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Papers by prateek bhatia

Indian Journal of Hematology and Blood Transfusion, 2016

Soluble serum transferrin receptor is derived from erythroid transferrin receptor expressed on su... more Soluble serum transferrin receptor is derived from erythroid transferrin receptor expressed on surface of developing erythroid cells. It can be detected in blood using sensitive ELISA methodology and blood levels reflect physiological iron dependent erythropoiesis state in bone marrow. Normal adult levels vary from 2 to 5 mg/l. However, pediatric studies are few and describe normal ranges to the tune of 1.0-3.0 mg/l, which are relatively lower than that of adults. In present study 40 healthy children (2-12 years) were evaluated to establish normal soluble transferrin receptor range. The mean transferrin receptor levels were 0.39 mg/l with a range of 0.17-2.1 mg/l. The levels were low as compared to mean levels described in other studies from West and our country (4.39 and 2.0 mg/l respectively). Since, no internationally standard method for reporting and testing for transferrin receptor levels are yet available, hence it is imperative to establish normal control ranges in different population cohorts, especially in pediatric age group, to better interpret their levels in diagnostic context.

International Journal of Laboratory Hematology, 2020

Haemolytic uraemic syndrome (HUS) includes the triad of nonimmune haemolytic anaemia, acute kidne... more Haemolytic uraemic syndrome (HUS) includes the triad of nonimmune haemolytic anaemia, acute kidney injury and thrombocytopenia. 1 Presence of schistocytes in peripheral blood smear, a characteristic finding and diagnostic criteria in HUS, is due to microvascular haemolysis. 2 The International Council for Standardization of Haematology (ICSH) framed guidelines for reporting the presence of schistocytes. 3 However, it still has interobserver bias. 4 Moreover, requirement of expertise for reporting makes it difficult in suburban areas. Automated fragmented RBC count and the derived percentage (FRC %) has been studied in haemolysis due to various clinical conditions like thrombotic microangiopathy (TMA) in post-transplantation and thrombotic thrombocytopenic purpura (TTP). 5,6 However, evaluation of its role in paediatric HUS is scarce. We performed this study to assess the role of automated FRC% in children with HUS.

Journal of Pediatric Critical Care, 2018

Background : Serum ferritin (SF) increases signifi cantly during acute infections. However, data ... more Background : Serum ferritin (SF) increases signifi cantly during acute infections. However, data on its behaviour in iron-defi cient children are scarce. Methods : Prospective patients (6mo-12 yrs) (n=42) with septic shock were enrolled at a tertiary-care hospital in India during Janâ€™2016-Junâ€™2017. SF was measured at enrolment and at 1 month of hospital discharge while not on iron supplementation. CRP and PeLOD score were also assessed. SF in healthy siblings of patients (n=36) sharing same kitchen was taken as surrogate of baseline value. Patients/controls with blood transfusion/iron supplement during last 6 months, or with chronic disease were excluded. Results : Mean age was 51Â±44 months, 31% of patients (n=13) were malnourished, majority (n=36, 86%) had anemia, and a third had microcytic hypochromic red cells. Four patients had culturepositive sepsis at admission. Enrolment SF was 1048Â±1281ng/ mL; two patients had values >3000ng/mL, one died and another

This is an Open Access article distributed under the terms of the Creative Commons Attribution Li... more This is an Open Access article distributed under the terms of the Creative Commons Attribution License

BMC Gastroenterology, 2021

Background Polymorphisms in thiopurine methyltransferase (TPMT) and Nudix hydrolase-15 (NUDT15) h... more Background Polymorphisms in thiopurine methyltransferase (TPMT) and Nudix hydrolase-15 (NUDT15) have been implicated as the predominant cause of thiopurine induced leukopenia in the Western countries and East Asia respectively. Exact role of these polymorphisms in South Asian population with inflammatory bowel disease (IBD) is uncertain. Methods We included consecutive patients with IBD who were initiated on thiopurines at a center in North India. The dosage of thiopurines was titrated using regular monitoring of hemogram and liver function tests. Three TPMT polymorphisms (c.238 G > C, c.460 G > A, and c.719A > G) and one NUDT15 polymorphism (c.415 C > T) were assessed. Comparison regarding incidence of leukopenia and maximum tolerated thiopurine dosage was performed between those with wild polymorphism and those with TPMT and NUDT15 polymorphisms, respectively. Results Of the 119 patients (61 males, mean age 36.8 ± 13.5 years), 105 (88.2%) had ulcerative colitis and 14 ...

Autopsy Case Reports, 2021

Peritoneal lymphomatosis (PL) is a rare presentation of extranodal precursor leukemia/lymphoma. T... more Peritoneal lymphomatosis (PL) is a rare presentation of extranodal precursor leukemia/lymphoma. The presentation is often non-specific, leading to delayed diagnosis and treatment. In this case, though the preliminary diagnosis was established on ascitic fluid cytology, the disease progressed rapidly, leading to demise before initiating chemotherapy. Immunophenotyping and molecular studies, performed later, established a diagnosis of de novo B-cell precursor leukemia/ lymphoma with MYC, BCL2 rearrangements (Double-hit lymphoma). MYC, BCL2 rearrangements are rarely reported in precursor B-lymphoma/leukemia which carry dismal prognosis. In this report, we illustrate autopsy findings of PL in an elderly gentleman who presented with ascites for evaluation.

Pediatric endocrinology, diabetes, and metabolism, 2021

INTRODUCTION Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is of... more INTRODUCTION Homozygous familial hypercholesterolaemia (HoFH) carries a grave prognosis but is often underdiagnosed and undertreated. Confirmation of molecular diagnosis helps in planning effective management and determining prognosis accurately. Aim of the study: To determine the spectrum of mutations in the LDLR gene in a cohort of children with a clinical diagnosis of HoFH. MATERIAL AND METHODS Genomic DNA was extracted from peripheral blood samples of 8 patients, who were children of either sex, aged under 16 years, and diagnosed clinically with HoFH using the Simon Broome criteria. The potential variants in the LDLR gene were analysed by Sanger sequencing. RESULTS Fifty variations were found in the 8 patients; 39 (78%) were single nucleotide variations while 8 (16%) and 3 (6%) were deletions and insertions, respectively. The pathogenic variants in the LDLR gene were detected in four patients; three showed duplication in exon 17 (c.2416dupG) creating an amino acid change at posi...

Oxford Medical Case Reports, 2019

Lipodystrophy syndromes can be acquired or hereditary in nature and are characterized by abnormal... more Lipodystrophy syndromes can be acquired or hereditary in nature and are characterized by abnormal fat distribution including the inability of the body to develop and sustain healthy adipose tissue. They may be generalized or partial in nature. The congenital generalized form is termed as Berardinelli–Seip syndrome and may occur due to mutations in the AGPAT2 or BSCL2 genes. In this case report, we present an infant diagnosed with type-1 Berardinelli–Seip syndrome due to pathogenic variation in the AGPAT2 gene. Though this type of lipodystrophy is less severe than the type-2 form, the case highlights the early presentation of the condition in infancy with increased frequency of stools and hypertriglyceridemia. In addition, we want to highlight that identification of characteristic physical appearances and recognition of abnormal findings during basic investigations is important, which can guide a clinician in making a correct diagnosis.

Background: Hyperferritinemia is increasingly associated with mortality in sepsis. Studies estima... more Background: Hyperferritinemia is increasingly associated with mortality in sepsis. Studies estimating the prevalence of hyperferritinemia in pediatric scrub typhus is limited.Methods: We conducted a prospective observational study from a tertiary care teaching hospital in North India where 72 children with confirmed scrub typhus;17(24%)-PCR positive, 68(94%)-IgM ELISA positive and 13(18%)-both PCR and ELISA positive. Serum ferritin was measured in 62 children to identify the prevalence of hyperferritinemia and determine its association with mortality. Results: Hyperferritinemia (>500µg/L) was seen in 72.6% [n=45] children; 26(42%) were mild (500-2000µg/L), 13(21%) were moderate (2000-10000µg/L) and 6(9.7%) were severe (>10000µg/L). A biphasic pattern of hyperferritinemia was seen with two peaks when plotted against duration since symptoms onset; one between 2 and 3 days (early onset hyperferritinemia) and second peak between 12 and14 days (late onset hyperferritinemia). Early ...

Indian Journal of Pediatrics, 2021

In this hospital-based, cross-sectional study, immunoglobulin levels and lymphocyte subsets statu... more In this hospital-based, cross-sectional study, immunoglobulin levels and lymphocyte subsets status were evaluated in children with infantile tremor syndrome (ITS) [neurocutaneous infantile B12 deficiency (NIB) syndrome]. Blood samples were drawn at the baseline (n = 28) and at 6 wk (n = 25) after treatment. A low IgG/IgA or IgM was more likely in untreated children than post-treatment (p = 0.0368). Low B cells were observed in 9 (36%), low T cells in 5 (20%), and low NK cells in 2 patients. T cell subset analysis showed low CD4 + helper T cells in 5 (20%) and low CD8 + cytotoxic T cells in 2 patients. Abnormally low percentage of low B cell/T cells/NK cells was more likely in untreated children than post-treatment (p = 0.0165). In conclusion, a proportion of children with ITS have changes in immunoglobulin and T cell subsets not consistent with any clearly defined immune abnormality, and not all such changes revert at 6 wk.

Frontiers in Immunology, 2021

BackgroundWiskott Aldrich syndrome (WAS) is characterized by bleeding manifestations, recurrent i... more BackgroundWiskott Aldrich syndrome (WAS) is characterized by bleeding manifestations, recurrent infections, eczema, autoimmunity, and malignancy. Over the last decade, improved awareness and better in-house diagnostic facilities at several centers in India has resulted in increased recognition of WAS. This study reports collated data across major primary immunodeficiency diseases (PID) centers in India that are involved in care of children with WAS and highlights the varied clinical presentations, genetic profile, and outcomes of patients in India.MethodsRequest to share data was sent to multiple centers in India that are involved in care and management of patients with PID. Six centers provided requisite data that were compiled and analyzed.ResultsIn this multi-institutional cohort, clinical details of 108 patients who had a provisional diagnosis of WAS were received. Of these, 95 patients with ‘definite WAS’ were included Fourteen patients were classified as XLT and 81 patients as...

Drug Metabolism and Personalized Therapy, 2021

Blood Cells, Molecules, and Diseases, 2021

Purpose: Despite increases in formal education, changing trends affecting epidemiologic practice ... more Purpose: Despite increases in formal education, changing trends affecting epidemiologic practice prompted concerns over whether epidemiologists had sufficient training. Methods: This study sought to explain factors that predicted low self-reported proficiency levels among daily important work tasks of state health agencies' epidemiologists. The number of knowledge gaps, instances where epidemiologists identified a work-related task both as 'very' important in their daily work and felt they were "unable to perform" or performed at a "beginner" level, was studied, and predictor variables were assessed. A total of 681 epidemiologists responded to the 2014 Public Health Workforce Interests and Needs Survey, a national survey of state health agency workers; epidemiologists represented 7% of all respondents. Results: Epidemiologists at state health agencies worked mostly in communicable disease (31%) or general surveillance (26%). Epidemiologists reported eight key daily work-related activities with an average of three training gaps. Factors that decreased the likelihood of epidemiologists' low proficiency in performing key activities were the presence of internal trainings (adjusted odds ratio ¼ 0.69, 95% confidence interval, 0.49e0.99) and length of time working in public health (adjusted odds ratio ¼ 0.95, 95% confidence interval, 0.93e0.98). Conclusion: Although formal education of epidemiologists is on the rise, state health agencies' epidemiologists feel unprepared to tackle one-third of their important daily tasks.

Frontiers in Pediatrics, 2020

Objective: To evaluate serial ferritin levels measured in the initial 72 h of admission as a biom... more Objective: To evaluate serial ferritin levels measured in the initial 72 h of admission as a biomarker for new and progressive multi organ dysfunction syndrome (NPMODS) and mortality (unfavorable outcomes) in critically ill children with sepsis due to tropical infections.Material and Methods: In this prospective observational study from a tertiary care teaching hospital in India, children 3 month to 12 years with a diagnosis of acute febrile illness and any two features suggesting tropical infections [cytopenia (platelet count <1,00,000/cu.mm, total leucocyte count <4,000/cu.mm), hepatomegaly and/or splenomegaly, lymphadenopathy, systemic signs (rash, edema), respiratory distress, and encephalopathy not accounted by localized infection] were eligible for inclusion. Children with known or suspected disorder of iron metabolism were excluded. Primary outcome was to determine the association of serial ferritin levels with mortality and NPMODS. Secondary outcomes included estimatio...

Pediatric Hematology Oncology Journal, 2019

In 2015, Action Contre la Faim launched a campaign calling on the UN to create a new post, that o... more In 2015, Action Contre la Faim launched a campaign calling on the UN to create a new post, that of a Special Rapporteur for the protection of humanitarian aid workers. Critics of the proposal claimed, inter alia, that creating such a post would imply that aid workers were a special category of civilians, worthy of protection over and above that accorded the wider population in the contexts in which they work. 1 This raises an important issue which runs deeper than the campaign for a Special Rapporteur. The present article argues that, with or without such a post, the current situation is one in which humanitarian agencies treat aid workers as distinct and separate from the wider civilian population, and take significantly different measures for the safety of their staff from those they take for other civilians. For the most part, the distinction and associated differences are uncritically accepted, and this article sets out to challenge such acceptance by highlighting the nature of the differences, assessing possible explanations for the underlying distinction and considering its implications. Through this analysis, the article argues that this distinction not only reflects but also reinforces an unequal valuing of lives internationally.

Autopsy and Case Reports, 2020

Langerhans cell histiocytosis (LCH), a disorder of antigen-presenting cells, is the commonest dis... more Langerhans cell histiocytosis (LCH), a disorder of antigen-presenting cells, is the commonest disorder of the mononuclear phagocytic system. Diagnosis is always challenging due to heterogeneous clinical presentation. However, with the evolution and better understanding of its biology, many of these children are being diagnosed early and offered appropriate therapy. Despite these advances, in developing countries, an early diagnosis is still challenging due to resource constraints for specialized tests. As a result, many patients succumb to their disease. Autopsy data on LCH is notably lacking in the literature. We sought to analyze the clinical (including mutational) and morphologic features at autopsy in six proven cases of LCH. This study includes a detailed clinico-pathological and mutational analysis of 6 proven cases of LCH. Presence of BRAF V600E mutation was assessed by both Real Time PCR and Sanger sequencing. A varied spectrum of organ involvement was noted with some rare and novel morphological findings, like nodular bronchiolocentric infiltration of LCH cells, lymphovascular emboli of LCH cells, and paucity of eosinophils within the infiltrate; these features have not been described earlier. Surprisingly, all cases were negative for BRAF V600E mutation on both RQ-PCR and Sanger sequencing. The present study is perhaps the first autopsy series on LCH. This extensive autopsy analysis represents a correlation of pathological features with clinical symptoms which provides clues for a timely diagnosis and appropriate therapeutic intervention. Also, our findings hint at the low frequency of BRAF V600E mutation in our LCH patients.

CML is a clonal myeloproliferative disorder of pluripotent stem cells driven by a reciprocal tran... more CML is a clonal myeloproliferative disorder of pluripotent stem cells driven by a reciprocal translocation between chromosome 9 and 22, forming a BCR-ABL fusion gene. Tyrosine kinase inhibitor drugs like imatinib are mainstay of treatment and cases resistant to these drugs have a poor prognosis in absence of a compatible stem-cell donor. However, with rapid advancements in the gene editing technologies, most studies are now focusing on developing a translational model targeting single gene disorders with prospective permanent cure. The present study explores the potential application of the RNA targeting CRISPR Cas13a system for effective knockdown of BCR-ABL fusion transcript in K562 cell line. The CRISPR system was successfully able to lower the expression of downstream genes (pCRKL and pCRK) dependent on the activated BCR-ABL kinase signal by up-to 4.3 folds. The time dependent kinetics also highlighted the significant in-vitro suppressive activity to last up to 8 weeks (p-value:...

Indian Pediatrics, 2018

Objective: To evaluate the efficacy of prolonged deferiprone monotherapy in patients with βthalas... more Objective: To evaluate the efficacy of prolonged deferiprone monotherapy in patients with βthalassemia major. Methods: This cross-sectional study included 40 patients (age range 9 to 38 years) with thalassemia major receiving deferiprone for ≥5 years. Serum ferritin, and myocardial iron concentration (MIC) and liver iron concentration (LIC) assessed by T2*MRI were recorded. Results: The patients were receiving deferiprone for a mean (SD) duration of 12.1 (4.7) years. The median (IQR) dose of deferiprone was 85 (74.3, 95) mg/kg/day. The MIC was normal or had a mild, moderate or severe elevation in 29 (72.5%), 3 (7.5%), 3 (7.5%), and 5 (12.5%) patients. The LIC was normal or had a mild, moderate or severe elevation in 2 (5%), 4 (10%), 11 (27.5%) and 23 (57.5%) patients. Conclusions: The majority of patients receiving deferiprone had a moderate/severe hepatic but normal cardiac iron load. Prolonged deferiprone monotherapy was suboptimal for hepatic iron load in the majority.

HemaSphere, 2019

Background: Elucidation of the genetic landscape of acute lymphoblastic leukemia (ALL), has paved... more Background: Elucidation of the genetic landscape of acute lymphoblastic leukemia (ALL), has paved the way for improving outcomes through risk stratification and targeted therapy. Aims: To detect common genetic aberrations in children with TALL and identify their clinical significance Methods: Children diagnosed with TALL between September 2015 and December 2018 were included. Reverse-transcriptase polymerase chain reaction (RT-PCR) was performed to detect oncogenic transcripts: TLX-1, TLX-3 and SIL-TALI. RT-PCR followed by bidirectional sequencing was used to detect NOTCH1 mutations. Multiplex Ligation-dependent Probe Amplification was performed for identifying copy number variations (CNV). Clinical details were obtained retrospectively till September 2016 and prospectively subsequently. Treatment was administered as per the Indian Collaborative Childhood Leukemia protocol (ICICLE). The study was funded by the Council of Scientific and Industrial Research, India. Results: Thirty-three children with TALL with a mean age of 6.7±2.7 years (range: 1.1-11.5) were included. TLX1 and TLX-3 overexpression were detected in 1 (3%) and 7 (21%) patients. The SIL-TAL1 fusion transcript was identified in 8 (27%) patients. Of the 19 patients in whom the NOTCH1 gene could be adequately assessed, 16 (84%) had evidence of mutations. The NOTCH1 mutations identified were point mutations in the HD domain, frame shift mutations in the PEST domain and multiple domain mutations in 11 (69%), 3 (19%) and 2 (12%) patients. The commonest CNVs were detected in the cell cycle genes CDKN2A (90%) and CDKN2B (80%), followed by the epigenetic regulator gene PHF6 (87%). Figure 1 illustrates the genetic aberrations detected in the study. Relapse and induction failure occurred in 8 (25%) and 2 (6%) patients, respectively. The median follow-up duration was 14 months (range: 0.5-36). The mean time to relapse was 16.2 months (95% CI: 9.7-22.8). A greater proportion of relapses were observed in patients with NOTCH1 mutations in the PEST/multiple domains when compared to patients with mutations in the HD domain (80% vs. 18%, P ¼ 0.036). Conclusion: NOTCH1 mutations were identified in 84% of TALL patients. Mutations in PEST/multiple domains of NOTCH1 were associated with greater proportion of relapses. The commonest copy number variations were identified in the cell cycle and epigenetic regulator genes.

JGH Open, 2019

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyl... more Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. Here we present a case of a young female from northern India, who presented with blood-admixed diarrhea without any feature of any other system involvement. She was diagnosed and treated as ulcerative colitis for two years with ambivalent response, although the compliance to therapy was also poor. She was re-evaluated when she presented with recurrence of symptoms and new onset dysphagia. On evaluation, she was diagnosed as hereditary transthyrtetin related amyloidosis.