Corynebacterium urealyticum is a Gram positive, slow-growing, lipophilic, multi-drug resistant, urease positive micro-organism with diphtheroid morphology. It has been reported as an opportunistic nosocomial pathogen and as the cause of a variety of diseases including but not limited to cystitis, pyelonephritis, and bacteremia among others. This review serves to describe C. urealyticum with respect to its history, identification, laboratory investigation, relationship to disease and treatment in order to allow increased familiarity with this organism in clinical disease.

Introduction: The role of DNA methylation in metabolic dysregulation is emerging. However, the functional role of methylation in obesity and metabolic dysregulation is poorly understood. Aim: to compare DNA methyltransferase-3A (DNMT3A) and ten eleven translocase-2 (TET2) levels in children and adolescents with obesity to normal weighed children and adolescents, and to correlate them to various metabolic parameters. Methods: Fifty children and adolescents with obesity were compared to fifty matched normal weighed children and adolescents. Participants underwent assessment for anthropometric measurements, Tanner staging, acanthosis nigricans, and mean blood pressure percentile on three different occasions. TET2, DNMT3A, fasting lipids and insulin were measured with calculation of the homeostatic model-assessment insulin-resistance (HOMA-IR). Results: The median BMI SDS of the studied children and adolescents with obesity was 3.40, their mean TET2 was 178.40 ng/ml and their mean DNMT3A was 2.18 ng/ml. TET2 is significantly lower (P=0.009) while DNMT3A is significantly higher (P<0.001) in children and adolescents with obesity than controls. Children and adolescents with obesity and insulin resistance have significantly lower TET2 (P=0.012) and significantly higher DNMT3A (P=0.013) than those without insulin resistance. Diastolic blood pressure percentile and HOMA-IR are positively correlated to DNMT3A (P<0.001) and negatively correlated to TET-2 (P<0.001). Multi-variate logistic regression analysis revealed that TET2 and DNMT3A are independently associated with diastolic blood pressure percentile (P=0.03 and P=0.014, respectively) and HOMA-IR (P=0.003 and P=0.001, respectively). Conclusions: Children and adolescents with obesity have significantly higher DNMT3A and significantly lower TET2 than controls. This is more evident in those having insulin resistance than those without. DNMT3A and TET2 are independently associated with systemic hypertension and insulin resistance in children with obesity.

Background: The clinical experience gathered throughout the years endorses primary immunodeficiency diseases (PIDs) awareness and guides research into newborn screening and future therapeutic strategies.Combined T-cell receptor excision circle levels (TRECs) and kappa-deleting recombination excision circles (KRECs) assay paves the way to new potential applications in this field. Objectives: We aimed to establish a technique for quantification of TRECs and KRECs in Egyptian individuals in our laboratory and to set a lower threshold of normal for TRECs and KRECs in pediatric population for different age groups as a start for its implementation in newborn screening protocols for PIDs. Methods: 50 apparently healthy children (25 males and 25 females) with age ranging from 1 day to 16 years were analyzed..Combined quantification of TRECs and KRECs in the genomic DNA of peripheral blood mononuclear cells was performed using real-time quantitative PCR. Results: Individuals in the study were divided in to 5 different age groups Data regarding lower threshold of normal for TRECs and KRECs copies per ml of blood among the study group was obtained. A highly significant negative correlation between TRECs and KRECs, both calculated per 10 6 PBMCs and per ml of blood and age was observed. On the contrary, there was no statistically significant differences in the studied parameters between males and females when evaluated regardless of age (p value=0.697). Conclusion: It appeared that it is technically feasible to introduce the TRECs/KRECs quantitation by real time PCR into routine laboratory practice to be used in the near future both for new born screening for PIDs

Fetal hemoglobin (HbF) is a potent genetic modifier of β-thalassemia phenotype. B-cell lymphoma 11A (BCL11A) gene results in significant silencing of HbF. The aim of this study was to assess the prevalence of different BCL11A genotypes among a cohort of Egyptian children with β-thalassemia and to correlate them to HbF and clinical severity score. Eighty-two children with β-thalassemia (aged 12.95 ± 3.63 years) were recruited from the Pediatric Hematology Clinic, Ain Shams University. They were divided based on the clinical severity of β-thalassemia into three subgroups: 20 mild (24.4%), 24 moderate (29.3%), and 38 severe (46.3%). Age, gender, age of diagnosis, initial HbF level, transfusion history, and history of splenectomy were assessed. Anthropometric measures, signs of anemia and hemosiderosis, and the severity score were determined. Laboratory investigations such as complete blood picture, ferritin, and single gene polymorphism genotyping of the rs11886868 were also performed. Our findings showed that 16 children had CC genotype (19.5%), 38 had TC genotype (46.3%), and 28 had TT genotype (34.1%) of the rs#. β-thalassemia children with TT genotype had significantly higher severity scoring than the other two groups (p < 0.001). Moreover, mean initial HbF was found to be lower in children with TT genotype followed by TC and CC genotypes (p < 0.001). Increased γ-globin expression associated with BCL11A gene polymorphism is associated with better clinical severity of β-thalassemia.

Background The Prevalence of thyroid nodules is rising nowadays, luckily most of them are benign. The risk of malignancy 5-15%, which necessitates the ultimate need to accurately distinguish benign from malignant nodule to avoid unnecessary thyroidectomy with risk of recurrent laryngeal nerve injury, postoperative hypothyroidism and lifetime thyroid replacement therapy, and other complications related to surgery and anaesthesia. Recent evidence suggests that circulating miRNA might have probable advantage as diagnostic or prognostic markers for numerous cancers. Given their reproducible and constant presence in sera, miRNA profiles have emerged as a non-invasive method to categorise a wide variety of human cancers. Aim of the study To evaluate a possible relationship between the expression level of circulating miRNA-222 and the histological outcome of euthyroid patients undergoing thyroidectomy for thyroid nodules with indeterminate FNAB cytology. Patients and Methods 45 patients of both genders, of age ranging from 19-70 years old visiting endocrine clinic or admitted to the endocrine surgical department with indeterminate thyroid nodules planned for thyroidectomy were included. All pateints were subjected to full medical history taking, general and local clinical examination, laboratory investigations (thyroid function tests), quantitative assay of serum micro RNA-222 expression by quantitative Real-Time polymerase chain reaction (qRT-PCR), ultrasonography imaging of thyroid gland, fine needle aspiration biopsy and cytology of the thyroid nodule, histopathological examination after thyroidectomy. Results The incidence of thyroid nodules was predominant in female gender in benign group and malignant group. Risk of malignancy increases as TI-RADS and Bethesda scores increases. Also, larger nodule in size has a more risk of malignancy (p = 0.034). Expression level of circulating miRNA222 in serum can’t differentiate between healthy, benign and malignant patients where there was no significant difference between them statistically (p = 0.867). Circulating miRNA-222 is a poor predicator for malignant nodules with sensitivity of 50%, specificity of 32.43%, with high negative predictive value (NPV=75%). Conclusion Expression level of circulating miRNA-222 is a poor predictor of malignant nodules in our studied group. The larger the nodule size the more risk of malignancy. Also, as TI-RADS and Bethesda scores increases the more risk of malignancy.