RESUMEN
BACKGROUND: Sexual health access and care for women in the menopausal stages face significant barriers, presenting deficits in relation to diagnosis and treatment. Although epidemiological data indicate high prevalence of problems related to sexual health in this population, traditionally, the theme is not discussed in health care settings. This study aimed to analyze knowledge, practices and barriers to access sexual health of women in the menopausal stages in the context of women's health care in Brazil. METHODS: With a cross-sectional design, a questionnaire was distributed electronically, encompassing variables related to knowledge; practices; and barriers to access sexual health of women in the menopausal stages. The data obtained were subjected to analysis using both descriptive and inferential statistics. Specifically, we employed multivariate analysis, employing multiple linear regression models, to discern potential factors associated with outcomes concerning the level of knowledge and the frequency of addressing the topic in professional practice. RESULTS: The sample included 70 physicians with specialization in obstetrician/gynecologists who work in health care with women in the menopausal transition or postmenopausal women. A high level of self-reported knowledge about sexual health was identified. Regarding the practices, most of them reported directly proposing the subject and not using instruments. Although they reported frequently addressing the topic in general, topics related to vaginal lubrication, dyspareunia, and sexual dysfunction have been more present in the clinic compared to sexual orientation and women's relationship with themselves. The main barriers were time limitation and patient discomfort with the topic. The multivariate models indicated that female gynecologists and professionals with higher levels of knowledge on the subject had a higher frequency of addressing sexual health in clinical practice with women in menopausal stages. CONCLUSIONS: Sexual health access and care for brazilian women in the menopausal stages presents discrepancies in the frequency of approach between the various topics, in addition to the predictive character of technical knowledge in the practices of professionals. To ensure universal access to sexual health services for this population, an active approach through specific instruments is important, as well as the reinforcement of strategies to improve the level of knowledge of professionals.
Asunto(s)
Accesibilidad a los Servicios de Salud , Menopausia , Salud Sexual , Femenino , Humanos , Brasil , Estudios Transversales , Ginecólogos , Encuestas y Cuestionarios , Conocimientos, Actitudes y Práctica en SaludRESUMEN
Risk assessment deals with processes, accident-initiating events, barriers and risk ratings to unveil the fragility and weakness of some processes; within this study, specifically related to radiation therapy facilities. Barriers are technical or organizational safety measures put in place to avoid, prevent, detect, control, reduce or mitigate the consequences of an accident once an initiating event has occurred. In this work, radiological risk analysis was performed for a set of 20 Brazilian radiotherapy facilities making use of the freeware sevrra risk-management software. The objective of this study was to define parameters that could be useful in creating an overall risk profile. This profile would be helpful for establishing priorities for decision making and support a risk-informed regulatory process. The most relevant missing barriers in facilities were identified according to three parameters: the 'importance index', 'impacted facilities index' and the 'barrier-effectiveness index'. Barriers such as 'in vivo dosimetry in the first treatment session', 'weekly in vivo dosimetry to detect errors in the dose delivering process', 'annual external audit for the control of reference dose rate' and 'independent verification of calibration by various medical physicists with a different dosimetry equipment' were found to be the most effective in reducing the risk level of the facilities. The present investigation reinforces the need to strengthen the mechanisms that guarantee the effectiveness of such barriers in radiation therapy procedures.
Asunto(s)
Radioterapia/efectos adversos , Medición de Riesgo , Brasil , Exposición Profesional , Dosímetros de Radiación , Programas InformáticosRESUMEN
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is an inborn error of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its partial phenotypes, HPRT-related hyperuricemia with neurologic dysfunction (HRND) and hyperuricemia alone. We report here the recognition of six Argentine patients, two with LND and four with HRND. All patients presented elevated excretion of uric acid, hypoxanthine, and xanthine and decreased HPRT enzyme activities <1 nmol/h/mg Hb. The molecular analysis demonstrated in the two LND patients a novel inherited transition mutation, c.203T >C (L68P), in one subject and a germline transition mutation, c.209G >A (G70E), in the other. In the HRND patients a novel transversion mutation, c.584 A >C (Y195S), was found in three related patients and an inherited transition mutation, c.143G >A (R48H), in the fourth subject.
Asunto(s)
Mutación de Línea Germinal , Hiperuricemia/genética , Hipoxantina Fosforribosiltransferasa/deficiencia , Síndrome de Lesch-Nyhan/genética , Errores Innatos del Metabolismo/genética , Mutación , Enfermedades del Sistema Nervioso/genética , Argentina , Codón , Análisis Mutacional de ADN , Exones , Salud de la Familia , Humanos , FenotipoRESUMEN
The hypoxanthine-guanine phosphoribosyl-transferase (HPRT) deficiency is an inborn error of purine metabolism, responsible for classic Lesch-Nyhan disease and its neurological and hyperuricemic variants. We report a novel mutation in the HPRT gene, c.584A > C (Y195S), in two unrelated Argentine patients affected with the neurological variant with no HPRT activity in lysed erythrocytes. Using PCR plus DNA sequencing and/or restriction enzyme digestion we were able to confirm the diagnosis and identify new cases and potential carriers.
Asunto(s)
Hipoxantina Fosforribosiltransferasa/deficiencia , Errores Innatos del Metabolismo/genética , Mutación Missense , Adolescente , Argentina , Niño , Humanos , Hipoxantina Fosforribosiltransferasa/genética , MasculinoRESUMEN
OBJECTIVE: The objective was to evaluate the cognitive, behavioral, and neurodevelopmental function in patients with adenosine deaminase deficient severe combined immunodeficiency (ADA-SCID) and to compare the findings with those of a case control group of patients without ADA-SCID. STUDY DESIGN: Case-matched pairs of patients with ADA-SCID (n = 11) and patients without ADA-SCID who had undergone bone marrow transplantation were recruited. Subjects were assessed by age-appropriate standard tests of intelligence, behavior, and neurodevelopment. RESULTS: Cognitive ability was not significantly different between the 2 groups, but patients with ADA-SCID showed a significant inverse correlation between deoxyadenosinetrisphosphate levels at diagnosis and IQ (P =.048). Behavioral assessment showed that patients with ADA-SCID functioned in the pathologic range on all domains, whereas mean scores for the control group were within normal limits. Behavioral impairment in patients with ADA-SCID also showed a significant positive correlation with age (P =.026). CONCLUSIONS: Cognitive function in ADA deficiency is adversely affected by the severity of metabolic derangement at the time of diagnosis. In addition, patients with ADA-SCID have significant behavioral abnormalities after transplantation. These defects are not due to the transplant procedure but reflect the systemic nature of ADA deficiency. These findings have important implications for future medical and nonmedical management strategies.
Asunto(s)
Adenosina Desaminasa/deficiencia , Trasplante de Médula Ósea , Trastornos de la Conducta Infantil/diagnóstico , Trastornos del Conocimiento/diagnóstico , Inmunodeficiencia Combinada Grave/psicología , Inmunodeficiencia Combinada Grave/terapia , Adolescente , Estudios de Casos y Controles , Niño , Trastornos de la Conducta Infantil/psicología , Preescolar , Trastornos del Conocimiento/psicología , Femenino , Humanos , Pruebas de Inteligencia , Masculino , Examen NeurológicoRESUMEN
OBJECTIVE: This study determined the severity of posttraumatic stress and depressive reactions among Nicaraguan adolescents after Hurricane Mitch and the relationship of these reactions to objective and subjective features of hurricane exposure, death of a family member, forced relocation, and thoughts of revenge. METHOD: Six months after the hurricane, 158 adolescents from three differentially exposed cities were evaluated by using a hurricane exposure questionnaire, the Child Posttraumatic Stress Disorder Reaction Index, and the Depression Self-Rating SCALE: RESULTS: Severe levels of posttraumatic stress and depressive reactions were found among adolescents in the two most heavily affected cities. Severity of posttraumatic stress and depressive reactions and features of objective hurricane-related experiences followed a "dose-of-exposure" pattern that was congruent with the rates of death and destruction across cities. Level of impact (city), objective and subjective features, and thoughts of revenge accounted for 68% of the variance in severity of posttraumatic stress reaction. Severity of posttraumatic stress reaction, death of a family member, and sex accounted for 59% of the variance in severity of depression. CONCLUSIONS: After a category 5 hurricane, adolescents in heavily affected areas with extreme objective and subjective hurricane-related traumatic features of exposure experience severe and chronic posttraumatic stress and comorbid depressive reactions. The recovery of the severely affected Nicaraguan adolescents is vital to the social and economic recovery of a country ravaged by years of political violence and poverty. These findings strongly indicate the need to incorporate public mental health approaches, including systematic screening and trauma/grief-focused interventions, within a comprehensive disaster recovery program.