Metagenomic analysis of fecal samples in colorectal cancer Egyptians patients post colectomy: A pilot study.

One of the most prevalent malignancies that significantly affects world health is colorectal cancer (CRC). While genetics are involved in a portion of CRC patients, most cases are sporadic. The microbiome composition could be a new source of tumor initiation and progression. This research was conducted to investigate the microbiota composition of CRC patients post colectomy at taxonomic and functional levels. Using a next-generation sequencing approach, using an Illumina Novaseq 6000, the fecal samples of 13 patients were analyzed and the obtained data was subjected to a bioinformatics analysis. The bacterial abundance and uniqueness varied in CRC patients alongside differences in bacterial counts between patients. Bacteroides fragilis, Bacteroides vulgatus, Escherichia coli, and Fusobacterium nucleatum were among the pro-cancerous microorganisms found. Concurrently, bacteria linked to CRC progression were detected that have been previously linked to metastasis and recurrence. At the same time, probiotic bacteria such as Bifidobacterium dentium, Bifidobacterium bifidum, and Akkermansia muciniphila increased in abundance after colectomies. Additionally, numerous pathways were deferentially enriched in CRC, which emerged from functional pathways based on bacterial shotgun data. CRC-specific microbiome signatures include an altered bacterial composition. Our research showed that microbial biomarkers could be more usefully employed to explore the link between gut microbiota and CRC using metagenomic techniques in the diagnosis, prognosis, and remission of CRC, thereby opening new avenues for CRC treatment.

Association of the interleukine-6 polymorphism with catheter-induced coronary artery spasm in Egyptians.

BACKGROUND: The role of coronary artery spasm (CAS) was extended beyond variant angina to ischemic heart disease in general, including effort angina, unstable angina, acute myocardial infarction (MI) and sudden death. It is difficult and cumbersome to examine CAS during coronary angiography. Risk factors for CAS include smoking and genetic polymorphisms. AIM: We aimed to investigate the association of the interleukin-6 (IL-6) polymorphism with catheter-induced CAS in Egyptian patients who undergo coronary angiography. METHODS: This is a case-control study. Two hundred patients with chronic coronary artery disease who underwent elective coronary angiography were included in the study. Patients were divided into two groups: the non-CAS group (100 patients) and the CAS group (100 patients). The subjects were genotyped to the -572 C>G (rs 1800796) polymorphism of the IL-6 gene by PCR-restriction fragment length polymorphism. RESULTS: We found that patients with CAS have more risk factors for atherosclerosis compared to those without CAS. Smoking, the IL-6 GG genotype, and the G allele were independent risk factors for CAS. CONCLUSION: We concluded that the GG genotype and G allele of the IL-6 gene are associated with CAS. Smoking, the GG genotype, and the G allele of the IL-6 gene are independent predictors of catheter-induced CAS.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Several neurological disorders, neurodevelopmental disorders, and neurodegenerative disorders have a genetic element with various clinical presentations ranging from mild to severe presentation. Neurological disorders are rare multifactorial disorders characterized by dysfunction and degeneration of synapses, neurons, and glial cells which are essential for movement, coordination, muscle strength, sensation, and cognition. The cerebellum might be involved at any time, either during development and maturation or later in life. Herein, we describe a spectrum of NDDs and NDs in seven patients from six Egyptian families. The core clinical and radiological features of our patients included dysmorphic features, neurodevelopmental delay or regression, gait abnormalities, skeletal deformities, visual impairment, seizures, and cerebellar atrophy. Previously unreported clinical phenotypic findings were recorded. Whole-exome sequencing (WES) was performed followed by an in silico analysis of the detected genetic variants' effect on the protein structure. Three novel variants were identified in three genes MFSD8, AGTPBP1, and APTX, and other previously reported three variants have been detected in "TPP1, AGTPBP1, and PCDHGC4" genes. In this cohort, we described the detailed unique phenotypic characteristics given the identified genetic profile in patients with neurological "neurodevelopmental disorders and neurodegenerative disorders" disorders associated with cerebellar atrophy, hence expanding the mutational spectrum of such disorders.

Association of Endothelial Nitric Oxide Synthase and Angiotensin-Converting Enzyme Genes Polymorphism With In-Sent Restenosis of Bare Metal Stents vs Drug-Eluting Stents in Egyptians.

Despite its unequivocal superiority compared with balloon angioplasty, coronary stenting did not abolish restenosis. We aimed to evaluate the associations between a common single nucleotide polymorphism occurring in endothelial nitric oxide synthase (eNOS) and angiotensin-converting enzyme (ACE) genes and the risk of in-stent restenosis (ISR) of bare metal stents vs drug-eluting stents (BMS vs DES) implanted in Egyptian patients. Two hundred patients who had coronary stenting were divided into group I (n = 98) who received a BMS and group II (n = 102) who received a DES. eNOS and ACE genes polymorphism were analyzed by polymerase chain reaction (PCR). We found that the GA and AA genotypes of the eNOS gene were associated with the ISR with both BMS and DES. However, the ACE gene was not associated with ISR. We concluded that eNOS gene polymorphism is associated with ISR. Hypertension, stent length, and AA genotype of the eNOS gene were found to be independent predictors of the occurrence of ISR after both BMS and DES use.

Multi-omics analysis of fecal samples in colorectal cancer Egyptians patients: a pilot study.

BACKGROUND: Colorectal cancer (CRC) is a public health concern and the second most common disease worldwide. This is due to genetic coding and is influenced by environmental aspects, in which the gut microbiota plays a significant role. The purpose of this study was to compare the microbiota makeup of CRC patients with that of healthy control and to identify upregulated and downregulated proteins and metabolites in CRC patients. Using a next-generation sequencing approach, fecal samples of five females (4 CRC patients and one healthy control) were analyzed by BGI DNBSEQ-T7, Hong Kong, China. Furthermore, proteomics and metabolomics analysis were performed using LC-MS/MS technique. RESULTS: Dysbiosis of gut microbiota has been observed in patients with CRC, with an increase in microbiota diversity at all taxonomic levels relative to healthy control. Where, at the functional level the bacterial species participate in many different pathways among them de novo nucleotide synthesis and amino acids pathways were aberrantly upregulated in CRC patients. Proteomics and metabolomics profiles of CRC patients showed different proteins and metabolites, a total of 360 and 158 proteins and metabolites, respectively were highly expressed compared to healthy control with fold change ≥ 1.2. Among the highly expressed proteins were transketolase, sushi domain-containing protein, sulfide quinone oxidoreductase protein, AAA family ATPase protein, carbonic anhydrase, IgG Fc-binding protein, nucleoside diphosphate kinase protein, arylsulfatase, alkaline phosphatase protein, phosphoglycerate kinase, protein kinase domain-containing protein, non-specific serine/threonine protein kinase, Acyl-CoA synthetase and EF-hand domain-containing protein. Some of the differential metabolites, Taurine, Taurocholic acid, 7-ketodeoxycholic acid, Glycochenodeoxycholic acid, Glycocholic acid, and Taurochenodeoxycholic acid that belong to bile acids metabolites. CONCLUSIONS: Some bacterial species, proteins, and metabolites could be used as diagnostic biomarkers for CRC. Our study paves an insight into using multi-omics technology to address the relationship between gut microbiota and CRC.

Effect of N-Acetylcysteine on initial Carious Enamel Lesions in primary teeth: an In-vitro study.

BACKGROUND: Dental caries initiates with non-cavitated enamel lesions as the first stage. The cariogenic potential of N-Acetylcysteine (NAC) may be due to its usage frequency and form. This study aimed to evaluate the impact of exposure time of NAC on initial enamel caries-like lesions in primary teeth by assessing the morphological alteration using a scanning electron microscope (SEM) and mineral content using energy dispersive x-ray spectroscopy (EDX). METHODS: Forty primary incisor teeth were randomly divided into 4 groups S, S1, S2, and S3 (10 specimens/group). Teeth crowns were cut from their roots and inserted into an acrylic mold with its buccal surface directed upward. Centrally isolated enamel window (2 × 2 mm) on the tooth was done. Ten specimens were selected to evaluate normal enamel while the remaining thirty specimens were immersed in demineralizing solution for 96 h to produce enamel caries-like lesions. PH cycling was performed by immersing each tooth sample in 20 mL of demineralizing solution for 3 h then, preserved for the remaining day hours in 10 ml of artificial saliva interspersed with treatments applications with 10 ml NAC for 10 min twice a day for one- or three-months different treatment modalities. Thermocycling was done for all specimens then they were subjected to SEM and EDX analysis. ANOVA and Bonferroni post hoc tests were utilized in data analysis. RESULTS: In teeth treated by NAC for 3 months (group-S3), SEM images showed severe loss of enamel architecture with large NAC deposits detected. A meaningful difference was observed among different groups concerning calcium, phosphorus, fluoride, ca/P ratio, carbon, nitrogen, and oxygen contents (P < 0.05). CONCLUSION: NAC had a detrimental impact on enamel caries-like lesions in human primary teeth.

Association of endothelial nitric oxide synthase (Glu298Asp) gene polymorphism with radial artery spasm during cardiac catheterization in Egyptians.

BACKGROUND: Nitric oxide (NO) exerts diverse effects on the cardiovascular system. Impairment of NO production plays a key role in cerebral and coronary artery spasm. We aimed to explore the predicting factors of radial artery spasm (RAS) and the association of eNOS gene polymorphism (Glu298Asp) with RAS during cardiac catheterization. METHODS AND RESULTS: 200 patients underwent elective coronary angiography through a trans-radial approach. The subjects were genotyped to the Glu298Asp polymorphism (rs1799983) on the eNOS gene by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Our results showed that the subjects with the TT genotype and T allele were significantly more likely to develop radial artery spasms (OR = 12.5, 4.6, P < 0.001 respectively). TT genotype of eNOS Glu298Asp polymorphism, number of punctures, size of the radial sheath, radial tortuosity, and right radial access are independent predictors of radial spasm. CONCLUSION: The eNOS (Glu298Asp) gene polymorphism is associated with RAS during cardiac catheterization in Egyptians. TT genotype of eNOS Glu298Asp polymorphism, number of punctures, size of the radial sheath, right radial access, and tortuosity are independent predictors of RAS during cardiac catheterization.

Single-nucleotide polymorphism of ADRß2 and CDKN1B genes in Egyptian patients with coronary artery in-stent restenosis.

BACKGROUND: In-stent restenosis is a common complication after percutaneous coronary intervention. The purpose of the current study is to look for associations of genetic variation in adrenergic beta-2 receptor (ADRß2), and cyclin-dependent kinase inhibitor 1B (CDKN1B) genes in patients diagnosed with in-stent restenosis (ISR) after percutaneous coronary intervention in the Egyptians. METHODS: Polymorphisms in ADRß2 and CDKN1B were determined using PCR-restriction fragment length polymorphism in 200 Egyptian patients who underwent coronary angioplasty and stent placement of whom 100 patients developed ISR. RESULTS: We found that the GG genotype of ADRß2 and CC genotype of CDKN1B were more likely to develop restenosis after stenting (odds ratio = 3.7 and 3.2; P = 0.001, respectively). Our study considered that male sex, diabetes, obesity, bare-metal stents type of implanted stents, longer stents, GG genotype of ADRß2, and CC genotype of CDK1B were significant independent predictors for ISR. CONCLUSION: our results indicate that ADRß2 (rs1042713) and CDKN1B (rs36228499) could be associated with the development of ISR in Egyptians.

Production and Characterization of Bacterial Ghost Vaccine against Neisseria meningitidis.

Bacterial ghosts (BGS) are empty non-living envelopes produced either genetically or chemically. This study investigated a novel chemical protocol for the production of Neisseria meningitidis ghost vaccine using tween 80 followed by a pH reduction with lactic acid. For our vaccine candidate, both safety and immunogenicity aspects were evaluated. The ghost pellets showed no sign of growth upon cultivation. BGS were visualized by scanning electron microscopy, illustrating the formation of trans-membrane tunnels with maintained cell morphology. Gel electrophoresis showed no distinctive bands of the cytoplasmic proteins and DNA, assuring the formation of ghost cells. In animal model, humoral immune response significantly increased when compared to commercial vaccine (p < 0.01). Moreover, serum bactericidal assay (SBA) recorded 94.67% inhibition compared to 64% only for the commercial vaccine after three vaccination doses. In conclusion, this is the first N. meningitidis ghost vaccine candidate, proven to be effective, economic, and with significant humoral response and efficient SBA values; however, clinical studies should be performed.

Associations between mental health problems and risky oral and sexual behaviour in adolescents in a sub-urban community in Southwest Nigeria.

BACKGROUND: This study determined the association between mental health and risky oral health and sexual health behaviours. METHODS: A household cross-sectional survey was conducted in Ile-Ife, Nigeria between December 2019 and January 2020. Data were collected from 10 to 19-year-old on the sociodemographic profile (age, sex at birth and socioeconomic status); mental health problems (psychological distress, depressive symptoms and suicidal ideation); and mental (smoking habit, consumption of alcohol, use of psychoactive substances), sexual (history of vaginal or anal sexual intercourse; transactional sex, multiple sex partners, use of condom at last sexual intercourse) and oral (frequency of daily tooth brushing, daily frequency of consumption of refined carbohydrate in-between-meals, frequency of use of dental floss, history of dental service utilization in the last 12 months and dental anxiety) health risk factors. Binary logistic regression analysis was conducted to determine the association between risky oral (neglecting to brush twice daily and frequent consumption of refined carbohydrates in-between-meals), and sexual (neglecting to use condoms during the last sex act and having multiple sex partners) health behaviours as outcome variables, and mental health status as the explanatory variables. An ordinal logistic regression model was also developed where the outcome variable was the number of risky health behaviours. The models were adjusted for the socio-demographic variables and history of dental service utilisation in the last 12 months of the survey. RESULTS: High psychological distress was significantly associated with lower odds of frequent consumption of refined carbohydrates in-between-meals (AOR = 0.32; 95%CI 0.23, 0.47), and having multiple sex partners (AOR = 0.10; 95%CI 0.02, 0.57); but higher odds of having a higher number of risky behaviours (AOR = 3.04; 95%CI 2.13, 4.33). Having depressive symptoms was significantly associated with higher odds of neglecting to use condom at the last sexual intercourse (AOR = 7.20; 95%CI 1.94, 26.76) and having multiple partners (AOR = 95.43; 95%CI 24.55, 370.90). Suicidal ideation was significantly associated with lower odds of neglecting to use condom at the last sexual intercourse (AOR = 0.00; 95%CI 0.00, 0.00) and having multiple sex partners (AOR = 0.00; 95%CI 0.00, 0.00). CONCLUSION: The associations between psychological distress and oral and sexual health risk behaviours in adolescents seem complex and need to be studied further.

Thermal Effects on DNA Degradation in Blood and Seminal Stains: Forensic View.

Forensic investigations using DNA analysis have been grown rapidly. Samples retrieved from crime scene may be exposed to different conditions before proceeding. This study aimed to evaluate the effect of different grades of temperature and burn on DNA extraction and typing. METHODS: Seven mL of blood and four mL of semen were collected from each volunteer. Effects of temperature grades (100 °C, 50 °C, 37 °C, 4 °C, -20 °C, and burn) on blood and seminal stain were tested. RESULTS: Bloodstains exposed to temperature grades 100 °C, 50 °C, 37 °C, 4 °C, and -20 °C can be identified using preliminary test while burnt blood stain cannot. Seminal stains exposed to temperature grades 37 °C, 4 °C, and -20 °C can be identified by Florence test while those exposed to 100 °C, 50 °C, and burn cannot. Blood and seminal stains exposed to temperature grades 100 °C, 50 °C, and burn show marked reduction in DNA concentration while maximum DNA conc could be recovered from stains exposed to temperature grade temperature. Both blood and seminal DNA was affected only in case of burn without significant difference between THO1 and Amelogenin primers. CONCLUSION: High environmental temperature affect the quantity of extracted DNA from different stains but less effect on the quality of extracted DNA. Burn affects both preliminary test, DNA quantity, and quality in stains.

Visual disability among patients attending glaucoma clinic in a tertiary hospital.

PURPOSE: To report visual impairment and blindness among the patients attending a glaucoma clinic in a tertiary university hospital and highlight the possible risk factors that could be addressed later. METHODS: A retrospective analysis of the medical records of the patients attending the glaucoma clinic in Ain Shams University Hospitals over a period of one year was conducted. Visual impairment classification was done according to the International Classification of Diseases and Related Health Problems (ICD-11) based on the best-corrected visual acuity in the better-seeing eye. Data including diagnosis, history of previous surgery, and duration of glaucoma were extracted and analyzed. RESULTS: The medical records of the first visit of 118 patients (58 males and 60 females) were included in this study. Secondary glaucoma was the most common type presented (38 patients, 32.2%), followed by primary open-angle glaucoma (35 patients, 29.6%). Sixty-seven patients (56.7%) were considered visually impaired, while seven patients (5.9%) were considered blind. Forty-one patients (34.7%) were considered mono-ocular blind. CONCLUSION: There is a high incidence of visual impairment and blindness among glaucoma patients presented to the glaucoma clinic in the  tertiary hospital. A further nation-wide study and possibly, an early surveillance program for glaucoma are needed.

The effects of ursodeoxycholic acid on sepsis-induced cholestasis management in an animal model.

OBJECTIVES: Cholestasis refers to a reduction in bile flow from the liver into the biliary system. Ursodeoxycholic acid (UDCA) is commonly used for the treatment of hepatic cholestasis. This study aimed to explore the role of UDCA in the treatment and prevention of lipopolysaccharide (LPS)-induced cholestasis. METHODS: Sixty male albino rats were randomly classified into five groups of 12 rats each: the control group (received saline and water), UDCA group (received UDCA), LPS group (received LPS), treatment group (received LPS followed by UDCA), and prevention group (received UDCA followed by LPS). Changes in gamma-glutamyl transferase (GGT), plasma aspartate transferase (AST), plasma alkaline transferase (ALT), plasma alkaline phosphatase (ALP), total bilirubin (TBIL), hepatocyte apoptosis, immunomodulatory activity, plasma pro-inflammatory cytokines (TNF-α, IL-1α, and IL-4), and liver histology were assessed. RESULTS: UDCA improved serum liver chemical markers (GGT, ALP, and AST) in both the prevention and treatment groups (p < 0.05 and p < 0.05, respectively). CD3 count was higher in the UDCA treatment group compared to the LPS group (p < 0.001). UDCA caused a reduction in plasma TNF-α in the prevention group (P < 0.05); however, it had no effect on the treatment group, as compared to the LPS group. Similarly, UDCA had no effect on IL-1α or IL-4. UDCA treatment resulted in improved liver histological features and a significant reduction in liver tissue apoptosis in both the treatment and prevention groups, as compared to the LPS group (p = 0.013 and p = 0.002, respectively). CONCLUSIONS: This study provides evidence of the effectiveness of UDCA for the treatment and prevention of sepsis-induced cholestasis.

DNA Gyrase and Topoisomerase IV Mutations and their effect on Quinolones Resistant Proteus mirabilis among UTIs Patients.

OBJECTIVE: This study aimed to highlight the importance of mutations within Proteus mirabilis genome that are related to fluoroquinolone resistance. METHODS: This is a cross sectional study performed in different teaching hospitals in Khartoum State from June 2016 to May 2017. A total of (120) P mirabilis isolates from patients with symptoms of UTIs attending different hospitals in Khartoum State were examined. First, modified Kurby Bauer method was performed for phenotypical detection of resistant isolates. Then polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) followed by sequencing were applied for detection of mutations in GyrA, GyrB, ParC and ParE genes of isolates. RESULTS: P. mirabilis showed 30% resistance to ciprofloxacin. All samples revealed mutation at (serine 83) of GyrA and (serine 84) of ParC by Hinf1 restriction endonuclease digestion. Sequencing was performed for 12 samples. For each gene, two resistant and one susceptible strains were randomly selected. The mutations associated with ciprofloxacin resistant P. mirabilis were as follows; (1/3) GyrA (Ser 83 to Ile) and (2/3) ParC (Ser 81 to Ile). Also it revealed silent mutations at codons of GyrB 474 leucine (3/3), 585 valine (2/3), 612 histidine (1/3) and 639 asparagine (1/3) and ParE 469 isoleucine (2/3), 531 aspartic (2/3) and 533 glycine (1/3). CONCLUSIONS: Ciprofloxacin resistance in P. mirabilis could be monitored through detection of mutations within DNA gyrase (encoded by gyrA and gyrB) and topoisomerase IV (encoded by parC and parE).

Development and preliminary validation of the Adolescent Psoriasis Quality of Life instrument: a disease-specific measure of quality of life in adolescents with psoriasis.

BACKGROUND: No age-appropriate and disease-specific instrument currently exists to measure health-related quality of life in adolescents with psoriasis (patients aged 12-17 years). OBJECTIVES: To develop and provide preliminary validation of the Adolescent Psoriasis Quality of Life instrument. METHODS: Qualitative interviews with adolescents with psoriasis, parents of adolescents with psoriasis, and healthcare professionals informed the development of an initial item pool for the instrument, which was subsequently refined through cognitive interviews. Finally, data from an independent sample of adolescents with psoriasis (n = 50) were used for item reduction, scale construction and initial validation, using a combination of techniques from classical test theory and Rasch modelling. RESULTS: Rich qualitative data concerning health-related quality of life in adolescents with psoriasis (from 18 adolescents, 14 parents and four healthcare professionals), combined with cognitive interview testing (n = 12), resulted in a 41-item draft version. Item reduction led to the final version, a 17-item instrument consisting of two subscales showing good fit to their respective Rasch models: psychosocial impact (12 items) and the impact of physical symptoms and treatment (five items). All a priori stated hypotheses regarding construct validity were supported. Both subscales and the total scale showed acceptable test-retest reliabilities (intraclass correlations 0·97, 0·89 and 0·96) and internal consistencies (Cronbach's α 0·94, 0·81 and 0·95). CONCLUSIONS: The preliminary form of the Adolescent Psoriasis Quality of Life instrument shows promising psychometric properties. It can be used in daily clinical practice and research to support a patient-centred approach and inform treatment planning. What's already known about this topic? Health-related quality of life (HRQoL) instruments should be targeted towards narrowly defined age groups, as life contexts of children, adolescents and adults may differ substantially. Dermatology-specific instruments have been used to measure HRQoL in adolescents with psoriasis, but it is not known whether these instruments accurately capture all relevant HRQoL aspects in adolescent psoriasis. Age-appropriate and psoriasis-specific instruments may be more sensitive for HRQoL issues experienced by this unique group. What does this study add? The Adolescent Psoriasis Quality of Life instrument represents the first age-appropriate and disease-specific instrument for measuring HRQoL in adolescents (12-17 years old) with psoriasis. It is intended for use in daily clinical practice to support dermatologists and other healthcare professionals in providing optimal care for adolescents with psoriasis.

Assessment of Serum MicroRNA-21 Gene Expression for Diagnosis and Prognosis of Colorectal Cancer.

BACKGROUND: MicroRNAs (miRNAs) are small, non-coding RNAs that are involved in carcinogenesis through posttranscriptional gene regulatory activity. The current study aimed to evaluate serum miR-21 expression levels as potential biomarkers for diagnosis and prognosis of colorectal cancer (CRC) patients. METHODS: Quantitative real-time RT-PCR was applied to determine the relative expression level of miR-21 in serum. At the same time, the sensitivity and specificity of this marker were evaluated by receiver operating characteristic (ROC) curve analysis. RESULTS: miR-21 expression levels of serum were 3.4 and 1.25 in patient and control, respectively (p < 0.05). The sensitivity and specificity of miR-21 were found to be 95.8% and 91.7%, respectively. The high expression level of serum miR-21 were associated with higher local recurrence, TNM staging, PT staging, venous invasion, liver metastasis, and recurrence (p < 0.05). CONCLUSION: The results of this study indicated that miR-21 expression levels in serum can be considered as a novel non-invasive biomarker for early detection and prognosis of CRC patients.

Genetic and epigenetic modifications of adiponectin gene: Potential association with breast cancer risk.

BACKGROUND: Adipokines produced by adipose tissue are directly linked to obesity and may contribute to the pathogenesis of cancer. We hypothesized that genetic and epigenetic modifications in the adiponectin (ADIPOQ) gene and their impact on serum ADIPOQ levels may participate in increasing breast cancer (BC) risk. The present study aimed to investigate ADIPOQ +45 T/G gene polymorphism, methylation status at CpG sites -74 nucleotides (nt) and -283 nt of the ADIPOQ gene, and ADIPOQ serum levels in BC obese women. METHODS: Serum ADIPOQ was measured by an enzyme-linked immunosorbent assay. ADIPOQ +45 T/G gene polymorphism and ADIPOQ promoter methylation status were determined using a polymerase chain reaction (PCR) and a methylation-specific PCR, respectively, in 120 obese women with BC and 120 age-matched controls. RESULTS: ADIPOQ +45 GG genotype carriers had a significant increased risk of developing BC (odds ratio = 6.2, 95% confidence interval = 1.3-29.6, p = 0.02). ADIPOQ gene methylation at site -74 nt resulted in a 1.7-fold increased BC risk. Methylation at site -283 nt resulted in a 1.9-fold increased BC risk. Moreover serum levels of ADIPOQ were significantly decreased in BC patients and down-regulated in the presence of methylation in both examined sites. By contrast, no association between ADIPOQ gene polymorphism and serum ADIPOQ level was detected. Using both methylated sites in one panel detected cancer breast with 76.67% sensitivity and 62.18% accuracy. CONCLUSIONS: ADIPOQ +45 T/G polymorphism and ADIPOQ promoter methylation were found to be associated with BC risk in obese Egyptian women.

miR-146a and miR-196a-2 genes polymorphisms and its circulating levels in lung cancer patients.

Recently, MicroRNAs polymorphisms and their serum expression have been linked to increase risk of various cancers. The aim of this study was to elucidate the association between single nucleotide polymorphisms of miR-146a and miR-196a-2 and their serum expression and lung cancer risk. One hundred and twenty lung cancer patients and 120 health controls were included in this study. Genotyping and expression for miR-146a and miR-196a-2 were performed using polymerase chain reaction (PCR)-restriction fragment length polymorphism and quantitative real-time PCR. Individuals carrying miR-146a CG and CC genotypes had significantly increased risk for lung cancer than those carrying miR-146a GG genotype. MiR-146a expression significantly decreased in miR-146a CG and CC genotypes carriers as compared with GG genotype carriers. MiR-196a-2 CT and TT genotypes were significantly associated with increased lung cancer while the highest expression of MiR-196a-2 was detected in miR-196a-2 CC genotype carriers. Serum miR-146a was significantly decreased in lung cancer patients while serum miR-196a-2 expression was significantly increased in lung cancer patients. In conclusion, miR-146a and miR-196a-2 genes polymorphisms and their circulating levels were associated with lung cancer risk in Egyptians and may be helpful in early detection of lung cancer.

RASSF1A and SOCS1 genes methylation status as a noninvasive marker for hepatocellular carcinoma.

BACKGROUND: DNA methylation status is one of the most prevalent molecular alterations in human cancers. Identification of powerful diagnostic and prognostic biomarkers for hepatocellular carcinoma (HCC) without a biopsy is urgently required. OBJECTIVE: The purpose of this study was to determine the methylation status of RASSF1A and SOCS-1genes as a non-invasive biomarker for HCC identification and prognosis. METHODS: Methylation specific-PCR technique was performed to recognize the methylation status of RASSF1A and SOCS-1 genes in 100 patients with HCC, 100 patients with liver cirrhosis (LC) but without HCC were considered as cirrhotic liver control group and 100 healthy control. RESULTS: Methylation of RASSF1A and SOCS-1 genes were detected in 40% and 38% of HCC patients respectively, 14% and 20% of LC patients respectively. Methylation of SOCS-1 gene in peripheral blood of healthy control was 23%. Methylation of RASSF1A gene was associated with age, tumor size, vascular invasion and α fetoprotein (AFP), while SOCS-1 gene methylation was significantly associated with tumor size and AFP. Furthermore, using RASSF1A/ SOCS-1/ AFP panel improve diagnostic sensitivity for HCC 86% and specificity of 75%. CONCLUSION: RASSF1A and SOCS1 genes methylation status may play an important role in the process of hepatocarcinogenesis and may be used as diagnostic and prognostic noninvasive biomarkers for HCC when combined with serum AFP.

Trace elements and oxidative stress in children with type 1 diabetes mellitus.

BACKGROUND: The early imbalances of trace elements in type 1 diabetes (T1D) may cause disturbance of glucose metabolism and more oxidative stress that may enhance the development of insulin resistance and diabetic complications. We aim to evaluate the serum level of selenium (Se), zinc (Zn), magnesium (Mg), and copper (Cu), the degree of oxidative stress and evaluate their relations to glycemic control in children with T1D. METHODS: A case-control study which included 100 diabetic children and 40 healthy children age, sex, and ethnicity-matched as a control group. The diabetic children were divided into poor and good controlled patients according to glycosylated hemoglobin (A1c %). Studied children underwent history taking, clinical examination and laboratory measurement of serum Se, Zn, Mg, and Cu levels, erythrocyte reduced glutathione (GSH) and peroxidase enzyme activity (GPx). RESULTS: Serum Se, Zn, Mg, Cu, erythrocyte GSH, and GPx were significantly lower in the diabetic group in comparison to the control group (P<0.05) and their levels were lower in poorly controlled patients compared to good controlled patients (P<0.05). The serum Se, Zn, Mg, erythrocyte GSH, and GPx showed a negative correlation with A1c %. The serum Se showed a positive correlation with erythrocyte GSH and GPx ([r=0.56, P<0.001], [r=0.78, P<0.001], respectively). CONCLUSION: Children with T1D, especially poorly controlled cases, had low serum Se, Zn, Mg, Cu, GSH, and GPx. Low serum Se in diabetic children may affect the erythrocyte GSH-GPx system.