Coexistence of paternally-inherited mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.

Background: Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome with variable clinical phenotype and complex molecular aetiology. It is mainly caused by dysregulation of the chromosome 11p15 imprinted region, which results in overgrowth in multiple tissues, often in a mosaic manner.

Case Presentation: A large-for-gestational-age infant without any other somatic features of BWS presented with medically refractory hyperinsulinism (HI) requiring 80% pancreatectomy.

Knowledge, practices and expectations of preventive care: a qualitative study of patients attending government general outpatient clinics in Hong Kong.

Background: Evidence-based preventive care recommendations have been well established, but studies have persistently reported gaps between these recommendations and general practitioners' practices in providing preventive care. Many studies have explored factors that affect the delivery of preventive care from the perspectives of the practitioners, but relatively few have evaluated the patients' point of view. The purpose of this study was to explore patients' understanding of preventive care, the actions they were taking in terms of preventive health and their expectations from family doctors in providing preventive care.

The clinical utility of PGD with HLA matching: a collaborative multi-centre ESHRE study.

Study Question: Has PGD-HLA been successful relative to diagnostic and clinical efficacy?

Summary Answer: The diagnostic efficacy of PGD-HLA protocols was found lower in this study in comparison to published PGD-HLA protocols and to that reported for general PGD by ESHRE (78.5 vs 94.1% and vs 92.

Eclampsia-an 11-year experience.

A retrospective study of all deliveries from 1983 to 1993 at the Tsan Yuk Hospital to evaluate the incidence was performed and outcome of eclampsia. Eclampsia occurred in 12 patients. The incidence was approximately 2 per 10,000 deliveries and was relatively constant during the study period.

Cervical smear screening: questionnaire study of histories and attitudes of patients with squamous cervical carcinoma.

OBJECTIVE: To determine why invasive cervical carcinoma still occurs despite the availability of cervical smear screening services. DESIGN: Questionnaire survey and retrospective study of patient records of women who attended a gynaecological oncology out-patients clinic from 13 February 1997 to 30 June 1997. SETTING: Public hospital, Hong Kong.

Gestational diabetes diagnosed in third trimester pregnancy and pregnancy outcome.

Background: The clinical significance of gestational diabetes diagnosed in the third trimester is unclear. A prospective observational study was performed on a cohort of women without pre-existing gestational diabetes or other medical disorders to examine the effect of gestational diabetes on pregnancy complications and infant outcome.

Methods: Four hundred and eighty-nine consecutive women were assessed at 28-30 weeks by random glucose screening and/or a 75 g oral glucose tolerance test.

Embryonic and fetal globins are expressed in adult erythroid progenitor cells and in erythroid cell cultures.

The understanding of human hemoglobin ontogeny during development is of biological and clinical importance. Molecular and immunocytological techniques were used to study the expression of embryonic zeta (zeta), epsilon (epsilon), and fetal gamma (gamma) globin genes in newborn cord blood, peripheral blood from men, pregnant and non-pregnant women, and in vitro mononuclear cell cultures. We have shown that embryonic and fetal globin mRNA and peptides are expressed in cultured erythroid cells and in circulating blood cells from newborns, adult non-pregnant women and from men.