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Objectives Myositis-specific and associated autoantibodies are important biomarkers in routine clinical use. We assessed local testing performance for myositis autoantibodies by comparing line immunoassay (LIA) to protein radio-immunoprecipitation and identifying clinical characteristics associated with each myositis autoantibody in the MyoCite cohort. Methods Serum samples from patients within the MyoCite cohort, a well-characterized retro-prospective dataset of adult and juvenile idiopathic inflammatory myopathy (IIM) patients in Lucknow, India (2017–2020), underwent LIA at Sanjay Gandhi Postgraduate Institute of Medical Science (SGPGIMS), Lucknow. Immunoprecipitation of 147 IIM patients' serum samples (125 adult-onset, 22 juvenile-onset) was conducted at the University of Bath, with researchers blind to LIA results. LIA performance was assessed against immunoprecipitation as the reference standard, measuring sensitivity, specificity and inter-rater agreement. Univariate and multivariate logistic regression determined clinical associations for specific myositis-specific autoantibodies. Results Immunoprecipitation identified myositis autoantibodies in 56.5% (n  = 83) of patient samples, with anti-Jo1 (n  = 16; 10.9%) as the most common, followed by anti-MDA5 (n  = 14, 9.5%). While LIA showed good agreement for anti-Jo1, anti-PL7 and anti-PL12 (Cohen's κ 0.79, 0.83 and 1, respectively), poor agreement was observed in other subgroups, notably anti-TIF1γ (Cohen's κ 0.21). Strongly positive samples, especially in myositis-specific autoantibodies, correlated more with immunoprecipitation results. Overall, 59 (40.1%) samples exhibited non-congruence on LIA and immunoprecipitation, and κ values for LIAs for anti-TIF1γ, anti-Ku, anti-PmScl, anti-Mi2 and anti-SAE ranged between 0.21 and 0.60. Conclusion While LIA reliably detected anti-Jo1, anti-PL7, anti-PL12, anti-MDA5 and anti-NXP-2, it also displayed false positives and negatives. Its effectiveness in detecting other autoantibodies, such as anti-TIF1γ, was poor. [ABSTRACT FROM AUTHOR]

This study aimed to determine the prevalence and clinical characteristics of anti-HMGCR antibodies in idiopathic inflammatory myositis (IIM) at a tertiary care centre in northern India. Data (adult and children) were retrieved from the MyoCite dataset, identifying patients with polymyositis, dermatomyositis, and antibody-negative IIM whilst fulfilling the ACR/EULAR criteria. SLE, sarcoidosis, and systemic sclerosis were included for comparison as disease controls. The baseline clinical profile, laboratory tests, and muscle biopsies were retrieved and analysed. Descriptive statistics and non-parametric statistics were used for comparison. Among 128 IIM (112 adults, 16 children, M:F 1:2.8) of age 37 (24–47) years and 6 (3–17) months disease duration, 4 (3.6%) young adults tested positive for anti-HMGCR antibodies. All children and disease control tested negative for the antibody. Anti-HMGCR + IIM exhibited higher muscle enzymes [AST (367 vs 104 IU/L, p = 0.045), ALT (502 vs 78 IU/L, p = 0.004), and CPK (12,242 vs 699 IU/L, p = 0.001] except lactate dehydrogenase with less frequent systemic features such as fatigue than antibody-negative IIM. One young girl presented with a Limb–girdle muscular dystrophy (LGMD) with chronic pattern. None of the patients exhibited rashes, statin exposure, or cancer, though one had anti-Ro52 and mild disease. Our observations depict a younger population while affirming previous literature, including NM-like presentation, and chronic LGMD-like pattern of weakness in one case. Although a small number of children were included, ours is one of the few paediatric studies that evaluated HMGCR antibodies thus far. Further investigations in a larger Indian cohort are warranted to substantiate our findings. [ABSTRACT FROM AUTHOR]

Background: Lipid storage myopathies (LSM) constitute an important group of treatable myopathies. Genetic testing is essential for confirming the diagnosis and also helps in explaining phenotypic heterogeneity. The objective of this study was to describe the clinical features and genetic spectrum of LSM seen in a quaternary referral center in India. Methods: Eleven cases of suspected LSM underwent clinical, biochemical, histopathological and genetic evaluation. Tandem Mass Spectrometry and clinical exome sequencing with Sanger validation were performed. Results: All patients had exertion induced myalgia and either progressive or episodic limb girdle muscle weakness (LGMW). The age of onset ranged 10 to 31 years (mean- 21 ± 6.7y), age at presentation- 14 to 49 years (mean- 26.5 ± 9.5y). Mutations identified: ETFDH = 5, CPT2 = 3, FLAD1 = 1, ACADVL = 1, PNPLA2 = 1. Dropped head syndrome was seen in two patients with ETFDH mutations. Bulbar symptoms and Beevor's sign were noted in a patient with FLAD1 variant. Novel variants were identified in seven patients. Conclusions: This is the first report on the genetic spectrum of LSM from India. LSM should be considered in patients with exertion induced myalgias, LGMW, cranial nerve involvement or dropped head syndrome. Genetic testing is essential for identification of these treatable disorders. [ABSTRACT FROM AUTHOR]

• We report a case of TRIM-32 myopathy from India with a novel frameshift mutation. • This patient had a mild phenotype with proximodistal lower limb weakness. • Clinical presentation was distinctive with neurogenic features. • Neurogenic features were noted in muscle biopsy and electromyography. TRIM 32-related Limb Girdle Muscular Dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis of LGMD R8. This is a novel frameshift mutation and one of the very few cases of LGMD R8 reported from India. [ABSTRACT FROM AUTHOR]

Objectives We determined the mortality along with the proportion of disease related adverse events measured individually and by a composite adverse outcome (devised by including deaths, disability, relapses and minimal response) and its predictors in an inception cohort of idiopathic inflammatory myopathies (IIM). Methods IIM from the MyoCite cohort (December 2017–19) were reviewed for early outcomes (mortality, IMACS core set). Comparisons were drawn between those meeting the primary and secondary outcomes. Results Of 70 patients [62 adults, M:F = 1:4.8, age 43 (28.5–51) and eight children, M:F = 1:1, 14.5 (8.8–16)], dermatomyositis (DM) was the most common subset [29 (41.4%) adults; 7 (87.5%) children]. Over 10 (4–15) months, 10 (15.2%) died and four polymyositis were reclassified. One-year survival for anti-melanoma differentiation antigen 5 (MDA5) subtype was 30% and anti-synthetase syndrome (ARS) subtype was 75%. Overall, lower respiratory infections were the most common cause of death [ n  = 3 (30%)] followed closely by malignancy and rapidly progressive interstitial lung disease (RP-ILD). Amongst survivors, a major IMACS response was recorded in 54.5% adults and 100% children. Thirty per cent suffered from moderate to severe disability and 16.7% experienced relapses. Overall, two-thirds accrued the composite adverse outcome. On multivariate analysis, older age and anti-MDA5 predicted mortality. Arthritis, rash and positive ANA reduced and anti-MDA5 increased the risk for the composite adverse outcome. Conclusion Indian patients with IIM suffer high early mortality attributable to infection, cancer and RP-ILD, calling for high vigilance post diagnosis. Autoantibodies and certain clinical features identify risk for composite adverse outcomes. [ABSTRACT FROM AUTHOR]

Objective: Congenital myopathies (CMs) are rare neuromuscular disorders. Through this article, authors want to present a clinicopathological study of 10 cases of CM. Materials and Methods: The study included patients with histopathologically confirmed CM attending the neurology services at the Institute of Human Behavior and Allied Sciences for 2 years. After collecting the demographic data, all patients were subjected to comprehensive workup including a detailed neurological examination and investigations, including muscle biopsy from representative involved muscle. Results: Ten patients diagnosed with CM. The most common CM type was congenital fiber-type disproportion (CFTD) seen in four cases followed by centronuclear myopathy in two cases and one each in desmin-related myopathy, central core disease, nemaline myopathy, CM with type II fiber hypoplasia. Clinically, they have variable features. Conclusion: This study from India highlights the importance of specific clinical features to look for when suspecting a CM coupled with specific features in histopathology. However, studies with longer duration are needed to find out the true prevalence and various spectra of CMs. [ABSTRACT FROM AUTHOR]

Background and purpose: Congenital muscular dystrophies (CMDs) and congenital myopathies (CMs) are a group of genetically and clinically heterogeneous degenerative primary muscle disorders with onset at birth or during infancy. Due to vast heterogeneity, clinical examination and protein‐based analyses often fail to identify the genetic causes of these diseases. The aim of this study was to genetically diagnose a cohort of 36 difficult‐to‐diagnose CMD and CM cases of Indian origin using next‐generation sequencing methods. Methods: Whole‐exome sequencing (WES) was performed to identify pathogenic mutations in previously reported CMD and CM‐related genes using variant calling and stringent variant filtration process. Subsequently, in silico homology modelling and molecular dynamics simulations (MDS) studies were undertaken for a number of novel and missense variants. Results: A total of 33 and 21 rare and deleterious mutations were identified in 28 genes previously reported in CMD and CM based on OMIM, ClinVar and Orphanet, respectively. We could accurately diagnose 54% patients (n = 12/22) in the CMD group and 35% patients (n = 5/14) in the CM group. Furthermore, MDS studies for mutations located in LMNA, LAMA2 and RYR1 suggest that the wild‐type proteins are more stable than their mutant counterparts, implying a potential mechanism of pathogenesis. Conclusion: The WES findings led us to identify reported as well as novel variants for the first time in Indian patients with CMD and CM. This allowed us to achieve an accurate genetic diagnosis, which was difficult using conventional diagnostic tools. Transferring these WES findings to clinical practice will help guide clinical care of the affected patients and inform genetic counselling. [ABSTRACT FROM AUTHOR]

Objective: Inherited myopathies comprise more than 200 different individually rare disease-subtypes, but when combined together they have a high prevalence of 1 in 6,000 individuals across the world. Our goal was to determine for the first time the clinical- and gene-variant spectrum of genetic myopathies in a substantial cohort study of the Indian subcontinent. Methods: In this cohort study, we performed the first large clinical exome sequencing (ES) study with phenotype correlation on 207 clinically well-characterized inherited myopathy-suspected patients from the Indian subcontinent with diverse ethnicities. Results: Clinical-correlation driven definitive molecular diagnosis was established in 49% (101 cases; 95% CI, 42–56%) of patients with the major contributing pathogenicity in either of three genes, GNE (28%; GNE-myopathy), DYSF (25%; Dysferlinopathy), and CAPN3 (19%; Calpainopathy). We identified 65 variant alleles comprising 37 unique variants in these three major genes. Seventy-eight percent of the DYSF patients were homozygous for the detected pathogenic variant, suggesting the need for carrier-testing for autosomal-recessive disorders like Dysferlinopathy that are common in India. We describe the observed clinical spectrum of myopathies including uncommon and rare subtypes in India: Sarcoglycanopathies (SGCA/B/D/G), Collagenopathy (COL6A1/2/3), Anoctaminopathy (ANO5), telethoninopathy (TCAP), Pompe-disease (GAA), Myoadenylate-deaminase-deficiency-myopathy (AMPD1), myotilinopathy (MYOT), laminopathy (LMNA), HSP40-proteinopathy (DNAJB6), Emery-Dreifuss-muscular-dystrophy (EMD), Filaminopathy (FLNC), TRIM32-proteinopathy (TRIM32), POMT1-proteinopathy (POMT1), and Merosin-deficiency-congenital-muscular-dystrophy-type-1 (LAMA2). Thirteen patients harbored pathogenic variants in >1 gene and had unusual clinical features suggesting a possible role of synergistic-heterozygosity/digenic-contribution to disease presentation and progression. Conclusions: Application of clinically correlated ES to myopathy diagnosis has improved our understanding of the clinical and genetic spectrum of different subtypes and their overlaps in Indian patients. This, in turn, will enhance the global gene-variant-disease databases by including data from developing countries/continents for more efficient clinically driven molecular diagnostics. [ABSTRACT FROM AUTHOR]

Dusty core disease (DuCD) is a recently described form of congenital myopathy with clinicopathological implications. The presence of "dusty core fibers" is the defining myopathological feature of DuCD. Most cases have a recessive inheritance and harbor RYR1 mutations. I hereby describe a novel homozygous variant of RYR1 p.Ala3072Asp clinicopathologically compatible with DuCD. To the best of my knowledge, this is the first documented case of DuCD from India. [ABSTRACT FROM AUTHOR]

Introduction: Juvenile dermatomyositis (JDM) is the commonest childhood inflammatory myopathy. Outcome of children with JDM has improved significantly with current treatment protocols. We undertook this study to evaluate long‐term outcome of these children using validated outcome measures. Methods: All children diagnosed as JDM and on follow‐up for more than 2 years were eligible for enrolment. Cross‐sectional examination was performed to assess signs of disease activity, damage, physical function and complications by using multiple validated outcome measures/tools. Results: Thirty‐seven patients were enrolled, 19 were male. Median duration of disease at time of enrolment was 73 months (range 24‐219 months) and median duration of follow‐up was 60 months (range 24‐218 months). Disease course was monocyclic in two‐thirds of patients. Eight children were still on therapy at the time of enrolment. On Manual Muscle Testing 8, 3 and 7 children had severe weakness and mild to moderate weakness, respectively. Neck flexors were the most commonly affected muscle group. On abbreviated Cutaneous Assessment Tool, 14 children had evidence of cutaneous activity. More than 50% had at least 1 sign of cutaneous damage, most common signs being calcinosis and lipodystrophy. Nearly two‐thirds of patients had damage in at least 1 organ using Myositis Damage Index. Nine children had physical dysfunction when assessed by Child Health Assessment Questionnaire. Conclusions: Skin disease continued to be active in a significant proportion of patients. Features of damage, namely calcinosis and lipodystrophy, were seen in more than half. Muscle disease normalized in a large proportion of patients. [ABSTRACT FROM AUTHOR]

The objective of this study is to determine autoantibody profile in children with juvenile dermatomyositis (JDM). Children who were diagnosed with JDM (either recently diagnosed during the study period or follow-up patients) were included in the study. Autoantibodies were detected with commercially available Immunodot kit. Thirty patients were included in the study. Nine out of thirty patients (30%) were positive for one of the 12 autoantibodies tested. Anti-SRP antibody was most common antibody detected in 3 patients followed by anti-MDA-5 antibody in 2 patients; while anti-Jo1 antibody, anti-TIF1-γ antibody, anti-Mi-2 antibody, and anti-PM-Scl antibody were positive in 1 patient each. A different disease phenotype was observed with each autoantibody. The patient with anti-Jo1 antibody had a severe systemic disease in the form of interstitial lung disease; patients with anti-MDA-5 antibody and anti-Mi2 antibody had more severe skin disease with mild muscle disease and patients with anti-SRP antibody had significant skin and muscle disease. Anti-TIF1-γ and anti-PM-Scl antibodies were seen in patients with features of overlap syndrome (myositis-scleroderma). Estimation of autoantibodies may serve as an adjunct tool in delineating and defining distinct clinical phenotypes in children diagnosed with juvenile dermatomyositis. They may also help in prognostication. [ABSTRACT FROM AUTHOR]

Background: GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathy Materials and Methods: Over the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases earlier and from this cohort 12 patients from 11 families underwent genetic testing for GNE mutation. Results: Nine patients belonging to eight families were confirmed as GNE myopathy by genetic analysis. There were six women and three men. Mean age of onset was 26.7 ± 5.47 years (20-36 years) and mean age at clinical examination was 32.3 ± 4.2 years (28-39 years). Mean duration of the illness was 5.7 ± 4.7 years (1-14 years). All had characteristic clinical features of progressive weakness and wasting of the anterior part of leg muscles, adductors of thighs and hamstrings with relative sparing of the quadriceps muscles. Biopsy from the tibialis anterior muscles revealed the presence of rimmed vacuoles. Mutation analysis of the GNE gene revealed that c. 2086G > A (p.Val696Met) change was common in our series like Thailand and six of eight families carried this mutation, heterozygously . Conclusion: These results show the presence of a common mutation in GNE gene in Southeast Asia. [ABSTRACT FROM AUTHOR]

Background: Congenital myopathies (CMs) are rare and they are clinically and genetically heterogeneous. Muscle biopsy is characterized by structural abnormality that is diagnostic. There are few studies from India. Materials and Methods: This is a retrospective study of 12 years. The demographic data, clinical features and laboratory data of patients diagnosed as CMs on muscle biopsy were retrieved from medical records. The slides were reviewed for morphological and structural abnormalities using the following stains hematoxylin and eosin, modified Gomori trichrome, masson trichrome, periodic acid schiff, adenosine triphosphatase preincubated at pH 9.4, 4.6 and 4.3, nicotinamide adenine dinucleotide tetrazolium reductase, succinic dehydrogenase and cytochrome c oxidase. Immunohistochemistry was performed with dystrophin, sarcoglycans and desmin wherever necessary . Results: There were 50 patients with CMs: Centronuclear myopathy (23), myotubular myopathy (3) and central core disease (CCD) (8), nemaline myopathy (5), congenital fiber type proportion (10) and desmin related myopathy with arrythmogenic right ventricular cardiomyopathy (ARVD) (1). Of the 50 patients, 30 (60%) presented in the first decade of life. Proximal muscle weakness and hypotonia were the common presenting features. Type 1 atrophy and predominance were seen in most cases on muscle biopsy . CCD had one patient with high creatine phosphokinase levels, biopsy in one patient showed both rods and cores, in the other limb girdle muscular dystrophy like picture and one biopsy showed uniform type 1 fibers. There was one desmin related myopathy with ARVD, who had cardiac transplantation and both skeletal and cardiac muscle showed characteristic rimmed vacuoles and inclusions positive for desmin. Conclusion: CMs are rare and the diagnosis can only be established on muscle biopsy . Defining the specific CMs helps the clinician in counseling the patient and family. [ABSTRACT FROM AUTHOR]

Objectives: To develop a framework for evaluating the work related musculoskeletal disorders (WRMSDs). Participants: The proposed framework was tested on 15~jewellery manufacturing workers working at Chinchpokhli region in Mumbai, India and on 15 students studying in a management institute of Mumbai, India. Methods: The framework has been broken into three phases. Phase 1 - Ergonomic-risk evaluation; Phase~2 - Musculoskeletal Disorders (MSD) evaluation and Phase 3 - Clinical examination. Ergonomic-risk evaluation determines the relationship between work relatedness and musculoskeletal disorders. Musculoskeletal Disorders (MSD) evaluation tries to assess the presence of discomforts/disabilities in different body regions, through subjective evaluation tools. Ergonomic-risk evaluation involved QEC, PLIBEL and posture analysis by RULA. Musculoskeletal Disorders (MSD) evaluation involved administration of self reported questionnaires. Clinical examination involved muscle grading by a physiotherapist and back strength measurement. Results: The framework suggested that ergonomic risk evaluation techniques, self reported body part questionnaires and physical measurement of physiological/biomechanical transients may have a relationship and can be used for the evaluation of work related musculoskeletal disorders. Conclusion: The proposed integrative approach will help in developing stage wise intervention strategies for work related musculoskeletal disorders. [ABSTRACT FROM AUTHOR]

Tay Sachs disease (TSD) is a neurodegenerative disorder due to b-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene. The clinical inclusion criteria included neuroregression, seizures, exaggerated startle reflex, macrocephaly, cherry red spot on fundus examination and spasticity. Neuroimaging criteria included thalamic hyperdensities on CT scan/T1W images of MRI of the brain. Biochemical criteria included deficiency of hexosaminidase A (less than 2% of total hexosaminidase activity for infantile patients). Total leukocyte hexosaminidase activity was assayed by 4-methylumbelliferyl-N-acetyl-β-D-glucosamine lysis and hexosaminidase A activity was assayed by heat inactivation method and 4-methylumbelliferyl-N-acetyl-β-D-glucosamine-6-sulphate lysis method. The exons and exon-intron boundaries of the HEXA gene were bidirectionally sequenced using an automated sequencer. Mutations were confirmed in parents and looked up in public databases. In silico analysis for mutations was carried out using SIFT, Polyphen2, MutationT@ster and Accelrys Discovery Studio softwares. Fifteen families were included in the study. We identified six novel missense mutations, c.340 G>A (p.E114K), c.964 G>A (p.D322N), c.964 G>T (p.D322Y), c.1178C>G (p.R393P) and c.1385A>T (p.E462V), c.1432 G>A (p.G478R) and two previously reported mutations. c.1277_1278insTATC and c.508C>T (p.R170W). The mutation p.E462V was found in six unrelated families from Gujarat indicating a founder effect. A previously known splice site mutation c.805+1 G>C and another intronic mutation c.672+30 T>G of unknown significance were also identified. Mutations could not be identified in one family. We conclude that TSD patients from Gujarat should be screened for the common mutation p.E462V [ABSTRACT FROM AUTHOR]

Work-related problems, many of which could be prevented with proper ergonomic techniques are particularly common in developing countries. Objective: The aim of this study was to evaluate the work stress and the development of the work-related musculoskeletal disorders (WRMSDs) of workers employed in the jute mills of India. Participants: About 219 male workers engaged in different departments of three jute industries in 24-Parganas (North) and Hooghly districts of West Bengal, India volunteered for this study. Methods: Questionnaires along with direct observation of work postures were conducted. Physical parameters such as body weight, height; physiological parameters like heart rate response, blood pressure and psycho-physiological parameters such as perceived exertion rating were studied during different tasks performed by them. Results: It was observed that the 'hacklers' are mostly stressed. Analyses of working postures (OWAS) suggested that their adopted awkward postures were very stressful. A large number of hacklers (92.5% suffer from intense pain in different body parts as compared to workers in other departments of the jute industries. Workers report that the pain even lasts many hours after work. Conclusions: Since most of the workers perform repetitive tasks, so both the workplace as well as the work-rest schedule must be reorganized. [ABSTRACT FROM AUTHOR]

The study was conducted on 20 farm workers to identify the occupational health hazards in threshing operation. Four different protective masks were given and tested on various parameters. Respondents reported respiratory health problems which were mainly due to heat and organic dust in the surroundings. All respondents reported irritation in eyes and throat followed by nose (85.0%) and ears (75.0%). Musculo-skeletal problems were reported showing severe to very severe discomfort in lower arms (m.s. = 3.8), upper back (3.6) and upper arms (3.4). Overall discomfort score (ODS) was 7.6 depicting high level of discomfort. Peak expiratory flow rate was reduced by 6.6 % depicting reduced capacity of lungs after day long work in polluted environment. Hood mask was highly acceptable as it showed lowest breathing resistance. Leakage of dust from sides and rate of sweating was medium. Hence, use of hood mask would be helpful to achieve the ergonomics objective of reducing health problems and improving performance. [ABSTRACT FROM AUTHOR]

Facioscapulohumeral dystrophy (FSHD) is an autosomal dominant muscular dystrophy. We retrospectively studied three families (two Indian, one Nepalese) with 12 affected members (male:female-7:5). Mean age at onset of weakness was 17.63 + 5.48 years. Patients were classified according to muscle groups affected (F-face, S-scapula, H-humeral, PG-pelvic girdle, P-peroneal, A-loss of independent ambulation): FSH-A (2), four FSH (4), SH (3), FSH-PG (2) and one: F (1). Progression of weakness was classified as F>S>P>PG in eight cases, S> F>P in one, static in three. Eleven patients had electromyographic findings suggestive of myopathy and one had features of neurogenic involvement. Molecular diagnosis was done by southern blotting using probe p13E-11 after digestion of genomic DNA with EcoRI and/or EcoRI/BlnI for twelve patients and three unaffected relatives. No EcoRI fragment smaller than 35 Kb was seen in unaffected subjects. Size of EcoRI fragment varied between 17 kb to 27 kb in affected subjects and was constant for affected members of the same family. Molecular diagnosis by southern blotting has helped to provide genetic counseling for the families. [ABSTRACT FROM AUTHOR]

Primary pyomyositis is infection of the skeletal muscles in the absence of adjacent skin, soft tissue, and bone infection. This study was undertaken to look at the spectrum of clinical presentations, therapeutic interventions, and their outcomes and also to evaluate the association of various risk factors with mortality. This was a retrospective study in which the patients admitted with the diagnosis of primary pyomyositis from January 2000 to June 2007 were included. Their demographic details, clinical and laboratory data, Sequential Organ Failure Assessment (SOFA) score at presentation, treatment instituted, complications encountered, and hospital outcome were recorded. Sixty-seven patients (42 males and 25 females) with a diagnosis of primary pyomyositis were included. Median age at the time of presentation was 37 years (interquartile range = 25–50 years). Common presenting symptoms were myalgias [50 (74.62%)] and fever [49 (73.13%)]. Twenty-six patients had underlying predisposing medical conditions. The commonest muscle group involved was iliopsoas muscles in 31 (46.26%) patients. Methicillin-sensitive Staphylococcus aureus was the commonest organism isolated from the pus. Twenty-eight patients developed sepsis and seven died. On univariate analysis, there was a statistically significant association between higher SOFA score, lower Glasgow coma scale, higher pulse rate, lower blood pressure, raised blood urea, raised serum creatinine, higher serum glutamic pyruvate transaminase, raised total bilirubin at presentation, and development of sepsis during hospital stay with mortality. In our study, the patients were seen almost a decade later than those seen in other studies from the region. Evidence of organ dysfunction at presentation and sepsis was associated with increased mortality. [ABSTRACT FROM AUTHOR]

The clinical features and morphological findings in 2 Indian siblings with tubular aggregates are described. The siblings aged 14 and 9 years, respectively, born of consanguineous marriage presented with early onset gradually progressive lower limb proximal muscle weakness associated with seizures and mental subnormality. Muscle biopsy in both revealed characteristic tubular aggregates in type II fibers, which were confirmed electron microscopically. To the best of our knowledge, association of seizures and mental subnormality in familial tubular aggregates has not been described. Muscle biopsy helped in establishing the diagnosis of this rare familial disorder. [ABSTRACT FROM AUTHOR]

Background: Ullrich congenital muscular dystrophy (UCMD) is a unique congenital disorder characterized clinically by generalized muscle weakness, contractures of the proximal joints and hyperextensibility of the distal joints and begins from birth or early infancy. Materials and Methods: We prospectively evaluated nine cases of classical UCMD and recorded the clinical phenotypic characteristics and the histopathological findings. Results: There were eight boys and one girl child with classical features of severe muscle weakness, prominent proximal contractures, distal hyperlaxity and prominent calcanei. Immunohistochemistry for Collagen VI A1 done on seven cases showed total absence of labeling in six while sarcolemmal-specific deficiency was noted in one case confirming the diagnosis of UCMD. Interestingly, all our patients were noted to have near total absence of major palmar and plantar creases, and instead there were fine mesh-like lines in addition to the soft velvety skin on the palms and soles suggestive of altered collagen arrangements in the skin. Hitherto, this clinical finding has not been described in UCMD in the English literature. [ABSTRACT FROM AUTHOR]

Incidence of post-larval mortalities of 30–100% was reported from commercial freshwater prawn,Macrobrachium rosenbergii(De Man) hatcheries in Andhra Pradesh and Tamil Nadu (south-eastern states of India) since 2001. Infected postlarvae (PL) exhibited clinical symptoms with lethargy, anorexia and whitening of abdominal muscles and the disease was identified as white muscle disease (WMD). The waterborne infection of WMD was induced in the laboratory by exposing uninfected and healthyM. rosenbergiiPL to the filtered muscle homogenates of the naturally infected PL, resulting in mortality that reached 99% within 10 days post infection. Histopathological examination of the infected animals revealed highly necrotic musculature. Degenerated muscle areas showed aggregations of melanized nuclei, many of which looked like inclusion bodies. Bacteriological examination of affected PL showed the presence ofStaphylococcusspp. as a predominant organism, while laboratory challenge of healthy PL with this bacterial isolate did not reproduce WMD. [ABSTRACT FROM AUTHOR]

Leptospirosis is a zoonosis prevalent worldwide and is endemic in many parts of India. In early leptospiremic as well as late immune phase of the disease kidney, liver, heart, and lungs are commonly involved. Neurological manifestations are rare but may occur during immune phase in the form of aseptic meningitis, meningoencephalitis, seizures, myelitis, polyradiculoneuritis, and myalgia. In this report, we describe a rare case of leptospirosis with combined involvement of nerve, muscle, and myoneural junction in generalized fashion along with pulmonary, renal, and hepatic dysfunction. [ABSTRACT FROM AUTHOR]

Workrelated musculoskeletal disorders among the IT professional is a common area of concern worldwide. This study was taken up to analyze the prevalence of risk factors, clinical features and outcome of treatment in onsite clinics in vaious information technology companies in India. Result revealed poor office ergonomics (54%), lack of keyboard tray (25%), lack of mouse tray (35%), lack of foot rest (60%), improper monitor height (80%) were the major self reported risk factors. Major identified MSD were Myofascial Pain Syndrome (49.20%), Thoracic outlet syndrome (25.02%), Fibromyalgia syndrome (8.5%). Majorly affected body regions were neck (64.9%), shoulder (42.1%), lower back (56.5%) and thigh (34.2%). The results were comparable with the literature. Feedback of the participants also revealed most of the participants were well satisfied with SHARAN's protocol. [ABSTRACT FROM AUTHOR]

The article presents a case study on the diagnosis of the contracture of right hind flexor tendon at the level of fetlock and Carpus Valgus of the left forelimb of a calf in India. The intravenous oxytetracycline and polyvinyl chloride (PVC) splint were able to treat the congenital right hind limb flexural deformity and left forelimb carpus valgus. The treatment was able to straighten the right hind limb, and the correction of fore and hind limbs.

In this article the author responds to the article "Clinical and magnetic resonance imaging features of diamond on quadriceps sign in dysferlinopathy," by Sunil Pradhan that is also published in this issue. He notes that the said article which describes the diamond sign in dysferlinopathy is refreshing and interesting. He adds that the author of the said article has brought out peculiarities of clinical features of various muscular dystrophies in India such as the Duchenne Muscular Dystrophy.

The authors reflect on the impact of dysferlinopathy in India. The authors noted that the patients who have dysferlin deficiency are affected in the teens or early adulthood and show dramatic elevation of serum creatine kinase. They added that the results revealed that the future genetic analysis might be able to provide new correlation between dysferlin mutation and clinical phenotype.

The article reflects the opinion of the author on the study conducted among patients in India who suffered from limb girdle muscular dystrophy, a muscular dystrophy characterized by proximal weakness sparing facial, extraocular and distal muscles which usually occur in childhood or adulthood. The author said it is desirable to know that there is a growing concern on the emergence of the disease in India. The author added, the study could help improve the diagnosis of the disease in due time.

Satoyoshi syndrome (Komuragaeri disease) is a rare disorder of presumed autoimmune etiology, characterized by painful muscle spasms, alopecia, diarrhea, endocrinopathy with amenorrhoea and secondary skeletal abnormalities. Most of the previous reports are of the Japanese people. We report the first case from India. [ABSTRACT FROM AUTHOR]