Publications by authors named "M Franaszczyk"
Article Synopsis
- The TRPM3 gene is important for sensory perception and ion transport, and mutations here can cause neurological and developmental disorders.
- A specific mutation, c.2509G>A, results in a change in the protein that likely affects its function, leading to significant delays in motor skills and neurological issues in a pediatric patient.
- This case illustrates the variability in symptoms related to this mutation and highlights the importance of further research on treatments for TRPM3-related disorders.
Introduction: The knowledge about clinical features of Polish patients with hereditary type of transthyretin cardiac amyloidosis (hATTR-CA) is scant.
Objectives: Our aim was to present rare transthyretin (TTR) gene variants and diagnostic difficulties in patients with hATTR-CA.
Patients And Methods: In the years 2018-2024, 252 consecutive patients with suspected CA were evaluated, including blood tests, standard 12‑lead electrocardiography, transthoracic echocardiography and 99mtechnetium‑3,3‑diphosphono‑1,2‑propanodicarboxylic acid ([99mTc]Tc‑DPD) scintigraphy.
Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.
Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.
Titin truncating variants (tv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early indicators of cardiotitinopathy including the serum biomarkers high-sensitivity cardiac troponin T (hs-cTnT) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) in clinically stable patients, and 2) predictors of outcome among tv carriers.
View Article and Find Full Text PDFBackground: The genetic backgrounds of diabetic kidney disease (DKD) and end-stage kidney disease (ESKD) have not been fully elucidated.
Aim: To examine the individual and cumulative effects of single-nucleotide polymorphisms (SNPs) previously associated with DKD on the risk for ESKD of diabetic etiology and to determine if any associations observed were specific for DKD.
Methods: Fourteen SNPs were genotyped in hemodialyzed 136 patients with diabetic ESKD (DKD group) and 121 patients with non-diabetic ESKD (NDKD group).