Genetic Analysis of PARK2 and PINK1 Genes in Brazilian Patients with Early-Onset Parkinson's Disease

Parkinson''s disease is the second most frequent neurodegenerative disorder in the world, affecting 1-2% of individuals over the age of 65. The etiology of Parkinson''s disease is complex, with the involvement of gene-environment interactions. Although it is considered a disease of late manifestation, early-onset forms of parkinsonism contribute to 5–10% of all cases. In the present study, we screened mutations in coding regions of PARK2 and PINK1 genes in 136 unrelated Brazilian patients with early-onset Parkinson''s disease through automatic sequencing. We identified six missense variants in PARK2 gene: one known pathogenic mutation, two variants of uncertain role, and three nonpathogenic changes. No pathogenic mutation was identified in PINK1 gene, only benign polymorphisms. All putative pathogenic variants found in this study were in heterozygous state. Our data show that PARK2 point mutations are more common in Brazilian early-onset Parkinson''s disease patients (2.9%) than PINK1 missense variants (0%), corroborating other studies worldwide.     

Assessing cochlear evoked potentials after electrocautery-induced trauma to the utricle

Utriculostomy is a new surgical alternative for Ménière's disease. The basis of this procedure is that the outcome of an electrocautery-induced utricular trauma does not affect cochlear function. However, a demonstration of the hypothesis that this approach to the utricle would preserve hearing is still pending.ObjectiveTo determine whether any changes would occur in the electrical potentials evoked in the cochlea and auditory nerve before, during, and 1 month after a surgical procedure in the utricule in an animal model.Materials and MethodsAn experimental study. Eight sheep underwent electrocautery-induced utricular trauma, and their cochlear function was assessed by electrocochleography – recording of electrical evoked potentials, in the preoperative, immediate postoperative and medium-term postoperative periods. The results were analyzed statistically.ResultsThere were no statistically significant variations in amplitude (p = 0.099) and latency (p = 0.591) before and 1 month after the surgical procedure. There was a statistically significant change in the summation of the potential/action potential area ratio (p = 0.0122), a calculated loss of 11.8 dB.ConclusionThe intervention performed in this study enabled us to conclude that, taking into account the impaired electrophysiological responses observed during and 1 month after the surgical procedure, hearing was preserved in the operated sheep.     

Impact of Antiretroviral Therapy on Health-Related Quality of Life among South African Women in the CAPRISA 002 Acute Infection Study

Concerns are often raised regarding potentially adverse effects of antiretroviral therapy (ART) on health-related quality of life (HRQoL), but there is limited longitudinal data to prove this. Building on our prior investigation, we examined the impact of ART on HRQoL among HIV-infected South African women with extensive follow-up in the CAPRISA 002 Acute Infection Cohort Study. Overall HRQoL and five sub-domains [physical well-being (PWB), emotional well-being (EWB), functional and global well-being (FGWB), social well-being (SWB) and cognitive functioning (CF)] were assessed using the Functional Assessment of HIV Infection (FAHI) instrument. Our analyses comparing FAHI scores between pre-ART (established infection) and ART phases using paired Wilcoxon signed-rank tests and adjusted mixed-effects regression models revealed improvements on ART in overall HRQoL, and in PWB, EWB, and SWB, but not in FGWB and CF. No long-term adverse impact of ART on HRQoL was detected, providing additional non-biomedical support to early treatment strategies.     

Missed opportunities: emergency contraception utilisation by young south African women

Although contraceptives, including emergency contraceptives, are widely available free at public health facilities in South Africa, rates of teenage and unintended pregnancy are high. This paper analyses awareness and utilisation of emergency contraception amongst 193 young women (aged 15-24 years) attending public sector health facilities. Structured interviews were held at 17 and 14 primary health clinics in an urban and a rural area respectively. Respondents were asked about their knowledge of contraceptive methods and use, and specifically about emergency contraceptive utilisation. More sexually active young urban women (76%) were currently using a method of contraception, compared to the young rural women (53%). Only 17% had ever heard of emergency contraception, although significantly more in the urban area (p = 0.005) had heard of it. Only one woman from each site had ever used emergency contraception, although 39% had had unprotected intercourse in the previous year when they did not wish to conceive. Young South African women should be the focus of interventions aimed at improving awareness of the availability of emergency contraception and knowledge about its correct utilisation.     

Where is the condom? Contraceptive practice in a rural district of South Africa

Interviews were conducted with 848 African women aged 15-49 years in a rural area of South Africa to determine the extent to which condoms are used, reasons for contraceptive method choice and unmet contraceptive need. Injectable contraceptives were being used by 22.1% of respondents, who considered them to be convenient, safe, effective, and/or a method that could be used secretly. The decision to use this method was often made on the recommendation of a health worker. Eleven women said they were using the male condom, seven of whom were using it because it provides protection against pregnancy and sexually transmitted infections. Many (70.3%) women were not using any form of contraception. Counselling about contraceptive options should take into account the need for dual protection, and strategies for increasing condom use should be promoted.     

Counting the costs: Comparing depot medroxyprogesterone acetate and norethisterone oenanthate utilisation patterns in South Africa

Background

In South Africa, where health care resources are limited, it is important to ensure that drugs provision and use is rational. The Essential Drug List includes depot medroxyprogesterone acetate (DMPA) and norethisterone oenanthate (NET-EN) as injectable progestagen-only contraceptives (IPCs), and both products are extensively used.

Objectives and Methods

Utilisation patterns of the injectable contraceptive products DMPA and NET-EN are compared in the context of current knowledge of the safety and efficacy of these agents. Utilisation patterns were analysed by means of a Pareto (ABC) analysis of IPCs issued from 4 South African provincial pharmaceutical depots over 3 financial years. A case study from rural KwaZulu-Natal, South Africa, is used to examine utilisation patterns and self-reported side effects experienced by 187 women using IPCs.

Results

IPCs accounted for a substantial share of total state expenditure on drugs. While more DMPA than NET-EN was issued, NET-EN distribution from 2 depots increased over the 3-year period. Since DMPA was cheaper, if all NET-EN clients in the 1999/2000 financial year (annualised) had used DMPA, the 4 depots could have saved 4.95 million South African Rands on product acquisition costs alone. The KZN case study showed slightly more NET-EN (54%) than DMPA (46%) use; no significant differences in self-reported side effects; and that younger women were more likely to use NET-EN than DMPA (p = 0.0001).

Conclusions

Providing IPCs on the basis of age is not appropriate or cost effective. Rational use of these products should include consideration of the cost of prescribing one over another.     

Who infects whom? HIV-1 concordance and discordance among migrant and non-migrant couples in South Africa

OBJECTIVES: To measure HIV-1 discordance among migrant and non-migrant men and their rural partners, and to estimate the relative risk of infection from inside versus outside primary relationships. DESIGN: A cross-sectional behavioural and HIV-1 seroprevalence survey among 168 couples in which the male partner either a migrant, or not. METHODS: A detailed questionnaire was administered and blood was collected for laboratory analysis. A mathematical model was developed to estimate the relative risk of infection from inside versus from outside regular relationships. RESULTS: A total of 70% (117 of 168) of couples were negatively concordant for HIV, 9% (16 of 168) were positively concordant and 21% (35 of 168) were discordant. Migrant couples were more likely than non-migrant couples to have one or both partners infected [35 versus 19%; P = 0.026; odds ratio (OR) = 2.28] and to be HIV-1 discordant (27 versus 15%; P = 0.066; OR = 2.06). In 71.4% of discordant couples, the male was the infected partner; this did not differ by migration status. In the mathematical model, migrant men were 26 times more likely to be infected from outside their regular relationships than from inside [relative risk (RR) = 26.3; P = 0.000]; non-migrant men were 10 times more likely to be infected from outside their regular relationships than inside (RR = 10.5; P = 0.00003). CONCLUSIONS: Migration continues to play an important role in the spread of HIV-1 in South Africa. The direction of spread of the epidemic is not only from returning migrant men to their rural partners, but also from women to their migrant partners. Prevention efforts will need to target both migrant men and women who remain at home.     

Epidemiology of health and vulnerability among children orphaned and made vulnerable by HIV/AIDS in sub-Saharan Africa

The HIV/AIDS epidemic in sub-Saharan Africa has already orphaned a generation of children, and it is projected that by 2010, 18 million African children under the age of 18 are likely to be orphans from this single cause (UNICEF, 2005, The state of the Worlds Children: Childhood under threat. New York: UNICEF). Results from a Kellogg funded OVC project (Skinner et al., 2004, Definition of orphaned and vulnerable children. Cape Town: HSRC) supported the construct that the loss of either or both parents would indicate a situation of likely vulnerability of children. A key problem in the literature on the impact of orphanhood on the well-being of children, families and communities, is that the focus of assertions and predictions is often on the negative impact on 'AIDS orphans', or households. There are hardly any studies that compare the experiences of orphans with non-orphans. This paper thus attempts to fill that gap. It uses epidemiological data to explore the epidemiology of health and vulnerability of children within the context of AIDS in sub-Saharan Africa. Because of data limitations, only the following aspects are examined: (i) orphan status; (ii) household structure (in particular, grandparent headedness and female-headedness); (iii) illness of parents; (iv) poverty; and (v) access to services, especially schooling, health, social services. While recognizing the limitations of the analysis, data presented in this paper indicates that orphans in sub-Saharan Africa are more vulnerable than non-orphans. The authors conclude with some suggestions for policy makers and programme implementers, highlighting the importance of focusing on interventions that will have maximum impact on the health and well-being of children.