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1.
Cureus ; 16(5): e59505, 2024 May.
Article in English | MEDLINE | ID: mdl-38826878

ABSTRACT

BACKGROUND:  The pivotal role of research in medicine is undeniable, as it is vital for the progress of healthcare methods and patients' well-being. This notwithstanding, medical and dental students in Saudi Arabia face many barriers that prevent them from participating in research activities. This research aims to reveal the impediments that are particularly relevant, with select challenges and barriers being mentioned, such as time issues, the inadequate supply of resources, and insufficient training and guidance. MATERIALS AND METHODS:  By using a cross-sectional study, the researchers have provided a questionnaire for medical students across multiple Saudi Arabian medical colleges via the online platform. The IBM SPSS Statistics for Windows, Version 23 (Released 2015; IBM Corp., Armonk, New York, United States) was used for data analysis, which leaned clearly on the descriptive statistical part, using a chi-square test to investigate the association between two categorical variables. RESULTS:  There were 469 total participants, and data analysis clearly showed that lack of statistical skills (74.2%), time constraints (73.3%), and research topic selection (71.4%) were the most major obstacles to research participation. Even though the same barriers existed, a significant percentage of students (75.5%) definitely showed interest in the research, with 89.6% of the students recognizing the importance of research in the medical field. Furthermore, it should be highlighted that the female students showed a stronger positive attitude toward research than the male students (70% vs. 58.3%). CONCLUSION:  The results highlight the necessity for the improvement of the medical education curriculum within Saudi Arabia, including the creation of a research participation system for the students. Through learning strategies emphasizing the importance of research, mentorship programs, and providing resources to the students, there will be an increase in their participation and success in the research. This will lead to an enriching medical research environment.

2.
Cureus ; 16(4): e57616, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38707000

ABSTRACT

Background This study assesses the awareness and perceptions of periodic health assessments (PHA) among patients at primary health care (PHC) and family medicine clinics. Despite PHC's importance in preventive health, previous research indicates a significant gap in the public's knowledge and routine practice of PHA, potentially affected by various demographic factors. Materials & methods A cross-sectional approach was employed in Riyadh, Saudi Arabia, with data gathered via self-administered questionnaires from 382 participants. The survey focused on socio-demographic information, knowledge about PHA, and attitudes towards it. Statistical analysis explored the influence of demographic and clinical factors on individuals' knowledge and attitudes. Results Findings showed that 300 (78.5%) participants had engaged in routine medical examinations, displaying substantial knowledge of PHA. Nevertheless, issues like healthcare accessibility and provider availability were identified as the major barriers, affecting 125 (32.7%) and 84 (22%) participants, respectively. The overall attitude towards PHA was positive, especially among individuals with chronic conditions, emphasizing its perceived benefits in health management. Conclusion The research underscores a generally positive attitude and fair knowledge level regarding PHA among the studied population, alongside significant barriers to participation. Targeted interventions that address these barriers and capitalize on the positive attitudes may enhance PHA uptake, promoting better health outcomes. This study contributes to the understanding of public engagement with PHA, offering insights for improving health promotion and disease prevention strategies.

3.
Saudi Med J ; 45(4): 356-361, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38657991

ABSTRACT

OBJECTIVES: To assess the rate of inappropriate repetition of laboratory testing and estimate the cost of such testing for thyroid stimulating hormone (TSH), total cholesterol, vitamin D, and vitamin B12 tests. METHODS: A retrospective cohort study was carried out in the Family Medicine and Polyclinic Department at King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Clinical and laboratory data were collected between 2018-2021 for the 4 laboratory tests. The inappropriate repetition of tests was defined according to international guidelines and the costs were calculated using the hospital prices. RESULTS: A total of 109,929 laboratory tests carried out on 23,280 patients were included in this study. The percentage of inappropriate tests, as per the study criteria, was estimated to be 6.1% of all repeated tests. Additionally, the estimated total cost wasted amounted to 2,364,410 Saudi Riyals. Age exhibited a weak positive correlation with the total number of inappropriate tests (r=0.196, p=0.001). Furthermore, significant differences were observed in the medians of the total number of inappropriate tests among genders and nationalities (p<0.001). CONCLUSION: The study identified significantly high rates of inadequate repetitions of frequently requested laboratory tests. Urgent action is therefore crucial to overcoming such an issue.


Subject(s)
Tertiary Healthcare , Humans , Retrospective Studies , Female , Saudi Arabia , Male , Middle Aged , Adult , Tertiary Healthcare/statistics & numerical data , Unnecessary Procedures/statistics & numerical data , Unnecessary Procedures/economics , Ambulatory Care/statistics & numerical data , Ambulatory Care/economics , Thyrotropin/blood , Aged , Young Adult , Cholesterol/blood , Vitamin B 12/blood , Vitamin D/blood , Cohort Studies , Clinical Laboratory Techniques/economics , Clinical Laboratory Techniques/statistics & numerical data , Adolescent , Value-Based Health Care
4.
Cureus ; 16(2): e54998, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38550473

ABSTRACT

BACKGROUND: Sexually transmitted diseases (STDs) are a global issue facing the world. In a conservative community like Saudi Arabia, discussing such matters is considered taboo, and this might impact the awareness of STDs. Therefore, this study aims to determine if gender, level of education, and university affiliation influence the level of awareness of STDs. METHODS: This research is a cross-sectional study that involves 389 students who are studying at King Saud University (KSU) and Imam Mohammad Ibn Saud Islamic University (IMAMU). Twenty-six questions were gathered from a previous study and implemented into the questionnaire and were validated after. RESULTS: Overall, awareness about STDs was poor. Females scored higher than male participants (7.9 ± 3.3 vs. 7.1 ± 3.2, p < 0.017) respectively. Interestingly, undergraduates scored higher than postgraduates (4.7 ± 3.7 vs. 3.7 ± 3.3, p < 0.029). For the university, KSU students scored higher than their counterparts did at IMAMU (10.4 ± 5.7 vs. 8.9 ± 5.5, p < 0.01). CONCLUSION: Female participants have shown a higher level of STD awareness than males, but the overall awareness is still extremely low. However, KSU scored higher than IMAMU As a result, appropriate education and promotion efforts about STDs must be implemented based on gender and education level.

5.
Saudi Dent J ; 35(8): 916-919, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38107039

ABSTRACT

Non-endodontic lesions (NEL) closely resemble lesions of endodontic origin. Its etiology can be odontogenic, non-odontogenic, neoplastic, or anatomic variations that can resemble inflammatory periapical lesions in the periapical area. Inflammatory periapical lesions are caused by pulpal pathoses and require endodontic treatment. Since numerous NEL may resemble inflammatory periapical lesions, they can lead to misdiagnosis and inappropriate management. Thus, a detailed review of the patients' medical and dental histories with clinical examination, including radiographic findings, is essential for the proper assessment of periapical lesions. Numerous cases of misdiagnoses of NEL have been reported in literature. Thus, this review aimed to strengthen the awareness of clinicians on periapical radiolucency, which may resemble inflammatory periapical lesions.

6.
J Pharm Policy Pract ; 16(1): 171, 2023 Dec 29.
Article in English | MEDLINE | ID: mdl-38155347

ABSTRACT

Successful Vaccine uptake relies heavily on the effectiveness of vaccination services. Expanding the scope of pharmacists' involvement in vaccination services can significantly improve vaccination coverage. The level of pharmacists' engagement in immunization services varies globally. The aim of this paper is to describe the current role of pharmacists in vaccination services in the Middle Eastern countries. The provision of vaccination services by pharmacists in the region has evolved notably in recent years. The extent of pharmacists' involvement in immunization services varies from one country to another in the region. They play a more active role in the delivery of vaccinations, not only facilitating but also administering vaccines. Future studies on pharmacist-led vaccination services in these countries are necessary to assess the value of the expanded practice of pharmacists in this field, especially due to the scarcity of evidence.

7.
Autism Res ; 16(12): 2291-2301, 2023 12.
Article in English | MEDLINE | ID: mdl-38013243

ABSTRACT

Abnormal eye gaze is a hallmark characteristic of autism spectrum disorder (ASD). The primary aim of the present research was to develop an Arabic version of an objective measure of ASD, the "autism index" (AI), based on eye gaze tracking to social and nonsocial stimuli validated initially in the United States. The initial phase of this study included the translation of English language eye-tracking stimuli into stimuli appropriate for an Arabic-speaking culture. During the second phase, we tested it on a total of 144 children with ASD, and 96 controls. The AI had excellent internal consistency and test-retest reliability. Moreover, the AI showed good differentiation of ASD from control cases (AUC = 0.730, SE = 0.035). The AI was significantly positively correlated with SCQ total raw scores (r = 0.46, p < 0.001). ADOS-2 scores were only available in the ASD group and did not show a significant relationship with AI scores (r = 0.10, p = 0.348), likely due to the restricted range. The AI, when implemented using Arabic-translated stimuli in a Qatari sample, showed good diagnostic differentiation and a strong correlation with parent-reported ASD symptoms. Thus, the AI appears to have cross-cultural validity and may be useful as a diagnostic aide to inform clinical judgment and track ASD symptom levels as part of the evaluation process.


Subject(s)
Autism Spectrum Disorder , Eye Movements , Child , Humans , Eye-Tracking Technology , Autism Spectrum Disorder/diagnosis , Reproducibility of Results , Qatar , Language
8.
Cureus ; 15(8): e43742, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37727189

ABSTRACT

Halitosis is defined as the presence of an unpleasant odor in exhaled air, regardless of its cause. In most patients with halitosis, the condition causes embarrassment and interferes with social interactions and daily life. Furthermore, bad breath can be a sign of an underlying disease. Understanding the factors and causes that lead to halitosis and its manifestations could facilitate proper management of this condition. To properly diagnose and treat patients, healthcare professionals, including primary care physicians and dental professionals, must be familiar with the etiology and appropriate management of the disease. Consequently, this review aims to provide practitioners with up-to-date information on the etiological factors of halitosis to facilitate the establishment of preventive measures and provide accurate diagnosis and management.

9.
JCPP Adv ; 3(2): e12142, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37753161

ABSTRACT

Background: A key question for any psychopathological diagnosis is whether the condition is continuous or discontinuous with typical variation. The primary objective of this study was to use a multi-method approach to examine the broad latent categorical versus dimensional structure of autism spectrum disorder (ASD). Method: Data were aggregated across seven independent samples of participants with ASD, other neurodevelopmental disorders (NDD), and non-ASD/NDD controls (aggregate Ns = 512-16,755; ages 1.5-22). Scores from four distinct phenotype measures formed composite "indicators" of the latent ASD construct. The primary indicator set included eye gaze metrics from seven distinct social stimulus paradigms. Logistic regressions were used to combine gaze metrics within/across paradigms, and derived predicted probabilities served as indicator values. Secondary indicator sets were constructed from clinical observation and parent-report measures of ASD symptoms. Indicator sets were submitted to taxometric- and latent class analyses. Results: Across all indicator sets and analytic methods, there was strong support for categorical structure corresponding closely to ASD diagnosis. Consistent with notions of substantial phenotypic heterogeneity, the ASD category had a wide range of symptom severity. Despite the examination of a large sample with a wide range of IQs in both genders, males and children with lower IQ were over-represented in the ASD category, similar to observations in diagnosed cases. Conclusions: Our findings provide strong support for categorical structure corresponding closely to ASD diagnosis. The present results bolster the use of well-diagnosed and representative ASD groups within etiologic and clinical research, motivating the ongoing search for major drivers of the ASD phenotype. Despite the categorical structure of ASD, quantitative symptom measurements appear more useful for examining relationships with other factors.

10.
Int J Surg Case Rep ; 100: 107771, 2022 Nov.
Article in English | MEDLINE | ID: mdl-36334548

ABSTRACT

INTRODUCTION: Giant inflammatory polyposis (GIP) is a rare manifestation of inflammatory bowel disease (IBD), and it is described as a worm-like projection of 1.5 cm or more in diameter with unclear pathogenesis. GIP may be related to the severity of IBD. GIP presents with a wide range of symptoms, including crampy abdominal pain, anemia, and intestinal obstruction. The histopathology of GIP is a polyp lined by normal colonic mucosa with superficial ulceration that may show mild crypt distortion. CASE REPORT: Our case reports a patient with ulcerative colitis diagnosed via colonoscopy and histopathology 10 months before presenting with severe anemia due to lower gastrointestinal bleeding. Colonoscopy showed GIP obstructing the descending and sigmoid colon, and total colectomy showed the entire colon full of worm-like polyps up to 14 cm the longest polyp. DISCUSSION: Giant inflammatory polyposis which is seen in 17 % of UC with active colitis, as seen in our patient, the histopathology component was acute in addition to chronic, which formed within 6 months. According to the data in the literature, the average duration reported for formation since diagnosis with UC is approximately 3 to 276 months. With a length up to 16 cm, the sigmoid colon is the most common site. CONCLUSION: Surgical intervention is indicated for filiform polyposis (FP) if it is complicated, such as bleeding or obstruction, which is reported in a few cases. However, there are no clear guidelines for surgical intervention for complicated FP, but the safest method is to tailor the management according to the guidelines for each underlying disease.

11.
Materials (Basel) ; 15(13)2022 Jun 23.
Article in English | MEDLINE | ID: mdl-35806549

ABSTRACT

The aim of this study was to evaluate the effect of immediate versus delayed loading times on the microtensile bond strength (µTBS) of restorative materials, including resin-based composite (RBC), resin-modified glass ionomer cement (RMGIC) and glass ionomer cement (GIC), that were bonded to silver diamine fluoride (SDF)-treated demineralized dentin. Ninety caries-free extracted premolar teeth were assigned to three groups (n = 30) loaded with RBC, RMGIC and GIC restorative materials. Each group was further divided into three subgroups (n = 10): subgroup A (control specimens), immediate loading of the restorative material on sound dentin; subgroup B, demineralized dentin, SDF treatment and immediate loading of the restorative material; and subgroup C, demineralized dentin, SDF treatment and restorative material loading a week later. One-way ANOVA and Tukey's post-hoc tests were performed to compare the µTBS values. The RBC exhibited the highest µTBS, followed by RMGIC and GIC. Multiple comparisons showed an increase in the µTBS in the delayed loading groups irrespective of the restorative material used. The majority of the failure modes were adhesive. Delayed loading of RMGIC for 1 week after SDF application showed significantly higher µTBS than that of immediate loading.

12.
Clin Cosmet Investig Dent ; 14: 123-130, 2022.
Article in English | MEDLINE | ID: mdl-35602464

ABSTRACT

Aim: To investigate the effect of immediate versus one week later loading time on color stability of resin-based composite (RBC), resin-modified glass ionomer cement (RMGIC) and glass ionomer cement (GIC) restorative materials bonded to silver diamine fluoride (SDF)-treated demineralized dentin. Materials and Methods: Ninety extracted premolars were randomly assigned to the following groups (n = 30 each): group-I (loaded with RBCs), group-II (loaded with RMGIC), and group-III (loaded with GIC). Each group was divided randomly into the following subgroups (n = 10): subgroup-A (control specimens) consisted of sound dentin and the restorative material was immediately loaded; subgroup-B consisted of demineralized dentin, underwent a SDF treatment and the restorative material was immediately loaded; subgroup-C consisted of demineralized dentin, underwent a SDF treatment and the restorative material was loaded 1 week later. The color difference (ΔE) and visual color changes (L*a*b*) of each specimen were calculated using a spectrophotometer. Data were analyzed using one-way ANOVA and post hoc Tukey's tests to compare the ΔE values and a paired t test to compare the mean of L* a* b* coordinates. Results: The highest color stability was observed for GIC, followed by RMGIC, and the lowest color stability was observed for the RBC group. Significant differences within groups were noted in RBC and RMGIC (p < 0.001). Regarding the loading time of the restorative material, in RBCs, a significantly lower ΔE value was observed in the delayed loading group than in the immediate loading group (p = 0.035). In the RMGIC and GIC groups, there were no significant differences. Conclusion: Delaying the loading time of the restorative material for 1 week following the application of SDF resulted in greater color stability than that of immediate loading. The caries arresting potential of SDF was revealed by the dark staining, which could be improved with the subsequent delayed restoration.

14.
Autism Res ; 14(9): 1873-1885, 2021 09.
Article in English | MEDLINE | ID: mdl-33991069

ABSTRACT

The primary objectives of this study were to evaluate the structure and age-related stability of social attention in English and Arabic-speaking youth and to compare social attention between children with autism spectrum disorder (ASD), other developmental disabilities (DD), and typically-developing controls. Eye-tracking data were collected from US (N = 270) and Qatari (N = 242) youth ages 1-17, including children evaluated for possible ASD. Participants viewed 44 stimuli from seven social paradigms. Fixation was computed for areas of interest within each stimulus. Latent variable models examined the structure of social attention. Generalized estimating equation models examined the effect of age, sex, culture, and diagnostic group on social attention. The best-fitting model included a general social attention factor and six specific factors. Cultural differences in social attention were minimal and social attention was stable across age (r = 0.03), but females showed significantly greater social attention than males (d = 0.28). Social attention was weaker in DD (d = -0.17) and lowest in ASD (d = -0.38) relative to controls. Differences were of sufficient magnitude across areas-of-interest to reliably differentiate DD from controls (AUC = 0.80) and ASD-only from all other cases (AUC = 0.76). A social attention dimension that represents an early-life preference for socially salient information was identified. This preference was cross-culturally consistent and stable across development but stronger in females and weaker in DD, especially ASD. Given rapid and easy-to-collect remote eye tracking administration, social attention measurement may be useful for developmental monitoring. Acquisition of population norms, analogous to height/weight/head circumference, might enhance early screening and tracking of neurodevelopment. LAY SUMMARY: This research found that social attention is a single dimension of behavior that represents a strong preference for social stimuli, is consistent across cultures, stable across age, and stronger in females. Children with developmental disabilities had lower levels of social attention than neurotypical children and children with autism spectrum disorder had the lowest levels of social attention.


Subject(s)
Autism Spectrum Disorder , Adolescent , Attention , Child , Child, Preschool , Cross-Cultural Comparison , Female , Goals , Humans , Infant , Male , Mass Screening
15.
J Family Community Med ; 28(1): 48-54, 2021.
Article in English | MEDLINE | ID: mdl-33679189

ABSTRACT

BACKGROUND: The novel coronavirus, officially known as COVID-19, was first reported in Wuhan, China in December of 2019. Since that time, medical services in Saudi Arabia have adapted to the situation by delivering medical care via virtual clinics. Therefore, the present study aimed to assess patients' level of satisfaction with virtual clinics during the COVID-19 pandemic in Saudi Arabia. MATERIALS AND METHODS: This cross-sectional study was conducted among patients who had experienced virtual clinics in primary healthcare centers in Riyadh, Saudi Arabia. An online validated questionnaire was sent to all participants who had at least one virtual visit between March 2020 to July 2020. The data sought included demographics, level of satisfaction and questions related to their experience with virtual clinics. Computed frequencies and percentages for categorical variables, and median, mean, and standard deviation for continuous variables. Satisfaction scores were compared between groups using Mann-Whitney U test and Kruskal Wallis test. RESULTS: A total of 439 patients completed the questionnaire (response rate 97.5%); 54% were male. The participants were divided into three age groups: 18-39, 40-59, and ≥60 years. Overall level of patients' satisfaction with virtual clinic was 68.1%. Factors statistically significantly associated with satisfaction included gender, age group and level of education (post-graduate and middle school) and being well-informed on the use of telemedicine. Specific age groups that were significant were 18-39 and 40-59 years; 50.2% of the males found telemedicine very convenient, compared to only 36.1% females. Family medicine clinics were the most commonly visited virtual clinics, whereas obstetrics and gynecology clinics were the least attended virtual clinics. The inability to meet the health-care professional face-to-face was reported by 53.8% as the most important disadvantage. CONCLUSION: This study shows a high level of satisfaction with virtual clinics in Saudi Arabia during the COVID-19 pandemic despite the service being relatively new in healthcare service in the country. Our study demonstrated that satisfaction was linked to age, gender, education and the type of clinic used.

16.
Neurosciences (Riyadh) ; 25(3): 218-221, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32683405

ABSTRACT

OBJECTIVE: To clarify the spectrum of morphological and molecular subtypes of medulloblastoma (MBL), in addition to MYC and MYCN amplification statuses in a cohort of Saudi patients. The latter was correlated with patient outcome. METHODS: We conducted a retrospective cohort study of 57 patients with MBL, diagnosed at the central laboratory of King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2006 and 2019. Molecular analysis for MYC and MYCN amplification was performed for the 19 most recently diagnosed patients. RESULTS: Classic MBL was the most prevalent histologic subtype and MBL with extensive nodularity was the rarest. The non-WNT/non-SHH molecular subgroup was the most common while the WNT-activated was the least common. Among 19 patients analyzed, MYC and MYCN amplifications were discovered in 2 (10.5%) and 1 (5.3%) cases, respectively, using interphase fluorescence in-situ hybridization. The 2 MYC amplified cases belonged to the large cell/anaplastic subtype and had the worst outcomes. CONCLUSION: The MYC amplification corresponded with poor prognosis, the large cell/anaplastic variant of MBL, and the non-WNT/non-SHH molecular subtype.


Subject(s)
Cerebellar Neoplasms/genetics , Cerebellar Neoplasms/pathology , Medulloblastoma/genetics , Medulloblastoma/pathology , N-Myc Proto-Oncogene Protein/genetics , Proto-Oncogene Proteins c-myc/genetics , Adolescent , Adult , Child , Child, Preschool , Cohort Studies , Female , Gene Amplification , Humans , Infant , Male , Middle Aged , Retrospective Studies , Saudi Arabia , Tertiary Care Centers , Young Adult
17.
Oxf Med Case Reports ; 2020(3): omz147, 2020 Mar.
Article in English | MEDLINE | ID: mdl-32257253

ABSTRACT

Fungal endocarditis (FE) accounts for ~50% of the mortality rate associated with predisposing host conditions. Despite optimal therapeutic strategies, the survival rate remains low. FE is mostly caused by Candida albicans and Aspergillus fumigatus. Previous valvular surgery is the most essential risk factor for Aspergillus endocarditis, which observed in 40-50% of cases. However, native valve FE caused by Aspergillus is uncommon, with only a few reported cases. We hereby report a case of native valve FE caused by A. fumigatus with complications following Wegener's disease and prostate cancer. The patient survived after successful management with the combination of surgical and medical therapy. Aspergillus endocarditis is a rare and fatal fungal infection. Despite difficulties in diagnosis and treatment, medical intervention with antifungal therapy and immediate surgical intervention are essential to achieve desirable outcomes.

18.
OMICS ; 24(3): 160-171, 2020 03.
Article in English | MEDLINE | ID: mdl-32105570

ABSTRACT

Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT is diagnosed primarily in females, with clinical findings manifesting early in life. Despite the variable rates across populations, RTT has an estimated prevalence of ∼1 in 10,000 live female births. Among 215 Saudi Arabian patients with neurodevelopmental and autism spectrum disorders, we identified 33 patients with RTT who were subsequently examined by genome-wide transcriptome and mitochondrial genome variations. To the best of our knowledge, this is the first in-depth molecular and multiomics analyses of a large cohort of Saudi RTT cases with a view to informing the underlying mechanisms of this disease that impact many patients and families worldwide. The patients were unrelated, except for 2 affected sisters, and comprised of 25 classic and eight atypical RTT cases. The cases were screened for methyl-CpG binding protein 2 (MECP2), CDKL5, FOXG1, NTNG1, and mitochondrial DNA (mtDNA) variants, as well as copy number variations (CNVs) using a genome-wide experimental strategy. We found that 15 patients (13 classic and two atypical RTT) have MECP2 mutations, 2 of which were novel variants. Two patients had novel FOXG1 and CDKL5 variants (both atypical RTT). Whole mtDNA sequencing of the patients who were MECP2 negative revealed two novel mtDNA variants in two classic RTT patients. Importantly, the whole-transcriptome analysis of our RTT patients' blood and further comparison with previous expression profiling of brain tissue from patients with RTT revealed 77 significantly dysregulated genes. The gene ontology and interaction network analysis indicated potentially critical roles of MAPK9, NDUFA5, ATR, SMARCA5, RPL23, SRSF3, and mitochondrial dysfunction, oxidative stress response and MAPK signaling pathways in the pathogenesis of RTT genes. This study expands our knowledge on RTT disease networks and pathways as well as presents novel mutations and mtDNA alterations in RTT in a population sample that was not previously studied.


Subject(s)
Forkhead Transcription Factors/genetics , Genome, Mitochondrial , Methyl-CpG-Binding Protein 2/genetics , Nerve Tissue Proteins/genetics , Protein Serine-Threonine Kinases/genetics , Rett Syndrome/genetics , Case-Control Studies , Child , Child, Preschool , DNA Copy Number Variations , Female , Forkhead Transcription Factors/metabolism , Gene Expression Profiling , Gene Expression Regulation , Gene Ontology , Gene Regulatory Networks , Genome, Human , Humans , Male , Methyl-CpG-Binding Protein 2/metabolism , Mitochondria/metabolism , Mitochondria/pathology , Molecular Sequence Annotation , Mutation , Nerve Tissue Proteins/metabolism , Protein Serine-Threonine Kinases/metabolism , Rett Syndrome/diagnosis , Rett Syndrome/metabolism , Rett Syndrome/physiopathology , Signal Transduction , Transcriptome
19.
Curr Pharm Biotechnol ; 21(6): 467-479, 2020.
Article in English | MEDLINE | ID: mdl-32065100

ABSTRACT

OBJECTIVE: The high cost of orphan drugs limits their access by many patients, especially in low- and middle-income countries. Many orphan drugs are off-patent without alternative generic or biosimilar versions available. Production of these drugs at the point-of-care, when feasible, could be a cost-effective alternative. METHODS: The financial feasibility of this approach was estimated by setting up a small-scale production of recombinant human acid alpha-glucosidase (rhGAA). The commercial version of rhGAA is Myozyme™, and Lumizyme™ in the United States, which is used to treat Pompe disease. The rhGAA was produced in CHO-K1 mammalian cells and purified using multiple purification steps to obtain a protein profile comparable to Myozyme™. RESULTS: The established small-scale production of rhGAA was used to obtain a realistic cost estimation for the magistral production of this biological drug. The treatment cost of rhGAA using bedside production was estimated at $3,484/gram, which is 71% lower than the commercial price of Myozyme ™. CONCLUSION: This study shows that bedside production might be a cost-effective approach to increase the access of patients to particular life-saving drugs.


Subject(s)
Glycogen Storage Disease Type II/drug therapy , Orphan Drug Production/economics , Orphan Drug Production/methods , Recombinant Proteins/isolation & purification , alpha-Glucosidases/isolation & purification , Animals , CHO Cells , Cricetinae , Cricetulus , Drug Costs , Feasibility Studies , Glycogen Storage Disease Type II/enzymology , Humans , Recombinant Proteins/economics , Recombinant Proteins/genetics , Recombinant Proteins/metabolism , alpha-Glucosidases/economics , alpha-Glucosidases/genetics , alpha-Glucosidases/metabolism
20.
J Int Soc Prev Community Dent ; 9(4): 349-355, 2019.
Article in English | MEDLINE | ID: mdl-31516868

ABSTRACT

OBJECTIVES: The study aimed to evaluate barriers associated with access and utilization of dental services among the elderly population of Saudi Arabia. MATERIALS AND METHODS: A systematic random sample of 350 elderly people recruited from various gathering places of the elderly including all nursing home residents (n = 73) was included in this study. The data were collected through face-to-face structured interviews related to access and utilization of dental services, and sociodemographic, behavioral, medical, and financial barriers to dental services. Statistical analysis included frequency distributions, chi-squared tests, and regression analysis using the Statistical Package for the Social Sciences (SPSS) program. RESULTS: Approximately 37% of the elderly had proper access to and utilization of dental services. Independent variables that affect access and utilization of dental services were low income (odds ratio [OR] = 2.23, confidence interval [CI] = 1.34-3.72), unmarried participants (OR = 3.25, CI = 1.75-6.05), community residents (OR = 5.15, CI = 2.52-10.53), smokers (OR = 1.93, CI = 1.02-3.68), irregular users of toothbrushing (OR = 3.53, CI = 2.09-5.95), no dental insurance (OR = 1.88, CI = 1.06-3.37), and unaffordable price (OR = 2.55, CI = 1.38-4.69) in the bivariate analysis. In logistic regression analysis, the significant variables that were associated with proper access and utilization of dental services were having dental insurance (OR = 2.24, CI = 1.15-3.82), affordable prices (OR = 2.19, CI = 1.21-3.70), brushing regularly (OR = 3.58, CI = 2.01-6.37), higher education (OR = 1.87, CI = 1.10-3.20), and being married (OR = 1.68. CI = 0.97-2.91). CONCLUSION: Lack of perceived need, no dental insurance, unaffordable price, transportation, and fear from dental treatment were the most common significant barriers to dental services.

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