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• We report 20 LOPD patients from India. • The common c.−32–13T>G (IVS1) Caucasian mutation is absent. • Increased severity of disease phenotype with earlier age at disease onset. • Significant cardiac involvement than previously reported in Caucasian population. • GAA variant spectrum and novel variants. We evaluated the clinical histories, motor and pulmonary functions, cardiac phenotypes and GAA genotypes of an Indian cohort of twenty patients with late onset Pompe disease (LOPD) in this multi-centre study. A mean age at onset of symptoms and diagnosis of 9.9 ± 9.7 years and 15.8 ± 12.1 years respectively was identified. All patients had lower extremity limb-girdle muscle weakness. Seven required ventilatory support and seven used mobility assists. Of the four who used both assists, two received ventilatory support prior to wheelchair use. Cardiac involvement was seen in eight patients with various combinations of left ventricular hypertrophy, tricuspid regurgitation, cardiomyopathy, dilated ventricles with biventricular dysfunction and aortic regurgitation. Amongst 20 biochemically diagnosed patients (low residual GAA enzyme activity) GAA genotypes of 19 patients identified homozygous variants in eight and compound heterozygous in 11: 27 missense, 3 nonsense, 2 initiator codon, 3 splice site and one deletion. Nine variants in 7 patients were novel. The leaky Caucasian, splice site LOPD variant, c.−32−13T>G mutation was absent. This first study from India provides an insight into a more severe LOPD phenotype with earlier disease onset at 9.9 years compared to 33.3 years in Caucasian patients, and cardiac involvement more than previously reported. The need for improvement in awareness and diagnosis of LOPD in India is highlighted. [ABSTRACT FROM AUTHOR]

Background: This exploratory study reports the prevalence of lipohypertrophy (LH) in insulin-treated type 2 diabetes patients attending a private tertiary hospital in Mumbai, India, and explores the factors associated with this condition. Methods: A total of 96 patients attending the outpatient department, completed an interviewer-administered questionnaire followed by an examination of insulin injection sites for the presence of LH by a trained diabetes nurse educator. Results: Nearly 68% of the respondents had LH. Most patients (82%) had LH on at least two injection sites, with the frontal areas of the right and left side of the abdomen being the most common sites. Despite a high prevalence of LH, the majority of patients were unaware that they had the condition (77%) and could not identify the causes (74%). Half of the patients reported awareness about the different sites for injecting insulin, injection techniques, and the need for rotating injection sites. Only 26% always rotated injection sites, while 16% changed needles more than half of the time in the week prior to the interview. Bivariate analysis found higher number of years with diabetes and on insulin and a higher insulin dose per day as significant factors (p value < 0.05). Logistic regression showed a strong relationship between the presence of LH and the number of years on insulin (p value < 0.05). The number of years on insulin for patients with and without LH averaged 8.2 and 3.7, respectively. Conclusion: Findings highlight a gap in patients' knowledge and management of LH, and call for a hospital-wide intervention encompassing patient education and provider sensitization. [ABSTRACT FROM AUTHOR]

From 2017‐2019, during the winter months (November–January), epidermal papilloma like benign tumor was observed in farm-reared adult grass carp, Ctenopharyngodon idella at the northern part of India. An investigation was undertaken to establish the causative agent of this epizootiology. Based on the clinical signs and ineffectiveness of antibiotics to control this disease, viral infection was suspected. A primer was designed to PCR amplify the partial DNA polymerase gene of lymphocystis disease virus (LCDV) from the tumor of moribund grass carp, which yielded 460 bp amplicon. After sequencing this 460 bp amplicon, the viral agent from the tumor of grass carp was identified as lymphocystis disease virus and given strain designation LRI-18 (Genbank accession number-MK347473). Phylogenetic analysis based on the nucleotide sequence of DNA polymerase gene of LCDV revealed the close association of LCDV LRI-18 to LCDV strain from Israel with 99.0% and 96.5% nucleotide and amino acid sequence identity, respectively. LCDV LRI-18 form single (type A; 0.5–2.0 μm) or multiple (type B; 0.5–2.0 μm) intracytoplasmic inclusion bodies on lymphocystis and erythrocyte cells of infected grass carp. Transmission Electron Microscopy (TEM) of blood revealed the presence of enveloped icosahedral virions of approximately 280 nm in diameter with electron dense core and an outer capsid. Histopathological study of various organs of LCDV infected grass carp revealed extensive hypertrophy and fusion of secondary gill lamellae, focal hemorrhage in the eye, pyknotic nuclei in the liver, inflammation in the myocardium, fused villi of intestine and degeneration of the glomeruli in the kidney. Experimental infection by a dip to grass carp fingerlings (average body weight 4.4 ± 0.9 g) using 0.45 μm filtered LCDV crude suspension did not reproduce the disease, and also no mortality were observed. This is the first report of the occurrence of lymphocystis disease in grass carp in India. • LCDV infection was reported for the first time in India in farm reared grass carp during winter. • Intra-cytoplasmic inclusion body was present in RBC and nodule of grass carp. • Diagnosis of LCDV was carried out by molecular, histopathological and electron microscopy. • LCDV 1 LRI-18 of current study shows maximum similarity with LCDV from Israel. • Extensive histopathological changes was observed in gill and heart. [ABSTRACT FROM AUTHOR]

Long-term observations over a period of 22 years in an Indian family with primary dysferlinopathy are recorded, defining phenotypic variability. In the propositus, the dystrophy began distally in the tibialis anterior muscles, before involving the gastrocnemius. Transient painful calf hypertrophy, followed by calf wasting was observed. The proximal lower and upper limbs weakened after three to four years. The younger sibling presented with the proximo-distal phenotype. Both patients showed very high creatine kinase values early into the illness. Disease progression was slow. The younger sibling lost ambulation 14 years after onset, while the elder one remains ambulatory 22 years into the illness. Muscle biopsy showed dystrophic features and absence of dysferlin. Monocyte western blotting confirmed absence of dysferlin. Genetic analysis detected a heterozygous mutation in Exon 54 [c.6124C>T] in the DYSF gene. This is the first family with a diagnosis of dysferlinopathy supported by genetic data, reported from India. [ABSTRACT FROM AUTHOR]