👤 Taruna Khurana

Gender-associated variations in phenotypic expression and their consequences are established in numerous cardiac circumstances. However, their impact is questionable in the case of HCM. To investigate the demographic and clinical profiles of the HCM patients. Also, to compare the echocardiographic features according to the HCM subtypes in the study populace. The present study was conducted at the DMCH, Ludhiana, from March 2019 to May 2021, using a prospective observational and non-blinded design. The data regarding demographic and clinical profile are gathered for the specified duration. The clinical features are confirmed through the Echocardiography. The gathered data are analyzed through chi-square to determine the differences among the groups with the aid of the SPSS tool. The demographic profiles and clinical assessment of 103 patients are analyzed. The subjective assessment reveals that HCM is predominantly in males in a ratio of 2.1:1. Dyspnea is a chief complaint of both genders (77.67%). Apical type is prevalent in male HCM patients. MYBPC3 and MYH7 are the general mutations found in the genetic tests. SCD is found in patients possessing this type of genetic mutation. The non-obstructive type is more common than the obstructive type. HCM is a chronic disease and causes morbidity as well as mortality globally. HCM patients are vulnerable to SCD and stroke. These risk factors rely on the diagnosis associated with age, gender, obstruction, obesity, and coronary diseases. Hence, the present research on the demographic characteristics of HCM patients promotes awareness regarding the complications among the Indian populace. Show less

Bladder cancer, primarily urothelial carcinoma, is an important global health issue given its high recurrence and poor prognosis. Tumour invasion into the muscularis propria is a crucial prognostic indicator, distinguishing muscle-invasive bladder carcinoma (MIBC) from non-muscle-invasive carcinoma. Epithelial-mesenchymal transition (EMT) promotes tumour aggressiveness and metastasis and is marked by key transcription factors, such as SNAIL, SLUG and TWIST. This study investigates the association between the expression of EMT markers and histopathological features of bladder carcinoma. This retrospective study included 36 newly diagnosed cases of urothelial carcinoma at a tertiary care centre. Immunohistochemistry was conducted to assess SNAIL-SLUG and TWIST expression. Scoring was performed on the basis of staining intensity and extent. Statistical analysis was conducted to evaluate the associations amongst EMT markers, tumour grade, muscle invasion and clinical stage. MIBC was present in 58.3% of cases, with 80.6% of cases having high-grade tumours. TWIST expression was significantly higher in MIBC ( Elevated TWIST expression is correlated with high-grade and muscle-invasive urothelial carcinoma, suggesting its prognostic importance. Show less

T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) is usually diagnosed based on the presence of immature lymphoid marker terminal deoxynucleotidyl transferase (TdT), and T-cell specific markers, specifically CD3, by immunohistochemistry (IHC) staining on bone marrow and/or extramedullary tissue. We present a novel, TdT and CD3 negative, aggressive early T-cell precursor LBL (ETP-LBL) initially misdiagnosed as a high grade B-cell lymphoma due to expression of CD79a and the erroneous detection of BCL2/IGH fusion. The patient was eventually evaluated using molecular diagnostic techniques, including fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) assays that demonstrated PICALM-MLLT10 fusion and a NOTCH1 mutation in the absence of BCL2/IGH fusion. The use of NGS, specifically mate-pair sequencing (MPseq), subsequently confirmed an in-frame PICALM-MLLT10 fusion. Our retrospective analysis showed that PICALM-MLLT10 fusion has no association with CD3/TdT negativity, as 6/49 T-ALL/LBL cases from Mayo Clinic database (01/1998-09/2018), including this case, were noted to have PICALM-MLLT10 fusion; however, none of the other cases were associated with CD3/TdT negativity. We emphasize the importance of a comprehensive hematopathologic evaluation including multiple molecular studies for the appropriate interrogation and classification of a difficult acute leukemia diagnosis, and to prevent potential diagnostic errors of clinical significance. Show less

We have identified two LIM domain proteins, LimF and ChLim, from Dictyostelium that interact with each other and with the small, Rab5-related, Rab21 GTPase to collectively regulate phagocytosis. To investigate in vivo functions, we generated cell lines that lack or overexpress LimF and ChLim and strains that express activating or inhibiting variants of Rab21. Overexpression of LimF, loss of ChLim, or expression of constitutively active Rab21 increases the rate of phagocytosis above that of wild type. Conversely, loss of LimF, overexpression of ChLim, or expression of a dominant-negative Rab21 inhibits phagocytosis. Our studies using cells carrying multiple mutations in these genes further indicate that ChLim antagonizes the activating function of Rab21-GTP during phagocytosis; in turn, LimF is required for Rab21-GTP function. Finally, we demonstrate that ChLim and LimF localize to the phagocytic cup and phago-lysosomal vesicles. We suggest that LimF, ChLim, and activated Rab21-GTP participate as a novel signaling complex that regulates phagocytic activity. Show less