PINK1 mutations in sporadic early-onset Parkinson's disease.

Pathogenic PINK1 mutations have been described in PARK6-linked Parkinson's disease (PD) patients of Asian origin. However, data on the frequency of PINK1 mutations in sporadic early-onset Parkinson's disease (EOPD) Asian patients are lacking. The objectives of this study were to report the frequency of PINK1 mutations of sporadic EOPD in an Asian cohort comprising of ethnic Chinese, Malays, and Indians, and to highlight a PINK1-positive patient who presented with restless legs symptoms. Eighty consecutive sporadic EOPD patients from the movement disorder clinics of two major tertiary institutions in the country were included. We performed sequence analysis of all the coding and exon-intron junctions of the PINK1 using specific primer sets. In addition, we genotyped polymorphisms detected from the analysis in a group of sporadic PD patients and controls. Three different mutations (two homozygous nonsense and one heterozygous missense) in the putative kinase domain were found in three patients, giving a 3.7% frequency of PINK1 mutations in our EOPD cohort. All the mutations were absent in 200 healthy controls. One patient with a novel homozygous nonsense PINK1 mutation presented unusually with restless legs symptoms. Separately, analysis of the frequency of four PINK1 polymorphisms in a group of sporadic PD and controls did not reveal any significant differences. We highlight a 3.7% frequency of PINK1 mutations in an Asian cohort (ethnic Chinese, Malay, and Indian) of EOPD. The phenotypic spectrum associated with PINK1-positive patients may be wider than previously reported. Polymorphisms of PINK1 do not appear to modulate risk of PD in our population.     

Balance and gait improved in patients with MS after physiotherapy based on the Bobath concept

Background and Purpose . Patients with multiple sclerosis (MS) tend to have movement difficulties, and the effect of physiotherapy for this group of patients has been subjected to limited systematic research. In the present study physiotherapy based on the Bobath concept, applied to MS patients with balance and gait problems, was evaluated. The ability of different functional tests to demonstrate change was evaluated. Method . A single‐subject experimental study design with ABAA phases was used, and two patients with relapsing–remitting MS in stable phase were treated. Tests were performed 12 times, three at each phase: A (at baseline); B (during treatment); A (immediately after treatment); and A (after two months). The key feature of treatment was facilitation of postural activity and selective control of movement. Several performance and self‐report measures and interviews were used. Results . After intervention, improved balance was shown by the Berg Balance Scale (BBS) in both patients, and improved quality of gait was indicated by the Rivermead Visual Gait Assessment (RVGA). The patients also reported improved balance and gait function in the interviews and scored their condition as ‘much improved’. Gait parameters, recorded by an electronic walkway, changed, but differently in the two patients. Among the physical performance tests the BBS and the RVGA demonstrated the highest change, while no or minimal change was demonstrated by the Rivermead Mobility Index (RMI) and Ratings of Perceived Exertion (RPE). Conclusion . The findings indicate that balance and gait can be improved after physiotherapy based on the Bobath concept, but this should be further evaluated in larger controlled trials of patients with MS. Copyright © 2006 John Wiley & Sons, Ltd.     

Complications of needle localization of foreign bodies and nonpalpable breast lesions

Needle-wire localization of foreign bodies and nonpalpable breast lesions is commonly used to allow for more accurate excision or biopsy. We present three examples of complications of the localization procedure: (1) wire migration into the chest wall with retained fragment, (2) transection of a wire during biopsy with retained hook fragment, and (3) wire migration within the thigh soft tissues with breakage at the hooked end. Recommendations to minimize the incidence of these complications and their sequelae include (1) bending the hookwire 90 degree at the skin surface following localization, (2) transferring the patient between the radiology suite and the operating room via a stretcher, with minimal movement of the body part localized, and (3) accounting for the entire length of wire by the surgeon, pathologist, and radiologist following the procedure to exclude retained fragments.     

Studies on the actions of glutaraldehyde, formaldehyde, and mixtures of glutaraldehyde and formaldehyde on tissue proteins

The effects of aldehyde fixation on tissue proteins was studied using SDS-polyacrylamide gel electrophoresis. Fixation with low concentrations of formaldehyde or glutaraldehyde had only a slight effect on the protein banding pattern. On the other hand, most of the original protein bands were absent after a short treatment with mixtures of formaldehyde and glutaraldehyde. Spectral absorption measurements showed a stronger absorption at both gamma = 280 nm and gamma = 235 nm with the glutaraldehyde-formaldehyde mixture than with glutaraldehyde alone.     

Antiphospholipid antibodies in pre-eclamptic women: relation to growth retardation and neonatal outcome.

The significance of antiphospholipid antibodies in pre-eclamptic women has not been thoroughly elucidated. The purpose of this study was to determine the proportion of pre-eclamptic women who were antiphospholipid antibody positive, and to elucidate the significance of these antibodies regarding growth retardation and neonatal outcome. Positive levels of anticephalin antibodies, which are antiphospholipid antibodies, were detected in 7 (19%) out of 37 pre-eclamptic women, as compared with none of 40 in a control group of normotensive women at similar stage of pregnancy (p = 0.004). The birthweight percentiles of the neonates of anticephalin antibody positive women were significantly lower than those of the neonates of anticephalin antibody negative women (p = 0.018). Four of 7 infants of anticephalin antibody positive women were growth retarded (less than 2.5th percentile). This was a significantly larger proportion than that for anticephalin antibody negative women (3/30) (p = 0.004). The 95% confidence interval for the difference between the two proportions was 0.10 to 0.85. Two of the 7 neonates of anticephalin antibody positive women died during the neonatal period, compared with none of the 30 neonates of anticephalin antibody negative women (p = 0.003). Thus, our study suggests that positive levels of anticephalin antibodies in pre-eclamptic women increase the risk for growth retardation and neonatal death.