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.     

Disability,depression and somatization in a low back pain population

Objective: The aim of this study was to determine the prevalence of low back pain (LBP) in a primary care setting population and examine its association with the symptoms of depression and somatization. Methods: This is a cross‐sectional study, utilising a survey carried out in primary health care clinics (PHCs) in Al‐Ain, United Arab Emirates (UAE). A multistage stratified sampling design was used and a representative sample of 1304 UAE nationals aged 18–65 years who attended PHC clinics for any reason were included and 1103 (84.5%) subjects agreed to participate and responded to the questionnaire during a period from June 2001 to January 2002. A specially designed questionnaire with three parts was used for the data collection: socio‐demographic information of the studied subjects, modified version of the Roland‐Morris scale for evaluating back‐related functional disability and SCL‐90 R for depression and somatization subscales was used to assess depressive and somatic symptoms. Results: Of the total number of subjects surveyed (1103), 586 (53.1%) were men and 517 (46.9%) women. The mean age was 34.9 ± 13.4 years for men and 33.5 ± 11.8 years for women. The prevalence of LBP in the studied subjects was 64.7% (95% CI, 60.7–68.5] with 46.7% among men and 53.3% among women. There were a significant differences between the subjects with LBP and without LBP with respect to gender (P < 0.001), body mass index (BMI) (P < 0.001), occupational status (P < 0.001) and living environment (P = 0.016). Functional disability was higher in patients with LBP. Young patients in aged 15–34 years, patients with preparatory/secondary educational level and students showed higher depressive symptoms. A similar pattern was found in patients with somatic symptoms. Factor analysis revealed a strong association between depression and somatization in LBP patients. Conclusions: Functional disability was higher in with LBP. Furthermore, symptoms of depression and somatization are prevalent among LBP patients.     

A combined course of primary health care practice and family medicine at the University of Gezira

The community-based course presented is a longitudinal course running through four semesters in the Faculty of Medicine, University of Gezira, Sudan. Students combine their regular work in primary health care centres with attachments to a number of families in Wad Medani town. They continue to visit these families regularly throughout their entire medical course with the aim of studying them and helping them with some of their medical and psychosocial problems.     

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.