In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies- the most widespread inherited disorders worldwide. Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE. Several of these mutations are deleterious and result in moderate to severe hemolytic anemia, with associated complications, requiring lifelong care and management. Even though many hemoglobinopathies result from single amino acid changes producing similar structural abnormalities, there are functional differences in the generated variants. Using in silico methods, we examined the genetic variations that can alter the expression and function of the HBB gene. Using a sequence homology-based Sorting Intolerant from Tolerant (SIFT) server we have searched for the SNPs, which showed that 200 (80%) non-synonymous polymorphism were found to be deleterious. The structure-based method via PolyPhen server indicated that 135 (40%) non-synonymous polymorphism may modify protein function and structure. The Pupa Suite software showed that the SNPs will have a phenotypic consequence on the structure and function of the altered protein. Structure analysis was performed on the key mutations that occur in the native protein coded by the HBB gene that causes hemoglobinopathies such as: HbC (E→K), HbD (E→Q), HbE (E→K) and HbS (E→V). Atomic Non-Local Environment Assessment (ANOLEA), Yet Another Scientific Artificial Reality Application (YASARA), CHARMM-GUI webserver for macromolecular dynamics and mechanics, and Normal Mode Analysis, Deformation and Refinement (NOMAD-Ref) of Gromacs server were used to perform molecular dynamics simulations and energy minimization calculations on β-Chain residue of the HBB gene before and after mutation. Furthermore, in the native and altered protein models, amino acid residues were determined and secondary structures were observed for solvent accessibility to confirm the protein stability. The functional study in this investigation may be a good model for additional future studies

Application of Artificial Intelligence (AI) in Records Management and Systems

The study aimed to clarify the concept of artificial intelligence and identify its potential roles in improving records management and systems, highlight its most prominent techniques that contribute to the effectiveness and efficiency of records management processes, identify the challenges and concerns facing the application of artificial intelligence techniques in records management and systems, and seek to find solutions and proposals. appropriate to address these fears and challenges. The study used the inductive approach by reviewing relevant scientific sources. The study reached several results, the most important of which is that artificial intelligence techniques such as machine learning, natural language processing, and image recognition can contribute significantly to improving the efficiency and effectiveness of records management in various fields. These technologies enable records to be classified more accurately, speed up search and retrieval processes, and analyze data in greater depth. And access to the most prominent challenges and concerns that must be addressed when applying artificial intelligence in records management. The most prominent of these are issues of privacy, security, and legal liability. The study presented many recommendations, the most important of which are: the need to provide an appropriate infrastructure to integrate artificial intelligence technology with records management, with the need to adopt innovative systems based on artificial intelligence to improve records management, and records management specialists must keep pace with developments in the field of artificial intelligence, with the recommendation to conduct more In-depth scientific studies on the application of artificial intelligence in records management

The Effect of Hepatitis C on Humans

The aim of the study is to know the effect of the hepatitis C virus on humans, how the virus is transmitted, what is the method of preventing it, and what treatment is used to alleviate the severity of the disease. The questionnaire was designed via the Google Drive application and distributed via the social networking application (WhatsApp), with complete transparency to the population targeted by the research. The city of Mecca, from the age of (25-55 years), where 600 questionnaires were distributed via social media application groups (WhatsApp) according to available conditions (distancing), and answers to 580 questionnaires were obtained

Global patient outcomes after elective surgery: prospective cohort study in 27 low-, middle- and high-income countries.

BACKGROUND: As global initiatives increase patient access to surgical treatments, there remains a need to understand the adverse effects of surgery and define appropriate levels of perioperative care. METHODS: We designed a prospective international 7-day cohort study of outcomes following elective adult inpatient surgery in 27 countries. The primary outcome was in-hospital complications. Secondary outcomes were death following a complication (failure to rescue) and death in hospital. Process measures were admission to critical care immediately after surgery or to treat a complication and duration of hospital stay. A single definition of critical care was used for all countries. RESULTS: A total of 474 hospitals in 19 high-, 7 middle- and 1 low-income country were included in the primary analysis. Data included 44 814 patients with a median hospital stay of 4 (range 2-7) days. A total of 7508 patients (16.8%) developed one or more postoperative complication and 207 died (0.5%). The overall mortality among patients who developed complications was 2.8%. Mortality following complications ranged from 2.4% for pulmonary embolism to 43.9% for cardiac arrest. A total of 4360 (9.7%) patients were admitted to a critical care unit as routine immediately after surgery, of whom 2198 (50.4%) developed a complication, with 105 (2.4%) deaths. A total of 1233 patients (16.4%) were admitted to a critical care unit to treat complications, with 119 (9.7%) deaths. Despite lower baseline risk, outcomes were similar in low- and middle-income compared with high-income countries. CONCLUSIONS: Poor patient outcomes are common after inpatient surgery. Global initiatives to increase access to surgical treatments should also address the need for safe perioperative care. STUDY REGISTRATION: ISRCTN5181700

Protein Stability Changes upon Mutations.

<p>Where, “WT” is the wild-type amino acid in the protein, “NEW” is the new amino acid after Mutation, “SVM2/DGG” is the stability (decrease/ increase), “RI” is the Reliability Index, and “T” is the temperature in celsius degrees.</p

RMSD and total energy of native structure (4HHB) and mutant modeled structures.

<p>The total energy of native structure (4HHB) after energy minimization is −334380.5 kJ/mol (score: 0.69) and before energy minimization it was 29644578.1 kJ/mol (score: −3.31).</p

Sequence homology-based results from Sorting Intolerant from Tolerant (SIFT) server for SNPs.

<p><b>a</b>) Predictions threshold for intolerance positions 1 through 100. <b>b</b>) Predictions threshold for intolerance positions 101 through 200. The type of amino acids in both figure are shown in color code i.e. Non polar (black), uncharged polar (green), basic (red), acidic (blue). Capital letters indicate amino acids appearing in the alignment, lower case letters result from prediction. ‘Seq Rep’ is the fraction of sequences that contain one of the basic amino acids. A low fraction indicates the position is either severely gapped or unalignable and has little information. Expect poor prediction at these positions.</p