Gastrointestinal stromal tumor (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract with stomach being the commonest site. These mesenchymal neoplasms account for only about 1% of all primary malignant neoplasms of the gastrointestinal tract. These mesenchymal neoplasms belong to a group of tumors known as the connective tissue cancer group. GISTs are recognized to start from the interstitial cells of Cajal or their stem cell precursors. The natural evolution of these neoplasms is variable. Studies on GISTs have revealed molecular genetics and histopathological features that lead to molecular abnormality-based classification, diagnosis, and treatment. On the contrary, an increasing awareness of risk stratification is important to highlight the parameters that identify the biologic behavior based on recurrence or metastasis. This review aimed to study by histopathological and immunohistochemical tests for accurate diagnosis and differentiating GISTs from other tumors with the same location. In addition, molecular genetic understanding was necessary to determine the treatment approaches and identify patients who benefit from adjuvant therapy.

Platelets play a major role in normal hemostatic and thrombotic processes. Aggregation of platelets presents the key pathophysiological step in the development of cardiovascular diseases; hence, antiplatelet agents remain crucial in the treatment of cardiovascular diseases. They may target the three principal phases leading to thrombogenesis, including platelet adhesion, activation, and aggregation. This review presents an overview of the currently available antiplatelet agents, with a particular focus on their targets, pharmacological properties, and limitation of use.

Background/aim The tongue squamous cell carcinoma (TSCC) is considered one of the primary causes of death worldwide. Despite the presence of different therapeutic modalities, scientists always search for natural products that have an anticancer effect. Apricot oil extract has anticancerous effect, but its use is limited due to its toxic systemic effect. In this study, we aimed to investigate the anticancer effect of apricot oil extract locally applied on induced TSCC. Material and methods Thirty rats were divided into three groups, group I was the control group, group II received 7, 12 Dimethylbenz[a]anthracene (DMBA) topically and group III received apricot oil extract alternative with Dimethylbenz[a]anthracene topically. After killing the rats, tongues were dissected and were prepared for histological and immunohistochemical assessment. Results Group II developed TSCC with features of malignancy while group III showed hyperplastic epithelium which was dysplastic and started invasion in few cases. Immunohistochemically, group II showed a strong positive expression of Ki-67 and matrix mettaloprotinase 9 compared with group III. Statistical analysis showed that group II was significantly the highest in Ki-67 and matrix mettaloprotinase 9 expression. Conclusions From the results obtained, we can conclude that apricot oil has potent anticarcinogenic effect and that using it topically may be an alternative to systemic use.

Background/aim The masticatory problem of removable complete dentures had been introduced by many researchers to be assisted by many recent technologies. Solving such issues advances self-patient satisfaction, confidence, and motivation. This study aimed to evaluate masticatory performance and patient satisfaction of metal-reinforced and CAD/CAM-fabricated acrylic resin mandibular complete dentures. Patients and methods Sixteen completely edentulous patients were divided randomly following a 1 : 1 allocation ratio into two groups; group I received maxillary and mandibular complete dentures constructed from acrylic resin reinforced with chrome cobalt framework and group II received maxillary and mandibular rapid prototype complete dentures (3D-printed) using the CAD/CAM technique. At baseline, 2, and 4 weeks, masticatory performance using the masticatory efficiency index and patient satisfaction using Borerrigter’s method of assessing patient satisfaction were evaluated at each interval for further statistical analysis using one-way analysis of variance test followed by Tukey’s post-hoc test for multiple comparisons and Pearson’s correlation coefficient between different variables. Results Regarding masticatory performance for each group, one-way analysis of variance revealed a significant difference between different intervals as a P value less than 0.05 with higher masticatory values for group II, while for patient satisfaction, it showed an insignificant difference for all satisfaction domains as a P value more than 0.05. The correlation between masticatory performance and overall patient satisfaction was calculated using Pearson’s correlation coefficient and revealed a moderate to strong, positive, significant correlation in both groups. Conclusion The masticatory performance and patient satisfaction of mandibular complete dentures constructed by the 3D-printed CAD/CAM method were higher than acrylic resin denture bases reinforced with chrome cobalt framework, denoting that the 3D-printed CAD/CAM method can be the primary clinical treatment option for completely edentulous patients despite its overall level of satisfaction, which requires additional follow-up investigations to pronounce the positive effect of CAD/CAM dentures.

Background/aim Colorectal cancer (CRC) is one of the most frequent cancers worldwide with one of the highest mortality rate. CD163 is a 130-KDa transmembrane protein, known to be involved in hemoglobin clearance by functioning as a receptor for hemoglobin–haptoglobin complex. Several studies have demonstrated that CD163 is expressed on some cancer cells, and its expression is associated with poor clinical prognosis. This study aimed to evaluate CD163 to assess the distribution of macrophages in invasive margins and intratumoral infiltration area, using computerized image analysis, to evaluate its prognostic value and its association with other clinicopathological characteristics in colorectal carcinoma. Patients and methods The present study enrolled 80 formalin-fixed paraffin-embedded CRC surgical specimens, obtained from the Department of Pathology of National Research Centre, Egypt, and examined for the expression of CD163 in CRCs by immunohistochemical techniques. The morphometric analysis was done on the invasive margins and intratumoral infiltration area in each slide. Results The study cases of colorectal carcinoma patients, 46 (57.5%) cases were diagnosed as adenocarcinoma and rest 34 (42.5%) cases were mucinous carcinoma. Twenty-two cases (22/80) showed a low intratumoral infiltration area and moderate invasive margin. CD163+ intratumoral infiltration significantly correlated with age, tumor site, tumor type, lymph node status, and metastasis. On the other hand, CD163+ invasive margins significantly correlated with tumor grade, tumor classification, metastatic status, tumor stage, and Duke’s classification. Conclusion Invasive front of the tumor is the most suitable area for the evaluation of tumor-associated macrophages that is important in detecting prognostic prediction of colon cancer and its clinical outcome. So, it can be considered as an ideal prognostic marker in the treatment of colon cancer.

Background/aim Inborn errors of metabolism (IEM) are a group of congenital disorders that result from deficiency of enzymes or transporters involved in different metabolic pathways in the human body. The most severe form of these disorders appears early in the neonatal period; however, most types of IEMs are responsive to treatment if started early enough before the appearance of serious complications. The introduction of mass spectrometric techniques for analysis of metabolites accumulated in IEM facilitates the early diagnosis through enabling analysis of a large number of samples in a short period of time using small sample sizes suitable for patients in the neonatal period. The aim of this study was to find out the prevalence of amino acids, fatty acids, and organic acids disorders, using mass spectrometry among Egyptian children with metabolic disorders who were referred to the Biochemical Genetics Lab, Human Genetics, and Genome Research Institute, National Research Centre, Cairo, Egypt, over a period of 9 years. Patients and methods The present study enrolled 9245 children who visited Biochemical Genetics Department, Human Genetics, and Genome Research Institute, National Research Centre Cairo, Egypt, during the period from 2013 to 2021. All children were subjected to quantitative analysis of amino acids and acylcarnitine profiles in blood, using liquid chromatography/tandem mass spectrometry, whereas qualitative analysis of organic acids was done in urine by gas chromatography/mass spectrometry. Results Of 9245 suspected patients, 552 (5.97%) patients were diagnosed with 13 different types of IEM. A total of 383 (4.1%) patients were diagnosed with aminoacidopathies, 167 (1.8%) patients were diagnosed with organic acidurias, and two (0.02%) patients were diagnosed with fatty acid oxidation disorders. Phenylketonuria is the most prevalent IEM of this study (2%) followed by maple syrup urine disease (0.98%). Conclusion The simultaneous analysis of amino acids and acylcarnitines in dried blood spots with analysis of organic acids in urine using mass spectrometry provides an integrated panel for the early detection of IEMs in early years of life, facilitating prompt provision of treatment and avoiding serious complications that can be fatal.

Background/aim Polycystic ovary syndrome (PCOS) is a prevalent endocrine condition affecting 5–10% of reproductive-aged women, the cause of which is unknown. Chronic anovulation, polycystic ovaries, and hyperandrogenism are symptoms of PCOS. It is linked to hirsutism, obesity, and increased probability of cardiovascular disease, metabolic syndrome, and diabetes mellitus. A risk factor for cardiovascular disease is PCOS that is undiagnosed or untreated. Our aim in this study is to investigate serum fetuin-A level and its gene as potential biomarkers for screening of insulin resistance in PCOS. Patients and methods This study involved 100 female participants from outpatient clinic, Department of Obstetrics and Gynecology, Zagazig University Hospital, Egypt. They were split into two groups (each 50). The first group included healthy fertile women without symptoms of hyperandrogenemia as a control. The second group included women with PCOS. Fasting blood sugar levels, cholesterol, high-density lipoprotein cholesterol and triglycerides have been estimated by enzymatic colorimetric technique while low-density lipoprotein cholesterol was calculated. Enzyme-linked immunosorbent assays have been used to measure serum concentrations of luteinizing hormone, follicular-stimulating hormone, testosterone, and fetuin-A, while PCR has been used to extract DNA and genotype common functional polymorphisms in fetuin-A. Results The present results revealed a considerable rise in glucose, insulin, Homeostasis Model Assessment of Insulin Resistance (HOMA-IR), cholesterol, triglyceride, low-density lipoprotein cholesterol, luteinizing hormone, testosterone, and fetuin-A and significant decrease in follicular-stimulating hormone and high-density lipoprotein cholesterol in PCOS patients. Also, there was significant higher frequency of the fetuin-A gene variant rs1071592 AA genotype and A allele compared to controls. Conclusions Fetuin-A has a potential diagnostic value as a biomarker for insulin resistance in PCOS associated with metabolic syndrome. Additionally, ‘CG’ allele can be considered a risk factor for PCOS.

Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide range of clinical stigmata of which short stature, ovarian dysgenesis, and dysmorphic features are the most frequent. Morbidity and mortality are clearly increased compared with the general population, and the average age at diagnosis is quite delayed. Even if the majority of females with TS have a non-mosaic 45,X karyotype, several karyotype variations exist, including short or long arm deletion, ring X isochromosome of the long arm, and 45,X 46,XX mosaicism. This explains the large phenotypic and genetic heterogeneities of TS, which make the diagnosis and especially the management increasingly difficult. We present in this work a genetic study of TS in the Tunisian population to establish a genotype–phenotype correlation, which would be of great help for the diagnosis and the care of patients. Patients and methods A total of 26 unrelated Tunisian girls were included in this study. All patients underwent a complete clinical and biochemical examination as well as karyotyping. The screening for the SRY gene was carried out by fluorescence in-situ hybridization or by PCR. Results Cytogenetic results showed a prevalence of the 45,X karyotype in 46% of patients and various proportions of the other karyotypes. However, genotype–phenotype correlation revealed several discrepancies regarding the major signs and the age at diagnosis. The comparison of the approaches used for the screening of the SRY gene showed that karyotyping is unable to detect low 45,X/46,XY mosaicism and that it is the PCR that would be able to do, eliciting its role to make a reliable diagnosis. Conclusion The karyotype alone is not sufficient to make a TS diagnosis in cases of weak mosaicism, and the great heterogeneity that reigns the syndrome elicits an epigenetic and transcriptomic exploration of several genes that recently seem to be involved in the disease.

Background/aim The disclosure of new gene polymorphisms and their association with rheumatoid arthritis (RA) susceptibility open new windows for better clarification of disease pathogenesis, leading to discovering new therapeutic targets. The present study aimed to explore the association of tumor necrosis factor receptor-associated protein 1 (TRAP1) gene rs8055172 and tumor necrosis factor superfamily number 4 (TNFSF4) gene rs1234315 with susceptibility of RA in a sample of Egyptian patients. Patients and methods This study included 200 RA patients from the Rheumatology Department Outpatients’ Clinic of Kasr El Ainy Teaching Hospital and Centre of Medical Excellence of National Research Centre, Cairo, Egypt. The study also included 200 healthy participants with no family history of autoimmunity serving as a control group. Genotyping of the studied polymorphisms was done using real-time PCR technique. Results The control group showed no significant deviations from Hardy–Weinberg equilibrium regarding rs8055172 and rs1234315 (P=0.6 and 0.2, respectively). Regarding genotypes of rs8055172, the CC homozygous genotype was more observed among patients. Therefore, the frequency of C allele is higher among RA patients compared with healthy controls (P=0.001). Logistic regression analysis of rs8055172 genotypes with susceptibility of RA was only significant under the recessive model, where patients carrying CC allele have higher susceptibility to develop RA (P=0.001, odds ratio=3.1) compared with patients carrying TT and CT allele. On the other hand, distribution of TNFSF4 (rs1234315) genotypes showed no significant difference between controls and RA group (P=0.7). Conclusions Our results indicate that the TRAP1 gene rs8055172 associates with RA in a population of Egyptians from Cairo, while TNFSF4 gene rs1234315 plays no role in disease susceptibility. A large-scale study to assess the association between TRAP1 gene polymorphism, TRAP1 mRNA expression, and TRAP1 protein level, is needed to clarify the role of TRAP1 gene polymorphism in RA pathogenesis.

Background/aim The exact cause of systemic lupus erythematosus (SLE), an autoimmune disorder, is still vague. However, it is believed that its pathogenesis could be a result of the interplay between genetics and the environment. One such genetic factor is a single-nucleotide polymorphism in the CD11b gene (rs1143679) that has been shown to potentially increase a person’s susceptibility to SLE. This study aims to investigate the possible link of CD11b rs1143679 gene polymorphism to the risk of developing SLE, as well as the different manifestations and the disease severity in the studied group of Egyptian SLE patients. Patients and methods The present study enrolled 50 patients with SLE from Benha University Hospitals, Egypt. In addition to 30 apparently healthy individuals served as control, the CD11b gene (rs1143679) genetic variant was investigated by real-time PCR. The individuals with SLE were based on the Systemic Lupus International Collaborating Clinics criteria. Results A significant association of GA genotype (odds ratio=1.908, 95% confidence interval=1.021–3.568, P<0.05) with the risk to develop SLE and A allele was also linked to an elevated risk for SLE in comparison to the G allele (odds ratio=1.881, 95% confidence interval=1.038–3.408, P<0.05). Conclusion The CD11b rs1143679 gene polymorphism might be a potential risk factor for SLE in Egyptians.

Background/aim A crucial approach for finding breast cancer sooner is the triple examination of breast diseases. Our goal was to determine if ultrasound-guided core biopsies were required to investigate clinically ambiguous breast tumors that lacked imaging features suspicious for malignancy in Breast Imaging Reporting and Data System 3. Patients and methods A prospective study was performed on 50 patients fulfilling our eligibility criteria who presented with symptomatic indeterminate breast masses chosen according to our selection criteria and underwent an ultrasonography-guided core biopsy in the period from January 2021 to March 2022. Results A total of 50 clinically ambiguous breast masses were investigated, of which 47 (94%) were benign lesions, including 34 (68%) lesions were fibroadenomas, six (12%) lesions were fibrocystic disorder without ductal hyperplasia, one (2%) lesion was fibrocystic disease with ductal hyperplasia with no atypia, and six (12%) lesions showed periductal mastitis. Two (4%) lesions were proliferative breast lesions with focal atypia. One (2%) lesion was infiltrating duct carcinoma grade 2. Conclusion Ultrasound-guided core biopsy is necessary for investigating clinically indeterminate breast mass in symptomatic patients with Breast Imaging Reporting and Data System 3 finding on imaging, for early detection of malignancy and atypical hyperplastic changes.

Background/aim Circulating forms of micro(mi)RNAs are nowadays increasingly recognized as noninvasive promising biomarkers for early diagnosis and management of breast cancer (BC). Among the numerous miRNAs studied in BC, tissue expressed miR-497-5p and miR-182-5p proved to serve as promising diagnostic, prognostic, and therapeutic target tools in BC; yet little is known about their circulating forms in the peripheral blood of such patients. The study aimed to evaluate serum expression levels of miR-497-5p and miR-182-5p in Egyptian female patients with newly diagnosed BC and their possible association with different clinicopathological features. Patients and methods The study was conducted on 50 primary BC patients at the Medical Research Institute, Alexandria, Egypt, in addition to 50 healthy female volunteers as a control group. Preoperative serum samples were taken from all patients and from healthy volunteers. Relative quantifications of serum miR-182-5p and miR-497-5p expression levels were done using a reverse transcription-quantitative real time PCR. Results The study showed that the median value for fold change in serum miR-497-5p expression was significantly down regulated in BC patients group compared to the healthy control group. A receiver operating characteristics curve generated a cutoff value of 0.54. In serum miR-497-5p expression level was used to discriminate BC patients from controls with a diagnostic specificity of 88%, a sensitivity of 56%, and an overall test accuracy of 68.8%. However, no statistically significant difference was noted in serum miR-182-5p expression level between BC patients and control group. Nevertheless, its serum expression level was significantly higher in BC patients with lymph node involvement compared with BC patients without nodal involvement. Conclusion The downregulated serum miR-497-5p expression in BC patients compared with the healthy control group points to loss of its protective role in such BC patients. Further studies of this miRNA on a larger sample of patients with different molecular subtypes are recommended.