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282 results on '"Bhatia, Vijayalakshmi"'

6. Neonatal Diabetes Mellitus: Novel Mutations

Author

Nayak, Sapna, Sarangi, Aditya Narayan, Sahoo, Saroj Kumar, Mangla, Pragya, Tripathy, Manoranjan, Rao, Sudha, Gupta, Suchit, Paliwal, Vimal Kumar, Sudhanshu, Siddhnath, Ravi, Chaitra, Joshi, Kriti, Bhatia, Vijayalakshmi, and Bhatia, Eesh

Published
2021
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9. High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes

Author

Menon, Jayakrishnan C, primary, Singh, Pratibha, additional, Archana, Archana, additional, Singh, Preeti, additional, Mittal, Medha, additional, Kanga, Uma, additional, Mandal, Kausik, additional, Seth, Anju, additional, Bhatia, Vijayalakshmi, additional, Dabadghao, Preeti, additional, Sudhanshu, Siddhnath, additional, Garg, Atul, additional, Vishwakarma, Ruchira, additional, Sarangi, Aditya Narayan, additional, Verma, Shivendra, additional, Singh, Surya Kumar, additional, and Bhatia, Eesh, additional

Published
2023
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12. Correspondence

Author

Bhatia, Vijayalakshmi, Francis, Paul T., Salunke, Gaurav, Shah, Ira, Madarkar, B. S., Kaur, P., Gowda, Vykuntaraju K., Ahmad, Najeeb, Chacham, Swathi, Aggarwal, Ramesh, Varkki, Sneha, Rose, Winsley, Arya, Adhi, and Arora, Saloni

Published
2019
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14. High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.

Author

Menon, Jayakrishnan C, Singh, Pratibha, Archana, Archana, Singh, Preeti, Mittal, Medha, Kanga, Uma, Mandal, Kausik, Seth, Anju, Bhatia, Vijayalakshmi, Dabadghao, Preeti, Sudhanshu, Siddhnath, Garg, Atul, Vishwakarma, Ruchira, Sarangi, Aditya Narayan, Verma, Shivendra, Singh, Surya Kumar, and Bhatia, Eesh

Subjects
GENETIC mutation, TYPE 1 diabetes, CHILDREN'S health
Abstract

Background: While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology has not been studied. We investigated the role of monogenic diabetes in the causation of islet antibody-negative T1DM. Methods: We conducted a multicenter, prospective, observational study of 169 Indian children (age 1-18 years) with recent-onset T1DM. All were tested for antibodies against GAD65, islet antigen-2, and zinc transporter 8 using validated ELISA. Thirty-four islet antibody-negative children underwent targeted next-generation sequencing for 31 genes implicated in monogenic diabetes using the Illumina platform. All mutations were confirmed by Sanger sequencing. Results: Thirty-five (21%) children were negative for all islet antibodies. Twelve patients (7% of entire cohort, 34% of patients with islet antibody-negative T1DM) were detected to have pathogenic or likely pathogenic genetic variants. The most frequently affected locus was WFS1, with 9 patients (5% of entire cohort, 26% of islet antibody-negative). These included 7 children with homozygous and 1 patient each with a compound heterozygous and heterozygous mutation. Children with Wolfram syndrome 1 (WS) presented with severe insulin-requiring diabetes (including 3 patients with ketoacidosis), but other syndromic manifestations were not detected. In 3 patients, heterozygous mutations in HNF4A, ABCC8, and PTF1A loci were detected. Conclusion: Nearly one-quarter of Indian children with islet antibody-negative T1DM had recessive mutations in the WFS1 gene. These patients did not exhibit other features of WS at the time of diagnosis. Testing for monogenic diabetes, especially WS, should be considered in Indian children with antibody-negative T1DM. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Correspondence

Author

Kalpana, Sivasambo, Lakshmi, Velmurugan, Seth, Anju, Bhatia, Vijayalakshmi, Khadilkar, Anuradha, Khadilkar, Vaman, Prasad, Arun, Patra, Pratap, Narang, Manish, Puri, Amarender Singh, Dudeja, Sankalp, Bandyopadhyay, Tapas, Shukla, Vivek Vishwanath, Faridi, M. M. A., Narang, Manish, Thakre, Rhishikesh, and Patil, P. S.

Published
2018
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29. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Author

Munns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, DiMeglio, Linda A., Atapattu, Navoda, Cassinelli, Hamilton, Braegger, Christian, Pettifor, John M., Seth, Anju, Idris, Hafsatu Wasagu, Bhatia, Vijayalakshmi, Fu, Junfen, Goldberg, Gail, Sävendahl, Lars, Khadgawat, Rajesh, Pludowski, Pawel, Maddock, Jane, Hyppönen, Elina, Oduwole, Abiola, Frew, Emma, Aguiar, Magda, Tulchinsky, Ted, Butler, Gary, and Högler, Wolfgang

Published
2016

37. Correspondence

Author

Joshi, Kriti, Bhatia, Vijayalakshmi, Balasubramanian, S., Yadav, Kapil, Giridara Gopal, P., and Chaudhary, Chintu

Published
2014
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42. Clinical Scenarios

Author

Zacharin, Margaret, primary, O’Connell, Michele, additional, Ritzen, Martin, additional, Boot, Annemieke M., additional, Bhatia, Vijayalakshmi, additional, Simon, Anna, additional, and Patel, Leena, additional

Published
2013
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44. Prevalence and epidemiological profile of celiac disease in children with type 1 diabetes mellitus: Experience from a tertiary care center of India.

Author

Sharma, Lokesh, Sudhanshu, Siddhnath, Bhatia, Vijayalakshmi, and Dabadghao, Preeti

Subjects
CELIAC disease diagnosis, BIOMARKERS, ACQUISITION of data methodology, BIOPSY, GLUTEN, IMMUNOGLOBULINS, SERODIAGNOSIS, CHILDREN'S hospitals, TYPE 1 diabetes, RETROSPECTIVE studies, TERTIARY care, CELIAC disease, DISEASE prevalence, MEDICAL records, AGE factors in disease, IMMUNITY, TRANSFERASES, SYMPTOMS, CHILDREN, ADOLESCENCE
Abstract

Background: The HLA associations of celiac disease (CD) in north Indians differ from that in Europeans. Our dietary gluten is among the highest in the world. Data on CD in people with diabetes (PWD) in north India is scant. Objective: To estimate the prevalence and clinical profile of CD in children with type 1 diabetes (T1D). Research Design and Methods: Retrospective review of case records of PWD with onset ≤18 years of age, registered between 2009 and 2020, having at least one anti tissue‐transglutaminase (anti‐tTG) serology report. Results: Of 583 registered PWD, 398 (68.2%) had celiac serology screening. A positive report was obtained in 66 (16.6%). Of 51 biopsied people, 22 (5.5%) were diagnosed to have CD, 12 in the first 2 years of diabetes onset. Symptomatic CD at diagnosis was seen in 63% (14/22). Age at diabetes onset (median [IQR] age 5.5 years, [2–12]) was lower in PWD and CD compared to PWD alone (10 years, [7–14], p < 0.016). Of 36 biopsied children with anti‐tTG >100 au/ml, 20 (55.5%) had CD, while 2 out of 15 (13.3%) of those with lower anti‐tTG titer had histopathology suggestive of CD. Of 23 seropositive children not diagnosed with CD, 5 of 8 with anti tTG >100 au/ml, and all 15 with lower anti‐tTG, had normalization of titers over the 24 (10–41) months. Conclusions: Our prevalence of CD is comparable to international data. Celiac disease was common with younger age at onset of T1D and higher titer of celiac serology. A high proportion was symptomatic of CD at diagnosis. [ABSTRACT FROM AUTHOR]

Published
2022
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