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ObjectiveElectronic Health Records (EHRs) database is a great source for pharmacoepidemiological research as thousands of patients’ clinical and medication information is stored in the database. However, the use of EHRs database for research purposes depends greatly on the accuracy and completeness of the data being used. This study mainly aimed to assess the completeness of EHRs patients’ medication-related information.DesignA retrospective cross-sectional study using data extracted from the EHRs database was conducted.SettingThe EHRs data was obtained from a single tertiary hospital in Saudi Arabia.Main outcome measure(s)The completeness of data was measured considering if a patients’ record contains all desired types of data (i.e., patients’ demographics, clinical diagnosis, and medication-related information).ResultsA total of 23,411 unique individuals were identified after extracting the data from the EHRs. The study found that 89.9% of the patients had a complete data (i.e., age, gender, marital status, nationality, encounter type, and clinical diagnosis). Further, 83.1% of the patients had complete medication-related information. Subgroup analysis by the encounter type indicated that the data was 91.0% complete for outpatient encounter and 93.2% complete for inpatient encounter.ConclusionThe study findings indicate that the completeness of the data varies by the desired types of data. EHRs can be a potentially great resource to conduct research to assess medication use. Further studies focusing on the content and completeness of EHRs for a specific patient population and evaluate other dimensions of EHRs data quality are needed.  相似文献   
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Meckel–Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the ciliopathy phenotypic spectrum. Despite the relatively common occurrence of this syndrome among Arabs, little is known about its genetic architecture in this population. This is a series of 18 Arab families with MKS, who were evaluated clinically and studied using autozygome-guided mutation analysis and exome sequencing. We show that autozygome-guided candidate gene analysis identified the underlying mutation in the majority (n=12, 71%). Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes. These include C5orf42, Ellis–van-Creveld disease gene EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis. This is the largest and most comprehensive genomic study on MKS in Arabs and the results, in addition to revealing genetic and allelic heterogeneity, suggest that previously reported disease genes and the novel candidates uncovered by this study account for the overwhelming majority of MKS patients in our population.  相似文献   
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One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) in a number of Saudi families. Consistent with the presumed pseudodominant inheritance in one of the original families, we show that MMCAT maps to a single autozygous locus on chr16q23.1 in which exome sequencing revealed a homozygous missense change in ADAMTS18. Direct sequencing of this gene in four additional probands with the same phenotype revealed three additional homozygous changes in ADAMTS18 including two nonsense mutations. Reassuringly, the autozygomes of all probands overlap on the same chr16q23.1 locus, further supporting the positional mapping of MMCAT to ADAMTS18. ADAMTS18 encodes a member of a family of metalloproteinases that are known for their role in extracellular matrix remodeling, and previous work has shown a strong expression of Adamts18 in the developing eye. Our data suggest that ADAMTS18 plays an essential role in early eye development and that mutations therein cause a distinct eye phenotype that is mainly characterized by microcornea and myopia.  相似文献   
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Many activities necessitate a high degree of static joint range of motion (ROM) for an extended duration. The objective of this study was to examine whether ROM could be improved with a short duration and volume of static stretching within a warm-up, without negatively impacting performance. Ten male recreationally active participants completed 2 separate protocols to examine changes in ROM and performance, respectively, with different warm-ups. The warm-up conditions for the ROM protocol were static stretching (SS), consisting of 6 repetitions of 6 s stretches; 10?min of running prior to the SS (AS); and 5 min of running before and after the SS (ASA). The performance protocol included a control condition of 10?min of running. Measures for the ROM protocol included hip flexion ROM, passive leg extensor tension, and hamstring electromyographic (EMG) activity at pre-warm-up, and at 1, 10, 20, and 30?min post-warm-up. Performance measures included countermovement jump (CMJ) height, reaction time (RT), movement time (MT), and balance at pre-warm-up and at 1 and 10?min post-warm-up. The ASA produced greater ROM overall than the SS and AS conditions (p?< 0.0001), persisting for 30?min. There were no significant alterations in passive muscle tension or EMG. For the performance protocol, there were no main effects for condition, but there was a main effect for time, with CMJ height being greater at 1 and 10?min post-warm-up (p = 0.0004). Balance ratios and MT improved at 10?min post-warm-up (p?< 0.0001). Results indicate that the ASA method can provide ROM improvements for 30?min with either facilitation or no impairment in performance. This may be especially important for athletes who substitute later into a game with minimal time for a full warm-up.  相似文献   
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The calcium-binding protein S100A4 can induce a metastatic phenotype in animal model systems and its expression in various human cancers has been shown to be associated with metastasis and reduced patient survival. Using a series of nested deletion mutants, it is now shown that the two C-terminal lysine residues are required for the enhanced metastasis, invasion and migration abilities that S100A4 confers on cells in a model system of metastasis. Basic C-terminal residues enhance the affinity between S100A4 and its best characterized target, a recombinant C-terminal fragment of non-muscle myosin II heavy chain isoform A (NMMHC-IIA). In wild-type S100A4 protein, the presence of the C-terminal lysine, residue 101, enhances the rate of association between S100A4 and NMMHC-IIA. These results identify the amino acids of S100A4 that are involved in metastasis induction and show that the C-terminal region of S100A4 is a possible target for inhibitors of its metastatic action.  相似文献   
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BackgroundStress and anxiety are relatively common, particularly in females and college students. Stress can impact students’ overall performance and their physical and mental health. The COVID-19 pandemic has affected all aspects of life and is associated with high levels of psychological distress. It has considerably affected the education sector, not only locally but worldwide, forcing a shift in the education system from on-site to virtual learning. This cross-sectional study was undertaken to evaluate the prevalence of anxiety and stress regarding virtual learning among health sciences college students in the Kingdom of Saudi Arabia (KSA) after introducing blended virtual classes and exams and in-person laboratory training. The study was carried six months after the COVID-19 outbreak.MethodologyParticipants were recruited by convenient sampling and snowballing strategies. Our study was conducted between November 18 and December 6, 2020. Questionnaires were employed; they included the General Anxiety Disorder-7 (GAD-7) scale and focused on the participants’ attitudes toward virtual learning. The present research was validated by a pilot study, followed by implementing some amendments.ResultsA total of 418 health sciences college students, aged 18–27 (M = 20.88, SD = 1.97), participated in the study. Our analysis indicated that more than half the sample (51.44%) reported a risk of moderate to severe GAD. Anxiety was recognized more frequently in women (72.09%) than in men (27.91%). Interestingly, our Χ2 analysis revealed an association between marital status and anxiety, with a higher risk of GAD found in single people (compared with married). In addition, we found that the risk of anxiety increased in junior students (1st-3rd year) compared to senior students (4th-6th year).ConclusionOur study highlights the need to establish gender-based tailored mental health support systems that provide preventive measures. The study findings also recommend that institutions develop programs and platforms that safely support students to interact and seek guidance, particularly those at higher risk of stress, such as females and first-year students. Overall, our study underlines the need to pursue an understanding of the complicated nature of anxiety disorders..  相似文献   
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This study aimed to evaluate the nutritional status of Saudi children with celiac disease (CD) who followed the Ministry of Health’s gluten-free diet (GFD) program. This study involved 66 children with CD (29 boys and 37 girls) from 5 hospitals belonging to the Ministry of Health. Socioeconomic characteristics were obtained using a structured questionnaire. Anthropometric indices were measured using a body composition analyzer. Dietary intake was assessed using three 24 h dietary records. The biochemical parameters were determined in the hospitals’ laboratories. According to the findings, the majority of respondents had ages ranging from 10 to 13 years, a father and mother with a university education, a high family income, and 5 to 7 family members. Carbohydrates and protein intake for both genders were significantly higher than the DRI’s recommended dietary intake. However, the majority of nutrients consumed were at levels significantly lower than the DRI. Both genders had normal anthropometric indices, with girls having at significantly higher indices than boys. The biochemical parameters of both genders were comparable and within the normal range, except for vitamin D, which was below the normal range. The most important factors influencing nutritional status were age for both genders, and family income and number of family members for boys. In conclusion, data obtained for nutrient intake, anthropometric indicators, body composition, and biochemical analysis indicated that CD children following the Ministry of Health GFD program have a generally good nutritional status.  相似文献   
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