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Biomedical subjects

N Varma

Publications and source records attributed to N Varma.

At least 37 records · Page 2Linked to original sources

Cryptococcal prostatitis in a patient with chronic lymphocytic leukemia.

Cryptococcosis is a systemic mycosis usually affecting patients of immunodeficiency i.e. transplants recipients, patients on chemotherapy for neoplastic diseases and in those suffering from human immunodeficiency virus infection. We report a 52-year old male suffering from chronic lymphocytic leukemia (CLL) on chemotherapy who presented with fever and features of prostatism. Cryptococcus neoformans infection (CN) was diagnosed on aspiration of a prostatic nodule. Subsequent investigations revealed a disseminated involvement by cryptococcus. The case represents an unusual presentation of disseminated cryptococcosis.

Antifungal Agents↗

Molecular mechanism involved in TPA-induced myelopoietic programming.

The study, addressed to understand the mechanism responsible for 12-O-tetradecanoyl phorbol-13-acetate (TPA)-induced myeloid differentiation, revealed that the inherent capacity of TPA to induce expression of Receptor-C(K) in HL-60 cells (which are unable to express Receptor-C(K) in their native state) is responsible for its ability to induce phenotypic differentiation of HL-60 cells. Based upon these results, we propose that Receptor-C(K) dependent signalling is the Critical 'Molecular Switch' responsible for TPA-induced myelopoietic programming.

Cell Differentiation↗

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been shown to be caused by mutations in the DKC1 gene. The gene encodes a 514-amino-acid protein, dyskerin, that is homologous to Saccharomyces cerevisiae Cbf5p and rat Nap57 proteins. By analogy to the homologues in other species, dyskerin is predicted to be a nucleolar protein with a role in both the biogenesis of ribosomes and, in particular, the pseudouridylation of rRNA precursors. We have determined the genomic structure of the DKC1 gene; it consists of 15 exons spanning a region of 15 kb. This has enabled us to screen for mutations in the genomic DNA, by using SSCP analysis. Mutations were detected in 21 of 37 additional families with dyskeratosis congenita that were analyzed. These mutations consisted of 11 different single-nucleotide substitutions, which resulted in 10 missense mutations and 1 putative splicing mutation within an intron. The missense change A353V was observed in 10 different families and was shown to be a recurring de novo event. Two polymorphisms were also detected, one of which resulted in the insertion of an additional lysine in the carboxy-terminal polylysine domain. It is apparent that X-linked dyskeratosis congenita is predominantly caused by missense mutations; the precise effect on the function of dyskerin remains to be determined.

Amino Acid Sequence↗

Value of inpatient diagnostic CCTV-EEG monitoring in the elderly.

PURPOSE: To examine the outcome of inpatient diagnostic closed circuit TV-EEG (CCTV-EEG) monitoring in a consecutive series of elderly patients admitted to an adult epilepsy-monitoring unit (EMU) over a continuous 6-year period. METHODS: Retrospective review of all admissions to a university hospital adult EMU. Those older than 60 years were identified. Patients who were monitored for status epilepticus were excluded. Data on duration of events, frequency of events, physical examination, medications, preadmission EEG, brain imaging, length of stay, and interictal and ictal EEG were obtained. RESULTS: Of the 18 patients admitted for monitoring only, mean age was 69.5 years (range, 60-90 years). Mean length of stay was 4.3 days (range, 2-9 days). Five patients had complex partial seizures recorded. Three patients, all treated with anti-epileptic drugs (AEDs), had no spells recorded, and no additional diagnostic information was gained from the admission. The other 10 patients, eight of whom had been treated with AEDs, were symptomatic during their admission, leading to a variety of neurologic but not epileptic, psychiatric, or other medical disorders, and allowing tapering of AEDs. CONCLUSIONS: In elderly patients with suspected epilepsy, CCTV-EEG is a very useful diagnostic tool. In this series of 18, 10 patients were diagnosed with potentially treatable medical illnesses not responsive to AEDs.

Adult↗

Impaired lusitropy-frequency in the aging mouse: role of Ca(2+)-handling proteins and effects of isoproterenol.

We examined the relationship between age-associated lusitropic impairment, heart rate, and Ca(2+)-handling proteins and assessed the efficacy of increasing left ventricular (LV) relaxation via beta-adrenergic stimulation in adult and aging mouse hearts. LV function was measured in isolated, isovolumic blood-perfused hearts from adult (5 mo), old (24 mo), and senescent (34 mo) mice. Hearts were paced from 5 to 10 Hz, returned to 7 Hz, exposed to 10(-6) M isoproterenol, and paced again from 7 to 10 Hz. Age-related alterations in Na(+)/Ca(2+) exchanger (NCX), sarcoplasmic reticulum (SR) Ca(2+)-ATPase (SERCA2a), and phospholamban (PLB) levels were assessed by immunoblot. Despite preserved contractile performance, aging caused impaired lusitropy. Increased pacing caused an elevation in end-diastolic pressure that progressively worsened with age. The time constant of isovolumic pressure decay (tau) was significantly prolonged in old and senescent hearts compared with adults. Relative to adult hearts, the SERCA2a-to-PLB ratios were reduced 68 and 69%, and NCX were reduced 37 and 58% in old and senescent hearts, respectively. Isoproterenol completely reversed the age-associated lusitropic impairments. These data suggest that impaired lusitropy in aging mouse hearts is related to a decreased rate of cytosolic Ca(2+) removal and that accelerating SR Ca(2+) resequestration via beta-adrenergic stimulation can reverse this impairment.

Adrenergic beta-Agonists↗

Disseminated histoplasmosis 19 years after renal transplantation.

Infections with fungi like Histoplasma are rarely seen in immunocompromized patients. We report the case of a renal transplant recipient who presented with fever and was diagnosed to have disseminated histoplasmosis 19 years after transplant. The pitfalls in making a diagnosis in non-endemic areas are discussed. The literature on renal transplantation recipients with histoplasmosis has been reviewed.

Adult↗

Pulmonary functions in Indian sportsmen playing different sports.

Regular exercise has proved to be beneficial for the human body and the lungs are no exception. The present study was undertaken to assess the relation between the quality of exercise performed and the quantitative effect of these exercises on the lungs. Pulmonary function tests of sportsmen engaged in various sports were compared with each other and with that of the controls. Players playing football (n=18), hockey (n=19), volleyball (n=20), swimming (n=20) and basketball (n=18) were chosen for this study. Medical students (n=20) were chosen as controls. The parameters taken into account in this study were forced vital capacity (FVC), forced expiratory volume (FEV-1), and peak expiratory flow rate (PEFR). The results indicate that all the sportspersons had a higher values of lung functions compared to the controls. Among the various groups of players chosen for this study, the swimmers showed the maximum increase in their lung functions.

Adult↗

Ictal patterns in temporal lobe epilepsy recorded by epidural screw electrodes.

In a consecutive series of 11 patients with a history of medically refractory temporal lobe epilepsy, we studied the appearance of ictal patterns detected by epidural screw electrodes (ESE) placed in an effort to obviate depth electrode recording. All had prior scalp-sphenoidal monitoring with significant obscuration of ictal EEG by movement and muscle artifact. Six to 10 ESE were placed at bilateral temporal locations of the 10% system. Ictal findings in 4-15 partial seizures from 8 patients with mesiobasal (MBTLE) and 3 patients with neocortical (NCTLE) epilepsy were correlated with imaging and histology. Five of 8 patients with MBTLE had discrete high frequency discharges at onset, evolving within 10 s to focal theta at ESE, before appearing at scalp electrodes. All had Class IA outcome with mesial temporal sclerosis (MTS). Three of 8 patients with MBTLE and MTS had less discrete onsets, with Class 1A, 1B and 3A outcomes. Two patients with NCTLE had lesions; a grade II oligoastrocytoma with rhythmic delta at ESE and Class 4 outcome, and an anterior temporal cavernous angioma with variable onsets, some of which were high frequency, with a Class 1A outcome. The third NCTLE patient demonstrated focal theta as an ictal pattern, had no lesion and a Class 1A outcome. Ictal onsets may be well localized in selected patients by ESE. A majority of patients with MTS display well defined high frequency ictal discharges.

Adolescent↗

Therapy of "idiopathic" ventricular tachycardia.

Idiopathic ventricular tachycardias occur in "normal" hearts and are generally benign arrhythmias. They can arise from either the left or right ventricle, and the origin is usually predictable from the surface ECG. These arrhythmias are produced by diverse mechanisms. When treatment is indicated, empiric pharmacotherapy can be successful. However, if drugs are not tolerated or fail, radiofrequency (RF) ablation may be indicated. During electrophysiologic study, arrhythmia mechanism can be determined, and pace and activation mapping can be used to localize the site of ventricular tachycardia origin to direct application of RF lesions. RF ablative therapy has been associated with high success rates.

Electrophysiology↗

Histological and clinical evolution patterns of chronic myelocytic leukemia.

Trephine biopsies of 101 chronic myelocytic leukaemia (CML) patients were analysed to study the relationship between initial and subsequent histological features vis-a-vis clinical behaviour of the disease. The patients with blast crisis at presentation were excluded. At diagnosis 62 (61.4%) patients revealed granulocytic-megakaryocytic (gran-meg) proliferation whereas granulocytic (gran) proliferation was found in 39 (38.6%) patients. Gran pattern at diagnosis was associated with shorter survival and early evolution into blast crisis (36.8%) in 12 months, although the difference in the total incidence of blast crisis between the two histological groups was not statistically significant. Myelofibrosis was detected in more number of cases on follow up (89.1%) as compared to the initial biopsies (80.2%). However myelofibrosis did not correlate with initial cellular composition, overall survival or the phase of CML (P > 0.05). Transition from one histological type to another was observed in 15 out of 60 (25%) cases while remaining in the chronic phase.

Biopsy, Needle↗

Co-expression of two FAB-specific chromosome changes, t(15;17) and t(8;21), in a case of acute promyelocytic leukemia.

We describe a case of acute promyelocytic leukemia ANLL-M3 with association of t(15;17) and t(8;21) and various chromosomal aberrations. Clinically, immunologically, and morphologically, our patient fits the diagnosis of typical ANLL-M3. The co-existence of two specific FAB chromosomal translocations in a single leukemic clone is rare. The rarity of this association enhances the significance of this report.

Adult↗

Role of immunophenotyping in characterisation of blast crisis of chronic myeloid leukemia--a study of 25 cases.

The blast cell populations of 25 patients of chronic myeloid leukemia in blast crisis (CML-BC) were studied for morphological, cytochemical and immunophenotypic features. The patients were divided into 6 broad groups based upon the pattern of surface marker positivity-myeloblastic, mixed myeloblastic, megakaryoblastic, mixed lineage, lymphoid and undifferentiated blast crisis. Myeloperoxidase (MPO), Sudan Black B (SBB) and Chloroacetate esterase (CAE) stains showed 100% specificity for the myelomonocytic lineage but the sensitivity was low. Periodic acid Schiff (PAS) stain was neither specific nor sensitive for the lymphoid lineage. Immunophenotyping as compared to morphologic and cytochemical assessment, was seen to be most useful for assigning a lineage to leukemic cells in CML-BC.

Adult↗