MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders.

Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), congenital muscular dystrophies (CMDs), limb-girdle muscular dystrophies (LGMD), and mild spinal muscular atrophy (SMA) type III share several presenting clinical features, and hence, diagnosis is usually a challenging task. In this study, the diagnostic potential of some species of microRNAs (miRNAs) that are known to play roles in normal and pathological contexts of myocytes (myomiRs) were evaluated to assess their potential in differential diagnosis of NMDs.

miRNome profiling in Duchenne muscular dystrophy; identification of asymptomatic and manifesting female carriers.

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder that occurs due to inactivating mutations in DMD gene, leading to muscular dystrophy. Prediction of pathological complications of DMD and the identification of female carriers are important research points that aim to reduce disease burden. Herein, we describe a case of a late DMD patient and his immediate female family members, who all carry same DMD mutation and exhibited varied degrees of symptoms.

Assessment of diagnostic potential of some circulating microRNAs in Amyotrophic Lateral Sclerosis Patients, an Egyptian study.

Objective: Numerous studies have been carried out to identify the role of microRNA (miRNA) as potential biomarkers for many diseases including amyotrophic lateral sclerosis (ALS). The aim of this study was to explore the circulating levels of some miRNAs in cohort of Egyptian ALS patients in an attempt to correlate the selected miRNA profiles with disease progression.

Methods: Thirty ALS patients and 20 age and sex matched healthy controls were enrolled.

Assessment of Interferon Gamma-Induced Protein 10 mRNA Release Assay for Detection of Latent Tuberculosis Infection in Egyptian Pediatric Household Contacts.

Objectives: Current diagnostic tests for tuberculosis (TB) in children living in low-endemic countries are limited by low specificity and the inability of the current tests to differentiate between active TB and latent TB infection (LTBI). This study aimed to evaluate the blood IP-10 mRNA expression level to detect LTBI in Egyptian pediatric household contacts (PHC).

Methods: TB-specific IP-10 and IFN-γ mRNA levels were assessed by real-time quantitative PCR (RT-qPCR) in 72 Egyptian PHC of active pulmonary TB cases.

Assessment of Human Papillomavirus Infection and Risk Factors in Egyptian Women With Breast Cancer.

Numerous risk factors for breast cancer (BC) have been identified. High-risk human papilloma virus (HR-HPV) is the etiological agent of cervical cancer and in some cases of head and neck cancer, specifically oropharyngeal cancer, but the role of HR-HPV in evoking neoplasia in BC is still unclear. In this study, all women above the age of 18 visiting the oncology clinic at Al-Azhar university hospital and Ain Shams specialized hospital between the period of February 2017 and March 2018 were invited to participate.

Expression profiling of some Acute Myeloid Leukemia - associated markers to assess their diagnostic / prognostic potential.

Investigating the etiological causes of acute myeloid leukemia (AML) at the molecular level should help in identifying targets and strategies that would increase the efficacy of the current management regimens. Some genes may act as molecular diagnostics, of these ASXL1 and PHF6 are involved in regulation of gene expression, and BAX , and ARC, are pro- and anti-apoptotic molecules, respectively. In this study, peripheral blood samples were collected from 54 recently diagnosed AML patients in addition to 20 healthy individuals (the control group).

Assessment of the Diagnostic Potential of miR-29a-3p and miR-92a-3p as Circulatory Biomarkers in Acute Myeloid Leukemia.

Background: Acute myeloid leukemia (AML) is a set of Myeloproliferative neoplasms that are identified by excessive growth of myeloid blasts and production of abnormal blood cells. AML is the most common type of acute leukemia that occurs in adults. In addition, AML progresses rapidly and is considered a fatal disease.

Circulating MicroRNAs in Duchenne Muscular Dystrophy.

Objective: The diagnosis of Duchenne Muscular Dystrophy (DMD) currently depends on non-specific measures such as Creatine kinase (CK) levels. MicroRNAs (miRNAs) are a class of small, endogenous RNAs of 21-25 nucleotides, that are important regulators for numerous physiological and pathological processes. The aim of the current study is to assess the potential of miRNAs as non-invasive biomarker for the diagnosis of DMD and for identifying carriers.