Ankur Kumar Jindal
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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: Unmet needs in hereditary angioedema: an international survey of physicians
Unmet needs in hereditary angioedema: an international survey of physicians Open
View article: Utility of 18F FDG PET/CT in Hemophagocytic Lymphohistiocytosis
Utility of 18F FDG PET/CT in Hemophagocytic Lymphohistiocytosis Open
Purpose: Hemophagocytic lymphohistiocytosis (HLH) is a fatal systemic inflammatory syndrome caused by a wide array of causes, which may be detected on 18 F fluorodeoxyglucose positron emission tomography/computed tomography ( 18 F FDG PET/…
View article: Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review
Clinicopathological and Immunogenetic Characterization in 8 Patients with Familial Hemophagocytic Lymphohistiocytosis Type 2: A Study from North India with Literature Review Open
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2) is the commonest cause of familial hemophagocytic lymphohistiocytosis (FHLH). In this retrospective study, we analyzed 8 patients with a genetic diagnosis of FHL2 and then examined …
View article: Erroneous Pulse Oximetry Readings and Local Cutaneous Variables: What We Should Know
Erroneous Pulse Oximetry Readings and Local Cutaneous Variables: What We Should Know 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: Quality of life in patients with hereditary angioedema correlates with angioedema control: Our experience at Chandigarh, India
Quality of life in patients with hereditary angioedema correlates with angioedema control: Our experience at Chandigarh, India Open
Background: Hereditary angioedema (HAE) is characterized by unpredictable acute attacks that impair the patient’s quality of life (QoL) not only due to the impact on functional abilities caused by edema but also due to pain and other sympt…
View article: A simple tweak to optimize gastroscope-assisted endotracheal intubation in endoscopy suites!
A simple tweak to optimize gastroscope-assisted endotracheal intubation in endoscopy suites! Open
View article: Innovative Time in Remission Assessment of Inflammation in Juvenile Idiopathic Arthritis-Associated Uveitis over 10-year follow-up
Innovative Time in Remission Assessment of Inflammation in Juvenile Idiopathic Arthritis-Associated Uveitis over 10-year follow-up Open
Purpose Juvenile idiopathic arthritis(JIA) is a leading cause of childhood uveitis resulting in severe ocular morbidity. Corticosteroids and Disease-modifying antirheumatic drugs(DMARDs) are standard of care,with biological drugs reserved …
View article: P41 Decoding short stature in a child with lupus nephritis: an unusual association with de la Chapelle syndrome
P41 Decoding short stature in a child with lupus nephritis: an unusual association with de la Chapelle syndrome Open
Introduction Recent studies have implicated the dysregulation of epigenetic factors in maintaining favourable lyonization of X-chromosome as a plausible putative mechanism in causing high incidence of systemic lupus erythematosus (SLE) in …
View article: Hodgkin lymphoma in a child with biallelic FASL variant (ALPS‐FASL): Case report and review of literature
Hodgkin lymphoma in a child with biallelic FASL variant (ALPS‐FASL): Case report and review of literature Open
View article: P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap!
P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap! Open
Introduction Azathioprine is a common disease-modifying anti-rheumatic drug used in non-infectious uveitis. Although unusual, it has been associated with myelosuppression in genetically predisposed individuals who exhibit mutations in thio…
View article: Incidence of Kawasaki disease among children in Chandigarh, India during 2015–2019: a trend analysis
Incidence of Kawasaki disease among children in Chandigarh, India during 2015–2019: a trend analysis Open
View article: Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study
Prevalence of immunological aberrations and 22q11.2 deletion in children with conotruncal anomalies: A cross-sectional study Open
Introduction: 22q11.2 deletion is associated with conotruncal anomalies and immunological aberrations. Given the common embryonic origin of conotruncus and thymus, conotruncal anomalies may be associated with immunological aberrations irre…
View article: The value of CT coronary angiography for a comprehensive assessment of left circumflex artery in Kawasaki disease: 9 years of experience from a tertiary center
The value of CT coronary angiography for a comprehensive assessment of left circumflex artery in Kawasaki disease: 9 years of experience from a tertiary center Open
None.
View article: Deciphering the landscape of hereditary angioedema in India: Perspective for Indian dermatologists
Deciphering the landscape of hereditary angioedema in India: Perspective for Indian dermatologists Open
View article: The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation
The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation Open
International audience
View article: Hereditary and Acquired Angioedema for Rheumatologists in India: Are We Missing the Diagnosis?
Hereditary and Acquired Angioedema for Rheumatologists in India: Are We Missing the Diagnosis? Open
Bradykinin-mediated angioedema can broadly be categorised into hereditary angioedema (HAE) and acquired angioedema (AAE). Both HAE and AAE are grossly under-recognised in the country largely because of lack of awareness. Type 1 and 2 HAE i…
View article: A Decade-Long Review: Insights into Diagnosis and Disease Trajectory of Uveitis from a Single-Center Study
A Decade-Long Review: Insights into Diagnosis and Disease Trajectory of Uveitis from a Single-Center Study Open
Purpose To analyze the evolution of uveitis diagnosis over a 10-year period, emphasizing the change in etiological diagnosis, and the factors associated with recurrences. Design: Retrospective chart review Methods A total of 15000 patients…
View article: Psychological Assessment and Behavioural Interventions in a Young Girl with Antineutrophil Cytoplasmic Antibody-associated Vasculitis
Psychological Assessment and Behavioural Interventions in a Young Girl with Antineutrophil Cytoplasmic Antibody-associated Vasculitis Open
View article: Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases
Update on ocular manifestations of the main monogenic and polygenic autoinflammatory diseases Open
Autoinflammatory diseases include disorders with a genetic cause and also complex syndromes associated to polygenic or multifactorial factors. Eye involvement is present in many of them, with different extent and severity. The present revi…
View article: Biochemical, Cytogenetic and Molecular Evaluation of Ambiguous Genitalia in Pediatric Patients
Biochemical, Cytogenetic and Molecular Evaluation of Ambiguous Genitalia in Pediatric Patients Open
Objective- Ambiguity in genitalia is a rare phenotypic presentation of genitourinary system which needs immediate attention to evaluate the life-threatening disorder CAH (Congenital Adrenal Hyperplasia) and sex assignment. Hence determinin…
View article: Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India
Transmission patterns of C1-INH deficiency hereditary angioedema favors a wild-type male offspring: Our experience at Chandigarh, India Open
Results of the study suggest that the transmission pattern of SERPING1 gene variant favours the transmission of wild-type alleles in males, especially when the father is the carrier; hence, overall, fewer males and more female offspring in…
View article: Psychological Assessment and behavioral Interventions in a young girl with antineutrophil cytoplasmic antibody associated vasculitis
Psychological Assessment and behavioral Interventions in a young girl with antineutrophil cytoplasmic antibody associated vasculitis Open
Antineutrophil cytoplasmic antibody (ANCA) vasculitis is a rare multisystem small vessel vasculitis in children. Apart from usual clinical management, psychosocial issues are also need to be addressed. We report a young girl with ANCA vasc…
View article: Genetic Landscape of Early Onset Systemic Lupus Erythematous in India
Genetic Landscape of Early Onset Systemic Lupus Erythematous in India Open
View article: Treatment adherence and its determinants among the rheumatic fever/rheumatic heart disease patients during COVID 19 pandemic – A cross sectional study from Chandigarh, India
Treatment adherence and its determinants among the rheumatic fever/rheumatic heart disease patients during COVID 19 pandemic – A cross sectional study from Chandigarh, India Open
Background: Rheumatic heart disease/Rheumatic fever is a non – communicable disease being a major neglected health problem. Recurrent attacks of rheumatic fever can have catastrophic outcomes, therefore regular administration of antibiotic…
View article: Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children
Application of array comparative genomic hybridization in clinical diagnostics of intellectual disability/developmental delay in children Open
Background: This study was designed to analyze and evaluate the potential pathogenic genomic imbalance in children with unexplained intellectual disability (ID) and/or developmental delay (DD) and its association with phenotypes, and to in…
View article: Uncovering the true burden of hereditary angioedema due to C1-inhibitor deficiency: A focus on the Asia-Pacific region
Uncovering the true burden of hereditary angioedema due to C1-inhibitor deficiency: A focus on the Asia-Pacific region Open
Hereditary angioedema (HAE) due to C1-inhibitor deficiency or dysfunction is a rare genetic disorder that causes recurrent episodes of swelling in various parts of the body. Treatment goals of HAE aim to "normalize" life for all patients; …
View article: Screening for type II hereditary angioedema—the “poor man’s c1-inhibitor function”
Screening for type II hereditary angioedema—the “poor man’s c1-inhibitor function” Open
View article: Pediatric Lupus Retinopathy: A Rare Manifestation of a Grave Systemic Disorder
Pediatric Lupus Retinopathy: A Rare Manifestation of a Grave Systemic Disorder Open
We describe a rare case of pediatric systemic lupus erythematosus (pSLE) and its successful management. A nine-year-old female presented with bilateral diminution of vision, fever, and rash in the malar region, chest, abdomen, back, and ar…