Publications (19)56.21 Total impact
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Article: Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.
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ABSTRACT: The Greig cephalopolysyndactyly syndrome (GCPS) is a rare, autosomal dominant, pleiotropic, multiple congenital anomaly syndrome. The typical findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. We present two families, with GCPS with a non-syndromic phenotype, without the characteristic craniofacial anomalies and with the presence of complex digital anomalies including various types of polydactyly and syndactyly of the fingers and toes. The cases were proven to be GCPS by mutational analysis of GL13 gene. Our patients support the fact that the phenotypic spectrum of GL13 mutations is broader than that encompassed by the usual clinical diagnostic criteria. Individuals with features of familial polysyndactyly should be screened for mutations in GL13 even if they do not fulfill clinical criteria.European Journal of Pediatrics 01/2013; · 1.88 Impact Factor -
Article: The State of the Blog: The First Year of eAJKD.
American Journal of Kidney Diseases 01/2013; 61(1):1-2. · 5.43 Impact Factor -
Article: Complement evaluation in atypical hemolytic uremic syndrome: Current concepts.
Saudi journal of kidney diseases and transplantation: an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 09/2012; 23(5):1074-6. -
Article: Overall neutralization of complement factor h by autoantibodies in the acute phase of the autoimmune form of atypical hemolytic uremic syndrome.
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ABSTRACT: Complement is a major innate immune surveillance system. One of its most important regulators is the plasma protein factor H (FH). FH inactivation by mutations or by autoantibodies is associated with a thrombotic microangiopathy disease, atypical hemolytic uremic syndrome. In this study, we report the characterization of blood samples from 19 anti-FH Ab-positive atypical hemolytic uremic syndrome patients collected at the acute phase of the disease. Analyses of the functional consequences and epitope mapping, using both fluid phase and solid phase approaches, were performed. The anti-FH Abs perturbed FH-mediated cell protection (100%), inhibited FH interaction with C3 (46%), and caused C3 consumption (47%). The Abs were directed against multiple FH epitopes located at the N and C termini. In all tested patients, high titers of FH-containing circulating immune complexes were detected. The circulating immune complex titers correlated with the disease stage better than did the Ab titers. Our results show that anti-FH autoantibodies induce neutralization of FH at acute phase of the disease, leading to an overall impairment of several functions of FH, extending the role of autoantibodies beyond the impairment of the direct cell surface protection.The Journal of Immunology 08/2012; 189(7):3528-37. · 5.79 Impact Factor -
Article: Vitamin A responsive night blindness in Dent’s disease
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ABSTRACT: Dent’s disease is an X-linked renal tubular disorder characterized by low molecular weight proteinuria, hypercalciuria and nephrocalcinosis or nephrolithiasis. The disease is caused by mutations in a renal chloride channel gene, CLCN5. We report on three boys, of Indian origin, with Dent’s disease that presented at an early age (1–4years), with polyuria, polydipsia, salt craving, recurrent vitaminA-responsive night blindness, hypophosphataemic rickets, hypercalciuria and low molecular weight proteinuria. All these patients were found to have novel mutations in the CLCN5 gene.Pediatric Nephrology 04/2012; 24(9):1765-1770. · 2.52 Impact Factor -
Article: Embracing the Internet as a means of enhancing medical education in nephrology.
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ABSTRACT: This review discusses how the internet currently is being used to provide medical education in the nephrology community and addresses some of the issues and dilemmas unique to using this media. It focuses on how blogs, wikis, podcasts/YouTube, social bookmarking/media, and mobile devices are used to deliver e-learning in nephrology.American Journal of Kidney Diseases 08/2011; 58(4):512-8. · 5.43 Impact Factor -
Article: Infantile trauma due to a rat bite.
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ABSTRACT: We present two cases of extreme neglect with injuries. These are perfect examples of gender bias. Our first case is a 20-day-old female neonate was brought to the pediatric emergency department with multiple rat bites to the face. A 9-month-old female infant was brought to the emergency care division with multiple rat bites on the eyes and upper extremities. These cases point towards the existing gender bias and extreme social neglect of females in the Indian society.Journal of Emergencies Trauma and Shock 07/2011; 4(3):409-10. -
Article: Predictors of acute kidney injury post-cardiopulmonary bypass in children.
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ABSTRACT: To investigate the incidence, implicating factors and outcome of acute kidney injury (AKI) after cardiopulmonary bypass (CPB) in patients admitted to a pediatric cardiothoracic intensive care unit (ICU). Design: A retrospective review study. Setting: A 10-bed cardiothoracic ICU. Patients: One hundred and twenty-four children (<18 years of age) admitted to the cardiothoracic ICU following CPB between January 2007 and December 2009. Methods: Age, sex, diagnosis, baseline and post-surgery hemoglobin, total leukocyte count, platelet count and biochemistry were recorded. Baseline and postoperative urea (mg/dl), creatinine (mg/dl), urine output (ml/kg/h) and inotrope dose were also recorded daily. The duration of CPB was noted. Postoperative cardiac, renal, hepatic, neurologic and respiratory dysfunctions were recorded. Seven (5%) children developed AKI stage I, five children (4%) developed AKI stage II and two children developed AKI stage III (2%). All patients with AKI had a longer stay in hospital and increased mortality. Two children required dialysis for AKI and none developed chronic renal impairment. All patients with AKI stage III died during the ICU stay. Using stepwise regression, younger age (<1 year), weight <10 kg, pump failure, sepsis and duration of CPB >90 min were significant risk factors identified for developing AKI. AKI is common and occurred in 11% of our patients following CPB; however, AKI requiring renal replacement therapy is uncommon.Clinical and Experimental Nephrology 04/2011; 15(4):529-34. · 1.37 Impact Factor -
Article: "Virtual Pediatric Renal Grand Rounds": an innovative e-learning.
Pediatric Nephrology 01/2011; 26(1):159-60. · 2.52 Impact Factor -
Article: Invited manuscript poster on renal-related education American Society of Nephrology, Nov. 16-21, 2010. E-pediatric nephrology in India.
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ABSTRACT: New tools such as blogs, social media networks, and audio and video podcasts in Web 2.0 have allowed better exchange of information among physicians across distances. The medical world has started embracing this new technology as it emerges. Wikis, blogs, and podcasts carry the potential of complementing, improving, and adding new collaborative dimensions to the health education currently in existence. There is a need for physicians in all specialities to adopt the new Web 2.0 technologies. This review features the innovative use of internet in disseminating renal education in Pediatric Nephrology in India.Renal Failure 01/2011; 33(7):751-2. · 0.82 Impact Factor -
Article: Earthquakes and pediatric nephrology: are we prepared?
Pediatric Nephrology 12/2010; 25(12):2543-4. · 2.52 Impact Factor -
Article: Online blogging during conferences: an innovative way of e-learning.
Kidney International 12/2010; 78(12):1199-201. · 6.61 Impact Factor -
Article: A child with mental retardation and asymmetrical hypertrophy of limbs.
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ABSTRACT: A 5-year-old male child presented with progressively increasing asymmetrical overgrowth of limbs, hyperpigmentation on the right half of the body, and mental retardation since 9 months of age.European Journal of Pediatrics 12/2010; 170(6):813-4. · 1.88 Impact Factor -
Article: E-learning and pediatric nephrology: time to embrace the new technology.
Pediatric Nephrology 11/2010; 25(11):2371-2. · 2.52 Impact Factor -
Article: Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndrome.
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ABSTRACT: Atypical hemolytic uremic syndrome (aHUS) is a rare form of thrombotic microangiopathy that associates, in 70% of cases, with genetic or acquired disorders leading to dysregulation of the alternative pathway of complement. Autoantibody directed against Factor H causes at least 6% to 10% of aHUS cases, but only a few clinical reports are available. Here, we describe the clinical, biologic, genetic features, treatment, and outcome of 45 patients who presented with aHUS associated with anti-FH autoantibody. We found that this form of aHUS primarily affects children between 9 and 13 years old but it also affects adults. It presents with a high frequency of gastrointestinal symptoms and with extrarenal complications and has a relapsing course. Activation of the alternative pathway of complement at the onset of disease portends a poor prognosis. Early specific treatment may lead to favorable outcomes. These data should improve the recognition and diagnosis of this form of aHUS and help identify patients at high risk of a poor outcome.Journal of the American Society of Nephrology 11/2010; 21(12):2180-7. · 9.66 Impact Factor -
Article: Anti-factor H autoantibody-associated hemolytic uremic syndrome: review of literature of the autoimmune form of HUS.
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ABSTRACT: Non-Shiga toxin-associated hemolytic uremic syndrome (atypical HUS) is a rare form of thrombotic microangiopathy that associates hemolytic anemia, thrombocytopenia, and acute renal failure. The disease has been demonstrated to be linked with a complement alternative pathway dysregulation due to genetic defects but also to development of autoantibodies to factor H (FH), the main plasmatic alternative pathway regulatory protein. In this review, we summarize the more recent data of this autoimmune form of HUS at the level of epidemiology and its clinical and biological features. We propose the performance of anti-FH autoantibodies screening at the very onset of the disease in all cases of HUS to first make the proper diagnosis as early as possible, and second to support an appropriate therapy including early plasma exchanges and immunosuppressive treatments.Seminars in Thrombosis and Hemostasis 09/2010; 36(6):633-40. · 4.52 Impact Factor -
Article: Panniculitis associated with steroid use.
Saudi journal of kidney diseases and transplantation: an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 05/2010; 21(3):539-41. -
Article: H1N1 infection: a pediatric nephrologist's perspective.
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ABSTRACT: KeywordsH1N1-Swine Flu-OseltamivirClinical and Experimental Nephrology 04/2010; 14(3):300-1. · 1.37 Impact Factor -
Article: Antenatal diagnosis of Lowe syndrome.
Clinical and Experimental Nephrology 02/2010; 14(3):296-7. · 1.37 Impact Factor
Top Journals
Institutions
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2013
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East Carolina University
Greenville, NC, USA
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2012
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Medanta The Medicity
Gurgaon, Haryana, India
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2010–2012
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All India Institute of Medical Sciences
New Delhi, NCT, India
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2011
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Duke University
- Department of Medicine
Durham, NC, USA
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2010–2011
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Dr. Ram Manohar Lohia Hospital
New Delhi, NCT, India
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