TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.

Iron-refractory iron deficiency anemia (IRIDA) is considered an autosomal recessive iron deficiency anemia due to mutations in the transmembrane protease serine 6 (TMPRSS6) gene. Variations in iron parameters and a higher risk of iron deficiency have been linked to the TMPRSS6 mutations. Furthermore, human genome-wide association studies (GWAS) identified a common mutation (rs855791) linked to abnormal hematological parameters, highlighting the importance of the TMPRSS6 gene in the regulation of iron homeostasis. This is the first study to investigate TMPRSS6 gene mutation in six Saudi families of probands with iron deficiency anemia unresponsive to oral iron and partially responsive to parenteral iron administration. Each participant provided a vacutainer tube with three blood samples (2.5 ml each) and analyzed based on hematological, biochemical iron profiles, and followed by genotyping by PCR. The TMPRSS6 gene was amplified, sequenced, and analyzed in all probands and family members. Statistical analysis was done using SPSS and SHEsis software. Few functional mutations in these families were suggested (p.W73X, p.E523K and p.V736A). The proband of family 6 presented numerous hematological abnormalities upon initial consultation, including normocytic anemia accompanied by low Hb, normal MCV, low serum iron, low serum ferritin, and normal TIBC. While the p.W73X variant was only found in 2 families, the p.V736A variant was found in all examined Saudi families with IRIDA. Given the evidence outlined for these six cases, future genotype-phenotype correlation studies in a large number of IRIDA patients in Saudi Arabia may be very informative for patient management, in addition to increasing knowledge of TMPRSS6 function during development as well as factors in the regulation of TMPRSS6 and its effect on iron levels in the body.

Turnover-attachment motive of Saudi Arabia nursing workforce: A Cross-Sectional study.

AIM: This study aimed to explore the association of turnover-attachment motive with socio-demographic data among Saudi and foreign nurses in a hospital in the Eastern Province of Saudi Arabia. METHODS: A cross-sectional correlation study was conducted among n = 180 registered Saudi and foreign nurses working at a private tertiary hospital in the Eastern Province, Saudi Arabia. The turnover-attachment motive survey was used to evaluate the eight motivational forces. Data were analysed using JASP version 16 statistical software and Orange 3 version 3.26.0. The data were subjected to correlation analysis and multiple linear regression. RESULTS: Only 8% of participants were identified with a high intention to leave driven by alternative, behavioural, normative and constitutive forces. Younger healthcare workers tend to have higher intentions to quit the job; the 29-33 age group has a statistically significant negative effect, increasing intention to leave. It was found that those with 5-6 years of clinical experience at Dr. Sulaiman Al Habib Hospital, Al Khobar and no experience abroad had statistically significantly lower intention to leave. CONCLUSION: This study presented the factors influencing nursing staff to stay or leave work in a hospital in the Eastern Province of Saudi Arabia that can be a basis for reviewing existing policies and procedures to improve nurses' working conditions.

Estimated cost of treating hospitalized COVID-19 patients in Saudi Arabia.

The economic impact of the COVID-19 pandemic on global health systems is a major concern. To plan and allocate resources to treat COVID-19 patients and provide insights into the financial sustainability of healthcare systems in fighting the future pandemic, measuring the costs to treat COVID-19 patients is deemed necessary. As such, we conducted a retrospective, real-world observational study to measure the direct medical cost of treating COVID-19 patients at a tertiary care hospital in Saudi Arabia. The analysis was conducted using primary data and a mixed methodology of micro and macro-costing. Between July 2020 and July 2021, 287 patients with confirmed COVID-19 were admitted and their data were analyzed. COVID-19 infection was confirmed by RT-PCR or serologic tests in all the included patients. There were 60 cases of mild to moderate disease, 148 cases of severe disease, and 79 critically ill patients. The cost per case for mild to moderate disease, severe disease, and critically ill was 2003 USD, 14,545 USD, and 20,188 USD, respectively. There was a statistically significant difference in the cost between patients with comorbidities and patients without comorbidities (P-value 0.008). Across patients with and without comorbidities, there was a significant difference in the cost of the bed, laboratory work, treatment medications, and non-pharmaceutical equipment. The cost of treating COVID-19 patients is considered a burden for many countries. More studies from different private and governmental hospitals are needed to compare different study findings for better preparation for the current COVID-19 as well as future pandemics.

Knowledge, Attitude, and Behavior Toward Organ Donation and Transplantation Among Medical Students in the Eastern Province of Saudi Arabia.

BACKGROUND: Organ donation is an integral part of medical ethics worldwide, including Saudi Arabia. Although the Saudi community has a positive attitude toward the concept of organ donation and transplantation, several factors prevent people from agreeing to donate organs and tissues. This study aimed to explore and evaluate the knowledge and attitudes medical students in the Eastern Province of Saudi Arabia have toward organ donation and transplantation. METHODS: A cross-sectional study among 722 medical students in the Eastern Province. The questionnaire consisted of 3 parts: sociodemographic questions, organ donation and transplantation knowledge questions, and questions on attitudes toward organ donation and reasons for consenting or refusing to donate. RESULTS: Both men and women had positive attitudes toward organ donation. The level of knowledge of organ donation and related procedures did not differ significantly among men (13.07%) and women (13.60%) (P < .027). The motives for donation were the desire to help others (88.8%) (P = .02) and sympathy (59.8%). The main source of information on organ donation for respondents was television, followed by the internet and relatives and/or friends. CONCLUSIONS: While medical students are generally supportive of organ donation and transplantation, they may lack basic knowledge on organ donation. Due to lack of basic knowledge, they become hesitant to make the decision to donate. It is recommended that additional organ donation modules be included in the student curriculum to increase the knowledge of future health care providers. Most of the participants would not change their attitudes toward organ donation based on the Saudi government initiatives to register for the Saudi Center for Organ Transplantation organ donation program.

Attitudes and Practice of Health Care Providers Toward Cancer Screening: A Cross-sectional Multicenter Study, Saudi Arabia.

BACKGROUND: Screening is a cancer prevention measure for groups who are asymptomatic, and diagnosis is a medical test for groups who are symptomatic. The occupational privilege of health care providers (HCPs) is expected to play a positive role in cancer screening practices. Therefore, this study aimed to assess perceptions and personal attitudes of HCPs regarding their decision to screen for cancer in the Eastern Province of Saudi Arabia. DESIGN: A cross-sectional multicenter survey study was conducted. A well-designed and validated questionnaire was distributed to the HCPs at three tertiary hospitals in the Eastern Province of Saudi Arabia. RESULTS: Out of 900 health care providers who received the questionnaire, 372 completed it. Two-thirds, 247 (66.4%) of them were nurses and the rest were physicians and the mean age was 34.1 ± 7.1 years. Regardless of gender, profession, or age, the overall rate of belief in the importance of regular cancer screening was high; 91.4%. The number of participants who did not screen for colonoscopy was significantly higher than those who screened. The number of females in the age group of between 45 and 54 years who screened with mammography was significantly higher than non-screened. In a similar way, male HCPs above 54 years who got themselves screened for Prostate-Specific Antigen (PSA) were significantly higher than those who did not. CONCLUSIONS: Findings of the current research and existing evidence specifically for the Saudi community indicated a need to raise awareness, emphasizing the role of HCPs in motivating themselves, their families, and their patients to implement various cancer screening programs.

Psychosocial Impact of Sickle Cell Disease and Diabetes Mellitus on Affected Children and Their Parents in Khartoum State, Sudan.

This study aimed to assess the psychosocial impact of sickle cell disease (SCD) and diabetes mellitus on children and their parents in Sudan, and the relationship between socioeconomic status and psychosocial issues. A descriptive, cross-sectional study was conducted among n = 320 children aged 6-12 years, of whom n = 170 were diagnosed with SCD, n = 150 children with diabetes mellitus and their parents. The strengths and difficulties questionnaire (SDQ scale) was used to assess the psychosocial aspect of children. Depression, Anxiety, Stress Scale -21 Items (DASS 21) was used to assess the psychological well-being of the caregivers. Data on psychological problems of children with SCD showed that 66.5% had emotional symptoms, 18.2% had conduct problems and 19.4% hyperactivity. Data of parents showed that 45.9% of parents did not experience depression; 27.9% were moderately depressed group. Data on psychological problems among children with diabetes showed that 57.3% experienced emotional symptoms, conduct problems were close to the average among 66%. Data on psychological problems among parents of children with diabetes showed that 45.3% of parents did not experience depression; 22.7% belonged to the moderately depressed group. Psychosocial problems were common both among children and parents. More research is needed in the context of caring for a child with chronic diseases and the role of health care providers in adapting and mitigating psychological problems among both parents and children.

Effect of post-diagnosis exercise on depression symptoms, physical functioning and mortality in breast cancer survivors: A systematic review and meta-analysis of randomized control trials.

BACKGROUND: Cancer is the second leading cause of death worldwide. Breast cancer, the most common cancer found in women, affects 2.1 million women annually and has the highest number of cancer related deaths. The objective of the current meta-analysis is to evaluate the effects of post-diagnosis exercises on depression, physical functioning, and mortality in breast cancer survivors. METHODS: The search for eligible articles was conducted through CINAHL, Medline/PubMed, Scopus, Cochrane, Emerald Insight and Web of Science, Embase database, MEDLINE In-Process, Elsevier, Google Scholar, PsycInfo, Cochrane Database of Systematic Reviews (CDSR), Cochrane Central Register of Controlled Trials (CENTRAL), Allied and Complementary Medicine (AMED), Biosis Previews, SPORTDiscus, PEDro scientific databases from 1974 to 2020. Following the exclusion procedure, 26 articles yielded for final analysis. The combined statistics for depression, physical functioning, and mortality in breast cancer survivors were calculated using standardized mean differences (SMD). Standard errors and 95% confidence intervals (CI) were converted to standard deviations as required. For mortality, combined statistics were calculated using hazard ratios (HR). The 95% CIs were converted to standard errors as required. The forest plots display point estimates and 95% CIs. RESULTS: Statistically significant improvements on levels of depression were identified following the exercise intervention, suggesting that post-diagnosis physical activity leads to a decrease in depression scores. Overall, post-diagnosis exercise led to a 37% reduction in the rate of breast cancer-specific mortality. The all-cause mortality rate was decreased by 39% with the inclusion of moderate physical activity as the part of daily routine. CONCLUSIONS: Future studies should look at how to improve the quality of life while incorporating physical activity as a daily routine after breast-cancer treatment.

E- Learning experience of the medical profession's college students during COVID-19 pandemic in Saudi Arabia.

BACKGROUND: Worldwide, most of educational institutions have moved to online electronic learning methods because of the COVID-19 pandemic. On March 8, 2020, the Saudi Ministry of Education announced remote learning for public and private schools and universities as a preventive and precautionary measure to curb the spread of the coronavirus. The objective of this study was to explore the e-learning experience of the students of the colleges of health sciences with regard to the technical preparedness, academic achievements, e-learning advantages and limitations. A well-structured and validated questionnaire on a five-point Likert scale and open-ended questions about their e-learning experience was distributed to a heterogeneous purposive sample of the health sciences students in Saudi Arabian universities. RESULTS: Of the 1288 respondents, of various demographical features a relatively higher proportion of 58.2 % agreed that they had enough information about the online learning. However, the proportion who reported receiving adequate guidance, technical support, and having satisfactory hardware and internet access to online learning were 48.1 %, 42, and 35.4 %, respectively. Of all participants, 40.8 % agreed that they had gained a good understanding of their courses learning outcomes. Only 30.0 % agreed that the quality of the online teaching was similar to traditional classes and 56.1 % agreed that the online learning is unsuitable for the medical sciences studies. E-learning advantages mentioned were the flexible accessibility of the learning materials, time, effort, and money saving, acquiring and improving technical and self-learning skills, health safety, interaction without shyness, and better academic accomplishment. On the other hand, disadvantages and difficulties included inadequate tools to facilitate online learning, poor internet connection, lack of technological skills by the educators and students. In addition, there was inadequate or lack of practical classes, lack of a unified clear policy for the conduct of online classes and exams and grade distribution, limited online exam time. CONCLUSIONS: The sudden shift to e-learning without prior preparedness has revealed some pitfalls that need to be adjusted. The initial findings were considered satisfactory for such a new experience for both learners and students. However, there is a great chance for improving and expanding the e-learning process.

Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia.

OBJECTIVE/BACKGROUND: Mutations in transmembrane protease serine 6 (TMPRSS6) gene induce high hepcidin level, which causes iron-refractory iron deficiency anemia (IRIDA) by preventing duodenal iron absorption. This study aims to identify the common genetic variations of the TMPRSS6 gene that affect iron levels among Saudi female patients with iron deficiency anemia (IDA). METHODS: All study participants were Saudi females (12-49 years old): 32 patients with IDA, 32 patients with IRIDA, and 34 healthy individuals comprising the control group. Hematological investigations, iron profile, serum hepcidin level, and TMPRSS6 gene transcription were determined. The TMPRSS6 gene was amplified, sequenced, and analyzed among all study participants. RESULTS: The mean hepcidin and TMPRSS6 RNA transcription levels in IDA and IRIDA groups were significantly lower than those in the control group. TMPRSS6 gene sequence analysis detected 41 variants: two in the 5' untranslated region (5'UTR), 17 in introns, and 22 in exons. Thirty-three variants were previously reported in the Single Nucleotide Polymorphism Database, and eight variants were novel; one novel variant was in 5'UTR (g.-2 T > G); five novel variants were detected in exons (p.W73X, p.D479N, p.E523K, p.L674L, and p.I799I). At the time of the sequence analysis of our samples, two variants-p.D479N and p.674L-were novel. However, these variants are present at a very low allele frequency in other populations (L674L, 0.00007761 and D479N, 0.000003980). CONCLUSION: This is the first study to investigate the genetic variants of TMPRSS6 gene in Saudi female patients with IDA. The generated data will serve as a reference for future studies on IDA in the Arab population.

Recent advances in vaccine and immunotherapy for COVID-19.

The COVID-19 pandemic caused by SARS-CoV-2 has resulted in millions of cases and hundreds of thousands of deaths. Beyond there being no available antiviral therapy, stimulating protective immunity by vaccines is the best option for managing future infections. Development of a vaccine for a novel virus is a challenging effort that may take several years to accomplish. This mini-review summarizes the immunopathological responses to SARS-CoV-2 infection and discusses advances in the development of vaccines and immunotherapeutics for COVID-19.