Incorporation of cf-DNA, cff-DNA and sEng into the prenatal care service should be considered as a serious addition for the screening and detection of adverse pregnancy outcomes in view of their significant elevations in cases of preeclamptic women whose babies ultimately suffered a poor outcome.

Background Breast cancer (BC) is one of the most prevalent cancers in developing and developed countries among women worldwide. Mammography is one of the superior methods for BC detection, but it carries up to 20% false-negative results, especially in early cases. Histological examination of tissue biopsies and fine-needle aspiration cytology are invasive techniques. Hence, minimally invasive markers are needed for the improved detection of BC. microRNAs, small, noncoding, single-stranded RNAs functioning as tumor suppressor genes or oncogenes, are attractive biomarkers for early detection. This study aimed to examine the serum levels of miR21 and miR10b in patients with BC especially in the early stages compared to healthy controls to evaluate their potential use as BC biomarkers. Methods This study included 90 females who were divided into two groups. Group I included 70 patients with BC and was subdivided into group Ia with 40 nonmetastatic BC patients and group Ib with 30 metastatic BC patients. Group II included 20 apparently healthy females as a control group. Serum miR21 and miR10b as biomarkers and miR16 as a housekeeping gene were evaluated using real-time polymerase chain reaction. Results The median levels of miR10b and miR21 were statistically significantly upregulated in the sera of patients with BC compared to healthy controls (P = 0.001). Receiver operating characteristic curve analyses demonstrated that serum levels of miR10b and miR21 were useful biomarkers for distinguishing between patients with BC and the control group, with an area under the curve (AUC) of 0.991 with 97.1% sensitivity and 100% specificity at a cutoff of 3.1 for miR10b and an AUC of 0.965 with 95.7% sensitivity and 85% specificity at a cutoff of 1.7 for miR21. Regarding the early stages of BC, the median levels of the fold change of serum miR21 and miR10b were statistically significantly higher in patients with BC (stages I and IIa) than in the control group (P < 0.001). Conclusions Both miR21 and miR10b have valuable diagnostic roles in detecting the early stages of BC.

Oral hypoglycemics are a widely prescribed group of drugs for the management of type 2 diabetes mellitus. Sulfonylureas (SUs) are the cornerstone of type 2 diabetes pharmacotherapy. The enzyme cytochrome P450 2C9 (CYP2C9) is the main enzyme that catalyzes the biotransformation of SUs. It is encoded by the polymorphic gene CYP2C9 with two allelic variants namely CYP2C9*2 and CYP2C9*3 coding for variant allozymes with reportedly decreased metabolic capacity resulting in decreased SUs clearance and consequently prolonged and exacerbated action. The aim of this study was to investigate the influence of genetic polymorphisms of CYP2C9 on the response to glibenclamide, a second-generation sulfonylurea. Hundred type 2 diabetic patients were enrolled in the study. Genotyping was done on the LightCycler 2 by real-time polymerase chain reaction (PCR) hybridization probe assay. The results are the following: 53 patients were carriers of the wild genotype (CYP2C9*1/*1), 20 were heterozygous for the variant CYP2C9*2 allele (CYP2C9*1/*2), 18 were heterozygous for the variant CYP2C9*3 allele (CYP2C9*1/*3), and 9 were double heterozygous for both mutant alleles (CYP2C9*2/*3); of those double mutant genotype patients, two were also homozygous for the mutant CYP2C9*2 allele (CYP2C9*2/*2) and one patient was homozygous for the mutant CYP2C9*3 allele (CYP2C9*3/*3). Although there was no significant difference in drug dosage between the four groups, there was however a significant association of the CYP2C9*2/*3 genotype with better glycemic control. As conclusion, the better glycemic control observed can probably be attributed to slower metabolism of SUs by the carriers of the CYP2C9*2/*3 genotype and consequently longer half-life or exacerbated effect of the SUs administered.

Background: Paediatric cardiomyopathy is a progressive, often lethal disorder and the most common cause of heart failure in children. Despite its severe outcomes, the genetic aetiology is still poorly characterised. High-throughput sequencing offers a great opportunity for a better understanding of the genetic causes of cardiomyopathy. Aim: The current study aimed to elucidate the genetic background of cardiomyopathy in Egyptian children. Methods: This hospital-based study involved 68 patients; 58 idiopathic primary dilated cardiomyopathy and 10 left ventricular noncompaction cardiomyopathy. Cardiomyopathy-associated genes were investigated using targeted next-generation sequencing. Results: Consanguinity was positive in 53 and 70% of dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy patients, respectively. Positive family history of cardiomyopathy was present in 28% of dilated cardiomyopathy and 10% of the left ventricular noncompaction cardiomyopathy patients. In 25 patients, 29 rare variants were detected; 2 likely pathogenic variants in TNNI3 and TTN and 27 variants of uncertain significance explaining 2.9% of patients. Conclusions: The low genetic detection rate suggests that novel genes or variants might underlie paediatric cardiomyopathy in Egypt, especially with the high burden of consanguinity. Being the first national and regional report, our study could be a reference for future genetic testing in Egyptian cardiomyopathy children. Genome-wide tests (whole exome/genome sequencing) might be more suitable than the targeted sequencing to investigate the primary cardiomyopathy patients. Molecular characterisation of cardiomyopathies in different ethnicities will allow for global comparative studies that could result in understanding the pathophysiology and heterogeneity of cardiomyopathies.

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