Biomedical subjects
Publications and source records attributed to S Kumar.
Rett syndrome (RS), a neurological developmental disorder, is one of the commonest causes of cognitive impairment in girls and women. These patients are often initially misdiagnosed as idiopathic mental retardation, cerebral palsy, or autism. Despite several reports from the West, there are very few reports from the Indian population. We present four female children with RS and emphasize the importance of early diagnosis.
Vitamin B12 deficiency usually presents with pernicious anemia or various neuropsychiatric manifestations. Commonly seen neuropsychiatric manifestations include large fiber neuropathy, myelopathy (subacute combined degeneration of the spinal cord), dementia, cerebellar ataxia, optic atrophy, psychosis and mood disorders. The present report highlights an unusual presentation of vitamin B12 deficiency- acute onset extrapyramidal syndrome in a 55-year-old man. The patient presented with a 10-day history of slowness of all activities including a slow gait, mild tremors of hands and low volume speech. On examination, he had features of mask-like facies, reduced blink rate and cogwheel rigidity. He was investigated for the possible causes and was found to have laboratory features of vitamin B12 deficiency. Other causes for acute onset parkinsonism were excluded by appropriate investigations. He showed a dramatic improvement following treatment with intramuscular vitamin B12 injections. At a five-year follow up, he was found to be functionally independent with no neurological deficits.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We report a rare case of aortic dissection which fits into De Bakey Type I and Stanford A, presented with severe tearing chest pain, paraplegia, stupor, hypotension, and syncope. Echocardiography showed dissection involving aortic root. MRI showed aortic dissection involving ascending, arch and descending aorta. Patient was managed conservatively and he died within 12 hours after the admission.
Haemangiopericytoma (HPC) is a rare tumour with a predilection for the central nervous system. Though previously thought to originate from the meninges and ventricular walls, HPC's are currently accepted as distinct mesenchymal neoplasms unrelated to meningiomas. Haemangiopericytomas have been previously reported to be associated with the production of insulin like growth factor II (IGF-II) and hypoglycaemia. A case of a 61-year-old poorly controlled diabetic lady with a rare presentation of an abdominal haemangiopericytoma is discussed. A laparoscopic assisted resection of the massive lobulated tumour arising from the parietal peritoneum with dense attachment to the diaphragm and the liver was performed with an uncomplicated postoperative recovery. Control of the patient's diabetes improved dramatically following surgery and the rare association of hyperglycaemia and HPC, which has not been previously described, is elaborated upon in this report.
Cysticercosis consists of infection with the small bladder-like larvae of the pork tapeworm Taenia solium. The life cycle of parasite is maintained between man and pig infected with cysticerci. Epilepsy is the most common presentation of neurocysticercosis; focal signs, headache, involuntary movements and global mental deterioration are other symptoms. Psychosis is a rare presentation and may be seen in up to 5% of patients. We present a 25 years old male, who had been under treatment from psychiatry OPD for psychosis for one year, developed generalized tonic-clonic seizures. CT scan of brain revealed multiple calcified and hypodense lesions with surrounding oedema. Histopathological examination of subcutaneous nodule confirmed the diagnosis of neurocysticercosis.
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We present an improved measurement of CP-violation parameters in B0-->phiK(0)(S), K(+)K(-)K(0)(S), and eta(')K(0)(S) decays based on a 140 fb(-1) data sample collected at the Upsilon(4S) resonance with the Belle detector at the KEKB energy-asymmetric e(+)e(-) collider. One neutral B meson is fully reconstructed in one of the specified decay channels, and the flavor of the accompanying B meson is identified from its decay products. CP-violation parameters for each of the three modes are obtained from the asymmetries in the distributions of the proper-time intervals between the two B decays. We find that the observed CP asymmetry in the B-->phiK(0)(S) decay differs from the standard model (SM) expectation by 3.5 standard deviations, while the other cases are consistent with the SM.
We report the observation of a narrow charmoniumlike state produced in the exclusive decay process B+/--->K+/-pi(+)pi(-)J/psi. This state, which decays into pi(+)pi(-)J/psi, has a mass of 3872.0+/-0.6(stat)+/-0.5(syst) MeV, a value that is very near the M(D0)+M(D(*0)) mass threshold. The results are based on an analysis of 152M B-Bmacr; events collected at the Upsilon(4S) resonance in the Belle detector at the KEKB collider. The signal has a statistical significance that is in excess of 10sigma.
The absorption of rifampin, isoniazid, and D-xylose in patients with human immunodeficiency virus (HIV) infection and diarrhea, in patients with HIV infection and tuberculosis (TB), in patients with pulmonary TB alone, and in healthy subjects was studied. Percentage of dose of the drugs, their metabolites, and D-xylose excreted in urine were calculated. A significant reduction in the absorption of drugs and D-xylose in both the HIV infection/diarrhea and HIV infection/TB groups was observed (P<.05), and the correlation between them was significant. Our results indicate that patients with HIV infection and diarrhea and those with HIV infection and TB have malabsorption of rifampin and isoniazid.
We report evidence for the decay mode B-->phiphiK based on an analysis of 78 fb(-1) of data collected with the Belle detector at KEKB. This is the first example of a b-->sssss transition. The branching fraction for this decay is measured to be B(B+/--->phiphiK+/-)=(2.6(+1.1)(-0.9)+/-0.3)x10(-6) for a phiphi invariant mass below 2.85 GeV/c(2). Results for other related charmonium decay modes are also reported.
We report the first observation of the charmless vector-vector decay process B-/+-->rho(-/+)rho(0). The measurement uses a 78 fb(-1) data sample collected with the Belle detector at the KEKB asymmetric e(+)e(-) collider operating at the Upsilon(4S) resonance. We obtain a branching fraction of B(B-/+-->rho(-/+)rho(0))=[31.7+/-7.1(stat)+3.8-6.7(syst)]x10(-6). An analysis of the rho helicity-angle distributions gives a longitudinal polarization fraction of Gamma(L)/Gamma=0.95+/-0.11(stat)+/-0.02(syst). We also measure the direct-CP-violating asymmetry A(CP)(B-/+-->rho(-/+)rho(0))=0.00+/-0.22(stat)+/-0.03(syst).
Immune thrombocytopenic purpura (ITP) is an autoimmune disease characterized by autoantibody-mediated destruction of platelets. The disease generally runs a mild clinical course, though significant morbidity and mortality can occur. Steroids and/or splenectomy are effective in treating the disease in approximately 70% of patients. These treatments have been well established with approximately 50 years of clinical experience. While open splenectomy is the traditional surgical procedure, laparoscopic splenectomy, splenic artery embolization, and splenic irradiation are viable alternatives. For patients who relapse after the above therapies, treatment is more difficult and seldom results in a cure. The goals of therapy involve maintaining a safe platelet count while minimizing toxicities from the treatment. Multiple treatment options exist including corticosteroids, androgens, immunomodulatory drugs, cytotoxic chemotherapy, immunoglobulin preparations, bone marrow transplantation, Helicobacter pylori eradication, and others. While the standard treatment of steroids and splenectomy has changed little over the past decades, a number of promising new therapies on the horizon may soon join the armamentarium upon which the clinician can draw to fight the disease. In this review, we will examine treatment for chronic ITP in adults in the pre-splenectomy, splenectomy, and post-splenectomy settings.
Vascular endothelial growth factor-C (VEGF-C) and VEGF-D are members of the VEGF family of cytokines and have angiogenic and lymphangiogenic actions. In gastric adenocarcinoma, VEGF-C mRNA and tissue protein expression correlate with lymphatic invasion, lymph node metastasis and in some reports, venous invasion and reduced 5-year survival. Patients with gastric adenocarcinomas containing high levels of VEGF-C expression have significantly reduced 5-year survival rates, and VEGF-C expression is an independent prognostic risk factor for death. The role of VEGF-C in oesophageal squamous and colorectal cancer and VEGF-D in colorectal cancer is not clear, with conflicting reports in the published literature. In order to exploit potential therapeutic applications, further research is necessary to define the precise roles of these cytokines in health and disease.
Linkage analysis is commonly used to find marker-trait associations within the full-sib families of forest tree and other species. Study of marker-trait associations at the population level is termed linkage-disequilibrium (LD) mapping. A female-tester design comprising 200 full-sib families generated by crossing 40 pollen parents with five female parents was used to assess the relationship between the marker-allele frequency classes obtained from parental genotypes at SSR marker loci and the full-sib family performance (average predicted breeding value of two parents) in radiata pine ( Pinus radiata D. Don). For alleles (at a marker locus) that showed significant association, the copy number of that allele in the parents was significantly correlated, either positively or negatively, with the full-sib family performance for various economic traits. Regression of parental breeding value on its genotype at marker loci revealed that most of the markers that showed significant association with full-sib family performance were not significantly associated with the parental breeding values. This suggests that over-representation of the female parents in our sample of 200 full-sib families could have biased the process of detecting marker-trait associations. The evidence for the existence of marker-trait LD in the population studied is rather weak and would require further testing. The exact test for genotypic disequilibrium between pairs of linked or unlinked marker loci revealed non-significant LD. Observed genotypic frequencies at several marker loci were significantly different from the expected Hardy-Weinberg equilibrium. The possibilities of utilising marker-trait associations for early selection, among-family selection and selecting parents for the next generation of breeding are also discussed.