Human genetic bi-allelic sequences (HGBASE), a database of intra-genic polymorphisms.
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Biomedical subjects
Publications and source records attributed to C Sarkar.
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Myxopapillary ependymomas are a benign variant of ependymomas, occurring almost exclusively in the cauda equina region. We report an extremely rare case of myxopapillary ependymoma located in the left anterior temporal lobe. A 22-year-old man is presented with intractable seizures of 2 years duration with no focal neurologic deficits. Imaging of the brain revealed a well-circumscribed heterogeneous mass in the left anterior temporal pole with no connection to the ventricles. Imaging of the spine was normal. The patient underwent surgical removal of the tumor and at follow-up 4 months after surgery, there was improvement in his memory and speech along with complete cessation of seizures. Microscopic examination revealed the tumor to be a myxopapillary ependymoma, further confirmed by histochemical and immunohistochemical stains. To the best of our knowledge, this is the first documentation of myxopapillary ependymoma at this location and consequently, the first case to clinically present as intractable temporal lobe epilepsy.
Primary systemic or AL amyloidosis is a multisystem disorder characterized by diffuse extracellular infiltration of a fibrillar protein of monoclonal light chain origin (AL). Majority of the patients have monoclonal immunoglobulin in serum and/or urine and some have clonal proliferation of plasma cells in their bone marrow. This disease has the widest spectrum of organ involvement, most commonly affecting the kidneys, heart and liver. Involvement of peripheral nervous system is not infrequent and may be the presenting feature of the disease process. Thus, recognition of peripheral neuropathy and affecting the kidney as an early symptom of AL amyloidosis may widen the scope for therapeutic intervention. We describe here a rare case of primary amyloidosis (AL) kappa-light chain presenting with clinical features of peripheral neuropathy and affecting the kidney and heart at an early age of 18 years, hitherto unreported in literature. The case was further interesting as it was not associated with increased serum/urine immunoglobulins or plasma cells in bone marrow. Diagnosis was confirmed using immuno-electron microscopy on sural nerve biopsy.
Aspergillosis of spine is a very rare entity generally seen secondary to a primary focus in the lung with or without immune suppression. The authors report one case of aspergillosis of spine without evidence of a primary elsewhere or a predisposing cause.
Introduction of 'silent' exocrine atrophy (and endocrine 'enrichment') in pancreatic grafts following ductular blockade may have a role in human diabetes by circumventing currently elusive islet isolation/purification protocols. To explore this potential, pancreatic isografts were performed in 12 pairs of inbred Wistar NIN rats. Donor pancreatectomy was performed after distal clamping and canulation of common bile duct and injection of 0.5 ml. polyacrylamide gel (blocked n = 7) or normal saline (un-blocked n = 5) respectively. One to 2 m.m. fragments of the resulting mildly distended pancreases were transplanted in to 2 sites (renal capsule and iliac fossa subcutaneously) of cach recipient. Post-operative biopsies of the transplanted grafts (unilateral nephrectomy and iliac fossa biopsies) revealed macroscopic and microscopic evidence of necrotizing pancreatitis in both the groups at both the sites (histiocytic and giant cell infiltration, fat necrosis and focal calcification with destruction of exocrine and endocrine cells) as early as 1 and 3 weeks. Possible detrimental factors include: volume and pressure of ductal injection, graft sites (confined spaces), post-operative wound infection and bio-compatibility of the material used for ductular blockade.
BACKGROUND: Dystrophin, a protein situated on the plasma membrane of skeletal muscle has been found to be abnormal in quality and quantity in patients with muscular dystrophies and may be useful in distinguishing between the different types. Experience with the technique has been limited to western countries. METHODS: We used dystrophin staining with monoclonal NCL-DYS (rod domain) antidystrophin antibody using the avidin-biotin conjugate immunoperoxidase technique in 16 out of 20 patients with various types of muscular dystrophies at a large tertiary care medical centre in India. RESULTS: The technique was unsuccessful in 4 cases. In the others the dystrophin staining pattern correlated well with the clinical diagnosis in 11 out of 16 patients. In the other 5 patients dystrophin assay helped to differentiate between Duchenne muscular dystrophy and the Becker muscular dystrophy in 2 patients suspected to have limb-girdle muscular dystrophy, it differentiated Duchenne muscular dystrophy from the Emery-Dreifuss muscular dystrophy and detected a manifest female carrier with Duchenne's dystrophy. CONCLUSION: Dystrophin staining may be useful in the differential diagnosis of patients with muscular dystrophies in India.
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