Translation and Pilot Validation of the EORTC QLQ-NHL-HG29 Module in Indian Languages (Hindi and Marathi) for Use in Indian Patients with Non-Hodgkin's Lymphoma.

Roshankumar PatilBackground Cancer and its related treatments have a huge impact on a patient's quality of life (QOL). To measure such QOL in cancer patients, the European Organization for Research and Treatment of Cancer (EORTC) has introduced various scales/questionnaires for various cancers. In the present study, we aimed to translate and validate high-grade Non-Hodgkin's lymphoma (NHL-HG) English questionnaire (EORTC QLQ-NHL-HG29) into Hindi and Marathi (two of the most popular Indian language) to make it available for patients and the scientific community. Materials and methods The EORTC QLQ-NHL-HG29 was translated into Hindi and Marathi languages as per EORTC guidelines. The translated questionnaire was pilot-tested in a sample of 20 patients (10 for each translation) with NHL-HG. Results After procuring required approvals from EORTC, the existing QLQ-NHL-HG29 English questionnaire was translated (forward and backward) into vernacular languages (Hindi and Marathi). Later, the translations were sent to EORTC for evaluation and all the queries raised by EORTC toward translations were discussed and included in the final questionnaires as per EORTC guidelines. On receiving approval from EORTC translation coordinator, pilot study was conducted in 20 patients. In the pilot study, 10 patients were given the Hindi questionnaire and other 10 patients were given the Marathi questionnaire. Based on the pilot testing interpretations or suggestions from the patients, all the necessary modifications were incorporated in the questionnaires and sent to EORTC for validation and approval. Conclusion Both the translations (Hindi and Marathi) submitted to the EORTC have now been approved (QLQ-NHL-HG29) by the EORTC-QOL unit and after procuring necessary permissions from the EORTC both of these translations can be used reliably in clinical practice and clinical trials to assess QOL in patients suffering from NHL-HG.

Mutation profile in Indian primary myelofibrosis patients and its clinical implications.

BACKGROUND: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients. MATERIALS AND METHODS: All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded. RESULTS: Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow. CONCLUSION: This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A).

Adenylate kinase (AK) deficiency is a rare erythroenzymopathy associated with hereditary nonspherocytic haemolytic anaemia along with mental/psychomotor retardation in few cases. Diagnosis of AK deficiency depends on the decreased level of enzyme activity in red cell and identification of a mutation in the AK1 gene. Until, only eight mutations causing AK deficiency have been reported in the literature. We are reporting two novel missense mutation (c.71A > G and c.413G > A) detected in the AK1 gene by next-generation sequencing (NGS) in a 6-year-old male child from India. Red cell AK enzyme activity was found to be 30% normal. We have screened a total of 32 family members of the patient and showed reduced red cell enzyme activity and confirm mutations by Sanger's sequencing. On the basis of Sanger sequencing, we suggest that the proband has inherited a mutation in AK1 gene exon 4 c.71A > G (p.Gln24Arg) from paternal family and exon 6 c.413G > A (p.Arg138His) from maternal family. Bioinformatics tools, such as SIFT, Polymorphism Phenotyping v.2, Mutation Taster, MutPred, also confirmed the deleterious effect of both the mutations. Molecular modelling suggests that the structural changes induced by p.Gln24Arg and p.Arg138His are pathogenic variants having a direct impact on the structural arrangement of the region close to the active site of the enzyme. In conclusion, NGS will be the best solution for diagnosis of very rare disorders leading to better management of the disease. This is the first report of the red cell AK deficiency from the Indian population.

Use of Dexmedetomidine in Patients Undergoing Craniotomies.

INTRODUCTION: The neuroanaesthesia ensures stable perioperative cerebral haemodynamics, avoids sudden rise in intracranial pressure and prevents acute brain swelling. The clinical characteristics of dexmeditomidine make this intravenous agent a potentially attractive adjunct for neuroanaesthesia and in the neurological intensive care unit. AIM: This study aimed to assess the effect of dexmedetomidine on intraoperative haemodynamic stability and to assess the intraoperative requirements of analgesic and other anaesthetic agents, and also to assess postoperative sedation, respiratory depression and any other side effects of dexmedetomidine as compared to placebo. MATERIALS AND METHODS: This prospective randomized study was done in 60 patients of either sex, age between 18 to 60 years and American Society of Anaesthesiologist (ASA) Grade I and II undergoing elective craniotomies under General Anaesthesia (GA) for intracranial Space Occupying Lesion (SOL). These 60 patients underwent thorough history, clinical examination and laboratory investigations. They were randomly divided into two groups, Group D (received Inj. Dexmedetomidine) and Group P (received Inj. Placebo). During bolus and infusion Heart Rate (HR), Systolic Blood Pressure (SBP), Diastolic Blood Pressure (DBP), Mean Arterial Pressure (MAP), Peripheral oxygen saturation (SPO2) was recorded at every five minutes interval for first 20 minute. RESULTS: The mean age in Group D was 39.5 years and in Group P was 40 years. The sex distribution in two groups was in Group D, 12 patients (40%) were females and 18 (60%) patients were males. While in Group P 10 (33.3%) were females and 20 (66.7%) patients were males. The two groups were comparable with respect to diagnosis and type of surgery of patients and difference was not statistically significant. The mean HR, the mean DBP and the mean MAP was lower in Group D as compared to Group P and the difference was statistically significant. CONCLUSION: Dexmedetomidine provided intraoperative haemodynamic stability. It attenuates the haemodynamic responses to laryngoscopy, intubation, at pin fixation and the emergence from anaesthesia.

Wiskott-Aldrich Syndrome Presenting with JMML-Like Blood Picture and Normal Sized Platelets.

Objective. The aim of this paper is to report the case of Wiskott-Aldrich syndrome (WAS) that presented with unusual laboratory features. Clinical Presentation and Intervention. Male neonate admitted with symptoms related to thrombocytopenia, whose initial diagnosis was considered as neonatal alloimmune thrombocytopenia and JMML (juvenile myelomonocytic leukemia) but subsequently diagnosis was confirmed as WAS. Conclusion. This case shows that a suspicion of WAS is warranted in the setting of neonatal thrombocytopenia with JMML-like blood picture and normal sized platelets.

Chorea as a rare manifestation of hyperglycaemia.

INTRODUCTION: We present a case of chorea presenting as a clinical manifestation of hyperglycaemia.The purpose of presenting this case is to highlight the fact that movement disorder may be the clinical presentation of hyperglycaemia and it reverts on treatment of hyperglycaemia. CASE PRESENTATION: A 66-year-old female known case of type 2 diabetes mellitus and on oral hypoglycaemic drugs presented with abnormal and involuntary movements of the whole body and face since 7 days and high plasma glucose (446 mg/dl) and without ketosis. On controlling the blood sugar, there has been significant decrease in choreiform movements within 48 hrs and complete resolution of involuntary movements found at discharge at 1 week. CONCLUSION: Movement disorder like chorea may be the clinical presentation of the hyperglycaemia which could completely recover on rapid detection and correction of hyperglycaemia.