Ruxolitinib in treatment-naive or corticosteroid-refractory paediatric patients with chronic graft-versus-host disease (REACH5): interim analysis of a single-arm, multicentre, phase 2 study.

Background: Chronic graft-versus-host disease (GVHD) is a debilitating, and sometimes life threatening, complication of allogeneic haematopoietic stem-cell transplantation (HSCT). We aimed to investigate the activity, pharmacokinetics, and safety of ruxolitinib added to corticosteroids in paediatric patients (ie, <18 years) with moderate-to-severe chronic GVHD.

Methods: In this single-arm, phase 2 study, patients were recruited at 21 hospitals or clinics across 14 countries in Asia, Europe, and Canada.

Impact of Conditioning Regimen and Graft-versus-Host Disease Prophylaxis on The Outcome of Haploidentical Peripheral Blood Stem Cell Transplantation for High-Risk Severe Aplastic Anemia in Children and Young Adults: A Report from the Pediatric Severe Aplastic Anemia Consortium of India.

Allogenic hematopoietic cell transplantation (HCT) is the best curative approach for patients with severe aplastic anemia (SAA). The outcomes of HCT from haploidentical family donors (HFDs) have improved, making it a feasible option for patients lacking an HLA-identical donor. However, data on HFD-HCT for younger patients with SAA is sparse.

Isolated Infratemporal Fossa Desmoid Fibromatosis: A Rare Case Report and Review of Literature.

Desmoid fibromatosis (DF) arising from musculoaponeurotic structures rarely affects the head and neck region with the abdomen being the most common site of origin. These are benign tumors with locally infiltrative nature usually presenting as painless swellings that are rapidly growing. The infratemporal fossa DF is an extremely rare location with few clinical reports.

Diagnosis, Treatment and Prevention of Nutritional Anemia in Children: Recommendations of the Joint Committee of Pediatric Hematology-Oncology Chapter and Pediatric and Adolescent Nutrition Society of the Indian Academy of Pediatrics.

Justification: Anemia in children is a significant public health problem in our country. Comprehensive National Nutrition Survey 2016-18 provides evidence that more than 50% of childhood anemia is due to an underlying nutritional deficiency. The National Family Health Survey-5 has reported an increase in the prevalence of anemia in the under-five age group from 59% to 67.

Diagnosis and Management of Acquired Aplastic Anemia: Consensus Statement of Indian Academy of Pediatrics.

Justification: In India, there is a lack of uniformity of treatment strategies for aplastic anemia (AA), and many children are managed only with supportive care due to non-availability of hematopoietic stem cell transplantation (HSCT).

Process: Eminent national faculty members were invited to participate in the process of forming a consensus statement in Hyderabad in July, 2016. Draft guidelines were circulated to all members, and comments received in a online meeting in October, 2020 were incorporated into the final draft.

A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.

Fanconi anemia (FA) is a rare autosomal or X-linked genetic disorder characterized by chromosomal breakages, congenital abnormalities, bone marrow failure (BMF), and cancer. There has been a discovery of 22 FANC genes known to be involved in the FA pathway. This wide number of pathway components makes molecular diagnosis challenging for FA.

Natural Killer Cell Enteropathy With Extraintestinal Involvement: Presenting as Symptomatic Anemia.

Natural killer (NK) cell enteropathy is a newly described disease entity with benign behavior and an indolent clinical course, characterized by the atypical proliferation of NK cells throughout the gastrointestinal tract. The exact etiology is unknown. It closely mimics NK/T-cell lymphoma.

The setting up and running of a children's activity group and learning centre for children with haematological and oncology conditions.

Background: Children diagnosed with haematological and oncology conditions spend long periods of time undergoing treatments in hospital. Treatments are intensive and may include combinations of chemotherapy, radiation, surgery and bone marrow transplants. This often means that they have prolonged hospital stays away from family, friends and familiar environments.

Basidiobolomycosis of Right Colon Mimicking as Carcinoma of Colon.

Gastrointestinal basidiobolomycosis (GIB) is a rare fungal infection with limited geographic distribution. However, the incidence of GIB has shown an increasing trend because of globalization and frequent traveling. GIB is commonly seen to mimic gastrointestinal malignancy and other diseases such as intestinal tuberculosis and inflammatory bowel disease.

Clinical and Molecular Findings in Mendelian Susceptibility to Mycobacterial Diseases: Experience From India.

Mendelian Susceptibility to Mycobacterial diseases (MSMD) are a group of innate immune defects with more than 17 genes and 32 clinical phenotypes identified. Defects in the IFN-γ mediated immunity lead to an increased susceptibility to intracellular pathogens like mycobacteria including attenuated -Bacillus Calmette-Guérin (BCG) vaccine strains and non-tuberculous environmental mycobacteria (NTM), , fungi, parasites like and some viruses, in otherwise healthy individuals. Mutations in the gene are the commonest genetic defects identified.

Multicenter Outcome of Hematopoietic Stem Cell Transplantation for Primary Immune Deficiency Disorders in India.

Background: Hematopoietic stem cell transplantation (HSCT) is the curative option for many primary immune deficiency disorders (PID). In the last 5 years, increased awareness, availability of diagnostics based on flow cytometry, genetic testing, improved supportive care, use of reduced toxicity conditioning, and success of haploidentical donor HSCT have improved access to HSCT for children with PID in India. We present results on children with PID who underwent HSCT across India and the factors that influenced outcome.

IgG4-related sclerosing cholangitis- A great mimicker.

IgG4-related disease (IgG4 RD) is a multisystem disorder characterized by tumefactive (mass forming) lesions, storiform fibrosis, and IgG4-positive plasma cell infiltration. IgG4 sclerosing cholangitis (IgG4 SC) is the biliary manifestation of IgG4 RD, often in association with autoimmune pancreatitis (AIP). Here, we report two patients with IgG4-related cholangitis mimicking primary sclerosing cholangitis.

Quantification of Liver Iron Overload: Correlation of MRI and Liver Tissue Biopsy in Pediatric Thalassemia Major Patients Undergoing Bone Marrow Transplant.

Determination of the magnitude of body iron stores helps to identify individuals at risk of iron-induced organ damage in Thalassemia patients. The most direct clinical method of measuring liver iron concentration (LIC) is through chemical analysis of needle biopsy specimens. Here we present a noninvasive method for the measurement of LIC in vivo using magnetic resonance imaging (MRI).

Global Retinoblastoma Presentation and Analysis by National Income Level.

Importance: Early diagnosis of retinoblastoma, the most common intraocular cancer, can save both a child's life and vision. However, anecdotal evidence suggests that many children across the world are diagnosed late. To our knowledge, the clinical presentation of retinoblastoma has never been assessed on a global scale.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL).

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is one of the most common heritable cerebral arteriopathy. Responsible for stroke and dementia in young adults and can be diagnosed by skin biopsy. We report a case of a 42 year old man with recurrent transient ischemic attacks (TIA).

A Novel Splice Site Mutation in in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.

Primary immunodeficiency (PID) refers to a group of heterogeneous genetic disorders with a weakened immune system. Mendelian susceptibility to mycobacterial disease (MSMD) is a subset of PID in which patients exhibit defects in intrinsic and innate immunity. It is a rare congenital disorder characterized by severe and recurrent infections caused by weakly virulent mycobacteria or other environmental mycobacteria.

Summary of the Highlights of 2019 ASTCT Meeting by iNDUS BMT Group at Chennai, India.

This article summarises the main highlights of the abstracts presented at the annual meeting of American Society of Transplantation and Cellular Therapy (ASTCT). The highlights of ASTCT meeting were organised by iNDUS BMT group in Chennai, India. The purpose of the highlight meeting was to educate the students about the latest research in the field of hematopoietic stem cell transplantation and its applicability for the developing country perspective.

Spectrum of Cerebral Venous Thrombosis in Uttarakhand.

Background: CVT is an uncommon but important cause of stroke that is often misdiagnosed delaying its treatment. High suspicion is essential in early recognition and treatment.

Objective: To study the clinical features and etiology of patients with Cerebral Venous Thrombosis (CVT) and relation between septic and non septic CVT if any.

Family-Based Next-Generation Sequencing Study Identifies an Variant in an Infant with Primary Immunodeficiency.

Primary immunodeficiencies (PIDs) are a rare and heterogeneous group of inherited genetic disorders that are characterized by an absent or impaired immune system. In this report, we describe the use of next-generation sequencing to investigate a male infant with clinical and immunological manifestations suggestive of a PID. Whole-exome sequencing of the infant along with his parents revealed a novel nucleotide variant (cytosine to adenine substitution at nucleotide position 252) in the coding region of the interleukin 2 receptor subunit gamma () gene.

Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction.

Objectives: Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing hereditary non-spherocytic hemolytic anemia (HNSHA) coupled with a neurological disorder. The aim of this study was to identify GPI genetic defects in a cohort of Indian patients with HNSHA coupled with neurological dysfunction.

Methods: Thirty-five patients were screened for GPI deficiency in the HNSHA patient group; some were having neurological dysfunction.

Umbilical Cord Blood Banking: Consensus Statement of the Indian Academy of Pediatrics.

Justification: Practitioners and people need information about the therapeutic potential of umbilical cord blood stem cells and pros and cons of storing cord blood in public versus private banks.

Process: Indian Academy of Pediatrics conducted a consultative meeting on umbilical cord blood banking on 25th June 2016 in Pune, attended by experts in the field of hematopoietic stem cell transplantation working across India. Review of scientific literature was also performed.

Post stem cell transplantation revaccination: A survey of the current practices in India.

Background: Hematopoietic stem cell transplant (HSCT) recipients are more susceptible to infections from vaccine preventable diseases (VPDs) than the general population. Indian stem cell transplant registry (ISCTR) post-BMT vaccination guidelines were formulated in 2015. The objective of the survey was to assess the compliance to these guidelines among transplant physicians in India.