Nodding Syndrome - an Indian case

Background: Although nodding syndrome is a catastrophic epileptic encephalopathy, it is reported only from Africa so far. We describe the first case from the Indian sub-continent.Methods: A ten-year-old child who had an episode of Guillain Barre syndrome with incomplete recovery developed emaciation secondary to bulbar palsy and depression. Subsequently, nine months later she developed head nodding, spastic quadriparesis, choreo-athetoid movement disorder, global aphasia and depression. She improved with sodium valproate, nutritional rehabilitation and anti-spasticity and anti-depressant medications.Results: First case of nodding syndrome is described from India where possible etiology is malnutrition. She had anemia, her electroencephalography revealed parieto-occipital inter-ictal epileptiform discharges and Magnetic Resonance Imaging showed diffuse cerebral atrophy.Conclusion: Nodding syndrome is an epileptic encephalopathy of nutritional origin beyond geographical barriers but amenable to anti-convulsants and nutritional rehabilitation.Keywords: Nodding syndrome, India

Nodding syndrome- an Indian case

Background: Although nodding syndrome is a catastrophic epileptic encephalopathy, it is reported only from Africa so far. We describe the first case from the Indian sub-continent. Methods: A ten-year-old child who had an episode of Guillain Barre syndrome with incomplete recovery developed emaciation secondary to bulbar palsy and depression. Subsequently, nine months later she developed head nodding, spastic quadriparesis, choreo-athetoid movement disorder, global aphasia and depression. She improved with sodium valproate, nutritional rehabilitation and anti-spasticity and anti-depressant medications. Results: First case of nodding syndrome is described from India where possible etiology is malnutrition. She had anemia, her electroencephalography revealed parieto-occipital inter-ictal epileptiform discharges and Magnetic Resonance Imaging showed diffuse cerebral atrophy. Conclusion: Nodding syndrome is an epileptic encephalopathy of nutritional origin beyond geographical barriers but amenable to anti-convulsants and nutritional rehabilitation

Pax2 overexpression and regulation studies in vertebrate eye

Pax2 is a member of the Paired Bo x family of transcription factors and plays a pivotal role in eye, ear, spinal cord and kidney development. Loss-of-Pax2 expression has been linked with various developmental and functional abnormalities such as coloboma in the eye and Wilm\u27s tumor in the kidney. In the following studies we attempted to analyze the role of Pax2 in the eye and mechanism of regulation by SHH and BMP7. Pax2 loss-of-expression has been associated with lack of choroid fissure closure, referred to as a Coloboma. Coloboma also results from downregulation of genes like Shh and Vax. In this study we determined that the ectopic Pax2 expression the in ventral optic cup phenocopies loss of Pax2 expression. The underlying mechanism of coloboma formation is very different in Pax2 overexpression as compared to the Pax2 loss-of-expression. In this study, Pax2 overexpression lead to a cell fate change from retinal and retinal pigmented epithelium cells (RPE) to glial cells. The presence of ectopic astrocytes and their processes interfere with the choroid fissure, leading to a coloboma whereas in Pax2 loss-of-expression, the basal laminae that separate the two opposing lips of choroid fissure fails to break, leading to a defect in choroid fissure closure. In addition to coloboma formation, we determined that Pax2 overexpression in RPE leads to secondary neural retina formation adjacent to the Pax2-electroporated region and that the ectopic retina overexpresses Fgf8. In this study, we also analyzed the regulation of Pax2 by SHH and BMP7 in astrocytes derived from retina. BMP7 and SHH have been shown to regulate Pax2 but the mechanism is not understood. We determined that BMP7 and SHH activate both PAX2 and phospho-PAX2 in retinal derived astrocytes. In addition, SHH acts upstream of BMP7 and, BMP7 and SHH decrease the binding of TLX (a repressor of Pax2) on the Pax2 promoter. Furthermore, phospho-SMAD1 and GLI2, the downstream targets of BMP7 and SHH signaling respectively, directly interact with TLX. Together this data reveals a new mechanism for the synergistic actions of signaling pathways in retinal cell determination and differentiation and suggest interactions of regulatory pathways that are applicable to other developmental programs

Neonatal transport in India: From public health perspective

Transport of sick newborns is undergoing massive changes in India. Over past few years, specialized transport has been activated in most of the states although out of pocket expenditure and absence of health personnel in the ambulance are still posing hurdles. With gradual expansion of all-weather roads to the furthest corner of the country and introduction of free transport for all neonates, it brings opportunities for us to reach all the sick newborns to the nearest equipped hospital at the earliest. Telecommunication and presence of health personnel during transport and training on life support are other initiatives boosting health care of the neonates during transport. Thus, improved transport could be a solution for reduction of stagnant neonatal mortality in India

Mortality in newborns referred to tertiary hospital: An introspection

Background: India is one of the largest contributors in the pool of neonatal death in the world. However, there are inadequate data on newborns referred to tertiary care centers. The present study aimed to find out predictors of mortality among newborns delivered elsewhere and admitted in a tertiary hospital in New Delhi between February and September 2014. Materials and Methods: Hospital data for were retrieved and analyzed for determining predictors for mortality of the newborns. Time of admission, referral and presenting clinical features were considered. Results: Out of 1496 newborns included in the study, there were 300 deaths. About 43% deaths took place in first 24 hours of life. Asphyxia and low birth weight were the main causes of death in early neonatal period, whereas sepsis had maximum contribution in deaths during late neonatal period. Severe hypothermia, severe respiratory distress, admission within first 24 hours of life, absence of health personnel during transport and referral from any hospital had significant correlation with mortality. Conclusions: There is need for ensure thermoregulation, respiratory sufficiency and presence of health personnel during transport