India’s First International Cerebral Palsy Confrence

MD Pediatric Medicine, PhD Genetics (Honorary)

Dr. Priyanshu Mathur

Department of Pediatric Medicine               
J K Lon Hospital , SMS Medical College, JLN Marg, Near Trimurti circle,  Gangwal Park, Jaipur, Rajasthan 302004, no.919982451490, priyanshu82@gmail.com

52/15, V T Road, Mansarovar, Jaipur,Rajasthan 302020. no. 919982451490, www.drpriyanshumathur.com

Education 

2018-2019   Fellowship metabolic genetics and newborn screening, Atlanta, GA, USA

2007-2010  MD Pediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

2000-2005   MBBS, Vijayanagar Institute of Medical Sciences, Bellary, Karnataka, India

RESEARCH EXPERIENCE

2021  -Honorary Doctorate (PhD) in Genetics (IIU)

2020-Present  Associate Professor, SMS Medical College, Jaipur, Rajasthan, India

2019-2020  Assistant Professor, SMS Medical College, Jaipur, Rajasthan, India

2018-2019      Fellowship metabolic genetics and newborn screening, Atlanta, GA, USA

2018-2018      Started NBS lab at J K Lone hospital, Jaipur, Rajasthan, India

2016-Present  Started first Indian Rare Diseases Registry (www.rarediseasesregistryindia.com)

2012-2018      Assistant Professor, SMS Medical College, Jaipur, Rajasthan, India

2010-2012      Senior Resident, SMS Medical College, Jaipur, Rajasthan, India

2007-2010      MD Pediatric Medicine, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

TEACHING EXPERIENCE

2020-Present  Associate Professor, SMS Medical College, Jaipur, Rajasthan, India

2012-2020      Assistant Professor, SMS Medical College, Jaipur, Rajasthan, India

2010-2012      Senior Resident, SMS Medical College, Jaipur, Rajasthan, India

2007-2010      MD Pediatric Medicine, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

CLINICAL EXPERIENCE

2020-Present  Associate Professor, SMS Medical College, Jaipur, Rajasthan, India

2019-2020      Assistant Professor, SMS Medical College, Jaipur, Rajasthan, India

2018-2019      Visiting assistant professor, clinical biochemical genetics and newborn screening, Atlanta, GA, USA

2014-Present  Rare diseases clinic at J K Lone hospital, Jaipur, Rajasthan, India

2012-2018      Assistant Professor, SMS Medical College, Jaipur, Rajasthan, India

2010-2012      Senior Resident, SMS Medical College, Jaipur, Rajasthan, India

2007-2010      MD Pediatric Medicine, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

2000-2005      MBBS, Vijayanagar Institute of Medical Sciences, Bellary, Karnataka, India

HONORS AND DISTINCTIONS

2021            Honorary Doctorate (PhD) in Genetics (IIU)

2019            Fellowship – Clinical Biochemical genetics & Newborn Screening

2019            Outstanding Faculty Award by Principal SMS Medical College, Jaipur, India

2016            Awarded “Dakshata Praman Patra” at SMS Medical College, Jaipur, India

2009            Silver medal in paper presentation at State Pediatric conference held at Jaipur, India

2009            Won Divisional round of 3rd IAP Pediatric quiz for PG`s held at Jodhpur, India

2005             Secured 1st rank in final M.B.B.S. in VIMS, Bellary, Karnataka, India

2005             Awarded as Best outgoing student in VIMS, Bellary, Karnataka, India

2005             Awarded certificate of Merit by The BDCCI

2005             Felicitated by Vice Chancellor, RGUHS (on doctor`s day, by IMA Bellary branch) 

2005             Awarded gold medal in for securing highest marks in pediatric medicine                           

2005             Awarded gold medal in for securing highest marks in OBG

2005             Won State round of 17th IAP Pediatric Quiz held at KIMS, Bangalore       

CERTIFICATE COURSES

2021            Basic Course in Biomedical Research

2021            Revised Basic Course Workshop in Medical Education Technology

2020            SSIEM Course – Inborn Errors of Metabolism 2020, New Delhi, India

2018            Tele ECHO, Albuquerque, New Mexico, USA

2017            SIMD NAMA Course, Chaska, Minneapolis, USA

2017            Attended 20th Summer school of myology at Institut de Myologie, Paris, France

2017            Online course on “Genomic and precision medicine” by University of California,

                    San Francisco, USA

2015            Attended 14th ICMR on medical genetics and genetic counselling at SGPGI,

                    Lucknow, India

2015            Rajasthan conclave-3 held at DMRC, Jodhpur, India

2013            Pediatric neurology Indo-Canadian CME held at Dr. S. N. Medical College, Jodhpur

PROFESSIONAL MEMBERSHIPS

2018-Present   SIMD-NAMA, USA

2017-Present   TREAT-NMD Alliance Neuromuscular Network, Europe

2017-Present   ISIEM (Indian Society for Inborn Error of Metabolism)

2012-Present   IMA (Indian Medical Association)

2011-Present   NNF (National Neonatal Forum), India

2007-Present   IAP (Indian Academy of Pediatrics)

PUBLICATIONS: Original Articles

  1. Khandelwal S, Mathur P, Gupta ML. Prevalence of obesity and overweight in private schools of Jaipur city in 11-17 year age group children. Sch. J. App. Med. Sci., 2016; 4(4D): 1428-1432
  2. Bhargava M, Mathur P. Correlation study of various factors with germinal matrix-intraventricular hemorrhage in preterm neonates. Sch. J. App. Med. Sci., 2016; 4(4C): 1297-1301
  3. Gurjar M, Gupta A, Mathur P, Saroj AK. Evaluation of nutritional & educational intervention as KAP and outcome of children with SAM (6 Months – 5 years) in malnutrition treatment center. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS); Volume 15, Issue 6 Ver. III (June. 2016), PP 43-48
  4. Mathur P, Jain PK, Gupta BD. Chloroquine vs co-artemether in uncomplicated malaria. Sch. J. App. Med. Sci., 2016; 4(6B): 1981-1985
  5. Chonsariya R, Gupta A, Garg M, Mathur P, Khan K, Agarwal A. Comparison of risk factors and early morbidity in late preterm neonates and term neonates. Sch. J. App. Med. Sci., 2016; 4(8D): 2996-3001
  6. Choudhary K, Mathur P, Garg M, Gupta PP. Prevalence of impaired glucose tolerance test and diabetes in overweight, obese and apparently healthy school going adolescents. Int J Contemp Pediatr 2017; 4: 1081-87
  7. Choudhary K, Mathur P, Garg M, Gupta PP. Prevalence of overweight and obesity amongst adolescents and identification of risk factors. Int J Contemp Pediatr 2017;4:1153-9.
  8. Bagri DR, Gupta RK, Mathur P. Assessment of parents and child’s attitude as barrier to dietary compliance in celiac disease. IOSR Journal of Dental and Medical Sciences (IOSR-JDMS); Volume 15, Issue 8 Ver. VI (August. 2016), PP 53-58
  9. Khan K, Garg M, Sharma SD, Mathur P, Agarwal A. Study on clinical presentations, risk factors and short term outcome of hemorrhagic disease of newborn. Sch. Acad. J. Biosci., 2016; 4(8): 671-675
  10. Bilwal R, Mathur P. Epidemiological study of HIV-AIDS in children of western Rajasthan. Paripex-Indian J of research 2018;7(3):147-148
  11. Bagri DR, Gupta RK, Mathur P. Psychosocial Impacts as Predictors of Compliance in Celiac Disease. Indian Journal of Clinical Practice; 2018 Dec: 29(7): 637-641
  12. Mathur P, Agarwal A, Goyal K, Mathur A. Mutation spectrum of Duchenne muscular dystrophy patients in Indian population. Indian J Child Health. 2020; June 15 [Epub ahead of print].
  13. Singh H, Devpura K, Gothwal S, Nangliya V. L., Mathur P, Agarwal A. Study of Post Phototherapy Serum Bilirubin Rebound Levels in Near Term and Term Neonates. Sch J App Med Sci. 2020; June 20: 1502-1509 (Open Access)
  14. Sharma A, Mathur P, Sharma J N, Gupta M, Agarwal A. Neonatal Sepsis – A Study of Predisposing Factors and Causative Organisms. Sch J App Med Sci. 2020;2256-2259 (Open Access)
  15. Sharma A, Mathur P, Agarwal A, Gupta M. A Study of Predisposing factors for Fungal Sepsis and Causative Organisms. Sch J App Med Sci. 2020;2246-2250 (Open Access)

 PUBLICATIONS: Case Reports

  1. Bagri DR, Gupta RK, Mathur P, Mittal R. Mermaid syndrome (sirenomelia): With use of mifepristone and misoprostol in early first trimester with failed medical abortion and continuing pregnancy in a multipara with bad obstetric history. Sch. J. App. Med. Sci., 2016; 4(5B): 1574-1576
  2. Bagri DR, Mathur P. P. vivax malaria: A rare cause of cholestatic jaundice in a neonate. Sch J Med Case Rep., 2016; 4(5): 315-317
  3. Pandit MS, Gupta A, Mathur P, Sharma M, Garg M. A case of Landau-Kleffner syndrome. J PediatrCrit Care 2016; 2: 61-63
  4. Gupta V, Gupta A, Mathur P, Sharma M, Garg M. Christ-seimmens-touraine syndrome (X-linked hypohidrotic ectodermal dysplasia). Sch J Med Case Rep., 2016; 4(6): 379-381
  5. Pandit MS, Gupta A, Mathur P, Sharma M, Garg M, Kumar R. A case report of Kartagener syndrome. Sch J Med Case Rep., 2016; 4(6): 409-411
  6. Gupta V, Gupta A, Mathur P, Sharma M, Garg M, Kumar R. A rare case of Wegeners granulomatosis with allergic bronchopulmonary aspergillosis in a child. J PediatrCrit Care 2016; 3
  7. Kumar R Gupta A, Mathur P, Sharma M, Garg M. Extensive mongolian spots: a clinical sign merits special attention for GM1-gangliosidosis. Int J Pediatr Res.2016; 3(7): 483-486
  8. Garg M, Gupta A, Mathur P, Sharma M, Kumar R, Gupta V, Manjunath M. A rare case of glycogen storage disease type XI Fanconi-Bickel syndrome. J Pediatr Crit Care 2016; 3
  9. Kumar R, Gupta A, Mathur P, Garg M. Factor XII deficiency – A rare coagulation disorder. Indian J Child Health 2016; 12
  10. Garg M, Kumar R, Mathur P, Gupta V. A case of atypical hemolytic uremic syndrome. Sch J Med Case Rep 2016; 4(7): 556-558
  11. Bansal N, Gupta A, Goyal M, Sharma M, Mathur P, Agarwal M. Oro facial digital syndrome type 2 – An Indian case report. J Pediatr Crit Care 2016; 3(4): 115-117
  12. Bagri DR, Sharma R, Mathur P. Autoimmune polyglandular syndrome Type IIIB associated with immune thrombocytopenia, leukopenia, beta thalessemia trait, and language impairment. J Diabetes Endocr Pract 2017; 1:9-11.
  13. Gupta A, Mathur P, Sharma M, Parmar V. A case report of hypertension-short stature-brachydactyly (bilginturan) syndrome. The Rajasthan Medical J 2017; 1: 25-27
  14. Goyal M, Gupta A, Sharma M, Mathur P, Bansal N. Fetal Valproate Syndrome with Limb Defects: An Indian Case Report.Case Rep Pediatr. 2016;3495910
  15. Goyal M, Gupta A, Mathur P, Sharma M. Hypohydrotic Ectodermal Dysplasia: A rare case series. Journal of pediatric critical care; 2018: Vol. 5 – No.1 Jan-Mar.
  16. Gupta A, Mathur P, Sharma M, Parmar V. A rare case of compound heterozygous B-thalassemia and hereditary persistence of fetal hemoglobin with Moya-Moya disease. Journal of Pediatric Critical Care; 2017; 4(3): 110-113
  17. Bagri DR, Jangid N, Sharma R, Mathur P. Pulmonary venous atresia-A rare and important etiology of reccurent LTRI. The RMJ 2018 Jan; 52-54
  18. Agarwal A, Goyal K, Mathur P, Minocha P, Bansal K, Mathur N. A rare mutation in alkaptonuria patient. Indian J Child Health. 2020; April 10
  19. Agarwal A, Goyal K, Mathur P, Mathur A. Encephalopathy due to mutation in mitochondrial fission factor gene. Indian J Child Health. 2020; 7(4):184-187
  20. Agarwal A, Goyal K, Mathur P, Mathur A. A Rare case of Sanfilippo syndrome type “C.” Indian J Child Health. 2020; May 09 [Epub ahead of print].
  21. Gopaal N, Sharma JN, Mathur P, Agarwal V, Jadoun L. Neurofibromatosis type-1 with seizures and cerebrovascular malformation: A case study . Int J Contemp Pediatr 2020;7:1933-6.
  22. Nagpal T, Agrawal K, Gupta A, Mathur P. Spinal muscular atrophy with progressive myoclonic epilepsy – rare case report from India. Int J Contemp Pediatr 2021;8:381-2.
  23. Srinivas RK, Gupta A, Mathur P, Agarwal K, A. An infant with hypertriglyceridemia presenting as failure to thrive: a case report. Int J Contemp Pediatr 2021;8:590-3.
  24. Gopaal N, Sharma JN, Agarwal V, Mathur P, Jadoun L. Congenital CMV Infection With CMV Pneumonitis’, International Journal of Current Medical and Pharmaceutical Research, 2020; 06(09), pp 5255-5258
  25. Agarwal A, Mathur P. Helsmoortel – Van Der AA Syndrome. International Journal of Scientific Research. March 2021: 10(03):2277 – 8179

POSTER PRESENTATIONS

  1. 2012 – Experience with BFM 95 protocol in acute leukemia in Asian children.
  2. 2014 – Breastfeeding status report – India
  3. SSIEM 2019 – Evaluating Mental Health Outcomes in Patient Reported Outcomes Measurements Information System (PROMIS) in PKU
  4. RajPedicon 2019 – RECURRENT VOMITING WITH ENCEPALOPATHY: THINK UREA CYCLE DEFECT (Won 1st prize)
  5. RajPedicon 2019 – MUTATION SPECTRUM OF DUCHENNE MUSCULAR DYSTROPHY (DMD) PATIENTS

Book published

  1. Co-Author of A Textbook – Rare Diseases in Pediatrics 1st edition printed in 2014
  2. Co-Author of A Textbook – Rare Diseases in Pediatrics 2nd edition printed in Feb 2016.
  3. Contributed Chapter on Metabolic disorders in “Partha`s Comprehensive Manual for Pediatric and Adolescent Practice”.
  4. Contributed Chapter on Metabolic Disorders (Chapter 19) – Partha’s Current Trends in Diagnosis and Management in Pediatric and Adolescent Practice (PCTDMPAP)
  5. Editor of Atlas on Rare Diseases

Journal Reviewer:

    1. Journal of Inherited Metabolic Disorders (JIMD)
    2. Indian Journal of Child Health (IJCH)
    3. Rajasthan Medical Journal (RMJ)
    4. BMC Medical Genomics

Journal Regional Editor:

  1. Archives of Practical Pediatrics

National Task Force Member:

  1. Guidelines for Management of SMA during COVID-19 pandemic and beyond.

Advisory Board Member:

  1. Rare Disease India Foundation
  2. “Finding Fabry”- A Virtual Advisory Board organized by Takeda India Medical Affairs
  3. Advisory board on Management of N-acetylglutamate synthetase (NAGS) deficiency (2019)

National Faculty:

  1. National 2nd TOT on Clinical Clues 2020 – IAP
  2. TOT – First Golden Minute 2010 – IAP
  3. Neonatal Resuscitation Program

ICMR Project – Approved

  1. Co-PI: ‘Optimizing the use of antibiotic for uncomplicated SAM management at community level’ (ID 2020-3387).

DBT Project – Approved

  1. PI: Establishment of DBTNIDAN Kendra for newborn screening of genetic disorders” [PR-40853]

Postgraduate Guide:

  1. Rajesh Reddy
  2. Mahantesh

Clinical Trials/Studies – Completed

  1. Clinical trial to evaluate the immunogenicity & safety of Td vaccine (M/s. CHL) vs. Td vaccine (M/s. BE) in healthy subjects. Project No. 19-07 Version No. 01 Date: 20/05/2020

Clinical Trials/Studies – Current

  1. A Prospective, Open-label, Multicentre, Interventional, Single-arm, Phase IV Study to Evaluate the Safety and Efficacy of Agalsidase alfa (r-DNA origin) (Replagal™) in Indian Children and Adults with Fabry Disease.
  2. An active post-marketing surveillance study to evaluate the safety and immunogenicity of ZyVac TCV of M/s. Cadila Healthcare Limited in healthy Subjects. Project No. : 21-09 Protocol Version No. : 00 Protocol Date : 20/08/202

 

 

Dr. Priyanshu Mathur is a well-known Pediatric Rare and Metabolic Genetic diseases consultant in Jaipur, Rajasthan. He is an outstanding student from the beginning and has an excellent academic record. After his schooling at Jaipur, he completed MBBS from Vijayanagar Institute of Medical Sciences, Bellary, Karnataka. He was adjudged the best outgoing student of the year and awarded gold medal in Pediatrics. Being a passionate learner, he pursued post-graduate studies leading to MD (Pediatrics) from Dr. S. N. Medical College Jodhpur with gold medal. He was awarded by Honorary Doctorate in Genetics by International Internship University in 2021 for his exemplary work in area of Genetics.

He worked as a visiting assistant professor and did his one year training in metabolic genetics and newborn screening at the department of Human Genetics, Emory University School of medicine, Atlanta, Georgia, USA. He received training in myopathies and neuromuscular disorders from Institut de Myologie, Paris, France. He completed Indian Council of Medical Research Course in “Medical Genetics and Genetic Counseling” at Sanjay Gandhi Post Graduate Institute, Lucknow. He received training in the area of Inborn Errors of Metabolism by Society of Inherited Metabolic Disorders – North American Medical Academy.

Currently, he is working as Associate Professor of Pediatric Medicine in JK Lone hospital, SMS Medical College, Jaipur and taking care of Rare Disease Patients. He is also a keen researcher with more than fifty publications in national and international journals to his credit. He is reviewer of 5 journals including 2 international journals (JIMD and BMC Genomics). He is also co-author of the book “Rare Diseases in Pediatrics” and “Atlas on Pediatric Rare Disorders”. He has written chapters in 5 books and is invited speaker in more than 100 seminars/conferences/webinars. He has a particular interest in Pediatric Rare Disorders, Neuromuscular disorders, Metabolic Genetic Disorders and newer therapies for Genetic disorders.