Prenatal Diagnosis of Maternal Serum from Mothers Carrying β-thalassemic Fetus

Background Current study focused on discovering protein biomarkers from the maternal serum of β-thalassemic trait mothers carrying the normal fetus and β-thalassemic major fetus. Method Serum samples from β-thalassemic trait mothers carrying major (N=5) and normal fetuses (N=5) were studied. IVS1-5 thalassemia mutation was common among β-thalassemic trait mothers who were carrying homozygous β-thalassemic fetus (IVS1-5/ IVS1-5 mutation) or normal fetus (no mutation). We employed two-dimensional gel electrophoresis and mass spectrometric analysis to explore differentially expressed maternal serum proteins from thalassemia carrier couples having the same β-thalassemia mutation. Western blotting was performed for one of the identified proteins to validate our data. Results Ten proteins were identified in maternal serum of β-thalassemic trait mothers carrying the β-thalassemic major fetus and normal fetus. Among these, Serotransferrin, Haptoglobin, Alpha-1 anti-trypsin (A1AT), Apo-lipoprotein A1, and Fibrinogen-beta chain were found to be up-regulated in mothers carrying major fetuses and are known to be associated with pregnancy-related disorders. The expression of A1AT was validated through western blotting. Conclusion Proteins identified in the current study from maternal serum are reported to contribute to hereditary disorders. We suggest that these can serve as putative screening markers for non-invasive prenatal diagnosis in β-thalassemic pregnancies

The association between CKD-associated pruritus and quality of life in patients undergoing hemodialysis presenting to nephrology division, Khyber teaching hospital Peshawar

Background and Aim: Chronic kidney disease-associated pruritus (CKD-aP), commonly known as uremic pruritus is a frequent and inconvenient disease for patients undergoing hemodialysis. The purpose of the present investigation was to determine the association of CKD-associated pruritus with quality of life in patients undergoing hemodialysis presented to the nephrology division of Khyber Teaching Hospital Peshawar. Patients and Methods: This cross-sectional study was conducted on 227 CKD-associated pruritus patients investigated in the Nephrology Division of Khyber Teaching Hospital Peshawar from March 2022 to February 2023. Patients of either gender (>18 years) undergoing hemodialysis were enrolled. Demographic details, dialysis duration, duration of disease, and various comorbidities conditions were recorded based on a pre-designed questionnaire. Results: Out of 227 patients, there were 142 (62.6%) male and 85 (37.4%) female. The overall mean age was 40.82±6.82 years. The incidence of CKD-associated pruritus was 68.7% (n=156). The presence of various comorbidities such as diabetes mellitus, hypertension, hyperlipidemia, and cardiovascular disease was found in 30 (13.2%), 124 (54.6%), 16 (7.0%), and 6 (2.6%) respectively. The overall mean duration of CKD and duration on hemodialysis was 34.4 [12.0–48.0] months and 22.8 [12.0–36.0] months respectively.&nbsp