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  • 1
    Online Resource
    Online Resource
    Cardiovascular risk reduction with icosapent ethyl
    Ovid Technologies (Wolters Kluwer Health) ; 2019
    In:  Current Opinion in Cardiology Vol. 34, No. 6 ( 2019-11), p. 721-727
    Details
    In: Current Opinion in Cardiology, Ovid Technologies (Wolters Kluwer Health), Vol. 34, No. 6 ( 2019-11), p. 721-727
    Type of Medium: Online Resource
    ISSN: 0268-4705
    URL: Article
    DOI: 10.1097/HCO.0000000000000678
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
    detail.hit.zdb_id: 2026894-4
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  • 2
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    Study of etiology of pleural effusion in Telangana population
    Medip Academy ; 2019
    In:  International Journal of Advances in Medicine Vol. 6, No. 6 ( 2019-11-25), p. 1798-
    Details
    In: International Journal of Advances in Medicine, Medip Academy, Vol. 6, No. 6 ( 2019-11-25), p. 1798-
    Abstract: Background: Among 86 patients aged between 18 to 65 of both sexes having pleural effusion due to various clinical etiologies were studied.Methods: Chest x-ray PA. was studied, 20 ml of pleural fluid was aspirated to study bio-chemically, microbiologically and pathological. Echo-cardiography, USG abdomen and biopsy of pleura was also done in same patients in whom diagnosis or etiology was unclear.Results: Among 59(68.6%) had fever, 68(79%) had cough, 40(46.5%) had breathlessness, 20(23.2%) had pedal edema, 42(48.8%) had chest pain, 5(5.8%) had abdominal distention. 52(60.4%) had tubercular pleural effusion 34(39.5%) had non- tubercular pleural types of non-tubercular PE effusion (PE) included 8(23.5%) synpneumonic, 5(14.7%) had CCF, 11(32.3%) had malignancy, 2(5.88%) had RA, 2(5.88%) had dengue fever, 2(5.88%) had pancreatitis, 4(11.7%) had Hypoproteinaemia.Conclusions: This pragmatic approach to pleural effusion for patients with different clinical manifestations as pleural fluid analysis is gold standard method in evaluation pleural effusion of different etiology. Background: Among 86 patients aged between 18 to 65 of both sexes having pleural effusion due to various clinical etiologies were studied.Methods: Chest x-ray PA. was studied, 20 ml of pleural fluid was aspirated to study bio-chemically, microbiologically and pathological. Echo-cardiography, USG abdomen and biopsy of pleura was also done in same patients in whom diagnosis or etiology was unclear.Results: Among 59(68.6%) had fever, 68(79%) had cough, 40(46.5%) had breathlessness, 20(23.2%) had pedal edema, 42(48.8%) had chest pain, 5(5.8%) had abdominal distention. 52(60.4%) had tubercular pleural effusion 34(39.5%) had non- tubercular pleural types of non-tubercular PE effusion (PE) included 8(23.5%) synpneumonic, 5(14.7%) had CCF, 11(32.3%) had malignancy, 2(5.88%) had RA, 2(5.88%) had dengue fever, 2(5.88%) had pancreatitis, 4(11.7%) had Hypoproteinaemia.Conclusions: This pragmatic approach to pleural effusion for patients with different clinical manifestations as pleural fluid analysis is gold standard method in evaluation pleural effusion of different etiology.
    Type of Medium: Online Resource
    ISSN: 2349-3933 , 2349-3925
    URL: Article
    DOI: 10.18203/2349-3933.ijam20195230
    Language: Unknown
    Publisher: Medip Academy
    Publication Date: 2019
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  • 3
    Online Resource
    Online Resource
    Human Experimental Endotoxemia in Modeling the Pathophysiology, Genomics, and Therapeutics of Innate Immunity in Complex Cardiometabolic Diseases
    Ovid Technologies (Wolters Kluwer Health) ; 2015
    In:  Arteriosclerosis, Thrombosis, and Vascular Biology Vol. 35, No. 3 ( 2015-03), p. 525-534
    Details
    In: Arteriosclerosis, Thrombosis, and Vascular Biology, Ovid Technologies (Wolters Kluwer Health), Vol. 35, No. 3 ( 2015-03), p. 525-534
    Abstract: Inflammation is a fundamental feature of several complex cardiometabolic diseases. Indeed, obesity, insulin resistance, metabolic dyslipidemia, and atherosclerosis are all closely linked inflammatory states. Increasing evidence suggests that the infectious, biome-related, or endogenous activation of the innate immune system may contribute to the development of metabolic syndrome and cardiovascular disease. Here, we describe the human experimental endotoxemia model for the specific study of innate immunity in understanding further the pathogenesis of cardiometabolic disease. In a controlled, experimental setting, administration of an intravenous bolus of purified Escherichia coli endotoxin activates innate immunity in healthy human volunteers. During endotoxemia, changes emerge in glucose metabolism, lipoprotein composition, and lipoprotein functions that closely resemble those observed chronically in inflammatory cardiovascular disease risk states. In this review, we describe the transient systemic inflammation and specific metabolic consequences that develop during human endotoxemia. Such a model provides a controlled induction of systemic inflammation, eliminates confounding, undermines reverse causation, and possesses unique potential as a starting point for genomic screening and testing of novel therapeutics for treatment of the inflammatory underpinning of cardiometabolic disease.
    Type of Medium: Online Resource
    ISSN: 1079-5642 , 1524-4636
    URL: Article
    DOI: 10.1161/ATVBAHA.114.304455
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2015
    detail.hit.zdb_id: 1494427-3
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  • 4
    Online Resource
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    Study of nonalcoholic fatty liver Telangana population
    Medip Academy ; 2019
    In:  International Journal of Advances in Medicine Vol. 6, No. 6 ( 2019-11-25), p. 1903-
    Details
    In: International Journal of Advances in Medicine, Medip Academy, Vol. 6, No. 6 ( 2019-11-25), p. 1903-
    Abstract: Background: Among 83 patients of both sexes aged between 25 to 65 adults had NAFLD with metabolic syndrome were studied.Methods: U.S.G. biochemical study included total cholesterol, AST, ALP, S, Albumin total Bilirubin, FBS, HbA1c and blood pressure was recorded.Results: Among 16(19.2%) had grade-I (mild steatosis) 38(45.7%) had grade-II (Moderate steatosis), 29(34.9%) had grade-III (severe steatosis), The clinical manifestation were 49(59%) had BMI 22.8 to 23.2, 34(40.9%) had BMI 23.3 to 24.2. D.M status was 33(39.7%) were pre-diabetic, 50(60.2%) were diabetic mellitus. 19(22.8%) were norma- tensive, 64(77.1%) were hypertensive, 63(75.9%) were hyperlipidemic, 23(27.7%) had IHD. 4(4.81%) had MI. Mean value of total cholesterol was 223±9.2, Triglyceride 24.8±13.3, HDL 42.3±2.5, LDL 128±13.8, AST 52.8±3.6, ALT 67.2±6.8, ALP 107±11.8, S. Albumin 3.50±0.12, Total bilirubin 0.93±0.10, FBS 13.±12.2, HB A/c 9.10±402.Conclusions: The present study of NAFLD was performed by combination of radiological and laboratory techniques, greatly reducing the requirement for invasive biopsy and reduce the morbidity and mortality.
    Type of Medium: Online Resource
    ISSN: 2349-3933 , 2349-3925
    URL: Article
    DOI: 10.18203/2349-3933.ijam20195248
    Language: Unknown
    Publisher: Medip Academy
    Publication Date: 2019
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  • 5
    Online Resource
    Online Resource
    Abstract 467: Identification of Novel Pathogenic Mutations in Non-Canonical RNA Splice Sites in Congenital Heart Disease
    Ovid Technologies (Wolters Kluwer Health) ; 2019
    In:  Circulation Research Vol. 125, No. Suppl_1 ( 2019-08-02)
    Details
    In: Circulation Research, Ovid Technologies (Wolters Kluwer Health), Vol. 125, No. Suppl_1 ( 2019-08-02)
    Abstract: Rationale: Congenital heart disease (CHD) occurs in about 1 in 100 live births, yet known genetic causes explain less than 20% of CHD cases. While variants that cause frameshift, nonsense, start/stop site gain or loss, and canonical splice site alterations are readily categorized as being pathogenic or loss-of-function (LOF), interpreting the clinical significance of variants without obvious functional consequences remains challenging. Here, we aim to improve classification of variants of unknown significance (VUS) in non-canonical RNA splice sites that may be pathogenic for CHD. Methods: We tested candidate LOF de novo (DNV) and rare (p 〈 2E-5) inherited variants from whole exome sequencing of 4474 CHD probands and their parents in the NHLBI Pediatric Cardiac Genetics Consortium. Briefly, variants underwent computational selection to prioritize VUS in splice regions that are likely to alter splicing (“high-likelihood VUS”). These variants then underwent in vitro analysis including Minigene construction, transfection, RNA isolation, and sequencing to confirm splicing outcomes. Results: Preliminary results limited to DNV variants showed that 163 of 2678 (6.08%) were high-likelihood VUS. Subsequent analysis in vitro assay of high-likelihood VUS yielded 53 as splice-altering (p 〈 0.05) and thus LOF. Combined with previously identified 366 DNV LOF variants, the addition of these splice-altering variants represents a 15.3% increase in total LOF DNV variant calls. This includes new pathogenic mutations in known CHD genes such as KMT2D . In one case, a CHD proband with features of Kabuki Syndrome without a definitive diagnosis was found to have a splice-altering variant in KMT2D . We have extended this assay to 34518 rare, inherited variants in the same cohort, of which 868 (2.54%) are in genes previously associated with CHD. Conclusion: Consideration of non-canonical RNA splice sites in this assay increased the yield of LOF mutations from traditional sequencing methods by 15.3% in the CHD cohort. Further analysis of splice-altering variants in both known and unknown pathogenic genes will improve diagnostic classification of VUS and gene-based diagnosis of CHD.
    Type of Medium: Online Resource
    ISSN: 0009-7330 , 1524-4571
    URL: Article
    DOI: 10.1161/res.125.suppl_1.467
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
    detail.hit.zdb_id: 1467838-X
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  • 6
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    In Vivo and In Vitro Methods to Identify DNA Sequence Variants that Alter RNA Splicing
    Wiley ; 2018
    In:  Current Protocols in Human Genetics Vol. 97, No. 1 ( 2018-04)
    Details
    In: Current Protocols in Human Genetics, Wiley, Vol. 97, No. 1 ( 2018-04)
    Abstract: Identification of sequence variants that create or eliminate splice sites has proven to be a significant challenge and represents one of many roadblocks in the clinical interpretation of rare genetic variation. Current methods of identifying splice‐altering sequence variants are limited by an imperfect understanding of splice signals and the need for cumbersome functional assays. We have recently developed a computational tool that prioritizes putative splice‐altering sequence variants and a moderate‐throughput minigene assay that confirms the variants that alter splicing. This bioinformatic strategy represents a substantial increase in accuracy and efficiency with respect to historical in vitro splicing assays. In this article, we give detailed instructions on how to organize, run, and interpret various features of this procedure. We expect that splice‐altering variants revealed through this protocol can be reliably carried forward for further clinical and biological analyses. © 2018 by John Wiley & Sons, Inc.
    Type of Medium: Online Resource
    ISSN: 1934-8266 , 1934-8258
    URL: Issue
    URL: Article
    DOI: 10.1002/cphg.v97.1
    DOI: 10.1002/cphg.60
    Language: English
    Publisher: Wiley
    Publication Date: 2018
    detail.hit.zdb_id: 2179054-1
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  • 7
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    Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing
    Proceedings of the National Academy of Sciences ; 2017
    In:  Proceedings of the National Academy of Sciences Vol. 114, No. 29 ( 2017-07-18), p. 7689-7694
    Details
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 114, No. 29 ( 2017-07-18), p. 7689-7694
    Abstract: Genetic variants that cause haploinsufficiency account for many autosomal dominant (AD) disorders. Gene-based diagnosis classifies variants that alter canonical splice signals as pathogenic, but due to imperfect understanding of RNA splice signals other variants that may create or eliminate splice sites are often clinically classified as variants of unknown significance (VUS). To improve recognition of pathogenic splice-altering variants in AD disorders, we used computational tools to prioritize VUS and developed a cell-based minigene splicing assay to confirm aberrant splicing. Using this two-step procedure we evaluated all rare variants in two AD cardiomyopathy genes, lamin A/C ( LMNA ) and myosin binding protein C ( MYBPC3 ). We demonstrate that 13 LMNA and 35 MYBPC3 variants identified in cardiomyopathy patients alter RNA splicing, representing a 50% increase in the numbers of established damaging splice variants in these genes. Over half of these variants are annotated as VUS by clinical diagnostic laboratories. Familial analyses of one variant, a synonymous LMNA VUS, demonstrated segregation with cardiomyopathy affection status and altered cardiac LMNA splicing. Application of this strategy should improve diagnostic accuracy and variant classification in other haploinsufficient AD disorders.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    URL: Article
    DOI: 10.1073/pnas.1707741114
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2017
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 8
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    Abstract 772: The Highly Prevalent 25bp Intronic Deletion in MYBPC3 is Benign Under Baseline Conditions
    Ovid Technologies (Wolters Kluwer Health) ; 2019
    In:  Circulation Research Vol. 125, No. Suppl_1 ( 2019-08-02)
    Details
    In: Circulation Research, Ovid Technologies (Wolters Kluwer Health), Vol. 125, No. Suppl_1 ( 2019-08-02)
    Abstract: Background: Hypertrophic cardiomyopathy (HCM) affects at least 1 in 500 people worldwide, and results in the thickening of the ventricular walls and reduced cardiac function. Mutations in MYBPC3 , encoding cardiac myosin binding protein-C, are the most common cause of HCM. Previously, a highly prevalent 25bp deletion within intron 32 of MYBPC3 was described in the South Asian population. The MYBPC3 d25bp variant is present in approximately 100 million people, and encompasses a splicing branch point predicted to result in abnormal splicing of exon 33. Thus, there is a critical need to understand the mechanism by which MYBPC3 d25bp may cause cardiomyopathy. Methods: To determine the role of the 25bp deletion in vivo , knock-in humanized mice were created in which intron 32 was replaced with the human intron 32, with or without the MYBPC3 d25bp mutation. Mice were characterized at 3- and 6-months of age by echocardiography, histological, and protein analysis. The presence of aberrant exon splicing was also determined in mice carrying the MYBPC3 d25bp variant through RT-PCR and mini-gene assays. Finally, exon trapping experiments were performed to understand the mechanism behind exon skipping. Results: Under baseline conditions, MYBPC3 d25bp displayed no changes in cardiac function or morphology as measured by echocardiography (FS (%): NTG 35.3%, WT 32.8%, Het 33.7%), heart weight to body weight ratio, or histology. While exon 33 skipping was not detected by RT-PCR, the presence of an alternative splice site within exon 33 was identified in MYBPC3 d25bp mice. However, this did not affect the protein levels of cMyBP-C. Furthermore, mini-gene experiments demonstrated that the MYBPC3 d25bp mutation significantly reduced the percentage of correctly spliced transcripts (86.2% vs. 77.5%). Conclusions: These data demonstrate that the presence of the highly prevalent 25bp deletion is not sufficient to cause disease under baseline conditions. However, it is possible that the increased levels of aberrant splicing may increase the risk for developing HCM.
    Type of Medium: Online Resource
    ISSN: 0009-7330 , 1524-4571
    URL: Article
    DOI: 10.1161/res.125.suppl_1.772
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2019
    detail.hit.zdb_id: 1467838-X
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  • 9
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    Abstract 373: The Molecular Consequence of a Polymorphic 25bp Deletion in Intron 32 of MYBPC3, Specific to South Asians
    Ovid Technologies (Wolters Kluwer Health) ; 2018
    In:  Circulation Research Vol. 123, No. Suppl_1 ( 2018-08-03)
    Details
    In: Circulation Research, Ovid Technologies (Wolters Kluwer Health), Vol. 123, No. Suppl_1 ( 2018-08-03)
    Abstract: Background: MYBPC3 encodes cardiac myosin binding protein-C, which regulates sarcomeric stability and contractility. Previous work described a prevalent 25bp deletion in intron 32, MYBPC3 Δ 25bp , in the South Asian population. Occurring in an estimated 100 million carriers, this variant may be associated with cardiomyopathy and heart failure. MYBPC3 Δ25bp encompasses a splicing branch point that could affect splicing of exon 32 to exon 33, potentially resulting in an aberrantly spliced MYBPC3 transcript where exon 33 is skipped entirely. However, the mechanism by which MYBPC3 Δ 25bp associates with disease remains unclear. Methods: To determine the consequence of the 25bp deletion in vivo , mice were engineered that replaced the endogenous Mybpc3 intron 32 with either the normal human intron 32 or human intron 32 containing the 25bp deletion ( Mybpc3 Δ 25bp ) . We characterized Mybpc3 splicing in mice carrying human intron-32 and human iPSC derived cardiomyocytes (hiPSC-CM) from patients heterozygous and homozygous for MYBPC3 Δ 25bp by RT-PCR and using mini-gene assays (across 5 different mouse and human gene segments encompassing exon 32 through exon 34). Results: Echocardiography of mice 3 months of age revealed no changes in cardiac function by fractional shortening (WT: 32.8%, Het: 34.2%, Homo: 36.7%). However, homozygous Mybpc3 Δ 25bp mice had significantly smaller hearts compared to heterozygous and wildtype (3.4 vs 3.71 and 4.25 mg/g p=0.001). Mybpc3 Δ 25bp heterozygous and homozygous mice displayed minimal alternative splicing in exon 33 at baseline. Similarly, transcripts from hiPSC-CM from heterozygous and homozygous MYBPC3 Δ 25bp carriers also show minimal alternative splicing. Mini gene assays suggest that the 25bp deletion does reduce the proportion (77.5% v. 86.2%) of normally spliced transcripts. Conclusions: Taken together, these data suggest that under baseline conditions, MYBPC3 Δ 25bp results in minimal alternative splicing in both human iPSC-CMs and humanized mice harboring the 25bp deletion. While increase aberrant splicing may increase risk of hypertrophic cardiomyopathy in variant-carrying individuals, ongoing studies will determine whether other factors or gene mutations modulate the pathogenicity of the MYBPC3 Δ25bp variant.
    Type of Medium: Online Resource
    ISSN: 0009-7330 , 1524-4571
    URL: Article
    DOI: 10.1161/res.123.suppl_1.373
    RVK:
    XA 10000
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2018
    detail.hit.zdb_id: 1467838-X
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  • 10
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    Transverse Split Sternotomy for Repair of Tetralogy of Fallot: Mid Term Results
    Patel, Kartik ; Assistant Professor,Department of Cardiovascular and Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Centre, Ahmedabad, Gujarat 380016, India. ; Ananthanarayanan, Chandrasekaran ; [et al.]
    Red Flower Publication Private, Ltd. ; 2018
    In:  Journal of Cardiovascular Medicine and Surgery Vol. 4, No. 1 ( 2018), p. 7-11
    Details
    In: Journal of Cardiovascular Medicine and Surgery, Red Flower Publication Private, Ltd., Vol. 4, No. 1 ( 2018), p. 7-11
    Type of Medium: Online Resource
    ISSN: 2454-7123 , 2455-8303
    Uniform Title: Transverse Split Sternotomy for Repair of Tetralogy of Fallot: Mid Term Results
    URL: Issue
    URL: Journal
    URL: Article
    DOI: 10.21088/jcms.2454.7123.4118
    DOI: 10.21088/jcms.2454.7123
    DOI: 10.21088/jcms.2454.7123.4118.1
    Language: Unknown
    Publisher: Red Flower Publication Private, Ltd.
    Publication Date: 2018
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