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Abstract Background Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several thousand are endogamous, is likely to have a high burden of rare diseases. The present study provides a retrospective overview of a cohort of patients with rare genetic diseases identified at a tertiary genetic test centre in India. Results Overall, 3294 patients with 305 rare diseases were identified in the present study cohort. These were categorized into 14 disease groups based on the major organ/ organ system affected. Highest number of rare diseases (D = 149/305, 48.9%) were identified in the neuromuscular and neurodevelopmental (NMND) group followed by inborn errors of metabolism (IEM) (D = 47/305; 15.4%). Majority patients in the present cohort (N = 1992, 61%) were diagnosed under IEM group, of which Gaucher disease constituted maximum cases (N = 224, 11.2%). Under the NMND group, Duchenne muscular dystrophy (N = 291/885, 32.9%), trinucleotide repeat expansion disorders (N = 242/885; 27.3%) and spinal muscular atrophy (N = 141/885, 15.9%) were the most common. Majority cases of β-thalassemia (N = 120/149, 80.5%) and cystic fibrosis (N = 74/75, 98.7%) under the haematological and pulmonary groups were observed, respectively. Founder variants were identified for Tay-Sachs disease and mucopolysaccharidosis IVA diseases. Recurrent variants for Gaucher disease (GBA:c.1448T > C), β-thalassemia (HBB:c.92.+5G > C), non-syndromic hearing loss (GJB2:c.71G > A), albinism (TYR:c.832 C > T), congenital adrenal hyperplasia (CYP21A2:c.29–13 C > G) and progressive pseudo rheumatoid dysplasia (CCN6:c.298T > A) were observed in the present study. Conclusion The present retrospective study of rare disease patients diagnosed at a tertiary genetic test centre provides first insight into the distribution of rare genetic diseases across the country. This information will likely aid in drafting future health policies, including newborn screening programs, development of target specific panel for affordable diagnosis of rare diseases and eventually build a platform for devising novel treatment strategies for rare diseases.

Abstract Background Superior mesenteric artery (SMA) syndrome, also known as Wilkie’s syndrome, is a rare but serious complication following scoliosis correction surgery. It occurs as a result of mechanical compression of third part of duodenum between the SMA and aorta. This condition occurs most commonly in significantly underweight patients with deformities, and usually during the first week following spinal deformity corrective surgeries. The angle between the abdominal aorta and the SMA gets reduced following spinal lengthening during deformity correction surgery causing compression of third part of duodenum resulting in development of SMA syndrome. Case presentation. We present a case of 17-year-old male with congenital scoliosis with a 70-degree scoliotic curve who underwent spinal deformity correction surgery with posterior instrumented fusion. Post-operative course was uneventful and the patient was discharged after suture removal on post-operative day 15. The patient presented after 21-days of symptom onset on post-operative-day 51, with a 3 week history of post-prandial vomiting, abdominal pain and distension which resulted in rapid weight loss of 11 kg. A CT-angiogram showed obstruction at third part of duodenum. After reviewing clinical and radiological profile of the patient, a diagnosis of SMA syndrome was made. Conservative management was tried, but due to rapid deterioration of patient condition and symptoms of complete intestinal obstruction, the patient was treated surgically by gastro-jejunostomy and side-to-side jejuno-jejunostomy, which improved his condition. Conclusion SMA syndrome can occur much later than previously reported cases and with potentially life-threatening symptoms following scoliosis correction. Having a high index of suspicion, early recognition of condition and institution of appropriate treatment are essential to prevent occurrence of severe complications including risk of intestinal perforation and mortality. This case highlights management of delayed onset of SMA syndrome, with presentation further delayed after symptom onset, as is common in developing parts of the world, due to limited availability and accessibility of resources, and low socio-economic status of large segments of the population.

Abstract Background and Aim Celiac disease (CeD) is mainly reported from the northern and western parts of India. In central India, it is believed to be a disease of children, with limited data among adults diagnosed for the first time after the age of 18 years. Hence, we aimed to describe CeD's clinical and demographic features among adults and children/adolescents in central India. Methods This is a retrospective analysis of a prospectively maintained database of all patients diagnosed for CeD from 2010 to 2019. The disease in adults was confirmed when symptoms developed for the first time after 18 years and had positive anti‐transglutaminase antibodies with villous atrophy on duodenal biopsy. It was compared with pediatric patients with CeD diagnosed during the same time period. Results Of the 170 patients diagnosed with CeD, 118 were adults and 52 were children or adolescents. The mean age of presentation of adult CeD was 37.3 ± 11.93 years, while in the pediatric and adolescent group it was 9.19 ± 5.4 years. Classical presentation with chronic, painless, small‐bowel‐type diarrhea was seen in 44.1% of adults compared to 57.7% in the pediatric age group. Among the adult patients, 55.9% presented with nonclassical symptoms, which included abdominal pain (40.7%) and weight loss (36.4%). The common presenting symptom in children other than diarrhea was weight loss (50%) and abdominal pain (34.6%). Conclusion CeD is common in central India, with an increasing number of patients being diagnosed for the first time after 18 years of age and presenting more often with nonclassical symptoms.

Abstract Background Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the genetic architecture of ASD in India and to assess the use of whole exome sequencing (WES) as a first-tier test instead of chromosomal microarray (CMA) for genetic diagnosis. Methods Between 2020 and 2022, 101 patient-parent trios of Indian origin diagnosed with ASD according to the Diagnostic and Statistical Manual, 5th edition, were recruited. All probands underwent a sequential genetic testing pathway consisting of karyotyping, Fragile-X testing (in male probands only), CMA and WES. Candidate variant validation and parental segregation analysis was performed using orthogonal methods. Results Of 101 trios, no probands were identified with a gross chromosomal anomaly or Fragile-X. Three (2.9%) and 30 (29.7%) trios received a confirmed genetic diagnosis from CMA and WES, respectively. Amongst diagnosis from WES, SNVs were detected in 27 cases (90%) and CNVs in 3 cases (10%), including the 3 CNVs detected from CMA. Segregation analysis showed 66.6% (n = 3 for CNVs and n = 17 for SNVs) and 16.6% (n = 5) of the cases had de novo and recessive variants respectively, which is in concordance with the distribution of variant types and mode of inheritance observed in ASD patients of non-Hispanic white/ European ethnicity. MECP2 gene was the most recurrently mutated gene (n = 6; 20%) in the present cohort. Majority of the affected genes identified in the study cohort are involved in synaptic formation, transcription and its regulation, ubiquitination and chromatin remodeling. Conclusions Our study suggests de novo variants as a major cause of ASD in the Indian population, with Rett syndrome as the most commonly detected disorder. Furthermore, we provide evidence of a significant difference in the diagnostic yield between CMA (3%) and WES (30%) which supports the implementation of WES as a first-tier test for genetic diagnosis of ASD in India.

The importance of differential equations of integer order and fractional order can be seen in many areas of engineering and applied sciences. The present work involves fractional order heat equations that arise in numerous applications of engineering and aims to find series solutions by the Laplace variational iteration method (LVIM). The method combines the Laplace transform and the variational iteration method. To show the efficiency and validity of LVIM, we have exemplarily considered 1-D, 2-D, and 3-D fractional heat equations and solve them by LVIM. Exact solutions are gained in expressions of the Mittag-Leffler function. The results are also explored through graphs and charts.

Abstract Background Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the family of sulfatases. The affected patients present with a wide spectrum of clinical features including multi-organ involvement. To date, almost 140 cases of MSD have been reported worldwide, with only four cases reported from India. The present study describes two cases of late infantile form of MSD from India and the identification of a novel missense variant in the SUMF1 gene. Case presentation In case 1, a male child presented to us at the age of 6 years. The remarkable presenting features included ichthyosis, presence of irritability, poor social response, thinning of corpus callosum on MRI and, speech regression. Clinical suspicion of MSD was confirmed by enzyme analysis of two sulfatase enzymes followed by gene sequencing. We identified a novel missense variant c.860A > T (p.Asn287Ile) in exon 7 of the SUMF1 gene. In case 2, a two and a half years male child presented with ichthyosis, leukodystrophy and facial dysmorphism. We performed an enzyme assay for two sulfatases, which showed significantly reduced activities thereby confirming MSD diagnosis. Conclusion Overall, present study has added to the existing data on MSD from India. Based on the computational analysis, the novel variant c.860A > T identified in this study is likely to be associated with a milder phenotype and prolonged survival.

Background and Aim: Wearing white coat is a recognizable symbol among dental students. It is associated with dignity and respect. However, students are often spotted wearing white coat/apron in public places, a trait that needs to be explored/rectified. Therefore, the aim was to determine student's perception regarding the usage of white coat/aprons. Materials and Methods: A 10-item closed-ended questionnaire was distributed among clinical students of a dental institute. The questionnaire elicited their understanding of wearing white coat in hospital/college premises, reasons for wearing it after college hours/outside premises, maintenance of white apron, and their willingness to substitute with scrubs. The data were analyzed for frequency distribution. Results: About 65% wore white coat as personal protective equipment within college premises. About 40% commuted to college wearing white coat. More than 91% wore white coat outside college premises during and immediately after college hours. More than 71% kept their belongings in apron pockets. Reasons such as “To lazy to remove white coat” and “For a different feeling” were common responses for wearing white coat outside premises. Eleven percent cited “ease of clothing” as another reason. Majority of study participants preferred white coat over scrubs during college hours. Conclusion: The study provides insight of students understanding of white coat. There is a clear lack of awareness regarding when, where, and how to use a white coat. Institutions have an important role in promoting and disseminating the importance of using white coat. In addition, there is a need for standard white coat handling and maintenance policy to be drafted and implemented.

Abstract Introduction NEUROG1 gene is yet to be associated with a set of human phenotypes in the OMIM database. Three cases have previously been diagnosed with cranial dysinnervation due to biallelic variants in the NEUROG1 gene. This is the fourth and a novel report of a sibling pair harboring a homozygous variant in the NEUROG1 gene with autism as an additional phenotype. A brief review of the literature in conjunction with a genotype–phenotype correlation has been described. A potential hypothesis for the presence of the autistic phenotype in the present case has also been elucidated. Case presentation A female aged 6 years and 9 months born to endogamous and phenotypically healthy parents was diagnosed with global developmental delay, autism spectrum disorder, hearing loss, corneal opacity and no eye blinking. Her MRI of the brain revealed mild peritrigonal white matter hyperintensity, and MRI and CT scan of the temporal bones showed abnormal cranial nerves. The proband’s younger sister, aged 4-years, was similarly affected. Whole exome sequencing was performed in the proband, which revealed a novel homozygous, likely pathogenic, truncating frameshift variant, c.228_231dup (p.Thr78ProfsTer122) in exon 1 of the NEUROG1 gene (ENST00000314744.4). Segregation analysis by Sanger sequencing showed the proband and her younger sister to be homozygotes and their parents to be heterozygous carriers. Conclusion This is the fourth report across the globe with a variant identified in the NEUROG1 gene to be associated with cranial dysinnervation phenotype. An additional phenotype of autism in two female siblings was a novel observation. We provide a hypothetical framework which could explain the pleiotropic effect of a dysfunctional NEUROG1 protein leading to autism and posit it as a candidate for diagnosis of autism spectrum disorder with congenital cranial dysinnervation disorder.

Abstract Sambit K. Mohanty Objective Repressor of Silencing (ROS1) gene rearrangement in the lung adenocarcinomas is one of the targetable mutually exclusive genomic alteration. Fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), next-generation sequencing, and reverse transcriptase polymerase chain reaction assays are generally used to detect ROS1 gene alterations. We evaluated the correlation between ROS1 IHC and FISH analysis considering FISH as the gold standard method to determine the utility of IHC as a screening method for lung adenocarcinoma. Materials and Methods A total of 374 advanced pulmonary adenocarcinoma patients were analyzed for ROS1 IHC on Ventana Benchmark XT platform using D4D6 rabbit monoclonal antibody. FISH assay was performed in parallel in all these cases using the Vysis ROS1 Break Apart FISH probe. Statistical Analysis The sensitivity, specificity, positive and negative likelihood ratios, positive and negative predictive values, and accuracy were evaluated. Results A total of 17 tumors were positive either by IHC or FISH analysis or both (true positive). Four tumors were positive by IHC (H-score range: 120–270), while negative on FISH analysis (false positive by IHC). One tumor was IHC negative, but positive by FISH analysis (false negative). The sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, positive predictive value, negative predictive value, and accuracy were 94.4% (confidence interval [CI]: 72.71–99.86%), 63.6% (CI: 30.79–89.07%), 2.6 (CI: 1.18–5.72), 0.09 (CI: 0.01–0.62), 80.95% (CI: 65.86–90.35%), 87.5% (CI: 49.74–98.02%), and 82.76%, respectively. Conclusion ROS1 IHC has high sensitivity at a cost of lower specificity for the detection of ROS1 gene rearrangement. All IHC positive cases should undergo a confirmatory FISH test as this testing algorithm stands as a reliable and economic tool to screen ROS1 rearrangement in lung adenocarcinomas.

Abstract Background Rett syndrome (RTT) is characterized by a normal perinatal period with a normal head size at birth followed by normal development for the first 6 months of life followed by gradual deceleration of head growth, loss of acquired purposeful hand skills, severe expressive and receptive language impairment, severe intellectual disability and gait and truncal apraxia/ ataxia. It is caused due to mutations in the MECP2 gene and follows an X-linked dominant mode of inheritance. It was observed exclusively in females and was believed to be lethal in males. In contrast to this belief, several males were identified with RTT upon genetic analysis, however, most males expired by the age of 2 years due to neonatal encephalopathy. The ones that survived beyond the age of 2 years, were attributed to the presence of an extra X chromosome (co-occurrence of Klinefelter and RTT) or the ones having mosaic cell lines. Only 11 males with somatic mosaicism are known till date. Case presentation This case reports an ultra-rare case of a male affected with RTT surviving beyond the age of 2 years due to post-zygotic de novo somatic mosaicism. He was identified with a known pathogenic variant c.538C > T (p.R180*), which to the best of our knowledge is exclusively seen in females and has never been reported in a male before. Conclusion The present case is the first report of a mosaic male affected with RTT from India. The present report also carried out genotype-phenotype correlations across surviving mosaic males with RTT. We also postulate the effect of variant type, position along the gene and the variant allele fraction in different tissue types to be correlated with disease severity.

Coronavirus disease has caused seven million infections worldwide, of which, 3.1 million individuals have recovered. Though, most individuals develop antibodies, whether these antibodies result in clinical improvement/immunity from future infection is not known. It is also not known about durability of antibodies against severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). No human re-infection with SARS-CoV-2 has been confirmed to date, although a few case reports have mentioned patients who have tested positive again after recovery from the initial illness. Whether these cases represent a state of carrier or re-infection or reactivation, is not known. Nevertheless, the possibility of re-infection remains a matter of concern and yet another question about SARS-CoV-2 which is still unanswered.

Abstract Background A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. Case presentation A 7-year-old female was referred for diagnosis due to gross facial dysmorphism and severe developmental delay. She presented with dysmorphic features, hypo/hyper pigmentation of the skin, intellectual disability and craniosynostosis. G-banding chromosome analysis suggested mos 46,XX,psu idic(18)(p11.2)[25]/46,XX,r(?18)[30]. Additional analysis by molecular karyotyping suggested pure partial deletion of 15 Mb on 18p (18p11.32p11.21). Lastly, multiple rearrangements and detection of a third cell line (ring chr18 and interstitial deletion) of chr18 was observed by multi-color banding. Conclusion The current study presents a novel case of chromosomal abnormalities pertaining to chromosome 18 across 3 cell lines, which were delineated with a combinatorial approach of diagnostic methods.

End-stage renal disease (ESRD) patients have a higher prevalence of diabetes mellitus, hypertension, congestive heart failure and advanced age, along with an increased incidence of non-valvular atrial fibrillation (AF), thereby increasing the risk for cerebrovascular accidents. Systemic anticoagulation is therefore recommended in patients with ESRD with AF to reduce the risk and complications from thromboembolism. Paradoxically, these patients are at an increased risk of bleeding due to great degree of platelet dysfunction and impaired interaction between platelet and endothelium. Currently, CHA2DS2-VASc and Hypertension, Abnormal liver/kidney function, Stroke, Bleeding, Labile INR, Elderly, Drugs or alcohol (HAS-BLED) are the recommended models for stroke risk stratification and bleeding risk assessment in patients with AF. There is conflicting data regarding benefits and risks of medications such as antiplatelet agents, warfarin and direct oral anticoagulants in ESRD patients with AF. Moreover, there is no randomized controlled trial data to guide the clinical decision making. Hence, a multi-disciplinary approach with annual re-evaluation of treatment goals and risk-benefit assessment has been recommended. In this article, we review the current recommendations with risks and benefits of anticoagulation in patients with ESRD with AF.

Introduction: Normative comprehensive echocardiographic measurements data for healthy Indians are not available while data for American and European population is available from American Society of echocardiography and European Society of Cardiology/European Association of Cardio-Vascular Imaging and their publications. Available studies of Indian subjects are small and report only limited measurements with focus on left ventricular (LV) volumes. Objective: We aim to provide comprehensive normative echocardiographic data for healthy Indians from a large sample size. Methods: A retrospective cross-sectional single-center study of 707 healthy Indian adults age and sex segregated which presented detailed and comprehensive echocardiographic measurements including two-dimensional, M-mode, tissue Doppler imaging, speckle tracking echocardiography, chamber volumes, LV ejection fraction (LVEF), global longitudinal strain (GLS), segmental longitudinal strain and effort tolerance. Results: Our findings show healthy Indians, as compared to US and European population, to have higher relative wall thickness. LV volumes, LV mass, LVEF and effort tolerance that were within American Society of Echocardiography described ranges for chamber quantification. Higher GLS values were observed in Indian population compared to European and American population. Women had higher LVEF and GLS values as compared to men and both showed a gradual decline with aging. Conclusion: We present normal reference values for echocardiographic measurements in healthy Indian population, which could be used for future reference and comparison work. Keywords: Echocardiography normative data, Global longitudinal strain, LV ejection fraction, Effort tolerance, Indian adults

Avulsion of tooth is complete displacement of tooth out of its socket that results in mutilation of periodontal ligaments. The desirable treatment option is replantation of the tooth. However, unsuccessful replantation is a matter of great discontentment. Unsuccessful replantation is due to inappropriate management of the avulsed tooth. Protection of teeth from desiccation due to drying of the periodontal ligament tissue, by keeping it in storage media can improve the outcome of the treatment. This review paper focuses on the use of natural products as storage media for avulsed teeth. In vitro and in vivo research published during 1995-2014, allowing open access on National Center for Biotechnology Information (NCBI) database and articles on EBSCO host (EBSCO-Elton B. Stephens Company) were included. It was found that natural products such as milk, coconut water, propolis, green tea, red mulberry, Aloe vera, egg-white and pomegranate have shown ability to maintain viability of periodontal ligament cells of avulsed teeth. Few natural products such as coconut water and milk can be used in raw form, while other products such as green tea and red mulberry need processing. Ability to maintain periodontal cell viability for a longer time is warranted in cases of major accidents, where teeth can be replanted only after other major surgeries. Natural products have easy availability, greater efficacy and longer storage time as compared to Hank′s balanced salt solution which has been recommended by the International Association of Dental Traumatology as standard solution for storage of avulsed teeth. Natural products have shown good qualities in in vitro experiments; further in vivo studies are needed to evaluate their efficacy as storage media.

Interest in nephrology careers among internal medicine residents in the United States is declining. Our objective was to assess the impact of the presence of a nephrology fellowship training program on perceptions and career interest in nephrology among internal medicine residents. A secondary objective was to identify commonly endorsed negative perceptions of nephrology among internal medicine residents.This was a repeated cross-sectional survey of internal medicine residents before (Group 1) and 3 years after (Group 2) the establishment of nephrology fellowship programs at two institutions. The primary outcome was the percentage of residents indicating nephrology as a career interest in Group 1 vs. Group 2. Secondary outcomes included the frequency that residents agreed with negative statements about nephrology.131 (80.9%) of 162 residents completed the survey. 19 (14.8%) residents indicated interest in a nephrology career, with 8 (6.3%) indicating nephrology as their first choice. There was no difference in career interest in nephrology between residents who were exposed to nephrology fellows during residency training (Group 2) and residents who were not (Group 1). The most commonly endorsed negative perceptions of nephrology were: nephrology fellows have long hours/burdensome call (36 [28.1%] of residents agreed or strongly agreed), practicing nephrologists must take frequent/difficult call (35 [27.6%] agreed or strongly agreed), and nephrology has few opportunities for procedures (35 [27.3%] agreed or strongly agreed). More residents in Group 2 agreed that nephrology is poorly paid (8.9% in Group 1 vs. 20.8% in Group 2, P = 0.04), whereas more residents in Group 1 agreed that nephrologists must take frequent/difficult call (40.0% in Group 1 vs. 18.1% in Group 2, P = 0.02).The initiation of a nephrology fellowship program was not associated with an increase in internal medicine residents' interest in nephrology careers. Residents endorsed several negative perceptions of nephrology, which may affect career choice.

Respiratory paramyxoviruses are important causes of morbidity and mortality, particularly of infants and the elderly. In humans, a T helper (Th)2-biased immune response to these infections is associated with increased disease severity; however, little is known about the endogenous regulators of these responses that may be manipulated to ameliorate pathology. IL-27, a cytokine that regulates Th2 responses, is produced in the lungs during parainfluenza infection, but its role in disease pathogenesis is unknown. To determine whether IL-27 limits the development of pathogenic Th2 responses during paramyxovirus infection, IL-27-deficient or control mice were infected with the murine parainfluenza virus Sendai virus (SeV). Infected IL-27-deficient mice experienced increased weight loss, more severe lung lesions, and decreased survival compared to controls. IL-27 deficiency led to increased pulmonary eosinophils, alternatively activated macrophages (AAMs), and the emergence of Th2 responses. In control mice, IL-27 induced a population of IFN-γ+/IL-10+ CD4+ T cells that was replaced by IFN-γ+/IL-17+ and IFN-γ+/IL-13+ CD4+ T cells in IL-27-deficient mice. CD4+ T cell depletion in IL-27-deficient mice attenuated weight loss and decreased AAMs. Elimination of STAT6 signaling in IL-27-deficient mice reduced Th2 responses and decreased disease severity. These data indicate that endogenous IL-27 limits pathology during parainfluenza virus infection by regulating the quality of CD4+ T cell responses and therefore may have therapeutic potential in paramyxovirus infections.

Introduction: Career is the progress and actions taken by a person throughout lifetime, especially those related to that person′s occupation and are often composed of the jobs held, titles earned and work accomplished over a long period of time. It plays a very important role in the success of once life. Aim: The aim was to compare the career satisfaction among medical and dental graduates in a private institution in Indore city, Madhya Pradesh. Materials and Methods: The study included a total of 100 medical graduates and 100 dental graduates and was carried out using a self-administered questionnaire. Chi-square test was performed for statistical analysis. Results: In medical profession, it was found that majority (87%) of the graduates were satisfied with their career. Majority (88%) of the graduates believed that their profession had a bright future 10 years from now and majority (74%) recommended joining medical profession as a safe and bright career alternative. On the contrary, in dental profession, it was found that more than half (53%) of the graduates were unsatisfied with their career. More than 50% of graduates believed that dental profession did not have a bright future 10 years from now and majority (66%) of the graduates recommended not to join dental profession. The differences were found to be significantly associated between the two groups (P < 0.05). Conclusion: The dental graduates were found to be dissatisfied with their career compared with medical graduates. Better job perspectives and better placements needs to be created. Endorsement of effective policies is required.

Introduction: Chemical substances used for prevention of dental caries are known to have many side-effects. Thus, natural products should be explored for their anticaries action. Objectives: To prepare 5% and 20% concentrations of ethanolic and water extracts of guava leaves and to assess their activity against Lactobacillus acidophilus. Materials and Methods: In vitro experimental study was conducted in Department of Biosciences. Ethanolic and water extracts of guava leaves were prepared using Soxhlet extractor. Two concentrations 5% and 20% weight/volume of both extracts were prepared. Test organism L. acidophilus Microbial Type Culture Collection 447 was obtained in lyophillized form. After revival in nutrient broth, bacteria were grown on Lactobacilli de Man, Rogosa, Sharpe agar for further experiment. Antimicrobial testing of extracts was done using Agar well-diffusion method. Ten plates each were prepared for both extracts. Chlorhexidine (0.2%) served as a positive control and distilled water as a negative control. Results: Mean zone of inhibition produced by 5% and 20% ethanolic extract was 11.2 mm and 14.1 mm respectively and by 5% and 20% water extract was 1.6 mm and 5.1 mm respectively. Statistical analysis of results using one-way ANOVA and post-hoc Tukey′s test revealed that activity of 5% ethanolic extract and 5%, 20% water extract was significantly less than that of 0.2% chlorhexidine. There was no statistical difference in efficacy of 20% ethanolic extract of guava and 0.2% chlorhexidine (P = 0.270). Conclusion: Ethanolic and water extracts of guava leaves possess antibacterial activity against L. acidophilus with 20% ethanolic extract being as efficacious as 0.2% chlorhexidine.

Objective: To estimate the dental caries experience and treatment needs of residents of slum area, in Indore.Materials and Methods: A survey was conducted in one of the largest slum areas, Panchsheel nagar of Indore, (M.P.). The sample size was estimated assuming the prevalence of dental caries to be 90% as found in the pilot study. The minimum sample required was 138. The dentition status was recorded according to the WHO guidelines. Examination was performed by the trained and calibrated examiner. The statistical analysis was performed using SPSS 16.5 software. Results: A considerably higher prevalence (76.2%) of dental caries in the residents of slum as compared to the general population of India (50-60%) was found. The mean decayed, missing and filled teeth recorded was 2.54. Statistically significant difference was found in the caries prevalence between different age groups and occupations. Males exhibited significantly higher caries experience as compared to females. Conclusion: The residents of slum have a high prevalence of dental caries. The prevalence of dental caries differed for different occupational groups and gender.

Mechanistic investigations coupled with epidemiology, case-control, cohort and observational studies have increasingly linked isocyanate exposure (both chronic and acute) with pulmonary morbidity and mortality. Though ascribed for impairment in endothelial cell function, molecular mechanisms of these significant adverse pulmonary outcomes remains poorly understood. As preliminary studies conducted in past have failed to demonstrate a cause-effect relationship between isocyanate toxicity and compromised pulmonary endothelial cell function, we hypothesized that direct exposure to isocyanate may disrupt endothelial structural lining, resulting in cellular damage. Based on this premise, we comprehensively evaluated the molecular repercussions of methyl isocyanate (MIC) exposure on human pulmonary arterial endothelial cells (HPAE-26). We examined MIC-induced mitochondrial oxidative stress, pro-inflammatory cytokine response, oxidative DNA damage response and apoptotic index. Our results demonstrate that exposure to MIC, augment mitochondrial reactive oxygen species production, depletion in antioxidant defense enzymes, elevated pro-inflammatory cytokine response and induced endothelial cell apoptosis via affecting the balance of mitochondrial-nuclear cross talk. We herein delineate the first and direct molecular cascade of isocyanate-induced pulmonary endothelial cell dysfunction. The results of our study might portray a connective link between associated respiratory morbidities with isocyanate exposure, and indeed facilitate to discern the exposure-phenotype relationship in observed deficits of pulmonary endothelial cell function. Further, understanding of inter- and intra-cellular signaling pathways involved in isocyanate-induced endothelial damage would not only aid in biomarker identification but also provide potential new avenues to target specific therapeutic interventions.

Hysterectomy is the most common surgical gynecologic procedure, which is frequently related to the treatment of leiomyoma. The laparoscopic hysterectomy is associated with a shorter hospital stay, fewer infection rates, and a faster return to daily activities. Most gynecologists do not recommend a hysterectomy via the vagina or a laparoscopic-assisted vaginal hysterectomy (LAVH) in the case of a uterus weighing more than 300 g. This case report presents the case of an LAVH undertaken in a 43-year-old patient with a uterus weighing 2,800 g. There are no definite guidelines concerning the procedure for a large uterus, and the literature is vague regarding the best surgical procedure for these cases. The size of the uterus does not seem to be an absolute contraindication for endoscopic surgery. This procedure relies entirely on the surgeon’s ability

Splenic cysts are rare lesions and only a few cases have been reported in the literature. Among splenic cysts epithelial cysts are still rarer. Symptoms can be due to enlargement, rupture, infection or hemorrhage. We report a case of a 35-year old woman who presented with left hypochondrial pain. Ultrasound and CT revealed cystic swelling arising from spleen. Cyst with spleen was removed and sent for histopathological examination which confirmed the diagnosis and ruled out the clinical diagnosis of hydatid cyst. Keywords: Cyst, Epithelial, Splenic

Bilateral hydronephrosis secondary to urinary obstruction leads to a buildup of back pressure in the urinary tract and may lead to impairment of renal function. We present a case of a 57-year-old male with a history of alcoholic liver cirrhosis, who presented with tense ascites and acute renal failure. Bilateral hydronephrosis was seen on abdominal ultrasound. Multiple large-volume paracenteses resulted in resolution of hydronephrosis and prompt improvement in renal function.

Human respiratory syncytial virus (RSV) is a major cause of severe respiratory illness in children and susceptible adults. RSV blocks the development of the innate antiviral immune response and can grow to high titers in the respiratory tract. Here we demonstrate that immunostimulatory defective viral genomes (iDVGs) that are naturally generated during RSV replication are strong inducers of the innate antiviral response to RSV in mice and humans. In mice, RSV iDVGs stimulated the expression of antiviral genes, restricted viral replication, and prevented weight loss and lung inflammation. In human cells, the antiviral response to RSV iDVGs was dominated by the expression of IFN-λ1 over IFN-β and was driven by rapid intranuclear accumulation of the transcription factor IRF1. RSV iDVGs were detected in respiratory secretions of hospitalized patients, and their amount positively correlated with the level of expression of antiviral genes in the samples. Infection of explanted human lung tissue from different donors revealed that most humans can respond to RSV iDVGs and that the rate of accumulation of iDVGs during infection directly correlates with the quality of the antiviral response. Taken together, our data establish iDVGs as primary triggers of robust antiviral responses to RSV and provide the first evidence for an important biological role for naturally occurring iDVGs during a paramyxovirus infection in humans.

Introduction: Cone beam computed tomography is a new diagnostic innovation to dental imaging. Despite the use of CBCT in oral and maxillofacial imaging, reports on its use either by individual practitioners or referral patterns to CBCT centers is lacking. Hence, a study was conducted to determine incidental findings on CBCT and reasons for referral by dental practitioners in Indore city. Materials and Methods: A retrospective analysis of 795 records that were referred for CBCT imaging at Institutional and Oracal CBCT Centre, Indore was undertaken. Referrals from both within and outside institution, as well as from private practitioners were considered. The reason for CBCT referral, provision diagnosis, final diagnosis and any incidental diagnosis were recorded. Results: This retrospective chart audit revealed that 56.7 % were male and 43.3% were females. Greatest source of patients was referred by oral surgeons (21.9%) followed by oral and maxillofacial radiologist (14.2%) and prosthodontist (9.3%). The most common reason for referral was for implant analysis (24.2%) and the most common incidental finding diagnosed by CBCT was oral malignancies. Conclusion: In Institutional set-up, CBCT referrals were mostly for the reason of planning implant placement followed by trauma whereas private practitioners used CBCT mostly for implant placement followed by impaction. CBCT was being utilized more by Oral surgeons in private sector whereas it in an Institutional setup majority of referrals from Department of Oral Diagnosis and Radiology. Findings that were most commonly diagnosed incidentally on CBCT were Orofacial malignancies followed maxillary sinus pathologies.

Introduction: The lifeline express is the world’s first hospital train. To date, over 800,000 patients living in the remote rural interiors of India where medical facilities are scarce, have been treated. Objective: To evaluate the application and feasibility of providing screening, diagnosis, preventive dental treatment for rural population through mobile dental unit in lifeline express train from last three years in Madhya Pradesh, India. Materials and Methods: The study was retrospective and the data was extracted from six dental camps which have been conducted by Life line Express/ Impact India foundation in between 2011 to 2013 in rural and remote area of Madhya Pradesh. Results: Out of six dental camps 14,081 patients were registered and 6,526 received dental treatment. The type of dental treatment like extractions (3,441), scaling (2,119) and restoration (966) were performed. Conclusion: The study shows a mobile dental hospital like LLE can provide an excellent opportunity for rural populations regarding oral health care.

Oral health status of HIV positive individuals is in poor condition which may be a sequela of variety of factors. This study was aimed at assessing and comparing the oral health status and oromucosal lesions between HIV positive and negative individuals in India. A total of 126 HIV positive and 532 HIV negative individuals were recruited for the study. Oral health status and oromucosal lesions were recorded using WHO oral health assessment form (1997). Data was analyzed using chi-square and independent sample student’s t test. Majority (85.7%) of people suffering from HIV belonged to lower socioeconomic status. The mean for DMFT score was found to be significantly higher in HIV positive individuals (12.83±9.6) as compared to HIV negative individuals (8.34±7.6) (P value 2. In conclusion HIV positive individuals have poor oral health status and poor periodontal status compared to control group. Effective policies need to be drafted to take care of the oral health of this high risk group.

Hypertriglyceridemia is the etiology of acute nonbiliary pancreatitis in up to 3% of patients. Along with the supportive treatment of acute pancreatitis, treating the precipitating cause is important as well. There have been reports where heparin and insulin have been used for acute reduction of triglycerides, although there are no established guidelines for efficacy of these modalities. Heparin and insulin decrease triglycerides by stimulating lipoprotein lipase activity, which degrades triglycerides into fatty acids and glycerol. We present a case where a 54-year-old male presented with hypertriglyceridemia-induced acute pancreatitis. The serum triglyceride level was 10,320 mg/dl (normal: 0–15 mg/dl) at the time of admission. We started the patient on intravenous insulin and heparin infusion, and within 24 h of induction of treatment, the levels decreased by 50% to 5407 mg/dl. Thus, heparin and insulin can be considered a safe treatment modality for rapidly reducing triglyceride levels.

Objective: To find out normal size and shape of yolk sac in pregnancies between 5-12 weeks of gestation, its association with pregnancy outcome and correlation of various fetal parameters with mean yolk sac diameter. Method: 95 pregnant women of 20-30 years age group with amenorrhoea 1 month 5 days to 7 days selected randomly for this study from August 2009 to October 2010, underwent TVS fortnightly from 5-11 weeks of gestation and at 12 weeks either of the TVS or TAS to visualize changes in mean yolk sac diameter (MYSD) and yolk sac (YS) shape and pregnancy outcomes. Results analyzed by Z-test and correlation coefficient found out between various parameters. Results: In Pregnancies with normal outcome (n=72), MYSD was progressively increased from 3.17 mm at 5-5.2 weeks of GA to 5.03 mm at 9-9.2 weeks of GA. At 11 weeks YS either disappeared (73.61%) or MYSD decreased (26.38%) with round & regular shape. Highly significant difference with p value

A burst in the production of pro-inflammatory molecules characterizes the beginning of the host response to infection. Cytokines, chemokines, and growth factors work in concert to control pathogen replication and activate innate and adaptive immune responses. Granulocyte colony-stimulating factor (G-CSF) mobilizes and activates hematopoietic cells from the bone marrow, and it has been shown to mediate the generation of effective immunity against bacterial and fungal infections. G-CSF is produced at high levels in the lungs during infection with influenza and parainfluenza viruses, but its role during these infections is unknown. Here we show that during infection of mice with a non-lethal dose of influenza or Sendai virus, G-CSF promotes the accumulation of activated Ly6G+ granulocytes that control the extent of the lung pro-inflammatory response. Remarkably, these G-CSF-mediated effects facilitate viral clearance and sustain mouse survival.