Osler-Weber-Rendu Disease Uncovered by Preeclampsia in a Case Report

Osler-Weber-Rendu disease (OWRD), called hereditary hemorrhagic telangiectasia, is an uncommon genetic illness with the dominant autosomal transmission. It cannot be easily or quickly diagnosed because of both its infrequency and its various associated symptoms. As far as its symptoms are concerned, the patient experiences recurring epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations that can lead to severe undesirable symptoms. In our case, we report a 32-year-old female that was diagnosed with postpartum preeclampsia and whose paraclinical examinations showed that she suffers from hereditary hemorrhagic telangiectasia disease. Management of OWRD includes systematic diagnosis of visceral arteriovenous malformations (AVMs) in regular intervals, measures to prevent complications, and symptomatic treatment.

ESTIMATING THE HEALTH AND SOCIOECONOMIC EFFECTS OF COUSIN MARRIAGE IN SOUTH ASIA

The effects of marriage between biological relatives on the incidence of childhood genetic illness and mortality are of major policy significance, as rates of consanguinity exceed 50% in various countries. Empirical research on this question is complicated by the fact that consanguinity is often correlated with poverty and other unobserved characteristics of households, which may have independent effects on mortality. This study has developed an instrumental variables empirical strategy to re-examine this question, based on the concept that the availability of unmarried cousins of the opposite gender at the time of marriage creates quasi-random variation in the propensity to marry consanguineously. Using primary data collected in Bangladesh in 2006–07 and Pakistan in 2009–10, the study found that previous estimates of the impact of consanguinity on child health were biased and falsely precise. The study also empirically investigated the social and economic causes of consanguinity (including marital quality) and concludes that marrying a cousin can have positive economic effects for one’s natal family, by allowing deferral of dowry payments until after marriage.

Changes in Attitudes towards Marriage and Reproduction among People with a Genetic Illness

In this article, the change in attitude towards marriage and reproduction among Iranian people with a genetic illness called thalassemia has been investigated, along with an analysis of the impact brought by the national thalassemia prevention programmes, which were introduced to discourage marriage between carriers (thalassemia minor) and the birth of severe homozygous cases (thalassemia major). Marriage and reproductive choices of people with both thalassemia minor and thalassemia major were focused upon in order to prevent the birth of affected babies. Thalassemia carrier couples prefer to choose abortion of affected foetuses, rather than giving up their marriage, and some people with thalassemia major choose a person with thalassemia major as a marriage partner, though they must give up having their own child.

Behavioural management of Prader-Willi syndrome

Prader-Willi syndrome is a genetic illness associated with a defect on chromosome 15. It presents with hypotonicity in infancy followed by voracious appetite and gross obesity from early childhood and with a range of other clinical and behavioural sequelae. This case report is of an adolescent boy who was admitted to a psychiatric unit for an intensive behavioural programme to control his weight gain and deal with associated behavioural problems, and demonstrates that an inpatient programme can lead to sustainable improvements in weight control and other indicators of well-being in PWS patients.