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1.
Front Genet ; 15: 1405453, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39165752

RESUMO

Attention deficit hyperactivity disorder (ADHD) is a clinically and genetically heterogeneous neurodevelopmental syndrome characterized by behavioral appearances such as impulsivity, inattention, and hyperactivity. The prevalence of ADHD is high in childhood when compared to adults. ADHD has been significantly advanced by genetic research over the past 25 years. However, it is logically conceivable that both genetic and/or non-genetic factors, such as postnatal environmental and social influences, are associated with ADHD phenotype in Arab populations. While genetic influences are strongly linked with the etiology of ADHD, it remains obscure how consanguinity which is an underlying factor for many genetic diseases, contributes to ADHD subtypes. Arabian Gulf Nations have one the highest rates of consanguineous marriages, and consanguinity plays an important contributing factor in many genetic diseases that exist in higher percentages in Arabian Gulf Nations. Therefore, the current review aims to shed light on the genetic variants associated with ADHD subtypes in Arabian Gulf nations and Saudi Arabia in particular. It also focuses on the symptoms and the diagnosis of ADHD before turning to the neuropsychological pathways and subgroups of ADHD. The impact of a consanguinity-based understanding of the ADHD subtype will help to understand the genetic variability of the Arabian Gulf population in comparison with the other parts of the world and will provide novel information to develop new avenues for future research in ADHD.

2.
Exp Ther Med ; 28(4): 391, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39161610

RESUMO

Glipizide is an antidiabetic drug that belongs to a class of medication known as sulfonylureas. It is considered one of the highly prescribed antidiabetic drugs for the treatment of type II diabetes in patients following a kidney transplant. It lowers blood glucose levels by causing the release of insulin from ß-cells in the pancreas. Its main metabolizing pathway is through the liver. It has several adverse effects, which range from an upset stomach to glipizide-induced haemolytic anaemia and hypoglycaemia. These adverse effects may be spontaneous, or they could have a genetic cause. The present study aimed to assess and document the incidence of glipizide-induced adverse reactions among patients prescribed the drug. The present retrospective case-control study used the electronic medical records of patients prescribed glipizide for the past 3 years. These records were reviewed to extract and document cases and/or signs of glipizide-induced adverse reactions. The results revealed that the incidence of adverse effects was higher among female patients (odds ratio, 2.40, P<0.001). Moreover, the results revealed that the likelihood of developing adverse drug reactions among patients <40 years of age was higher than in older patients (P>0.05). The outcomes of the present study are expected to prompt future studies to take sex and age into consideration, in an aim to improve treatment outcomes, reduce adverse events and decrease the burden of unnecessary costs for healthcare systems. Recommendations also include genetic screening prior to administering the medication, educating the patients and caregivers on the possibility of adverse drug reactions, and routine follow-up. This issue is of utmost importance to achieve the optimal outcomes with the minimal detrimental effects.

3.
Rheumatol Int ; 44(7): 1317-1325, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38839658

RESUMO

BACKGROUND: Primary Sjögren's Syndrome (pSS) is a systemic chronic autoimmune disorder that contributes to dry mouth (xerostomia) and eyes (xerophthalmia). It mainly affects females between 40 and 60 years old. So far, there is no treatment to cure SS; however, there is a list of medications that can ameliorate the symptoms. In addition, there has been no single test until now to detect pSS, but clinical and immunological investigations are applied as diagnostic tools. Therefore, this study aimed to explore the characteristics of pSS in Saudi patients based on the onset of the disease through laboratory findings and pharmaceutical management. METHODOLOGY: This retrospective study examined diagnosed patients with pSS between 2018 and 2023 from the National Guard Hospital, Saudi Arabia. Data of pSS patients was categorized into two groups: early (under 40 years old) and late-onset (40 years old and above). Data on demographic information, mortality rate, and blood tests such as complete blood count (CBC), creatinine, erythrocyte sedimentation rate (ESR), and vitamin levels, in addition to prescribed medications, were collected from the patient's medical record. Chi-square and t-tests were mainly used, and statistical significance was determined at a P-value less than 0.05. RESULTS: A total of 453 patients were included in the study, where the early-onset group comprised 136 and the late-onset group comprised 317 patients. The mean age of the early and late onset was 34.2 and 60.4, respectively. ESR was significantly higher in the early (46.3 mm/hr) and late-onset (49.8 mm/hr). The most common medication used by all pSS patients was hydroxychloroquine. However, artificial tears were mainly observed in the late-onset group. Other medications, such as pilocarpine, methotrexate, and azathioprine, were prescribed to pSS patients to a lesser extent. CONCLUSION: This study suggests that the onset of pSS could occur even before the age of 40 among Saudi citizens. Notably, elevated ESR levels appeared to be a feature of pSS, which was consistent with other previous findings. The variability of some medications between early-onset and late-onset pSS may indicate disease progression. However, further investigations are required to confirm this observation.


Assuntos
Idade de Início , Síndrome de Sjogren , Humanos , Síndrome de Sjogren/tratamento farmacológico , Síndrome de Sjogren/sangue , Síndrome de Sjogren/diagnóstico , Feminino , Adulto , Estudos Retrospectivos , Pessoa de Meia-Idade , Masculino , Arábia Saudita , Sedimentação Sanguínea , Idoso , Antirreumáticos/uso terapêutico
4.
Saudi Med J ; 44(10): 987-994, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37777263

RESUMO

OBJECTIVES: To investigate the geographic distribution of common cystic fibrosis (CF) variants in the western and southern regions of Saudi Arabia. METHODS: A retrospective study was conducted on 69 patients diagnosed with CF at King Faisal Specialist Hospital & Research Center, Jeddah. Patient data were collected retrospectively between June 2000 and November 2021. Various parameters were considered, including patient demographic information, CFTR variants, and respiratory cultures. RESULTS: We identified 26 CFTR variants in 69 patients with CF, including one novel variant that had not been reported or published before (1549del G) in 2 patients with CF. The 6 most prevalentvariants were as follows: c.1521_1523delCTT (19%), c.1418delG (10.2%), c.579+1G>T (8.8%), c.2988+1G>A (8.8%), c.3419 T>A (7.2%), and c.4124A>C (5.8%). In addition, respiratory cultures revealed that Pseudomonas aeruginosa, Staphylococcus aureus, Haemophilus influenzae, and Streptococcus pneumoniae were highly common among patients with CF. CONCLUSION: This study highlighted features of patients with CF residing in the Western and Southern regions of Saudi Arabia. Six of the 26 CFTR variants were common in these patients. We also report, for the first time, a novel variant and other CFTR variants that are yet to be reported in Saudi Arabia. These findings could help establish a foundation for cystic fibrosis screening in Saudi Arabia and may assist in clinical diagnosis and prognosis.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística , Fibrose Cística , Humanos , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/epidemiologia , Fibrose Cística/genética , Fibrose Cística/diagnóstico , Estudos Retrospectivos , Arábia Saudita/epidemiologia , Mutação
5.
Pharmaceuticals (Basel) ; 16(8)2023 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-37630985

RESUMO

Antimicrobial resistance (AMR) due to the prevalence of multidrug-resistant (MDR) pathogens is rapidly increasing worldwide, and the identification of new antimicrobial agents with innovative mechanisms of action is urgently required. Medicinal plants that have been utilised for centuries with minor side effects may hold great promise as sources of effective antimicrobial products. The free-living nematode Caenorhabditis elegans (C. elegans) is an excellent live infection model for the discovery and development of new antimicrobial compounds. However, while C. elegans has widely been utilised to explore the effectiveness and toxicity of synthetic antibiotics, it has not been used to a comparable extent for the analysis of natural products. By screening the PubMed database, we identified articles reporting the use of the C. elegans model for the identification of natural products endowed with antibacterial and antifungal potential, and we critically analysed their results. The studies discussed here provide important information regarding "in vivo" antimicrobial effectiveness and toxicity of natural products, as evaluated prior to testing in conventional vertebrate models, thereby supporting the relevance of C. elegans as a highly proficient model for their identification and functional assessment. However, their critical evaluation also underlines that the characterisation of active phytochemicals and of their chemical structure, and the unravelling of their mechanisms of action represent decisive challenges for future research in this area.

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