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Numerous studies have depicted the role of diet and environmental toxins in aging. Melamine (Mel) is a globally known notorious food adulterant, and its toxicity has been shown in several organs including the brain. However, till now, there are no reports regarding Mel neurotoxicity in aging neurons. So, this study examined the in vitro neurotoxicity caused by Mel in the D-galactose (DG)-induced aging model of neuronal SH-SY5Y cells. In the present study, the neuronal SH-SY5Y cells were treated with DG and Mel separately and in combination to assess the neurotoxicity potential using MTT assay and neurite length measurement. Further, the superoxide dismutase (SOD), catalase (CAT), and total antioxidant activities were evaluated followed by the determination of the intracellular reactive oxygen species (ROS), mitochondrial membrane potential (MMP), and caspase3 (Casp3) activity. The cotreatment of Mel and DG in neuronal SH-SY5Y cells showed maximum cell death than the cells treated with DG or Mel individually and untreated control cells. The neurite length shrinkage and ROS production were maximum in the DG and Mel cotreated cells showing exacerbated toxicity of Mel. The activity of SOD, CAT, and total antioxidants was also found to be lowered in the cotreatment group (Mel + DG) than in Mel- or DG-treated and untreated cells. Further, the combined toxicity of Mel and DG also elevated the Casp3 activity more than any other group. This is the first study showing the increased neurotoxic potential of Mel in an aging model of neuronal SH-SY5Y cells which implicates that Mel consumption by the elderly may lead to increased incidences of neurodegeneration like Alzheimer's disease and Parkinson's disease. [ABSTRACT FROM AUTHOR]

There is paucity of published literature on follow-up outcome of mineralizing angiopathy with basal ganglia stroke related to minor head trauma. This retrospective study aims to bridge this knowledge gap. Patients (1 months- 15 years), presenting with acute stroke over a 5-year period were recruited. From this cohort, basal ganglia strokes following minor head trauma were analysed in detail and outcome assessed using the Recovery and Recurrence Questionnaire (RRQ). A total of 94 patients were eligible, 48 (51%) were basal ganglia stroke following minor head trauma [M: F 2.5:1; mean age 21 ± 8.5 (±SD months]. Further evaluation of this group revealed a median time of 60 min (range 0–96 h) from trauma to stroke onset. Nearly all had acute hemiparesis (45/48). Almost a third of patients (n = 13; 27%) had a transient hemi dystonia on the hemiparetic side after a median of 4 days (range 2–6 days) of symptom onset.Computed tomography (CT) head showed bilateral basal ganglia calcification in all; Most patients (31/48; 64.5%) were anaemic. Magnetic Resonance (MR) angiography, echocardiogram and thrombophilia screen was normal wherever they were performed (6/48).The median follow-up period - 14 months (Range 0–22months). Majority of patients (22/35; 63%) showed complete recovery at 18 months follow up, with maximum recovery occurring between 6 and 12 months. Minor head trauma leading to basal ganglia stroke in children was the most common cause of paediatric stroke in our patients. In follow-up most patients had recovered fully, though a significant minority did not recover completely. • Mineralising angiopathy associated stroke was the most common cause of paediatric stroke in our setting. • The Recovery and Recurrence questionnaire (RRQ) is a useful telephonic interview tool to assess paediatric stroke recovery. • Most patients (63%) of basal ganglia stroke after minor head trauma had complete recovery at 18 months follow up. • The maximal recovery of patients occured between 6 and 12 months. [ABSTRACT FROM AUTHOR]

One of the key indicators used under India's TB control program is the DOTS case detection rate of new sputum smear positive TB whose estimates in India are based on incidence estimates derived from Styblo's rule. Styblo's rule was formulated in an era without well-established tuberculosis control program, effective tuberculosis drugs, and emergence of TB-HIV coinfection, so today it does not reflect the true incidence of TB. Considering various loopholes in different methods of measurement of incidence (prevalence surveys of disease/ infection, vital registration system and Styblo's rule), strengthening of existing surveillance system is the best tool to obtain correct estimates of tuberculosis incidence in India. [ABSTRACT FROM AUTHOR]

Rotavirus is the leading cause of childhood diarrhea worldwide, causing an estimated 600,000 deaths each year. To assess the potential benefits of a national rotavirus immunization program in India, we analyzed 40 published studies of rotavirus that were conducted between 1976 and 1997 and included a total of approximately 13,000 Indian pediatric inpatients. Pediatric studies featuring 100 or more patients and lasting at least 12 months in duration and all neonatal studies were analyzed. Rotavirus was detected in a median of 18% of pediatric patients and 28% of neonates surveyed. Fifty percent of all children hospitalized with rotavirus by age 5 were hospitalized by the age of 6 months, 75% by the age of 9 months, and almost 100% by the age of 2 years. Rotavirus was most prevalent (31%) in children between 7 and 12 months of age, followed by children between 1 and 2 years of age (20%), and children < 7 months of age (13%). VP7 genotypes G1 and G2 were most commonly isolated although significant heterogeneity of serotypes was observed. P[11], G9 strains were most frequently isolated among neonates. In 1998; approximately 98,000 childhood deaths were caused by rotavirus. These data underscore the urgent need for safe and effective interventions against rotavirus such as vaccines. The significant diversity of rotavirus strains and young age of hospitalization pose unique challenges to the formulation of a rotavirus immunization program in India, but raise the possibility of utilizing a neonatal vaccine to provide effective coverage. [ABSTRACT FROM AUTHOR]

Background: Neuronal ceroid lipofuscinoses type I and type II (NCL1 and NCL2) also known as Batten disease are the commonly observed neurodegenerative lysosomal storage disorder caused by mutations in the PPT1 and TPP1 genes respectively. Till date, nearly 76 mutations in PPT1 and approximately 140 mutations, including large deletion/duplications, in TPP1 genes have been reported in the literature. The present study includes 34 unrelated Indian patients (12 females and 22 males) having epilepsy, visual impairment, cerebral atrophy, and cerebellar atrophy. Methods: The biochemical investigation involved measuring the palmitoyl protein thioesterase 1 and tripeptidy peptidase l enzyme activity from the leukocytes. Based on the biochemical analysis all patients were screened for variations in either PPT1 gene or TPP1 gene using bidirectional Sanger sequencing. In cases where Sanger sequencing results was uninformative Multiplex Ligation-dependent Probe Amplification technique was employed. The online tools performed the protein homology modeling and orthologous conservation of the novel variants. Results: Out of 34 patients analyzed, the biochemical assay confirmed 12 patients with NCL1 and 22 patients with NCL2. Molecular analysis of PPT1 gene in NCL1 patients revealed three known mutations (p.Val181Met, p.Asn110Ser, and p.Trp186Ter) and four novel variants (p.Glu178Asnfs*13, p.Pro238Leu, p.Cys45Arg, and p.Val236Gly). In the case of NCL2 patients, the TPP1 gene analysis identified seven known mutations and eight novel variants. Overall these 15 variants comprised seven missense variants (p.Met345Leu, p.Arg339Trp, p.Arg339Gln, p.Arg206Cys, p.Asn286Ser, p.Arg152Ser, p.Tyr459Ser), four frameshift variants (p.Ser62Argfs*19, p.Ser153Profs*19, p.Phe230Serfs*28, p.Ile484Aspfs*7), three nonsense variants (p.Phe516*, p.Arg208*, p.Tyr157*) and one intronic variant (g.2023_2024insT). No large deletion/duplication was identified in three NCL1 patients where Sanger sequencing study was normal. Conclusion: The given study reports 34 patients with Batten disease. In addition, the study contributes four novel variants to the spectrum of PPT1 gene mutations and eight novel variants to the TPP1 gene mutation data. The novel pathogenic variant p.Pro238Leu occurred most commonly in the NCL1 cohort while the occurrence of a known pathogenic mutation p.Arg206Cys dominated in the NCL2 cohort. This study provides an insight into the molecular pathology of NCL1 and NCL2 disease for Indian origin patients. [ABSTRACT FROM AUTHOR]

Cerebral creatine deficiency syndromes (CCDS) are a group of potentially treatable neurometabolic disorders. The clinical, genetic profile and follow up outcome of Indian CCDS patients is presented. This was a retrospective cohort of CCDS patients seen over six-years. Diagnosis was based either on low creatine peak on proton magnetic resonance spectroscopy (MRS) and/or genetic evaluation. Thirteen patients were eligible [8 creatine transporter deficiency (CTD), 4 guanidinoacetate methyltransferase (GAMT) deficiency and 1 could not be classified]. The mean (±SD) age at diagnosis was 7.2(±5.0) years. Clinical manifestations included intellectual disability (ID) with significant expressive speech delay in all. Most had significant behavior issues (8/13) and/or autism (8/13). All had history of convulsive seizures (11/13 had epilepsy; 2 patients only had febrile seizures) and 2/13 had movement disorder. Constipation was the commonest non-neurological manifestation (5/13 patients). Cranial MRI was normal in all CTD patients but showed globus pallidus hyperintensity in all four with GAMT deficiency. MRS performed in 11/13 patients, revealed abnormally low creatine peak. A causative genetic variant (novel mutation in nine) was identified in 12 patients. Three GAMT deficiency and one CTD patient reported neurodevelopmental improvement and good seizure control after creatine supplementation. Intellectual disability, disproportionate speech delay, autism, and epilepsy, were common in our CCDS patients. A normal structural neuroimaging with easily controlled febrile and/or afebrile seizures differentiated CTD from GAMT deficiency patients who had abnormal neuroimaging and often difficult to control epilepsy and movement disorder. [ABSTRACT FROM AUTHOR]

Background: Psoriasis is an inflammatory skin disease associated with significant comorbidity. However, the characteristics of patients with psoriasis are not well documented in India, and a more detailed understanding is needed to delineate the epidemiologic profile at the regional level for better management of psoriasis. Herein, we reported the clinical profile and demographic pattern of psoriasis to further understand its burden in the Indian setting., Methods: We conducted a retrospective observational study of patients diagnosed with psoriasis who fulfilled the classification criteria for psoriatic arthritis (CASPAR) criteria. Patients were included from the rheumatology outpatient department of Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute in Mumbai, India. The outcomes included demographic and clinical profiles, patterns of joint involvement, and comorbidities associated with psoriasis. A p -value of <0.05 was considered significant., Results: We enrolled 60 patients, with a mean age of 50.87 years and a higher proportion of females (62%). The majority of patients with less than five joints had associated comorbidities (40 out of 60). Psoriatic arthritis (PsA) occurred in 41 patients [mean ± standard deviation (SD) age of onset-38.88 ± 13.24 years], with the highest occurrence in the 30-50 years (53.3%). The majority of patients with PsA developed it within 2 to ≥5 years of psoriasis occurrence. We did not find any significant correlation between the occurrence of PsA and comorbidities, as well as the duration of PsA and the number of joints ( p = 0.152). Pitting and enthesitis were the most common morphological changes noted in almost half of the patients., Conclusion: Our study provides an overview of the epidemiologic and clinical characteristics of psoriasis patients in India. These findings could be useful for early diagnosis of PsA and help clinicians in assessing the progression of psoriasis into PsA., (© Journal of the Association of Physicians of India 2024.)

Fructose-1, 6-bisphosphatase deficiency is an autosomal recessive disorder of gluconeogenesis caused by genetic defect in the FBP1 gene. It is characterized by episodic, often life-threatening metabolic acidosis, liver dysfunction, and hyperlactatemia. Without a high index of suspicion, it may remain undiagnosed with devastating consequences. Accurate diagnosis can be achieved either by enzyme assay or gene studies. Enzyme assay requires a liver biopsy and is tedious, invasive, expensive, and not easily available. Therefore, genetic testing is the most appropriate method to confirm the diagnosis. Molecular studies were performed on 18 suspected cases presenting with episodic symptoms. Seven different pathogenic variants were identified. Two common variants were noted in two subpopulations from the Indian subcontinent; p.Glu281Lys (E281K) occurred most frequently (in 10 patients) followed by p.Arg158Trp (R158W, in 4 patients). Molecular analysis confirmed the diagnosis and helped in managing these patients by providing appropriate genetic counseling. In conclusion, genetic studies identified two common variants in the Indian subcontinent, thus simplifying the diagnostic algorithm in this treatable disorder., (© 2018 John Wiley & Sons Ltd/University College London.)

The aim of the present study was to study the epidemiological and clinical profile of patients attending an exclusive pediatric Emergency Department (ED). Data was retrieved from records of the patients seen over a 6-year period from 1995 to 2000. Descriptive analysis was done to define demographic and clinical details, and monthly admission rates and diagnoses. A total of 43800 patients were seen during the study period. Of these 42.1 per cent were admitted after initial evaluation. The ratio of boys to girls was 3:1; 47 per cent were infants under 1 year of age. The common reasons for attending the emergency department were gastrointestinal and respiratory illnesses (23 per cent each), neurological emergencies (16 per cent), and neonatal problems (15.6 per cent). Poisonings were seen in 0.6 per cent of patients. Eight illnesses, i.e. acute diarrhea, upper respiratory infection, pneumonia, acute asthma, seizures, meningitis, and neonatal sepsis and jaundice, comprised nearly half of all the emergency visits. Acute diarrhoeal diseases, pneumonia, asthma, and encephalitis showed a distinct seasonal trend. Our data implies that planning of staff training and triage and efficient resource utilization in the pediatric ED in a developing country such as ours should take into consideration the preponderance of infants, seasonal trends, and the most common emergencies (acute diarrhea, pneumonia, acute asthma, seizures and neonatal infection) as priorities.

Background/purpose: On January 26, 2001, a 7.9 Richter earthquake struck the Indian state of Gujarat. Over the next 6 days, the International Red Cross set up a mobile hospital in the city of Bhuj, near the epicenter. The authors describe all surgeries on children treated there during the first 4 weeks of operation. The evolution of presenting injuries is noted, the types of surgery required are classified and an effective disaster relief team composition and strategy are proposed., Methods: Total casualties were estimated at 30,000, with 250,000 people injured. Of 1,142 inpatients treated at Nor-Finn hospital during the first 4 weeks, approximately 300 (25%) were