A brief summary of human molecular genetic techniques for clinical psychiatrists

Concerted and systematic efforts to understand genetics of human health and disease over the preceding 60 odd years have witnessed remarkable progress. The incremental gains through this journey were enabled by chromosomal analysis, recombinant deoxyribonucleic acid (DNA) techniques, notable discovery of single nucleotide polymorphisms following the Human Genome Project, consequent genome-wide variant-based studies, and now whole genome sequencing with ultimate diagnostic potential. Of note, success in prediction and prevention of chromosomal and single gene disorders comprising ~six to eight per cent each of all genetic disorders have been unprecedented but uncovering genetics of common complex disorders conferring ~60% of the genetic disease burden continues to pose a challenge and await new analytical paradigms - a mix of reductionist and organismal biology together with artificial intelligence and machine learning approaches being the current trend. A brief account of this path of progress in medical genetics and genomic insights along with limitations, to achieve the overarching goals of predictive, preventive, personalised, and participatory medicine is presented in this article.

Spinal anesthesia during cesarean section and persisting low back pain: a cross sectional study in West Bengal, India

Background: Spinal anesthesia related spinal injury can be a major issue in elevating back pain. Several evidences have established this process as a significant contributor of back pain; though contradictions are also present. This study aims to focus on the consequences of back pain associated with the effects of spinal anesthesia that have been received before several years. Methodology: 48 housewives are included in this study (20 subjects for vaginal delivery and 28 subjects for spinal anaesthesia induced cesarean section) based on convenient sampling method through assessing their socio-economic status and other attributing criteria. Pain detect tool was used to track back pain status and a semi structure questionnaire was used to explore other considerations. Results: Results have shown significant differences in pain responses after receiving spinal anesthesia (exposed group) than control group. Subjects have reflected significant differences in their pain perception scores. Conclusion: This study concludes that subjects have shown significant higher pain perception levels after receiving spinal anesthesia compared to general anesthesia. Decision of Cesarean section delivery should include patient’s previous pain conditions and current need. Acute care in post surgical pain should be immediately addressed even after several months of the surgery.

Comparison of polyhedrin partial sequence of NPV variants pathogenic to tea pests (Geometridae) in India and their phylogeny

Aim: The present study was undertaken to understand the phylogenetic relationships of NPVs (Nucleopolyhedroviruses) isolated from two pest species, Hyposidra talaca and Biston (=Buzura) suppressaria. The phylogenetic analyses based on the polyhedrin gene were assessed. Methodology: Occlusion bodies (OBs) were isolated separately from NPV infected dead Hyposidra talaca and Buzura suppressaria larvae, and DNA was isolated from OBs. The polyhedrin gene was amplified and sequenced followed by sequence divergence and phylogenetic analyses using MEGA5. Results: The phylogenetic analyses based on the polyhedrin gene revealed that the NPV isolated from Hyposidra talaca (HytaNPV-ITK1) formed a single cluster with the isolates of NPVs infecting Hyposidra specimens in India sharing 99% nucleotide identity, whereas the NPV isolated from Buzura suppressaria (BusuNPV-ITK1) showing 99% nucleotide homology with the NPV isolate of B. suppressaria reported from China formed a different cluster. A nucleotide identity of 85% was found between HytaNPV-ITK1 and BusuNPV-ITK1. Interpretation: Phylogenetic analyses, based on the polyhedrin sequence of 47 baculoviruses, revealed that these two variants of NPVs (HytaNPV-ITK1 and BusuNPV-ITK1) infecting Hyposidra talaca and Buzura suppressaria were comparatively closer to each other than those infecting specimens of other lepidopteran genera.

Possibilities of Developing New Formulations for Better Skin Protection from a Traditional Medicinal Plant Having Potent Practical Usage.

Aims: Natural products obtained from different types of plants have made an important impact since ancient times throughout Asia. Since wood of Hesperethusa crenulata (Roxb.) Roem has been used traditionally by women in Southeast Asia for protection against sunlight and other harmful environmental factors, present study was aimed to determine antioxidant and antimicrobial properties of water extract of H. crenulata wood. Methodology: Wood was powdered, soaked in water, macerated, extracted fluid was lyophilized and tested for antioxidant and antimicrobial properties following standard techniques. The IC50 values were calculated from regression equations prepared from concentrations of extract and inhibition percent of free radical formation. The extract was screened for antimicrobial action following international guidelines against 44 organisms. Results: In DPPH assay system IC50 value was 344.74 μg/ml, the same for superoxide scavenging assay was 326.13μg/ml, while in hydroxyl radical scavenging system it was 999.85 μg/ml. Among 32 strains of staphylococci 10 strains were inhibited at 25 -50 μg /ml level of the extract, 6 strains at 100 μg /ml, 4 at 200 μg /ml and the remaining 12 strains were resistant. Strains of Bacillus spp and Vibrio vulnificus were rather sensitive to the extract, while E. coli and Pseudomonas aeruginosa were resistant. Thus the extract was inhibitory for bacteria known to invade human skin. Conclusions: The distinctly beneficial properties of the wood of H. crenulata indicate its usefulness as a highly active agent for the protection of skin against invasion by microorganisms and free radicals including those that may come from the sunlight.

Role of Non Stress Test in Monitoring High Risk Pregnancy.

Background : Heart rate variations in fetus subjected to adverse environment provides assessment of health status. Aim : The present study is conducted to assess the efficacy of this tool in selecting high risk mother with compromised fetus at an early stage. Methods and Material : Hospital based case control study. High risk pregnancies attending hospital over a period of one year were considered for purpose of test. Normal patient were served as control. 80 high risk and 20 normal patient were considered for the study. The subjects were explained the test, need of the test, done after 28 wks. of gestation. Statistical Analysis : Sensitivity, specificity, negative predictive and positive predictive value, false positive and false negative rate were assessed. Result : Test has high sensitivity and specificity with high negative predictive value.

Evaluation of a rapid dipstick test for identifying cholera cases during the outbreak.

Background & objectives: Intermittent cholera outbreaks are major problem in many of the states of India. It is essential to identify cholera at the earliest for timely mobilization of public health responses and to abort the outbreaks. The present study was a part of a diarrhoeal outbreak investigation in Secunderabad, India, during May 2009 where the usefulness of Crystal VC rapid dipstick kit was assessed for detecting the aetiologic agent of the outbreak. Methods: Stool specimens were collected from 15 hospitalized patients with acute watery diarrhoea and analyzed for detection of cholera vibrios using Crystal VC rapid dipstick kit and the usefulness of the kit was determined by comparative analysis of the same set of specimens using both microbiological and real-time PCR (RT-PCR) based assays. Results: Detection of Vibrio cholerae O1 from 10 of 15 specimens was recorded using dipstick assay. Microbiological methods detected V. cholerae O1 positivity among 11 specimens. However, RT-PCR based assay showed all 15 specimens positive for the presence of V. cholerae O1. In addition, the same assay showed that the pathogen load in the dipstick as well as RT-PCR positive specimens ranged from 106 colony forming units (cfu)/ml or more. Interpretation & conclusions: Crystal VC kit had the potential to identify cholera cases in 10 min in field conditions without having good laboratory support. Therefore, dipstick kit may be considered as cholera detecting tool in diarrhoeal outbreak investigations. Specimens from clinically typical cholera cases, if negative by dipstick, should be reanalyzed by culture based methods.

Economic cost analysis in cancer management and its relevance today.

The global cancer burden has shown a distinct shift in the last two decades and its financial impact can be large, even among patients living in high resource countries, with comprehensive health insurance policies. It is hard to imagine its impact on patients of developing countries where insurance policies exist infrequently and often cost becomes the greatest barrier in availing cancer treatment. It is recognized that these costs include the direct cost of disease treatment and care, indirect costs accrued by the patient and the family, and economic losses to the society as a whole. Economic cost analysis or cost-effectiveness analysis has emerged as a basic tool in the evaluation of health-care practices. To date, these cost data have been collected only sporadically, even in the most developed countries, and there is a great need for incorporating economic cost assessment practices in developing countries, so that patients and their families can access the care adequately. The current review has been done using pubmed and medline search with keywords like cancer, cost-analysis, cost-effectiveness, economic burden, medical cost, etc.

Biotyping of Vibrio cholerae O1: time to redefine the scheme.

Considering the recent emergence of "hybrid biotype" and "El Tor variant", we propose to redefine the biotyping scheme for Vibrio cholerae O1 serogroup. The existing biotyping scheme has limitations and causes confusion as many of the hybrid biotype and El Tor variant strains have phenotypic and genetic changes. A revised biotyping scheme will play a significant role to understand the ecology, epidemiology and nature of infection of V. cholerae O1 strains in future.

Design of enclosure of a grinding machine for the noise attenuation.

Since most of the equipments are usually installed in rooms or enclosed plants, the effect of an enclosure is important. Absorptive surface of the enclosure can reduce levels to the extent of 5 dB(A) which is quite significant. Effectiveness of enclosures in sound varies with the frequency of sound and the shape, size, laying pattern of sound absorbing material, which is put on the walls of the enclosure. The sound absorbing material accomplishes little shielding if there is no acoustical absorption within it. Acoustical absorbents when applied to the interior surface of the enclosure adsorb some of the energy and the noise level within the enclosure builds up only by the energy not absorbed. This paper elucidates the procedure of developing an enclosure to study its performance in attenuating sound at varying conditions. The results found encouraging and such enclosures can be developed for plant machineries by the plant personnels without getting confused by the claims and rhetoric of advertisements of big companies engaged in developing such items.

Age variations in overweight men and women in rural areas of Hooghly District, West Bengal.

A cross-sectional study was conducted among a total of 598 men and women to investigate age and sex variations in the prevelence of overweight, obesity and hypertension among adult (>18 years) residents of Dearah, Hooghly District, West Bengal. Height, weight and systolic (SBP) and diastolic (DBP) blood pressure mesurements were made on each subject. Prevelence of overweight was significantly higher among women. There existed significant age-group differences among men in the frequency of overweight and obese individuals. The overall (both sexes combined) prevelence of hypertension was 25.9%. There was significant age-group difference in the prevelence of hypertension. There was a consistent trend in increasing rates of hypertension as well as mean BMI, SBP, DBP and mean arterial pressure (MAP) with increasing age.

Evaluation of endometrial changes and p53 expression in tamoxifen treated women: comparison of various methods.

OBJECTIVE: To compare transvaginal sonography (TVS), sonohysterography (SHG), hysteroscopy and endometrial aspiration (EA) and p53 expression in assessing endometrial abnormalities in women on tamoxifen. METHODS: In a cross sectional study of 50 pre- and post-menopausal women receiving tamoxifen for > 2 years, all participants underwent TVS and EA. Those with endometrial thickness > 4 mm on TVS underwent hysteroscopy and SHG. Serum p53 antibody and p53 immunohistochemistry were tested in all women. RESULTS: The sensitivity and specificity when compared with histopathology as the reference standard were as follows: TVS 100% and 33.3%, SHG 85.7% and 50%, hysteroscopy 92.8% and 80.8%, serum p53 50% and 83.3%, and p53 immunohistochemistry 57.1% and 61.1%. Prevalence of endometrial abnormalities was not significantly different in asymptomatic and symptomatic women. CONCLUSION: Tamoxifen-users require routine testing for endometrial evaluation. TVS followed by hysteroscopy and biopsy is an effective option. p53 expression correlates with histological abnormalities.

Primary involvement of penile skin in lepromatous leprosy.

Skin lesions in lepromatous leprosy (LL) are usually multiple and widespread. Though the lesion may occur anywhere on the skin, male genitalia is rarely involved. In all cases reported so far about penile lesions of LL, there were lesions on the other parts of the body also. In some of the cases scrotum was also involved. We report here a patient who presented himself with a single macular lesion of leprosy on the shaft of his penis diagnosed as a case of lepromatous leprosy on slit-skin smear and histopathological examinations.