Background Duchenne muscular dystrophy (DMD) is a neuromuscular disease of children caused by dystrophin protein deficiency encoded by dystrophin gene that is localized to the short arm of the X chromosome, position 21.1q. dystrophin gene mutation results in this disorder. Dystrophin is necessary for keeping the integrity of both skeletal and smooth muscles. Aim Identify mutations in the group of Egyptian DMD patients, namely exons 48, 49, and 51, and to create a genotype–phenotype correlation from analyzing these patients clinically as well as genetically. Patients and methods The study included 50 children, 25 DMD patients selected from the Neuropediatric Outpatient Clinic, Abo El Reesh Hospital, Cairo University, selected based on clinical, biochemical, and electromyography findings suggestive of a myopathic picture and 25 normal healthy children matched for age and sex constituted the control group, analysis was done using q-real-time PCR. Results About 75% (18/24) showed single-exon deletion, while 25% (6/24) showed multiple-exon deletions, of which 12.5% were double deletions and 12.5% were triple deletions, the clinical severity of the condition seems to be independent on the number of deleted exons. The most common single deletion was that of exon 48 followed by exon 51.

Background Mesenchymal stem cells (MSCs) represent an archetype of adult multipotent somatic stem cells and a promising tool for application in regenerative medicine. However, researchers do not concur on the best source for expansion and clinical differentiation. Aim The current study was performed to evaluate and compare adipose tissue (AT), Wharton's jelly (WJ), and umbilical cord blood (CB) with bone marrow (BM)-MSCs in terms of their morphology and their expansion potentiality using the minimum requirements for growth. Participants and methods Mechanical–enzymatic protocol was used for isolation of AT-MSCs and WJ-MSCs, whereas density-gradient separation method and automated cell separator were applied for isolation of BM-MSCs and CB-MSCs, respectively. The isolated cells were cultured in RPMI-1640 media containing fetal bovine serum for 6 days. Then, their phenotypic characterization (CD34, CD133, CD90, and CD105) and their viability (7-aminoactinomycin D) was detected by flow cytometry. Results Our results showed that MSCs from the four different sources have similar morphology, the highest percentage of CD34, CD133, and CD90 was found in CB samples, whereas the lowest was for BM samples. While the highest percentage of CD105 was expressed in AT samples and the lowest was also present in BM samples. Finally, the BM-MSCs showed the least liability to be damaged following the handling procedure for separation and culturing, whereas WJ-MSCs were the most injured ones. This may be correlated to the mechanical–enzymatic protocol used for cells' isolation. Conclusion Although BM and AT specimen collection involves painful procedures, being autologous makes them safe and feasible candidates for therapeutic future applications.

Background Vitamin D (VD) and its metabolites reduce the incidence of various cancers, including head and neck squamous-cell carcinoma (HNSCC) by inhibiting tumor angiogenesis, stimulating mutual adherence of cells, and enhancing intercellular communication, thereby strengthening the inhibition of cellular proliferation. Epidemiologic and case–control studies have demonstrated that low VD levels are associated with HNSCC risk. Some studies showed that patients with HNSCC who received VD at the time of diagnosis had diminished peripheral blood and intratumoral levels of immunosuppressive CD34 + cells and increased levels of mature dendritic cells. In addition, they showed the quantitative increase of the immune cells within the HNSCC tissue following VD treatment. Aim To investigate VD levels in head-cancer and neck-cancer patients as a step to further elucidate its association with head and neck cancer development, progression, and outcome. Participants and methods This study showed that VD deficiency is prominent in patients with head and neck cancer than in controls. Although it may increase patients' risk of therapy-related morbidity and poor outcome, it represents an inexpensive prophylactic and cost-effective option in the therapeutic armamentarium as a synergistic agent to traditional treatment strategies. Results The mean VD level in group A was 7.4 ± 2 ng/ml and for group B was 21 ± 6 ng/ml (P=0.043), indicating a significant decrease of VD in group A than in group B. Also, VD-deficiency status was significantly correlated with lower hemoglobin levels and with hepatitis C virus seropositivity in the studied cases. Conclusion This study showed that VD deficiency is prominent in patients with head and neck cancer than in controls. Although it may increase patients' risk of therapy-related morbidity and poor outcome, it represents an inexpensive prophylactic and cost-effective option in the therapeutic armamentarium as a synergistic agent to traditional treatment strategies.

Background Hepatocellular carcinoma (HCC) is the fifth most common cancer in the world and the third most common cause of cancer deaths accounting for about 745 000 deaths per year globally. HCC is often diagnosed at an advanced stage where effective therapies are lacking. Aim Is to investigate the role of serum chromogranin A (CgA) as a marker for detection of HCC in patients with HCC complicating chronic hepatitis and correlate its serum levels with alpha fetoprotein (AFP). This study was conducted on 90 HCC patients (group I), 30 patients with hepatic cirrhosis (group II), and 30 age-matched and sex-matched healthy-controls (group III). Group I was further subdivided into group Ia (30 patients) with HCC complicating chronic hepatitis B, and group Ib (60 patients) with HCC complicating chronic hepatitis C. All participants included in the study were subjected to full history taking and clinical examination, laboratory investigations, including complete blood count, liver-function tests, renal-function tests, and viral markers. Serum AFP and serum CgA levels were also determined. Results Our results revealed that there was a highly significant elevation (P < 0.01) in the median serum CgA in hepatitis-B virus -related HCC (200 ng/ml) and hepatitis-C virus-related HCC (190 ng/ml) when compared with the control group (30 ng/ml) and when compared with cirrhotic group (60 ng/ml) with no significant difference between the median serum CgA in hepatitis-B virus -related HCC and hepatitis-C virus-related HCC (P > 0.05). A highly significant positive correlation between chromogranin and AFP (P < 0.01) was found in HCC patients. On the other hand, no significant correlations were found between chromogranin and complete blood count, kidney functions, and liver-function tests in patient groups. Diagnostic reliability testing revealed that for CgA, the best cutoff for discriminating HCC patients was 100 ng/ml at which the sensitivity was 77.78%, the specificity 93.3% with positive predictive value 94.59% and negative predictive value 73.68%. Regarding the combination between CgA and AFP, it showed a sensitivity of 97.78% and a specificity of 86.67%. Conclusion Serum CgA is a promising sensitive and specific tumor marker for identification of HCC. Addition of serum CgA to the current standard tests will improve the sensitivity and accuracy of diagnosis of HCC patients and thus could allow them to benefit from earlier treatment.

Purpose: The goal of the study was to detect the existence of an abnormal proteomic pattern in prostate cancerpatients by comparing them to control subjects from a matching age group. Method: The study was conducted on50 newly diagnosed prostate cancer (PCa) patients and 50 normal individuals who were proven clinically and bylaboratory investigations to be healthy. Plasma samples were processed using MB-WCX magnetic beads andsamples were tested using a mass spectrometer. Mass spectra was acquired using Bruker's FLEX-analysisprogram and later the peaks were analysed using the ClinProTools analysis. Three statistical models (Geneticalgorithm GA, Supervised Neural Network SNN, Quickclassifier QC) were generated to detect the peaks. Results: The results showed 26 peaks were found to be significantly expressed between the cases and thecontrols with PWKW <0.05. Out of these, six peaks were over expressed in cases, while 20 peaks were under-expressed. The GA model generated the best peak combination, showing five peaks with the m/z ratios 2485.97,1061.24, 3295.1, 4612.54 and 2817.28. This model achieved a sensitivity of 87.5% and a specificity of 92.9%during external validation. Conclusion: It can be concluded that proteomic profiling can be an effective method for the discovery of newblood-based tumour markers for PCa patients. Moreover, MALDI-TOF proteomic profiling represents a newfrontier for screening and early diagnosis of prostate cancer in Egypt. The analytical performance of multiplexedtumour profiles exceeds that of the single traditional tumour markers.