Raising awareness of carrier testing for hereditary haemoglobinopathies in high-risk ethnic groups in the Netherlands: a pilot study among the general public and primary care providers

Background  

In the Netherlands no formal recommendations exist concerning preconceptional or antenatal testing for carriership of hereditary haemoglobinopathies. Those at highest risk may be unaware of the possibility of carrier screening. While universal newborn screening has recently been introduced, neither preconceptional nor antenatal carrier testing is routinely offered by health care services to the general public. A municipal health service and a foundation for public information on medical genetics undertook a pilot project with the aim of increasing knowledge and encouraging informed choice. Two groups were targeted: members of the public from ethnic groups at increased risk, and primary health care providers. This study examines the effectiveness of culturally specific 'infotainment' to inform high-risk ethnic groups about their increased risk for haemoglobinopathies. In addition, the study explores attitudes and intentions of primary care providers towards haemoglobinopathy carrier testing of their patients from high-risk ethnic groups.     

Growth and the sudden infant death syndrome

Objective : To compare the growth curves based on measurements of body weight for male and female infants dying of sudden infant death syndrome (SIDS) with those of male and female controls. Methods : The data were drawn from a large case control study of SIDS carried out in New Zealand between 1987 and 1990. Results : The mean birthweight for the cases was 3049 g and for the controls 3526 g. The mean growth curves for the male and female controls were close to the 50th centile of growth charts used in New Zealand. The growth curve for the male cases diverged from that of the controls, being closer to the 25th percentile. The differences between the female cases and controls were less pronounced. The differences in weekly weight increments derived from the curves for the cases and controls for nine 4-week periods were not statistically significant after taking into account race, manner of feeding and maternal smoking for any 4-week period. Conclusions : SIDS cases were lighter at birth, but their growth velocity was normal postnatally.     

Eosinophilic folliculitis in a Caucasian patient: association with toxocariasis?

Sterile eosinophilic folliculitis, a clinical entity first described by Ofuji in 1970, is a rather rare skin disorder, in particular in the non-Asian population. We report the first case of eosinophilic folliculitis associated with toxocariasis in a Caucasian patient. Topical and systemic anti-inflammatory and antiphlogistic therapy along with systemic antihelminthic treatment resulted in complete remission of the skin lesions. In addition, there was a marked decrease of antibodies to Toxocara antigens in the patient's serum following antihelminthic therapy. Given that (I) some cases of eosinophilic folliculitis have been reported which were associated with infestation with metazoan parasites; (2) infestations with the roundworm Toxocara canis are known to induce eosinophilic reactions in some tissues; and (3) therapy-induced remission of eosinophilic folliculitis was accompanied by a decrease of Toxocara-directed antibodies in the patient's serum, we propose that there is an aetiopathogenic link between toxocariasis and eosinophilic folliculitis in this patient.     

The needs of patients with rare disease in Serbia. Why do we need National Strategy for rare disease?

The patients with rare diseases in Serbia face the difficulties in procurement of medications as the Health insurance fund does not cover reimbursement for some medications, they face difficulties in receiving proper diagnosis which makes their position specific and complex. In an attempt to provide more support for the patients with rare diseases, their families and caregivers the helpline for rare diseases was established in October 2015. The aim of this research was to identify, examine and systematise needs of helpline users and forms of assistance provided by the team from the free helpline. The research was designed as a cross‐sectional study and was conducted between October 2015 and December 2016. The electronic database of National Organization for rare disease in Serbia helpline users was used as a data source. The user was the person who contacted helpline (patient, relative, friend, physician, etc). The “need” refers to the reasons for addressing the helpline. Helpline users had 549 needs in total; about healthcare—236 (42.98%), social care—113 (20.58%), psychological support—56 (10.20%) and other—144 (26.22%). Services were provided by the lawyer—130 (23.70%), social worker—71 (12.93%), Psychologist—56 (10.20%) and by all employees—292 (53.19%). The most common need for legal assistance among needs on healthcare was on legal aspects of access to and reimbursement of expenses for medications (32/74%–43.24%) and procedures for reimbursement of treatment abroad (11/74%–14.86%). The problems of patients with rare diseases and their families result primarily from the lack of relevant information and knowledge, as well as the non‐recognition of rare diseases in the laws and regulations of health and social care. Some problems can simply be solved by legal changes and by a better organisation and do not require additional funding. Only by adopting and implementing the National Strategy and Action Plan for Rare Diseases, the greatest number of problems and needs of people with rare diseases can be systematised and solved.     

Efficacy of oral iron supplementation is not enhanced by additional intravenous iron during autologous blood donation

BACKGROUND: The study compared the efficacy of oral iron combined with intravenous iron supplementation to that of oral iron supplementation alone in increasing the preoperative production of hemoglobin (Hb) in autologous blood donors with normal iron stores. STUDY DESIGN AND METHODS: One hundred eight iron-replete patients who were scheduled for donation of 3 units of autologous blood at weekly intervals were randomly assigned to receive, in a double-blind fashion, no iron supplementation (placebo, Group 1), oral iron supplementation (285.6 mg of elemental iron/day, Group 2), or oral iron plus intravenous iron supplementation (285.6 mg of elemental iron/day orally plus 102.5 mg of elemental iron/week intravenously, Group 3). The amount of Hb produced during the 21-day study period was determined by the total amount of Hb donated minus the change in the amount of circulating Hb between the first donation (Day 0) and the poststudy examination (Day 21). RESULTS: Hb production did not differ significantly in the two iron-supplemented groups (oral iron, 85 +/− 36 g; oral plus intravenous iron, 74 +/− 43 g). The patients in the oral iron group produced a significantly greater amount of Hb than those in the placebo group (85 +/− 36 g vs. 52 +/− 41 g, p < 0.01). CONCLUSION: Oral iron supplementation increased the production of Hb in autologous blood donors more than placebo did. Additional intravenous iron did not lead to a further increase in preoperative Hb production.