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Khan U.H.,SheriKashmir Institute of Medical Sciencess | Koul P.A.,SheriKashmir Institute of Medical Sciencess | Koul P.A.,SheriKashmir Institute of Medical science
BMJ Case Reports | Year: 2013

A 20-year-old female patient presented with fever and swelling in the neck accompanied by anorexia and weight loss. The clinical examination revealed a febrile patient with diffuse cervical lymphadenopathy. Routine investigations were negative. A 5TU (tuberculin units) tuberculin skin test (Mantoux test) was positive with an induration of 52×40 mm after 72 h with central blistering, exudation and ulceration. Aspiration cytology from the cervical lymph node revealed the presence of caseating granulomas. The patient responded completely to antitubrecular therapy. Enhanced-tuberculin reactions may occur on occasion in tuberculosis. Copyright © 2013 BMJ Publishing Group. All rights reserved. Source

Lorenzo F.R.,University of Utah | Phillips J.D.,University of Utah | Nussenzveig R.,Arup | Lingam B.,University of Utah | And 4 more authors.
Blood Cells, Molecules, and Diseases | Year: 2011

Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 (CYB5R3) deficiency is an autosomal recessive disorder that occurs sporadically worldwide, although endemic clusters of this disorder have been identified in certain ethnic groups. It is present as two distinct phenotypes, type I and type II. Type I methemoglobinemia is characterized by CYB5R3 enzyme deficiency restricted to erythrocytes and is associated with benign cyanosis. The less frequent type II methemoglobinemia is associated with generalized CYB5R3 deficiency affecting all cells and is lethal in early infancy. Here we describe the molecular basis of type I methemoglobinemia due to CYB5R3 deficiency in four patients from three distinct ethnic backgrounds, Asian Indian, Mexican and Greek.The CYB5R3 gene of three probands with type I methemoglobinemia and their relatives were sequenced revealing several putative causative mutations; in one subject multiple mutations were present. Two novel mutations, S54R and F157C, were identified and the previously described A179T, V253M mutations were also identified. All these point mutations mapped to the NADH binding domain and or the FAD binding domain. Each has the potential to sterically hinder cofactor binding causing instability of the CYB5R3 protein. Wild-type CYB5R3, as well as two of these novel mutations, S54R and F157C, was amplified, cloned, and purified recombinant peptide obtained. Kinetic and thermodynamic studies of these proteins show that the above mutations lead to decreased thermal stability. © 2011 Elsevier Inc. Source

Koul P.A.,SheriKashmir Institute of Medical science
BMJ case reports | Year: 2013

A young man presented with erythematous rash that appeared 3 days following upper respiratory symptoms and fever. Diffuse exanthematous rash was seen over whole body, most pronounced over the trunk. A subconjunctival haemorrhage also appeared in the left eye following incessant cough. Reverse transcription-PCR of the nasopharyngeal secretions revealed influenza A (2009 pandemic H1N1). The patient responded to oseltamivir therapy. Influenza should be considered in patients presenting with exanthematous skin rash. Source

Koul P.,SheriKashmir Institute of Medical science | Khan U.,Internal and Pulmonary Medicine | Bhat K.,SKIMS | Saha S.,India Influenza Center | And 3 more authors.
PLoS Currents | Year: 2013

Some parts of world, including India observed a recrudescent wave of influenza A/H1N1pdm09 in 2012. We undertook a study to examine the circulating influenza strains, their clinical association and antigenic characteristics to understand the recrudescent wave of A/H1N1pdm09 from November 26, 2012 to Feb 28, 2013 in Kashmir, India. Of the 751 patients (545 outpatient and 206 hospitalized) presenting with acute respiratory infection at a tertiary care hospital in Srinagar; 184 (24.5%) tested positive for influenza. Further type and subtype analysis revealed that 106 (58%) were influenza A (H1N1pdm09 =105, H3N2=1) and 78 (42%) were influenza B. The influenza positive cases had a higher frequency of chills, nasal discharge, sore throat, body aches and headache, compared to influenza negative cases. Of the 206 patients hospitalized for pneumonia/acute respiratory distress syndrome or an exacerbation of an underlying lung disease, 34 (16.5%) tested positive for influenza (22 for H1N1pdm09, 11 for influenza B). All influenza-positive patients received oseltamivir and while most patients responded well to antiviral therapy and supportive care, 6 patients (4 with H1N1pdm09 and 2 with influenza B) patients died of progressive respiratory failure and multi-organ dysfunction. Following a period of minimal circulation, H1N1pdm09 re-emerged in Kashmir in 2012-2013, causing serious illness and fatalities. As such the healthcare administrators and policy planners need to be wary and monitor the situation closely. © 2013, Public Library of Science. All Rights Reserved. Source

Sofi F.A.,SheriKashmir Institute of Medical science
BMJ case reports | Year: 2011

A 20-year-old young female presented with extensive skin rashes with bullae and extensive epidermal necrolysis about 20 days after the addition of lamotrigine (LTG) to her anticonvulsant medication. The patient was managed by stopping LTG and supportive treatment. The seizures were controlled with increase in the doses of carbamazepine. The report emphasises exercising of caution once LTG is added to a regimen containing valproic acid. Source

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