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Background: Multi-minicore disease is a rare form of myopathy characterized by slowly progressive or nonprogressive muscle weakness and characteristic multiple cores within the muscle fibers. To the best of our knowledge, this is first documentation of the clinicopathological features of this rare entity from India.Materials and Methods: A ll cases of multi-minicore disease diagnosed in our laboratory were retrieved. Clinical and pathological features were reviewed.Result: During a period of two years (January 2004 to December 2005), we received 985 muscle biopsies for various reasons. Of which, 15 were diagnosed as myopathies and four of which were of multi-minicore disease. Thus, multi-minicore disease comprises 0.40% of all muscle diseases and 26.6% of all myopathies. All were male and presented in early childhood (first decade of life) with generalized hypotonia and muscle weakness. All of them had dysmorphic facies and three had high arched palate. CPK levels were normal and EMG was myopathic except in one patient. Microscopic examination revealed minimal changes with Type I fibers' predominance but characteristic multiple cores in the myofibers. Ultrastructural examination showed both structured and unstructured cores.Conclusions: Multi-minicore disease, although a rare form of myopathies, should be suspected in children who present with generalized hypotonia and slowly progressive muscle weakness along with dysmorphic facies. [ABSTRACT FROM AUTHOR]

When a child is diagnosed with epilepsy, counseling regarding the same is done by the treating doctor. Most parents are frightened and have poor knowledge about epilepsy. Therapeutic advice including drug dosage, administration and side effects takes up the major part of physician's time, thereby neglecting important issues like home seizure management, follow up and others. These lacunae in knowledge require systematic patient and family education. To address these issues, an expert group meeting of pediatric neurologists and epileptologists in India along with social workers/epilepsy educators, legal experts, parents, and teachers was held. The various aspects regarding parental counseling in children with epilepsy were discussed and a consensus document was formulated. Here authors present the group consensus statement on counseling parents and caregivers of children with epilepsy. This document is intended to help physicians and pediatricians counsel the families when a child is diagnosed with epilepsy.

Background: Neurodevelopmental disorders (NDDs) compromise the development and attainment of full social and economic potential at individual, family, community, and country levels. Paucity of data on NDDs slows down policy and programmatic action in most developing countries despite perceived high burden., Methods and Findings: We assessed 3,964 children (with almost equal number of boys and girls distributed in 2-<6 and 6-9 year age categories) identified from five geographically diverse populations in India using cluster sampling technique (probability proportionate to population size). These were from the North-Central, i.e., Palwal (N = 998; all rural, 16.4% non-Hindu, 25.3% from scheduled caste/tribe [SC-ST] [these are considered underserved communities who are eligible for affirmative action]); North, i.e., Kangra (N = 997; 91.6% rural, 3.7% non-Hindu, 25.3% SC-ST); East, i.e., Dhenkanal (N = 981; 89.8% rural, 1.2% non-Hindu, 38.0% SC-ST); South, i.e., Hyderabad (N = 495; all urban, 25.7% non-Hindu, 27.3% SC-ST) and West, i.e., North Goa (N = 493; 68.0% rural, 11.4% non-Hindu, 18.5% SC-ST). All children were assessed for vision impairment (VI), epilepsy (Epi), neuromotor impairments including cerebral palsy (NMI-CP), hearing impairment (HI), speech and language disorders, autism spectrum disorders (ASDs), and intellectual disability (ID). Furthermore, 6-9-year-old children were also assessed for attention deficit hyperactivity disorder (ADHD) and learning disorders (LDs). We standardized sample characteristics as per Census of India 2011 to arrive at district level and all-sites-pooled estimates. Site-specific prevalence of any of seven NDDs in 2-<6 year olds ranged from 2.9% (95% CI 1.6-5.5) to 18.7% (95% CI 14.7-23.6), and for any of nine NDDs in the 6-9-year-old children, from 6.5% (95% CI 4.6-9.1) to 18.5% (95% CI 15.3-22.3). Two or more NDDs were present in 0.4% (95% CI 0.1-1.7) to 4.3% (95% CI 2.2-8.2) in the younger age category and 0.7% (95% CI 0.2-2.0) to 5.3% (95% CI 3.3-8.2) in the older age category. All-site-pooled estimates for NDDs were 9.2% (95% CI 7.5-11.2) and 13.6% (95% CI 11.3-16.2) in children of 2-<6 and 6-9 year age categories, respectively, without significant difference according to gender, rural/urban residence, or religion; almost one-fifth of these children had more than one NDD. The pooled estimates for prevalence increased by up to three percentage points when these were adjusted for national rates of stunting or low birth weight (LBW). HI, ID, speech and language disorders, Epi, and LDs were the common NDDs across sites. Upon risk modelling, noninstitutional delivery, history of perinatal asphyxia, neonatal illness, postnatal neurological/brain infections, stunting, LBW/prematurity, and older age category (6-9 year) were significantly associated with NDDs. The study sample was underrepresentative of stunting and LBW and had a 15.6% refusal. These factors could be contributing to underestimation of the true NDD burden in our population., Conclusions: The study identifies NDDs in children aged 2-9 years as a significant public health burden for India. HI was higher than and ASD prevalence comparable to the published global literature. Most risk factors of NDDs were modifiable and amenable to public health interventions., Competing Interests: The authors have declared that no competing interests exist.

We conducted a prospective interventional study to evaluate the role of endoscopic endonasal dacryocystorhinostomy in children. Our study population was made up of 20 patients-18 boys and 2 girls, aged 2 to 12 years (mean: 5.3)-who presented with signs and symptoms suggestive of nasolacrimal duct blockage that was refractory to conventional medical treatment. In all cases, blockage was confirmed by nasolacrimal duct syringing that demonstrated regurgitation from the opposite punctum. The primary outcome measures for success were resolution of symptoms and duct patency on lacrimal irrigation. At 6 months, 17 patients (85%) experienced complete symptomatic relief, 1 (5%) had partial relief, and 2 (10%) reported no relief. Moreover, the nasolacrimal duct was patent in 17 patients, partially patent in 2, and blocked in 1. We conclude that endoscopic endonasal dacryocystorhinostomy is a safe and effective procedure in children with nasolacrimal duct blockage when medical therapy and probing have been unsuccessful.

This study was undertaken in view of paucity of data regarding the profile of prothrombotic factors in children with ischemic stroke. Sixty-four children with ischemic stroke were prospectively evaluated for prothrombotic factors over a 2 year period. The blood samples were analyzed for protein C (PC), protein S (PS), activated protein C resistance (APCR), factor V Leiden (FVL), anti-thrombin-III (AT-III), lipoprotein (a) [Lp(a)], lupus anticoagulant (LA), anti-cardiolipin antibodies (aCL) immunoglobulin (Ig) M and IgG, homocysteine, and methylenetetrahydrofolate reductase (MTHFR) at least 3 months after the onset of stroke. At least one prothrombotic factor was identified in 45.3% children (29/64). These included hyperhomocysteinemia (11/64), PC deficiency (9/64), aCL (8/64), PS deficiency (5/64), APCR (3/64), AT-III deficiency (2/64) and LA (1/64). Multiple factors were coexistent in 17.2% (11/64). The prevalence of PC deficiency, PS deficiency and co-existence of multiple abnormalities observed were similar to the published literature. Elevated Lp(a) and APCR were less prevalent. FVL and MTHFR were not seen in any of the study children. Forty-five percent of children had at least one prothrombotic abnormality. Hyperhomocysteinemia, PC deficiency, aCL and PS deficiency were the most frequent prothrombotic abnormalities., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Objectives: The use of leaded petrol was prohibited in the Delhi city by the end of 1998. To determine the impact of use of unleaded petrol, this cross-sectional study was conducted to determine blood lead levels in primary school children., Methods: Blood lead levels were estimated in 300 school children aged 6 to 10 y. The data regarding clinical features and putative risk factors for high blood lead levels was also collected., Results: Of the 300 children, 36 (12 %) had high blood lead levels. Of the 36 children, 32 had blood lead levels between 10 and 19 μg/dl, 4 had 20-44 μg/dl and none had levels >45 μg/dl. Factors such as exposure to peeling paint, recent renovation of housing and near-distance of house to main road were significantly associated with high blood lead levels., Conclusions: There is significant prevalence of high blood lead levels in school children in Delhi, even after with prohibition of use of leaded petrol.

Medical college faculty, who are academicians are seldom directly involved in the implementation of national public health programmes. More than a decade ago for the first time in the global history of tuberculosis (TB) control, medical colleges of India were involved in the Revised National TB Control Programme (RNTCP) of Government of India (GOI). This report documents the unique and extraordinary course of events that led to the involvement of medical colleges in the RNTCP of GOI. It also reports the contributions made by the medical colleges to TB control in India. For more than a decade, medical colleges have been providing diagnostic services (Designated Microscopy Centres), treatment [Directly Observed Treatment (DOT) Centres] referral for treatment, recording and reporting data, carrying out advocacy for RNTCP and conducting operational research relevant to RNTCP. Medical colleges are contributing to diagnosis and treatment of human immunodeficiency virus (HIV)-TB co-infection and development of laboratory infrastructure for early diagnosis of multidrug-resistant and/or extensively drug-resistant TB (M/XDR-TB) and DOTS-Plus sites for treatment of MDR-TB cases. Overall, at a national level, medical colleges have contributed to 25 per cent of TB suspects referred for diagnosis; 23 per cent of 'new smear-positives' diagnosed; 7 per cent of DOT provision within medical college; and 86 per cent treatment success rate among new smear-positive patients. As the Programme widens its scope, future challenges include sustenance of this contribution and facilitating universal access to quality TB care; greater involvement in operational research relevant to the Programme needs; and better co-ordination mechanisms between district, state, zonal and national level to encourage their involvement.

Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled. We developed a rapid restriction fragment length polymorphism method to screen a common mutation, c.135&#95;136insC. Rare and novel mutations were screened by conformation-sensitive gel electrophoresis, followed by sequencing. Three previously reported and two novel mutations were identified in 37 patients. The presence of the c.135&#95;136insC mutation in 29 patients of the Agarwal community suggests a founder effect. The mutation c.959C>A was evident in four patients, and appears to be the second commonest mutation. Genotype could not predict phenotype. We recommend screening for the commonest mutation (c.135&#95;136insC), followed by the next commonest mutation (c.959C>A), and then other rare mutations, using conformation-sensitive gel electrophoresis analysis or direct sequencing., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in arylsulfatase A (ARSA) gene. No work on molecular genetics of MLD has been reported from India and the mutational spectrum in Indian patients is not known. The present study was undertaken to identify mutations in arylsulfatase A gene in Indian MLD patients, to evaluate genotype-phenotype correlation, and to see the effect of the novel mutants on the protein. Twenty MLD patients (16 families) were screened by ARMS PCR for the most common mutation (c.459+1G>A). Pseudodeficiency alleles were tested by RFLP method whereas rare and novel mutations were scanned by Conformation Sensitive Gel Electrophoresis (CSGE), followed by sequencing. The genotype-phenotype correlation was also attempted. Protein homology modeling analysis was carried out for two novel missense mutations identified, to assess the effect of these mutations on the protein conformation. Nine pathogenic alleles were found in 13 patients (65%). Four previously reported mutations and five novel variants were identified. Five patients (35%) were found to have pseudodeficiency alleles, c.1049A>G (p.Asn350Ser) and c.1524+95A>G. Genotype-phenotype correlation was found to be difficult to establish. Protein modeling studies showed that the mutations cause loss of interactions leading to conformational change in ASA protein. The study identified the mutational spectrum of Indian MLD patients, which will be helpful in genetic counseling, carrier detection and establishing prenatal diagnosis. Homology modeling helped to study conformational change in protein and has implications in generating novel therapeutic molecules., (Copyright © 2010 Elsevier B.V. All rights reserved.)

Objective: To identify pyridoxine responsive seizures among children with early onset intractable seizures, and to identify pyridoxine-dependency as a subset in this group., Methods: Patients with neonatal onset idiopathic, intractable seizures were identified over a 6-month period and subjected to a 'pyridoxine trial', at the Pediatric Neurology Clinic of a tertiary-care teaching hospital in New Delhi, India. This consisted of an intravenous infusion of 100 mg of pyridoxine over 10-min with a simultaneous EEG monitoring. This procedure was carried out in the EEG laboratory with all appropriate precautions (including availability of resuscitation equipment and trained personnel). Continuous EEG monitoring was done throughout the infusion and till 20 min later, to look for correction of EEG abnormalities. All patients were then prescribed oral pyridoxine, 10-15 mg/kg/day divided TDS for 6 weeks, in addition to their current anticonvulsant therapy. Patients were reviewed every 15 days regarding compliance and change in seizure frequency. A reduction in seizure frequency by 50% of the baseline was considered as 'response' (significant change), meriting further continuation of pyridoxine therapy. In patients who remained seizure free on pyridoxine therapy, previous anti-epileptics were gradually tapered one by one., Results: 621 children with active epilepsy were seen at the PNC, of which 48 had early-onset, medical intractable epilepsy, and 21 children (13 males and 8 females), aged between 11 month and 38 month were enrolled. The median age at onset of seizure was 5.1 months. The major seizure type was focal in 3 and generalized in 18 (including infantile spasm in 11). No patient had normalization of EEG during the 'trial'. Two patients (9.5%) had a response during the 2 weeks of oral treatment and oral therapy was continued. No toxicity or side-effects of pyridoxine were observed in these two patients over a follow-up of more than 18 months., Conclusions: Pyridoxine responsive seizures contribute a significant proportion to early-onset idiopathic intractable epilepsy in childhood. Routine use of pyridoxine in the management of early onset resistant seizures would go a long way in identifying these patients early.

The study was planned to assess and compare immunogenicity and safety of an indigenous DTPw-Hib combination vaccine (Shan 4) with EasyFour, the available DTwP-Hib vaccine in India. Overall 210 healthy infants, six to eight weeks of age, were randomized to receive three doses of either Shan 4 or EasyFour at 6, 10 and 14 weeks of age. Antibodies were analyzed prior to and four to six weeks post third vaccine dose. Solicited and unsolicited local and systemic events in the follow up period after each dose were recorded. Post vaccination 100% of the infants in Shan 4 and EasyFour groups had seroprotective concentrations of Anti PRP-T IgG antibodies, IgG anti-diphtheria toxoid antibodies and IgG anti-tetanus toxoid antibodies. Following third dose of vaccination 86.99% subjects in the Shan 4 group and 73.85% subjects in the EasyFour group seroconverted for anti-pertussis antibody titres. Two Serious Adverse Events (SAE s) were reported during the course of the study, all unrelated to the respective vaccine administered. Most commonly reported adverse events in both the groups were pain at injection site, mild fever (<103°F) and minor swelling at injection site. The study proved that Shan 4 was safe and immunogenic compared to the available licensed vaccine.

Poliomyelitis, though eradicated from most parts of the world, continues to occur in India. There is paucity of data on the magnetic resonance imaging (MRI) changes in poliomyelitis. We report a 3(1/2)-year-old boy who presented with subacute onset flaccid paralysis and altered sensorium. Stool culture was positive for wild polio virus type 3. Magnetic resonance imaging revealed signal changes in bilateral substantia nigra and anterior horns of the spinal cord. These MRI changes may be of potential diagnostic significance in a child with poliomyelitis.

A prospective case-control study was conducted to determine the association between Campylobacter jejuni infection and childhood Guillain-Barré syndrome in the Indian population. We found evidence of recent Campylobacter jejuni infection in 27.7% of patients with Guillain-Barré syndrome, as compared with 2.3% in neurological controls (P = .003) and 2.3% in nonneurological controls (P = .003). Of the 15 patients with Campylobacter jejuni infection, 8 (53.3%) reported having had diarrhea within 12 weeks before the onset of the neurologic illness. Our results suggest association between recent Campylobacter jejuni infection and bulbar weakness (P = .043). No statistical difference was observed between the Campylobacter jejuni positive and negative groups with respect to age, other clinical features, albuminocytological dissociation, and residual paralysis at follow-up. It is concluded that subclinical Campylobacter jejuni infection is an important antecedent illness in childhood Guillain-Barré syndrome in the Indian population.

Rett syndrome (RS) is an X-linked dominant neurodevelopment disorder with normal prenatal and postnatal development till 6-18 months, followed by stagnation and regression of acquired skills. RS primarily manifests in females, and there are a few reports with males having RS. Sporadic or de novo mutations of the methyl CpG binding protein 2 (MECP2) gene have been reported in 70-90% of affected girls. Conventional methods such as fluorescence in situ hybridization, real-time PCR, southern blotting, multiplex ligation-dependent probe amplification, and DNA sequencing have been previously reported for the detection of insertions or deletions in the MECP2 gene. Here, we report detection of two deletions of 44 bp (c.1157&#95;1200del44 or p.L386fs) and 38 bp (c.1151&#95;1188del38 or p.P384fs) in exon 4 or C-terminal segment (CTS) region of MECP2 using a simple PCR technique that is rapid, accurate, and cost effective as compared to other techniques. The deletions were detected by routine PCR amplification followed by 2% agarose gel electrophoresis. We suggest that a simple PCR can easily detect deletions in the hotspot CTS region of the MECP2 gene and can be used for routine molecular diagnostics of RS.

Objective: Congenital myopathies are rare. Through this article, the authors want to present a clinicopathological analysis of 25 new cases., Materials and Methods: The clinical data of patients who were diagnosed with congenital myopathy between 2001 and 2006 was retrieved. Muscle biopsies were processed for H&E staining, enzyme histochemistry, and immunohistochemistry. Biopsies were also processed for ultrastructural analysis., Results: During a period of 6 years, 1.12% of the muscle biopsies were diagnosed as congenital myopathies. The most common congenital myopathy was central core disease followed by nemaline rod myopathy and multi-mini core disease. Clinically, they have variable features. The final diagnosis was made with the help of enzyme histochemistry and ultrastructural features., Conclusion: This study emphasizes the importance of enzyme histochemistry and electron microscopic examination in the diagnosis of congenital myopathies especially in the absence of genetic studies.

The prospect that rotavirus diarrhea in children may soon be prevented by vaccines has placed a new priority on understanding the diversity of rotavirus strains and the mechanism by which these strains evolve over time. We have characterized a total of 465 rotavirus strains collected in North India from 2000 to 2007 for G and P types by reverse transcription-PCR and sequencing. The novel G12 rotavirus strains recently detected in other countries were first detected in India in 2001 and have emerged as the predominant strains in Delhi, India, during 2005 to 2007. While the VP7 sequence was highly homologous among G12 strains isolated in Delhi, suggesting recent emergence from a common ancestor, the strains had a diverse constellation of other gene segments, demonstrating substantial reassortment. For the entire period, the common rotavirus G types G1 (26%), G2 (25%), and G9 (14%) comprised 65% of the strains, and common P types, P[4] (19%), P[6] (22%), and P[8] (35%), comprised 76% of the total P types. Of note, we detected a high percentage of unusual (17%) strains and fecal specimens with mixed (12% G and 15% P) rotavirus infections having a variety of genomic constellations. For the first time, we identified two novel rotavirus strains with unusual G/P combinations, G2P[11] and G3P[11], in patients with diarrhea. The study highlights the great diversity among rotaviruses isolated from Indian children, the opportunity for genetic reassortment between strains, and the emergence of a novel G12 strain in our country. Due to the demonstrated effect of antigenic diversity on rotavirus vaccines, it will be important to continue careful monitoring of these strains as rotavirus vaccine programs are implemented in India.

Background: The duodenal ulcer (DU)-promoting gene (dupA) of Helicobacter pylori has been identified as a novel virulent marker associated with an increased risk for DU. The presence or absence of dupA gene of H. pylori present in patients with DU and functional dyspepsia in North Indian population was studied by polymerase chain reaction (PCR) and hybridization analysis., Materials and Methods: One hundred and sixty-six patients (96 DU and 70 functional dyspepsia) were included in this study. In addition, sequence diversity of dupA gene of H. pylori found in these patients was analyzed by sequencing the PCR products jhp0917 and jhp0918 on both strands with appropriate primers., Results: PCR and hybridization analyses indicated that dupA gene was present in 37.5% (36/96) of H. pylori strains isolated from DU patients and 22.86% (16/70) of functional dyspepsia patients (p < or = .05). Of these, 35 patients with DU (97.2%) and 14 patients with functional dyspepsia (81.25%) were infected by H. pylori positive for cagA genotype. Furthermore, the presence of dupA was significantly associated with the cagA-positive genotype (p < or = .02)., Conclusion: Results of our study have shown that significant association of dupA gene with DU in this population. The dupA gene can be considered as a novel virulent marker for DU in this population.

Taenia solium is the commonest parasitic infection of CNS and an important cause of new-onset seizures and epilepsy in children and adults. Human activities impact on almost every one of the stages of the lifecycle of the worm as man is responsible for dispersion of the parasite's egg through outdoor defecation and indiscriminate disposal of feces. Health education to cause behavioral changes in these practices can therefore be an effective intervention strategy. We conducted a study to assess KAP regarding taeniasis and neurocysticercosis among municipal school teachers in Delhi. The findings are presented in this communication. The study revealed that, general information related to personal food hygiene was known to majority of the teachers but core information in the context of taeniasis/cysticercosis and seizure prevention was lacking.

Background: Staphylococcus aureus-associated peritonitis and catheter exit-site infections (ESIs) are important causes of hospitalization and catheter loss in patients undergoing chronic peritoneal dialysis. Intranasal and topical use of mupirocin has been found to be an effective strategy in decreasing S. aureus-related infectious complications in persons who are carriers of S. aureus; however, there is no consensus regarding the prophylactic use of mupirocin irrespective of carrier status. We aimed to determine the potential effectiveness of application of mupirocin cream at the catheter exit site in preventing ESI and peritonitis irrespective of carrier status in a tropical country such as India., Methods: This prospective historically controlled study was done in a total of 40 patients. From August 2003, all patients, incident and prevalent, were instructed to apply 2% mupirocin cream daily to the exit site instead of the older practice of povidone-iodine and gauze dressing. Patients were not screened to determine whether they were S. aureus carriers. The infection-related data for 1 year, until July 2004, were compared with the historical control, which was infection-related data for the year preceding the year of mupirocin application., Results: Mean age of the study population was 62 years, with 61.8% being male and 64.3% being diabetic. Local application of mupirocin led to a significant reduction in the incidence density per patient-month of both ESI and peritonitis compared to controls (0.15 vs 0.37 and 0.37 vs 0.67, p = 0.01 for both). This amounted to a relative reduction of 60.5% and 55% respectively. ESI and peritonitis due to S. aureus were also significantly lower in the study group compared to controls (incidence density per patient-month 0.05 vs 0.13 and zero vs 0.17 respectively, p < 0.01 for both). There occurred no catheter removal due to infection-related complications during the study period compared to two during the control period. None of the patients reported a mupirocin-related adverse effect., Conclusions: Daily application of mupirocin at the exit site is a well-tolerated and effective strategy in reducing the incidence of ESI and peritonitis in a tropical country such as India. It can thus significantly reduce morbidity, catheter loss, and transfer to hemodialysis in peritoneal dialysis patients.

Background: Accurate measurement of renal function is important for the diagnosis, stratification and management of kidney disease. As the use of recommended filtration markers is limited by cumbersome and costly techniques, renal function is typically estimated by using various specifically derived prediction equations. Most of these equations have been derived from Caucasian patients suffering from varying degrees of chronic kidney disease. This study considers the validity of these equations in an Indian population without known kidney disease., Methods: One hundred and twenty-two consecutive renal donors who had undergone 99mTc-diethylenetriaminepentaaceticacid (DTPA) glomerular filtration rate (GFR) estimation were enrolled. The predictive capabilities of the Cockcroft and Gault equation for creatinine clearance corrected for body surface area (CG-CrCl), CG-CrCl corrected for GFR (CG-GFR), modification of diet in renal disease (MDRD) 1, MDRD 2 and 24-hr urinary creatinine clearance (urine-CrCl) were evaluated with DTPA GFR as measured GFR., Results: The mean age of the study population was 44.7 yrs with 72.2% being female). The mean measured DTPA GFR was 83.42 ml/min with a range of 61-130 ml/min. The median % absolute difference between the calculated and measured GFR was 19.7, 15.4, 19.3, 20.8 and 25.5, respectively, for CG-CrCl, CG-GFR, MDRD 1, MDRD 2 and urine-CrCl. Pearson's correlation between the measured and estimated GFR varied from 0.09-0.27. The precision as reflected by R2 value was 0.05 for CG-CrCl and CG-GFR, 0.06 for MDRD 1 and MDRD 2 and 0.01 for urine-CrCl. The bias was -14.14, 1.46, 11.89, 17.70 and -2.80 for CG-CrCl, CG-GFR, MDRD 1, MDRD 2 and urine-CrCl, respectively. The accuracy within 30% was 71.3, 85, 86, 76 and 69% for CG-CrCl, CG-GFR, MDRD 1, MDRD 2 and urine-CrCl, respectively., Conclusions: Our results from a healthy Indian population suggest that of all the predictive equations, MDRD 1 and MDRD 2 were the most precise, MDRD 1 the most accurate and CG-GFR the least biased. However, the poor correlation and error level exhibited by these equations makes them sub-optimal for clinical use.

Unlabelled: In about 10% cases of Duchenne muscular dystrophy (DMD), death is due to cardiac dysfunction. The recognition of cardiomyopathy in DMD is thus important., Objective: To assess cardiac involvement in DMD patients by clinical, radiographic, electrocardiographic (ECG) and echocardiographic monitoring and correlate clinical parameters, CPK levels, presence of gene deletion and steroid therapy with cardiac involvement., Methods: Thirty patients beyond 6 years age, with DMD in advanced stage disease/non-ambulatory were recalled. A detailed clinical evaluation, CPK levels, gene deletion studies were carried out. Cardiac investigations included Chest X-ray, 12 lead ECG and echocardiography., Results: Nineteen patients were non-ambulatory at the time of enrollment. Symptoms or signs suggestive of cardiac dysfunction were seen in only 10%. Gene deletion was identified in 70.3%. Around one-third patients had cardiomegaly. ECG abnormalities were present in 93.3% patients and commonest abnormality was R > 4 mm in V1. Ejection fraction (EF) < 55% was observed in 64.2% and EF < 50% in 17.8%., Conclusion: Cardiomyopathy of DMD is characterized by lack of symptoms and few physical signs. Presence of subtle changes like sinus tachycardia may suggest early cardiac involvement. Thus echocardiography is required for evaluation of cardiac dysfunction. Presence of gene deletion was associated with higher CT ratio. Older children have been found to have higher heart rates. No other significant correlation with clinical parameters, CPK levels, genotype and steroid therapy was observed. Early detection possibly leads to appropriate treatment thus reducing the morbidity.

Unlabelled: Pervasive developmental disorders (PDD) or Autistic Spectrum Disorders (ASD) include Autistic Disorder (commonest), Asperger's syndrome, Childhood Disintegrative Disorders, Rett's syndrome and PDD-NOS (not otherwise specified)., Objective: Autism is an important cause of social disability and reported more often from the developed world than from the developing countries. The present study was aimed to establish the diagnosis of autism amongst children with derangements of language, communication and behavior; ascertain and treat the co-morbidities; identify underlying cause and create a sensitivity and awareness among various health care professionals., Methods: Sixty-two of the seventy-five referred patients fulfilled the DSM-IV (Diagnostic and Statistical Manual of Mental Disorder) criteria for autism. Evaluation included a detailed history, clinical examination, IQ assessment, Connor's scoring for hyperactivity and Fragile-X screening. Management of co-morbidities was done. A follow up of these patients was done. Parents' assessment of the child was also done. A registry for autistic children was established at the Department of Pediatrics with other major institutions of Delhi., Results: The male:female ratio was 8:1 and missed diagnosis was common. Professional awareness is merited. Behavioral modification by early intervention and stimulation improved the core symptoms of autism. Important co-morbidities included mental retardation (95%), hyperactivity (53%) and seizures (10%) cases. Control of co-morbidities in these children facilitated child's periodic assessment and implementation of intervention programmes. In the registry initiated 62 patients were enrolled at AIIMS and 6 were identified from other hospitals., Conclusion: Autism does occur in Indian children too. Diagnosis is often missed. Capacity building among health professionals by a more structured teaching of developmental disabilities in the medical curriculum is required. The need to attend to co-morbidities and associated symptoms was clear. The initiation of the registry and beginning of networking was important.

As ethnic variations are known to exist in inherited genetic defects, the clinico-haematological profile of Indian children with thrombophilia may be different from that of Caucasians. The aim of the study was to analyse the phenotypic and genotypic causes of thrombophilia in Indian children. Forty patients with arterial (21 patients) and venous (19 patients) thrombosis were the subjects of the study. Their age ranged from 6 days to 15 years. All of the patients were initially screened by Pro C Global assay. Activated protein C resistance (APCR) was measured. In cases with low Pro C Global values, protein C (PC), protein S (PS) and factor V G1691A, prothrombin G20210A and MTHFR C677T polymorphism were tested in all 40 cases. Of the 21 patients with arterial thrombosis, 4 (19%) had PC deficiency, 7 (33.3%) had PS deficiency and 1 (4.8%) had combined deficiency of PC and PS. Of the 19 patients with venous thrombosis, 5 (26.3%) each had PC and PS deficiency and 4 (21%) had combined PC and PS deficiency. Heterozygous factor V G1691A defect was seen in one (4.8%) patient with arterial thrombosis and three (15.8%) patients with venous thrombosis. Heterozygous MTHFR C677T polymorphism was seen in five (23.8%) patients with arterial thrombosis and in four (21%) patients with venous thrombosis. Prothrombin G20210A polymorphism was absent in all patients and controls. Protein C system defect is common in Indian children with thrombosis.

Objective: To study the clinical profile, immediate outcome and possible risk factors of SE in pediatric age group admitted to pediatric intensive care unit (PICU) in a tertiary care center., Methods: A retrospective study of case records of 451 neuroemergency patients admitted in PICU in a tertiary care center between January 1993 to April 2000, out of which 30 patients had status epilepticus. They were evaluated for their clinical presentation, laboratory parameters, treatment profile and immediate outcome., Results: The age group varied from 1 to 120 months with mean of 56.6+/- 46.5 months. Seventeen patients were less than 60 months. Sixteen patients (53.3%) presented with SE as first presentation without prior history of seizure activity. Nine patients died (30%) during hospital course. Seizure duration> 45 minutes (p-0.001) and presence of septic shock (p-0.001) were associated with significantly more mortality., Conclusion: There is a need to abort seizure activity at the earliest and this improves immediate outcome.

Background: Accurate measurement of donor renal function has important long-term implications for both the donor and recipient. As the use of recommended filtration markers is limited by cumbersome and costly techniques, renal function is typically estimated using 24-hour urinary creatinine clearance (urine-CrCl). Prediction equations used for rapid bedside estimation of glomerular filtration rate (GFR) are simple and overcome the inaccuracies of urinary collection and, if validated, can expedite the donor workup besides reducing the cost. We assessed the suitability of urine-CrCl and prediction equations for evaluating potential Indian renal donors., Methods: 173 consecutive renal donors were enrolled. The predictive capabilities of the Cockcroft and Gault equation for creatinine clearance (CrCl) corrected for body surface area (CG-CrCl), CG-CrCl corrected for GFR (CG-GFR), MDRD-1, MDRD-2 and urine-CrCl were evaluated with 99mTc-diethylenetriaminepentaacetic acid (DTPA)-GFR as reference GFR., Results: The study population had a mean age of 44.1 years with 74% being females. Mean DTPA-GFR was 83.85 ml/min/1.73 m2. The median percent absolute difference was most with urine-CrCl and least with CG-GFR (21.84 and 13.82). The Pearson's correlation varied from 0.08 to 0.26 (urine-CrCl and MDRD-1). The precision was most with MDRD-1 and least with urine-CrCl (0.07 and 0.01). The bias was least with CG-GFR and most with MDRD-2 (1.34 and 17.16). The number of subjects with predicted GFR values within 30% of DTPA was most with MDRD-1 (86%) and least with urine-CrCl (69%). The sensitivity for selecting a donor with a GFR of > or = 80/ml/min/1.73 m2 was the most with CG-GFR (65.7%), while specificity was maximum with MDRD-2 (90.1%)., Conclusion: Our results in potential Indian renal donors show that of all the prediction equations MDRD-1 is the most precise and accurate, while CG-GFR is the least biased. However, the poor correlation and level of error exhibited by these equations makes them suboptimal for donor evaluation., (Copyright 2005 S. Karger AG, Basel.)

Central core disease is a congenital myopathy characterized by generalized hypotonia, muscle weakness and presence of central cores on muscle biopsy. It generally presents during infancy. It is familial with autosomal dominant inheritance [Chromosome 19q13.1; Gene Locus RyR1 (Ryanodine receptor gene)]. We report here two cases of central core disease in a 3-year-old male child and 8 year old female child.

It has been demonstrated that intrauterine growth retardation, defined as birth weight below the 10th percentile, gives rise to a reduction in nephron number. Oligonephropathy has been suggested to increase the risk for systemic and glomerular hypertension in adult life as well as enhance risk for expression of renal disease after exposure to potentially injurious renal stimuli. Diseases, such as diabetes, that damage the kidney, may enhance this risk. In addition, it has been hypothesized that the same factors affecting kidneys in utero also impact on pancreatic tissue development, thus predisposing infants of low birth weight to an increased risk for the subsequent development of diabetes and diabetic nephropathy, consistent with the so-called "thrifty phenotype" hypothesis. Impact of low birth weight on nondiabetic renal disease has also been shown in some studies. In the current scenario, chronic kidney disease is increasing all over the world and the major two causes are diabetes and hypertension. Once the issues are shifting from management of end-stage renal disease to prevention of chronic kidney disease, prevention of low birth weight is likely to be an issue for the nephrologists in future.

Erythema annulare centrifugum (EAC) is a rare disease entity characterized by dense perivascular lymphocytic infiltrates in dermis. It has been associated with a few conditions, though its etiology is largely unknown. To our knowledge there has been no reported association with autoimmune hepatitis described earlier. This child also was positive for hepatitis C virus antibodies, though HCV RNA was negative. We should keep in mind the false positivity of hepatitis C antibodies before deciding on its therapy.

Abnormalities in the lipid profile though uncommon in pediatric practice pose an increased risk for developing heart disease. Studies suggest that adult cardiovascular disease has its roots in children and young adults. A significant correlation between atherosclerotic changes in children and young adults and total and LDL cholesterol levels also exists. The association is particularly true for Familial Hypercholesterolemia. We report a young boy aged 14 years who presented with all the features of Familial Hypercholesterolemia.

The best known muscular dystrophies are X-linked dystrophinopathies. A clinically and genetically heterogeneous group presenting with weakness of the pelvic and shoulder girdles is that of the limb-girdle muscular dystrophies (LGMDs). Sarcoglycanopathies (SGPs) are autosomal recessive LGMDs. We report a rare case of primary gamma-sarcoglycanopathy (SGP) which emphasizes the evolving concept of dystrophinopathy to sarco-glycanopathy.

This cross-sectional study was conducted to estimate the mean blood lead levels (BLL) and prevalence of lead toxicity in a representative sample of schoolchildren and children residing in an urban slum. In addition, the association of potential environmental risk factors with elevated BLL was studied. Children aged 4-6 years were selected from schools of the South zone of Delhi (n = 125) and from an urban slum (n = 65). Risk factors were recorded using a pre-tested questionnaire and blood lead and zinc protoporphyrin (ZPP) levels were estimated. The mean BLL was 7.8 microg/dl (SD 3.9) and the proportion of children with blood lead > or = 10 microg/dl was 18.4 per cent. Distance of the residence or school from a main road appeared to be associated with higher blood lead concentrations, but these differences were not statistically significant. In our setting, vehicular pollution may be a major contributing factor in lead contamination of the environment.

Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic modalities and their influence on spasm frequency, long-term development and final seizure status were compared. The two primary outcome variables analyzed included final seizure status and developmental outcome. Of the 94 infantile epileptic encephalopathies, West syndrome was the commonest (55.3%), of which two thirds were symptomatic. Etiological factors were prenatal in 66.6% and perinatal in 33.3%. The initial response to ACTH was good in 54.5% with subsequent relapse in 27.8% and for prednisolone was 52.9 and 44.4%, respectively, compared to 25.3% spasms control with conventional antiepileptic drugs. Disease category of infantile epileptic encephalopathies evolved in 4, i.e. early myoclonic encephalopathy to West syndrome 1, early infantile epileptic encephalopathy to West syndrome 1, West syndrome to Lennox-Gastaut syndrome 2. Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. Final seizure outcome was poor in children with delayed development at onset (adjusted odds ratio [OR] = 4), delay in diagnosis >12 months (OR = 2.27) and in children with Lennox-Gastaut syndrome (OR = 4.75). ACTH/prednisolone and antiepileptic treatment versus antiepileptics alone showed a good final seizure response in 36.6% versus 20%. Development on follow up was delayed in children with initial psychomotor retardation (OR = 23.4) and abnormal electroencephalogram (OR = 7.46). Perinatal factors constituted one third of symptomatic West syndrome. The use of ACTH/corticosteroids resulted in good initial spasm control though final seizure outcome and development were unaffected. Prednisolone had similar response to ACTH in spasm control but higher subsequent relapse rate. Vigabatrin was useful though often unaffordable. The identification of a neurometabolic etiology, though uncommon, has significant therapy implications. Delay in diagnosis was common and negatively influenced final seizure outcome.

Children with infantile epileptic encephalopathies comprising 3.5% of the Pediatric Neurology Clinic registrations in a tertiary care hospital were retrospectively analyzed. Data were retrieved from case records and analyzed for seizure semiology, prenatal and perinatal insults, developmental status and relevant investigations. The various therapeutic modalities and their influence on spasm frequency, long-term development and final seizure status were compared. The two primary outcome variables analyzed included final seizure status and developmental outcome. Of the 94 infantile epileptic encephalopathies, West syndrome was the commonest (55.3%), of which two thirds were symptomatic. Etiological factors were prenatal in 66.6% and perinatal in 33.3%. The initial response to ACTH was good in 54.5% with subsequent relapse in 27.8% and for prednisolone was 52.9 and 44.4%, respectively, compared to 25.3% spasms control with conventional antiepileptic drugs. Disease category of infantile epileptic encephalopathies evolved in 4, i.e. early myoclonic encephalopathy to West syndrome 1, early infantile epileptic encephalopathy to West syndrome 1, West syndrome to Lennox-Gastaut syndrome 2. Psychomotor retardation was seen in 88.2%, with 16.1% having normal development at onset of spasms. Microcephaly was associated with delayed development but did not influence final seizure outcome. Final seizure outcome was poor in children with delayed development at onset (adjusted odds ratio [OR]=4), delay in diagnosis >12 months (OR=2.27) and in children with Lennox-Gastaut syndrome (OR=4.75). ACTH/prednisolone and antiepileptic treatment versus antiepileptics alone showed a good final seizure response in 36.6% versus 20%. Development on follow up was delayed in children with initial psychomotor retardation (OR=23.4) and abnormal electroencephalogram (OR=7.46). Perinatal factors constituted one third of symptomatic West syndrome. The use of ACTH/corticosteroids resulted in good initial spasm control though final seizure outcome and development were unaffected. Prednisolone had similar response to ACTH in spasm control but higher subsequent relapse rate. Vigabatrin was useful though often unaffordable. The identification of a neurometabolic etiology, though uncommon, has significant therapy implications. Delay in diagnosis was common and negatively influenced final seizure outcome.

Objective: To study the clinical profile at presentation and on follow up in cases of Wilson's disease presenting at this hospital., Methods: Case records of children diagnosed as Wilson's disease (WD) admitted in the hospital or attending the Pediatric outpatient department were retrospectively studied with regard to clinical features, investigations, and family screening at the time of presentation. Note was made of the treatment received by the patients. Clinical profile on follow up was recorded with respect to side effects of treatment, and whether patient improved, deteriorated or remained the same, either from the records or by calling the patient for a follow up, if possible., Results: Analysis of 25 children with Wilson's disease comprising 19 index cases and 6 siblings detected on family screening, revealed mean age of onset for the hepatic presentation was 6.8 years versus 8 years for the neurologic patient. A quarter of index cases has a family history strongly suspicious for Wilson disease which has been earlier overlooked. Clinical presentation was hepatic in 5 patients, purely neurologic in 5, mixed hepatic and neurologic in 9, hemolytic anemia in 1 and polyarthritis in 1. Patients received treatment with D penicillamine, zinc, pyridoxine and low copper diet. Follow upon 18 patients revealed improvement in majority, residual dysarthria in seven,prolonged persistence of KF rings in 15 and complications like renal tubular acidosis with osteopenia in one., Conclusion: The early age of onset of symptoms, prolonged KF rings persistence and progression of symptoms among sibs despite therapy is of interest as it may be related to a high copper intake, which may be due to the practice of using brass or copper utensils for cooking Since a large number of children has either a past history of jaundice or sibling deaths due to jaundice or cirrhosis, a high index of suspicion and screening for KF rings is emphasized as a simple and cost effective way of detecting a curable disease at an early stage and family screening of all index cases is imperative. Progression of symptoms among sibs on oral zinc and low dose pencillamine suggests inadequacy of zinc alone for prophylaxis.

An epidemic of dengue haemorrhagic fever occurred in Delhi during 1988. A total of 21 paediatric patients with dengue haemorrhagic fever/dengue shock syndrome were evaluated from September to November 1988. All the patients had fever, restlessness, ecchymotic spots and ascites. Pleural effusion occurred in 19 patients (90%), and 18 (86%) exhibited each of the following: vomiting, thrombocytopenia, and haemoconcentration. Hepatomegaly was observed in 15 patients (71%) and splenomegaly in three (14%). Titres of haemagglutination inhibition (HI) antibodies against dengue virus type 2 were raised in all the 15 cases from whom sera were collected during the acute stage. Convalescent sera from five patients had increased titres of HI antibodies to dengue virus type 2. The remaining 10 cases exhibited raised IgM antibody levels against dengue virus type 2. The fatality rate for serologically proven cases was 13% (2 of 15 patients), while for all patients (including those diagnosed clinically (6) and serologically (15)) it was 33.3% (7 of 21). Patients who survived had no sequelae, except one who had transient hypertension that lasted for two weeks.

Pedigree charts of 20 families with an index case of Indian childhood cirrhosis, and 70 families of age-matched controls are analysed. Only 177 families were informative for segregation analysis. A single ascertainment model was used for analysis. The hypotheses of autosomal-recessive, partial sex-linkage, and doubly recessive inheritance were found untenable. Multifactorial inheritance was found more plausible. The estimates of heritability of liability were 0.904 for propositi sib and 1.587 for propositi cousins, which indicates a strong role of heredity in the etiology of the disease.