👤 Sara Amer

Familial Hypercholesterolemia (FH) is a major risk factor for premature Coronary Artery Disease (CAD). Genetic testing is the gold standard for FH diagnosis. The purpose of this Observational Analytical Cross-sectional study was to estimate the proportion of genetically confirmed Familial Hypercholesterolemia in Patients with premature Coronary Artery Disease in a cohort of Egyptian patients. Next generation sequencing (NGS) was conducted for 7 genes (LDLR, PCSK9, APOB, APOE, ABCG5, ABCG8 and LDLRAP1) commonly associated with FH in 94 patients with Premature CAD from 2 tertiary hospitals in Cairo and Alexandria, Egypt. Individuals were clinically assessed using the Dutch Lipid Network criteria and genetically-confirmed FH prevalence was analyzed. Fourteen patients had pathogenic or likely pathogenic mutations in LDLR, APOB, PCSK9 and LDLRAP1 genes. Three patients had homozygous autosomal dominant FH and another 3 patients had autosomal recessive hypercholesterolemia. In addition, 10 patients had rare variants of uncertain significance in LDLR, APOB, APOE, ABCG5 and ABCG8 genes. The prevalence of genetically confirmed FH in premature CAD (PCAD) patients in this study was found to be 14.89%. The Dutch Lipid Clinic Network (DLCN) scoring system is suggested as a good screening tool for familial hypercholesterolemia but confirmatory genetic testing is essential for the accurate diagnosis and management of the patients. In Egypt, the high rate of consanguinity contributes to the high prevalence of both homozygous autosomal dominant and recessive FH. Show less

CFTR modulator therapies have positive clinical outcomes, yet chronic inflammation and bacterial infections persist in people with CF (pwCF). How elexacaftor-tezacaftor-ivacaftor (ETI) fails to improve innate immune signaling responsible for bacterial clearance and inflammation resolution remains unknown. We used an unbiased proteomics approach to measure the effect of ETI on inflammatory proteins. Plasma from 20 pediatric pwCF and 20 non-CF (NCF) was collected during routine examination and 3 months after ETI initiation. Protein screening was performed with an inflammation panel (Target 96, Olink There were significantly fewer pulmonary exacerbations after ETI initiation, along with sustained improvement in lung function and reduced bacterial colonization. Unpaired analysis of CF pre-ETI and NCF resulted in 34 significantly different proteins. Of these, CCL20, MMP-10, EN-RAGE, and AXIN1 had a log This study showed that ETI in a pediatric cohort had a modest effect on several inflammatory proteins with potential as biomarkers. Pathways significantly impacted by ETI can be further studied for future therapies to combat persistent inflammation and dysregulated immunity. Show less

Idiopathic hypereosinophilic syndrome (iHES) is a rare hematologic condition characterized by persistent, unexplained eosinophilia and organ involvement. Its diagnosis is challenging due to overlapping features with other eosinophilic and inflammatory gastrointestinal disorders. We report a case of a 44-year-old male with a history of asthma who presented with chronic epigastric pain, rectal bleeding, and significant weight loss. Initial investigations, including elevated CRP and fecal calprotectin, suggested inflammatory bowel disease, and treatment was initiated accordingly. However, symptoms persisted, and further evaluations revealed marked eosinophilic infiltration in gastric and colonic biopsies, raising suspicion for eosinophilic gastroenteritis. Repeat endoscopy showed giant gastric folds with significant eosinophilic infiltration (>120 eosinophils/HPF). Imaging demonstrated gastrointestinal wall thickening, biliary involvement, and incidental pulmonary nodules. Bone marrow biopsy revealed preserved trilineage hematopoiesis with prominent eosinophilia. Infectious, autoimmune, allergic, and neoplastic causes were systematically excluded. Cytogenetic testing was negative for PDGFRA, PDGFRB, and FGFR1 mutations, ruling out clonal eosinophilic disorders. Based on persistent peripheral eosinophilia, histologic evidence of tissue infiltration, and exclusion of secondary or clonal causes, a diagnosis of iHES was established in accordance with WHO 2024 criteria. The patient started on systemic corticosteroids, achieving partial symptom relief. Due to relapse during steroid tapering, azathioprine was added as a steroid-sparing agent. Ongoing monitoring was planned with consideration of biologic therapy for future relapses. This case illustrates the diagnostic complexity of iHES presenting with gastrointestinal involvement mimicking inflammatory bowel disease. It highlights the importance of a structured diagnostic approach, including repeated tissue evaluation and hematologic assessment, in differentiating iHES from other eosinophilic and inflammatory disorders. Show less

Triple-negative breast cancer (TNBC) lacks estrogen, progesterone, and human epidermal growth factor receptors and has a poor prognosis as it is resistant to chemotherapy. A new treatment option for this type of cancer may be by putting these malignant cells into dormancy. The oocyte's embryonic milieu presents a unique tumor reversion microenvironment by inducing growth arrest and changing cells' phenotypes. We conducted an in-silico study to determine the most likely oocyte extract (OE) proteins involved in inducing dormancy using HDock, CluPro, and molecular dynamic (MD) simulation. Results showed low energy scores for complexes between OE proteins and four surface markers: K1C14, CLD3, CLD4, and ITA6. Apolipoprotein A1 (APOA1) and Apolipoprotein C3 (APOC3) showed the highest stability and affinity with these four surface markers: K1C14, CLD3, CLD4, and ITA6. These proteins are involved in key tumor-related pathways such as angiogenesis, proliferation, apoptosis, and migration. This will pave the way for exploring novel therapeutic options to induce dormancy in TNBC cells. Show less

Variation in facial hair is one of the most conspicuous features of facial appearance, particularly in South Asia and Middle East countries. A genome-wide association study in Latin Americans has identified multiple genetic variants at distinct loci being associated with facial hair traits including eyebrow thickness, beard thickness, and monobrow. In this pilot study, we have evaluated 16 SNPs associated with facial hair traits in 58 male individuals from the Punjabi population of Pakistan. In our sample, rs365060 in EDAR and rs12597422 in FTO showed significant association with monobrow, rs6684877 in MACF1 showed significant association with eyebrow thickness, and two SNPs in LOC105379031 (rs9654415 and rs7702331) showed significant association with beard thickness. Our results also suggest that genetic association may vary between ethnic groups and geographic regions. Although more data are needed to validate our results, our findings are of value in forensic molecular photofitting research in Pakistan. Show less

Diabetes mellitus is a burdensome disease that affects various cellular functions through altered glucose metabolism. Several reports have linked diabetes to cancer development; however, the exact molecular mechanism of how diabetes-related traits contribute to cancer progression is not fully understood. The current study aimed to explore the molecular mechanism underlying the potential effect of hyperglycemia combined with hyperinsulinemia on the progression of breast cancer cells. To this end, gene dysregulation induced by the exposure of MCF7 breast cancer cells to hyperglycemia (HG), or a combination of hyperglycemia and hyperinsulinemia (HGI), was analyzed using a microarray gene expression assay. Hyperglycemia combined with hyperinsulinemia induced differential expression of 45 genes (greater than or equal to two-fold), which were not shared by other treatments. On the other hand, in silico analysis performed using a publicly available dataset (GEO: GSE150586) revealed differential upregulation of 15 genes in the breast tumor tissues of diabetic patients with breast cancer when compared with breast cancer patients with no diabetes. Show less

Information on the relationship between circulating cholesteryl ester transfer protein (CETP) levels and coronary heart disease (CHD) incidence (and also, therefore, acute coronary syndrome [ACS]) is conflicting. Many studies have been published concerning this relationship, most of which have incompatible results. In our study, we aimed to determine serum CETP levels in subject individuals with ACS and healthy control individuals, and the association of those levels with Taq IB polymorphism. The current study was conducted with 62 hospitalized patients who had been diagnosed with ACS and 26 controls. All subjects were selected from a previous study of which we are among the coauthors. Serum CETP levels were determined by quantitative enzyme-linked immunosorbent assay (ELISA). The mean serum CETP levels in all patients were significantly higher than those in controls. CETP TaqIB polymorphism affected serum CETP levels, with higher serum CETP for the GA genotype in both groups than in other genotypes. Although the AA genotype showed higher CETP levels than the GG genotype in patients with ACS, the GG showed higher CETP than the AA in healthy controls. Our results support an association between high serum CETP and ACS incidence. Our study helped address some of the controversies regarding the relationship of serum CETP mass to atherosclerosis, in addition to the association of ACS occurrence with circulating CETP levels. Show less

The association between cholesterol ester transfer protein (CETP) Taq IB polymorphism and coronary artery disease (CAD) has been studied in different populations. Acute coronary syndrome (ACS) is a group of clinical symptoms within acute myocardial ischemia, including unstable angina (UA) and myocardial infarction (MI). Because there are no data reported in the literature concerning the cholesteryl ester transfer protein (CETP) Taq IB polymorphism in Egyptians, our study aimed to investigate the frequency of different CETP Taq IB genotypes in Egyptian patients with ACS and in healthy control individuals. The current study was conducted with 70 hospitalized patients who had been diagnosed with ACS and 30 controls. We used real-time polymerase chain reaction (RT-PCR) to determine CETP Taq IB in individuals with different genotypes. The frequency of the GA genotype was significantly lower in UA patients, compared with the control group ( P  <.05). The frequency of the CETP Taq IB genotypes and alleles in all groups was similar to that in other ethnic groups. Individuals with the Taq IB GA genotype may have a lower risk of UA. Show less