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1.
Cureus ; 16(4): e58094, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38738012

RESUMO

Introduction Pathologists play a pivotal role in diagnosing diseases and improving patient care. Nonetheless, research indicates that a mere fraction of medical school graduates opt for a career in pathology, ranging from 1% to 3%. Diverse factors influence students' perceptions of pathology, encompassing lifestyle, patient interaction, and income. Aim The aim of this study was to assess the perceptions and factors that influence students' selection of pathology as a career in Saudi Arabia. Methodology A cross-sectional, self-administered electronic questionnaire was distributed among students from various regions of Saudi Arabia. The questionnaire encompassed both quantitative and qualitative data. To ensure statistical rigor, a confidence level of 95%, response distribution of 10%, and margin of error of 5% were applied. Accordingly, the recommended sample size of 150 participants was determined. Data analysis was performed using IBM SPSS Statistics for Windows, Version 24.0 (IBM Corp., Armonk, NY), with the chi-square test applied at a significance level of P < 0.05. Results Among the 664 participating students, 130 (19.6%) indicated an interest in pathology, of whom only 19 (2.9%) regarded it as their primary choice. No statistically significant difference was found between the male and female students or between the students in foundational and clinical years. Conclusions The female students generally held a more favorable perception of pathology, acknowledging its clinical significance and role in diagnosis, prognosis, and patient management. The absence of nocturnal calls emerged as the most encouraging factor, while limited patient interaction emerged as the primary deterrent in choosing pathology.

2.
Tob Induc Dis ; 21: 76, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37313116

RESUMO

INTRODUCTION: Environmental tobacco smoke (ETS) is associated with several congenital anomalies, including non-syndromic orofacial clefts (NSOFCs). This systematic review aimed to update the literature on the association between ETS and NSOFCs. METHODS: Four databases were searched up to March 2022, and studies that evaluated the association between ETS and NSOFCs were selected. Two authors selected the studies, extracted the data, and evaluated the risk of bias. Comparing the association of maternal exposure to ETS and active parental smoking with NSOFCs allowed for the creation of pooled effect estimates for the included studies. RESULTS: Twenty-six studies were deemed eligible for this review, of which 14 were reported in a previous systematic review. Twenty five were case-control studies, and one was a cohort study. In total, these studies included 2142 NSOFC cases compared to 118129 controls. All meta-analyses showed an association between ETS and the risk of having a child with NSOFC, based on the cleft phenotype, risk of bias, and year of publication, with a pooled increased odds ratio of 1.80 (95% CI: 1.51-2.15). These studies had a marked heterogeneity, which decreased upon subgrouping based on the recent year of publication and the risk of bias. CONCLUSIONS: ETS exposure was associated with more than a 1.5-fold increase in the risk of having a child with NSOFC, showing a higher odds ratio than paternal and maternal active smoking. TRIAL REGISTRATION: The study is registered on the International Prospective Register of Systematic Reviews database # CRD42021272909.

3.
Mar Pollut Bull ; 190: 114874, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37002961

RESUMO

This study examines the landscape degradation of the Jazan coastal desert in Saudi Arabia and explores strategies to balance tourism development and environmental preservation. The Coastal Scenery Evaluation System (CSES) was utilized to assess the scenic quality of 42 coastal sites, revealing that most sites fell into Classes III, IV, and V. Factors such as coastal erosion, hard structures, urbanization, marine wrack, litter, sewage, and beach driving had a negative impact on the scenic quality of the coastal sites. To enhance the landscape of the Jazan coastline, it is important for the Kingdom of Saudi Arabia (KSA) to give primacy to approaches to the management of coastal scenery that maintain an equilibrium between promoting tourism and safeguarding the environment. These strategies should focus on preserving, enhancing, and restoring coastal scenic characteristics and incorporate the protection and restoration of ecosystems and habitats, sustainable use of resources, natural and cultural heritage conservation, a balance between protection and development, legal and institutional support, identification and assessment of scenic values, stakeholder involvement, resource provision for effective management, and promotion of research and evaluation. Successful implementation of these strategies will lead to increased tourist arrivals and a much-improved coastal management system in the Jazan coastline and other coasts in the Kingdom of Saudi Arabia experiencing similar development pressures.


Assuntos
Conservação dos Recursos Naturais , Ecossistema , Humanos , Urbanização , Atividades Humanas , Arábia Saudita
4.
Genes (Basel) ; 13(12)2022 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-36553519

RESUMO

Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we investigated a singleton from a first-degree cousin marriage who presented with facial dysmorphism, global developmental delay, seizure disorder, and nystagmus. To identify the involvement of any likely genetic cause, diagnostic clinical exome sequencing was performed. Comprehensive filtering revealed a single plausible candidate variant in DNM1. Sanger sequencing of the trio, the patient, and her parents, confirmed the full segregation of the variant. The variant is a deletion leading to a premature stop codon and is predicted to cause a protein truncation. Structural modeling implicated a complete loss of function of the Dynamin 1 (DNM1). Such mutation is predicted to impair the nucleotide binding, dimer formation, and GTPase activity of DNM1. Our study expands the phenotypic spectrum of pathogenic homozygous loss-of-function variants in DNM1.


Assuntos
Epilepsia Generalizada , Epilepsia , Feminino , Humanos , Dinamina I/genética , Epilepsia/genética , Homozigoto , Mutação
5.
Forensic Toxicol ; 40(1): 19-48, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-36454482

RESUMO

PURPOSE: This review presents the current methods used for determining ethyl glucuronide (EtG) and ethyl sulfate (EtS) concentrations in postmortem specimens, including sample preparation, analysis and the role of EtG and EtS in the postmortem assessment of the extent of alcohol abuse. METHODS: Papers pertaining to postmortem investigation were collected from scientific databases and reviewed. The papers were published between January 2006 and October 2020. RESULTS: Most of the analyses involved postmortem blood and urine samples, with a few reports using other bodily specimens and tissues. The method validation was not conducted for all applications. These reports were mostly intended to present data rather than interpret them, and the lack of effort in relating these ethanol biomarkers with the cause of death and/or determination of the time of deaths due to ethanol intoxication might decrease the applicability of these makers after a promising start between 2006 and 2010. Nevertheless, by the beginning of 2020, papers investigating ethanol biomarkers were still increasing. A considerable number of methods used liquid chromatography coupled with mass spectrometry (LC-MS) techniques that require less sample preparation (e.g., protein precipitation extraction, dilution, filtration, and centrifugation). Although solid-phase extraction can be applied, only three applications were reported. CONCLUSIONS: Matrix effects can be a substantial challenge in analytical methods based on LC-MS because they directly affect the ionization of analytes. However, these problems can be avoided due to the high cutoff values used to identify positive results for these ethanol biomarkers, which are often above 0.1-1 mg/L, and using internal standards. Research on using tissue specimens is recommended as most of the reported results on this type of specimen were promising.


Assuntos
Etanol , Glucuronatos , Toxicologia Forense
6.
Cells ; 11(19)2022 10 07.
Artigo em Inglês | MEDLINE | ID: mdl-36231115

RESUMO

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in RTN4IP1, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted patients. The gene is known to encode a mitochondrial ubiquinol oxidoreductase that interacts with reticulon 4 and is thought to be a mitochondrial antioxidant NADPH oxidoreductase. Here, we describe two unrelated consanguineous families from the northern region of Saudi Arabia harboring a missense variant (RTN4IP1:NM_032730.5; c.475G

Assuntos
Encefalopatias , Atrofia Óptica , Antioxidantes , Proteínas de Transporte/genética , Humanos , Proteínas Mitocondriais/genética , Mutação/genética , NADP/genética , Atrofia Óptica/genética , Oxirredutases/genética , Arábia Saudita
7.
Mar Pollut Bull ; 181: 113861, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35753250

RESUMO

Visual pollution is the visible deterioration and negative aesthetic quality of the landscape. Erosion, marine wrack, litter, sewage, and beach driving are affecting the coastal scenery and are generating a visual pollution problem on the Rabigh coastal area, Kingdom of Saudi Arabia. This work provides the scenic evaluation of 31 coastal sites using the Coastal Scenery Evaluation System (CSES) to determine the current state of this situation and give management inputs. The CSES assesses values from a checklist of 18 physical and 8 human parameters and allows the calculation of a scenic evaluation index (D Value), which classifies coastal sites into five classes: Class I, usually natural areas of top scenic characteristics, to Class V, poor scenic natural areas with a higher impact of human interventions. Along the study area, three sites (9.7 %) appeared in Class II; five (16.1 %) in Class III; 15 (48.4 %) in Class IV, and eight sites (25.8 %) in Class V. Class I sites were not found in the study area. Assessment presented in this work provides a complete overview of the Rabigh coastal scenery and serves as a baseline for implementing management strategies to cope the visual pollution problem.


Assuntos
Monitoramento Ambiental , Poluição Ambiental , Meio Ambiente , Poluição Ambiental/análise , Humanos , Arábia Saudita , Esgotos
8.
Front Pediatr ; 10: 1051534, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36923948

RESUMO

Background: SLC13A5 (solute carrier family 13, member 5) encodes sodium/citrate cotransporter, which mainly localizes in cellular plasma membranes in the frontal cortex, retina, and liver. Pathogenic variants of the gene cause an autosomal recessive syndrome known as "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta." Results: Here, we have investigated six patients from three different consanguineous Saudi families. The affected individuals presented with neonatal seizures, developmental delay, and significant defects in tooth development. Some patients showed other clinical features such as muscle weakness, motor difficulties, intellectual disability, microcephaly, and speech problems in addition to additional abnormalities revealed by electroencephalography (EEGs) and magnetic resonance imaging (MRI). One of the MRI findings was related to cortical thickening in the frontal lobe. To diagnose and study the genetic defects of the patients, whole exome sequencing (WES) coupled with confirmatory Sanger sequencing was utilized. Iterative filtering identified two variants of SLC13A5, one of which is novel, in the families. Families 1 and 2 had the same insertion (a previously reported mutation), leading to a frameshift and premature stop codon. The third family had a novel splice site variant. Confirmatory Sanger sequencing corroborated WES results and indicated full segregation of the variants in the corresponding families. The patients' conditions were poorly controlled by multiple antiepileptics as they needed constant care. Conclusion: Considering that recessive mutations are common in the Arab population, SLC13A5 screening should be prioritized in future patients harboring similar symptoms including defects in molar development.

9.
Cureus ; 11(9): e5592, 2019 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-31700705

RESUMO

Purulent infections of periodontal tissues are known as periodontal abscesses localized to the region of the involved tooth. Due to the high prevalence rate and aggressive symptoms, it is considered a dental emergency; urgent care is mandatory to maintain the overall health and well being of the patient. This case report describes the management of a patient who presented with an acute periodontal abscess secondary to poor oral hygiene. Clinically and radiographically, the lesion was mimicking an acute apical abscess secondary to pulpal necrosis. Periodontal treatment was started after completion of antibiotic therapy. The clinical presentation of the condition and results of the recovery, along with a brief review of relevant literature are discussed.

10.
J Family Community Med ; 24(2): 91-96, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28566972

RESUMO

BACKGROUND: Approximately, 80% of the many cases of the Middle East respiratory syndrome coronavirus (MERS-CoV) confirmed worldwide were diagnosed in the Kingdom of Saudi Arabia (KSA). The risk of the disease spreading internationally is especially worrying given the role of KSA as the home of the most important Islamic pilgrimage sites. This means the need to assess Arab pilgrims' awareness of MERS-CoV is of paramount importance. MATERIALS AND METHODS: A cross-sectional study was carried out during Ramadan 2015 in the Holy Mosque in Makkah, Saudi Arabia. Self-administered questionnaires were distributed to 417 Arab participants at King Fahad Extension, King Abdullah Prayer Extension and, King Abdullah Piazza Extension after Taraweeh and Fajr prayers. RESULTS: The mean MERS-CoV knowledge score was 52.56. Majority of the respondents (91.3%) were familiar with MERS-CoV. Saudis had significantly higher knowledge of MERS-CoV than non-Saudis (56.92 ± 18.55 vs. 44.91 ± 25.46, p = 0.001). Females had significantly more knowledge about consanguineous MERS-CoV than males (55.82 ± 19.35 vs. 49.93 ± 23.66, p = 0.006). The average knowledge was significantly higher in respondents who had received health advice on MERS-CoV (56.08 ± 20.86 vs. 50.65 ± 22.51, p = 0.024). With respect to stepwise linear regression, knowledge of MERS-CoV tended to increase by 14.23 (B = 14.23%, p = 0.001) in participants who were familiar with MERS-CoV, and by 8.50 (B = 8.50, p = 0.001) in those who perceived MERS-CoV as a very serious disease. CONCLUSION: There is a great need for educational programs to increase awareness about MERS-CoV.

11.
Qatar Med J ; 2015(2): 12, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26835408

RESUMO

BACKGROUND: Research on the attitudes of Saudi adults towards consanguinity is scarce. The study aimed to explore the attitudes towards consanguinity and its associations with socio-demographic characteristics in a sample of Saudi adults. METHODS: A cross-sectional study was conducted using a self-administered questionnaire. A total of 386 outpatient waiting-area attendees at King Abdul-Aziz Medical City-Riyadh were included. Participants were asked about their socio-demographic characteristics, attitude towards consanguinity and the reasons behind this. RESULTS: The positive attitude towards consanguinity among the study respondents was 48.1% with 95% confidence interval (42.91-53.33%). Social and traditional culture (59.9%) were found to be the predominant reasons for favoring consanguinity in Saudi Arabia. Evidence against a positive attitude towards consanguinity was noted in respondents who received medical information about consanguinity versus those who had not received medical information (42.3% vs. 57%, p-value = 0.008). According to the multivariate logistic model, the odds of a positive attitude towards consanguinity were 2 times higher for males (adjusted odds ratio [aOR]: 2.2; 95% CI: 1.147, 4.290) and 4.1 times higher in respondents in consanguineous marriages (aOR: 4.1; 95% CI: 2.350, 7.156). The odds of a positive attitude towards consanguinity were 50% less in respondents who received health information on consanguinity compared to those who had not received health information about consanguinity (aOR: 0.50; 95% CI: 0.253, 0.863). CONCLUSION: One in every two Saudi adults favors consanguinity however, Saudi men and women differ in their attitudes towards consanguinity. Receiving health information on consanguinity was associated with a negative attitude towards this practice.

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