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Patil S.J.,Center for Molecular and Metabolic Diagnostics and Research | Rai G.K.,Sanjay Gandhi Post Graduate Institute of Medical Sciences | Bhat V.,Narayana Hrudayalaya Hospitals | Ramesh V.A.,DNA Diagnostics Center | And 3 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip dislocation, club foot, ptosis and other eye findings, furrowed tongue, and scoliosis. Here, we report on a family with clinical features of DA type 5D with novel mutations in the ECEL1 gene. © 2014 Wiley Periodicals, Inc. Source


Mahadevan S.,Narayana Hrudayalaya Hospitals
Telemedicine journal and e-health : the official journal of the American Telemedicine Association | Year: 2012

We have used a telemedicine facility to conduct academic teaching/training sessions. The objective of this study was to examine the feasibility, advantages, and disadvantages of this method of e-learning sessions. The teaching/learning sessions were organized twice a week between the two teaching hospitals. The success of each academic session was analyzed in terms of satisfaction of the participating candidates, infrastructure difficulties (if any), and the overall outcome of the program. In total, 293 academic sessions were held from 2008 to 2010. Each session's presentation was 45 min long and was made using Microsoft(®) (Redmond, WA) PowerPoint. We have found that telemedicine proved to be effective in establishing communication not only between the patient and the physician, but also between the teacher and the student. Several candidates benefited from the application of this technology. Candidates expressed satisfaction and were content with the teaching methods adapted. Source


Patil S.J.,Center for Molecular and Metabolic Diagnostics and Research | Bhat V.,Narayana Hrudayalaya Hospitals | Dalal A.,DNA Diagnostics Center | Santosh J.S.,Narayana Hrudayalaya Dental Clinics
American Journal of Medical Genetics, Part A | Year: 2012

Atretic cephaloceles associated with multiple congenital anomalies are known to follow either autosomal dominant or autosomal recessive patterns of inheritance. Zechi-Ceide syndrome (OMIM 612916) is an autosomal recessive disorder, characterized by an occipital atretic cephalocele, characteristic facial features, and large feet. Here we describe a patient with findings fitting Zechi-Ceide syndrome, in whom some of the manifestations were also present in his mother, indicating either autosomal dominant inheritance with variable expression, X-linked inheritance, or a manifesting carrier of an autosomal recessive inheritance. © 2012 Wiley Periodicals, Inc. Source


Patil S.J.,Center for Molecular and Metabolic Diagnostics and Research | Madhusudhan B.G.,Narayana Hrudayalaya Hospitals | Shah S.,Narayana Hrudayalaya Hospitals | Suresh P.V.,Narayana Hrudayalaya Hospitals
American Journal of Medical Genetics, Part A | Year: 2012

Williams-Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion. © 2012 Wiley Periodicals, Inc. Source


Muralidhar K.,Narayana Hrudayalaya Hospitals and 258 A Bommasandra Industrial Area | Bhagyashri K.,Narayana Hrudayalaya Hospitals and 258 A Bommasandra Industrial Area | Guptha R.,Narayana Hrudayalaya Hospitals and 258 A Bommasandra Industrial Area | Hegde N.,Narayana Hrudayalaya Hospitals | And 2 more authors.
Asian Cardiovascular and Thoracic Annals | Year: 2013

Background: Acute renal injury requiring renal replacement therapy after cardiac surgery develops in 1%-5% of patients, and is strongly associated with perioperative morbidity and mortality. The prognostic risk factors for development acute renal injury requiring renal replacement therapy are identified in this study. Methods: 2585 adult patients who underwent cardiac surgery during a 1-year period (November 2010 to October 2011) were studied. The patients who developed acute renal injury requiring renal replacement therapy were compared with matched controls. Logistic regression analysis was applied to determine the predictors of acute renal injury requiring renal replacement therapy. Results: 44 patients developed acute renal injury requiring renal replacement therapy following cardiac surgery. On multivariate logistic analysis, the following factors independently predicted acute renal injury requiring renal replacement therapy (p0.05): preoperative critical state, pre-existing renal dysfunction, preoperative diastolic dysfunction, and combined cardiac surgery. Conclusion: The risk of acute renal injury requiring renal replacement therapy can be fairly accurately predicted and quantified on the basis of available preoperative and intraoperative data. These predictors may be used by physicians to estimate the risk and target high-risk groups for interventions that prevent, reduce, or ameliorate the occurrence of renal failure needing acute renal replacement therapy. © The Author(s) 2012 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav. Source

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