Polymorphism profiling of nine high altitude relevant candidate gene loci in acclimatized sojourners and adapted natives.

BACKGROUND: Sea level sojourners, on ascent to high altitude, undergo acclimatization through integrated physiological processes for defending the body against oxygen deprivation while the high altitude natives (resident population) are adapted to the prevailing hypobaric hypoxic condition through natural selection. Separating the acclimatization processes from adaptive changes and identifying genetic markers in lowlanders that may be beneficial for offsetting the high altitude hypoxic stress, although challenging, is worth investigating. We genotyped nine candidate gene polymorphisms, suggested to be relevant in high altitude environment, in sea level acclimatized sojourners and adapted natives for understanding differences/commonality between the acclimatized and the adapted cohorts at the genetic level. RESULTS: Statistically similar genotypic and allelic frequencies were observed between the sea level sojourners (acclimatized) and the high altitude natives (adapted) in six loci viz., EDN1 (endothelin 1) -3A/-4A VNTR, ADRB2 (beta-2 adrenergic receptor, surface) Arg16Gly (rs1042713:A > G), ADRB3 (beta-3 adrenergic receptor) Trp64Arg (rs4994:T > C), eNOS (nitric oxide synthase, endothelial) Glu298Asp (rs1799983:T > G), TH (tyrosine hydroxylase) Val81Met (rs6356:G > A) and VEGF (vascular endothelial growth factor) 963C > T (rs3025039:C > T) while SCNN1B (amiloride-sensitive sodium channel, subunit beta) Thr594Met (rs1799979:C > T) was monomorphic. Genotypic and allelic frequencies in EDN1 9465G > A (rs2071942:G > A) and ADRB2 Gln27Glu (rs1042714:G > C) were significantly different between the acclimatized sojourners and the high altitude natives with higher frequency of GG and GA genotypes of EDN1 rs2071942 and CC genotype of ADRB2 rs1042714 being observed in Ladakh natives. Mutated A allele (AA genotype) of rs2071942 and carriers of G allele (GG + GC genotypes) of rs1042714 were less favorable during acclimatization under recessive and dominant genetic models of inheritance respectively indicating thereby that GG genotype and G allele of EDN1 rs2071942 and CC genotype of ADRB2 rs1042714 conferred acclimatization benefit. CONCLUSION: Sea level acclimatized individuals shared similarity with the adapted natives in certain high altitude relevant genetically based trait variation suggesting advantageous consequence as well as commonality in gene regulatory pathways in which these gene products function both during process of acclimatization and adaptation in high altitude environment.

Evaluation of awareness regarding pictorial warning on tobacco packets and its effect on cessation among tobacco users in Lucknow.

Introduction: Tobacco use has been identified as the leading cause of the preventable death worldwide and estimates that it currently causes 5.4 million deaths/year. In fact, India is suffering a phase of tobacco epidemic. Aim: The aim of the study was to evaluate the awareness regarding pictorial warning on tobacco packets and its effect on cessation among tobacco users. Materials and Methods: A study was conducted among 200 patients having tobacco habit, attending the outpatient department of Public Health Dentistry, KGMU, Lucknow. A self-structured questionnaire was made in English and Hindi language, pertaining to demographic details, type of tobacco products used, frequency, duration of tobacco habits, and awareness regarding pictorial warning. Results: Use of multiple tobacco habits was most prevalent 61 (30.5%) across all age groups, majority 185 (92.5%) of subjects had seen the tobacco warnings, and 113 (56.5%) participants had seen both types of warning (pictorial and written warning). One hundred and ten (55%) of subjects said that warning should be on both sides. Eighty-two (41%) study participants had never tried to quit tobacco habits, 43 (21.5%) of participants tried to quit tobacco habits because of peer pressure and 75 (37.5%) subjects said that after seeing a warning on tobacco packets, they will think to quit tobacco habit. Conclusion: Majority of study participants have observed the warnings on tobacco packets and most of them believe that they could recognize and understand warnings. The study participants believe that warnings on tobacco packets create alertness about various deleterious effects of all tobacco habits and help in dropping or give up these habits. Pictographic warnings were more effective than text warnings.

Whole genome variant analysis in three ethnically diverse Indians.

India represents an amazing confluence of geographically, linguistically and socially disparate ethnic populations (Indian Genome Variation Consortium, J Genet 87:3-20, 2008). Understanding the genetic diversity of Indian population remains a daunting task. In this paper we present detailed analysis of genomic variations (high-depth coverage (~ 30×) using Illumina Hiseq 2000 platform) from three healthy Indian male individuals each belonging to three geographically delineated regions and linguistic phylum viz. high altitude region of Ladakh (Tibeto-Burman linguistic phylum), sub mountainous region of Kumaun (Indo-European linguistic phylum) and sea level region of Telangana (Dravidian linguistic phylum) for probing the extent of genetic diversity in our population. The sequencing analysis provided high quality data (~ 95% of the total reads aligned to the human reference genome for each sample) and very good alignment quality (> 80% of the filtered mapped reads had a quality score of 60). A total of 4.3, 3.7 and 4.3 million single nucleotide variations were identified in the genome of high altitude, sub mountainous and sea level respectively by comparing with human reference genome. Approximately 17.3, 18.2, 17.4% of the variants were unique in the three genomes. The study identified many novel variations in the three diverse genomes (132,970 in Ladakh, 112,317 in Kumaun and 128,881 in Telangana individual) and is an important resource for creating a baseline and a comprehensive catalogue of human genomic variation across the Indian as well as the Asian continent.

Polygenic study of endurance-associated genetic markers ACE I/D, ACTN3 Arg(R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T) in male Gorkha soldiers.

BACKGROUND: Gorkhas, a sub-mountainous population of the Himalayan region, are known for strength and bravery. In the present study when "Gorkha" is used without brackets, we are mentioning Gorkhas of Tibeto-Burman origin. Physical capability, strength and endurance are important components of fitness associated with genetic traits. The aim of this study was to examine the endurance potential of male Gorkha soldiers, based on endurance-related genetic markers ACE I/D, ACTN3 Arg (R)577Ter(X), CKMM A/G NcoI and eNOS Glu(G)298Asp(T). METHODS: Genotypic and allelic frequencies were determined in 374 male Gorkha soldiers (Tibeto-Burman). These frequencies were compared with frequencies obtained from Gorkha (Indo-Aryan), high-altitude natives (Tibeto-Burman) and Indian lowlanders (Indo-Aryan). "Total genotype score" (TGS) was calculated from accumulated combination of polymorphisms with maximum value "100" for theoretically "optimal" polygenic score. Probability of occurrence of "optimal" endurance profile was also determined. RESULTS: ACE II genotypic frequency was highest in Tamangs followed by Gurungs, Rais, Limbus and Magars. No statistical difference in genotypic and allelic frequency of ACTN3 Arg(R)577Ter(X) was noted within the groups. Rais showed the highest CKMM A allele frequency (0.908) compared to other Gorkha (Tibeto-Burman) groups. Limbus and Tamangs showed the highest eNOS G allele frequency (0.938 and 0.915, respectively) compared to that of other groups. Probability of male Gorkha soldiers possessing a theoretically optimal polygenic endurance profile for four candidate polymorphisms was ~3.35% (1 in 30). Four percent of the population of male Gorkha soldiers (15 in 374) exhibited an optimal TGS 100, and 16% exhibited TGS 87 for endurance compared to male Indian soldiers belonging to the lowland (Indo-Aryan) and Gorkha (Indo-Aryan) populations suggesting an overall more "favourable" polygenic profile in the male Gorkha soldier (Tibeto-Burman) population. CONCLUSIONS: This study presents evidence of higher frequency of endurance-associated genes in the Gorkhas implying thereby that such genetically endowed individuals from the population may be selected and trained for achieving excellence in endurance-related elite sports activities.

Antimicrobial Efficacy of Contemporary Obturating Materials used in Primary Teeth- An In-vitro Study.

INTRODUCTION: Preservation of primary tooth with non-vital pulp has been a major problem for pediatric dentist. In such cases, the preferred treatment modality is pulpectomy. The objective of pulpectomy is complete removal of necrotic and irreversibly infected pulp of an affected tooth but, in spite of chemomechanical preparation and copious irrigation of canal, there are chances of failure of pulp therapy due to the entrapped micro organisms in the canal space owing to the tortuous and complex nature of the root canal system and change in their morphology with root resorption. Thus, for optimal success of endodontic treatment, obturating material with antimicrobial properties is advocated in deciduous teeth. AIM: The aim of the study was to assess the antimicrobial efficacy of different obturating materials used in pediatric dentistry. MATERIALS AND METHODS: In the present study, antimicrobial efficacy of endoflas, Zinc Oxide Eugenol (ZOE), calcium hydroxide with chlorhexidine, calcium hydroxide with iodoform and distilled water, metapex and saline as control were assessed and compared with each other. The antimicrobial efficacy of obturating materials was evaluated against E. faecalis (ATCC 29212) by agar diffusion method. The statistical analysis was done using SPSS Version 15.0. The Analysis of Variance (ANOVA) and Post-Hoc Tests (Tukey-HSD) were performed to reveal the statistical significance. RESULTS: Intergroup comparison at 24 hours (Tukey's test) revealed significant difference amongst all the groups. Endoflas had significantly higher zone of inhibition as compared to all the other groups except group treated with ZOE (p-value <0.001). CONCLUSION: The antimicrobial activity of obturating materials according to results obtained from the present study can be summarized as follows: Endoflas > ZOE >Calcium hydroxide + Chlorhexidine > Calcium hydroxide + Iodoform +Distilled water ~ Metapex > Saline.

Genetic Diversity in Gorkhas: an Autosomal STR Study.

Genotyping of highly polymorphic autosomal short tandem repeat (STR) markers is a potent tool for elucidating genetic diversity. In the present study, fifteen autosomal STR markers were analyzed in unrelated healthy male Gorkha individuals (n = 98) serving in the Indian Army by using AmpFlSTR Identifiler Plus PCR Amplification Kit. In total, 138 alleles were observed with corresponding allele frequencies ranging from 0.005 to 0.469. The studied loci were in Hardy-Weinberg Equilibrium (HWE). Heterozygosity ranged from 0.602 to 0.867. The most polymorphic locus was Fibrinogen Alpha (FGA) chain which was also the most discriminating locus as expected. Neighbor Joining (NJ) tree and principal component analysis (PCA) plot clustered the Gorkhas with those of Nepal and other Tibeto-Burman population while lowlander Indian population formed separate cluster substantiating the closeness of the Gorkhas with the Tibeto-Burman linguistic phyla. Furthermore, the dataset of STR markers obtained in the study presents a valuable information source of STR DNA profiles from personnel for usage in disaster victim identification in military exigencies and adds to the Indian database of military soldiers and military hospital repository.

The Influence of Insulin Dependent Diabetes Mellitus on Dental Caries and Salivary Flow.

Objective. To assess whether or not there was any change in the dental caries and rate of salivary flow of patients with Insulin Dependent Diabetes Mellitus (IDDM) and the contribution of salivary flow to caries risk in IDDM. Setting. Department of Endocrinology, MS Ramaiah Hospital, Bangalore, India. Design. A comparative cross-sectional descriptive type. Materials and Methods. The sample consisted of two groups: 140 diabetic group (mean age 14.8 yr) and 140 nondiabetic group (mean age 13.7 yr). Dental caries by dmf(t) and dmf(s) indices for primary dentition and DMF(T) and DMF(S) indices was used in permanent dentition to assess the dental caries experience. Both stimulated and unstimulated salivary flow rate were assessed after collection of saliva. Results. In diabetic group 76% had carious lesion and in nondiabetic group 85.3% had carious lesion. Diabetics have lower mean DMFT, DMFS, dmft, and dmfs compared to the nondiabetic group. Diminished unstimulated and stimulated salivary flow rate in diabetic than nondiabetic group. Conclusions. The findings obtained conclude that even though there was reduced salivary flow rate in diabetic group the caries prevalence was low.

Oral submucous fibrosis at pediatric age, now time to think: Series of two cases.

The younger generation is consuming areca nut and areca nut products, which is coming in the market with different multicolored attractive pouches and easily available in each and every corner of the road. For the children from the lower socioeconomic strata, areca nut use is rampant. Alarmingly, it has been seen that the highest period of risk for engaging in areca nut alone is between the ages of 5 and 12. Oral submucous fibrosis associated with areca nut in children is a great concern for the Society and the Government. Factors associated with this report for consuming areca nut are levels of awareness, household environment, peer pressure, low cost, easy availability etc.

Non-syndromic multiple supernumerary teeth: report of a case with 13 supplemental teeth.

The presence of supernumerary teeth (STs) may give rise to a variety of clinical problems. These include failure of a tooth to erupt, delayed eruption, ectopic eruption, diastema, rotation of adjacent teeth, displacement of teeth and crowding. This case describes a 14-year-old male patient who presented with the complaint of pain in the left mandibular posterior region. Intraoral examination revealed the presence of carious retained deciduous second molar in this region. An orthopantomogram was advised which 'initially' revealed 11 STs, positioned in all four quadrants in posterior regions. Two more STs were detected in the following investigations totalling 13. Dental literature rarely reports presence of STs in such a large number. The objective of this case is to report detection of STs, radiographic examination, extraction of the retained deciduous molars and STs in the mandible to facilitate eruption of mandibular premolars.

Pharmacological attribute of Aloe vera: Revalidation through experimental and clinical studies.

Aloe vera has long been used as a traditional medicine for inducing wound healing. It is a natural product that now a days is used in cosmetic industry. Benefits associated with Aloe vera have been attributed to the polysaccharides contained in the gel of the leaves though there are various indications for its use. Biological activities include promotion of wound healing, antifungal activity, anti-inflammatory, anticancer and immunomodulatory. Gingival fibroblasts play an important role in oral wound healing. Double blind-controlled trials are needed to determine its real efficacy in oral health.

An epidemiological study of temporomandibular joint ankylosis.

INTRODUCTION: The temporomandibular joint (TMJ) forms the very cornerstone of craniofacial integrity and its ankylosis in a growing child may cause problems in daily food intake, speech, appearance, and oral hygiene is affected to a major extent. It is one of the common acquired pathologies afflicting the skeleton. It is also the most overlooked and under-managed problem in children. MATERIALS AND METHODS: A house to house survey was conducted between 2010 and 2011 in rural and urban areas of Lucknow. A total of 21,720 children aged between 3-15 years from 9090 houses comprising a representative sample were included. RESULTS: Ten TMJ ankylosis cases were identified in 21,720 children. Of these, six were bilateral and four were unilateral. Male to female ratio was 1:9, with most patients (70.0%) being in the 10-15 years' age group (mean age was 11.1 years ± 3.34). The most common cause of ankylosis was trauma for 90.0% of cases. The majority of patients (70%) were reporting the condition for the first time, with 30% patients having had previous treatment. CONCLUSION: TMJ ankylosis is an acquired condition in most of the cases. Birth/childhood trauma would be the major causative factor. Knowledge amongst parents, providers of health about this entity was poor. Initial management of the causative factor was poor. Mere knowledge among the general population and healthcare providers can result in primary prevention and also secondary prevention along with its successful definitive treatment.

The good-enough mentoring relationship.

OBJECTIVE: This study aimed to describe the state of mentoring in today's academic environment. METHODS: Resident focus groups from across the nation discussed their opinions about mentoring and experiences with mentoring, and individual faculty members were videotaped discussing the same. RESULTS: Sixty-six residents and five faculty members participated in the project. There was consensus among residents and faculty regarding important qualities of a mentoring relationship, obstacles to forming a mentorship, and methods to improve the mentorship experience in psychiatric training. CONCLUSION: Mentoring is still believed to be a vital component of a successful residency experience. Specific components that warrant further research include boundaries within the relationship, ethnicity and gender factors, and potential need for resident and faculty curricula on the topic of mentoring.