Dystrophin gene deletions in South Indian Duchenne muscular dystrophy patients

66 unrelated patients from Southern India with Duchenne Muscular Dystrophy (DMD) were studied for intragenic deletion in 18 exons and Pm region of the DMD gene using multiplex PCR. Of these 41 (62.1%) showed intragenic deletions. 78% of the deletions were located at the distal hotspot region (44-55 exons) and 22% of the deletions were located at the proximal region (exon 2-19). Exon 50 is most frequently deleted. Deletions in isolated cases were significantly more compared to familial cases. The lower incidence reported from South India compared to North India, is suggestive of variations in the Southern and Northern population.     

The in-vitro effect of a titanium implant on oral microflora: comparison with other metallic compounds

Dental implant research has been mostly concerned with the biocompatibility of materials for implantation. In this study the effects of titanium dioxide and other metallic salts on seven bacterial species commonly found in dental plaque, two which are uncommon, and a yeast, were determined by agar incorporation and diffusion techniques, and compared with the effects of a titanium implant abutment. Neither the titanium dioxide nor the implant abutment demonstrated any inhibitory activity, although other compounds such as cobalt used in dental alloys had some effects.     

Effect of forced breathing on ventilatory functions of the lung

Ventilatory functions were studied in 36 male and 35 female subjects (mean age 18.5 years), who underwent six weeks course in forced breathing. Ventilatory functions were studied in the form of Forced Vital Capacity (FVC), Forced Expiratory Volume at the end of one second as % of FVC (FEV1%), Maximum Voluntary Ventilation (MVV), Peak expiratory flow rate (PEFR) and Breath Holding Time. Some of these ventilatory functions were found to be increased after a course of forced breathing.     

Value of papanicolaou smear in detection of Chlamydia trachomatis infection

This study was undertaken to assess the value of Papanicolaou smear for the diagnosis of Chlamydia trachomatis infection. The study was both retrospective (groups I and II) and prospective (group III). Group I consisted of 41 smears with cytomorphological changes proposed by Gupta, Kiviat, or Shiina. Group II was a control group, consisting of 30 cytologically normal smears. All these smears were subjected to specific immunofluorescent (IF) staining under identical conditions to confirm the diagnosis. In group III, 40 consecutive duplicate cervical smears were collected from patients attending the Sexually Transmitted Disease Clinic. One smear was routinely examined, and the specific IF staining was done on the other smear. The results in all the three groups were analysed. It was concluded that Papanicolaou smear is not useful in the detection of Chlamydia trachomatis infection.     

Association of IL4 gene polymorphisms with asthma in North Indians

BACKGROUND: Asthma is a complex airway disorder, and a number of genetic loci have been found to be associated with asthma. The 5q31-33 region is one of the most important loci linked to asthma and atopic disorders. However, association studies with candidate genes in this region, such as IL4, were inconclusive, as both positive and negative results were obtained in several populations studied. The aim of our case-control study was to determine the association between IL4 and asthma in North Indians. PATIENTS AND METHODS: Polymorphisms in the promoter and a dinucleotide repeat in the 2nd intron in IL4 were genotyped by sequencing and GeneScan analysis, respectively, in ethnically matched, unrelated patients (n = 171) and controls (n = 128), following the guidelines of the American Thoracic Society. RESULTS: The proximal promoter region of the IL4 gene was found to be invariant. Previously reported polymorphisms, -590 C/T and +33 C/T, were found to be absent in our population. The chi2 test using only large expected cell counts (more than 5% of the sample size) showed a significant association between allele size and disease status (chi2 = 38.08, d.f. = 6, p < 0.05). In addition, a significant difference was observed for the allele and genotype frequencies (p < 0.0005 and p = 0.0009, respectively) in the patient and the control groups using the Fisher-Freeman-Halton test. CONCLUSION: Our studies indicate that the promoter of the IL4 gene is invariant in our population. The case-control studies on the CA repeat polymorphism in the 2nd intron of the IL4 gene have shown interesting results and indicate the need for further family-based studies.     

Mortality trends in falciparum malaria--effect of gender difference and pregnancy

Falciparum malaria in pregnancy is a significant health problem in India. Pregnant women constitute an important high risk group for malaria infection which may cause abortions, stillbirths, intra-uterine growth retardation (IUGR) and premature labour. In this hospital based study on 602 admitted patients of falciparum malaria which included 314 males, 243 non-pregnant females and 45 pregnant females, there was significantly increased mortality rate in females (18.4%) in comparison to males (7.64%, p < 0.001). The mortality rate was highly significant in pregnant females (37.77%) in comparison to non-pregnant females (14.81%) and males (7.64%; p < 0.001). Severe anaemia with Hb < 5 gm% was observed more commonly in pregnant patients (20.0%) in comparison to non-pregnant patients (4.11%). Incidence of malaria infection was more in primi gravida and second gravida. Pregnancy related complications in the form of preterm live births, intra-uterine death (IUD), still births and abortions were more in primi parous than multiparous patients. As the pregnancy is associated with increased incidence and adverse outcome of P.falciparum malaria infection, chemoprophylaxis should be made an integral part of antenatal care along with antianaemia therapy to reduce the risk of serious maternal and fetal complications.     

A murine model of bone marrow micrometastasis in breast cancer

Bone marrow (BM) is one of the most common sites and often the first clinical indication of metastatic progression of breast cancer. Multivariate analyses have shown that the presence of cytokeratin positive tumor cells in the marrow of women with newly diagnosed stage I, II or III breast cancer is an independent predictor of survival. The objective of this study was to develop an orthotopic model of spontaneous BM metastasis to facilitate studies of this process. A murine mammary adenocarcinoma cell line, Clone 66, was transduced with the neomycin resistance gene (Cl66^neo) and injected orthotopically into female Balb/c mice. Polymerase chain reaction (PCR) for the neo gene performed on BM cells harvested from tumor bearing mice demonstrated as few as 10² injected tumor cells produced BM micrometastases at 4 weeks post-injection. Small foci of tumor cells were identified in the mammary fatpad (mfp) without gross evidence of primary tumors. Higher doses of tumor cells produced BM micrometastases, detectable by PCR, at one week post-injection. Constructs containing green fluorescent protein (GFP) and the neomycin resistance gene (neo) were also transduced into Clone 66 cells (Cl66-GFP^neo) and injected into the mfp. GFP transduced tumor cells were identified in multiple tissues in addition to BM by flow cytometric analysis (FACS) but less 13% of the animals developed gross metastases. This model is a clinically relevant tool for the analysis of organ specificity of metastasis. This revised version was published online in July 2006 with corrections to the Cover Date.