Unusual Trigger for Contractile Movements of Optic Disc in Peripapillary Staphyloma.

Purpose: To report a case of contractile movements of the optic disc in peripapillary staphyloma.

Methods: A 65-year-old female received a comprehensive ophthalmic examination, multimodal imaging, and computed tomography.

Results: The patient was diagnosed with peripapillary staphyloma in her right eye.

Apparent prevention of neural tube defects by periconceptional vitamin supplementation. 1981.

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of periconceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US).

The epidemiology of myotonic dystrophy in Northern Ireland.

Multiple sources of ascertainment were used to identify families with myotonic dystrophy in Northern Ireland. A total of 59 families with 188 living affected members were identified. The prevalence rate was 119.

The KBG syndrome, characteristic dental findings: a case report.

Short stature and developmental delay may be observed in many genetic conditions and well-defined syndromes. A 7-year-old girl presented with the non-specific findings of subtle dysmorphism, short stature and developmental delay. Although a genetic syndrome was suspected, a definitive diagnosis was not made until the dental findings of KBG syndrome were recognised, namely grossly enlarged maxillary permanent central incisors and hypodontia.

What has happened to gene therapy?

Unlabelled: Trials have demonstrated the feasibility of gene therapy in correcting the gene defect in monogenic disorders such as severe combined immune deficiency and cystic fibrosis, but there are still obstacles and ethical issues to overcome.

Conclusion: With appropriate research, better delivery strategies and adherence to good standard clinical research and practice, gene therapy research will lead to clinical implementation in monogenic and multifactorial disorders including cancer, neurodegenerative disorders and vascular disease.

Additional glomangioma families link to chromosome 1p: no evidence for genetic heterogeneity.

Venous malformations are a common abnormality of the vasculature that may occur sporadically or, more rarely, as an autosomal dominant trait. One familial form of venous malformations has previously been linked to chromosome 9p. Mutations in the gene encoding Tie2, an endothelial specific receptor tyrosine kinase, have been identified in four different families.

Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland.

Objectives: To investigate a reported cluster of Down's syndrome in offspring of former pupils of a girls' school in Ireland, to establish the prevalence of Down's syndrome among live births in the area around the school, and to review the literature on the possible causes of reported clusters of Down's syndrome.

Methods: Questionnaire survey of obstetric and personal histories of women who had attended the girls' school at Dundalk, County Louth, Republic of Ireland, at some time during 1956-7, and also of women who had attended another, nearby, girls' school during the same period. Comparison of observed numbers of cases of Down's syndrome identified by these surveys with maternal age adjusted expected numbers for the reported live births.

First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISH.

Partial trisomy of 19q has been reported in only 13 patients, of which all but one have been due to unbalanced translocations. Only one previous report of a de novo duplication of distal 19q has been described in a fetal chorionic villus sample. There was no description of clinical phenotype in this report.

Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia.

Background: Associations between genotype and intellectual outcome in patients with phenylketonuria are complicated because intelligence is influenced by many variables, including environmental factors and other genetic determinants. Intellectual changes with age, both on and after relaxation of diet, vary within the patient population. This study aims to determine whether a significant association exists between genotype and change in intelligence after relaxation of diet.

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer.

Protocols for activity aiming at early diagnosis and treatment of inherited breast or breast-ovarian cancer have been reported. Available reports on outcome of such programmes are considered here. It is concluded that the ongoing activities should continue with minor modifications.