Pratap Patra - Academia.edu (original) (raw)

Papers by Pratap Patra

Research paper thumbnail of CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case–control study and meta-analysis

Frontiers in Pediatrics

IntroductionCD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibi... more IntroductionCD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the CD40 gene in patients with KD from the Indian subcontinent are not available. We studied the CD40 gene polymorphisms and its expression in children with KD from North India.MethodsSNPs of the CD40 gene (rs4810485, rs1535045) were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the CD40 gene in KD. GRADEpro GDT software (v.3.2) was used to assess the “certainty of evidence.”ResultsForty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the CD40 gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared...

Research paper thumbnail of Unusual complication of Mycoplasma pneumonia in a five-year-old child

Australasian Medical Journal, 2013

Research paper thumbnail of Retinal vasculopathy in children with systemic lupus erythematosus: report of two cases

Lupus, Jul 28, 2020

Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with ... more Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with a variable clinical course. SLE is more severe and is associated with higher mortality in children compared to adults. Eye involvement may be seen in up to a third of patients. Retinal vasculopathy is rare in children with SLE. We report two such cases. Both patients in this series had cotton-wool spots on fundus examination, and fundus fluorescein angiography revealed findings of occlusive micro-angiopathy. These findings are characteristic of lupus retinal vasculopathy. Fundus examination is crucial in diagnosing retinal vasculopathy. All children with SLE must be evaluated in detail to detect any retinal abnormalities and should be managed with aggressive immunosuppression to save their vision.

Research paper thumbnail of Erythema Multiforme‐Like Lesions in a Child

Journal of Paediatrics and Child Health

Update on the COVID-19-associated inflammatory syndrome in children and adolescents; paediatric i... more Update on the COVID-19-associated inflammatory syndrome in children and adolescents; paediatric inflammatory multisystem syndrome-temporally associated with SARS-CoV-2.

Research paper thumbnail of Clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma: 25 years of clinical experience from North-West India

Clinical and Experimental Rheumatology

Objective. To describe the clinical profile, long-term follow-up and outcome of juvenile systemic... more Objective. To describe the clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma (JSSc) from a tertiary care referral hospital in NorthWest India. Methods. A review of case records was performed and children with JSSc (disease onset <14 years of age) were analysed. Diagnosis was based on the Paediatric Rheumatology European Society/American College of Rheumatology/European League against Rheumatism provisional classification criteria for JSSc. Results. Forty patients (28 girls and 12 boys; F:M ratio= 2.3:1) were diagnosed with JSSc (including 22 children with overlap) in the last 25 years. Mean age at symptom onset was 7.75±3.19 years with a mean delay in diagnosis of 2.275±2.09 years. Raynaud's phenomenon was seen in 26/40 (65%) patients at presentation. Lung involvement was noted in 40% patients. Methotrexate was the most commonly used therapy, followed by oral prednisolone. Patients without overlap had higher incidence of cutaneous ulcers as compared to patients with overlap (55% vs. 18%; p-value: 0.01). Patients with overlap required significantly higher oral prednisolone (81% vs. 22%), methotrexate (72% vs. 38%) and hydroxychloroquine (54% vs. 5%) while cyclophosphamide (13% vs. 44%) and azathioprine (9% vs. 44%) were used relatively less in this group. Mortality was 15% at a mean follow-up of 51.75 months. Infections were noted to be the most common cause of death. There was no significant difference in the mortality between patients with and without lung disease or patients with or without overlap. Conclusion. We describe the largest single-centre cohort with longest follow-up of juvenile systemic scleroderma from India.

Research paper thumbnail of sj-pdf-3-tdo-10.1177_0049475520975943 - Supplemental material for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography

Supplemental material, sj-pdf-3-tdo-10.1177_0049475520975943 for A febrile child with a 'bunc... more Supplemental material, sj-pdf-3-tdo-10.1177_0049475520975943 for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography by Pratap Kumar Patra, Aaqib Zaffar Banday, Naveen Bhagat, Pandiarajan Vignesh and Surjit Singh in Tropical Doctor

Research paper thumbnail of sj-pdf-4-tdo-10.1177_0049475520975943 - Supplemental material for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography

Supplemental material, sj-pdf-4-tdo-10.1177_0049475520975943 for A febrile child with a 'bunc... more Supplemental material, sj-pdf-4-tdo-10.1177_0049475520975943 for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography by Pratap Kumar Patra, Aaqib Zaffar Banday, Naveen Bhagat, Pandiarajan Vignesh and Surjit Singh in Tropical Doctor

Research paper thumbnail of Recurrent lupus enteritis in a child—chase the calm before the storm

Lupus, 2021

Systemic lupus erythematosus (SLE) is a complex multisystemic autoimmune disease. Lupus enteritis... more Systemic lupus erythematosus (SLE) is a complex multisystemic autoimmune disease. Lupus enteritis (LE), one of the less commonly described manifestations of childhood SLE, presents with relatively nonspecific clinical and laboratory features. In addition, recurrent episodes of LE occurring in temporal proximity are rare in children. Presence of disease activity at other sites (which may not be seen universally) supports the diagnosis of LE in an appropriate setting. Because of its potential role to cause ischemic complications, early recognition and prompt treatment are necessary for a good outcome. Herein, we describe a child with recurrent LE with an interval of about 3 months between the first and the second episode. The first episode correlated with systemic disease activity and bowel thickening was noted on abdominal ultrasonography. This episode was successfully managed with intravenous methylprednisolone pulse therapy. Conversely, the second episode was not associated with si...

Research paper thumbnail of Development and Validation of Novel Ultra Performance Liquid Chromatography Technique for the Simultaneous Determination of Metformin and Repaglinide in Bulk and Formulation

Journal of Pharmaceutical Research International, 2021

A novel ultra-performance liquid chromatographic technique for the estimation of metformin and re... more A novel ultra-performance liquid chromatographic technique for the estimation of metformin and repaglinide in a API and tablet dosage form. The chromatographic separation was achieved using DIKMA Endoversil (2.1 x 50mm, 1.7µm) column with a mobile phase of phosphate buffer, pH 4.2 and methanol as a mobile phase (38:62) with a flow rate of 0.3 mL/min and the detection wavelength was monitored at 241 nm. The method was validated in accordance with International conference on harmonization guidelines. In this present method metformin was eleued at 0.516 minute and repaglinide was eluted at 1.152 min. Limit of detection was 0.05 μg/ml for metformin and1.152 μg/ml for repaglinide limit of quantification was found 0.5 μg/mL. Calibration curve plots were found linear over the concentration ranges 1-50 μg/mL for both the analytes. The % assay of the marketed dosage form was found 99.45 % for metformin and 97.08 % for repaglinide. The present study approach was found to be effective in the a...

Research paper thumbnail of Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India

Frontiers in Immunology, 2021

BackgroundChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory bu... more BackgroundChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment. However, there is lack of multicentric collaborative data on CGD from India.ObjectiveTo describe infection patterns, immunological, and molecular features of CGD from multiple centers in India.MethodsA detailed proforma that included clinical and laboratory details was prepared and sent to multiple centers in India that are involved in the care and management of patients with inborn errors of immunity. Twelve centers have provided data which were later pooled together and analyzed.ResultsOf the 236 patients analyzed in our study, X-linked and AR-CGD w...

Research paper thumbnail of Meningoencephalitis in Children with Primary Antibody Deficiency: A Single-Center Experience From Northwest India and Review of Literature

Patients with primary antibody deficiency (PAD) are predisposed to develop meningoencephalitis th... more Patients with primary antibody deficiency (PAD) are predisposed to develop meningoencephalitis that is often considered to be enteroviral. However, there is a paucity of literature on this subject, and there are no studies from developing countries. We analyzed our cohort of children with PAD who developed meningoencephalitis. This complication was observed in 11/135 (8.1%) patients with PAD - 4 patients had X-linked agammaglobulinemia (XLA), and 7 had common variable immunodeficiency (CVID). The mean age at onset of neurological illness was 8.6 years (range: 2-28 years). Presenting features included seizures (n=7), neurodevelopmental delay (n=2), regression of milestones (n=1), and acute flaccid paralysis (n=1). Trough IgG levels were found to be low in 9 (81.8%) patients at the time of development of neurological symptoms. Herpes simplex virus (HSV), cytomegalovirus (CMV), and Streptococcus pneumoniae were isolated in 1 patient each. No etiological agent was identified in cerebros...

Research paper thumbnail of Madarosis in acute Kawasaki disease—an uncustomary accompaniment

Clinical Rheumatology, 2021

Research paper thumbnail of Myriad faces of X-linked agammaglobulinemia in a young boy

Research paper thumbnail of Retinal vasculopathy in children with systemic lupus erythematosus: report of two cases

Lupus, 2020

Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with ... more Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with a variable clinical course. SLE is more severe and is associated with higher mortality in children compared to adults. Eye involvement may be seen in up to a third of patients. Retinal vasculopathy is rare in children with SLE. We report two such cases. Both patients in this series had cotton-wool spots on fundus examination, and fundus fluorescein angiography revealed findings of occlusive micro-angiopathy. These findings are characteristic of lupus retinal vasculopathy. Fundus examination is crucial in diagnosing retinal vasculopathy. All children with SLE must be evaluated in detail to detect any retinal abnormalities and should be managed with aggressive immunosuppression to save their vision.

Research paper thumbnail of Splice-site mutation in COPA gene and familial arthritis – a new frontier

Research paper thumbnail of Penetrance of MTHFR, MTRR and SHMT Gene Polymorphism Modulate Folate Metabolism in Maternal Blood and Increases “Risk Factor” in Neural Tube Defects in Eastern India

Human Genetics & Embryology, 2018

Background: Neural Tube Defects (NTDs) are a multifactorial disorder that arises during first mon... more Background: Neural Tube Defects (NTDs) are a multifactorial disorder that arises during first month after conception due to complex interactions between genetic and environmental factors. Role of folate metabolism plays a significant role in determining genetic predisposition of NTDs. Materials and Methods: Present study was conducted to evaluate the allele frequency of folate regulatory candidate genes methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and serine hydroxymethyltransferase (SHMT) as "risk factors" in NTD cases in Indian population. Results: Genomic DNA was isolated from NTD cases, NTD mothers and respective controls. PCR-RFLP analysis was performed using specific set of primers to determine the frequency of genotypes and their alleles after using restriction enzymes-Hinf, MboII, Nde I & EarI. The DNA fragments were separated on agarose gel and visualized by Gel documentation system. MTHFR 667CT genotype reveals variable frequency between homozygous (CC genotype, wild type) 64.00% and heterozygous (CT) condition (32.00%) in NTDs cases. MTHFR 1298AC genotype showed a frequency 35.78% in heterozygous (AC) and 5.54% in homozygous (CC) conditions. Statistical analysis was performed by calculating CC/TT genotype O.R (0.113) and C.I. at 95% (0.0054-2.367) of and of AA/AC genotype O.R. (3.24) at 95% C.I (0.690-15.205) that showed significant (p<0.05) differences between NTD mothers and their respective controls in MTHFR gene. Data was further analyzed by adding "T/C" alleles in MTHFR gene to increase statistical power which further showed significant (p<0.001) differences between NTD cases with respect to controls. MTRR 66A→G gene showed significant (p<0.05) difference between NTDs cases and NTD mothers after combining the genotypes (AA vs. AG+GG). SHMT 1420CT gene showed lack of significant differences between homozygous and heterozygous conditions in NTD cases and NTD mother with their respective control groups. Conclusion: Present study suggests that the variations in the genotype frequency are due to the penetrance of defective allele into maternal gene pool, affecting DNA synthesis during organogenesis leading to the onset of NTDs.

Research paper thumbnail of Genetics of severe combined immunodeficiency

Genes & Diseases, 2019

Severe Combined Immunodeficiency (SCID) is an inherited group of rare, lifethreatening disorders ... more Severe Combined Immunodeficiency (SCID) is an inherited group of rare, lifethreatening disorders due to the defect in T cell development and function. Clinical manifestations are characterised by recurrent and severe bacterial, viral, and fungal opportunistic infections that start from early infancy period. Haematopoietic stem cell transplantation (HSCT) is the treatment of choice. The pattern of inheritance of SCID may be X-linked or autosomal recessive. Though the diagnosis of SCID is usually established by flow cytometry-based tests, genetic diagnosis is often needed for genetic counselling, prognostication, and modification of pre-transplant chemotherapeutic agents. This review aims to highlight the genetic aspects of SCID.

Research paper thumbnail of Tear of long head of biceps following cardiopulmonary resuscitation: a rare complication

BMJ Case Reports, 2019

Cardiopulmonary resuscitation (CPR) is uncommon in routine practice of a paediatrician and injuri... more Cardiopulmonary resuscitation (CPR) is uncommon in routine practice of a paediatrician and injuries arising out of CPR are extremely rare especially in those involving children. A 41-year-old senior resident of paediatrics performed CPR on a young boy, following which he complained of pain in the left shoulder with restriction of all movements and flexion of the left elbow. MRI of the left shoulder revealed tear of the long head of biceps brachii, soft tissue oedema in left deltoid muscle and mild effusion in left glenohumeral joint with extension into subcapsularis bursa. He was treated conservatively with analgesics, following which there was significant improvement and full recovery of shoulder movements. Injuries to the resuscitator have been rarely reported in literature and mostly limited to adult CPR. We report this case to highlight an unusual complication to resuscitator transpiring from paediatric resuscitation.

Research paper thumbnail of Bilateral non-tender parotidomegaly: a clue for underlying HIV infection and lymphocytic interstitial pneumonia

Research paper thumbnail of G6PD deficiency in Hansen’s disease: A preventable peril!

Although under-reported, hemolytic anemia is common with dapsone therapy. However, it is prudent ... more Although under-reported, hemolytic anemia is common with dapsone therapy. However, it is prudent to screen underlying G6PD deficiency to prevent potentially life-threatening episode of intravascular hemolysis in leprosy.

Research paper thumbnail of CD40 gene polymorphism and its expression in children with Kawasaki disease from North India: a preliminary case–control study and meta-analysis

Frontiers in Pediatrics

IntroductionCD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibi... more IntroductionCD40 gene single-nucleotide polymorphisms (SNPs) have been associated with susceptibility and development of coronary artery abnormalities (CAAs) in children with Kawasaki disease (KD) in Japanese, Chinese, and Taiwanese populations. However, data on SNPs of the CD40 gene in patients with KD from the Indian subcontinent are not available. We studied the CD40 gene polymorphisms and its expression in children with KD from North India.MethodsSNPs of the CD40 gene (rs4810485, rs1535045) were studied using Sanger sequencing. CD40 expression was studied by flow cytometry. Meta-analysis was carried out to assess the role of both SNPs of the CD40 gene in KD. GRADEpro GDT software (v.3.2) was used to assess the “certainty of evidence.”ResultsForty-one patients with KD and 41 age-, sex-matched febrile controls were enrolled. However, none of the alleles and genotypes of the CD40 gene were found to be associated with KD. CD40 expression was higher in KD and in KD with CAAs compared...

Research paper thumbnail of Unusual complication of Mycoplasma pneumonia in a five-year-old child

Australasian Medical Journal, 2013

Research paper thumbnail of Retinal vasculopathy in children with systemic lupus erythematosus: report of two cases

Lupus, Jul 28, 2020

Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with ... more Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with a variable clinical course. SLE is more severe and is associated with higher mortality in children compared to adults. Eye involvement may be seen in up to a third of patients. Retinal vasculopathy is rare in children with SLE. We report two such cases. Both patients in this series had cotton-wool spots on fundus examination, and fundus fluorescein angiography revealed findings of occlusive micro-angiopathy. These findings are characteristic of lupus retinal vasculopathy. Fundus examination is crucial in diagnosing retinal vasculopathy. All children with SLE must be evaluated in detail to detect any retinal abnormalities and should be managed with aggressive immunosuppression to save their vision.

Research paper thumbnail of Erythema Multiforme‐Like Lesions in a Child

Journal of Paediatrics and Child Health

Update on the COVID-19-associated inflammatory syndrome in children and adolescents; paediatric i... more Update on the COVID-19-associated inflammatory syndrome in children and adolescents; paediatric inflammatory multisystem syndrome-temporally associated with SARS-CoV-2.

Research paper thumbnail of Clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma: 25 years of clinical experience from North-West India

Clinical and Experimental Rheumatology

Objective. To describe the clinical profile, long-term follow-up and outcome of juvenile systemic... more Objective. To describe the clinical profile, long-term follow-up and outcome of juvenile systemic scleroderma (JSSc) from a tertiary care referral hospital in NorthWest India. Methods. A review of case records was performed and children with JSSc (disease onset <14 years of age) were analysed. Diagnosis was based on the Paediatric Rheumatology European Society/American College of Rheumatology/European League against Rheumatism provisional classification criteria for JSSc. Results. Forty patients (28 girls and 12 boys; F:M ratio= 2.3:1) were diagnosed with JSSc (including 22 children with overlap) in the last 25 years. Mean age at symptom onset was 7.75±3.19 years with a mean delay in diagnosis of 2.275±2.09 years. Raynaud's phenomenon was seen in 26/40 (65%) patients at presentation. Lung involvement was noted in 40% patients. Methotrexate was the most commonly used therapy, followed by oral prednisolone. Patients without overlap had higher incidence of cutaneous ulcers as compared to patients with overlap (55% vs. 18%; p-value: 0.01). Patients with overlap required significantly higher oral prednisolone (81% vs. 22%), methotrexate (72% vs. 38%) and hydroxychloroquine (54% vs. 5%) while cyclophosphamide (13% vs. 44%) and azathioprine (9% vs. 44%) were used relatively less in this group. Mortality was 15% at a mean follow-up of 51.75 months. Infections were noted to be the most common cause of death. There was no significant difference in the mortality between patients with and without lung disease or patients with or without overlap. Conclusion. We describe the largest single-centre cohort with longest follow-up of juvenile systemic scleroderma from India.

Research paper thumbnail of sj-pdf-3-tdo-10.1177_0049475520975943 - Supplemental material for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography

Supplemental material, sj-pdf-3-tdo-10.1177_0049475520975943 for A febrile child with a 'bunc... more Supplemental material, sj-pdf-3-tdo-10.1177_0049475520975943 for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography by Pratap Kumar Patra, Aaqib Zaffar Banday, Naveen Bhagat, Pandiarajan Vignesh and Surjit Singh in Tropical Doctor

Research paper thumbnail of sj-pdf-4-tdo-10.1177_0049475520975943 - Supplemental material for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography

Supplemental material, sj-pdf-4-tdo-10.1177_0049475520975943 for A febrile child with a 'bunc... more Supplemental material, sj-pdf-4-tdo-10.1177_0049475520975943 for A febrile child with a 'bunch of grapes' appearance on neck ultrasonography by Pratap Kumar Patra, Aaqib Zaffar Banday, Naveen Bhagat, Pandiarajan Vignesh and Surjit Singh in Tropical Doctor

Research paper thumbnail of Recurrent lupus enteritis in a child—chase the calm before the storm

Lupus, 2021

Systemic lupus erythematosus (SLE) is a complex multisystemic autoimmune disease. Lupus enteritis... more Systemic lupus erythematosus (SLE) is a complex multisystemic autoimmune disease. Lupus enteritis (LE), one of the less commonly described manifestations of childhood SLE, presents with relatively nonspecific clinical and laboratory features. In addition, recurrent episodes of LE occurring in temporal proximity are rare in children. Presence of disease activity at other sites (which may not be seen universally) supports the diagnosis of LE in an appropriate setting. Because of its potential role to cause ischemic complications, early recognition and prompt treatment are necessary for a good outcome. Herein, we describe a child with recurrent LE with an interval of about 3 months between the first and the second episode. The first episode correlated with systemic disease activity and bowel thickening was noted on abdominal ultrasonography. This episode was successfully managed with intravenous methylprednisolone pulse therapy. Conversely, the second episode was not associated with si...

Research paper thumbnail of Development and Validation of Novel Ultra Performance Liquid Chromatography Technique for the Simultaneous Determination of Metformin and Repaglinide in Bulk and Formulation

Journal of Pharmaceutical Research International, 2021

A novel ultra-performance liquid chromatographic technique for the estimation of metformin and re... more A novel ultra-performance liquid chromatographic technique for the estimation of metformin and repaglinide in a API and tablet dosage form. The chromatographic separation was achieved using DIKMA Endoversil (2.1 x 50mm, 1.7µm) column with a mobile phase of phosphate buffer, pH 4.2 and methanol as a mobile phase (38:62) with a flow rate of 0.3 mL/min and the detection wavelength was monitored at 241 nm. The method was validated in accordance with International conference on harmonization guidelines. In this present method metformin was eleued at 0.516 minute and repaglinide was eluted at 1.152 min. Limit of detection was 0.05 μg/ml for metformin and1.152 μg/ml for repaglinide limit of quantification was found 0.5 μg/mL. Calibration curve plots were found linear over the concentration ranges 1-50 μg/mL for both the analytes. The % assay of the marketed dosage form was found 99.45 % for metformin and 97.08 % for repaglinide. The present study approach was found to be effective in the a...

Research paper thumbnail of Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India

Frontiers in Immunology, 2021

BackgroundChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory bu... more BackgroundChronic granulomatous disease (CGD) is an inherited defect in phagocytic respiratory burst that results in severe and life-threatening infections in affected children. Single center studies from India have shown that proportion of autosomal recessive (AR) CGD is more than that reported from the West. Further, affected patients have high mortality rates due to late referrals and difficulties in accessing appropriate treatment. However, there is lack of multicentric collaborative data on CGD from India.ObjectiveTo describe infection patterns, immunological, and molecular features of CGD from multiple centers in India.MethodsA detailed proforma that included clinical and laboratory details was prepared and sent to multiple centers in India that are involved in the care and management of patients with inborn errors of immunity. Twelve centers have provided data which were later pooled together and analyzed.ResultsOf the 236 patients analyzed in our study, X-linked and AR-CGD w...

Research paper thumbnail of Meningoencephalitis in Children with Primary Antibody Deficiency: A Single-Center Experience From Northwest India and Review of Literature

Patients with primary antibody deficiency (PAD) are predisposed to develop meningoencephalitis th... more Patients with primary antibody deficiency (PAD) are predisposed to develop meningoencephalitis that is often considered to be enteroviral. However, there is a paucity of literature on this subject, and there are no studies from developing countries. We analyzed our cohort of children with PAD who developed meningoencephalitis. This complication was observed in 11/135 (8.1%) patients with PAD - 4 patients had X-linked agammaglobulinemia (XLA), and 7 had common variable immunodeficiency (CVID). The mean age at onset of neurological illness was 8.6 years (range: 2-28 years). Presenting features included seizures (n=7), neurodevelopmental delay (n=2), regression of milestones (n=1), and acute flaccid paralysis (n=1). Trough IgG levels were found to be low in 9 (81.8%) patients at the time of development of neurological symptoms. Herpes simplex virus (HSV), cytomegalovirus (CMV), and Streptococcus pneumoniae were isolated in 1 patient each. No etiological agent was identified in cerebros...

Research paper thumbnail of Madarosis in acute Kawasaki disease—an uncustomary accompaniment

Clinical Rheumatology, 2021

Research paper thumbnail of Myriad faces of X-linked agammaglobulinemia in a young boy

Research paper thumbnail of Retinal vasculopathy in children with systemic lupus erythematosus: report of two cases

Lupus, 2020

Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with ... more Systemic lupus erythematosus (SLE) is a chronic, autoimmune, multisystem disease associated with a variable clinical course. SLE is more severe and is associated with higher mortality in children compared to adults. Eye involvement may be seen in up to a third of patients. Retinal vasculopathy is rare in children with SLE. We report two such cases. Both patients in this series had cotton-wool spots on fundus examination, and fundus fluorescein angiography revealed findings of occlusive micro-angiopathy. These findings are characteristic of lupus retinal vasculopathy. Fundus examination is crucial in diagnosing retinal vasculopathy. All children with SLE must be evaluated in detail to detect any retinal abnormalities and should be managed with aggressive immunosuppression to save their vision.

Research paper thumbnail of Splice-site mutation in COPA gene and familial arthritis – a new frontier

Research paper thumbnail of Penetrance of MTHFR, MTRR and SHMT Gene Polymorphism Modulate Folate Metabolism in Maternal Blood and Increases “Risk Factor” in Neural Tube Defects in Eastern India

Human Genetics & Embryology, 2018

Background: Neural Tube Defects (NTDs) are a multifactorial disorder that arises during first mon... more Background: Neural Tube Defects (NTDs) are a multifactorial disorder that arises during first month after conception due to complex interactions between genetic and environmental factors. Role of folate metabolism plays a significant role in determining genetic predisposition of NTDs. Materials and Methods: Present study was conducted to evaluate the allele frequency of folate regulatory candidate genes methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and serine hydroxymethyltransferase (SHMT) as "risk factors" in NTD cases in Indian population. Results: Genomic DNA was isolated from NTD cases, NTD mothers and respective controls. PCR-RFLP analysis was performed using specific set of primers to determine the frequency of genotypes and their alleles after using restriction enzymes-Hinf, MboII, Nde I & EarI. The DNA fragments were separated on agarose gel and visualized by Gel documentation system. MTHFR 667CT genotype reveals variable frequency between homozygous (CC genotype, wild type) 64.00% and heterozygous (CT) condition (32.00%) in NTDs cases. MTHFR 1298AC genotype showed a frequency 35.78% in heterozygous (AC) and 5.54% in homozygous (CC) conditions. Statistical analysis was performed by calculating CC/TT genotype O.R (0.113) and C.I. at 95% (0.0054-2.367) of and of AA/AC genotype O.R. (3.24) at 95% C.I (0.690-15.205) that showed significant (p<0.05) differences between NTD mothers and their respective controls in MTHFR gene. Data was further analyzed by adding "T/C" alleles in MTHFR gene to increase statistical power which further showed significant (p<0.001) differences between NTD cases with respect to controls. MTRR 66A→G gene showed significant (p<0.05) difference between NTDs cases and NTD mothers after combining the genotypes (AA vs. AG+GG). SHMT 1420CT gene showed lack of significant differences between homozygous and heterozygous conditions in NTD cases and NTD mother with their respective control groups. Conclusion: Present study suggests that the variations in the genotype frequency are due to the penetrance of defective allele into maternal gene pool, affecting DNA synthesis during organogenesis leading to the onset of NTDs.

Research paper thumbnail of Genetics of severe combined immunodeficiency

Genes & Diseases, 2019

Severe Combined Immunodeficiency (SCID) is an inherited group of rare, lifethreatening disorders ... more Severe Combined Immunodeficiency (SCID) is an inherited group of rare, lifethreatening disorders due to the defect in T cell development and function. Clinical manifestations are characterised by recurrent and severe bacterial, viral, and fungal opportunistic infections that start from early infancy period. Haematopoietic stem cell transplantation (HSCT) is the treatment of choice. The pattern of inheritance of SCID may be X-linked or autosomal recessive. Though the diagnosis of SCID is usually established by flow cytometry-based tests, genetic diagnosis is often needed for genetic counselling, prognostication, and modification of pre-transplant chemotherapeutic agents. This review aims to highlight the genetic aspects of SCID.

Research paper thumbnail of Tear of long head of biceps following cardiopulmonary resuscitation: a rare complication

BMJ Case Reports, 2019

Cardiopulmonary resuscitation (CPR) is uncommon in routine practice of a paediatrician and injuri... more Cardiopulmonary resuscitation (CPR) is uncommon in routine practice of a paediatrician and injuries arising out of CPR are extremely rare especially in those involving children. A 41-year-old senior resident of paediatrics performed CPR on a young boy, following which he complained of pain in the left shoulder with restriction of all movements and flexion of the left elbow. MRI of the left shoulder revealed tear of the long head of biceps brachii, soft tissue oedema in left deltoid muscle and mild effusion in left glenohumeral joint with extension into subcapsularis bursa. He was treated conservatively with analgesics, following which there was significant improvement and full recovery of shoulder movements. Injuries to the resuscitator have been rarely reported in literature and mostly limited to adult CPR. We report this case to highlight an unusual complication to resuscitator transpiring from paediatric resuscitation.

Research paper thumbnail of Bilateral non-tender parotidomegaly: a clue for underlying HIV infection and lymphocytic interstitial pneumonia

Research paper thumbnail of G6PD deficiency in Hansen’s disease: A preventable peril!

Although under-reported, hemolytic anemia is common with dapsone therapy. However, it is prudent ... more Although under-reported, hemolytic anemia is common with dapsone therapy. However, it is prudent to screen underlying G6PD deficiency to prevent potentially life-threatening episode of intravascular hemolysis in leprosy.