Restless legs syndrome in Parkinson's disease: a case-controlled study.

Restless legs syndrome (RLS) is a disorder of motor activity with a circadian pattern, occurring frequently in patients with Parkinson's disease (PD). We sought to estimate the prevalence of RLS in Indian PD patients. One hundred twenty-six consecutive PD patients and 128 healthy age- and sex-matched controls were evaluated using a predesigned questionnaire. RLS was present in 10 of 126 cases of PD (7.9%) and 1 of 128 controls (0.8%, P = 0.01). PD patients with RLS were older than those without RLS (63.70 +/- 7.80 years vs. 57.37 +/- 10.04 years; P = 0.05) and had higher prevalence of depression (40% vs. 10.3%; P = 0.023). No demographic factors or factors related to PD correlated with the presence or severity of RLS. RLS is more common among patients with PD than controls. A greater medical recognition of this disorder is needed in view of available effective treatment.     

Secondary pharyngeal tuberculosis

Secondary tuberculosis of pharynx is a rare condition as pharynx is not a common site for clinically manifest tuberculosis. A rare and unusual case of secondary oropharyngeal tuberculosis in a 40 years male patient, who presented with an ulceroproliferative lesion of oropharynx extending to nasopharynx and laryngopharynx is being reported.     

Phenotypic effects of heterozygosity for a BRCA2 mutation

Heterozygous carriers of mutations in the BRCA2 gene have a high risk of developing breast and other cancers. In these individuals, BRCA2 appears to act as a tumour suppressor gene, in that loss of the wild type allele is frequently observed within tumours, leading to loss of BRCA2 function. Because BRCA2 functions in DNA repair via homologous recombination, this leads to genomic instability. However, it is unclear whether loss of the wild type allele is stochastic or if heterozygosity for BRCA2 mutation carries a phenotype that contributes to tumorigenic progression. Here we demonstrate that, in a specific vertebrate cell type, the chicken B cell line DT40, heterozygosity for a BRCA2 mutation has a distinct phenotype. This is characterized by a reduced growth rate, increased cell death, heightened sensitivity to specific DNA damaging agents and reduced RAD51 focus formation after irradiation. Thus in certain cell types, genome instability might be driven directly by heterozygosity for BRCA2 mutation.     

Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA)

X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the Bruton tyrosine kinase (BTK) gene. Twenty Australian patients with an XLA phenotype, from 15 unrelated families, were found to have 14 mutations. Five of the mutations were previously described c.83G>A (p.R28H), c.862C>T (p.R288W), c.904G>A (p.R302G), c.1535T>C (p.L512P), c.700C>T (p.Q234X), while nine novel mutations were identified: four missense c.82C>A (p.R28S), c.494G>A (p.C165Y), c.464G>A (p.C155Y), c.1750G>A (p.G584E), one deletion c.142_144delAGAAGA (p.R48_G50del), and four splice site mutations c.241-2A>G, c.839+4A>G, c.1350-2A>G, c.1566+1G>A. Carrier analysis was performed in 10 mothers and 11 female relatives. The results of this study further support the notion that molecular genetic testing represents an important tool for definitive and early diagnosis of XLA and may allow accurate carrier status and prenatal diagnosis.     

Cervical squamous intra-epithelial changes and human papillomavirus infection in women infected with human immunodeficiency virus in Pune, India

In view of the dual burden of HIV infection and cervical cancers in India, this study was undertaken to estimate the prevalence of Pap smear abnormalities and human papillomavirus infection among HIV-infected women. Consecutive HIV-infected women attending voluntary counseling testing clinics were enrolled. Written informed consent, demographic information, Pap smears, cervical swabs for HPV typing and a blood sample for CD4+ cell count were collected. Treatment for opportunistic and sexually transmitted infections and reproductive tract infections was provided. Women with Pap smear abnormality were referred for further intervention. Between January 2003 and May 2004, 287 HIV-infected women were enrolled. Pap smear abnormalities were seen in 6.3% women and were more common among women aged 30 and above (P=0.042) and those who had suffered from opportunistic infections (P=0.004). In multivariate analysis, Pap smear abnormalities were associated independently with opportunistic infections (P=0.02, AOR 3.8, 95% CI 1.2--11.5). Of the 100 random cervical specimens screened for HPV 16 and 18 genotypes, 33% (95 CI 23.9--43.1) were positive for HPV 16/18. Of the 122 patients who returned for a follow-up visit, 5 patients (4.1%) who did not have Pap smear abnormality at baseline, had developed Pap smear abnormality. The incidence of Pap smear abnormalities was 5.5 per 100 person year of follow-up. In order to prevent thousands of deaths due to cervical cancer in India, there is a need for strengthening the Pap smear screening program and HPV vaccine development.     

Role of lateral neck dissection in cancers of the larynx and hypopharynx with No neck

Radical neck dissection is a standard procedure carried out for the teatment of palpable nodes in the neck but if carried out electively in cases where there are no palpable nodes in the neck it is considered to be an overtreatment with its associated morbity. Lateral neck dissection was carried out on twenty patients who had T31 T4 lesion of the larynx and hypophar-vnx with NO neck. The dissection entails removal of Level II. III and IV nodes. Occult metastasis 80% and 85% respectively. The mean follow up was 13 monts. It appears from our study that elective lateral neck dissection is a promising and safe procedure and may be useful as an important prognostic tool in sampling the lymph nodes and predicting recurrences in the neck.     

Total versus subtotal hysterectomy: a survey of current views and practice among British gynaecologists.

This paper reports the results of a postal questionnaire, with a response rate of 61 per cent. It is clear from the results that subtotal hysterectomy is an unpopular operation in the United Kingdom. Although a majority of consultants felt that subtotal hysterectomy was less likely to affect urinary, bowel and sexual function, this did not seem to affect decision making. Seventy-eight per cent of female gynaecologists would prefer a total hysterectomy for themselves rather than a subtotal procedure.     

Linear Nevus Sebaceus Syndrome with bilateral complex limbal choristomas and extraocular muscle involvement

A case of a child with bilateral fleshy limbal masses with a coloboma of the right upper lid is discussed. Systemic examination revealed two patches of alopecia on the right frontoparietal and right occipital areas of the scalp. Punch biopsy and histopathological examination led to the diagnosis of Linear Nevus Sebaceus Syndrome (LNSS) with bilateral complex limbal choristomas. The authors have stated that they do not have a significant financial interest or other relatioship with any product manufacturer or provider of services discussed in this article. The authors also do not discuss the use of off-label products, which includes unlabeled, unapproved, or investigative products or devices.