Hand positioning sense in children with spina bifida myelomeningocele

This study was undertaken to establish whether children with myelomeningocele have abnormal kinaesthesia of the hands. Twenty-one children with myelomeningocele and 21 control children, aged between six and 12 years, were involved in the study. The level of kinaesthetic awareness in the hands was measured by examining the child's ability to copy hand positions, using visual cueing and kinaesthetic cueing. Both accuracy and speed of copying hand gestures were assessed. Children with spina bifida were significantly less accurate in achieving hand positions than the control group (chi((1))(2) 22.60, p < 0.001), with 73% of the children with spina bifida achieving accurate replications compared with 87% in the control group. Furthermore, children with myelomeningocele were shown to be slower than the controls (F-(1,F-2810) = 15.49, p < 0.001). The impaired kinaesthetic awareness found in this study is considered to be one of the factors behind the poor hand function observed in children with myelomeningocele.

The co-segregation of psychosis and selected physical disorders within families of patients with psychosis versus well controls

While it has been reported that individuals with psychosis are at increased or decreased risk of various physical disorders such as cancer and rheumatoid arthritis, there has been less research on the co-segregation of physical disorders within the first-degree relatives of those with psychosis compared to relatives of well controls. The aim of this study was to examine these issues in an epidemiologically informed catchment-area based case-control study. Patients with psychosis were drawn from a prevalence study undertaken as part of the Australian National Mental Health Survey. In addition, we recruited well controls who resided in the same catchment area. For each subject, we drew pedigrees and used a structured checklist to assess the presence of selected psychiatric disorders, and selected disorders such as multiple sclerosis, epilepsy, spina bifida, thyroid disorders, diabetes, asthma and eczema. Data based on pedigrees from 293 individuals with psychosis and 292 well controls was available. As expected, the odds of havingschizophrenia and affective disorders were significantly increased in the families of cases versus controls. The odds of havingeczema were significantly reduced in the relatives of those with psychosis. All other disorders occurred with equal frequency in cases versus control pedigrees. Current theories of eczema suggest that an absence of early life exposure to antigens and infectious agents may fail to prime the na¨ıve immune system, and leave the person at increased risk of eczema. The results of this study suggest that genetic andror environmental factors that facilitate psychosis may protect against eczema. The Stanley Foundation supported this project.

Resting energy expenditure and body composition in children with myelomeningocele

Purpose : Myelomeningocele is a complex disease often complicated by obesity for reasons not well understood. The objectives of this study were to determine body composition and energy expenditure of children with MMC. Methods : Resting energy expenditure (REE), body composition and anthropometry were measured in 19 children with MMC (12 M, 7 F). Total energy expenditure (TEE) was estimated using a 3-day activity record. Energy intake (EI) was measured in seven children (5 M, 2 F) with MMC. Data were then compared with predicted values. Results : Mean REE ( n = 19) was 4680 ±1452 kJ/day (96.1 ±18.1% of predicted REE). The range was large (45.8-125.7% of predicted REE). TEE ( n = 7) was 4344 ±2376 kJ/day, hence only 73 34% of predicted TEE. EI ( n = 7) was 6560 ±1329 kJ/day, approximating a normal energy requirement. Overall, BCM was lower than expected values. Conclusions : REE in children with MMC is variable when compared to predicted values. TEE was found to be lower in children with MMC than predicted values and EI was similar to predicted values in this group of seven children. BCM is reduced in children with MMC when compared to expected values.

Expression and localization of mutant p16 proteins in melanocytic lesions from familial melanoma patients

Little is known about the correlation between the loss of p16 expression and tumor progression in familial melanoma; no systematic study has been conducted on p16 expression in melanocytic tumors from patients carrying germline CDKN2A mutations. We analyzed 98 early primary lesions from familial patients, previously tested for germline CDKN2A status, by quantitative immunohistochemistry using 3 p16 antibodies. We found that p16 expression was inversely correlated with tumor progression and was significantly lower in melanomas,. including in situ lesions, than in nevi. Of other features analyzed, tumor thickness showed the most significant correlation with p16 levels. Lesions from mutation-negative patients displayed combined nuclear and cytoplasmic staining. However, some mutation-positive lesions (ie, G101W, 113insR, M53I, R24P, and 33ins24), including benign nevi, showed nuclear mislocalization, confirming previous studies suggesting that subcellular distribution indicates functional impairment of p16. (C) 2004 Elsevier Inc. All rights reserved.