Sequencing of Chromosomal Locus 6q25.1 Revealed Two Significant SNPs rs2046210 and rs2046211 Associated with Breast Cancer: A Case-Control Study in Egyptian Women.

Background: Breast cancer (BC) is one of the major health problems affecting females in Egypt. Certain chromosomal loci abnormalities were proved to be associated with BC in different populations. One of them is chromosomal locus 6q25.

Pseudouridylation defect due to and mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in , , or cause dyskeratosis congenita (DC), a disorder characterized by telomere attrition.

Mutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism.

Context: Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome).

Case Description: This report describes a 12-year-old boy with short stature, visual impairment, and developmental delay who presented with macroscopic hematuria and albuminuria. He had isolated growth hormone deficiency, optic nerve hypoplasia, and a small anterior pituitary with corpus callosum dysgenesis on his cranial magnetic resonance imaging, thereby supporting a diagnosis of optic nerve hypoplasia syndrome.

Role of the von Willebrand factor and the VITRO score as predictors for variceal bleeding in patients with hepatitis C-related cirrhosis.

Background: Noninvasive methods have been established to detect clinically significant portal hypertension in liver cirrhosis with variable limitations. The von Willebrand factor (vEF) has been found to increase in liver cirrhosis.

Aim: The aim of this study was to explore the vEF and VITRO (von Willebrand factor antigen/platelet ratio) score in the prediction of variceal bleeding in patients with portal hypertension.

Cardiac matrix remodelling in congestive heart failure: the role of matrix metalloproteinases.

Background: Congestive heart failure (CHF), the most frequent reason for hospital admission of elderly patients, is an important and rapidly increasing cause of morbidity and mortality worldwide. Its development is accompanied by left-ventricle (LV) dilatation and pump dysfunction. The extracellular space in the heart is now recognized as an essential element of myocardial structure and function, and a dynamic participant in remodelling.