Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.

Population-based testing for BRCA1/2 mutations detects a high proportion of carriers not identified by cancer family history-based testing. We sought to determine whether population-based testing is an effective approach to genetic testing in the Bahamas, where 23% of women with breast cancer carry one of seven founder mutations in the BRCA1 or BRCA2 gene. We determined the prevalence of founder BRCA mutations in 1847 Bahamian women without a personal history of breast or ovarian cancer, unselected for age or family history. We found that 2.8% (20/705) of unaffected women with a family history of breast/ovarian cancer and 0.09% (1/1089) of unaffected women without a family history carry a BRCA mutation. A total of 38% of unaffected women with a known mutation in the family were found to carry the familial mutation. We previously suggested that all Bahamian women with breast or ovarian cancer be offered genetic testing. These current data suggest that additionally all unaffected Bahamian women with a family history of breast/ovarian cancer should be offered genetic testing for the founder BRCA mutations.

Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas.

The prevalence of BRCA1 and BRCA2 mutations among unselected breast cancer patients in the Bahamas is 23%. It is beneficial to advise relatives of mutation carriers that they are candidates for genetic testing. Women who test positive are then eligible for preventive interventions, such as oophorectomy. It is not clear how often relatives of women with a mutation in the Bahamas wish to undergo genetic testing for the family mutation. Furthermore, it is not clear how best to communicate this sensitive information to relatives in order to maximize patient compliance. We offered genetic testing to 202 first-degree relatives of 58 mutation carriers. Of 159 women who were contacted by the proband or other family member, only 14 made an appointment for genetic testing (9%). In contrast, among 32 relatives who were contacted directly by the genetic counselor, 27 came for an appointment (84%). This study suggests that for recruitment of relatives in the Bahamas, direct contact by counselor is preferable to using the proband as an intermediary.

Knowledge and attitudes toward HPV and the HPV vaccines in the Bahamas / Conocimientos y actitudes hacia el VPH y las vacunas contra VPH en las Bahamas

OBJECTIVE: High-risk types of human papillomavirus (HPV) are a necessary, albeit not sufficient, cause for cervical cancer development. In The Bahamas, cervical cancer is one of the leading causes of cancer despite screening and educational efforts. As a vaccine programme is being considered, awareness of HPV-related conditions and its vaccine need to be measured. METHODS: This study design was cross-sectional and carried out at three clinical sites and one community in Nassau, Bahamas. All participants were over the age of 18 years and were invited to answer a (self-administered) questionnaire regarding knowledge and attitudes toward HPV and its vaccines. RESULTS: Of399 participants, 75% were female and 23% male. About 41% had a high school education and 55.4% had some tertiary college education. Forty-six per cent had heard of HPV and 35% heard of the vaccine. The mean number of correct answers about HPV was 2.93 ± 3.17 of 10 questions, while for the vaccine, it was 1.37 ± 1.58 of five questions. Multivariable logistic regression indicated that some college education was associated with more HPV and HPV vaccine knowledge. Seventy-three per cent needed reassurance of the vaccine's safety and efficacy. Sixty-five per cent would vaccinate their daughters and 68% would vaccinate their sons if the vaccine was safe and effective. CONCLUSION: More public education is needed to increase awareness of cervical cancer and HPV-related diseases. Reassurance with respect to vaccine safety and efficacy also needs to be addressed. Since the majority would vaccinate their children, there is the potential for a national vaccination programme to succeed.

OBJETIVO: Los tipos de alto riesgo del virus del papiloma humano (VPH) son una medida necesaria, aunque no constituyen causa suficiente para el desarrollo de cáncer cervical. En las Bahamas, el cáncer de cuello uterino es una de las principales causas de cáncer a pesar de los esfuerzos realizados en términos de pesquizaje y educación. En un momento en que se está considerando la posibilidad de un programa de vacunación, es necesario evaluar el nivel de conciencia con respecto a las condiciones relacionadas con el VPH y su vacuna. MÉTODOS: Se trata de un estudio con un diseño transversal, llevado a cabo en tres clínicas y en una comunidad, en Nassau, Bahamas. Todos los participantes eran mayores de 18 años y fueron invitados a responder un cuestionario autoadministrado sobre conocimientos y actitudes hacia el VPH y sus vacunas. RESULTADOS: De 399 participantes, el 75% eran hembras y el 23% eran varones. Aproximadamente el 41% tenía educación secundaria y el 55,4% tenía algún nivel de educación terciaria. El cuarenta y seis por ciento había oído del VPH, y el 35% había oído hablar de la vacuna. El número promedio de respuestas correctas sobre el VPH fue 2.93 ± 3.17 de 10 preguntas, mientras que para la vacuna, fue 1.37 ± 1.58 de cinco preguntas. La regresión logística multivariable indicó cierta asociación de la educación universitaria con más conocimientos sobre el VPHy la vacuna del VPH. Setenta y tres por ciento necesitaban garantías de seguridad y eficacia en relación con la vacuna. El sesenta y cinco por ciento vacunaría a sus hijas, y el 68% vacunaría a sus hijos varones, si la vacuna fuese segura y efectiva. CONCLUSIÓN: Se requiere más educación pública para aumentar la conciencia sobre el cáncer de cuello uterino y las enfermedades relacionadas con el VPH. Asimismo hay que abordar el problema de las garantías respecto a la eficacia y seguridad de la vacuna. Puesto que la mayoría vacunaría a sus hijos e hijas, existe la posibilidad de que un programa nacional de vacunación tenga éxito.

Knowledge and Attitudes toward HPV and the HPV Vaccines in The Bahamas.

OBJECTIVE: High-risk types of human papillomavirus (HPV) are a necessary, albeit not sufficient, cause for cervical cancer development. In The Bahamas, cervical cancer is one of the leading causes of cancer despite screening and educational efforts. As a vaccine programme is being considered, awareness of HPV-related conditions and its vaccine needs to be measured. METHODS: This study design was cross-sectional and carried out at three clinical sites and one community in Nassau, Bahamas. All participants were over the age of 18 years and were invited to answer a (self-administered) questionnaire regarding knowledge and attitudes toward HPV and its vaccines. RESULTS: Of 399 participants, 75% were female and 23% male. About 41% had a high school education and 55.4% had some tertiary college education. Forty-six per cent had heard of HPV and 35% heard of the vaccine. The mean number of correct answers about HPV was 2.93 ± 3.17 of 10 questions, while for the vaccine, it was 1.37 ± 1.58 of five questions. Multivariable logistic regression indicated that some college education was associated with more HPV and HPV vaccine knowledge. Seventy-three per cent needed reassurance of the vaccine's safety and efficacy. Sixty-five per cent would vaccinate their daughters and 68% would vaccinate their sons if the vaccine was safe and effective. CONCLUSION: More public education is needed to increase awareness of cervical cancer and HPV-related diseases. Reassurance with respect to vaccine safety and efficacy also needs to be addressed. Since the majority would vaccinate their children, there is the potential for a national vaccination programme to succeed.

The sugar permeability test reflects disease activity in children and adolescents with inflammatory bowel disease.

OBJECTIVES: To investigate the relationship of intestinal permeability in children and adolescents with inflammatory bowel disease (IBD) to disease activity, disease extent, and response to therapy. STUDY DESIGN: Patients with new and established diagnoses of IBD (12 Crohn's disease [CD] and 18 ulcerative colitis [UC]) were studied. Intestinal permeability was evaluated by measuring with high-performance liquid chromatography 5-hour urinary excretion ratio of lactulose/L-rhamnose (L/Rh). RESULTS: In 8 of 9 patients with active CD, the L/Rh ratio was higher than the reference range (0.006 to 0.074, n = 36). In inactive CD (n = 3) the L/Rh ratio was within the reference range. In 6 of 7 patients with active extensive UC, the L/Rh ratio was elevated. In inactive extensive UC (n = 6) the normal permeability ratio was shown. In both active CD and active extensive UC, the frequency of elevated intestinal permeability was significantly greater than values in both inactive forms. The permeability ratio was normal in 4 of 5 patients with active left-sided colitis. In 5 of 7 patients (3 CD, 4 UC), repeat permeability values entered the reference range after acute phase therapy. Two patients with persistently elevated intestinal permeability (1 CD, 1 UC) had a disease flare-up within 6 months. CONCLUSIONS: Intestinal permeability is a marker of disease activity in CD and extensive UC. Serial permeability test may be useful in monitoring disease activity.

Superior in vivo response of recombinant factor VIII concentrate in children with hemophilia A.

OBJECTIVE: Our previous experience with highly purified plasma-derived factor VIII (pdFVIII) concentrates showed that adult dosage recommendations were not applicable to children. In this study, we compared the in vivo response and recovery of recombinant factor VIII (rFVIII) with those of highly purified pdFVIII concentrate in children with hemophilia A. STUDY DESIGN: Ten boys with severe factor VIII deficiency and no concurrent bleeding episodes participated in a masked, prospective, crossover study comparing factor VIII coagulant activity after infusion of 50 units of pdFVIII and rFVIII products per kilogram of body weight. RESULTS: Mean peak factor VIII response with rFVIII was 1.91% +/- 0.14%, significantly better than the response observed with highly purified pdFVIII of 1.5% +/- 0.15% (p = 0.007). Mean peak factor VIII recovery was 100.5% with rFVIII versus 78.7% with pdFVIII (p = 0.007). Positive correlations between response to rFVIII and body surface area (r = 0.734, p = 0.015), body weight (r = 0.762, p = 0.01), and plasma volume (r = 0.659, p = 0.03) were observed. CONCLUSIONS: Infusion of rFVIII produced a significantly better response and recovery in vivo than infusion of highly purified pdFVIII in children. The response in children after infusion of rFVIII was similar to the response previously observed in adults.

Loss of detectable antibody to hepatitis B surface antigen in immunized patients with hemophilia but without human immunodeficiency virus infection.

We investigated the loss of detectable antibody directed against the hepatitis B surface antigen after immunization with hepatitis B vaccine in 55 patients who were seronegative for the human immunodeficiency virus and had hemophilia. Twenty percent of patients lost detectable antibody at a mean of 4.6 years after completion of immunization. Monitoring of hepatitis B serostatus or routine revaccination may be necessary.

Low recovery in vivo of highly purified factor VIII in patients with hemophilia.

To assess whether the response and recovery of highly purified factor VIII products approach the levels predicted by use of manufacturers' suggestions, we studied response in vivo and percentage of recovery in boys and men with hemophilia after infusion of 50 IU of an immunoaffinity-purified factor VIII preparation (Hemofil M) per kilogram of body weight. We also studied dose response and percentage of recovery in the same boys after infusion of a factor VII concentrate prepared by solvent detergent treatment and gel filtration (Koate-HP). For boys the difference between mean peak factor VIII response with Hemofil M (1.02% +/- 0.07%) and the response with Koate-HP (1.21% +/- 0.10%) was not significant (p = 0.10), but the response of both products was considerably less than the predicted response of 2.0%. The response to Hemofil M in men (1.38% +/- 0.12%) was significantly better than the response in boys (p = 0.004) but, again, fell short of the anticipated response of 2.0%. In boys the percentage of recovery of Hemofil M was 38.4% +/- 2.1%, compared with Koate-HP recovery, which was 47.0% +/- 3.6% (p = 0.034). The percentage of recovery in men was 47.5% +/- 2.8%. The better response observed in men appears to be, in part, a function of larger body size. We conclude that peak factor VIII response and recovery in boys and men who receive highly purified factor VIII concentrates are lower than those predicted by use of current prescribing recommendations.

Geochronology of type uquian (late cenozoic) land mammal age, Argentina.

Mammal faunas collected from the Uquía Formation at Chucalezna and Esquina Blanca in Jujuy Province, northwest Argentina, are calibrated by potassium-argon age determinations and paleomagnetic polarity data. The sediments range in age from 2.5 million years old to perhaps as young as 1.5 million years, from late Pliocene through early Pleistocene, and correspond in time to late Blancan and early Irvingtonian land mammal age faunas in North America.

Computerized tomography in the management of intracranial bleeding in hemophilia.

Computerized tomography was used to evaluate the severity of six episodes of suspected intracranial bleeding in four patients with hemophilia. In all instances the CT scan rapidly provided information on the extent and location of the intracranial hemorrhage. Results of the initial scan provided a rational basis for therapy, and subsequent scans were a noninvasive means of evaluating the effects of treatment. If available, computerized tomography is a valuable aid in the management of the hemophiliac patient with intracranial bleeding.