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Kumar, R. K.
- Lissencephaly-'Who Should be Diagnosing It?'
Authors
1 Cloudnine Hospitals, IN
2 Cloudnine Hospitals, Bangalore, IN
Source
The Indian Practitioner, Vol 69, No 9 (2016), Pagination: 25-27Abstract
Lissencephaly is a rare congenital developmental brain disorder resulting from defect in neuronal migration, leading to a characteristic marked reduction or absence of the convolution pattern of the cerebral hemispheres. The paucity in the development of brain gyri and sulci is due to defective neuronal migration during 10-14 weeks. We report a lissencephaly case, in 33 weeks+5days twins with refractory seizures and review the literature regarding the same.Keywords
Lissencephaly, Neuronal Migration.References
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- Newborn Screening: Saves Lives-Why is India Lagging behind in Implementing Newborn Screening?
Authors
1 Cloudnine Hospitals, Bangalore, IN
2 Cloudnine Hospital, Chennai, IN
Source
The Indian Practitioner, Vol 70, No 3 (2017), Pagination: 28-31Abstract
Newborn screening (NBS) is performed to identify genetic and biochemical disorders which cannot be identified clinically by routine examination after birth. Very few studies are available from India on the incidence of various disorders that are routinely identified by NBS. We present here the data from our database.
Methods: In this retrospective study, we collected data from our NBS database. We included all infants in the study for whom NBS was performed.
Results: We performed 48,600 tests over a period of 10 years. Among these, 1979 (4.1%) were found to be abnormal. Repeat testing was required in 98 (0.2%) of the cases. We found the incidence of congenital hypothyroidism, congenital adrenal hyperplasiaand G6PD deficiency were 1.2, 0.3 and 20 per 1000 live births respectively. Among the inborn errors of metabolism, the common disorders were Methymalonic academia (MMA) secondary to maternal vitamin B12 deficiency (5 per 1000) and transient tyrosinemia (1.1 per 1000).
Conclusion: Newborn screening saves lives. It has been shown to be effective in preventing handicap around the world and many countries have programmes on newborn screening for over 5 decades. In our study, had we not screened, we would have contributed 1055 children to mental retardation (958 G6PD deficiency and 57 children with congenital hypothyroidism) and probably would have lost another 100 babies who would have become statistics in India and 17 babies from our centres would have contributed to our Hijra population.
Keywords
Newborn Screening (NBS), Congenital Hypothyroidism (CHT), Congenital Adrenal Hyperplasia (CAH), Glucose-6- Phosphate Dehydrogenase Deficiency (G6PD Def).References
- Boyle CA, Bocchini Jr JA, Kelly J. Reflections on 50 years of newborn screening. Pediatrics. 2014;133:961–3.
- Wilson JMG, Jungner G. Principles and practice of screening for disease. World Health Organization Public Health Papers, No. 34; 1968. http://whqlibdoc. who.int /php/ WHO_PHP_34.pdf. Accessed on September 28, 2014.
- Bradford L. Therrell, Carmencita D. Padilla, Gerard Loeber, IssamKneisser, AmalSaadallah et al. Current Status of newborn screening worldwide 2015. Seminars in Perinatology 2015; 39: 171 – 187.
- N.Nagar, Kishore Kumar R. Challenges in implementation of universal neonatal screening in India: P56 – Poster presentation @ NNF, Pune 13-16th Dec 2007.
- Dr R. Kishore Kumar, Karambir Sing Gill, Shekar Subbaiah, Gauri Krishna. Significance of Newborn Screening for Citrullinaemia. Perinatology 2015; 16 (2): 85-87.
- R. Kishore Kumar, Ranieri E, Fletcher J. Newborn screening for congenital hypothyroidism in India is overdue. J Neonatal Biol. 2014;3:129.
- Dutta R. ICMR to conduct first nationwide newborn screening for genetic disorders. Express healthcare Management. 1st to 15th Sept 2005.
- R. Kishore Kumar, Hari Das, Prakash Kini. Newborn Screening for Congenital Adrenal Hyperplasia in India: What do we need to watch out for? J Obs&Gyanec India. 2016; 66 (6): 415-9.
- N Nagar, Kishore Kumar R. Is Newborn Screening by TMS relevant to India? P55 - Poster presentation at NNF, Pune 13-16th Dec;2007.
- R. Kishore Kumar, Nagar N, Ranieri E. Newborn screening for G6PD deficiency- why is it important for India? Indian J Pediatr. 2014;81: 90–1.
- R. Kishore Kumar, Piyush Shah & Syed Tejamul. Galactosaemia – The Cause of Gram Negative Neonatal Sepsis. BAOJ Pediatrics; 2016: 2 (2): 006-7.
- R. Kishore Kumar, Piyush Shah, Ramya A.N., Ramani Ranjan. Diagnosing Developmental Dysplasia of Hips in Newborns using Clinical Screen and Ultrasound of Hips – An Indian experience. Journal of Tropical Pediatrics, 2016, 0, 1–5 doi: 10.1093/tropej/fmv107
- Dr R. Kishore Kumar, Dr Lakshmy Menon, Dr Nandini Nagar, Dr AshwiniKawale, Dr Suma.A.R. Analysis of cord blood gas – a prospective study – an Indian experience. J Ind Chapter RCPI; 2016: Jan: 14 – 21.
- IC Verma, S Bijarnia-Mahay, G Jhingan, J Verma. Newborn Screening: Need of the hour in India. Indian J Pediatr 2015; 82(1): 61-70.