Dharmagat Bhattarai
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View article: Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India
Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India Open
View article: Healthcare resources for inborn errors of immunity in the Asia-Pacific region
Healthcare resources for inborn errors of immunity in the Asia-Pacific region Open
This questionnaire-based study provides insights into the current healthcare infrastructure used to diagnose and manage inborn errors of immunity across countries and regions involved in the Asia-Pacific Society for Immunodeficiencies.
View article: Griscelli Syndrome Type 2 Secondary to a Novel <scp>RAB27A</scp> Variant Presenting With Dermatitis
Griscelli Syndrome Type 2 Secondary to a Novel <span>RAB27A</span> Variant Presenting With Dermatitis Open
View article: Advocacy in Action: International Patient Group Improves Hereditary Angioedema Diagnosis and Care Across the Asia–Pacific
Advocacy in Action: International Patient Group Improves Hereditary Angioedema Diagnosis and Care Across the Asia–Pacific Open
This study demonstrates that patient advocacy groups significantly enhance medication availability and improve diagnosis of hereditary angioedema (HAE), particularly in emerging economies within the Asia-Pacific region. This study supports…
View article: Tuberculous meningitis leading to stroke: a case report
Tuberculous meningitis leading to stroke: a case report Open
Introduction: Tuberculosis is a major public health issue in developing countries. Vasculitis, resulting from tubercular meningitis, can lead to stroke. Case presentation: A 33-year-old male presented to the Emergency Department with relap…
View article: Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency
Clinical and Immunological Features, Genetic Variants, and Outcomes of Patients with CD40 Deficiency Open
View article: POS0759 MONOGENIC DISORDERS IN THE MAIDEN COHORT OF PEDIATRIC RHEUMATOLOGICAL DISEASES OF NEPAL- A SPECK OF IMPRINT ON EVEREST
POS0759 MONOGENIC DISORDERS IN THE MAIDEN COHORT OF PEDIATRIC RHEUMATOLOGICAL DISEASES OF NEPAL- A SPECK OF IMPRINT ON EVEREST Open
View article: Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications Open
View article: Case Report: Anti-MDA-5 dermatomyositis in a resource-limited setting
Case Report: Anti-MDA-5 dermatomyositis in a resource-limited setting Open
Anti-Melanoma Differentiation-Associated gene 5 (Anti-MDA-5) dermatomyositis is a rare subtype of inflammatory myopathy characterized by unique skin lesions, rapidly progressive interstitial lung disease, and skeletal muscle inflammation. …
View article: Role of Mesenchymal Stem Cells on Tonsillar Hypertrophy: An Unexplored Enigma
Role of Mesenchymal Stem Cells on Tonsillar Hypertrophy: An Unexplored Enigma Open
Tonsillar or adenoid hypertrophy is a common childhood finding which can cause significant health problems like respiratory infections and sleep apnea. Though normal growth of children is also attributed to such enlargement, infection, env…
View article: Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India
Association of single nucleotide polymorphism rs113420705 of CASP3 in children with Kawasaki disease from North India Open
Background: Kawasaki disease is a pediatric, systemic, vasculitic disorder. Its exact etiology is still unknown. Genetic polymorphisms are being investigated as susceptibility factor for this disorder. These are likely to vary among differ…
View article: DRESS syndrome due to first-line antitubercular therapy – A diagnostic imbroglio!
DRESS syndrome due to first-line antitubercular therapy – A diagnostic imbroglio! Open
A BSTRACT Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome after the use of first-line antitubercular drugs (ATDs) is rare and literature regarding DRESS syndrome due to ATDs is scarce in children. We report a young b…
View article: Mycophenolate mofetil in the treatment of childhood systemic polyarteritis nodosa
Mycophenolate mofetil in the treatment of childhood systemic polyarteritis nodosa Open
Polyarteritis nodosa (PAN) is a medium vessel vasculitis with necrotising vascular changes along with multisystemic involvement. Due to variable initial presentations, diagnosis of systemic PAN in children requires a comprehensive work up.…
View article: Features of nephrotic syndrome in infants with severe combined immunodeficiency
Features of nephrotic syndrome in infants with severe combined immunodeficiency Open
View article: Extensive idiopathic calcinosis in a child – A diagnostic and therapeutic imbroglio
Extensive idiopathic calcinosis in a child – A diagnostic and therapeutic imbroglio Open
Idiopathic calcinosis is a disorder characterized by diffuse calcium deposits at various sites of the body. Etiopathogenic associations are described with inherited disorders, connective tissue disorders, infections, tumors, trauma, and en…
View article: Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children
Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children Open
View article: Pediatric hypereosinophilia and toxoplasma
Pediatric hypereosinophilia and toxoplasma Open
Evaluation of pediatric hypereosinophilia (HE) is challenging, especially in the tropical developing countries, as appropriate diagnostic facilities may be lacking, parasitic/helminthic infections are common, and existing data on the etiol…
View article: Utility and perceptions about web-based academics among physicians during COVID-19 pandemic
Utility and perceptions about web-based academics among physicians during COVID-19 pandemic Open
Introduction: Coronaviral disease-19 is the global challenge for medical fraternity and public health sector. Need of social distancing has compelled physicians and surgeons to continue medical education through virtual mode like webinar. …
View article: Prevalence and risk factors of asthma among school going children in urban area of North India
Prevalence and risk factors of asthma among school going children in urban area of North India Open
Introduction: Bronchial asthma is a chronic respiratory illness of global importance. Recent reports depict the increasing prevalence of this disorder in urban areas. Methods: An observational study was designed with a sample size of 1163 …
View article: A neonate with absent lymphocytes: Is this severe combined immunodeficiency?
A neonate with absent lymphocytes: Is this severe combined immunodeficiency? Open
Lymphocyte counts are higher in number in neonates. Preterm neonates have relatively low lymphocyte counts but absence of lymphocyte counts is extremely unusual and it creates a diagnostic dilemma. We report a preterm neonate with absent l…
View article: Cardiovascular Involvement in Kawasaki Disease Is Much More Than Mere Coronary Arteritis
Cardiovascular Involvement in Kawasaki Disease Is Much More Than Mere Coronary Arteritis Open
Kawasaki disease (KD) is now a common cause of acquired heart disease in children. Coronary artery involvement is the most serious complication in children with KD. Several non-coronary complications have now been identified in this condit…
View article: Epstein‐Barr virus‐associated lymphocytic cholangitis in a child with X‐linked lymphoproliferative syndrome
Epstein‐Barr virus‐associated lymphocytic cholangitis in a child with X‐linked lymphoproliferative syndrome Open
Dear Editor, X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency disease caused by a defect in signalling lymphocyte-activation molecule (SLAM)-associated protein encoded by SH2 domain-containing 1A (SH2D1A) gene. This…
View article: Myriad faces of X-linked agammaglobulinemia in a young boy
Myriad faces of X-linked agammaglobulinemia in a young boy Open
Myriad faces of X-linked agammaglobulinemia in a young boyAuthors: Murugan Sudhakar1, Manpreet Arora1, Lesa Dawman1, Dharmagat Bhattarai1, Pratap Kumar Patra1, Ankur Kumar Jindal1, Ritambhra Nada2, Amit Rawat1, Karalanglin Tiewsoh1
View article: AB0003 SINGLE-NUCLEOTIDE POLYMORPHISMS (RS28493229 AND RS2290692) IN ITPKC GENE IN CHILDREN WITH KAWASAKI DISEASE
AB0003 SINGLE-NUCLEOTIDE POLYMORPHISMS (RS28493229 AND RS2290692) IN ITPKC GENE IN CHILDREN WITH KAWASAKI DISEASE Open
View article: Severe eosinophilia and toxoplasmosis -- an uncommon association.
Severe eosinophilia and toxoplasmosis -- an uncommon association. Open
View article: Unilateral limb atrophy: Is it a forme fruste localized scleroderma?
Unilateral limb atrophy: Is it a forme fruste localized scleroderma? Open
View article: Candidal perforation of the hard palate in an HIV-infected child
Candidal perforation of the hard palate in an HIV-infected child Open
An 18-month-old girl presented with a history of choking episodes and nasal regurgitation of feeds for a month. In the past, she had recurrent episodes of diarrhoea with oral thrush, which were treated at a local healthcare facility with t…
View article: Acute haemorrhagic oedema of infancy: Alarming but clinically benign vasculitis
Acute haemorrhagic oedema of infancy: Alarming but clinically benign vasculitis Open
Acute haemorrhagic oedema of infancy (AHEI) is a self-limiting small vessel vasculitis of infants and young children. Although the cutaneous manifestation of the disease looks seemingly worrisome, this is a benign clinical condition. Under…
View article: Recent advances in chronic granulomatous disease
Recent advances in chronic granulomatous disease Open
Chronic granulomatous disease (CGD) is an inherited defect of phagocyte function due to defective NADPH oxidase. Patients with CGD are not able to effectively clear the infections because of the defect in the phagocyte production of oxygen…
View article: Pathergy phenomenon: an important clinical pointer to Behҫet disease
Pathergy phenomenon: an important clinical pointer to Behҫet disease Open
A 5-year-old girl presented with a history of intermittent fever, recurrent aphthous oral ulcers and pustulo-nodular skin lesions spreading with contractures and disfiguring scars at sites of trauma. She had a history of the development of…