Van der Woude syndrome: dentofacial features and implications for clinical practice

Background:  Van der Woude syndrome (VWS) is the most common clefting syndrome in humans. It is characterized by the association of congenital lower lip fistulae with cleft lip and/or cleft palate. VWS individuals have a high prevalence of hypodontia. Although caused by a single gene mutation, VWS has variable phenotypic expression. This study aimed to describe the range of clinical presentations in 22 individuals with VWS to facilitate its diagnosis.
Methods:  A retrospective study of 22 patients with a diagnosis of VWS was undertaken at the Australian Craniofacial Unit (ACFU) in Adelaide. Three extended families with affected members were included in the study cohort.
Results:  The overall prevalence of lip pits in this study cohort was 86%. Cleft phenotypes included bilateral cleft lip and palate (32%); unilateral cleft lip and palate (32%); submucous cleft palate (23%); and isolated cleft hard and soft palate (9%). Missing permanent teeth were reported in 86% of affected individuals.
Conclusions:  Submucous cleft palate in VWS may go undiagnosed if the lower lip pits are not detected. Associated hypodontia and resultant malocclusions will also require management by a dental team.     

Leg ulceration and ethnicity: a study in west London

Little is known of the influence race has on the development of leg ulceration, with most studies being performed in almost exclusively white populations. As part of a wider audit of leg ulcer services, health care professionals were contacted to give details of age, sex and ethnic background of all patients who attended for treatment of leg ulceration over a one year period in an area of west London. West London Health Care Trust provides services to a population of 275000 of whom 53000 have an ethnic background from the Indian subcontinent (South Asian).In all, 280 patients were identified, of whom 264 (94%) had details of age and sex. This gave a crude ascertainment rate of 1.02 per 1000 population. Of the 264 patients, five were classified as South Asians, with one patient classified as Afro-caribbean. The Mantel Haenzsel test demonstrated a significantly higher proportion of whites suffering from leg ulceration than South Asians, giving an odds ratio of 4.43, with 95% confidence intervals between 1.94 and 10.13 (P=0.0004). The expected frequency of South Asian patients should be 23, based on rates from the white population, of which 13 would be women and 10 men. Only five South Asian men were identified, and no Asian women with leg ulceration.Reasons for this low ascertainment are two-fold. Either there is a real difference between the white and South Asian populations, or South Asian patients are not presenting for treatment. Further work must be performed to determine whether this is an effect of low prevalence, or unmet need in the community.     

PATIENT ACCIDENTS IN HOSPITAL: INCIDENCE,DOCUMENTATION AND SIGNIFICANCE

SUMMARY Many previous studies of reported patient accidents in hospital used the accident report forms as the only data source, without questioning their reliability and despite 80% of the accidents being unwitnessed. This paper reports on three studies using data from patient interviews, staff questionnaires, medical and nursing notes and the accident report forms. The studies confirm that falls amongst elderly patients are the most common type of patient accident. However, patients' and staff's versions of the event often differed widely. Accident reports are stated to be required for legal purposes, but they were often incomplete and unreliable. Patient accidents and safety are too important to remain marginalised to mere compliance with out-of-date regulations. A new, ‘slim-line‘, more accurate but less time-consuming patient accident reporting system should be developed, for which improvement in patient safety is the main aim and legal considerations the secondary aim.     

Trabecular bone architecture in female renal allograft recipients-- assessed by computed tomography

BACKGROUND: Osteopenia with decreased bone mineral density (BMD) is a frequent finding in renal allograft recipients. Data concerning the bone architecture in these patients do not exist, however. METHODS: We compared the bone architecture of 33 randomly assigned women (age 49 +/- 12 years), who had received renal allografts 5.6 +/- 5.3 years before the investigation, with 74 women (age 50 +/- 14 years) who were admitted for osteodensitometry. All patients underwent single-energy computed tomography (SEQCT) and a midvertebral high-resolution tomography with computer-assisted analysis of the trabecular vertebral body architecture. RESULTS: Progressive alteration of bone architecture was associated with increasing vertebral height loss of the vertebral body. Height reduction of a vertebral body of more than 15% was associated with a significantly lower BMD (-2.3 +/- 0.8 versus -1.1 +/- 1.1 standard deviations below normal BMD), a lower trabecular bone area (13 +/- 8% versus 42 +/- 22%) and a lower trabecular diameter (1.4 +/- 0.5 mm versus 2.2 +/- 0.8 mm) compared to recipients without height reduction. In comparison to a matched group of patients with similarly reduced BMD (1.1 +/- 1.2 versus 1.2 +/- 1.1 SD below normal BMD), renal allograft recipients showed a lower number of trabecular plates (5.6 +/- 3.1 versus 7.0 +/- 3.7) and a smaller intertrabecular surface (54 +/- 116 mm versus 75 +/- 138 mm). CONCLUSIONS: Alterations of bone architecture in renal allograft recipients were associated with progressive vertebral height loss. Despite similar bone mineral density, differences of bone architecture could be observed between renal allograft recipients and patients with osteoporosis.      

Gene Probe Analysis in an Informative Family with Multiple Endocrine Neoplasia Syndrome Type 2A (MEN 2A). Improvement in Carrier Risk Estimation

Gene probe analysis of the MEN 2A locus on chromosome 10 hasbeen undertaken using the markers TB10.163, RBP 3 and TB14.34in a large kindred with familial medullary thyroid carcinomas,with or without phaeochromocytomas or primary hyperparathyroidism.A maximum LOD score of 2.97 gave strong evidence of close linkagewith zero recombination. For 12 members of the family so far not known to be affectedby any form of the disease the estimated risk of carrying thegene has been considerably decreased in all but one, whose riskhas been greatly increased.