Genetic disorders are diseases caused due to an abnormality in an individual's genetic makeup which affect an individual for life and can rarely be treated. The aim of the study was to understand the phenotypic and behavioural characteristics and constitutive genetic abniormalities in Down syndrome and autistic children through conventional cytogenetic technique. A total of twenty cases were counselled and recruited for the present study. The peripheral blood samples were cultured in complete nutrient medium for chromosome analysis, including karyotyping, and assessment of micronucleus and apoptosis. G- banding analysis of 25 metaphases in classified form detected the constitutive aberrations and study of 1000 cells enumerated the frequencies of micronucleated and apoptotic cells. Chromo- somally all DS children had trisomy 21, and all autistic children had normal karyotypic constitution. The micronuclei count and apoptosis appeared higher in Down syndrome than that of autism, which indicates higher genetic instability and risk of neoplasia. Identification of the genetic etiology and relevant counselling would be helpful for the parents of the genetically impaired children for better understanding of the present and future health, and be better equipped emotionally.

[ABSTRACT]   Full text not available  [PDF]

Introduction: Birth weight is not only a critical determinant of child survival, growth and development but also a valuable indicator of maternal health, nutrition and quality of life. LBW is closely associated with fetal and perinatal mortality and morbidity. The various risk factors related with term low birth weight neonates have been a subject of various studies in India. The present study was undertaken to understand the current situation of various maternal determinants which influence the birth weight of newborn in this part of country. Materials and Methods: A hospital based cross sectional study was done over a period of one year. 400 term neonates were selected randomly, out of them 165 were LBW and 235 were NBW. Various maternal characteristics including age, nutritional status (height, weight, haemoglobin) were noted. Data was analysed using Graph pad Instat software. P value < 0.05 was considered to be significant. Results: Out of total 400 term neonates studied, 165 were LBW and remaining 235 were NBW. Maternal factors found significantly associated with term low birth weight babies were age, weight and anaemia. Conclusion: Almost all the identified factors in our study are modifiable and thus preventable. Integrated approach incorporating medical, social, economical and educational measures to improve the overall health status of the women are needed to reduce the problem of LBW in India.

[ABSTRACT]   Full text not available  [PDF]

Congenital candidiasis (CC) is an extremely rare disease with less than 100 cases being reported in the literature. It presents within six days of life with manifestations ranging from localized skin disease to systemic involvement in the form of respiratory distress, sepsis with hepatospe- nomegaly, and death. We report a neonate who presented with diffuse pustular eruption on erythematous background involving head,face, trunk, and palms at birth. Candida albicans was identifi ed in 10% potassium hydroxide (KOH) smear and culture from the pustules. Intrauterine infection by candida may give rise to this condition and it differs from neonatal candidiasis, which manifests as thrush or diaper dermatitis. Intravenous fl uconazole and topical ketoconazole were given and the condition improved completely in two weeks. CC is rare and needs to be differentiated from other conditions presenting with pustular lesions at birth in order to avoid complications. Early diagnosis and prompt treatment of this condition is important as untreated cases carry a significantly high mortality rate of 8-40%.

[ABSTRACT]   Full text not available  [PDF]

In a developing country like India, maternal nutrition and their health status has always been a point of concern. There are doubts regarding the quantity and quality of milk that they provide to their offsprings. Scanty data that we do have regarding this topic, is many decades old and might not hold true in today's age. This study compared the quality of breast milk on day 3, of mothers. This qualitative analysis of milk was then correlated to the maternal nutritional status. We found that, the breast milk composition is fairly constant and is not affected by maternal nutrition, or dietary intake.

[ABSTRACT]   Full text not available  [PDF]

Background: Seizure is the manifestation of abnormal brain electrical activity that causes momentary alteration of behavior and consciousness. Thus in this present study, the etiology of childhood seizures has been established with the help of structural neuro-imaging. Methods: The Case-Control Study was performed on 96 children of age group 1 month - 5 years presenting with seizures in the Pediatric department of Institute Of Child Health, Kolkata for a period of one and a half years. Results: The study showed 23 out of 96 cases (42.59%) had seizures due to an infectious etiology. 11 out of 96 cases (20.37 %) suffered seizures because of developmental/ congenital brain lesions. Perinatal causes ranked next highest (12.96%) Conclusions: we have established that neuro- imaging specially MRI had an incredible role to play in the etiological diagnosis of childhood seizures. There was a strong association between positive neurological signs and symptomatic seizure.

[ABSTRACT]   Full text not available  [PDF]

Objective: To assess and compare the Neuro developmental outcome at six months of age in healthy term and late preterm (34/0-36/6 wks) neonates. Design of study: Prospective cohort study Study setting- This study is conducted in Pt JNM Medical College and Dr B.R. Ambedkar Memorial Hospital, Raipur, Chhattisgarh Materials & Methods-Over a period of one year (May 2016 to April 2017), 177 healthy term and 177 late preterm neonates without any perinatal insult were included in the study. Gestational age was assessed using the modified New Ballard score and Neurodevelopmental assessment is done using Denver's II scale. At six months of age, three test in each domain of mile stone, nearest to and totally to the left of the age line (6 month) in the DDII chart were administered . Infants who were unable to perform at least two items nearest to and totally to the left of the age line were considered as neurodevelopmentally delayed. The data was tabulated using the SSPS version of Microsoft Excel. Both the groups preterm and terms were compared and Odds Ratio at 95% CI was calculated for each developmental test administered. Level of significance was calculated using bivariate logistic regression. Results: Late Preterm neonates have higher odds of neurodevelopmental delay as compared to termneonates. (OR4.14 at CI 95%) Conclusion: The neurodevelopmental outcome of healthy term babies is better than the late preterm at six months and provides opportunity for early intervention programming. Long term outcome requires further follow up.

[ABSTRACT]   Full text not available  [PDF]

Anti-N-methyl D-aspartate receptor (anti- NMDAR) encephalitis, recently recognized as a form of paraneoplastic encephalitis, is characterized by a prodromal phase of unspecific illness with fever that resembles a viral disease. The prodromal phase is followed by seizures, disturbed consciousness, psychiatric features, prominent abnormal movements, and autonomic imbalance. Here, we report a case of anti-NMDAR encephalitis with initial symptoms of epilepsia partialis continua in the absence of tumor. A 6- years-old girl was admitted to the hospital with complaint of right-sided, complex partial seizures without fever. The seizures evolved into epilepsia partialis continua and were accompanied by epileptiform discharges from the bilateral hemispheres. Three weeks after admission, the patient's seizures were reduced with antiepileptic drugs; however, she developed sleep disturbances, behaivoural abnormalities, cognitive decline, insomnia and mutism. Anti-NMDAR encephalitis was confirmed by clinical findings of the child and her condition slowly improved with methylpredni- solone. Moreover, the patient showed gradual improvement of behavioural and cognitive function. This case serves as an example that a diagnosis of anti-NMDAR encephalitis should be considered even with low titres of Anti NMDAR antibodies being positive but with uncontrolled seizures, insomnias and mutism without evidence of malignant tumour.

[ABSTRACT]   Full text not available  [PDF]

There is a dramatic reduction of IMR (Infant Mortality Rate) in past two decades in India. Neonatal mortality which was 41% of under five deaths in 1990 have increased to 56% by 2012 with largely invisible still births. The average annual reduction of early NMR is 2.8% from 2000 to 2012 where as Late NMR and Post NMR has reduced almost double of early NMR. About 72.92% neonatal deaths occur in the 1st week of life. 97.8% of deaths due to Asphyxia 74.8% death due to Prematurity and 50% neonatal deaths from sepsis occur in 1st week. Much of the deaths in 1^st 24 hours or 1^st week is due to the Prolongation of adverse Perinatal events. Still birth rate of 23/1000 live births speaks of the pregnancy wastage. Care of the mother, safe delivery practices and prophylactic antibiotics to the new born will reduce the 1st week neonatal mortality.

[ABSTRACT]   Full text not available  [PDF]

Full text not available  [PDF]

Full text not available  [PDF]

Full text not available  [PDF]