a clinic examining room by pediatricians and nurse practitioners unaware of the children's hearing status. The AudioScope was as accurate as traditional hearing screening in identifying children with normal hearing and those with hearing loss. Log-linear modeling demonstrated that the results of AudioScope testing were similar to those of traditional hearing screening. However, the false positive rate was higher at 500 Hz for the first AudioScope examination, suggesting the need for two AudioScope tests. The AudioScope was quick and easy to use, nonthreatening to the subjects, less expensive than a pure-tone screening audiometer, and does not require a sound-treated room.