Patients In Indian Population Research Articles

Role of miR-128-3p and miR-195-5p as biomarkers of coronary artery disease in Indians: a pilot study

Coronary artery disease (CAD) imposes a significant economic burden in developing countries like India. Timely diagnosis and treatment should be prioritized to mitigate the disease. Current diagnostic tools being invasive and less specific raise the need to develop less invasive and more reliable molecular biomarkers. MicroRNAs (miRNAs) are an emerging class of molecules that can serve as a potential source of non-invasive biomarkers for CAD. The objective of this study was to determine the potential of circulatory miRNAs as diagnostic biomarkers in CAD. In this study, we have reported two microRNAs, miR-128-3p and miR-195-5p in the serum of CAD patients in Indian Population. A total of 124 subjects were recruited which included 89 angiographically proven CAD patients and 35 control subjects. Our results show a significant decrease in the levels of miR-128-3p in CAD patients while there were no significant changes in the levels of miR-195-5p. Further bioinformatics analysis revealed the potential role of miR-128-3p in cholesterol homeostasis. Altered homeostasis due to cholesterol accumulation in macrophages is the driving force behind formation of foam cells which in turn accelerates the progression of CAD. Here, we have shown that miR-128-3p increases cholesterol levels in macrophages by decreasing cholesterol efflux in-vitro.

Assessment of quality of life in patients with surgically treated maxillofacial fractures.

Background: The complex nature of maxillofacial injuries can affect the surgical treatment outcomes and general well-being of the patient. To evaluate the efficiency of the surgical treatment, assessment of the quality of life (QOL) of the patients is of vital importance. Due to the absence of an exclusive QOL assessment tool for maxillofacial fractures, we introduce the 'Twenty-point quality of life assessment in facial trauma patients in Indian population'. The aim of this study was to assess and evaluate the QOL following surgical management of maxillofacial trauma patients based on the severity of the injury. Methods: The study consisted of 182 subjects divided into two groups of 91 each (Group A: severe facial injury and Group B: mild to moderate facial injury). The Facial Injury Severity Scale (FISS) was used to determine the severity of facial fractures and injuries. The twenty-point quality of life assessment tool includes Zone 1 (Psychosocial impact) and Zone 2 (Functional and aesthetic impact), with ten domains each to assess QOL. Results: In Zone 1, the mean scores for Group A and Group B were 38.6 and 39.26, respectively. In Zone 2, Group B (44.56) had higher mean scores compared to Group A (32.92) (p< 0.001). Group B (83.8) had higher mean scores compared to Group A (71.58) when the total of both Zone 1 and Zone 2 were taken into consideration (p<0,001). In Group A, 9 out of 91 patients had a total score of 81- 100 compared to 68 in the same range in Group B. Conclusions: Proper surgical management with adequate care to the hard and soft tissues can improve the QOL by reducing postoperative psychosocial and functional complications. Aesthetic outcomes play an important role in determining the QOL. Mild/ Moderate injuries show better QOL compared to severe maxillofacial injuries.

Assessment of quality of life in patients with surgically treated maxillofacial fractures

Background: The complex nature of maxillofacial injuries can affect the surgical treatment outcomes and general well-being of the patient. To evaluate the efficiency of the surgical treatment, assessment of the quality of life (QOL) of the patients is of vital importance. Due to the absence of an exclusive QOL assessment tool for maxillofacial fractures, we introduce the ‘Twenty-point quality of life assessment in facial trauma patients in Indian population'. The aim of this study was to assess and evaluate the QOL following surgical management of maxillofacial trauma patients based on the severity of the injury. Methods: The study consisted of 182 subjects divided into two groups of 91 each (Group A: severe facial injury and Group B: mild to moderate facial injury). The Facial Injury Severity Scale (FISS) was used to determine the severity of facial fractures and injuries. The twenty–point quality of life assessment tool includes Zone 1 (Psychosocial impact) and Zone 2 (Functional and aesthetic impact), with ten domains each to assess QOL. Results: In Zone 1, the mean scores for Group A and Group B were 38.6 and 39.26, respectively. In Zone 2, Group B (44.56) had higher mean scores compared to Group A (32.92) (p&lt; 0.001). Group B (83.8) had higher mean scores compared to Group A (71.58) when the total of both Zone 1 and Zone 2 were taken into consideration (p&lt;0,001). In Group A, 9 out of 91 patients had a total score of 81- 100 compared to 68 in the same range in Group B. Conclusions: Proper surgical management with adequate care to the hard and soft tissues can improve the QOL by reducing postoperative psychosocial and functional complications. Aesthetic outcomes play an important role in determining the QOL. Mild/ Moderate injuries show better QOL compared to severe maxillofacial injuries.

Pattern of Food Allergen Sensitivity Amongst Adult Allergic Rhinitis Patients: A Four Year Central Indian Study.

Only limited Indian data is available regarding the food allergy pattern among allergic rhinitis patients in Indian population. This study aims to assess the pattern of food allergen sensitivity amongst allergic rhinitis patients in central India. A total of 218 subjects with allergic rhinitis were enrolled in the study (from May 2018 to August 2022). Skin prick test was done in all subjects with proper technique and precautions by using 125 common food allergens and 75 aero allergens. The test readings were noted after 20 minutes by comparing the wheals so formed with the negative control of Saline and positive control of Histamine. Any reaction with a wheal diameter of 3mm or greater was considered as positive. While test results of both food and inhalant allergens were issued to individual patients, this study was restricted to detection and analysis of pattern of food allergens. Our study observed male preponderance with predominantly a third decade affliction. The most common food allergen in the study population was beetle nut (29.3%) followed by chilli powder and spinach (28.8% each). Along with aeroallergens, food allergens are also important provocateurs of allergic rhinitis. Diagnosing the offending food allergens and its avoidance reduces patient morbidity, need for pharmaceutical agents and subsequently drug dependence and its side effects. Offering subjects a replacement diet with food items of similar taste and nutritive character helps in sustainable avoidance therapy.

A Phase IV Study on Safety, Tolerability and Efficacy of Dolutegravir, Lamivudine, and Tenofovir Disoproxil Fumarate in Treatment Naïve Adult Indian Patients Living with HIV-1

PurposeWHO recommends dolutegravir (DTG) based regimens as first-line treatment for HIV-1 infection. However, few studies have been conducted in Indian population. Hence, our study evaluated the safety, tolerability, and efficacy of DTG 50 mg with Tenofovir and Lamivudine (300/300mg) fixed dose combination in treatment naïve adult Indian patients.MethodsThis was an open label, multicenter, prospective, interventional, phase IV study conducted across 14 sites between February 2019 and July 2020. 24 weeks was the treatment duration for each subject. The primary end point was to assess the incidence of adverse events (AEs) and secondary end points were to assess the proportion of patients achieving plasma HIV-1 RNA levels <50 copies/mL at week 24 and change in CD4+ cell count from the baseline. Safety analysis was conducted using Safety Analysis Set and efficacy analysis was carried out using Full Analysis Set and Per protocol set.ResultsA total of 288 patients were screened; 250 were enrolled; and 229 completed the study. 389 AEs were reported from 58% of patients. Of these, 61 were related to study treatment. One event of decreased creatinine clearance led to study discontinuation. One serious event of pyrexia was reported, which was unrelated to the study drug. The most common AEs were headache (18%), pyrexia (14%), vomiting (6.4%) and upper respiratory tract infections (6%). No deaths were reported. At week 24, 86.8% of the patients achieved plasma HIV-1 RNA levels <50 copies/mL and the mean CD4 cell count increased from 350.2 (SD, 239.73) at baseline to 494.6 (SD, 261.40) with an average increase of 143.2 (SD, 226.14) cells.ConclusionThis study demonstrated the safety and efficacy of DTG based regimen in treatment naïve HIV-1 patients in Indian population and support use of DTG as first-line treatment regimen.

New-Onset Ageusia among COVID-19 Patients- The Trend in the Indian Population

Introduction The COVID-19 virus has already caused a pandemic and needs no fresh introduction. Many studies in western literature have described the prevalence of anosmia and ageusia as symptoms of COVID-19. However, to our knowledge, there is no study describing the trend of new onset ageusia amongst covid positive patients in the Indian population. The objective of this study is to analyze the trend of new onset ageusia in COVID-19 affected individuals in the Indian population. Materials and Methods This is a retrospective observational study conducted in a treatment facility set up in Eastern part of India. The data was collected from Sep 2020 to Dec 2020. The study included 422 patients who were laboratory confirmed COVID-19 positive cases. Clinical data was extracted from the medical records of the patients. All the patients were treated as inpatients. The data was collected by Critical care specialist and Physician. All patients were classified as asymptomatic and symptomatic. The presence or absence of new onset ageusia was documented and statistically analyzed. Results Of 422 cases studied, 401 (95.0%) were male and 21 (5.0%) were female with the mean age of 37.9 ± 8.3 years. 147 (34.8%) were symptomatic and 275 (65.2%) were asymptomatic with 18 % (76/422) patients having ageusia in the study population. Conclusion The prevalence of ageusia amongst covid positive patients in Indian population is lesser as compared to reports in the western literature. The cause of this difference in prevalence of ageusia in different ethnicities is unknown. Apparently healthy individuals with new onset ageusia should be considered as asymptomatic covid carriers and should be treated accordingly.

Sarcomeric gene mutations in phenotypic positive hypertrophic cardiomyopathic patients in Indian population.

HCM is a monogenic cardiac disorder with a high risk of sudden cardiac death, heterogeneous phenotypic expression and genetic profile. HCM is expressed as autosomal dominant in fashion with the prevalence of 1:500 in the general population. The main objective of the current study was to unravel the mutation status in sarcomeric genes in urbanizing Pune population. HCM patients were recruited from Bharti hospital and Poona hospital and research centre, Pune after being screened by 2-D echocardiography. DNA was extracted from whole blood samples and PCR amplification was performed for selected exons from pre-selected genes, amplimers of >300 b.p were restriction digested and the SSCP technique was optimized for maximum result output. HCM patients shows the maximum prevalence of mitral regurgitation (23.3%) while the minimum prevalence was left auricular diameter (10%). Maximum variation spectrum was present in MYBPC3 genes as most of them were "benign" type as per Polyphen-2 tool status. Mutations in the MYH7 gene produce a prominent impact on splicing by the creation of a new SRP40 binding site (Exon Splicing Enhancer) as predicted by Human Splicing Finder 3.1. I736T mutation in the MYH7 gene results in replacement of β-strand by α-helix upstream from mutation site which may have a profound impact on protein tertiary structure as predicted by Polyphen-2 tool (probably damaging-1.00). Also, two 'novel' mutations and one 'novel' variation were reported in the present study. Thus, the MYBPC3 gene shows maximum mutation load among other sarcomeric genes. Double gene mutations do not represent much severe pathophysiology as compared to single gene mutated and genotypic negative HCM patients.

Glucokinase receptor genetic polymorphism in Indian population and its association with Non Alcoholic Fatty Liver Disease

Background and Aim: Non Alcoholic Fatty Liver Disease (NAFLD) is now the most important cause of Chronic Liver Disease (CLD) in both Western and Asian population. While some avenues are yet to be explored, underlying cause appears to be the explosive epidemic of metabolic syndrome and obesity in particular. However, the relation between the two is still not completely elucidated. Understanding the genetic background may have relevance to surveillance, therapeutic strategies and in developing preventive measures. There are limited studies on genetic background of NAFLD in Asian population. We attempted to study one such genetic variation, Glucokinase regulator gene (GCKR) in NAFLD patients in Indian population. We aimed to find the association of GCKR gene variants (rs780094, rs1260326) in patients with NAFLD in Indian population and to assess the relation of GCKR variants with clinical profile. Methods: A cross sectional analytical study was conducted in the Department of Gastroenterology at a tertiary care centre in western India. Total 100 subjects between the age group of 18-65 were included in the study. Out of which, 50 were patients with NAFLD including fatty liver, Non Alcoholic Steatohepatitis (NASH) and NASH related cirrhosis and 50 were healthy subjects (No NAFLD). Results: GCKR rs780094 minor allele A was more common in NAFLD patients as compared to healthy subjects. (p= 0.00001). Within the spectrum of NAFLD, A allele was present more commonly among cirrhotics and in NAFLD patients as compared to Non-alcoholic steatohepatitis (NASH) and fatty liver. (p=0.00001). Morbidly obese individuals showed significant association with homozygous A allele (p=0.028). These results were not seen with GCKR rs1260326 across all alleles. Conclusions: GCKR genetic variant rs780094 appears to be significantly associated with NAFLD in Indian population.

Clinical profile, imaging features and short term visual outcomes of Indian optic neuritis patients with and without seromarkers for myelin oligodendrocyte glycoprotein and neuromyelitis optica

Purpose:To analyze clinical profile, imaging features, and short-term visual outcomes of optic neuritis patients in Indian population with and without seromarkers for myelin oligodendrocyte glycoprotein (MOG)/neuromyelitis optica (NMO).Methods:Electronic medical records of 203 optic neuritis patients who presented between June 2018 and December 2019 to the Neuro-ophthalmology services of a tertiary care center in India were retrospectively analyzed.Results:Of 203 patients, 57 patients (28.08%) were positive for MOG-antibody and 20 patients (9.85%) were positive for NMO antibody. 114 patients (56.16%) were double-negative (negative for both antibodies) and 12 patients (5.91%) were diagnosed as multiple sclerosis (MS). None of the patients had both antibodies. Mean age of presentation was 31.29 ± 1.035 years. There was female preponderance in NMO-optic neuritis (NMO-ON) and MS-optic neuritis (MS-ON) groups (1:5). Mean vision on presentation was worse (logMAR 1.570 ± 0.863) in NMO-ON group. The mean visual acuity showed statistically significant recovery (logMAR 0.338 ± 0.639) in the final follow-up in MOG-optic neuritis (MOG-ON) group. Multivariate logistic regression analysis revealed poor visual outcome in patients presenting with retrobulbar neuritis, optic disc pallor, bilateral sequential optic nerve involvement, and with positive NMO antibody. Optic neuritis patients presenting with disc edema associated with pain and positive for MOG antibody were found to have a better visual outcome.Conclusion:In this Indian optic neuritis cohort, the prevalence of MOG-ON was higher than NMO-ON. MOG-ON had a better visual outcome than NMO-ON. The incidence of MS-ON was less compared to the western literature. A significant number of patients (114 patients, 56.16%) were double negative for both seromarkers and yet had presented with optic neuritis with no clinical or imaging features suggestive of MS/MOG associated disease (MOG AD)/NMO spectrum disorder (NMO SD).

Single-Point Insulin Sensitivity Estimator (SPISE) as a Feasible Marker of Insulin Resistance in Adult Metabolic Syndrome: Evaluated in a Hospital Based Cross-Sectional Pilot Study at Tertiary Care Centre of Uttarakhand.

Insulin resistance (IR) plays an important role as a major determinant of Metabolic syndrome (MetS). Various methods are available for measuring insulin resistance but they are laborious, time-consuming, and costly. Therefore various surrogate markers and indices have been devised to simplify and improve the determination of insulin resistance. Recently, a new index, single point insulin sensitivity estimator (SPISE) was proposed in the European population and was found comparable to the gold standard test (hyperinsulinemic euglycemic glucose clamp).This study was planned to evaluate whether SPISE could be a useful potential low-cost indicator for predicting MetS with IR patients in Indian population. Eighty-three participants from outpatient careof AIIMS Rishikesh were evaluated after informed consent. They were divided into Metabolic syndrome (n = 56) and Non Metabolic Syndrome(n = 27), using South Asian Modified National Cholesterol Education Program- ATP-III criteria for metabolic syndrome. SPISE index, HOMA-IR, Insulin Resistance Index, Triglycerides to high-density lipoproteins cholesterol ratio (TG/HDL-C) were calculated for all the subjects. Receiver operating characteristic (ROC) curve was plotted to assess discriminatory ability of SPISE, HOMA-IR, TG/HDL-C ratio, IRI and hs-CRP to differentiate between IR(Metabolic syndrome) and non-IR (Non-Metabolic syndrome) subjects. SPISE has greater area under curve with better sensitivity and specificity compared to HOMA-IR, IRI, TG/HDL-C ratio and hs CRP. So, SPISE has better predictive ability than HOMA-IR, IRI, TG/HDL-C ratio and hs CRP to discriminate IR from non-IR cases. SPISE could be a useful potential low-cost indicator with high sensitivity and specificity for predicting IR in MetS patients.

Serum vitamin D in Indian children with vernal keratoconjunctivitis

AIM: To determine the vitamin D levels in vernal keratoconjunctivitis (VKC) patients in Indian population. METHODS: A total of 30 non-atopic healthy children and 30 children having VKC were included in the study. The serum vitamin D levels and the time spent outside was compared between the two groups (P&lt;0.05). RESULTS: The mean serum vitamin D level in the VKC group was significantly lower (mean 19.17±10.76 ng/mL) compared to the control group (mean 31.19±9.09 ng/mL) (P=0.0003). The vitamin D levels were found to be deficient (10-20 ng/mL) in 43.33%, whereas severe deficiency (&lt;10 ng/mL) was found in 20% of the VKC patients. The deficiency of vitamin D correlated with the level of severity of VKC (P&lt;0.02). The time spent outside in the VKC group was 1.07±0.76h, whereas in the healthy subjects it was 2.08±0.72h (P&lt;0.0001), and it showed a significant correlation with the serum 25 (OH) D3 levels (r=0.478, P&lt;0.001). CONCLUSION: The study shows that children with VKC had a significantly lower serum vitamin D levels as compared to the healthy children which correlated with time spent outside. The severity of VKC also correlated with the severity of vitamin D deficiency which suggests that vitamin D plays an important role in maintaining ocular surface health.

The Spectrum of Clinical, Immunological, and Molecular Findings in Familial Hemophagocytic Lymphohistiocytosis: Experience From India.

Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of immune dysregulation characterized by hyperactivation of the immune system, excessive cytokine secretion and severe systemic inflammation. HLH is classified as familial (FHL) when associated with mutations in PRF1, UNC13D, STX11, and STXBP2 genes. There is limited information available about the clinical and mutational spectrum of FHL patients in Indian population. This study is a retrospective analysis of 101 molecularly characterized FHL patients over the last 10 years from 20 different referral centers in India. FHL2 and FHL3 together accounted for 84% of cases of FHL in our cohort. Patients belonging to different FHL subtypes were indistinguishable based on clinical and biochemical parameters. However, flow cytometry-based assays viz. perforin expression and degranulation assay were found to be specific and sensitive in diagnosis and classification of FHL patients. Molecular characterization of respective genes revealed 76 different disease-causing mutations including 39 (51%) novel mutations in PRF1, UNC13D, STX11, and STXBP2 genes. Overall, survival was poor (28%) irrespective of the age of onset or the type of mutation in our cohort. Altogether, this article sheds light on the current scenario of FHL in India. Our data reveal a wide genetic heterogeneity of FHL in the Indian population and confirms the poor prognosis of FHL. This study also emphasizes that though mutational analysis is important for diagnostic confirmation of FHL, flow cytometry based assays help significantly in rapid diagnosis and functional validation of novel variants identified.

Health-related Quality of Life (HRQoL) of Individuals from Pune city after 6 weeks of Mild and Moderate grade COVID-19 infection

Background: Coronavirus disease (COVID-19) caused by SARS-CoV-2 virus was declared as a global pandemic by the WHO in March 2020. India is the second worst hit by the pandemic in which Maharashtra records highest number of infected cases in the country with Pune topping the count. Prevalence of Mild and Moderate grade of COVID-19 infection is high among the population. HRQoL was found to be curtailed in adults who suffered from Upper respiratory tract infection and also in survivors of H1N1 pandemic, SARS and MERS epidemics. Purpose of study: Alteration in individual’s HRQoL can affect his daily activities and community participation. There is a dearth of studies about the impact of COVID-19 infection on the quality of life of patients in Indian Population. Hence, the following study was undertaken and HRQoL was assessed using components of Short Form-12 questionnaire. Results and main findings: This cross-sectional study was carried out on 121 individuals across Pune city, after a mean of 45 days after suffering from Mild (73%) or Moderate (27%) grade of COVID-19 infection. Out of the study population, 29% had one or more co-morbidities present such as type 2 diabetes mellitus, systemic hypertension, hypothyroidism. Results of the components of the SF-12 questionnaire of these individuals are as follows. 61.15% of the study population have no limitations in physical functioning, 65% have no limitation in role physical activities, 72.7% have no pain interference in their daily activities, 92.6% have positive general health perception, 90% have good amount of energy in their daily life, 89.2% have no significant interference in their social activities, 74% have no limitations in their daily activities due to their emotional health, 72.7% have felt peaceful for significant amount of the time and 64.9% individuals have not felt depressed or sad since the infection. Conclusion: Health-related Quality of Life is not impaired in 61.15% of the population of Pune city who suffered from mild and moderate grade COVID-19 infection. Clinical implication: This study can be helpful in planning a multidisciplinary treatment after 6 weeks of the infection for individuals who were mildly or moderately infected by COVID-19. KEY WORDS: Covid-19, Health related quality of life, SF-12, persistent symptoms.

Olfactory and Gustatory Dysfunction in COVID-19 Patients: A Tertiary Care Institute Experience in India.

COVID-19 epidemic has varied spectrum of symptoms. With this study we aim to evaluate prevalence of Olfactory and Gustatory dysfunction in COVID-19 patients. To assess Olfactory and Gustatory dysfunction in COVID-19 Patients in Indian Population. Settings and Design: Prospective observational study. RT-PCR proven COVID-19 patients were enrolled in the study. Detailed history and olfactory function and Taste function were evaluated. Patient with symptoms of olfactory dysfunction were subjected to fill (sQOD-NS questionnaire). Re-evaluation was done weekly till the time of discharge. Analysis was done with Wilcoxon test with help of SPSS software. A total of 152 patients (Male-78, Female-74) completed the study after weekly evaluation. Olfactory and Gustatory dysfunction was seen in 28 (18.41%) and 20 (13.15%). Mean duration of symptoms was 2.4444 ± 0.352 days. Olfactory dysfunction was the first presenting symptom in 11 out of 152 patients (7.23%). Mean QD-NOS score in patients with Anosmia and Hyposmia (28 patients) was 11.4 ± 2.01 and 13.61 ± 2.82 at 1st evaluation, 20.3 ± 1.49 and 20.33 ± 1.57 at 7th day and 21 in both subgroups at 14th day follow up. Dysgeusia was noticed in 20/152 patients (13.15%). Recovery in olfactory dysfunction and Dysgeusia was complete in all patients. Olfactory and gustatory dysfunctions are significant part of clinical spectrum of COVID-19 disease In Indian Population.

The incidence of symptomatic deep vein thrombosis and pulmonary embolism in the Indian population, following TKA patients, with postoperative prophylaxis

Introduction: Deep Vein Thrombosis (DVT) and Pulmonary Embolism (PE) are the life-threatening complications which can occur in patients undergoing elective Total Knee Arthroplasties (TKA). Incidence in western population appears high in published Literature. While the Indian population it appears to be variable. The difference might be due to different Genetic makeup, social lifestyles of both populations.1 The study intends to find an incidence of symptomatic DVT and PE in postoperative TKA patients on the prophylactic drug regimen. Aim: To study the incidence of symptomatic DVT and PE, in post-TKA patients in Indian population. Materials and Methods: Retrospective Study conducted from 1st may, 2017 to 1st may 2018 in BIRRD (T) Hospital. All patients who underwent TKA are included, after following inclusion and exclusion criteria. These patients were evaluated for symptoms during the hospital stay and after discharge for 3 Months. Result: Total number of patients who had TKA were 2292(N=2292). The symptomatic DVT was found in 6(n=6) patients. All 3 patients were managed with a therapeutic regimen. Four patients developed PE (p=4) during the study period, three patients developed pulmonary embolism in first 24 hours postoperatively and expired in spite of ICU management. One patient expired on the 4th-week postoperatively, with PE at home. Two patients presented with symptoms on 2nd and 4th postoperative days, one underwent fasciotomy on 4th postoperative day. All other patients were on a prophylactic regimen. Conclusion: Our results suggest incidence of DVT and PE are low in the Indian population with a prophylactic regimen. Keywords: Deep vein thrombosis, Pulmonary embolism, Prophylaxis, Total knee arthroplasties, Venous thromboembolism.

Role of Sialendoscopy in Non-neoplastic Parotid Diseases: A Prospective Study of 241 Patients in Indian Population.

To assess the role of sialendoscopy as a diagnostic modality and in managing cases of non-neoplastic parotid gland diseases. Secondly, to provide descriptive analysis of intraoperative findings. The patients of chronic parotid sialadenitis who presented with complaints of recurrent unilateral or bilateral parotid swelling and pain were included in the study. All patients underwent sialendoscopy, and the findings were noted. Intervention was carried out in the same sitting like dilatation of stenosis, stone removal by basket, combined approach, flushing of mucoid flakes, etc. Failed cases were worked up with radiological investigation and managed accordingly. Two hundred and forty-one cases of parotid sialadenitis who underwent sialendoscopy between 2012 and 2018 were included. Diagnostic sialendoscopy was achieved in 100% cases, while intervention was successful in 96.7% (233/241) cases after the first procedure. On diagnostic sialendoscopy, ductal stenosis was the most common pathology present in 177 (73.4%) patients followed by stones (12%) and debris (11.6%). All cases of stenosis were serially dilated with increasing sizes of sialendoscopes followed by stenting in 75% of the cases. The diagnosis of juvenile recurrent parotitis was confirmed in 17 children (mean age 5.6years) with consistent clinical history and sialendoscopic findings of stenosis along with pale ductal mucosa. There were 18 cases where ductal perforation was seen. One case showed multiple hyperdense foci in bilateral parotid gland along with multiple strictures that underwent repeat sialendoscopy, but the symptoms did not resolve, and finally the patient underwent bilateral superficial parotidectomy. Sialendoscopy is a safe and highly effective modality in managing non-neoplastic parotid gland disorders with low complication rates and resulted in gland preservation in the vast majority of patients. Therefore, it can be concluded that sialendoscopy is the diagnostic and therapeutic modality of choice for parotid obstructive sialadenitis.

Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population.

Tuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Osteogenesis imperfecta (OI) is a group of inherited disorders with increased bone fragility and wide genetic heterogeneity. We report the outcome of clinical exome sequencing validated by Sanger sequencing in clinically diagnosed 54 OI patients in Indian population. In 52 patients, we report 20 new variants involving both dominant and recessive OI-specific genes and correlate these with phenotypes. COL1A1 and COL1A2 gene variants were identified in 44.23%, of which 28.84% were glycine substitution abnormalities. Two novel compound heterozygous variants in the FKBP10 gene were seen in two unrelated probands. A novel heterogeneous duplication of chromosomal region chr17: 48268168-48278884 from exons 1-33 of the COL1A1 gene was found in one proband. In five probands, there were additional variants in association with OI. These were ANO5 in association with CRTAP in two probands of the same family causing gnathodiaphyseal dysplasia, COL5A2 with LEPRE1 causing Ehlers Danlos syndrome, COL11A1 in addition to COL1A1 causing Stickler syndrome, and a previously unreported combination of SLC34A1 gene variant with FKBP10 leading to Fanconi renal tubular syndrome type II. Our findings demonstrate the efficacy of clinical exome sequencing in screening OI patients, classifying its subtypes, and identifying associated disorders in consanguineous populations.

Dermatological findings in SARS-CoV-2 positive patients: An observational study from North India.

A novel coronavirus (severe acute respiratory syndrome corononavirus‐2; SARS‐CoV‐2) has affected millions of people across the world. The coronavirus disease (COVID‐19) resulting from SARS‐CoV‐2 manifests in variable clinical severity, featuring both respiratory and extra‐respiratory symptoms. Dermatological manifestations of COVID‐19 are sparsely reported. To study the various dermatological findings in SARS‐CoV‐2 positive patients in Indian population. Institutional ethical committee permission was sought and102 SARS‐CoV‐2 positive patients were included in the study. A thorough clinical examination was done to determine the nature and frequency of various dermatological manifestations in these patients. Out of the 102 positive cases, 95 were males. The mean age of the group was 39.30 years. Thirteen patients (12.7%) were found to have dermatological manifestations. Three (2.9%) had maculopapular rash, two (1.9%) had urticarial lesions and eight (7.8%) patients had itching without any specific cutaneous signs. Trunk was the most frequently affected area, followed by the extremities. No mucosal signs and symptoms were detected. Dermatological manifestations were seen in a small group of COVID‐19 patients. The presentation may vary in different population groups and based on severity of disease.

Mutation spectrum of Duchenne muscular dystrophy patients in Indian population

Background: Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder in children. Since the novel, DMD therapies are mutation-specific, so detection of mutation is of paramount importance in planning the treatment of DMD patients. Objective: The objective of this study was to find different mutations present in DMD patients in Indian population. Materials and Methods: This study was a hospital-based retrospective observational study conducted from December 2018 to December 2019 in the pediatric department of a tertiary hospital of western India. A total of 52 children age 2–16 years, presenting with progressive muscle weakness, were included in the study. DMD multiplex ligation-dependent probe amplification (MLPA) for 79 exons was done for detection of deletion/duplication for all patients. Whole DMD gene sequencing was done for those who were found MLPA negative for DMD gene mutation (deletion/duplication). Results: Our study states that most of the DMD patients presented with deletions (84%) or duplications (11%) in the dystrophin gene, and remaining due to point mutation. The study shows that most of the mutations occur due to deletions (67.30%) in DMD gene at distal hotspot 45–52 exons and deletions (15.38%) in DMD gene at proximal hotspot 10–19 exons. In addition, to expanding the mutational spectrum of DMD, these results establish improved mutations data in the Indian population. Conclusion: The novel developed therapies for DMD are mutation-specific, so molecular diagnostic tests are very important in diagnosis and categorization for the prevalent mutations in the Indian population.