Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)—A Case Series with Recurrent c.740_741del Variant

2021 ◽  
Author(s):  
Mayank Nilay ◽  
Anup Rawool ◽  
Kausik Mandal
Keyword(s):  
Indian Population ◽  
Case Series ◽  
Pathogenic Variant ◽  
North India ◽  
Exon 2 ◽  
Putative Gene ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
School Aged Children ◽  
The North ◽  
Progressive Degeneration

AbstractProgressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive arthropathy, affecting school-aged children. It is characterized by progressive degeneration of the articular cartilage. The majority of the pathogenic variations are found in exon 2, exon 4, and exon 5 of the putative gene, CCN6 (WISP3). Three unrelated individuals with clinical diagnosis of PPD were included in this study. Detailed clinicoradiological evaluation was attempted with brief literature review. Exome sequencing was performed in all three cases. All the pathogenic variations detected in our cohort were located in exons 2 and 4 of WISP3 gene. Though the clinicoradiological features are already well described, this study in north India highlights the occurrence of a recurring pathogenic variant. The c.740_741del variant was a recurrent pathogenic variant seen in all three patients in this cohort. This may be a common pathogenic variant in the North Indian population; however, a larger cohort needs to be studied before drawing final conclusions. A proper molecular diagnosis is a must to end the diagnostic odyssey, safeguarding patients with PPRD from unnecessary use of drugs like corticosteroids.

scholarly journals Evaluation of the factors related to dental anxiety in North Indian population: a questionnaire study

2020 ◽  
Vol 7 (6) ◽  
pp. 2230
Author(s):  
Iqbal Singh ◽  
Nitish Bhat ◽  
Robindera Kaur ◽  
Kalpna Thakur ◽  
Hemwati Nandan ◽  
...  
Keyword(s):  
Indian Population ◽  
Dental Anxiety ◽  
North India ◽  
P Value ◽  
North Indian Population ◽  
Factors Affecting ◽  
The North ◽  
High Prevalence ◽  
Anxiety Levels ◽  
Elder People

Background: To evaluate the factors affecting dental anxiety level on the basis of a questionnaire in the North Indian Population.Methods: A questionnaire based on the various factors related to dental anxiety was formulated and distributed among the various regions of the north India. We got response from 250 people, the data was then analysed and results were formulated.Results: Out of 450 questionnaires which were distributed, a total of 400 questionnaires were received. Overall high prevalence of dental anxiety i.e. 85% was noted. More increased values for anxiety were seen for people younger than 30 years (70%), compare to that of elder people (30%). Females seem to have greater anxiety levels as compared to males (p value >0.000). Among 450 people 176 had visited clinics previously with 98 having bad experience (55.6%) and 78 people having a relatively good past dental experience (44.2%).Conclusions: Anxious patients are often more difficult to treat, therefore the questionnaire proved beneficial in estimating factors related to dental anxiety. Young people, women and those having negative dental experience had the highest anxiety levels. 

scholarly journals A Study of Transmigrated Canine in an Indian Population

2014 ◽  
Vol 2014 ◽  
pp. 1-9 ◽  
Author(s):  
Gaurav Sharma ◽  
Archna Nagpal
Keyword(s):  
Indian Population ◽  
North India ◽  
North Indian Population ◽  
Dental Anomalies ◽  
Panoramic Radiographs ◽  
The North ◽  
Mandibular Canine ◽  
Type 3 ◽  
Age Range

Aim. The purpose of this study was to investigate the prevalence of transmigrated canines in a north Indian population and association with gender, side, associated pathologies, and dental anomalies. Subjects and methods. The prospective study consisted of panoramic radiographs of 3000 patients from two dental colleges in north India. The panoramic radiographs were screened for radiographically identified position of the transmigrated tooth, retained canine, and other coexisting dental anomalies. Results. The overall prevalence of transmigrated canines (15 mandibular and 5 maxillary) was 0.66%. The prevalence of mandibular transmigrated canine was 0.5% and maxillary transmigrated canine was 0.16%. All the transmigrated canines were unilateral. The age range was 15–53 years (average age 24.1 years) and there were 12 males (60%) and 8 females (40%). Type 1 mandibular canine transmigration was the commonest type found in our study (10 cases), followed by types 2 and 4 (2 cases each) and 1 case of type 5 transmigration. Conclusion. The prevalence of transmigrated canines in the north Indian population was 0.66% and no gender predilection was evident. The transmigrated canines have a low complication rate (10.0%) and no correlation with other dental anomalies was found. Type 3 canine is the rarest form of mandibular canine transmigration.

scholarly journals A study on the correlation of matrix metalloproteinase MMP1 in COPD and smoking in the North Indian population

2017 ◽  
Vol 8 (1) ◽  
pp. 5-14 ◽  
Author(s):  
Vishwajeet Rohil ◽  
V K Vijayan ◽  
Raj Kumar ◽  
Rini Joshi ◽  
P Pavani ◽  
...  
Keyword(s):  
Gene Product ◽  
Negative Correlation ◽  
Indian Population ◽  
North India ◽  
Smoking History ◽  
Sequencing Analysis ◽  
Healthy Controls ◽  
North Indian Population ◽  
The North ◽  
Co Morbidity

Background: Chronic Obstructive Pulmonary Disease (COPD) is characterized by airway obstruction and destruction of lung tissue, the disease for which at present there is no cure, although the treatment can slow worsening. Nearly 90% of COPD is caused by long term cigarette smoking; however, only 25% of chronic tobacco smokers develop COPD, the exact cause of this predisposition of some smokers to acquire COPD is still poorly understood at the molecular level. Lot of studies are available showing the correlation of MMP1 and asthma but not much work has been done on its correlation with COPD especially in North India. The outcome of our study was also expected to discover MMP1 as a new target for treating COPD and its progression in smokers.Aim and Objectives: The association of COPD and smoking with MMP1 gene product and its SNP in the North Indian population was intended to be studied.Material and Methods: The proposed study was a case control study. In this study adults aged 30 years and above fulfilling the inclusion criteria (Please see Annexure I) were considered and a total of 180 subjects were taken after determining the sample size. Pulmonary function test (PFT) was performed by Spirometry. Three main groups each consisting of 60 subjects were formed on the basis of smoking history and Spirometry: Ist group: Smokers without co-morbidity with normal PFT, IInd group: Smokers with Spirometry proved COPD and without any other co-morbidity, IIIrd group: Healthy Non-smoker controls. Quantification of metalloproteinase MMP1 in all the groups were performed in the serum with ELISA kits and Single Nucleotide Polymorphism (SNP 1G-1607 2G, ID rs1799750) studies in the gene encoding MMP1 linked to COPD susceptibility in smokers was performed by DNA Sequencing Analysis. The correlation between the SNPs, gene product, smoking and COPD was studied.    Results: MMP1 concentration was seen increased in serum of COPD and smokers when compared to healthy controls.  And there is high negative correlation between *FEV1/FVC % (post-bronchodilator) and MMP1 in COPD compared to Smokers and Healthy Controls. However, from the results of present analysis, we could show negative correlation between MMP1 and *FEV1/FVC % in all the 3 groups but the correlation proves to be much more negative in Group II i.e. Smokers with COPD. Statistically Significant Positive Correlation of Pack Years with MMP1 conc., and Statistically Significant Negative Correlation between Pack Years and *FEV1/FVC % was seen.Conclusion:In conclusion, our present analyses did show significant association between MMP1 and COPD risk in North Indian population. MMP1 levels of COPD patients were significantly increased in smokers and may contribute to or be a marker of the pathophysiology of COPD. Asian Journal of Medical Sciences Vol.8(1) 2017 5-14

scholarly journals Psoriasis-Associated Genetic Polymorphism in North Indian Population in the CCHCR1 Gene and in a Genomic Segment Flanking the HLA-C Region

2011 ◽  
Vol 31 (6) ◽  
pp. 361-370 ◽  
Author(s):  
G. Gandhi ◽  
B. Singh Buttar ◽  
L. Albert ◽  
Q. Hasan ◽  
R. K. Aggarwal
Keyword(s):  
Indian Population ◽  
Coiled Coil ◽  
Human Leukocyte ◽  
North India ◽  
North Indian Population ◽  
Association Analyses ◽  
Leukocyte Antigen ◽  
The North ◽  
High Prevalence ◽  
Global Population

Psoriasis is a common, chronic, recurrent, inflammatory, hyper proliferative disorder of the skin, which has a relatively high prevalence in the general population (0.6–4.8%). Linkage and association analyses in various populations have revealed a major locus for psoriasis susceptibility, PSORS1, at 6p21.3. Association of the disease with human leukocyte antigen (HLA) Cw6, corneodesmosin (CDSN) and the coiled-coil alpha-helical rod protein-1 (CCHCR1) has also been reported. Though the PSORS1 locus accounts for 30–50% of familial psoriasis in various global population groups, yet no studies have been published from the North Indian population. Some of the SNPs in HLA-C and CCHCR1 genes have been reported as markers for disease susceptibility. Therefore in the present study, DNA samples from psoriasis patients from North India were genotyped for polymorphisms in CCHCR1 and HLA-C genes. The allele frequencies were calculated for patients and controls, and were compared for odds ratio and confidence interval values. SNPn.7*22222 (rs12208888), SNPn.7*22333 (rs12216025), SNPn.9*24118 (rs10456057), CCHCR1_386 (rs130065), CCHCR1_404 (rs130076) and CCHCR1_1364 (rs130071) were found to be significant in psoriasis patients. Linkage disequilibrium analysis revealed two haplotypes (rs12208888,rs2844608,rs12216025,rs10456057,rs130065,rs130066,rs130068,rs130269,andrs12208888,rs2844608,rs12216025,rs130076,rs130066,rs130068,rs130269,rs130071) as highly susceptible haplotypes for psoriasis in the cohort studied. Preliminary analysis of the data also suggests the possibilities of ethnic group specific disease related polymorphisms, pending validation in future studies.

TBE in Italy

2019 ◽  
Author(s):  
Valentina Tagliapietra ◽  
Flavia Riccardo ◽  
Giovanni Rezza
Keyword(s):  
Case Series ◽  
East Part ◽  
Mountainous Regions ◽  
North East ◽  
The North ◽  
Tick Borne Encephalitis ◽  
Low Incidence

Italy is considered a low incidence country for tick-borne encephalitis (TBE) in Europe. Areas at higher risk for TBE in Italy are geographically clustered in the forested and mountainous regions and provinces in the north east part of the country, as suggested by TBE case series published over the last decade.

TBE in Italy

2020 ◽  
Keyword(s):  
Surveillance System ◽  
Ad Hoc ◽  
National Level ◽  
Case Series ◽  
Incidence Rates ◽  
Mountainous Regions ◽  
North East ◽  
The North ◽  
Tick Borne Encephalitis ◽  
Low Incidence

Italy is considered a low-incidence country for tick-borne encephalitis (TBE) in Europe.1 Areas at higher risk for TBE in Italy are geographically clustered in the forested and mountainous regions and provinces in the north east part of the country, as suggested by TBE case series published over the last decade.2-5 A national enhanced surveillance system for TBE has been established since 2017.6 Before this, information on the occurrence of TBE cases at the national level in Italy was lacking. Both incidence rates and the geographical distribution of the disease were mostly inferred from endemic areas where surveillance was already in place, ad hoc studies and international literature.1

scholarly journals IL-10(-592A/C) gene variant a predictor of postoperative atrial fibrillation in the north Indian population

2018 ◽  
Vol 34 (3) ◽  
pp. 281-285 ◽  
Author(s):  
Surabhi Yadav ◽  
Salman Akhtar ◽  
Surendra K. Agarwal ◽  
Gauranga Majumdar ◽  
Suman Vimal ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Indian Population ◽  
Postoperative Atrial Fibrillation ◽  
Gene Variant ◽  
North Indian Population ◽  
The North

Literary Conduits for ‘Consent’

2016 ◽  
Vol 19 (2) ◽  
pp. 322-350 ◽  
Author(s):  
Pankaj Kumar Jha
Keyword(s):  
Sixteenth Century ◽  
Fifteenth Century ◽  
North India ◽  
Indian Society ◽  
Historical Process ◽  
The North ◽  
Literary Cultures

The making of the imperial subjects is as much a matter of historical process as the emergence of the empire. In the case of the Mughal state, this process started much before its actual establishment in the sixteenth century. The fifteenth century in North India was a period of unusual cultural ferment. The emergence of the Mughal imperial formation in the next century was intimately related to the fast congealing tendency of the north Indian society towards greater disciplining of itself. This tendency is evident in the multilingual literary cultures and diverse knowledge formations of the long fifteenth century.

Reformism and Orthodox Practice in Early Nineteenth-Century Muslim North India: Sayyid Ahmed Shaheed Reconsidered

2011 ◽  
Vol 21 (2) ◽  
pp. 177-198
Author(s):  
SANA HAROON
Keyword(s):  
Nineteenth Century ◽  
North India ◽  
Ordinary People ◽  
Early Nineteenth Century ◽  
The North ◽  
The Creation

AbstractThis paper is a reconsideration of the career of the north-Indian Sayyid Ahmed Shaheed (1786–1831). I argue that Sayyid Ahmed used a Sufi devotional premise to understand and explain principles of orthodoxy. He also applied a concept of innate spiritual knowledge to reformed practice, suggesting that ordinary people, without scholarly training, could determine and apply the principles of orthodox practice of Islam for themselves and for others. His movement modified traditional seminary-centred teaching and leadership through the creation of a popular and easily transferrable system of practice rooted in the community and imprinted with the obligation to spread reformist teachings.

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