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Objective: This study evaluated the effects of incorporating 1% and 2% cinnamon oil into a soft liner on the growth of Candida albicans colonies and the material's hardness.Methods: Thirty soft liner specimens were prepared for the disk diffusion and thirty for the hardness test. In each test, the specimens were divided into three subgroups based on the concentration of cinnamon oil: A) 0% (control), B) 1%, and C) 2% by weight. Cinnamon oil was added to the monomer of a heat-polymerized soft liner. C. albicans was cultured on Mueller-Hinton agar, and the diameters of the inhibition zones around the specimens were measured. The Shore A hardness test was conducted using the Shore durometer. Statistical analysis was performed by the independent t-test, one-way ANOVA, and Tukey post-hoc test (α=0.05).Results: The control group showed no inhibition zone. The specimens in Group C exhibited a significantly larger inhibition zone (16.72 ± 0.82 mm) than Group B (12.56 ± 0.82 mm; P < 0.001). The hardness values differed significantly among groups (P < 0.001). Group C demonstrated the highest hardness (48.54 ± 0.95), significantly greater than both Groups B (47.13 ± 0.72; P < 0.05) and A (45.23 ± 0.73; P < 0.05).Conclusions: Adding cinnamon oil improved the antifungal activity and hardness of the soft denture liner. Adding 2% cinnamon oil increased the hardness values to the upper limit of clinical acceptability. Therefore, the 1% concentration is recommended to balance antimicrobial efficacy and maintain optimal mechanical properties of the soft liner.

Background: Preeclampsia (PE) has long been a feared condition impacting women and their pregnancies. Researchers have recently discovered the role of miR203a-p3 in various diseases. The aim of the study was to explore the role of miR203a and measure its levels in pregnant patients, along with reviewing the advancement of inflammatory markers related to disease. Methods: Seventy serum samples and erythrocyte sedimentation rate (ESR) tubes were collected from pregnant women aged 25–33 who were diagnosed with serious PE. Upon this, 15 samples were chosen for testing of the deemed levels and gene expression of miR203a. Laboratory evaluation was mainstreamed in the study, including measurements of serum creatinine, blood urea, and uric acid. These parameters were quantitated using turbidity techniques and coulometric methods for C-reactive protein. In addition, we appraised the ESR uptake by the time method and examined fibrinogen by the agglutination time method. We quantified interleukin-6 (IL-6) using an enzyme-linked immunosorbent assay. Results: The serum levels of biomarkers and inflammatory tests differed significantly in the patients compared to controls. Similarly, a rise in gene expression resulted in an abatement in the level of miR203-p3, and there was a positive direct correlation between them. Conclusion: Patients exhibit high levels of biomarkers and IL-6, along with reduced concentration and expression of miR203a. There is a significant positive correlation between miR203a and disease. Finally, miR203 has played an active role in the current disease.

Abstract Background Key discoveries and innovations in the field of human genetics have led to the foundation of molecular and personalized medicine. Here, we present the Genome Tunisia Project, a two-phased initiative (2022–2035) which aims to deliver the reference sequence of the Tunisian Genome and to support the implementation of personalized medicine in Tunisia, a North African country that represents a central hub of population admixture and human migration between African, European, and Asian populations. The main goal of this initiative is to develop a healthcare system capable of incorporating omics data for use in routine medical practice, enabling medical doctors to better prevent, diagnose, and treat patients. Methods A multidisciplinary partnership involving Tunisian experts from different institutions has come to discern all requirements that would be of high priority to fulfill the project’s goals. One of the most urgent priorities is to determine the reference sequence of the Tunisian Genome. In addition, extensive situation analysis and revision of the education programs, community awareness, appropriate infrastructure including sequencing platforms and biobanking, as well as ethical and regulatory frameworks, have been undertaken towards building sufficient capacity to integrate personalized medicine into the Tunisian healthcare system. Results In the framework of this project, an ecosystem with all engaged stakeholders has been implemented including healthcare providers, clinicians, researchers, pharmacists, bioinformaticians, industry, policymakers, and advocacy groups. This initiative will also help to reinforce research and innovation capacities in the field of genomics and to strengthen discoverability in the health sector. Conclusions Genome Tunisia is the first initiative in North Africa that seeks to demonstrate the major impact that can be achieved by Human Genome Projects in low- and middle-income countries to strengthen research and to improve disease management and treatment outcomes, thereby reducing the social and economic burden on healthcare systems. Sharing this experience within the African scientific community is a chance to turn a major challenge into an opportunity for dissemination and outreach. Additional efforts are now being made to advance personalized medicine in patient care by educating consumers and providers, accelerating research and innovation, and supporting necessary changes in policy and regulation.

Paracetamol has been recognized worldwide as a safe and effective agent for relieving pain and reducing fever in many patients. This study aimed to investigate the role of clinical pharmacist interventions in the rational and appropriate use of intravenous paracetamol in surgical patients and the impact of this rational use on hospital costs. A case-control study was conducted on 794 patients (400 in the intervention group and 394 in the control group). The appropriate and rational use of the drug was compared between baseline and post-intervention in the intervention group and between the two groups. The result showed a significant reduction in dispensed IV paracetamol vials after the pharmaceutical intervention (4,151 vials recovered by the intervention), which led to a reduction in the cost (8,302 USD reduction in the total cost). There was a significant reduction in the dose of IV paracetamol, use with or without adjunctive opioid analgesics, frequency of administration, duration of intravenous paracetamol use, daily max exceeding 4 g, and concomitant use with oral paracetamol after applying the clinical pharmacist intervention. In conclusion, the clinical pharmacist plays a vital role in various aspects of healthcare; clinical pharmacist involvement positively impacts the patient’s management plan by improving the optimal and rational use of intravenous paracetamol and decreasing hospital costs.

Polycystic ovary syndrome (PCOS) is a prevalent endocrinopathy that affects 5-10% of women during their reproductive age. Recent research suggests a potential link between autoantibodies and PCOS development. The current study aimed to investigate the relationship between autoantibodies and PCOS. One hundred and fifty female patients suffered from PCOS aged between 20 and 35 years participated in this study as matched with healthy control. The result showed a significantly higher concentrations of anti-thyroid peroxidase (TPO) and anti-thyroglobulin (TG) autoantibodies in the patients compared to the healthy control group. Moreover, the concentrations of IgM and IgG for anti-cardiolipin (ACL) were significantly higher in the patients than in the control group. These increments in ACL antibodies in patients suggested a risk factor for PCOS. Conversely, no significant correlation was found in case of β-2 glycoprotein I (β2GPI) antibodies and lupus in patients. Serum amyloid A (SAA) and high-sensitivity C-reactive protein (hs-CRP) were significantly higher in patients. Procalcitonin (PCT) was also highly significant in patients compared to the controls. Lastly, the concentration of total IgG antibodies was significantly higher in patients than in controls. In conclusion, high concentrations of autoantibodies in patients suggest a risk factor and positive associations with PCOS in females. [ J Adv Biotechnol Exp Ther 2024; 7(1.000): 147-156]

The small island nations, territories, and states dotting the Pacific are among the most disproportionately affected populations worldwide in the face of climate change. Sea level rise coupled with increased tropical storms contribute to seawater incursion, flooding, personal injury, trauma, and death. They face an existential threat due to the consequences of global warming, specifically ice melt resulting in sea level rise, repercussions for which they are not historically culpable. Along with these environmental threats, Pacific Island communities are further burdened with high rates of adverse health conditions such as diabetes and obesity yet have limited healthcare resources due to minimal economic development. The Republic of the Marshall Islands (RMI) has one of the highest amputation rates worldwide due to advanced diabetes from lifestyle factors, limited healthcare infrastructure, financial disparities, and a culturally based hesitancy to seek medical attention, all of which lead to an increased incidence of diabetic complications. Challenges posed by non-communicable chronic diseases include diabetes and infectious diseases like tuberculosis, hepatitis, malaria, and Zika. Just as crucial to the narrative of the Marshallese people is a fundamental indigenous knowledge of their surroundings and an inseparable relationship to the environment, aquatic animals, and communities around them, denoting a holistic living system. Though the outlook is precarious, solutions centering on lifestyle interventions that are informed by Indigenous cultural strengths can provide a responsive framework and a ray of hope, offering potential solutions to these two. This short perspective highlights the RMI as a case study of the challenges the Pacific Island nations bear, from a legacy of annexation to the modern threat of climate change, compounded by health disparities.

Background: Esophageal Squamous Cell Carcinoma (ESCC) contributes to the global burden of disease. Conventional treatments such as surgical resection and chemotherapy offer limited long-term survival rates. Recently, immunotherapies targeting PD-1 have shown promise in other cancers, but their efficacy in ESCC remains unclear. Methods: The 31 studies eligible for this study included a total of 10,681 patients who were subjected to immunotherapy, either alone or in combination with traditional chemotherapy. A comprehensive search was conducted on September 1, 2023, across databases including CENTRAL, PubMed, MEDLINE, Web of Science, Embase, and Scopus. Results: For OSR, results indicate a significantly improved survival at different time points (6, 12, and 24 months), with an odds ratio of 0.636 (95 % CI 0.595–0.680; Z = −13.292; p

Background: Soft liners in dentures play a crucial role in enhancing patient comfort and preventing tissue irritation especially for patients with resorbed ridges. However, microbial colonization presents a challenge to their long-term effectiveness, particularly Candida albicans, leading to conditions like denture-induced stomatitis. Objective: To evaluate the antimicrobial efficacy and mechanical properties of heat cured soft liners incorporating plant extracts from Olea europaea and Ficus carcia, individually and synergistically. Patients and Methods: Extracts were obtained through Soxhlet extraction, and their antimicrobial activity against Candida albicans was determined using the broth microdilution method. Soft liner specimens were prepared with varying concentrations of the extracts and subjected to disk diffusion tests, shore A hardness measurements, and peel bond strength tests. Statistical analysis involved the use of one-way ANOVA and Dunnett tests. Results: Results demonstrated significant antimicrobial activity, with the synergistic mixture exhibiting the highest inhibition zone against Candida albicans. Moreover, the addition of such extracts led to increased shore A hardness, with the highest levels recorded for synergistic groups. The extracts also displayed a significant decrease in peel bond strength, indicating potential challenges in adhesive properties. These findings suggest that while individual extracts show promise in antimicrobial efficacy and mechanical reinforcement of soft liners, their combination may lead to compromised adhesive properties. Conclusion: The study contributes valuable insights into the development of antimicrobial soft liners reinforced with Olea europaea and Ficus carcia extracts, advancing dental materials towards improved patient outcomes and enhanced oral health.

Abstract Background Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. Case presentation Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. Conclusions The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.

Resource consumption in the construction industry is expected to increase globally in the coming years. Additionally, construction and demolition waste (CDW) remains a significant priority within numerous global policies due to its vast volume and the inefficiencies in its management. This situation results in substantial environmental repercussions, primarily due to the low rates of material recovery in the manufacturing processes for new building materials. In response, the concept of the circular economy (CE) emerges as a promising solution across various sectors. CE promotes more resource- and energy-efficient practices, reducing waste generation and mitigating the environmental impacts associated with product life cycles while also unlocking potential economic opportunities. The primary aim of this study is to identify and assess the design practices influencing the adoption of CE principles within the Italian architectural, engineering, and construction (AEC) sector. The study’s main contribution lies in a survey of 77 Italian designers to explore the core strategies driving the development of comprehensive circular approaches. This investigation seeks to understand the constraints and opportunities for CE implementation. The findings will assist in decision-making, inform policy, promote literacy around the CE topic, enable new quality standards, and serve as a baseline reference for businesses regarding sustainability investment indexes and markets.

Background/Objectives: Infective prosthesis endocarditis (IE) following transcatheter aortic valve implantation (TAVI) presents significant management challenges, marked by high mortality rates. This study reviews our center’s experience with surgical interventions for IE in patients post-TAVI, focusing on outcomes, challenges, and procedural complexities, and providing an overview of the limited literature surrounding this subject. Methods: This study was executed as a comprehensive retrospective analysis, targeting the clinical outcomes of surgical treatment in patients presenting with PVE following TAVI procedures at our institution. From July 2017 to July 2022, we identified five patients who had previously undergone transfemoral transcatheter aortic valve implantation and were later diagnosed with PVE needing surgery, strictly adhering to the modified Duke criteria. Results: All surgical procedures were reported successful with no intra- or postoperative mortality. Patients were predominantly male (80%), with an average age of 76 ± 8.6 years, presenting mostly with dyspnea (NYHA Class II). The mean follow-up was between 121 and 1973 days, with outcomes showing no occurrences of stroke, myocardial infarction, or major bleeding. One patient expired from unrelated causes 3.7 years post-surgery. The operative and postoperative protocols demonstrated effective disease management with enhanced survival and minimal complications. Conclusions: The surgical treatment of IE following TAVI, though challenging, can be successfully achieved with careful patient selection and a multidisciplinary approach. The favorable outcomes suggest that surgical intervention remains a viable option for managing this high-risk patient group. Our study also highlights the scarce literature available on this topic, suggesting an urgent need for more comprehensive research to enhance understanding and improve treatment strategies. Future studies with larger cohorts are needed to further validate these findings and refine surgical strategies for this growing patient population.

Abstract Recent advancements have been made in the development of cell-based in-vitro neuronal networks, or organoids. In order to better understand the network structure of these organoids, a super-selective algorithm has been proposed for inferring the effective connectivity networks from multi-electrode array data. In this paper, we apply a novel statistical method called spectral mirror estimation to the time series of inferred effective connectivity organoid networks. This method produces a one-dimensional iso-mirror representation of the dynamics of the time series of the networks which exhibits a piecewise linear structure. A classical change point algorithm is then applied to this representation, which successfully detects a change point coinciding with the neuroscientifically significant time inhibitory neurons start appearing and the percentage of astrocytes increases dramatically. This finding demonstrates the potential utility of applying the iso-mirror dynamic structure discovery method to inferred effective connectivity time series of organoid networks.

This study addressed concerns related to increased percentages of damaged and re-worked production, heightened demand for factory products, and lack of awareness of the approved Sigma (σ) level during manufacturing, and associated deviations in the manufacturing process. The primary research problem was to assess the manufacturing process's stability and capability to consistently produce conical filters that meet required specifications. The study followed a sample-based approach, where twenty samples, each containing four observations, were collected continuously over a period of seven days. For each sample, the mean (X ̅) and range (R) were calculated. The mean X-Double bar of 319.32 and the average range R-bar of 0.848 were obtained through data analysis. The main findings revealed that, on average, the manufacturing process was relatively close to the target value (X-Double bar = 319.32). However, the presence of several data points outside the control limits indicated potential variability in the process. The average range (R-bar = 0.848) highlighted certain variations in the manufacturing process, which might contribute to issues like damaged or re-worked production. The study identified the need for further investigation to determine the root causes of these variations, which could include machine malfunctions, material fluctuations, or operator errors. By addressing these concerns and reducing process variability, the factory can enhance product quality, decrease waste, and improve customer satisfaction. In conclusion, continuous process monitoring and improvement initiatives, such as Six Sigma, are essential for achieving greater process capability in conical filter manufacturing. This research contributes valuable insights into process performance and provides a basis for implementing corrective actions to ensure consistent product quality and meet customer demands.

Introduction: Diabetes mellitus (DM) is a group of metabolic diseases, characterized by hyperglycemia resulting damage in insulin secretion, insulin action, or both. In Iraq, this problem is considered a major problem in population and high frequency associated with Iraqi population. Type 2 DM (T2DM) is usually associated with chronic systemic inflammation and oral fungal infection. These complications are associated with genetic polymorphism. The development of oral fungal infection is potentiated by various pathogens that induce an immune response leading to the production of cytokines, such as interleukin (IL)-17. Recent studies showed that genetic factors influence IL-17 synthesis and polymorphisms in the IL-17 gene may affect IL-17 synthesis the aim of this study was to explore some association between genetic variants T2DM-associated single nucleotide polymorphisms (SNPs). Methods: This is a case − control study which consisted of 150 subjects (75 patients and 75 controls). Tetra-primer amplification refractory mutation system-polymerase chain reaction was used for genotypes and alleles detection of two SNPs. Results: The current study revealed that the GA genotype for IL17A (rs2275913 G/A) reported a slightly increased frequency in patients with 37 (49.4%), compared with healthy 25 (33.3%), with odds ratio (OR) value of 1.94. Furthermore, it showed that in IL17F rs763780 T/C, the CC genotype was a high frequency and significant between compared groups which accounted for 29 (38.7%) versus 8 (10.7%) with a high OR value of 5.2 (P < 0.001). Conclusion: This study revealed that GA genotype in IL17A and CC genotypes in IL17F were positively associated with T2DM patients, as well as positively effect on increased frequency of oral fungi infection.

INTRODUCTION: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we report on the clinical and molecular cytogenetic findings of a study on a Tunisian girl with the syndromic form of 46,XY DSD. METHODS: This case was a phenotypic female patient having several congenital anomalies including growth retardation. Karyotype, fluorescence in situ hybridization and array Comparative Genome Hybridization (array CGH) were performed. RESULTS: The proband exhibited a de-novo 46,X,der(Y) karyotype. Array CGH revealed a pathogenic 27.5Mb gain of an Xp21.2 chromosome segment leading to Xp functional disomy. No deletion was observed in the Y-chromosome. The duplicated region encompassed the NR0B1 (DAX1) and MAGEB genes, located within the dosage sensitive sex (DSS) reversal locus, known as promote genes responsible for human sex reversal and testis repression. The extra-dosage and interactions of these genes with different specific genes could result in the impairment of the male sex pathway. Over-dosage of KAL1 and IL1RAPL1 genes fall within the somatic features observed in the patient. DISCUSSION AND CONCLUSION: To the best of our knowledge, we report on the fourth case of Xp21.2-pter duplication within Xp;Yp translocation associated with XY GD. Our findings suggest that when duplicated, the NR0B1 and MAGEB genes could be a major cause of XY GD. Therefore, we emphasize the usefulness of a combined cytogenetic approach in order to provide an accurate genetic diagnosis for those patients having syndromic XY DSD in a clinical setting.

In recent years, the public AC electric vehicle (EV) charging network in the United Kingdom (UK) has experienced significant growth, more than doubling in size. However, there remains a significant lack of information regarding usage patterns, which hampers decision-making for future infrastructure planning. This study addresses this gap by presenting a statistical analysis based on data from nearly twelve thousand EV charging sessions. The data was collected from 595 AC charging sockets, with 85% operating at 7 kW and the remaining 15% at 22 kW, throughout the UK between April 2022 and July 2022. The analysis focuses on key factors that define the primary characteristics of the current public EV charging ecosystem, including utilisation rates, arrival-departure times, sojourn durations, energy transfer, and overstay durations. Several important observations are made, such as the variability in utilisation rates, factors influencing overstay periods, and peak demand periods. With two case studies, the potential role of smart charging in leveraging EV flexibility is shown by lowering and shifting the peak EV loads. The findings of this study have significant implications for the planning and efficient allocation of investments to expand the charging infrastructure. By gaining a better understanding of the current charging ecosystem, informed decisions can be made to optimise the usage and expansion of EV charging facilities.

Abstract Background Endoscopic papillary large balloon dilation (EPLBD) after sphincterotomy (EST) was introduced for the removal of large (≥ 10 mm) or multiple bile duct stones. This method combines the advantages of EST and EPLBD by increasing the efficacy of stone extraction while minimizing complications of EST and EPLBD when used alone. This prospective study aimed to compare between EPLBD with prior limited EST and sole sphnicterotomy for extraction of multiple and/or large common bile duct stones. Results Statistical analysis revealed insignificant difference between the studied groups as regards the presence of periamullary diverticulum (23% vs. 19%, P > 0.05) and the use of mechanical lithotripsy (4% vs. 9%, P > 0.05). The rates of overall and initial stone clearance were not significantly different between both groups [94% vs. 90%), P > 0.05; and 84% vs. 78%, P > 0.05, respectively]. The procedure-related pancreatitis and bleeding in EST/EPLBD group were lower compared to EST group (3% vs. 5%, P > 0.05; and 2% vs. 6%, P > 0.05, respectively). None of the studied groups’ patients died or developed procedure-related perforation or cholangitis. Conclusion Endoscopic large balloon dilation with prior limited sphincterotomy is an effective and safe endoscopic technique for removing multiple and/or large CBDSs.

Abstract Background Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. Methods To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed. Results Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients. Conclusion Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD.

Abstract Background Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects, and significant craniofacial dysmorphism. In this study, we present a molecular cytogenetic analysis of 2 Tunisian patients with corpus callosum malformations. Patient 1 was a boy of 3 years old who presented psychomotor retardation, microcephaly, behavioral problems, interventricular septal defect, moderate pulmonary stenosis, hypospadias, and total CCA associated with delayed encephalic myelination. Patient 2 was a boy of 9 months. He presented a facial dysmorphia, a psychomotor retardation, an axial hypotonia, a quadri pyramidal syndrome, a micropenis, and HCC associated with decreased volume of the periventricular white matter. Both the array comparative genomic hybridization and fluorescence in situ hybridization techniques were used. Results Array CGH analysis reveals that patient 1 had the greater deletion size (11,7 Mb) at 1q43. The same region harbors a 2,7 Mb deletion in patient 2. Here, we notice that the larger the deletion, the more genes are likely to be involved, and the more severe the phenotype is likely to be. In both patients, the commonly deleted region includes six genes: PLD5, AKT3, ZNF238, HNRNPU, SDCCAG8 and CEP170. Based on the role of the ZNF238 gene in neuronal proliferation, migration, and cortex development, we hypothesized that the common deletion of ZNF238 in both patients seems to be the most responsible for corpus callosum malformations. Its absence may directly cause CCM. In addition, due to their high expression in the brain, PLD5 and FMN2 could modulate in the CCM phenotype. Conclusion Our findings support and improve the complex genotype–phenotype correlations previously reported in the 1qter microdeletion syndrome and define more precisely the neurodevelopmental phenotypes associated with genetic alterations of several genes related to this pathology.

Infection with Helicobacter pylori (H. pylori) is a significant issue that affects gastrointestinal health on a global scale. It has been related to several severe side effects, including gastritis, peptic ulcers, and stomach cancer. Identifying reliable biomarkers for early detection and monitoring of H. pylori infections is crucial for improving patient outcomes. Our study aimed to analyze laboratory variables as potential biomarkers for detecting and evaluating H. pylori infections. To achieve this, we conducted retrospective research using information from 500 patients with and without H—pylori infection. C-reactive protein (CRP), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-alpha), vitamin D3 levels, alanine transaminase (ALT), and aspartate transaminase (AST) were among the laboratory variables we gathered and examined. Descriptive statistics and correlation analyses were used in our study. The findings of our study imply that CRP and IL-6 levels show potential as markers of the inflammatory response brought on by H. pylori infection. Additionally, we found that vitamin D3 deficiency may influence how infected patients' immune systems react to this pathogen. However, none of the characteristics under research or the TNF-alpha levels we found were significantly correlated with H. pylori infection. The conclusions drawn from our study offer important information on potential biomarkers for identifying and keeping track of H. pylori infections. We can ultimately improve patient outcomes and lessen the burden of sickness this pathogen brings by enhancing the detection and evaluation of H. pylori infections. More research is required to confirm.

This study introduces a novel deep-learning methodology that is customized to automatically diagnose Alzheimer’s disease (AD) through the analysis of MRI datasets. The process of diagnosing AD via the visual examination of magnetic resonance imaging (MRI) presents considerable challenges. The visual diagnosis of mild to very mild stages of AD is challenging due to the MRI similarities observed between a brain that is aging normally and one that has AD. The detection of AD with extreme precision is critical during its early stages. Deep-learning techniques have recently been shown to be significantly more effective than human detection in identifying various stages of AD, enabling early-stage diagnosis. The aim of this research is to develop a deep-learning approach that utilizes pre-trained convolutional neural networks (CNNs) to accurately detect the severity levels of AD, particularly in situations where the quantity and quality of available datasets are limited. In this approach, the AD dataset is preprocessed via a refined image processing module prior to the training phase. The proposed method was compared to two well-known deep-learning algorithms (VGG16 and ResNet50) using four Kaggle AD datasets: one for the normal stage of the disease and three for the mild, very mild, and moderate stages, respectively. This allowed us to evaluate the effectiveness of the classification results. The three models were compared using six performance metrics. The results achieved with our approach indicate an overall detection accuracy of 99.3%, which is superior to the other existing models.

Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilities. Our work aims to figure out a sound diagnostic strategy for XLI. Patients and methods We collected 8 patients with XLI, all males, from 3 unrelated Tunisian families from central Tunisia. Genetic diagnosis was conducted through a large panel of genetic techniques including: Sanger Sequencing, haplotype analysis of STR markers, MLPA analysis, FISH and array CGH. Results Direct Sanger sequencing of the STS gene showed the same deletion of 13 base pairs within the exon 4 in all patients resulting in a premature stop codon. However, all patients’ mothers were not carriers of this variant and no common haplotype flanking STS gene was shared between affected patients. Sequence alignment with reference human genome revealed an unprocessed pseudogene of the STS gene located on the Y chromosome, on which the 13 bp deletion was actually located. STS MLPA analysis identified a deletion of the entire STS gene on X chromosome for all affected patients. This deletion was confirmed by FISH and delineated by array CGH. Conclusion All our patients shared a deletion of the entire STS gene revealed by MLPA, confirmed by FISH and improved by array CGH. Geneticists must be aware of the presence of pseudogenes that can lead to XLI genetic misdiagnosis.

Background: Headaches are a major focus of public health efforts. Because stress and emotional disturbances play a role in various forms of headaches, emotion regulation can be thought of as a factor in adaptation and successful control of this illness. The effectiveness of cognitive emotion management strategies in women and men with migraine headaches, tension headaches, and healthy people was investigated in this study. Method: In the first six months of 2020, 60 patients with migraine tension headaches were studied in the neurology clinic of the Abdi Waluyo Hospital in Jakarta. Positive techniques (vision formation, positive refocus, positive appraisal, and planning) and negative strategies (self-blame, blaming others, rumination, and catastrophic perception and acceptance) were obtained in emotion regulation using the Emotion Regulation Questionnaire. Results: According to the findings, persons with migraines employ fewer positive techniques in the cognitive management of their emotions than people without migraines. Meanwhile, the findings revealed that there is a substantial difference in the usage of positive methods by females and males in both groups, with females employing more positive tactics. Conclusion: In conclusion, the findings of this study suggest that self-regulation is one component that can cause headaches in patients.

This research deals with integrating RE and CBC in the product design process. RE improves the product value based on evaluate the competition products, whereas CBC aims to use a process approach to define activities and prelates those activities to products or customers using the product’s Characteristics. Integrating RE and CBC together leads to the improvement of product value, an increase of customer satisfaction, and support of competitive advantage. In this study first, a conceptual model of integration of these two approaches is provided and then the implementation procedures in product design cycle are explained, and finally, the results got from implementing it in an Electronic Industries company are discussed.

Background: Psychomotor delay, epilepsy and dysmorphic features are clinical signs which are described in multiple syndromes due to chromosomal imbalances or mutations involving key genes implicated in the stages of Early Embryonic Development. In this context, we report a 10 years old Tunisian patient with these three signs. Our objective is to determine the cause of developmental, behavioral and facial abnormalities in this patient.Methods: We used banding cytogenetics (karyotype) and Array Comparative Genomic Hybridization (Array CGH) to this purpose.Results: The karyotype was in favor of a derivative of chromosome 7 in the patient and Array CGH analysis revealed a loss of genetic material in 7p22.3-p22.1 (4,56 Mb) with a gain at 8q24.23-q24 (9.20 Mb) resulting from maternal 7/8 reciprocal translocation. An in silico analysis of the unbalanced region was carried out and showed that the 7p22.3-p22.1 deletion contains eight genes. Among them, BRAT1 gene, previously described in several neurodevelopmental diseases, may be a candidate gene which absence could be correlated to the patient’s phenotype. However, the 8q24.23-q24 duplication could be involved in the phenotype of this patient.Conclusion: In this study, we report for the first time a 7p deletion/8q duplication in a patient with psychomoteur delay, epilepsy and facial dysmorphism. Our study showed that Array CGH still useful for delivering a conclusive genetic diagnosis for patients having neurodevelopmental abnormalities in the era of next-generation sequencing.

هدف البحث الى التعرف على اهم المهارات التدريسية الضرورية لدى الطالب المطبق في ادارة درس التربية الرياضية في المدارس الثانوية من وجهة نظر اعضاء هيأه التدريس في كلية التربية البدنية وعلوم الرياضة جامعة بغداد. واستخدم الباحث المنهج الوصفي بأسلوب المسح فضلاً عن استخدام مقياس المهارات التدريسية الذي عدلهُ الباحث لينسجم مع واقع البيئة التعليمية في العراق. وتمثلت عينة البحث بأعضاء هيئة التدريس والبالغ عددهم (100) والتي تم اختيارها بالطريقة العشوائية، واستخلص الباحث الاسس العلمية ليكون المقياس يتمتع بالمعايير العلمية وليكون جاهزاً لاعتمادهِ على عينة التطبيق. وتوصل الباحث الى مجموعة استنتاجات ومنها اختيار (13) مهارة من المهارات التدريسية للطالب المطبق من مجموع (22) مهارة، وتم اختيار المهارات التدريسية للطالب المطبق بما ينسجم مع التوجه الأكاديمي من حيث خصوصية التخصص العلمي العملي والنظري للتربية الرياضية. وأوصى الباحث بضرورة العمل على استخدام التكنلوجيا الحديثة في تعليم الطلبة الفعاليات الرياضية كافة من خلال عرض المقاطع الفيديوية، وبناء مقاييس معرفية تحصيلية للقوانين الخاصة للألعاب الرياضية والتي تسهم في تسجيل الطالب المطبق في دورات التحكيم التي تُقيمها الاتحادات الرياضية.

The most important topics that constitute the aesthetic and substantive aspect of the theatrical performance represented by the spatial environment of the presentation and the proposed virtual place that contains the technical and artistic elements of the presentation and highlights the strength of influence on it. In light of the above, the researchers divided the topic into four chapters. The first chapter contained (the methodological framework), which included the research problem with regard to the directing treatments between the directors in establishing or creating theatrical venue, the importance of the research and the aim of the research, and the limits of the research to conclude the chapter by defining the terms. The second chapter (the theoretical framework) was divided into two sections that dealt with in the first topic: (the concept of theatrical place), while the second topic came under the title (directive experiences of employing the place in the world theater), and previous studies and the results of the theoretical framework. The third chapter contains (Research procedures) include the research sample, which is a play (Passport), the research community, the reason for selecting the sample and analyzing the sample. While the fourth and final chapter came with (results and conclusions), and included the recommendations suggested by the researchers, as well as the proposals, and contained a list of sources

Abstract Background Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, Faisalabad histiocytosis and Familial Rosai–Dorfman disease (RDD). Herein, we report five new patients from a single family who present with phenotypes that associate features of H syndrome and Familial Rosai–Dorfman disease. Methods We investigated the clinical, biochemical, histopathological and molecular findings in five Tunisian family members' diagnosed with Familial RDD and/or H syndrome. The solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3) gene was screened for molecular diagnosis using direct Sanger sequencing. Results Genetic analysis of all affected individuals revealed a previously reported missense mutation c.1088 G > A [p.Arg363Gln] in exon 6 of the SLC29A3 gene. Four affected members presented with clinical features consistent with the classical H syndrome phenotype. While their cousin’s features were in keeping with Familial Rosai–Dorfman disease diagnosis with a previously undescribed cutaneous RDD presenting as erythematous nodular plaques on the face. This report underlines the clinical variability of SLC29A3 disorders even with an identical mutation in the same family. Conclusion We report a rare event of 5 Tunisian family members' found to be homozygous for SLC29A3 gene mutations but showing a different phenotype severity. Our study reveals that despite a single mutation, the clinical expression of the SLC29A3 disorders may be significantly heterogeneous suggesting a poor genotype–phenotype correlation for the disease.

Abstract Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we carried out a molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was a boy of 1-year-old, presented a typical WHS phenotype while patient 2, is a boy of 2 days presented an hypospadias, a micropenis and a cryptorchidie in addition to the typical WHS phenotype. Both the array comparative genomic hybridization and fluorescence in situ hybridization techniques were used. Results Results of the analysis showed that patient 2 had a greater deletion size (4.8 Mb) of chromosome 4 than patient 1 (3.4 Mb). Here, we notice that the larger the deletion, the more genes are likely to be involved, and the more severe the phenotype is likely to be. If we analyze the uncommon deleted region between patient1 and patient 2 we found that the Muscle Segment Homeobox (MSX1) gene is included in this region. MSX1 is a critical transcriptional repressor factor, expressed in the ventral side of the developing anterior pituitary and implicated in gonadotrope differentiation. Msx1 acts as a negative regulatory pituitary development by repressing the gonadotropin releasing hormone (GnRH) genes during embryogenesis. We hypothesized that the deletion of MSX1 in our patient may deregulate the androgen synthesis. Conclusion Based on the MSX1 gene function, its absence might be indirectly responsible for the hypospadias phenotype by contributing to the spatiotemporal regulation of GnRH transcription during development.

Background: Visual disorders have been reported to be higher among children with intellectual disability (ID) than among their peers without special needs; however, prevalence data on visual problems in children in Saudi Arabia are scarce. Aims: The aim of this study is to report the prevalence and causes of undiagnosed, correctable visual impairment in children with ID. Materials and Methods: A cross-sectional study of students enrolled in special educational needs schools in the western region of Saudi Arabia in April 2018. Teller visual acuity (VA) assessment and refractive errors were noted. Participants with mild to profound ID underwent detailed ophthalmologic examinations, including cycloplegic refraction, full orthoptic workup, biomicroscopy, and funduscopy. Results: A total of 61 students participated in this study. Ocular findings in decreasing prevalence were as follows: Subnormal VA (n = 41, 67.2%), refractive errors (n = 31, 51.7%), fundus anomalies (n = 13, 22%), significant strabismus (n = 9, 14.8%), abnormal head posture (n = 8, 13.3%), nystagmus (n = 3, 4.9%), anterior segment abnormality (n = 3, 4.9%), and extraocular motility abnormality (n = 2, 3.3%). Astigmatism was found in 22 cases (36.7%), followed by hyperopia (n = 13, 21.7%), myopia (n = 10, 16.7%), and anisometropia (n = 5, 8.3%). Students with syndromic ID had significantly more moderate-to-severe subnormal VA (P < 0.001) and myopic shift on cycloplegic refraction (P = 0.014 right eyes and P = 0.004 left eyes) than those with nonsyndromic ID. Conclusions: A considerable proportion of ID children have significant visual disorders. This emphasizes the need for adequate diagnostic and therapeutic national eye care services for children with ID.

تضمنت اهمية البحث في تسليط الضوء على محددات اقتصاديات الرياضة (الاستثمار والتسويق والاحتراف) لدى الاندية الرياضية والتي ستعود بالفائدة لدى ادارات الاندية الرياضية في تدفق مصادر التمويل المتعددة، وتضمنت مشكلة البحث اعتماد الاندية الرياضية على التمويل الحكومي لمواجهة محددات اقتصاديات الرياضة كونها اندية استهلاكية لم تسعفها البنى التحتية والمزيج التسويق وبورصة اللاعبين من تحقيق بعض التدفقات المالية المضافة. وعلية سيُجيب الباحثان على اسئلة البحث المتمثلة هل توجد فروقات بين اعضاء الهيئات الادارية للأندية الرياضة في تحقيق اقتصاديات الرياضة لمحددات معينة (الاستثمار والتسويق والاحتراف) وفقاً لمتغير التحصيل الدراسي؟ وتضمن هدف البحث في التعرف على فاعلية اداء الهيئات الادارية في الاندية الرياضية في تحقيق احدى مجالات اقتصاديات الرياضة وفقاً لمتغير التحصيل الدراسي. وتمثل مجتمع البحث وعينتهُ جميع اعضاء الهيئات الادارية للأندية الرياضية المشاركة في بطولة الدوري الممتاز لكرة القدم في العراق للموسم الرياضي 202-2021 والبالغ عددهم (192) وتمثلت عينة البناء (119) عضواً وعينة التقنين (152) عضواً وعينة التطبيق (182) عضوا واستبعاد (10) اعضاء للتجربة الاستطلاعية لغرض التعرف على الصعوبات والمعوقات التي تواجه الباحثان او عينة البحث في الاستجابة على المقياس ومعرفة الوقت المستغرق للإجابة وهل توجد فقرات غير واضحة تحتاج الى تفسير من قبل الباحثان، وبعد استكمال كل هذه الاجراءات من بناء وتقنين وتطبيق المقياس قام الباحثان باستخدام الوسائل الاحصائية المناسبة وفقاً لبرنامج (SPSS) وتحصل الباحثان على النتائج والتي تمثل وجود فروق احصائية لعينة التحصيل الدراسي لحملة درجة الدكتوراه وقدم الباحثان مجموعة من التوصيات والاستنتاجات.

Nutritional assessment is essential in the evaluation of individuals’ health status. this study seeks to develop and validate a food frequency questionnaire (FFQ) that can be used as a nutritional assessment tool in epidemiological studies. a stratified random sampling enrolled sixty-five participants from Baghdad university college of medicine. participants were asked to fill a four days food upon which the questionnaire was developed. the participants were asked to fill the questionnaire based on their food intake in the last year. the data was entered using a food application, and the data source for the food nutritional values was obtained from different food composition tables. the serving size was assessed based on the Canadian nutritional society guidelines. the validation and reliability of the questionnaire were evaluated by comparing food intake of the records and the questionnaires using paired mean difference and Pearson correlation coefficient. the energy was adjusted using the nutrient density method. the mean difference between the records and questionnaire was 151.3 kcal, 7.61, 10.45, 10.24 gram for energy, fat, carbohydrate, and protein, respectively. the correlation coefficient between the record and the questionnaire was 0.829, 0.583, 0.323, and 0.547 for energy, fat, carbohydrate, and protein, respectively. in conclusion, this is the first valid food frequency questionnaire that was shown to be valid and reliable in providing a nutritional assessment of dietary intake in Iraq. it requires more efforts to be considered as a national tool for dietary assessment.

A simple and reliable method has been developed using chelating polymeric adsorbent (PSAHSB) to preconcentration of trace amount of Ni(II) ions from aqueous solutions under static loading conditions, and their determination by Ultraviolet and visible (UV–Vis) absorption spectroscopy. The influences of some analytical adsorption parameters, such as pH, temperature and contact time, the ionization constants of chelating groups in the adsorbent and desorption process were investigated. Maximum adsorption ≥98% was achieved at pH 3–7 after 20 min of contact time and the relative standard-deviation values were ≤5%. Adsorbed metal ions have been desorbed with 10 mL of 2 M HCl acid with the detection limit of 0.0157 μg m−1. The Langmuir and Freundlich isotherm equations were used to describe adsorption behavior of the system at different temperatures. Kinetic and thermodynamic behavior of the adsorbent for Ni(II) ion preconcentration was also studied. The possible adsorption mechanism of Ni (II) ions onto modified adsorbent is also discussed. This method was applied efficiently to remove Ni (II) ions from environmental water samples.

Abstract As sustainable energy becomes a major concern for modern society, renewable and clean energy systems need highly active, stable, and low-cost catalysts for the oxygen evolution reaction (OER). Mesoporous materials offer an attractive route for generating efficient electrocatalysts with high mass transport capabilities. Herein, we report an efficient hard templating pathway to design and synthesize three-dimensional (3-D) mesoporous ternary nickel iron nitride (Ni3FeN). The as-synthesized electrocatalyst shows good OER performance in an alkaline solution with low overpotential (259 mV) and a small Tafel slope (54 mV dec−1), giving superior performance to IrO2 and RuO2 catalysts. The highly active contact area, the hierarchical porosity, and the synergistic effect of bimetal atoms contributed to the improved electrocatalytic performance toward OER. In a practical rechargeable Zn–air battery, mesoporous Ni3FeN is also shown to deliver a lower charging voltage and longer lifetime than RuO2. This work opens up a new promising approach to synthesize active OER electrocatalysts for energy-related devices.

Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods In this study, we report on clinical and cytogenetic characterization of two new cases involving 17p13.3 and 3p26 chromosomal regions in two sisters with familial history of lissencephaly. Fluorescent In Situ Hybridization and array Comparative Genomic Hybridization were performed. Results A deletion including the critical region of the Miller-Dieker syndrome of at least 2,9 Mb and a duplication of at least 3,6 Mb on the short arm of chromosome 3 were highlighted in one case. The opposite rearrangements, 17p13.3 duplication and 3p deletion, were observed in the second case. This double chromosomal aberration is the result of an adjacent 1:1 meiotic segregation of a maternal reciprocal translocation t(3,17)(p26.2;p13.3). Conclusions 17p13.3 and 3p26 deletions have a clear range of phenotypic features while duplications still have an uncertain clinical significance. However, we could suggest that regardless of the type of the rearrangement, the gene dosage and interactions of CNTN4, CNTN6 and CHL1 in the 3p26 and PAFAH1B1, YWHAE in 17p13.3 could result in different clinical spectrums.

Background: Keratoconus (KC) is a non-inflammatory disease occur to the cornea and cause it to be thin and progressively bulge it into a cone shape which result to blurred vision secondary to irregular astigmatism, frequently eyeglass changing and increase the sensitivity to the bright light, occur usually at second decade of life and stops progressive after fourth decade of life. keratoconus is unknown in aetiology but is a multifactorial disease in causes which divided into genetic and environmental factors, the genetic factors as if patient under ethnic with high prevalence and family history with keratoconus or Atopy. Aim: to assess the general population awareness regarding keratoconus in Aseer region, southern of Saudi Arabia. Methodology: A descriptive cross-sectional approach was used targeting all population in Aseer region. The study was conducted during the period from January 2019 to May 2020. Data were collected using structured questionnaire included person's socio-demographic data, Participants' Participants' awareness regarding KC. The questionnaire was uploaded online using social media platforms. Results: The study included 638 participants who completed the study questionnaire with mean age of 36.8 ± 11.1 years. Exact of 331 (51.9%) of the participants were males. University level of education was reported by 424 participants (66.5%). Fifty-nine participants (9.2%) reported that they had keratoconus. Conclusions & Recommendations: In conclusion, the study revealed that public awareness in Aseer region regarding keratoconus was moderately poor with defect regarding treatment modalities and its consequences.

Background & Aims: Necrotizing enterocolitis (NEC) is a devastating disease of premature infants characterized by Toll-like receptor 4 (TLR4)-dependent intestinal inflammation and enterocyte death. Given that necroptosis is a proinflammatory cell death process that is linked to bacterial signaling, we investigated its potential role in NEC, and the mechanisms involved. Methods: Human and mouse NEC intestine were analyzed for necroptosis gene expression (ie, RIPK1, RIPK3, and MLKL), and protein activation (phosphorylated RIPK3). To evaluate a potential role for necroptosis in NEC, the effects of genetic (ie, Ripk3 knockout or Mlkl knockout) or pharmacologic (ie, Nec1s) inhibition of intestinal inflammation were assessed in a mouse NEC model, and a possible upstream role of TLR4 was assessed in Tlr4-deficient mice. The NEC-protective effects of human breast milk and its constituent milk oligosaccharides on necroptosis were assessed in a NEC-in-a-dish model, in which mouse intestinal organoids were cultured as either undifferentiated or differentiated epithelium in the presence of NEC bacteria and hypoxia. Results: Necroptosis was activated in the intestines of human and mouse NEC in a TLR4-dependent manner, and was up-regulated specifically in differentiated epithelium of the immature ileum. Inhibition of necroptosis genetically and pharmacologically reduced intestinal–epithelial cell death and mucosal inflammation in experimental NEC, and ex vivo in the NEC-in-a-dish system. Strikingly, the addition of human breast milk, or the human milk oligosaccharide 2 fucosyllactose in the ex vivo system, reduced necroptosis and inflammation. Conclusions: Necroptosis is activated in the intestinal epithelium upon TLR4 signaling and is required for NEC development, and explains in part the protective effects of breast milk. Keywords: Pediatrics, Premature, Organoid Model

Lynch syndrome is a heritable condition caused by a heterozygous germline inactivating mutation of the DNA mismatch repair (MMR) genes, most commonly the MLH1 gene. However, one third of the identified alterations are missense variants, for which the clinical significance is unclear in many cases. We have identified three MLH1 missense alterations (p.(Glu736Lys), p.(Pro640Thr) and p.(Leu73Pro)) in six individuals from large Tunisian families. For none of these alterations, a classification of pathogenicity was available, consequently diagnosis, predictive testing and targeted surveillance in affected families was impossible. We therefore performed functional laboratory testing using a system testing stability as well as catalytic activity that includes clinically validated reference variants. Both p.(Leu73Pro) and p.(Pro640Thr) were found to be non-functional due to severe defects in protein stability and catalytic activity. In contrast, p.(Glu736Lys) was comparable to the wildtype protein and therefore considered a neutral substitution. Analysis of residue conservation and of the structural roles of the substituted residues corroborated these findings. In conjunction with the available clinical data, two variants fulfil classification criteria for class 4 "likely pathogenic". The findings of this work clarify the mechanism of pathogenicity of two unclear MLH1 variants and enables predictive testing and targeted surveillance in members of carrier families worldwide.

Abstract Background Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1. Methods Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype‐phenotype correlations. The clinical diagnosis was based on the criteria defined by the international expert consensus of BWS. Molecular study of 11p15.5 methylation status was assessed using methylation‐specific‐multiplex ligation probe amplification (MS‐MLPA). Results Patients were aged 12 months and 3 months and fulfilled the clinical score of BWS. MS‐MLPA showed molecular alterations consisting of loss of methylation in IC2 (IC2‐LOM) at the maternal allele for one patient and a mosaic UPD(11)pat for the second patient in whom follow‐up at 6months revealed adrenocortical carcinoma (ACC) with low grade of malignancy. Molecular subtypes guide the follow‐up and tumor surveillance, our major concern. Conclusion We have to take into account the psychological impact of a possible tumor whatever the underlying mechanism is. Nevertheless, the tumor risk remains high for UPD(11)pat. Our study extended the phenotype of BWS with absence of macrosomia in Tunisian patients, contrasting with literature, and added a supplementary case of ACC in the tumor spectrum of BWS patients with UPD(11)pat.

Background: Thalassemia is an autosomal recessive disease common in Iraq with a prevalence of 35.7 per 100000. Beta thalassemia major is a life-threatening condition with many complications which if not managed could cause death at an early age. This cross-sectional study aimed to assess the awareness of parents/caregivers of children with beta-thalassemia major and intermedia, as enhancing awareness is the first and the most important step in all prevention programs Methods: We conducted this study in three thalassemia centers (two in Baghdad and one in Al-Nasiriyah) from July 20th, 2017 to September 20th, 2017. This study involved 193 parents of thalassemic children under the age of 15 who come to the centers frequently for blood transfusion. The study assessed the awareness questionnaire through interviews. Data analysis was performed using the Statistical Package for the Social Sciences program (SPSS) version 24. Results: We found that awareness was low in many aspects. The highest knowledge was for foods that thalassemic patients shouldn't eat and for the early manifestation signs in thalassemic patients which is 94.8% and 86%, respectively. The lowest knowledge was for the consideration of human immune deficiency virus as a transfusion-transmitted disease and for the chance of having an affected child when both parents are carriers which were 37.3% and 11.9%, respectively. Conclusion: Parents have low awareness of thalassemia in many aspects. Thalassemia care centers may need to provide more education for the parents of patients with thalassemia.

Abstract Background Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The aim of this study is to characterize the sSMC derived from chromosome 18 by Fluorescence in situ hybridization (FISH) and Array Comparative Genomic Hybridization (aCGH). Results Nine children with dysmorphic features have been investigated. They have these features in common: a triangular face, low-set ears, a large mouth with a thin upper lip, and a horizontal palpebral fissure. Epicanthus and strabismus were present in two patients. In addition, we have noticed microcephaly and mental and/or developmental delay with low birth weight. However, two patients had standard birth weight; one patient had hypospadias; two had skin problems; and three showed different congenital heart defects. One patient had corpus callosum hypoplasia. Systematic karyotype analysis revealed a de novo supernumerary chromosome. Array CGH showed a gain in copy number on the short arm of chromosome 18 in the nine cases. In one case, the sSMC seemed to be in mosaic. The breakpoints of the marker were identified using aCGH and FISH. Thus, the sSMC led to 18p tetrasomy with approximately 14 Mb lengths, between 364344 and 14763575 based on the human genome version 18. Conclusions These results have been completed by FISH in order to ascertain the shape of the sSMC. Our results confirm the uniqueness and particularity of the iso18p syndrome on the phenotypic as well as on the genetic level.

A biosensor based on hemoglobin immobilized on screen-printed carbon electrode (SPCE) pre-electrodeposited with gold nanoparticles (AuNPs) was developed to measure hydrogen peroxide (H2O2) concentration. Cyclic voltammetry method was utilized for AuNPs electrodeposition process and characterized the Hb behaviour in the modified electrode. The highest electro active surface area (0.07 cm2) of working electrode in SPCE was obtained when the potential was swept (in electrodeposition experiment) from 0 to +1 V for 15 cycles in phosphate buffer solution (PBS) (pH 7) containing 0.1 nM AuNPs. Direct electrochemical of hemoglobin in the modified electrode showed quasi-reversible redox behaviour at −0.2 V and −0.3 V on forward and revers scan respectively, in PBS (pH 7) at scan rate 0.05 Vs−1 vs. Ag/AgCl. The modified electrode was used to measure hydrogen peroxide concentration with a linear response over 3 μM to 240 μM and a detection limit of 0.6 μM at −0.35 V. The apparent Michaelis-Menten constant value of Hb in the modified SPCE to measure H2O2 was calculated to be 235 μM with sensitivity of 0.918 AM−1 cm−2. The surface morphology of the SPCE and its modification were investigated using Atomic Force Microscope (AFM). As a result, the new modified biosensor exhibited a high sensitivity, good reproducibility and stability. Keywords: Hydrogen peroxide biosensor, Screen-printed carbon electrode, Gold nanoparticles, Hemoglobin direct electrochemistry

ObjectiveThe study aimed to evaluate the association between disease knowledge and medication adherence in patients with type 2 diabetes mellitus.MethodsA cross-sectional study was conducted for three months, in patients with type 2 diabetes who visited three community pharmacies located in Khobar, Saudi Arabia. Patients’ disease knowledge and their adherence to medications were documented using Arabic versions of the Michigan Diabetes Knowledge Test and the General Medication Adherence Scale respectively. Data were analyzed through SPSS version 23. Chi-square test was used to report association of demographics with adherence. Spearman’s rank correlation was employed to report the relationship among HbA1c values, disease knowledge and adherence. Logistic regression model was utilized to report the determinants of medication adherence and their corresponding adjusted odds ratio. Study was approved by concerned ethical committee (IRB-UGS-2019-05-001).ResultsA total of 318 patients consented to participate in the study. Mean HbA1c value was 8.1%. A third of patients (N = 105, 33%) had high adherence and half of patients (N = 162, 50.9%) had disease knowledge between 51% - 75%. A significantly weak-to-moderate and positive correlation (ρ = 0.221, p < 0.01) between medication adherence and disease knowledge was reported. Patients with >50% correct answers in the diabetes knowledge test questionnaire were more likely to be adherent to their medications (AOR 4.46, p < 0.01).ConclusionDisease knowledge in most patients was average and half of patients had high-to-good adherence. Patients with better knowledge were 4 to 5 times more likely to have high adherence. This highlights the importance of patient education and awareness regarding medication adherence in managing diabetes.

Background The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities (ID) and congenital abnormalities (CA) but are also thought to be responsible for unexplained recurrent miscarriage (RM). Such rearrangements can go unnoticed through conventional cytogenetic techniques and are undetectable even with high-resolution molecular cytogenetic techniques such as array comparative genomic hybridization (aCGH), especially when DNA of the stillbirth or families are not available. The aim of the study is to evaluate the rate of subtelomeric rearrangements in patients with RM. Materials and Methods In this cross-sectional study, fluorescent in situ hybridization (FISH), based on ToTelVysion telomeric probes, was undertaken for 21 clinically normal couples exhibiting a “normal” karyotype with at least two abortions. Approximately 62% had RM with a history of stillbirth or CA/ID while the other 38% had only RM. Results FISH detected one cryptic rearrangement between chromosomes 3q and 4p in the female partner of a couple (III:4) [46,XX,ish t(3;4)(q28-,p16+;p16-,q28+)(D3S4559+,D3S4560-,D4S3359+; D3S4560+, D4S3359- ,D4S2930+)] who presented a history of RM and family history of ID and CA. Analysis of the other family members of the woman showed that her sisters (III:6 and III:11) and brother (III:8) were also carriers of the same subtelomeric translocation t(3;4)(q28;p16). Conclusion We conclude that subtelomeric FISH should be undertaken in couples with RM especially those who not only have abortions but also have had at least one child with ID and/or CA, or other clinically recognizable syndromes. For balanced and cryptic anomalies, subtelomeric FISH still remains the most suitable and effective tool in characterising such chromosomal rearrangements in RM couples.

Background: Hailey-Hailey disease (HHD) is an autosomal dominant blistering skin disorder that manifests in the third to fourth decade of life. The ATP2C1 has been identified as the pathogenic gene of this disease since 2000. Materials and Methods: We report here a three generations Tunisian pedigree, where almost all males are severely affected and present with complete penetrance of HHD, while only one female shows a mild disease’s phenotype in her fourth decade. A molecular study using Whole exome sequencing and direct sequencing was performed to this family. Results: By whole exome sequencing and direct DNA sequencing, a novel nonsense mutation in ATP2C1 (c.2698A>T; p.Lys900Ter) was identified in all patients, supporting that alterations in ATP2C1 are causative of HHD. Unexpectedly, this mutation was found in one female who was initially not diagnosed for HHD. Our observations would be in line with incomplete penetrance and variable expressivity between male and female of this disease, or evidence for genetic modifiers. Conclusion: We report here a novel nonsense heterozygous mutation in ATP2C1 gene in 5 patients with HHD. Interestingly, one woman carries the nonsense ATP2C1 mutation but displays a mild phenotype of HHD. This could indicate a variation in pattern and expressivity between male and female developing HHD phenotype which should be considered when providing genetic counselling to family members carrying such mutations.

Infection with SARS-CoV-2, the virus responsible for the global COVID-19 pandemic, causes a respiratory illness that can severely impact other organ systems and is possibly precipitated by cytokine storm, septic shock, thrombosis, and oxidative stress. SARS-CoV-2 infected individuals may be asymptomatic or may experience mild, moderate, or severe symptoms with or without pneumonia. The mechanisms by which SARS-CoV-2 infects humans are largely unknown. Mouse hepatitis virus 1 (MHV-1)-induced infection was used as a highly relevant surrogate animal model for this study. We further characterized this animal model and compared it with SARS-CoV-2 infection in humans. MHV-1 inoculated mice displayed death as well as weight loss, as reported earlier. We showed that MHV-1-infected mice at days 7–8 exhibit severe lung inflammation, peribronchiolar interstitial infiltration, bronchiolar epithelial cell necrosis and intra-alveolar necrotic debris, alveolar exudation (surrounding alveolar walls have capillaries that are dilated and filled with red blood cells), mononuclear cell infiltration, hyaline membrane formation, the presence of hemosiderin-laden macrophages, and interstitial edema. When compared to uninfected mice, the infected mice showed severe liver vascular congestion, luminal thrombosis of portal and sinusoidal vessels, hepatocyte degeneration, cell necrosis, and hemorrhagic changes. Proximal and distal tubular necrosis, hemorrhage in interstitial tissue, and the vacuolation of renal tubules were observed. The heart showed severe interstitial edema, vascular congestion, and dilation, as well as red blood cell extravasation into the interstitium. Upon examination of the MHV-1 infected mice brain, we observed congested blood vessels, perivascular cavitation, cortical pericellular halos, vacuolation of neuropils, darkly stained nuclei, pyknotic nuclei, and associated vacuolation of the neuropil in the cortex, as well as acute eosinophilic necrosis and necrotic neurons with fragmented nuclei and vacuolation in the hippocampus. Our findings suggest that the widespread thrombotic events observed in the surrogate animal model for SARS-CoV-2 mimic the reported findings in SARS-CoV-2 infected humans, representing a highly relevant and safe animal model for the study of the pathophysiologic mechanisms of SARS-CoV-2 for potential therapeutic interventions.