Prothrombin G20210A Mutation is Rare but not Absent Among North Indian Patients with Thromboembolic Events.

Unlabelled: Traditionally considered to be absent in India, prothrombin gene G20210A (NM_000506.5(F2): c.*97G > A) mutation (PGM) has recently been reported in few Indian patients.

Coexistence of BCR∷ABL1 translocation and JAK2V617F mutations in indian patients with myeloproliferative neoplasms: A case series.

BCR∷ABL1 translocation and JAK2V617F mutations are canonical variants of myeloproliferative neoplasms (MPNs). Traditionally considered mutually exclusive, they may rarely coexist. We report the clinicopathological profile and treatment outcomes of four MPN patients with coexistence of these disease-defining genetic variants.

Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.

Introduction: Various risk factors for inhibitor development in haemophilia A (HA) have been described but Indian data remains scanty.

Aim: We aimed to evaluate the genetic changes in Indian HA-patients that are associated with the development of inhibitors.

Methods: All HA-patients with inhibitors who availed coagulation-laboratory services from January-2015 till December-2021 and had their samples preserved for DNA extraction were included in this study.

Impact of ABO blood group antigens on residual factor VIII levels and risk of inhibitor development in hemophilia A.

Background: The clinical phenotype of hemophilia A (HA) does not always correlate with severity. Similarly, the presence of inhibitors does not necessarily increase the risk of bleeding. This paradox between clinical and laboratory findings may be partially attributed to non-modifiable factors, such as blood group, which is known to influence FVIII levels in healthy individuals.

Tumor infiltrating lymphocytes profile and response in neoadjuvant chemotherapy-treated triple-negative breast carcinoma patients.

Background: Triple negative breast carcinoma (TNBC) has the highest mortality among all the breast carcinoma subtypes, but paradoxically, it shows the best response to neoadjuvant chemotherapy (NACT). Tumor infiltrating lymphocytes (TIL) density has been shown to have prognostic significance in TNBC. However, there are limited data on TIL subpopulation and their association with response to NACT in TNBC.

Inhibitor; An Uncommon But Vexing Challenge In North Indian Patients With Hemophilia A.

Factor VIII replacement is the mainstay of treatment in hemophilia A but may lead to the development of inhibitors. While a vexing clinical problem, some observations suggest that the presence of inhibitors may not necessarily portend a higher bleeding risk. Our aim was to assess the prevalence and clinicopathological correlates of inhibitors in a well characterized cohort of Indian patients with HA patients.

A case of amoebic liver abscess complicated by bilhaemia and venous thrombosis.

Amoebic liver abscess is the most common extra-intestinal manifestation of amoebiasis. It usually responds well to treatment with metronidazole together with drainage, if indicated. Uncommonly, the abscess may rupture into the pleura, peritoneum or pericardium, bile duct at its hilum, or produce septic emboli.

Hepatic osteodystrophy and fracture risk prediction using FRAX tool in Indian patients with cirrhosis.

Background And Aim: The main clinical relevance of hepatic osteodystrophy is the increased risk of fractures. Dual-energy X ray absorptiometry (DEXA)-based assessment of bone mineral density, the current gold standard for diagnosing osteoporosis, is not the sole determinant of fracture risk. Other clinical risk factors also play an important role.