The HIV prevalence among pregnant women in the Amsterdam region (1988–1991)

The objective of the study was to monitor the HIV prevalence in the years 1988–1991 among pregnant women in the Amsterdam region, visitors to an abortion clinic and 3 outpatient infertility clinics. All women attending these clinics were asked to participate in the study on a voluntary basis and were tested with informed consent. The women were questioned about risk-bearing behaviour of themselves and their sexual partner(s). In the period 1988–1991, of the 23,827 eligible pregnant women, 22,165 women participated (93.0%). Twenty-seven women were found to be positive for HIV antibodies (0.12%, 95% CI: 0.08%–0.17%), of whom twenty belonged to a known HIV risk group or had a partner who belonged to one of these groups and 7 women had no known HIV risk. Seventeen of the 27 women had a foreign nationality. The annual HIV prevalence among pregnant women was: 1988: 0.28%; 1989: 0.10%; 1990: 0.10%; 1991: 0.11%. In the years 1990 and 1991, of the 1,128 eligible women visiting the abortion clinic 953 (84.5%) were tested. Eleven women were HIV-seropositive (1.15%, 95% CI: 0.6%–2.0%), of whom 9 were from an AIDS endemic region, 1 woman had a partner from this region and 1 woman had no known HIV risk. Four African women had HIV-2 antibodies. At the 3 outpatient infertility clinics 1 woman was found to be HIV-positive (0.13%; 95% CI: 0.02–0.9). She had no other risk than a partner from an AIDS endemic area. In the Amsterdam region there was a steady and low HIV prevalence (0.1%) among pregnant women through the years 1988–1991. The prevalence in the abortion clinic was ten times higher. The program was able to detect possible high risk groups within the population. Migration and travelling can play an important role in the spread of HIV in the general heterosexual population.     

Moment-to-moment dynamics of ADHD behaviour in South African children

Background  

The behaviour of children with Attention-Deficit/Hyperactivity Disorder is characterized by low predictability of responding. Low behavioural predictability is one way of operationalizing intra-individual ADHD-related variability. ADHD-related variability may be caused by inefficient behavioural selection mechanisms linked to reinforcement and extinction, as suggested by the recently published dynamic developmental theory (DDT) of ADHD. DDT argues that ADHD is a basic neurobehavioural disorder, caused by dysfunctioning dopamine systems. For establishing ADHD as a neurobehavioural disorder, findings from studies conducted in Western countries should be replicated in other cultural populations. The present study replicated the study conducted in Norway, with children from the Limpopo province in the Republic of South Africa.     

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Human Molecular Genetics     

Good end-of-life care according to patients and their GPs

BACKGROUND: Most patients prefer to die at home, where a GP provides end-of-life care. A few previous studies have been directed at the GPs' values on good end-of-life care, yet no study combined values of patients and their own GP. AIM: To explore the aspects valued by both patients and GPs in end-of-life care at home, and to reflect upon the results in the context of future developments in primary care. DESIGN OF STUDY: Interviews with patients and their own GP. SETTING: Primary care in the Netherlands. METHOD: Qualitative, semi-structured interviews with 20 GPs and 30 of their patients with a life expectancy of less than 6 months, and cancer, heart failure or chronic obstructive pulmonary disease as underlying disease. RESULTS: Patients and GPs had comparable perceptions of good end-of-life care. Patients and GPs identified four core items that they valued in end-of-life care: availability of the GP for home visits and after office-hours, medical competence and cooperation with other professionals, attention and continuity of care. CONCLUSIONS: Future developments in the organisation of primary care such as the restriction of time for home visits, more part-time jobs and GP cooperatives responsible for care after office hours, may threaten valued aspects in end-of-life care.     

Confidentiality and serious harm in genetics - preserving the confidentiality of one patient and preventing harm to relatives

Genetics can pose special challenges to the principle of confidentiality within the health professional-patient relationship, since genetic information is by its nature both individual and familial. Most professional guidelines allow confidentiality to be broken in rare circumstances, where it will prevent a 'serious', 'imminent' and 'likely' harm. We argue that the types of harms that may result from genetic medicine are particularly diverse. Using clinical examples, we explore ethical issues that arise when balancing individual and family member interests. As genetic testing becomes more, widespread situations will arise where clinicians are faced with a choice between preserving the confidentiality of one patient and preventing harm to another. Professionals need to incorporate the notion of familial implications in their counseling of individuals. Since such dilemmas have been relatively rare in the pre-genetic age, we call for a wider debate on the balance between confidentiality and harm to others.     

When Asthma Interrupts Sleep in Children

black triangle Levosalbutamol is a chirally pure beta(2)-adrenoceptor agonist developed from racemic salbutamol. black triangle The therapeutically inactive (S)-enantiomer in racemic salbutamol may be associated with increased airway hyperreactivity in patients with asthma. Levosalbutamol aims to provide equivalent control of symptoms to salbutamol but without this potential unfavourable effect. black triangle The pharmacodynamic and pharmacokinetic profiles of levosalbutamol were similar to those of racemic salbutamol and no additional effects were reported. Levosalbutamol was bronchoprotective following a methacholine challenge. black triangle A large clinical study demonstrated that inhaled levosalbutamol, 0.625mg or 1.25mg 3 times daily, provided effective relief from the symptoms of asthma. Levosalbutamol 0.625mg was at least as effective as racemic salbutamol 2.5mg. black triangle Levosalbutamol was well tolerated in clinical trials and the risk/benefit ratio was reported to be superior to that of racemic salbutamol.     

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

Mutations in the MECP2 (methyl-CpG-binding protein 2) gene are known to cause Rett syndrome, a well-known and clinically defined neurodevelopmental disorder. Rett syndrome occurs almost exclusively in females and for a long time was thought to be an X-linked dominant condition lethal in hemizygous males. Since the discovery of the MECP2 gene as the cause of Rett syndrome in 1999, MECP2 mutations have, however, also been reported in males. These males phenotypically have classical Rett syndrome when the mutation arises as somatic mosaicism or when they have an extra X chromosome. In all other cases, males with MECP2 mutations show diverse phenotypes different from classical Rett syndrome. The spectrum ranges from severe congenital encephalopathy, mental retardation with various neurological symptoms, occasionally in association with psychiatric illness, to mild mental retardation only. We present a 21-year-old male with severe mental retardation, spastic tetraplegia, dystonia, apraxia and neurogenic scoliosis. A history of early hypotonia evolving into severe spasticity, slowing of head growth, breathing irregularities and good visual interactive behaviour were highly suggestive of Rett syndrome. He has a de novo missense mutation in exon 3 of the MECP2 gene (P225L). The clinical spectrum and molecular findings in males with MECP2 mutations are reviewed.