Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear. Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis. Results: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing. Conclusion: This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of “ribosomopathies.”<p/

Effects of hospital facilities on patient outcomes after cancer surgery: an international, prospective, observational study

Background Early death after cancer surgery is higher in low-income and middle-income countries (LMICs) compared with in high-income countries, yet the impact of facility characteristics on early postoperative outcomes is unknown. The aim of this study was to examine the association between hospital infrastructure, resource availability, and processes on early outcomes after cancer surgery worldwide.Methods A multimethods analysis was performed as part of the GlobalSurg 3 study-a multicentre, international, prospective cohort study of patients who had surgery for breast, colorectal, or gastric cancer. The primary outcomes were 30-day mortality and 30-day major complication rates. Potentially beneficial hospital facilities were identified by variable selection to select those associated with 30-day mortality. Adjusted outcomes were determined using generalised estimating equations to account for patient characteristics and country-income group, with population stratification by hospital.Findings Between April 1, 2018, and April 23, 2019, facility-level data were collected for 9685 patients across 238 hospitals in 66 countries (91 hospitals in 20 high-income countries; 57 hospitals in 19 upper-middle-income countries; and 90 hospitals in 27 low-income to lower-middle-income countries). The availability of five hospital facilities was inversely associated with mortality: ultrasound, CT scanner, critical care unit, opioid analgesia, and oncologist. After adjustment for case-mix and country income group, hospitals with three or fewer of these facilities (62 hospitals, 1294 patients) had higher mortality compared with those with four or five (adjusted odds ratio [OR] 3.85 [95% CI 2.58-5.75]; p&lt;0.0001), with excess mortality predominantly explained by a limited capacity to rescue following the development of major complications (63.0% vs 82.7%; OR 0.35 [0.23-0.53]; p&lt;0.0001). Across LMICs, improvements in hospital facilities would prevent one to three deaths for every 100 patients undergoing surgery for cancer.Interpretation Hospitals with higher levels of infrastructure and resources have better outcomes after cancer surgery, independent of country income. Without urgent strengthening of hospital infrastructure and resources, the reductions in cancer-associated mortality associated with improved access will not be realised

صعوبات المحادثة باللغة الانجليزبة التي يواجهها طلاب التخصصات الطبية في جامعة القدس من وجهة نظرهم

This study aims to investigate English language speaking difficulties that face medical profession students at Al-Quds University from their perspective. The researcher used the descriptive method. A questionnaire was distributed to (102) junior undergraduate students in Faculty of Public Health at Al-Quds University. The questionnaire includes 26 items divided into 4 domains(Psychological Domain, Instructor Domain, Social domain, and Linguistic Domain). The researcher has reached into results that justified the hypotheses. The results show that most speaking difficulties that face medical students are due for all the domains of speaking problems ,especially to social domain that attributed to the lack of opportunities in meeting native speakers of the English language , lack of a chance to speak in the English outside the classroom, Over -crowded classes and feeling afraid when speaking English. The results also indicate that there are statistically significant differences at level (α≤0.05) attributed to the variable of specialization, where pharmacy is mostly affected than other specialization in English language speaking skill. On the bass of the main findings the researcher stated a number of recommendations: Increasing students' confidence by having them participate in discussions and presentations in English, encouraging instructors to use a variety of methods, encouraging universities and health science colleges to form partnerships with overseas universities, increasing Intensive college English subjects that improve vocabulary and grammar, training instructors and encouraging them to reinforce pharmacy students to use English as a second language

A Survey of Fast Flux Botnet Detection With Fast Flux Cloud Computing

A botnet refers to a set of compromised machines controlled distantly by an attacker. Botnets are considered the basis of numerous security threats around the world. Command and control (C&amp;C) servers are the backbone of botnet communications, in which bots send a report to the botmaster, and the latter sends attack orders to those bots. Botnets are also categorized according to their C&amp;C protocols, such as internet relay chat (IRC) and peer-to-peer (P2P) botnets. A domain name system (DNS) method known as fast-flux is used by bot herders to cover malicious botnet activities and increase the lifetime of malicious servers by quickly changing the IP addresses of the domain names over time. Several methods have been suggested to detect fast-flux domains. However, these methods achieve low detection accuracy, especially for zero-day domains. They also entail a significantly long detection time and consume high memory storage. In this survey, we present an overview of the various techniques used to detect fast-flux domains according to solution scopes, namely, host-based, router-based, DNS-based, and cloud computing techniques. This survey provides an understanding of the problem, its current solution space, and the future research directions expected.</p

Identification and characterization of bacteria isolated from patients with cystic fibrosis in Jordan

Background Notable emergence of multidrug-resistant bacteria has become increasingly problematic worldwide. Most patients with cystic fibrosis (CF) suffer from chronic persistent infections with frequent occurrence of acute exacerbations. Routine screening of bacterial strains, epidemiological characteristics, and resistance patterns are particularly useful for patient management and maintenance of infection control proceduresMethods In this study, 43 pharyngeal samples were taken from patients with CF. Microbiological bacterial culture and identification, antimicrobial susceptibility testings, biofilm formation, including minimum biofilm eradication concentration (MBEC) and PCR for detecting resistance genes were performed.Results All samples were positive for bacterial growth. The predominant species were Staphylococcus aureus (41.86%; n = 18) and Pseudomonas aeruginosa (39.53%; n = 17). 30% of isolated bacteria were multidrug-resistant, resisting high concentrations of tested antibiotics. Among the 42 biofilm-forming isolates, 23.8% (n = 10) were strong biofilm formers. The occurance of resistance genes varied with blaKPC detected in 71% (n = 17) of all Gram-negative isolates and mecA found in 61% (n = 11) of all S. aureus strains.Conclusions The majority of isolated bacteria were S. aureus and P. aeruginosa. The high frequency of antimicrobial resistance, the presence of resistance genes, and biofilm formation highlight the challenge in treatment and infection control measures in patients with CF.KEY MESSAGESStaphylococcus aureus and Pseudomonas aeruginosa are the most prevalent pathogens found in patients with CF in Jordan.Detection of antimicrobial resistance genes in patients with CF confirms that antimicrobial resistance patterns must always be monitored.Biofilm formation significantly increases the tolerance of bacteria to antimicrobial agents

Dynamic Multimedia Encryption Using a Parallel File System Based on Multi-Core Processors

Securing multimedia data on disk drives is a major concern because of their rapidly increasing volumes over time, as well as the prevalence of security and privacy problems. Existing cryptographic schemes have high computational costs and slow response speeds. They also suffer from limited flexibility and usability from the user side, owing to continuous routine interactions. Dynamic encryption file systems can mitigate the negative effects of conventional encryption applications by automatically handling all encryption operations with minimal user input and a higher security level. However, most state-of-the-art cryptographic file systems do not provide the desired performance because their architectural design does not consider the unique features of multimedia data or the vulnerabilities related to key management and multi-user file sharing. The recent move towards multi-core processor architecture has created an effective solution for reducing the computational cost and maximizing the performance. In this paper, we developed a parallel FUSE-based encryption file system called ParallelFS for storing multimedia files on a disk. The developed file system exploits the parallelism of multi-core processors and implements a hybrid encryption method for symmetric and asymmetric ciphers. Usability is significantly enhanced by performing encryption, decryption, and key management in a manner that is fully dynamic and transparent to users. Experiments show that the developed ParallelFS improves the reading and writing performances of multimedia files by approximately 35% and 22%, respectively, over the schemes using normal sequential encryption processing.</jats:p

Identification and characterization of bacteria isolated from patients with cystic fibrosis in Jordan

Notable emergence of multidrug-resistant bacteria has become increasingly problematic worldwide. Most patients with cystic fibrosis (CF) suffer from chronic persistent infections with frequent occurrence of acute exacerbations. Routine screening of bacterial strains, epidemiological characteristics, and resistance patterns are particularly useful for patient management and maintenance of infection control procedures In this study, 43 pharyngeal samples were taken from patients with CF. Microbiological bacterial culture and identification, antimicrobial susceptibility testings, biofilm formation, including minimum biofilm eradication concentration (MBEC) and PCR for detecting resistance genes were performed. All samples were positive for bacterial growth. The predominant species were Staphylococcus aureus (41.86%; n = 18) and Pseudomonas aeruginosa (39.53%; n = 17). 30% of isolated bacteria were multidrug-resistant, resisting high concentrations of tested antibiotics. Among the 42 biofilm-forming isolates, 23.8% (n = 10) were strong biofilm formers. The occurance of resistance genes varied with blaKPC detected in 71% (n = 17) of all Gram-negative isolates and mecA found in 61% (n = 11) of all S. aureus strains. The majority of isolated bacteria were S. aureus and P. aeruginosa. The high frequency of antimicrobial resistance, the presence of resistance genes, and biofilm formation highlight the challenge in treatment and infection control measures in patients with CF.KEY MESSAGESStaphylococcus aureus and Pseudomonas aeruginosa are the most prevalent pathogens found in patients with CF in Jordan.Detection of antimicrobial resistance genes in patients with CF confirms that antimicrobial resistance patterns must always be monitored.Biofilm formation significantly increases the tolerance of bacteria to antimicrobial agents. Staphylococcus aureus and Pseudomonas aeruginosa are the most prevalent pathogens found in patients with CF in Jordan. Detection of antimicrobial resistance genes in patients with CF confirms that antimicrobial resistance patterns must always be monitored. Biofilm formation significantly increases the tolerance of bacteria to antimicrobial agents.</p