Understanding the Quality of Life Among Patients With Cancer in Saudi Arabia: Insights From a Cross-Sectional Study.

INTRODUCTION: Cancer patients' quality of life (QoL) significantly influences treatment response and mortality rates. Understanding QoL domains among patients with cancer and what affects it can help create interventions that improve QoL and ease patients' experience. This study measures the OoL among patients with cancer and influencing factors. METHODS: A prospective cross-sectional questionnaire-based study included cancer patients aged >18 currently receiving treatment. The questionnaire collected social and economic data, followed by the validated Arabic version of the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC-QLQ-C30). Means and standard deviations for described numeric variables and frequencies and percentages described categorical variables. Analysis of variance, F-tests, and P-values were reported. RESULTS: Among 182 cancer patients, 60% were female. Younger patients exhibited higher QoL in physical and role functioning (P = .016 and .03) and experienced more significant financial impact (P = .0144). Females reported more adverse effects from cancer symptoms, including fatigue, nausea, vomiting, and pain (36.7% vs 25.5%, P = .005; 20.6% vs 11.5%, P = .0186; 34.7% vs 25.1%, P = .0281). Single patients had superior QoL in physical functioning compared to others (P = .0127). Patients traveling long distances were more likely to face adverse financial consequences (P = .007). Asthmatic patients exhibited lower QoL in physical, role, and cognitive functioning (72.3 vs 37.8, P = .0147; 76.4 vs 22.2, P = .0024; 84.7 vs 44.4, P = .0038) and reported increased dyspnea and appetite loss (16 vs 55.6 and 26.1 vs 66.7, both P < .05). CONCLUSION: Factors influencing QoL in Saudi cancer patients include age, marital status, gender, hospital distance, and chronic conditions. Thus emphasizing the necessity for personalized care strategies to enhance outcomes and alleviate the overall burden of cancer care.

Asthma patients in Saudi Arabia - preferences, health beliefs and experiences that shape asthma management.

Objectives: The aim of this study was to explore the experience of Saudi participants in managing their asthma and their perspectives about using future pharmacy-based services for asthma management. METHODS: Semi-structured interviews were conducted with adult Saudis with asthma or those who were a carer of a child with asthma. Participants were recruited from medical practices and community centres in Riyadh, Saudi Arabia. Verbatim transcribed interviews were inductively analysed using thematic analysis. RESULTS: Twenty-three Saudi participants with asthma or caring for those with asthma took part in interviews which lasted on average for 25 min. Most participants did not have well-controlled asthma. Thematic analyses of the interview transcripts highlighted four key emergent themes: participants experience of asthma, participants' beliefs and perceptions about health and medicines, perception of health professionals and advocacy and social support. Many participants expressed an emotional burden in their lived experience of asthma. Lack of self-management skills were evident in participants' reluctance to make decisions in emergency situations. Some participants had strong beliefs about using herbal medicines rather than western medicines. Using social media or consulting with their family members with asthma was a common preference, rather than consulting healthcare professionals. Participants' were rather unclear about pharmacy asthma care services and reported not having experienced such services in their pharmacies. CONCLUSION: Inadequate self-management behaviours may affect the level of asthma control in people with asthma in Saudi Arabia. Improved primary care models with extensive focus on asthma education are needed to relieve the over-reliance on tertiary care help-seeking models that are currently the norm. Current evidence-based information also needs to be prepared in patient friendly formats and disseminated widely. Community pharmacists would need to be trained and skilled inpatient engagement and would have to win the public trust for viable asthma services provision.

Adherence to prophylactic dual antiplatelet therapy in patients with acute coronary syndrome - A study conducted at a Saudi university hospital.

OBJECTIVES: The aim of this study was to evaluate patients' self-reported adherence to dual antiplatelet therapy (DAPT) and determine the factors associated with premature discontinuation of DAPT. METHODS: The cross-sectional interview-based study was conducted among adult outpatients who visited the outpatient department of King Khalid University Hospital, Cardiac Center in Riyadh, Saudi Arabia, over a period of 3 months from May to July of 2016. Medication adherence was assessed using the Self-efficacy for Appropriate Medication Use Scale (SEAMS), which is composed of 13 items with a 3-point Likert scale. RESULTS: A total of 192 patients participated in the study. The majority of the participants were male (82.1%), and the mean age was 55.66 ± 10.80 years. More than 84% (84.4%) of the patients reported that they were "confident" in taking several medications each day. The minimum and maximum SEAMS scores were 22 and 39, respectively, with the mean score being 30.8 ± 3.5. Almost all patients had moderate scores and adherence; only one patient got a score of 39. Among sociodemographic characteristics, only health insurance and income were significantly associated with the medication adherence score (p < 0.05). CONCLUSIONS: Study results concluded that patients had a moderate level of adherence towards DAPT in Saudi Arabia, however Patient education on DAPT is essential to improve adherence to medication treatment. More effective intentions and education methods should be developed to improve long-term DAPT adherence.

Clinical Presentations, Diagnosis, and Genetic Features of Hemophagocytic Lymphohistiocytosis: A Single Institutional Experience With the Saudi Population.

Background Hemophagocytic lymphohistiocytosis (HLH) is an uncommon, potentially fatal condition caused by high immune activation. The present study aimed to identify the clinical manifestations, geographic distribution, and associated pathogenic genetic mutations of HLH in Saudi Arabia. Method A retrospective cross-sectional study was conducted at King Fahad Medical City (KFMC), with a total of 59 patients diagnosed with HLH in the period between 2006 and 2018. All genetic results and clinical and biochemical data were retrieved and statistically analyzed using IBM SPSS Statistics for Windows, Version 25 (Released 2017; IBM Corp., Armonk, New York, United States). Results The results revealed that 48 patients (81.4%) had 15 pathogenic mutations of primary HLH whereas 8 (13.6%) patients had no genetic mutation. The most common variant mutation identified was c.1430C>T of the STXBP2 gene (42.4% of total patients), followed by c.1122G>A of the PRF1 gene (10.2% of patients), which demonstrated a distinctive geographic and tribal association. Patients with RAB27A mutation tend to present at an older age than the others with a median age of presentation of 5.5 months vs 2 months for patients with PRF1 mutations. No significant differences in clinical features were observed among the various groups. Conclusion This study highlights the incidence of genetic mutations among the Saudi population with HLH. The STXBP2 is the most common mutation followed by PRF1 mutations, many mutation variants are associated with a distinctive tribal and geographic association.

Single Nucleotide Polymorphisms Associated with Rheumatoid Arthritis in Saudi Patients.

Rheumatoid arthritis (RA) is a complex, multifactorial disorder with an autoimmune etiology. RA is highly heritable and is associated with both human leucocyte antigen (HLA) and non-HLA genes. We investigated the associations of 33 single nucleotide polymorphisms (SNPs) with RA in the Saudi population. METHODS: This study included 105 patients with RA and an equal number of age- and sex-matched controls. The patients with RA attended outpatient clinics at King Khalid University Hospital in Riyadh, Saudi Arabia. Blood samples were collected, and DNA was extracted using Qiagen kits. Primers were designed for the 33 selected SNPs using the MassEXTEND primers program, and samples were genotyped on the Sequenom MassARRAY iPLEX platform. The allele frequencies and genotypes were determined for each SNP, and the results obtained for the patients were compared to those for the controls. RESULTS: The allele and genotype frequencies of six SNPs were significantly associated with RA: rs1188934, rs10919563, rs3087243, rs1980422, rs10499194, and rs629326. The minor alleles of rs1188934, rs10919563, rs10499194, and rs629326 were protective, with odds ratios of 0.542, 0.597, 0.589, and 0.625, and p-values of 0.002, 0.023, 0.013 and 0.036, respectively. In addition, the heterozygote frequencies of two SNPs (rs6859219 and rs11586238) were significantly higher in the controls than in the patients. CONCLUSIONS: There is considerable heterogeneity in the genetics of RA in different populations, and the SNPs that are associated with RA in some populations are not in others. We studied 33 SNPs and only eight were associated with RA. The remaining SNPs showed no allelic or genotypic associations with RA.

Proinflammatory cytokine profiles in prediabetic Saudi patients.

Prediabetes is an increase-risk state for diabetes that is associated with an increase in blood glucose levels to more than normal, but not increased enough to be termed as type 2 diabetes mellitus (T2DM). A timely intervention and management of prediabetes can stop its further progression to the diabetic state. Many cytokines are involved in diseases including diabetes, however, their role in prediabetes is unknown. In this study, we attempted to analyze numerous proinflammatory cytokines in prediabetic patients. A total of 60 adult Saudi prediabetes patients and healthy control individuals were included in this study. To better understand the role of the proinflammatory cytokines in prediabetes patients and its potential link to the disease outcome, the variations in the levels of these cytokines were investigated using Multi-Analyte ELISA technique. The T helper cells (Th1 and Th2) immune response expression profiling of 84 genes was done using Real Time-quantitative PCR (RT-qPCR) technique. The present finding showed that serum Interleukin IL-2, IL-1ß, and IL-1α levels of all prediabetes patients were increased when compared with healthy control cases (P < 0.05). Inductions of proinflammatory cytokines and upregulation of Th1 and Th2 immune genes might play a potential role during prediabetes status and may be linked to the disease outcome. Further studies are needed to investigate the underlying mechanism of these proinflammatory cytokines in diabetes development. A strong positive correlation was found between IL and 1α with glucose levels than with IL-1ß and IL-2. In conclusion, cytokines, especially IL-1, may play a critical role in the development of diabetes.

Assessing the Impact of Laparoscopic Cholecystectomy on Satisfaction, Quality of Life, and Cost-Effectiveness in Saudi Patients With Gallstone Disease: A Comprehensive Cross-Sectional Analysis.

INTRODUCTION: Cholelithiasis, or gallstone disease, is a prevalent medical condition with substantial global implications. Laparoscopic cholecystectomy (LC) has become the dominant surgical solution for treating various biliary conditions in affluent countries due to its numerous benefits, such as shorter hospital stays and reduced costs. An assessment of postoperative recovery, patient satisfaction, and quality of life (QoL) is crucial to judge the success of any medical procedure regarding long-term patient well-being. Given the scarcity of research on the satisfaction, QoL, and cost-effectiveness of LC among Saudi patients, this study seeks to fill this gap. METHODS: To achieve the study's objectives, a cross-sectional research study was conducted from January to December 2023, focusing on Saudi patients who had received LC for gallstone disease. We utilized an extensive questionnaire to determine patient satisfaction, QoL, and the perceived value of LC, which combined closed and open-ended questions to provide a holistic understanding. Additionally, an in-depth literature review was performed to compare our findings with existing research. RESULTS: Our survey received answers from 886 Saudi LC patients. Generally, participants showed satisfaction with LC, though complications were reported in a significant number of cases. However, a minority of participants were dissatisfied. Most respondents indicated a moderate enhancement in their QoL postsurgery. Notably, demographic factors like gender, age, and employment status had profound effects on satisfaction and QoL, with male participants more likely to report higher satisfaction and QoL than females. CONCLUSION: Our data firmly support the ongoing use of LC as the preferred surgical technique for treating biliary diseases in Saudi Arabia. They emphasize the benefits of personalizing care based on patient demographics to improve the overall experience. Proper communication, thorough preoperative planning, and attentive postoperative care are essential for achieving the best outcomes. Despite these findings, more research is needed, focusing on different patient demographics and comparing LC with other treatment methods to enhance our understanding of gallstone disease management in the Saudi context.

Endovascular Interventions for Peripheral Arterial Disease in Saudi Patients: A Cross-Sectional Study Assessing Efficacy and Economic Impact.

Introduction Peripheral Arterial Disease (PAD) is characterized by arterial narrowing or blockage, causing pain and reduced quality of life. Endovascular interventions, like angioplasty and stenting, offer less invasive treatment options with potential benefits. This study, conducted in the Al-Ahsa region of Saudi Arabia from January to August 2023, aims to assess the impact of these interventions on PAD management in Saudi patients. Specifically, we aim to evaluate their effectiveness in improving clinical outcomes, such as symptom relief and quality of life, and their cost-effectiveness in the Saudi healthcare system. By addressing these objectives, our research provides evidence to support informed clinical decisions and healthcare policy in Saudi Arabia, ultimately enhancing patient care. Methods In this study, a cross-sectional design was used to assess the impact of endovascular interventions on PAD management in Saudi patients in the Al-Ahsa region. Data collection took place from January to August 2023. The study focused on a sample of 385 or more Saudi patients who had undergone endovascular interventions. Inclusion criteria involved diagnosed PAD patients who had received these interventions, while non-Saudi patients and those without PAD or interventions were excluded. Data was collected through an online questionnaire distributed in hospitals. The study considered demographic and clinical/economic variables to evaluate intervention effectiveness and cost-effectiveness. Results The findings of this study emphasize the significance of variables such as gender, education level, employment status, and geographic location in shaping perceptions concerning the effectiveness and cost-effectiveness of endovascular interventions for the management of PAD. Participants in the study reported substantial improvements in symptom relief, quality of life, and daily activities following endovascular interventions. Moreover, the study revealed divergent perceptions regarding the cost-effectiveness of these interventions among participants. Conclusion This study highlights a positive association between the use of endovascular interventions and improved clinical outcomes in Saudi patients diagnosed with PAD. The results of this research indicate that endovascular interventions are not only more cost-effective when compared to alternative treatment modalities for PAD management but also lead to significant enhancements in symptom relief, quality of life, and daily activities among patients. The implications of these findings for the Saudi healthcare system are substantial, underscoring the importance of evidence-based decisions in the adoption of endovascular interventions for PAD management.

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy.

Epilepsy is a neurological disorder described as recurrent seizures mild to severe convulsions along with conscious loss. There are many different genetic anomalies or non-genetic conditions that affect the brain and cause epilepsy. The exact cause of epilepsy is unknown so far. In this study, whole-exome sequencing showed a family having novel missense variant c.1603C>T, p. Arg535Cys in exon 10 of Sodium Voltage-Gated Channel Alpha Subunit 1 (SCN1A) gene. Moreover, targeted Sanger sequencing analysis showed c.1212A>G p.Val404Ile in SCN1A gene in 10 unrelated patients and a mutation in Calcium Voltage-Gated Channel Auxiliary Subunit Beta 4 gene where one base pair insertion of "G" c.78_79insG, p.Asp27Glyfs*26 in the exon 3 in three different patients were observed from the cohort of 25 epileptic sporadic cases. The insertion changes the amino acid sequence leading to a frameshift mutation. Here, we have described, for the first time, three novel mutations that may be associated with epilepsy in the Saudi population. The study not only help us to identify the exact cause of genetic variations causing epilepsy whereas but it would also eventually enable us to establish a database to provide a foundation for understanding the critical genomic regions to control epilepsy in Saudi patients.

Efficacy and Safety of Empagliflozin in Type 2 Diabetes Mellitus Saudi Patients as Add-On to Antidiabetic Therapy: A Prospective, Open-Label, Observational Study.

The Saudi Food and Drug Authority (SFDA) approved sodium-glucose cotransporter-2 (SGLT2) inhibitors in 2018. The efficacy and safety of empagliflozin (EMPA) have been confirmed in the U.S., Europe, and Japan for patients with type 2 diabetes mellitus (T2DM); however, analogous evidence is lacking for Saudi T2DM patients. Therefore, the current study aimed to assess the efficacy and safety of EMPA in Saudi patients (n = 256) with T2DM. This is a 12-week prospective, open-label, observational study. Adult Saudi patients with T2DM who had not been treated with EMPA before enrolment were eligible. The exclusion criteria included T2DM patients less than 18 years of age, adults with type one diabetes, pregnant women, paediatric population. The results related to efficacy included a significant decrease in haemoglobin A1c (HbA1c) (adjusted mean difference −0.93% [95% confidence interval (CI) −0.32, −1.54]), significant improvements in fasting plasma glucose (FPG) (−2.28 mmol/L [95% CI −2.81, −1.75]), and a reduction in body weight (−0.874 kg [95% CI −4.36, −6.10]) following the administration of 25 mg of EMPA once daily as an add-on to ongoing antidiabetic therapy after 12 weeks. The primary safety endpoints were the change in the mean blood pressure (BP) values, which indicated significantly reduced systolic and diastolic BP (−3.85 mmHg [95% CI −6.81, −0.88] and −0.06 mmHg [95% CI −0.81, −0.88], respectively) and pulse rate (−1.18 [95% CI −0.79, −3.15]). In addition, kidney function was improved, with a significant reduction in the urine albumin/creatinine ratio (UACR) (−1.76 mg/g [95% CI −1.07, −34.25]) and a significant increase in the estimated glomerular filtration rate (eGFR) (3.54 mL/min/1.73 m2 [95% CI 2.78, 9.87]). Furthermore, EMPA reduced aminotransferases (ALT) in a pattern (reduction in ALT > AST). The adjusted mean difference in the change in ALT was −2.36 U/L [95% CI −1.031, −3.69], while it was −1.26 U/L [95% CI −0.3811, −2.357] for AST and −1.98 U/L [95% CI −0.44, −3.49] for GGT. Moreover, in the EMPA group, serum high-density lipoprotein (HDL) significantly increased (0.29 mmol/L [95% CI 0.74, 0.15]), whereas a nonsignificant increase was seen in low-density lipoprotein (LDL) (0.01 mmol/L [95% CI 0.19, 0.18]) along with a significant reduction in plasma triglyceride (TG) levels (−0.43 mmol/L [95% CI −0.31, −1.17]). Empagliflozin once daily is an efficacious and tolerable strategy for treating Saudi patients with insufficiently controlled T2DM as an add-on to ongoing antidiabetic therapy.

Association of Vitamin D Deficiency and Vitamin D Receptor Genetic Variants With Coronary Artery Disease in Type 2 Diabetic Saudi Patients.

BACKGROUND/AIM: Vitamin D deficiency accelerates the onset of type 2 diabetes mellitus (T2DM). Polymorphisms in the vitamin D receptor (VDR) have been linked to coronary artery disease (CAD). This study aimed to evaluate the association of vitamin D deficiency and VDR polymorphism with CAD in T2DM. PATIENTS AND METHODS: A total of 150 adult male and female subjects, aged from 40 to 60 years, were divided into three groups, each with 50 subjects; control group, T2DM, and T2DM with CAD. Fasting blood glucose (FBG), total cholesterol (TC), triglycerides (TG), HDL-C, LDL-C, glycosylated hemoglobin (HbA1c), and 25-hydroxyvitamin D (25-OH D) were assessed. VDR genotypes (BsmI, Taq1 and FOK1) were investigated by polymerase chain reaction fragment length polymorphism. RESULTS: There was a significant negative correlation between serum 25-OH D and FBG, TC, TG, and LDL-C levels, and a positive correlation with HDL-C levels in all diabetic patient groups. The risk of CAD was markedly higher in the group of T2DM with CAD in comparison to the control (p<0.0001) and the T2DM group. Regarding Taq1, there was also a significantly higher risk of CAD in Tt+tt genotypes and t allele in the T2DM with CAD group compared to control (p<0.001, 0.031 respectively). In addition, 25-OH D concentrations and the prevalence of VDR polymorphisms (BsmI, Taq1) were correlated with the risk of CAD. CONCLUSION: Deficiency of vitamin D and the prevalence of VDR polymorphisms (BsmI, Taq1) can serve as important markers for CAD.

Sacral Neuromodulation for Lower Urinary Tract Symptoms: Effect of Therapy on Saudi Patient Sexual Function.

BACKGROUND: Sacral neuromodulation (SNM) is FDA-approved therapy for lower urinary tract and bowel dysfunction. It is newly introduced therapy in Saudi Arabia. AIM: To evaluate the effect of SNM therapy in both male and female Saudi patient's sexual function. METHODS: A prospective cohort study was conducted for all patients who underwent SNM implantation from January 2016 till January 2020 at a single center in Jeddah, Saudi Arabia. Sexual function was assessed before and after treatment using International Index of Erectile Function (IIEF-5) for men and the Female Sexual Function Index (FSFI) for women. MAIN OUTCOME MEASURES: Sexual function score changes from the baseline was reported. Correlation analysis was studied between IIEF-5 to assess erectile dysfunction and FSFI assessing desire, arousal, orgasm, pain and sexual satisfaction and other collected data including patient's age, functional diagnosis and post void residual (PVR). RESULTS: The study included 13 total patients (8 female, 5 male) with mean age 47y (33-60). Diagnosis included non-obstructive urine retention (5), refractory overactive bladder (3), combined retention + over active bladder (OAB) (1), pelvic pain syndrome (3) and impotence in 1 patient. All male patients showed significant improvement in their IIEF-5 score from mean pre op 7.8 ±5.7 to post op sore of 19.8±2.3 with significant p value p=0.003. Female patients showed significant improvement in their FSFI total score from baseline of 18.313±7.4 to post-operative mean FSFI score 26.7±1.8 with p value = 0.013. Domains od FSFI which showed significant improvement were desire, arousal, orgasm and sexual satisfaction with p value =0.002, p=00.1,0.012, and p=0.015. Age, functional diagnosis and PVR did not show significant correlation with IIEF-5 and FSFI score. CONCLUSION: Our results suggest that SNM might improve male and female sexual dysfunction regardless of patient's age and diagnosis. Banakhar MA, Younos A. Sacral neuromodulation for lower urinary tract symptoms: effect of therapy on Saudi patient sexual function. Sex Med 2021;9:100388.

Association of toll-like receptors 2, 4, 9 and 10 genes polymorphisms and Helicobacter pylori-related gastric diseases in Saudi patients.

Purpose: Helicobacter pylori is one of the most prevalent human pathogens worldwide. However, the outcomes of H. pylori infection are markedly variable from asymptomatic mild lesion to malignant transformation. Many factors are suggested to influence these infection outcomes, including host immunity and genetic susceptibility. Toll-like receptors (TLRs) can recognise different microbial components and play an essential role in the mucosal immune response against H. pylori infection. Materials and Methods: The association between the common single nucleotide polymorphisms (SNPs) in the genes of TLR2, 4, 9 and 10 and H. pylori-related gastric diseases were investigated by molecular methods after the confirmation of H. pylori infection. The study included 210 patients in three groups; chronic gastritis (n = 90), peptic ulcer disease (PUD) (n = 75) and gastric carcinoma (n = 45). Results: The results showed a significant association between TLR4 SNPs (rs 4986790 and rs 4986791) and the presence of H. pylori infection, especially in chronic gastritis patient group. Furthermore, TLR9-rs352140 TT genotype was more prevalent among chronic gastritis patient group. TLR10-rs 10004195 TT genotype was found to be less prevalent among H. pylori-related chronic gastritis and PUD and was suspected to have a protective effect. TLR2 SNPs (rs3804099 and rs3804100) showed no significant statistical difference between H. pylori-infected patients and the controls. Conclusion: TLR genes polymorphisms may play a role in H. pylori infection susceptibility and may influence its outcomes; however, the ethnic and other factors may modify this effect.

Long Noncoding RNAs as Prognostic Markers for Colorectal Cancer in Saudi Patients.

Background: Long noncoding RNAs (lncRNAs) have recently been recognized as a new layer of biological regulation. They participate in mRNA regulation and may be useful as prognostic factors and drug targets. Colorectal cancer (CRC) is a common tumor that is characterized by its high mortality rate. Despite improvements in screening of CRC, the prognosis is still poor. Therefore, there is an urgent need to develop effective biomarkers for the detection of CRC. This study was designed to measure the expression of several oncogenic lncRNAs, including PANDAR, MALAT1, PCAT6, CCAT1, UCA1, MEG3, CCAT2, and BCAR4, in blood samples of healthy individuals and CRC patients. Methods: Total RNA was isolated from whole blood of 63 CRC patients and 40 controls and the expression of the lncRNAs was determined by real-time polymerase chain reaction and measured by REST2009 software. All p-values <0.05 were considered statistically significant. Results: The results showed that the expression levels of MALAT1, CCAT1, and PANDAR were significantly upregulated with 1.86, 4.54, and 4.68-fold higher levels (p < 0.05), respectively, in the blood of CRC patients compared to the controls. However, the other lncRNAs examined were not significantly expressed differentially in CRC blood samples. Conclusion: The findings of this study suggest that the expression of MALAT1, CCAT1, and PANDAR in blood could serve as potential biomarkers for CRC prognosis.

Three-Dimensional Assessment of the Oral Health-Related Quality of Life Undergoing Fixed Orthodontic Therapy.

AIMS AND OBJECTIVES: Discomfort associated with the use of fixed orthodontic appliances may have a negative influence on the patient's oral health-related quality of life (OHRQoL). In general, OHRQoL assessments have the potential to provide information on the need to improve the overall quality of care. This study aims to assess the impact of fixed orthodontic appliances on OHRQoL of Saudi population and to explore the impact of the patient's gender and age on perceived treatment. SUBJECTS AND METHODS: This cross-sectional study used a generic measure of OHRQoL the Arabic version of the Oral Health Impact Profile (OHIP-14), which is a responsive measure to changes in oral health conditions. Data were collected using self-completed e-questionnaire which was distributed through social media and were analyzed using Statistical Package for Social Sciences (SPSS) version 21.0. RESULTS: A total of 149 subjects, 110 (73.8%) were females and 39 (26.2%) were males. Adolescents between 13 and 20 years were 63 (42.3%) and adults between 21 and 30 years were 86 (75.7%). A response rate of 100% was obtained. The prevalence of oral health impacts according to OHP-14 was 22.5%. OHIP-14 consists of 14 items covering seven domains. A three-dimensional structure was used to test the existence of separate dimensions: functional limitation, pain discomfort, and psychosocial impact. A significant difference was found between males and females in the first dimension (P = 0.038) and the third dimension (P = 0.022). In addition, a significant difference was also found between the two age groups included in the study within the third dimension (P = 0.025). CONCLUSION: Fixed orthodontic appliances had an evident impact on OHRQoL. However, males had significantly altered functional limitations while females had a higher psychological impact. Furthermore, adults had a significantly higher psychological impact than adolescents.

Body Mass Index and Helicobacter pylori among Obese and Non-Obese Patients in Najran, Saudi Arabia: A Case-Control Study.

Objective: We examine obese and non-obese patients with respect to Helicobacter pylori (H. pylori) positive-infection (HPPI) and associated factors, specifically body mass index (BMI). Methods: This study took place in the Department of Endoscopy of a central hospital in the Najran region of Saudi Arabia (SA). A total of 340 obese Saudi patients (BMI ≥ 30 kg/m²) who had undergone diagnostic upper endoscopy before sleeve gastrectomy, were compared with 340 age and gender-matched control patients (BMI < 30 kg/m²) who had undergone diagnostic upper endoscopy for other reasons. Data collected included diagnosis of HPPI. Descriptive and multivariable binary logistic regression was conducted. Results: Mean patient age was 31.22 ± 8.10 years, and 65% were males. The total prevalence of HPPI was 58% (95% CI = 54⁻61%) with obese patients presenting significantly more HPPI than non-obese patients (66% vs. 50%, OR = 1.98, 95% CI = 1.45⁻2.70, p < 0.0005). Age and gender did not associate significantly with HPPI (p = 0.659, 0.200, respectively) and increases in BMI associated significantly with increases in HPPI (p < 0.0005). BMI remained a significant factor in HPPI when modelled with both age and gender (OR = 1.022, 95% CI = 1.01⁻1.03, p < 0.0005). Conclusions: Within the limitations of this study, the significance of HPPI in obese Saudi patients residing in the Najran region in SA was demonstrated alongside the significance role of BMI in HPPI.

Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

BACKGROUND: Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation and more recently, early-onset dystonia parkinsonism. METHOD: Targeted-next generation sequencing using a custom Neurology panel, containing 758 OMIM-listed genes implicated in neurological disorders, was carried out in two index cases from two different Saudi families displaying early-onset levodopa-responsive Parkinsonism with pyramidal signs and additional clinical features. The detected mutations were verified in the index cases and available family members by direct sequencing. RESULTS AND CONCLUSION: We identified a previously described PLA2G6 homozygous p.R741Q mutation in three affected and two asymptomatic individuals from two Saudi families. Our finding reinforces the notion of the broadness of the clinical spectrum of PLA2G6-related neurodegeneration.

Deletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children.

Duchenne and Becker muscular dystrophy (DMD and BMD) are caused, in the majority of cases, by deletions in the dystrophin gene (DMD). The disease is an X-linked neuromuscular diseases typically caused by disrupting (DMD) or non-disrupting (BMD) the reading frame in the dystrophin (DMD) gene. In the present study, amplifications of the genomic DNAs of unrelated 15 Saudi DMD males were carried out using multiplex polymerase chain reaction (PCR) for nine-hotspot regions of exons 4, 8, 12, 17, 19, 44, 45, 48 and 51. We detected six Saudi patients having deletions in a frequency of 40%. The frequency of deletions in exon 51 (20%) was the most common deletion frequently associated with our Saudi sample males. Exons 19, 45, and 48 were present in a frequency of 6.7% each. All deletions were recognized as an individual exonic deletions, while no gross deletion where detected. Finally, the molecular deletions in the Saudi males was expected to be characterized by a moderate frequency among different populations due to the geographical KSA region, which it is in the crossroad of intense migrations and admixture of people coming from continental Asia, Africa, and even Europe. In conclusion, attempts to include an extra DNA samples might reflect a valid vision of the deletions within the high frequency deletion regions (HFDR's) in the DMD gene mutations in KSA.

Incidence of helicobacter pylori in dental plaque of saudi gastritis patients.

BACKGROUND: Helicobacter pylori (H. pylori) was identified in dental plaque, raising the possibility of future gastritis and peptic ulceration. OBJECTIVE: This trial was to study the association between presence of H. pylori in dental plaque and in the stomachs of patients with gastritis; the effect of oral hygiene and periodontal condition on the stomach. PATIENTS AND METHODS: Seventy-five Saudi adult dyspeptic patients, together with 60 healthy persons as control. Two samples of dental plaque were taken from gingival crevice of deepest pocket. One sample was kept in Christensen's urea agar and incubated for H. pylori detection by rapid urease test. The second sample was kept in 5% sheep blood agar, chocolate agar and a selective medium to culture the H. pylori. Gastric urease test was done for the same patients. RESULTS: (1) Plaque urease test results showed 89% positive patients. (2) Dental plaque Index:- Mild dental plaque accumulation in 24%, moderate in 41%, while severe accumulation was in 35% of the patients. (3) Gingival Index: Showed mild, moderate and severe gingivitis in 17%, 48% and 35% of patients, respectively. (4) Community periodontal index of treatment needs (CPITN): Showed gingivitis, mild periodontitis and moderate periodontitis in 50%, 23% and 27% of patients, respectively. (5)Gastric urease results: 87% of patients were positive. (6)All cultured samples results were negative CONCLUSION: The ability to detect H. pylori in dental plaque samples offers a potential for a noninvasive test for gastric infection and would lend support for oral spread of H. pylori as the princi-pal mode of transmission. However, the presence of H. pylori in dental plaque and in the stomach (in gastritis patients) could permit not only a target for therapeutic procedures but also a monitor-ing tool for the efficacy of therapy.