Association of the genetic variants of endothelial nitric oxide synthase gene with angiographically defined coronary artery disease and myocardial infarction in South Indian patients with type 2 diabetes mellitus
Narne P.,Osmania University |
Ponnaluri K.C.,Osmania University |
Singh S.,Kamineni Hospital |
Ishaq M.,Osmania University
Journal of Diabetes and its Complications | Year: 2013
Introduction: The polymorphic variants of endothelial nitric oxide synthase (eNOS) gene have been implicated in endothelial dysfunction and are highly relevant to macroangiopathies. We investigated the relationship between eNOS gene T-786C, G894T, intron 4a/b polymorphisms and coronary artery disease (CAD) in South Indian type 2 diabetic (T2DM) individuals. Methods: We screened 283 T2DM patients, inclusive of 160 with angiographically defined CAD, 73 with myocardial infarction (MI), 89 without MI and 121 T2DM individuals with no evidence of CAD for eNOS gene polymorphisms. Results: There appeared to be a significant difference in the genotype and allele distribution of eNOS T-786C polymorphism between T2DM groups with and without CAD (p = 0.004), albeit no significant association with MI was observed. The frequencies of TC and CC genotypes and - 786C allele were considerably higher in patients with triple vessel disease (TVD) as compared to those without CAD (p = 0.003), thereby associating this polymorphism with severity of CAD. Genotype and allele distributions of G894T and intron 4a/b polymorphisms were not significantly different between T2DM subjects with and without CAD/MI. Significant linkage disequilibrium was observed between intron 4a/b and T-786C polymorphisms. Multiple logistic regression analysis revealed a significant and independent association of eNOS T-786C polymorphism and other putative risk factors with CAD/TVD in T2DM individuals. Conclusions: These findings reveal a significant association between eNOS T-786C polymorphism, CAD/TVD and coincident putative risk factors in T2DM individuals in South Indian population. © 2013 Elsevier Inc.
PubMed | Kamineni Hospital, SAT Hospital, Amrita Institute of Medical science, Maulana Azad Medical College and 8 more.
Type: Journal Article | Journal: Clinical genetics | Year: 2016
Mucopolysaccharidoses (MPS), a subgroup of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-l-iduronidase (IDUA) for MPS I and 500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type II disorders in Indian population is not characterized yet. In this study, we carried out clinical, biochemical, molecular and in silico analyses to establish the mutation spectrum of MPS I and MPS II in the Indian population. We conducted molecular analysis for 60 MPS-affected patients [MPS I (n=30) (Hurler syndrome=17, Hurler-Scheie syndrome=13), and MPS II (n=30) (severe=18, attenuated=12)] and identified a total of 44 [MPS I (n=22) and MPS II (n=22)] different pathogenic variants comprising missense, nonsense, frameshift, gross deletions and splice site variants. A total of 20 [MPS I (n=14), and MPS II (n=6)] novel pathogenic sequence variants were identified in our patient cohort. We found that 32% of pathogenic variants detected in IDUA were recurrent and 25% in MPS II. This is the first study revealing the mutation spectrum of MPS I and MPS II patients in the Indian population.
Shailaja S.R.,Panineeya Dental College and Research Center |
Manika,Panineeya Dental College and Research Center |
Manjula M.,Government Dental College |
Kumar L.V.,Kamineni Hospital
Dentomaxillofacial Radiology | Year: 2012
Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. © 2012 The British Institute of Radiology.
Sharma D.,Fernandez Hospital |
Murki A.,Kamineni Hospital |
Murki S.,Fernandez Hospital |
Pratap O.T.,Fernandez Hospital
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2015
Sepsis and necrotizing enterocolitis (NEC) cause significant morbidity and mortality in the newborn. Their ill effects persist in spite of appropriate and effective antibiotic therapy. Lactoferrin as an adjunct to antibiotics in the treatment of sepsis or NEC in the newborn may improve the clinical outcomes by enhancing the host defense and modulating the inflammatory response. This review focuses on the various aspects of lactoferrin use in the newborn. © 2014 Informa UK Ltd. All rights reserved.
Vasavi M.,Kamineni Hospital |
Vedicherala B.,Bhagwan Mahavir Medical Research Center |
Vattam K.K.,Kamineni Hospital |
Ahuja Y.R.,Vasavi Medical and Research Center |
And 2 more authors.
Genetic Testing and Molecular Biomarkers | Year: 2010
The last few decades of cancer research indicate that DNA damage is a prerequisite for development of malignancies. An increase in damage points to reduced repair capacity and risk for progression. We have used the comet assay to assess DNA damage in individuals with various disorders of the upper gastrointestinal (GI) tract in a cohort of patients from South India. After thorough clinical, endoscopic, and histopathological evaluation, patients were categorized into cancers, precancers, inflammatory pathologies, and controls. Results from the comet assay performed on esophageal tissue cells and blood from the same patients showed good correlation of damage in the paired samples; subsequent assays were performed in blood. There was more DNA damage in cancers when compared with controls. A significant increase in damage in cancers (37%) and precancers (30.7%) when compared with the inflammatory pathologies (15.6%) and controls (10.03%) was noted. The interindividual variation observed was independent of confounding factors such as tobacco and alcohol. We suggest that the damage seen in the esophageal tissue is likely to be disease-related, whereas that seen in blood may be a reflection of disease. Individuals with greater damage may be prone to disease progression and the comet assay can be used as a cost-effective biomonitoring tool to assess damage and identify these individuals at risk for a progressive pathology, even to malignancy. © 2010, Mary Ann Liebert, Inc.
Alhomidi M.A.,Bhagavan Mahavir Medical and Research Center |
Alhomidi M.A.,Osmania University |
Vedicherla B.,Bhagavan Mahavir Medical and Research Center |
Movva S.,Vasavi Medical and Research Center |
And 5 more authors.
Tumor Biology | Year: 2013
Somatic mutations in mitochondrial DNA (mtDNA) have been demonstrated in various tumors. Mitochondrial D-loop is a non-coding region in the mitochondrial genome, which has essential transcription and replication elements, and alterations in this region may affect both these processes. The D-loop has a poly-C tract (PCT) located between 303 and 315 nucleotides known as D310, which has been identified as a frequent hot spot mutation region in human neoplasia. In the present study, 77 pairs of breast tumor and adjacent non-tumorous tissue samples were analyzed by polymerase chain reaction-single-strand conformational polymorphism, restriction fragment length polymorphism, and sequencing to evaluate the frequency of D310 (PCT) mutations and its association with clinicopathologic parameters of breast cancer. Alterations were detected in 25 of 77 (32.5 %) breast cancer samples; these included 7/25 (28 %) cases with heteroplasmy. This is the first study from Asian Indian breast cancer (BC) patients indicating a relatively high frequency of D310 mutations, suggesting that mtDNA instability at D310 may be a common characteristic of BC. However, 66.7 % of the alterations were observed in stage II BC, indicating that this may be a more important change for early progression of the disease rather than its initiation. © 2013 International Society of Oncology and BioMarkers (ISOBM).
Mishra S.,Kamineni Hospital
Journal of the Indian Medical Association | Year: 2016
The opsoclonus-myoclonus syndrome is a rare and distinct neurological disorder consisting of opsoclonus, characterized by rapid multidirectional conjugate eye movements, involuntary movement (myoclonus) and ataxia, along with behavioral changes in adults. Sometimes, it is due to infectious brainstem encephalitis, possibly viral origin, but it may also represent a nonmetastatic manifestation of neuroblastoma in children and small cell carcinoma of the lung in adults. In this article, I describe a rare case report of opsoclonus-myoclonus syndrome due to the dengue virus. © 2016, Indian Medical Association. All rights reserved.
Aggarwal A.,PGIMER |
Salunke P.,PGIMER |
Shekhar B.,Kamineni Hospital |
Chhabra R.,PGIMER |
And 3 more authors.
Surgical Neurology International | Year: 2013
Background: Obtaining tissue confirmation of the underlying pathology is the gold standard for establishing the etiology of nontraumatic vertebral compression fractures. However, newer investigative modalities such as the magnetic resonance imaging (MRI) and positron emission tomography-computed tomography (PET-CT) combined potentially offer the ability to distinguish between benign and malignant lesions, thereby circumventing the need for invasive tissue diagnostic/biopsy procedures. Methods: Twenty-four patients with nontraumatic, spontaneous vertebral compression fractures were prospectively studied. After clinical evaluation, all patients underwent MRI (with/without contrast) focusing on the spinal lesion, followed by whole-body PET-CT. This was followed by fine needle aspiration cytology (FNAC) of the lesion to confirm the diagnosis. The sensitivity and specificity of MRI and PET-CT studies were calculated for benign vs. malignant lesions. Results: The sensitivity/ specificity of MRI for benign lesions were 78.57%/90%, while the sensitivity/specificity values of PET-CT for benign disease were 92.8%/90% respectively. Alternatively, the sensitivity/specificity of MRI for malignant lesions were 90%/78.57%, while the sensitivity/specificity of PET-CT for malignant disease were 90%/92.8%, respectively. Furthermore, the sensitivity for diagnosing malignant lesions utilizing both studies together was 100%, but the algorithm was not specific. Additionally, the specificity for MRI and PET-CT combined was 100% for benign lesions. PET-CT also helped in monitoring responses to empirical antitubercular treatment (ATT) therapy. Of interest, FNAC was inconclusive in four cases in which PET-CT findings helped further in either obtaining a tissue diagnosis from another location or institution of empirical therapy in suspected cases of tuberculosis. Conclusions: The specificity for MRI and PET-CT combined was 100% for benign lesions. Unfortunately, the specificity for MRI and PET-CT combined was not 100% for malignant vertebral lesions, though it was sensitive. The PET-CT scan was an extremely useful tool when FNAC from the affected site proved inconclusive. It gave additional information regarding the overall extent of disease, while identifying other locations amenable to FNAC. Furthermore, in countries where tuberculosis is endemic, the empirical response to ATT therapy could be monitored utilizing PET-CT.Copyright: © 2013 Li CH.
Murki A.,Kamineni Hospital |
Dhope S.,Kamineni Hospital |
Kamineni V.,Kamineni Hospital
Journal of Maternal-Fetal and Neonatal Medicine | Year: 2016
Aim: To evaluate and compare the feto-maternal outcomes of pregnant women with potentially life-threatening complications (PLTC) and near miss events admitted to the obstetric high dependency units (OHDU). Methods: Pregnant women with PLTC admitted to the OHDU were enrolled. Feto-maternal outcomes, need for NICU admission and neonatal mortality, were compared between women without near miss events (controls) and those with near miss events. Results: Of the 1505 admissions to the obstetric department during the study period, 1127 delivered at our hospital. Among the deliveries 125 (11%) women were admitted to the OHDU and 19 (15%) of them were referred to the intensive care unit (ICU) of the hospital. The incidence of near miss morbidity (n = 46) was 37% among the mothers admitted to OHDU and 4.1% among the deliveries. The outcomes were similar in both groups for mean birth weight (among live births), neonatal death and still birth or intra-uterine deaths. The mean duration of ICU stay, proportion of ICU admission, and the mean duration of hospital stay were significantly higher for women with near miss events. Conclusion: In the presence of standardized OHDU and an ICU, the feto-maternal outcomes of women with PLTC and near miss event are similar to those without near miss events. © 2016 Informa UK Limited, trading as Taylor & Francis Group.
PubMed | Kamineni Hospital
Type: Journal Article | Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians | Year: 2016
To evaluate and compare the feto-maternal outcomes of pregnant women with potentially life-threatening complications (PLTC) and near miss events admitted to the obstetric high dependency units (OHDU).Pregnant women with PLTC admitted to the OHDU were enrolled. Feto-maternal outcomes, need for NICU admission and neonatal mortality, were compared between women without near miss events (controls) and those with near miss events.Of the 1505 admissions to the obstetric department during the study period, 1127 delivered at our hospital. Among the deliveries 125 (11%) women were admitted to the OHDU and 19 (15%) of them were referred to the intensive care unit (ICU) of the hospital. The incidence of near miss morbidity (n=46) was 37% among the mothers admitted to OHDU and 4.1% among the deliveries. The outcomes were similar in both groups for mean birth weight (among live births), neonatal death and still birth or intra-uterine deaths. The mean duration of ICU stay, proportion of ICU admission, and the mean duration of hospital stay were significantly higher for women with near miss events.In the presence of standardized OHDU and an ICU, the feto-maternal outcomes of women with PLTC and near miss event are similar to those without near miss events.