Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome

A brother and sister are described with severe microcephaly of prenatal onset, normal intellectual and motor development, chromosomal breakage and cellular immunodeficiency, which is characteristic of the autosomal recessive condition, Nijmegen breakage syndrome. The proband was a girl who presented at 15 months, with normal developmental milestones and an extremely small head circumference of 36 cm. Twenty per cent of her lymphocytes showed spontaneous translocations involving chromosome 7p13, 7q35, 14q11, and 14q32. The lymphocytes also showed excessive x ray induced chromosome damage. She had T cell lymphopenia, but normal immunoglobulins, and a normal alpha fetoprotein. A brother was born shortly after her diagnosis was made. He also had extreme microcephaly of 28 cm, with similar spontaneous and x ray induced chromosomal breakage, and T cell lymphopenia. Neither child has clinical evidence of immunodeficiency. To test the hypothesis that Nijmegen breakage syndrome and ataxia telangiectasia are allelic disorders, haplotype analysis was carried out in the family using DNA markers spanning the AT locus on chromosome 11q22. The affected boy had a different haplotype from his affected sister. Thus in this family, the Nijmegen breakage syndrome is not allelic to the ataxia telangiectasia locus on chromosome 11q, and the two conditions are genetically distinct. The normal intellect in these children raises questions about normal brain development in the presence of severe microcephaly.     

Development and validation of a new instrument for testing functional health literacy in Japanese adults

This study aimed to develop a reliable and valid measure of functional health literacy in a Japanese clinical setting. Test development consisted of three phases: generation of an item pool, consultation with experts to assess content validity, and comparison with external criteria (the Japanese Health Knowledge Test) to assess criterion validity. A trial version of the test was administered to 535 Japanese outpatients. Internal consistency reliability, calculated by Cronbach's alpha, was 0.81, and concurrent validity was moderate. Receiver Operating Characteristics and Item Response Theory were used to classify patients as having adequate, marginal, or inadequate functional health literacy. Both inadequate and marginal functional health literacy were associated with older age, lower income, lower educational attainment, and poor health knowledge. The time required to complete the test was 10–15 min. This test should enable health workers to better identify patients with inadequate health literacy.     

Quality analysis of patient information on surgical treatment of haemorrhoids on the internet

Introduction

Haemorrhoids are the most common benign condition seen by colorectal surgeons. At clinic appointments, advice given about lifestyle modification or surgical interventions may not be understood fully by patients. Patients may use the internet for further research into their condition. However, the quality of such information has not been investigated before. This study assessed the quality of patient information on surgical treatment of haemorrhoids on the internet.

Methods

Four searches were carried out using the search terms ‘surgery for haemorrhoids’ and ‘surgery for piles’ on two search engines (Google and Yahoo). The first 50 results for each search were assessed. Sites were evaluated using the DISCERN instrument.

Results

In total, 200 websites were assessed, of which 144 fulfilled the inclusion criteria. Of these, 63 (44%) were sponsored by herbal remedies for haemorrhoids. Eighty-nine (62%) mentioned conservative treatment options but eleven (8%) did not include surgery in their treatment options. Only 38 sites (27%) mentioned recurrence of haemorrhoids following surgery and 28 sites (20%) did not list any complications. Overall, 19 websites (14%) were judged as being of high quality, 66 (45%) as moderate quality and 58 (40%) as low quality.

Conclusions

The quality of information on the internet is highly variable and a significant proportion of websites assessed are poor. The majority of websites are sponsored by private companies selling alternative treatments for haemorrhoids. Clinicians should be prepared to advise their patients which websites can provide high-quality information on the surgical treatment of haemorrhoids.     

Baby Business: a randomised controlled trial of a universal parenting program that aims to prevent early infant sleep and cry problems and associated parental depression

Background  

Infant crying and sleep problems (e.g. frequent night waking, difficulties settling to sleep) each affect up to 30% of infants and often co-exist. They are costly to manage and associated with adverse outcomes including postnatal depression symptoms, early weaning from breast milk, and later child behaviour problems. Preventing such problems could improve these adverse outcomes and reduce costs to families and the health care system. Anticipatory guidance-i.e. providing parents with information about normal infant sleep and cry patterns, ways to encourage self-settling in infants, and ways to develop feeding and settling routines before the onset of problems-could prevent such problems. This paper outlines the protocol for our study which aims to test an anticipatory guidance approach.