What is cystic fibrosis screen positive inconclusive diagnosis? And what is it not?

Since screening for cystic fibrosis (CF) was incorporated into the newborn screening program, the number of recognised variants in the CF transmembrane conductance regulator (CFTR) gene has significantly increased. This has led to the discovery of combinations of gene variants with an uncertain prognosis. One outcome is the designation of 'cystic fibrosis screen positive inconclusive diagnosis' (CFSPID). While the majority of these children are expected to be unaffected by their CFTR variants, a small proportion have been seen to develop symptoms or increasing sweat chloride levels over time, which may reflect dysfunction of the CFTR protein.As the number of children with CFSPID increases, paediatricians and those working in primary care are more likely to encounter them in their practice. It is important that professionals have an understanding of CFSPID: what it is and, importantly, what it is not (ie, they do not have CF). In this article, we hope to explore this using some example cases, illustrating the ways in which these children may present symptomatically and how to manage them.

Validity and reliability of the Arabic version of the population postpartum depression literacy scale (PoDLiS): a web-based survey in Saudi Arabia.

BACKGROUND: Proper knowledge about postpartum depression (PPD) will help recognize symptoms and encourage women to seek the needed professional help. Until now, there has been a scarcity of research on the literacy level of PPD among the Saudi population and the factors affecting it. This study translated the Postpartum Depression Literacy Scale (PoDLiS) into Arabic and evaluated its psychometric properties. Furthermore, the Saudi population's mental health literacy for PPD and the factors associated with it were examined as a secondary objective. METHODS: This cross-sectional study involved 2,336 participants selected via convenience sampling from all over Saudi Arabia, all of whom willingly agreed to participate. Data collection was done through an online questionnaire using Google Forms, covering sociodemographic characteristics and the Arabic PoDLiS. RESULTS: The Arabic version of PoDLiS showed acceptable goodness-of-fit between the observed data and the resulting six-factor solution, RMSEA = 0.049, 90% confidence interval RMSEA (0.010-0.050), pCLOSE = 0.742, CFI = 0.962, TLI = 0.940, χ2(270) = 1576.12, p-value = 0.742. The total Cronbach's alpha (α) of the PoDLiS showed acceptable internal consistency, measuring at 0.742. High literacy was seen in married and young participants with a postgraduate degree and sufficient household income who have known someone with PPD. Significantly lower literacy was seen in male, non-Saudi participants and those residing in the central and northern regions of Saudi Arabia. CONCLUSIONS: The Arabic version of the PoDLiS showed good psychometric properties, and it can be used to assess PPD literacy among perinatal women and to examine the impact of PPD awareness programs. Despite reporting relatively good PPD literacy in the Saudi population, there is a persistent gap in participants' beliefs about available professional help and the attitudes that facilitate recognizing PPD. Our findings highlight the importance of implementing public education campaigns to improve overall knowledge about PPD and promote prevention, early recognition, and treatment of PPD.

Navigating the Knowledge of Risk Factors, Warning Signs, of Stroke - A Community-Based Cross-Sectional Study Among Saudi Adults in Riyadh Saudi Arabia.

Background: The incidence of stroke is increasing in everyday life as a result of modifiable cerebrovascular risk factors and aging. Therefore, the goal of this study was to assess knowledge of the risk factors, and warning signs, of stroke and to determine associated demographic factors among individuals living in Riyadh, Saudi Arabia. Methods and Materials: A cross-sectional online study using a convenience sampling of general population living in Riyadh was carried out over three months in 2023 using a series of questionnaires that was adopted from the previous study. Before data collection, the study tool was subjected to pilot testing among a small sample of individuals to validate for consistency and reliability. The data was collected using social media platforms. A statistical package for the social science (SPSS version 27) was used. Results: Four hundred and sixty-two individuals completed the survey. Among those 69.5%, identified hypertension as a risk factor for stroke followed by hyperlipidemia (42.9%), heart disease (44.8%). In addition, most of the respondents (n = 332, 71.9%) knew that numbness or weakness of the face and/or limbs of the body was a warning sign of stroke. In this, 73.5% (n=249) of the respondents agreed that if they saw an individual suffering from a stroke, they would like to take the patient to the hospital immediately. However, there was a significant association between the knowledge of the respondents about the risk factor of stroke and educational degree (p=0.011), and parents working in healthcare settings (p =0.015). Conclusion: In conclusion it was observed that a significant respondents had an adequate knowledge of stroke risk factors, while most were unaware of the early warning signs of a stroke. To promote primary prevention and early management/outcomes, we advise that future regional campaigns focus on raising knowledge and recognition of stroke symptoms.

Association between sleep duration and dental caries in a nationally representative U.S. population.

BACKGROUND: Dental caries is considered one of the most prevalent chronic diseases worldwide despite all dental public health efforts. Short sleep duration has been established as a risk factor for several medical conditions. In this study, we aimed to examine the relationship between sleep duration and dental caries. METHODS: Data were collected from the 2017-2018 cycle of the National Health and Nutrition Examination Survey, a nationally representative health survey conducted in the United States. Participants who completed sleep questionnaires were examined by dentists using standardized clinical criteria. Analysis was limited to Individuals aged ≥ 16 years with complete clinical oral examination data and who completed the sleep questionnaire (N = 5,205). The data were weighted to provide a national estimate, and multiple potential covariates were included in the analysis to account for the complex sample design. The main outcomes of the study were untreated dental caries and dental caries experience. The main predictor variables were average sleep hours/night and a binary variable with 7 h/night as a cut off. Multiple weighted Poisson and logistic regression analyses were conducted to test the hypothesis that people with short sleep duration are more likely to exhibit dental caries. RESULTS: This study showed a statistically significant negative relationship between sleep duration and dental caries amongst all weighted adjusted analyses conducted. For a one hour increase in average sleep hours, the Adjusted Odds Ratio (AOR) of having a dental caries experience might decrease by 0.86 (AOR = 0.86, 95% CI = 0.75-0.98, P < 0.05). Individuals who reported an average sleep of ≥ 7 h were less likely to have a dental caries experience compared to individuals who reported an average sleep of < 7 h (AOR = 0.52, 95% CI = 0.33-0.82, P < 0.05). For a one hour increase in average sleep hours, the Adjusted Mean Ratio (AMR) of having a dental caries experience might decrease by 0.97 (AMR = 0.97, 95% CI = 0.96-0.99, P < 0.05), and was lower for those who reported sleeping ≥ 7 h/night than individuals who reported sleeping < 7 h/night (AMR = 0.92, 95% CI = 0.87-0.99, P < 0.05). CONCLUSION: Findings of this cross-sectional representative study of the U.S. population revealed a statistically significant negative association between sleep duration and dental caries. In this study, individuals who slept < 7 h/night were more likely to exhibit dental caries.

Self-reported long COVID-19 symptoms are rare among vaccinated healthcare workers.

INTRODUCTION: COVID-19 pandemic adversely affected healthcare workers (HCWs). Here, we evaluate the occurence of long-COVID-19 symtoms among HCWs. METHODS: This is a questionnaire-based study of HCWs who had COVID-19 in two medical centers in Saudi Arabia and were mostly vaccinated. RESULTS: The study included 243 HCWs with a mean age (+ SD) of 36.1 (+ 7.6) years. Of them, 223 (91.8%) had three doses of COVID-19 vaccine, 12 (4.9%) had four doses, and 5 (2.1%) had two doses. The most common symptoms at the start of the illness were cough (180, 74.1%), shortness of breath (124, 51%), muscle ache (117, 48.1%), headache (113, 46.5%), sore throat (111, 45.7%), diarrhea (109, 44.9%) and loss of taste (108, 44.4%). Symptoms lasted for< one week in 117 (48.1%),> one week and< 1 month in 89 (36.6%),> 2 months and< 3 months in 9 (3.7%), and> 3 months in 15 (6.2%). The main symptoms present> 3 months were hair loss (8, 3.3%), cough (5, 2.1%), and diarrhea (5, 2.1%). A binomial regression analysis showed no relationship between persistence of symptoms for> 3 months and other demographic or clinical symptoms characteristics. CONCLUSION: The study showed a low rate of the occurence of long-COVID> 3 months during the Omicron-wave among mostly vaccinated HCWs with no significant comorbidities. Furhter studies are needed to examine the effect of different vaccines on long-COVID-19 among HCWs.

Biomimetic Whitening Effect of Polyphosphate-Bleaching Agents on Dental Enamel.

This in vitro study investigated the extrinsic tooth-whitening effect of bleaching products containing polyphosphates on the dental enamel surface compared to 10% carbamide peroxide (CP). Eighty human molars were randomly allocated into four whitening-products groups. Group A (control) was treated with 10% CP (Opalescence). The other groups with non-CP over-the-counter (OTC) products were group B = polyphosphates (iWhiteWhitening-Kit); group C = polyphosphates+fluoride (iWhite-toothpaste); and group D = sodium bicarbonate (24K-Whitening-Pen). L*, a*, b* color-parameters were spectrophotometer-recorded at baseline (T0), one day (T1), and one month (T2) post-treatment. Changes in teeth color (ΔEab) were calculated. Data were analyzed using ANOVA and the Bonferroni test (α = 0.05). Groups A, B, and D showed significant differences in ΔL*&Δa* parameters at T1, but not in Δb* at T0. Group C showed no difference for ΔL*, Δa*, Δb* at T0 and T1. Group A showed differences for ΔL*, Δa*, Δb*, at T2, while groups B, C, and D had no difference in any parameters at T0. At T1, ΔEab values = A > D> B > C (ΔEab = 13.4 > 2.4 > 2.1 > 1.2). At T2, ΔEab values increased = A > B > C > D (ΔEab = 12.2 > 10.6 > 9.2 > 2.4). In conclusion, the 10% CP and Biomimetic polyphosphate extrinsic whitening kit demonstrated the highest color change, while simulated brushing with dark stain toothpaste and a whitening pen demonstrated the lowest color change at both measurement intervals.

Early mobilization of mechanically ventilated ICU patients in Saudi Arabia: Results of an ICU-wide national survey.

BACKGROUND: Improved outcomes for patients on mechanical ventilation may be achieved with early mobilization (EM). However, it is not clear how widely this strategy is adopted into routine intensive care unit (ICU) practice in Saudi Arabia. OBJECTIVES: This study was conducted to describe the present practices and challenges to providing EM for mechanically ventilated patients, which may drive dissemination and implementation activities. METHODS: We approached 205 ICUs across Saudi Arabia using a validated tool to assess ICU characteristics, the practices of EM for mechanically ventilated patients, and the barriers to providing EM. RESULTS: We approached 205 ICU persons in charge and achieved a 65% response rate (133 ICUs). The prevalence of EM for mechanically ventilated patients was 47% (63 ICUs). A total of 85 (64%) of the respondents reported having no previous training in EM. The absence of a written protocol was reported by 55% of the ICU practitioners in charge, 36% started EM within 2 to 5 days of critical illness, and 35% reported that performing EM for mechanically ventilated patients was totally dependent on physicians' orders. Forty-seven percent of the ICUs that practised EM had at least one coordinator or person in charge of facilitating EM. The highest level of EM with mechanically ventilated patients was 35/63 (55%) with patients remaining in-bed and 28/63 (45%) with patient getting out of bed. A majority of the respondents (39, 64%) performed EM once daily for an interval period of more than 15 min. Previous training in EM and years of experience of the ICU person in charge were significant factors that promoted EM for mechanically ventilated ICU patients (OR: 7.6 (3.37-17.26); p < 0.001 and OR: 1.07 (1.01-1.14), p = 0.004, respectively). Existing protocols increased the odds of starting EM within 2 to 5 days of critical illness by six-fold (OR: 6.03 (1.79-20.30); p = 0.004). No written guidelines/protocols available for EM, medical instability, and limited staff were the most common hospital-, patient- and health care provider-related barriers to EM in the ICUs, respectively. CONCLUSION: The prevalence of EM for mechanically ventilated patients across Saudi Arabia was 47%, although only 36% of the ICU staff had previous training in EM. Targeting modifiable barriers to EM, including a lack of training, guidelines and protocols, and staffing, will help to promote EM in Saudi Arabian ICUs.

A Novel Frameshift Mutation in the ITGB3 Gene Leading to Glanzmann's Thrombasthenia in a Saudi Arabian Family.

Glanzmann's thrombasthenia (GT) is an autosomal recessive congenital bleeding disorder of platelet aggregation. Mutations in ITGA2B and ITGB3 genes result in quantitative and/or qualitative abnormalities of the glycoprotein receptor complex IIb/IIIa (integrin αIIbß3), which in turn impairs platelet aggregation and lead to GT. In this study, whole genome single nucleotide polymorphism (SNP) genotyping as well as whole exome sequencing was performed in a large family segregating GT. Analysis of the genotypes localized the disease region to chromosome 17q21.2-q21.3. Filtration of whole exome data and candidate variants prioritization identified a pathogenic variant in the ITGB3 gene. The single nucleotide deletion variant (c.2113delC) in exon 13 of the ITGB3 gene is predicted to cause a frameshift and absence of vital C-terminal domains including the transmembrane helix and the cytoplasmic domain. Clinical variability of the bleeding phenotype in affected individuals with the same mutation suggests that other genetic and nongenetic factors are responsible for determining GT features.

Beneficial Regulation of Cellular Oxidative Stress Effects, and Expression of Inflammatory, Angiogenic, and the Extracellular Matrix Remodeling Proteins by 1α,25-Dihydroxyvitamin D3 in a Melanoma Cell Line.

The causes of cancer include the cellular accumulation reactive oxygen species (ROS), which overrides the cellular antioxidants such as superoxide dismutase, from intrinsic aging, genetics, and exposure to environmental pollutants and ultraviolet (UV) radiation. The ROS damage biomolecules such as DNA (including p53 gene), RNA, and lipids, and activate inflammatory, angiogenic, and extracellular matrix (ECM) remodeling proteins; which collectively facilitate carcinogenesis. The 1α,25-dihydroxyvitamin D3 (Vitamin D) has anti-carcinogenic potential from its antioxidant, anti-inflammatory, and endocrine properties. We examined the anti-carcinogenic mechanism of vitamin D through the beneficial regulation of oxidative stress effects (oxidative DNA/RNA damage, superoxide dismutase expression, membrane damage, and p53 promoter activity), and expression (at the protein, mRNA and/or promoter levels) of inflammatory mediators (interleukin-1 (IL-1) and tumor necrosis factor-α (TNF-α)), angiogenic mediators (transforming growth factor-ß (TGF-ß), and vascular endothelial growth factor (VEGF)), and the ECM remodeling proteins (matrix metalloproteinases (MMP)-1 and MMP-2) by vitamin D in melanoma cells. Vitamin D inhibited oxidative DNA/RNA damage and membrane damage; and stimulated superoxide dismutase expression and p53 promoter activity in melanoma cells. It inhibited the expression of IL-1, TNF-α, TGF-ß, VEGF, MMP-1 and MMP-2 by transcriptional or post-transcriptional mechanisms. We conclude that vitamin D is beneficial to melanoma cells through the inhibition of oxidative DNA/RNA damage, membrane damage, and the expression of inflammatory, angiogenic and ECM remodeling proteins; and the stimulation of superoxide dismutase expression and p53 promoter activity.

Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.

Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibits associated symptoms including contractures of muscles, kyphoscoliosis, spondylodysplasia, dermatosparaxis, periodontitis, and arthrochalasia. The aim of this study is to determine the exact subtype of EDS by molecular genetic testing in a family segregating EDS in an autosomal recessive manner. Herein, we describe a family with two individuals afflicted with EDS. Whole exome sequencing identified a homozygous missense mutation (c.2050G > A; p.Glu684Lys) in the COL1A1 gene in both affected individuals, although heterozygous variants in the COL1A1 are known to cause EDS. Recently, only one report showed homozygous variant as an underlying cause of the EDS in two Saudi families. This is the second report of a homozygous variant in the COL1A1 gene in a family of Saudi origin. Heterozygous carriers of COL1A1 variant are asymptomatic. Interestingly, the homozygous variant identified previously and the one identified in this study are same (c.2050G > A). The identification of a unique homozygous mutation (c.2050G > A) in three Saudi families argues in favor of a founder effect.

Concurrent pulmonary and hepatic hydatid cysts managed with single stage surgery.

Most of the case reports on hydatid cyst have documented its diagnosis and treatment involving either lungs or liver. This case report is unique as it documents the standard diagnostic and treatment approach followed for curing concurrent multiple hydatid cysts involving liver and right lung simultaneously via single stage surgery. A 52-year-old male presented with symptoms of simple pneumonia along with mild pain in the right upper quadrant. Hydatid cyst was considered as the differential diagnosis after physical examination. Both CT scan and MRI confirmed the presence of multiple cysts both in the liver as well as right lung. A single stage radical removal of cysts from both the organs was performed. The patient was hemodynamically stable, and no complications were reported postoperatively. This case report highlights the importance of considering hydatid cyst as a differential diagnosis in the light of vague presenting symptoms. Also, it emphasizes on the benefits of single stage surgery for removing cysts from both the organs simultaneously.

Physicians' Perspective on Diabetes Mellitus Management within the Context of Personalized Medicine Era in Tabuk Governorate, Saudi Arabia.

BACKGROUND: Minimizing the number of therapy failures and decreasing the diabetic complications can be achieved by the application of personalising diabetes therapy, based on patient`s genetics, however, currently, personalised Medicine (PM) in diabetes mellitus management is not extensively applied. AIM: To assess the knowledge, attitudes, and willingness of physicians in practising of PM in diabetes management. METHODS: A cross-sectional analytical study was implemented among 126 physicians from six different governmental hospitals and 12 primary care centres selected by the stratified random sampling technique in the Tabuk region of Saudi Arabia. A structured self-administered questionnaire was utilised for data collection. A simple scoring system (scale of 5 points) was utilised to assess knowledge and willingness. Likert scale was applied to evaluate the attitudes towards practising PM in DM management by the fixed choice response formats. RESULTS: The majority of the participants (97.62%) claimed not receiving any PM and/or genomic medicine training. Most of them (82.54%) expressed unsatisfactory knowledge concerning personalised DM, whereas the medium level of attitudes was reported among 57.14% of them and a good level of willingness had been observed among 76.98% of the physicians. CONCLUSION: Emphasizing on essential personalised DM management knowledge aspects should be given a considerable priority. Fortunately, positive attitudes and goodwill of physicians towards PM are encouraging and should be supported by policymakers.

Knowledge, attitude, and practice toward evidence-based medicine among hospital physicians in Qassim Region, Saudi Arabia.

OBJECTIVES: To determine the knowledge, attitude, and practice regarding evidence-based medicine (EBM) among hospital physicians in Qassim region of Saudi Arabia. METHODS: It is a cross-sectional study. A self-administered questionnaire survey was done among 288 physicians working in secondary and tertiary care centers. The study was conducted between June and September 2015. RESULTS: The overall response rate for the survey was 72%. Majority of the respondents had a positive attitude toward EBM and welcomed the concept. A total of 83% respondents stated that they used EBM in their daily practice and 93.5% agreed that practicing EBM improves patient care. There was a moderate level of awareness regarding extracting information from journals and clinical evidence databases. Although the respondents were aware and demonstrated familiarity with the process of knowledge extraction procedures to determine the best care, as many as 40% did not use them. The respondents had a poor overall understanding of the technical terms used in EBM. Among the respondents, 38.5% thought that the best way to move from opinion-based medicine to EBM was through learning the skills of EBM. The factors that positively affected physician awareness included: Academic qualification and professional title. Knowledge and attitude were affected by qualification, professional title and specialty. CONCLUSION: The attitude of most physician practitioners in this study is favorable toward EBM, but this was not correlated with knowledge and awareness. The inclusion of physician training courses in EBM concepts, technical terms and applied practice is highly recommended.