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1.
Medicina (Kaunas) ; 59(9)2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37763748

RESUMO

Rheumatic heart disease (RHD) represents a serious cardiac sequela of acute rheumatic fever, occurring in 30-45% of patients. RHD is multifactorial, with a strong familial predisposition and known environmental risk factors that drive loss of immunological tolerance. The gut and oral microbiome have recently been implicated in the pathogenesis of RHD. Disruption of the delicate balance of the microbiome, or dysbiosis, is thought to lead to autoimmune responses through several different mechanisms including molecular mimicry, epitope spreading, and bystander activation. However, data on the microbiomes of RHD patients are scarce. Therefore, in this comprehensive review, we explore the various dimensions of the intricate relationship between the microbiome and the immune system in RHD and other rheumatic diseases to explore the potential effect of microbiota on RHD and opportunities for diagnosis and treatment.

2.
Medicina (Kaunas) ; 55(1)2019 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-30650640

RESUMO

Background and objectives: Dilated cardiomyopathy (DCM) is a rare cardiac disease characterised by left ventricular enlargement, reduced left ventricular contractility, and impaired systolic function. Childhood DCM is clinically and genetically heterogenous and associated with mutations in over 100 genes. The aim of this study was to identify novel variations associated with infantile DCM. Materials and Methods: Targeted next generation sequencing (NGS) of 181 cardiomyopathy-related genes was performed in three unrelated consanguineous families from Saudi Arabia. Variants were confirmed and their frequency established in 50 known DCM cases and 80 clinically annotated healthy controls. Results: The three index cases presented between 7 and 10 months of age with severe DCM. In Family A, there was digenic inheritance of two heterozygous variants: a novel variant in LAMA4 (c.3925G > A, p.Asp1309Asn) and a known DCM mutation in MYH7 (c.2770G > A; p.Glu924Lys). The LAMA4 p.Asp1309Asn variant was predicted to be likely pathogenic according to international guidelines. The other two families had no identifiable potentially deleterious variants. Conclusions: Inheritance of two genetic variants may have a synergistic or dose effect to cause severe DCM. We report of a novel p.Asp1309Asn variation associated with DCM. Targeted NGS is useful in the molecular diagnosis of DCM and to guide whole-family management and counselling.


Assuntos
Miosinas Cardíacas/genética , Cardiomiopatia Dilatada/genética , Laminina/genética , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Doenças Raras/genética , Estudos de Coortes , Ecocardiografia , Feminino , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Saúde do Lactente , Masculino , Linhagem , Arábia Saudita
3.
Pediatr Cardiol ; 39(8): 1676-1680, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30105468

RESUMO

Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification. All variants were annotated and common variants were obtained. Briefly, 28 common variants (variants common in two or more than two individuals) were obtained in a group of samples containing DNA from DS patients having CHD as well, 63 variants were found to be unique to DS group of samples and 73 variants have been identified in patients with CHD only. In order to identify genomic variations determining the risk for CHD in DS, only those variants present in DS-CHD group and absent in isolated CHD and/or isolated DS group were considered for further analysis. Variants specific to DS-CHD group were further evaluated based on expression and function data and pathogenicity of the variant of interest. We have implicated mutations in GATA3, KCNH2, ENG, FLNA, and GUSB genes as an underlying risk factor for CHD in DS patients.


Assuntos
Síndrome de Down/complicações , Cardiopatias Congênitas/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Síndrome de Down/genética , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/complicações , Humanos , Masculino , Mutação , Fenótipo
4.
Pediatr Cardiol ; 37(1): 99-105, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26255050

RESUMO

Rheumatic heart disease (RHD) is an inflammatory disease that develops following streptococcal infections. IL10 helps to balance immune responses to pathogens. IL10 polymorphisms have been associated with RHD, although results remain inconclusive. Our aim was to investigate the association between IL10 polymorphisms and RHD in Saudi Arabian patients. IL10 promoter polymorphisms (-1082A/G, -829C/T, and -592C/A) were genotyped in 118 RHD patients and 200 matched controls using the TaqMan allelic discrimination assay. There was a significant difference in IL10-1082 genotype frequency between patients and controls (p = 0.01). -1082G allele carriage (GG+GA vs AA) and the (-1082, -819, -592) GCC haplotype carriage were associated with an increased risk of RHD (p = 0.004, OR 2.1, 95% CIs 1.7-3.4 and p = 0.004, OR 2, 95% CIs 1.3-3.4, respectively). The ACC haplotype was associated with a decrease in RHD risk (p = 0.015, OR 0.6, 95% CIs 0.4-0.9). IL10 promoter polymorphisms may play an important role in the development of RHD and provide an opportunity for therapeutic stratification.


Assuntos
Interleucina-10/genética , Polimorfismo de Nucleotídeo Único , Cardiopatia Reumática/genética , Adulto , Estudos de Casos e Controles , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Masculino , Regiões Promotoras Genéticas , Cardiopatia Reumática/epidemiologia , Arábia Saudita/epidemiologia , Adulto Jovem
5.
Neuro Endocrinol Lett ; 37(4): 277-281, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27857043

RESUMO

We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.


Assuntos
Heterozigoto , Homozigoto , Pais , Sarcoglicanopatias/genética , Sarcoglicanas/genética , Irmãos , Criança , Simulação por Computador , Consanguinidade , Análise Mutacional de DNA , Feminino , Testes Genéticos , Humanos , Biologia Molecular , Linhagem , Arábia Saudita
6.
J Infect Public Health ; 17(4): 681-686, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38471258

RESUMO

BACKGROUND: Little is known about how the COVID-19 pandemic altered laboratory testing efficiency in the State of Qatar. The aim of this study was to assess laboratory testing efficiency with respect to the total number and proportion of C-reactive protein (CRP), complete blood count (CBC), and comprehensive metabolic panel (CMP) tests completed on time in 2019-2021 in several ordinary and COVID-converted Primary Health Care Corporation (PHCC) health centers across Qatar. METHODS: Secondary data from 2019 to 2021 were accessed from the PHCC-Clinical Information System center. Six randomly selected centers from three regions of Qatar (Northern, Central, and Western), two of which were COVID-converted, were analyzed. RESULTS: A total of 404,316 laboratory tests were analyzed. There were decreasing, U-shaped, and inverted-U-shaped patterns in the numbers of tests conducted in different regions between 2019 and 2021 according to test type. The proportion of urgent (STAT) CBC and CMP tests increased from 2019 to 2021, and the proportion of tests completed by COVID-converted health centers increased for CRP and CBC and decreased for CMP between 2019 and 2021. Northern and Western regions in Qatar showed higher efficiency than the Central region with respect to the proportion of STAT tests completed on time in 2019-2021. COVID-converted centers completed fewer STAT CBC tests on time than ordinary centers. CONCLUSION: Pandemics such as COVID-19 shift the allocation of resources from routine tests to urgent tests, as exemplified by the increase in STAT test proportions in 2019 to 2021. High population densities, as noted in the Central region of Qatar, may require additional resources during pandemics to complete urgent tests more efficiently. The conversion of centers to COVID-converted centers may not necessarily translate into higher urgent test efficiency, as exemplified by the STAT CBC test results.


Assuntos
COVID-19 , Humanos , COVID-19/diagnóstico , COVID-19/epidemiologia , Pandemias , Catar/epidemiologia , Laboratórios , Proteína C-Reativa , Atenção Primária à Saúde , Teste para COVID-19
7.
Clin Pract ; 14(4): 1391-1403, 2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-39051306

RESUMO

The integration of artificial intelligence (AI) into healthcare practice has improved patient management and care. Many clinical laboratory specialties have already integrated AI in diagnostic specialties such as radiology and pathology, where it can assist in image analysis, diagnosis, and clinical reporting. As AI technologies continue to advance, it is crucial for biomedical science students to receive comprehensive education and training in AI concepts and applications and to understand the ethical consequences for such development. This review focus on the importance of integrating AI into biomedical science curricula and proposes strategies to enhance curricula for different specialties to prepare future healthcare workers. Improving the curriculum can be achieved by introducing specific subjects related to AI such as informatics, data sciences, and digital health. However, there are many challenges to enhancing the curriculum with AI. In this narrative review, we discuss these challenges and suggest mitigation strategies.

8.
Heliyon ; 10(10): e31076, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38774336

RESUMO

Introduction: An increasing number of students with special educational needs (SEN) are attending higher education institutions. Faculty members are key players in the implementation of inclusive policies, the success of which depends on their attitudes and awareness to help students with SEN. Purpose: The aim of this study was to assess faculty attitudes toward SEN students and awareness of the support provided by the university for SEN students. Methods: This was a cross-sectional study of Qatar University (QU) faculty conducted via an online survey. Demographic data such as gender, years of experience, and academic discipline were collected and associated with previous exposure to SEN students and survey responses using SPSS. Results: Three hundred and thirty-one QU faculty responded out of 1107 registered faculty in 2022, a 30 % response rate. About a third of respondents did not know about available support services for SEN students, and only half of those with awareness of the services attended. After controlling for sociodemographic variables, previous contact with SEN students had a significant effect on attitudes, such that faculty with no previous contact with SEN students (M = 1.47, SD = 0.62) had higher positive attitudes towards SEN students relative to faculty with previous contact with SEN students (M = 1.31, SD = 0.47). However, faculty with contact with SEN students were more likely to report awareness of the availability of workshops and were more likely to be aware of assistive technology compared to being unsure, while those with no previous contact with SEN students were more uncertain about the availability of workshops and assistive technology. Conclusion: The findings suggest a need for targeted interventions to improve faculty awareness of support services and attitudes towards students with SEN in higher education, highlighting the importance of professional development and training initiatives to promote inclusivity in the classroom. Faculty members need to be aware of existing support services for SEN students.

9.
Front Cardiovasc Med ; 11: 1323423, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38476376

RESUMO

Introduction: Many factors contribute to the risk of cardiovascular disease (CVD), an umbrella term for several different heart diseases, including inflammation. Macrophage migration inhibitory factor (MIF) is an important immune modulator that has been shown to be involved in the pathogenesis of different heart diseases, so understanding pathogenic variants of the MIF gene is important for risk stratification. We therefore conducted a meta-analysis to investigate whether the MIF -173G/C (rs755622) polymorphism is associated with CVD. Methods: The PubMed, Science Direct, and Embase databases were searched from inception to June 2023 for case-control studies of the MIF -173G/C polymorphism and its relationship to any type of CVD. Correlations between the MIF -173G/C polymorphism and CVD were estimated by pooling the odds ratios (ORs) with 95% confidence intervals in allelic, dominant, and recessive models using random-effects meta-analysis. Results: A total of 9,047 participants (4141 CVD cases and 4906 healthy controls) from 11 relevant studies were included. In the total population, there was no significant association between the MIF -173G/C (rs755622) polymorphism and the risk of developing CVD in the three different models. In a stratified analysis by ethnicity, the allelic model (C vs G) was significantly associated with CVD in the Arab and Asian populations (OR = 0.56, CI 0.42 -0.75 and OR = 1.28, CI 1.12 -1.46, respectively); the dominant model (CC+CG vs GG) was significantly associated with CVD in the Arab population (OR = 0.42, CI 0.30 -0.61); while the recessive model (GG+GC vs CC) was associated with CVD susceptibility in the Arab population (OR = 3.84, CI 1.57 -9.41). There were no significant associations between the MIF -173 G/C polymorphism and CVD risk in the European population. Conclusion, the MIF -173G/C polymorphism is associated with CVD in some populations. Systematic Review Registration: https://www.crd.york.ac.uk/PROSPERO/, PROSPERO (CRD42023441139).

10.
Biomedicines ; 12(7)2024 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-39062113

RESUMO

Sjögren's syndrome is a multisystemic autoimmune disease that mainly affects the exocrine glands, causing dryness of the eyes and the mouth as the principal symptoms. Non-coding RNAs (ncRNAs), once regarded as genomic "junk", are now appreciated as important molecular regulators of gene expression, not least in Sjögren's syndrome and other autoimmune diseases. Here we review research into the causative roles of microRNAs (miRNAs), long non-coding RNAs (lncRNAs), and circular RNAs (circRNAs) on immunological responses, inflammation, and salivary gland epithelial cell function in Sjögren's syndrome patients. These ncRNAs represent promising new therapeutic targets for treating the disease and possibly as biomarkers for early diagnosis.

11.
Digit Health ; 9: 20552076231174095, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37312954

RESUMO

Background: Healthcare workers are often overworked, underfunded, and face many challenges. Integration of artificial intelligence into healthcare service provision can tackle these challenges by relieving burdens on healthcare workers. Since healthcare students are our future healthcare workers, we assessed the knowledge, attitudes, and perspectives of current healthcare students at Qatar University on the implementation of artificial intelligence into healthcare services. Methods: This was a cross-sectional study of QU-Health Cluster students via an online survey over a three-week period in November 2021. Chi-squared tests and gamma coefficients were used to compare differences between categorical variables. Results: One hundred and ninety-three QU-Health students responded. Most participants had a positive attitude towards artificial intelligence, finding it useful and reliable. The most popular perceived advantage of artificial intelligence was its ability to speed up work processes. Around 40% expressed concern about a threat to job security from artificial intelligence, and a majority believed that artificial intelligence cannot provide sympathetic care (57.9%). Participants who felt that artificial intelligence can better make diagnoses than humans also agreed that artificial intelligence could replace their job (p = 0.005). Male students had more knowledge (p = 0.005) and received more training (p = 0.005) about healthcare artificial intelligence. Participants cited a lack of expert mentorship as a barrier to obtaining knowledge about artificial intelligence, followed by lack of dedicated courses and funding. Conclusions: More resources are required for students to develop a good understanding about artificial intelligence. Education needs to be supported by expert mentorship. Further work is needed on how best to integrate artificial intelligence teaching into university curricula.

12.
Behav Sci (Basel) ; 13(11)2023 Nov 08.
Artigo em Inglês | MEDLINE | ID: mdl-37998658

RESUMO

There is increasing interest in understanding the nature and impact of emotional intelligence (EI) in educational institutions and the workplace since EI is associated with academic performance, career success, job satisfaction, and management skills. Here we measured EI levels in students and employees at Qatar University and examined associations with sociodemographic variables. This cross-sectional study used the Trait Emotional Intelligence Questionnaire-Short Form (TEIQue-SF) questionnaire to quantify EI. Of 517 respondents, 315 were students and 202 were employees. The mean global EI level across all participants was 4.80 ± 0.78, with EI highest in the well-being domain (5.43 ± 1.04). Overall, older respondents had higher EI than younger respondents. There was no significant effect of gender, marital status, or employment position on EI. However, there were significant two- and three-way interactions. As a standalone variable, age was the most important factor influencing EI development in our cohort. However, three-way interactions revealed complex effects between age, gender, and marital status and EI. Our findings support a need for workshops on EI for employees and integrating dedicated courses into existing curricula to equip students with effective interpersonal relationship skills that foster EI development. Developing such interpersonal skills could help to promote personal, professional, and academic success.

13.
Orphanet J Rare Dis ; 18(1): 22, 2023 01 31.
Artigo em Inglês | MEDLINE | ID: mdl-36721231

RESUMO

BACKGROUND: Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematically review the genetic basis of WSS and report the genetic variants and clinical phenotypes associated with the disease. METHODS: PubMed, Science Direct, Scopus, and Web of Science databases were searched from the time of inception until June 2022. Broad search terms were used to capture the literature describing all genetic variants associated with WSS. The search keywords used are "Woodhouse Sakati" along with the term "mutation" OR "gene" OR "variant" OR "polymorphism". RESULTS: Twenty-five eligible studies were included in this study. One hundred and eighty-five patients in 97 families from 12 different countries were diagnosed with WSS. In patients from the Greater Middle East (GME) region, consanguineous marriages were common (67%). Thirteen different DCAF17 variants were associated with WSS development (including 8 identified in the GME region). The most frequent variant was a frameshift deletion variant (c.436delC, p.Ala147Hisfs*9) unique to Arabs that was reported in 11 cases from Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia. There were no clear genotype-phenotype correlations for the different variants. CONCLUSIONS: This systematic review highlights the molecular basis and clinical manifestations of WSS globally, including the GME region, where the disease is prevalent due to consanguinity. Additional studies are now needed to understand the genotype-phenotype correlation for different DCAF17 variants and their impact on the phenotypic heterogeneity observed in WSS patients.


Assuntos
Diabetes Mellitus , Humanos , Epidemiologia Molecular , Oriente Médio , Alopecia , Proteínas Nucleares , Complexos Ubiquitina-Proteína Ligase
14.
Front Med (Lausanne) ; 10: 1021217, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37332752

RESUMO

Background: Uric acid is the final product of purine metabolism and is a potent plasma antioxidant but with pro-inflammatory effects. At high levels, it may increase the risk of developing multiple chronic diseases, such as gout, atherosclerosis, hypertension, and renal diseases. The aim of this study was to assess the sex-specific association between serum bicarbonate and uric acid levels among healthy adults. Methodology: This retrospective cross-sectional study included 2,989 healthy Qatari adults (36.4 ± 11.1 years) from the Qatar Biobank database. Serum uric acid and bicarbonate levels were estimated alongside other serological markers. Participants free from chronic diseases were divided into four quartiles based on serum bicarbonate levels. The sex-specific relationship between serum bicarbonate and uric acid levels was assessed through univariate and multivariate analyses. Results: In men, low serum uric acid levels were significantly associated with higher quartiles of serum bicarbonate levels after adjusting for age. The association remained significant after further adjustment for BMI, smoking, and renal function. The subgroup analysis using the restricted cubic spline method confirmed a significant dose-response association between the variation coefficients of uric acid by serum bicarbonate level in men with adjustments for age, BMI, smoking, and renal function. In women, no significant association was found between quartiles of serum bicarbonate and uric acid levels following the same adjustments. However, using the restricted cubic spline method, a significant bidirectional relation was demonstrated between serum bicarbonate and the variation coefficients of uric acid that were positive for serum bicarbonate levels below 25 mEq/L and negative at higher levels. Conclusion: Serum bicarbonate levels are linearly associated with reduced serum uric acid levels among healthy adult men, which may be a potential protective factor against hyperuricemia-related complications. Further research is needed to determine the underlying mechanisms.

15.
Front Endocrinol (Lausanne) ; 14: 1289333, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38737775

RESUMO

Introduction: Premature ovarian insufficiency (POI) is a primary cause of infertility with variable clinical manifestations. POI is a multifactorial disease with both environmental and known genetic etiologies, but data on the genetic variations associated with POI in the Middle East and North Africa (MENA) region are scarce. The aim of this study was to systematically review all known genetic causes of POI in the MENA region. Methods: The PubMed, Science Direct, ProQuest, and Embase databases were searched from inception to December 2022 for all reports of genetic variants associated with POI in the MENA region. Clinical and genetic data were collected from eligible articles, and ClinVar and PubMed (dbSNP) were searched for variants. Results: Of 1,803 studies, 25 met the inclusion criteria. Fifteen studies were case-control studies and ten were case reports representing 1,080 non-syndromic POI patients in total. Seventy-nine variants in 25 genes associated with POI were reported in ten MENA countries. Of the 79 variants, 46 were rare and 33 were common variants. Of the 46 rare variants, 19 were pathogenic or likely pathogenic according to ACMG classification guidelines and ClinVar. No clear phenotype-genotype association was observed. Male family members carrying pathogenic variants also had infertility problems. Discussion: To our best knowledge, this is the first systematic review of the genetic variants associated with POI in the MENA region. Further functional studies are needed to assess the disease-causing molecular mechanisms of these variants. Knowledge of the genetic basis of POI in the Middle East could facilitate early detection of the condition and thus early implementation of therapeutic interventions, paving the way for precision medicine options in specific populations.


Assuntos
Variação Genética , Insuficiência Ovariana Primária , Humanos , Insuficiência Ovariana Primária/genética , Insuficiência Ovariana Primária/epidemiologia , Feminino , Oriente Médio/epidemiologia , África do Norte/epidemiologia , Predisposição Genética para Doença
16.
Diagnostics (Basel) ; 13(10)2023 May 09.
Artigo em Inglês | MEDLINE | ID: mdl-37238156

RESUMO

Rheumatic heart disease (RHD) is the most important sequela of upper respiratory group A Streptococcus (GAS) infection. The role of the common angiotensin-converting enzyme (ACE) insertion/deletion (I/D) variant in the disease and its subtypes remains uncertain. The acute-phase reactants (APRs) C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) form part of the Jones criteria for diagnosing RHD, and genetic factors are known to influence baseline CRP and ESR levels. Therefore, here, we investigated the relationship between the ACE I/D polymorphism and APR levels in RHD. A total of 268 individuals were recruited, including 123 RHD patients and 198 healthy controls. There was a trend toward a higher D allele frequency in RHD patients. The ACE I/D polymorphism genotype frequency and DD+ID allelic carriage were significantly associated with a high APR level (p = 0.04 and p = 0.02, respectively). These results highlight the importance of ACE I/D polymorphisms in RHD for disease stratification, but not for disease predisposition. Further studies in larger cohorts and different populations are now required to confirm this association and to explore the mechanism of this effect.

17.
J Clin Med ; 12(8)2023 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-37109168

RESUMO

Myelodysplastic syndrome (MDS) describes a group of bone marrow malignancies with variable morphologies and heterogeneous clinical features. The aim of this study was to systematically appraise the published clinical, laboratory, and pathologic characteristics and identify distinct clinical features of MDS in the Middle East and North Africa (MENA) region. We conducted a comprehensive search of the PubMed, Web of Science, EMBASE, and Cochrane Library databases from 2000 to 2021 to identify population-based studies of MDS epidemiology in MENA countries. Of 1935 studies, 13 independent studies published between 2000 and 2021 representing 1306 patients with MDS in the MENA region were included. There was a median of 85 (range 20 to 243) patients per study. Seven studies were performed in Asian MENA countries (732 patients, 56%) and six in North African MENA countries (574 patients, 44%). The pooled mean age was 58.4 years (SD 13.14; 12 studies), and the male-to-female ratio was 1.4. The distribution of WHO MDS subtypes was significantly different between MENA, Western, and Far East populations (n = 978 patients, p < 0.001). More patients from MENA countries were at high/very high IPSS risk than in Western and Far East populations (730 patients, p < 0.001). There were 562 patients (62.2%) with normal karyotypes and 341 (37.8%) with abnormal karyotypes. Our findings establish that MDS is prevalent within the MENA region and is more severe than in Western populations. MDS appears to be more severe with an unfavorable prognosis in the Asian MENA population than the North African MENA population.

18.
Genes (Basel) ; 13(2)2022 01 18.
Artigo em Inglês | MEDLINE | ID: mdl-35205212

RESUMO

Genetic counseling services have only recently been introduced in most Arab countries, and their utilization is increasing. Prenatal genetic counseling is essential, particularly in the Arab context, which is characterized by high rates of consanguinity. Nevertheless, little is known about the decisions faced by parents and the factors underlying the complex decision making that must occur when accessing these services in Arab countries. Herein, we performed a narrative review to discuss the reported experiences of parents accessing genetic counseling in the prenatal setting in the 22 Arab countries. We also highlight the different types of decisions encountered and the factors influencing them. We report that: (i) utilization of genetic counseling services varies across different Arab countries; (ii) many factors affect decision making and service utilization, especially religion; and (iii) parents are faced with an array of decisions in the prenatal setting, partly driven by increased utilization of prenatal diagnosis and preimplantation genetic testing in some countries. Our work is the first to highlight the different factors and decisions influencing genetic counseling in Arab countries. Understanding these factors is essential for improving genetic counseling services in the region and helping counselors facilitate informed decision making.


Assuntos
Árabes , Aconselhamento Genético , Árabes/genética , Consanguinidade , Feminino , Aconselhamento Genético/psicologia , Testes Genéticos , Humanos , Gravidez , Diagnóstico Pré-Natal
19.
Artigo em Inglês | MEDLINE | ID: mdl-35682236

RESUMO

Student perspectives on their final year clinical placements in biomedical sciences at Qatar University are assessed using the clinical practicum assessment tool (CPAT), which was developed in-house following accreditation body requirements. The tool, which we call the CPAT-Qatar University (CPAT-QU), covers the three clinical practicum domains: practicum content, preceptors, and competencies. Here, we validate this tool. The CPAT-QU has 27 Likert-scale questions and free-text open questions. CPAT-QU readability was calculated using the Flesch-Kincaid Reading Ease (FKRE) instrument. Content validity was assessed using the average and universal average scale-level content validity indices (S-CVI/Average and S-CVI/UA). For construct validity, 50 employed graduates who had completed the practicum were consented for study participation, and the validity was calculated by a principal component analysis (PCA). Reliability was analyzed by Cronbach's alpha. The S-CVI/Average and S-CVI/UA were 0.90 and 0.59, respectively, indicating that an adequate proportion of the content was relevant. The PCA extracted two core components, which explained 63% of the variance in the CPAT-QU. Cronbach's alpha values for the items were within the acceptable range of 0.60-1.00, showing that internal consistency has a good level. CPAT-QU appears to be a useful tool for assessing student perspectives on their clinical placements; however, construct validity needs continuous improvement.


Assuntos
Preceptoria , Estudantes , Humanos , Catar , Reprodutibilidade dos Testes
20.
Hematol Rep ; 14(4): 377-388, 2022 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-36547236

RESUMO

Background: Immunocompromised patients, including those with hematological malignancies, are at a high risk of developing severe coronavirus disease 2019 (COVID-19) complications. Currently, there is a limited number of systematic reviews into the efficacy of convalescent plasma therapy (CPT) use in the treatment of COVID-19 patients with hematological malignancies. Therefore, the aim of this review was to systematically appraise the current evidence for the clinical benefits of this therapy in COVID-19 patients with hematological malignancies. Methods: A comprehensive search was conducted up to April 2022, using four databases: PubMed, Web of Science, Science Direct, and Scopus. Two reviewers independently assessed the quality of the included studies. Data collection analysis was performed using Microsoft Excel 365 and GraphPad Prism software. Results: 18 studies met the inclusion criteria; these records included 258 COVID-19 patients who had hematological malignancies and were treated with CPT. The main findings from the reviewed data suggest that CPT may be associated with improved clinical outcomes, including (a) higher survival rate, (b) improved SARS-CoV-2 clearance and presence of detectable anti-SARS-CoV-2 antibodies post CP transfusion, and (c) improved hospital discharge time and recovery after 1 month of CPT. Furthermore, treatment with convalescent plasma was not associated with the development of adverse events. Conclusions: CPT appears to be an effective supportive therapeutic option for hematological malignancy patients infected with COVID-19. To our knowledge, this is one of the first systematic reviews of the clinical benefits of CPT in COVID-19 patients with hematological malignancies.

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