Specification, validation, and adherence of quality indicators to optimize the safe use of nonsteroidal anti-inflammatory drugs for knee osteoarthritis pain in the primary care setting.

BACKGROUND: Nonsteroidal anti-inflammatory drugs (NSAIDs) used for osteoarthritis (OA) in primary care may cause gastrointestinal or renal injury. This study estimated adherence to two quality indicators (QIs) to optimize NSAID safety: add proton pump inhibitors (PPI) to NSAIDs for patients with gastrointestinal (GI) risk (QI #1 NSAID-PPI) and avoid oral NSAIDs in chronic kidney disease (CKD) stage G4 or G5 (QI #2 NSAID-CKD). METHODS: This retrospective study included index primary care clinic visits for knee OA at our health system in 2019. The validation cohort consisted of a random sample of 60 patients. The remainder were included in the expanded cohort. Analysis of structured data extracts was validated against chart review of clinic visit notes (validation cohort) and estimated QI adherence (expanded cohort). RESULTS: Among 60 patients in the validation cohort, analysis of data extracts was validated against chart review for QI #1 NSAID-PPI (100% sensitivity and 91% specificity) and QI #2 NSAID-CKD (100% accuracy). Among 335 patients in the expanded cohort, 44% used NSAIDs, 27% used PPIs, 73% had elevated GI risk, and only 2% had CKD stage 4 or 5. Twenty-one percent used NSAIDs and had elevated GI risk but were not using PPIs. Therefore, adherence to QI #1 NSAID-PPI was 79% (95% CI, 74-83%). No patients with CKD stage 4 or 5 used NSAIDs. Therefore, adherence to QI #2 NSAID-CKD was 100%. CONCLUSION: A substantial proportion of knee OA patients with GI risk factors did not receive PPI with NSAID therapy during primary care visits.

ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity. Three novel loss of function (LoF) variants were identified in six patients from three families. Clinically, all patients presented anomalies of the aortic/pulmonary valves, which included thickening of valve leaflets, stenosis and insufficiency. Three patients had (recurrent) subaortic membrane, suggesting that ADAMTS19 is the first gene identified related to discrete subaortic stenosis. One case presented a bi-commissural pulmonary valve. All patients displayed some degree of atrioventricular valve insufficiency. Other cardiac anomalies included atrial/ventricular septal defects, persistent ductus arteriosus, and mild dilated ascending aorta. Our findings confirm that biallelic LoF variants in ADAMTS19 are causative of a specific and recognizable cardiac phenotype. We recommend considering ADAMTS19 genetic testing in all patients with multiple semilunar valve abnormalities, particularly in the presence of subaortic membrane. ADAMTS19 screening in patients with semilunar valve abnormalities is needed to estimate the frequency of the HVD related phenotype, which might be not so rare.

Common Mechanisms of Dyspnea in Chronic Interstitial and Obstructive Lung Disorders.

RATIONALE: The mechanisms underlying dyspnea in interstitial lung disease (ILD) and chronic obstructive pulmonary disease (COPD) are unknown. OBJECTIVES: To examine whether the relationship between inspiratory neural drive to the diaphragm and exertional dyspnea intensity is different in ILD and COPD, given the marked differences in static respiratory mechanics between these conditions. METHODS: We compared sensory-mechanical relationships in patients with ILD, patients with COPD, and healthy control subjects (n = 16 each) during incremental cycle exercise with diaphragmatic electromyography (EMGdi) and respiratory pressure measurements. MEASUREMENTS AND MAIN RESULTS: In patients with mild to moderate ILD or COPD with similarly reduced inspiratory capacity, the peak oxygen uptake, work rate, and ventilation were lower (P < 0.05) than in healthy control subjects. EMGdi expressed as a percentage of the maximum (EMGdi/EMGdi,max), respiratory effort (esophageal pressure expressed as percentage of the maximum), and ventilation were higher (P < 0.05) at rest and during exercise in both patients with ILD and patients with COPD than in control subjects. Each of these measurements was similar in the ILD and COPD groups. A Vt inflection and critically reduced inspiratory reserve volume occurred at a lower (P < 0.05) ventilation in the ILD and COPD groups than in control subjects. Patients with ILD had greater diaphragmatic activity, whereas patients with COPD had greater expiratory muscle activity. The relationship between dyspnea intensity and EMGdi/EMGdi,max during exercise was similar in all three groups. In ILD and COPD, descriptors alluding to inspiratory difficulty were selected more frequently, with a greater disparity between EMGdi/EMGdi,max and Vt. CONCLUSIONS: Disease-specific differences in mechanics and respiratory muscle activity did not influence the key association between dyspnea intensity and inspiratory neural drive to the diaphragm.

The Influence of Saudi Board of Emergency Medicine Residency Educators on Residents' Academic and Clinical Performance in Riyadh, Saudi Arabia.

INTRODUCTION: The Saudi Board of Emergency Medicine (SBEM) is required to assign educators including program directors to supervise their residents. These educators may impact the residents' academic and clinical performances. After thorough review, we noticed that the current literature lacks information about the direct influence of emergency medicine educators on their residents' academic and clinical performances. The main purpose of this study is to assess the residents' confidence level, and to measure the program directors' satisfaction of the residents' performances during their SBEM training years in Riyadh hospitals. METHODS: This concurrent mixed-methods study was conducted in nine training hospitals in Riyadh, Saudi Arabia, during the 2021-2022 academic year. For the quantitative aspect, a cross-sectional survey was used, based on a questionnaire administered to postgraduate year (PGY)-2 to PGY-4 SBEM residents (n=120) using a nonprobability convenient sampling technique. The survey aimed to assess residents' confidence in their academic and clinical performance, influenced by their educators. A Likert scale with a total of 25 items, covering the seven roles of the CANMEDs framework, was employed. This assessment utilized a published tool called the In-Training Evaluation Report. For the qualitative aspect, program directors' perspectives were gathered through one-on-one unstructured interviews (n=9), guided by theoretical saturation. A purposive sampling technique was employed to select program directors. The interview tool collected demographic data, including gender, years of experience, and training hospital, and included 17 open-ended questions to explore program directors' opinions. RESULTS: The result of mixed methods showed that both quantitative and qualitative data sets were divergent with all independent variables (resident's age, gender, and training level) with the exception of the training hospital which was convergent. Thus, the residents' confidence toward their academic and clinical performances induced by their institutional educators was high. However, the program directors indicated changes that related to residents' training level. CONCLUSION: The residents' confidence toward their academic and clinical performance induced by their institutional educators was high. The educators had a great deal of influence over the academic and clinical performance of the residents. However, the program directors thought there were some issues with the performance of the residents. Most of the program directors also believed that several influential factors that may have affected the residents' overall performance include stress and receipt of constructive feedback.

Heritable Pulmonary Arterial Hypertension in a Patient With Empty Sella Syndrome: A Case Report.

Pulmonary arterial hypertension (PAH) is a progressive disease with multiple contributing factors. Genetics, epigenetics, hormonal, and immune factors all contribute to the development and progression of the disease. A number of endocrine disorders and metabolic syndromes are being studied for their potential role in the development of PAH. We report to you a case of a 32-year-old female with a rare presentation of a non-BMPR2 mutation heritable PAH complicated with empty sella syndrome and panhypopituitarism.

Regulating the Electron Depletion Layer of Au/V2O5/Ag Thin Film Sensor for Breath Acetone as Potential Volatile Biomarker.

Human exhaled breath has been utilized to identify biomarkers for diseases such as diabetes and cancer. The existence of these illnesses is indicated by a rise in the level of acetone in the breath. The development of sensing devices capable of identifying the onset of lung cancer or diabetes is critical for the successful monitoring and treatment of these diseases. The goal of this research is to prepare a novel breath acetone sensor made of Ag NPs/V2O5 thin film/Au NPs by combining DC/RF sputtering and post-annealing as synthesis methods. The produced material was characterized using X-ray diffraction (XRD), UV-Vis, Raman, and atomic force microscopy (AFM). The results revealed that the sensitivity to 50 ppm acetone of the Ag NPs/V2O5 thin film/Au NPs sensor was 96%, which is nearly twice and four times greater than the sensitivity of Ag NPs/V2O5 and pristine V2O5, respectively. This increase in sensitivity can be attributed to the engineering of the depletion layer of V2O5 through the double activation of the V2O5 thin films with uniform distribution of Au and Ag NPs that have different work function values.

Cross-Sectional Assessment of Dermatologists' Knowledge and Attitude Towards Isotretinoin-Related Ocular Side Effects in Aseer, Saudi Arabia.

BACKGROUND: Acne vulgaris is a chronic inflammatory disease of the pilosebaceous unit, which includes the hair follicle, hair shaft and sebaceous gland. The only treatment that has an effect on all the main aetiological causes of acne is isotretinoin. However, it may have a variety of negative side effects. The aim of this study was to evaluate the knowledge and attitudes of dermatologists regarding ocular effects following isotretinoin prescribing in the Aseer region, Saudi Arabia. METHODOLOGY: An anonymous online cross-sectional survey was conducted in August 2022 to investigate dermatologists' knowledge and attitude regarding isotretinoin-related ocular side effects in Aseer, Saudi Arabia. Participants were recruited using convenience and snowball sampling methods. RESULTS: A total of 48 dermatologists were included in this survey. The age distribution ranged from 25 to over 60 years. Sixteen (37.5%) were aged 31-40 years, 29 (60.4%) were male and 20 (41.7%) were specialists. All dermatologists reported that it can cause dry eye, 32 (66.7%) reported that it can cause contact lens intolerance, 10 (20.8%) reported that it can cause a decrease in dark adaptation and two (4.2%) thought that it can cause ectopia lentis and retinoblastoma. Regarding attitude, 43 (87.5%) thought that a course of isotretinoin is not recommended if the patient has recently undergone refractive surgery, 30 (62.5%) always inform patients about ocular side effects, 31 (72.9%) do not consider referring patients for ophthalmic examinations before initiating isotretinoin, 12 (25.0%) always prescribe lubricant eye drops, 15 (31.3%) always ask patients about recent refractive surgery, 17 (35.4%) always warn patients about avoiding refractive surgery during isotretinoin use and 19 (39.6%) always inform patients concerning discomfort with contact lenses. CONCLUSIONS: The survey reveals that dermatologists in Aseer, Saudi Arabia, generally have good knowledge of isotretinoin related to some ocular side effects, especially dry eye and contact lens intolerance. However, there is some variation in their practices with regard to patient education, referrals for ophthalmic examinations, the use of lubricant eye drops and refractive surgery during isotretinoin treatment. Thus, dermatologists should receive educational training on the safety profile of isotretinoin while managing acne vulgaris.

Awareness of COPD and Its Risk Factors Among the Adult Population of the Aseer Region, Saudi Arabia.

Introduction: Epidemiological studies are urgently needed to assess the prevalence of COPD in the region to determine the baseline, against which the future trends in the risk factor levels can be assessed and preventive strategies be planned to promote health among the population. Therefore, this study was undertaken to assess the awareness of COPD and its risk factors in Saudi Arabia. Materials and Methods: The cross-sectional study was conducted among the general adult population aged 18 years and above living in the Aseer region. A minimum sample of 385 was targeted, using the Raosoft sample size calculator. An online questionnaire was prepared in both English and Arabic language using Google forms and distributed among participants through social media. Results: It was observed that less than one-third (116, 30.12%) of the study population had ever heard about COPD. Nearly one-third spent time with smokers. Among all, 223 (57.3%) respondents had never heard and 46 (11.9%) respondents did not know anything about COPD. The majority correctly knew that the lungs are the primary organ affected by COPD (92, 79.3%). Age, sex, marital status, income, and occupation showed a significant association with COPD awareness. Nearly 41.4% knew that COPD progresses exclusively with age, COPD is more expensive for society than lung cancer (49.0%), cigarette smoking affects COPD (34.5%), COPD is fully recoverable with short-term antibiotics (35.0%), COPD lasts more than 18 months (48.1%), COPD can worsen with smoke exposure (37.4%), lead to disability (46.7%) and quitting smoking has an important role in preventing COPD (34.0%). Conclusion: The awareness regarding the disease was low among the respondents. Only one-third correctly knew that quitting smoking has an important role in preventing COPD. This study projects an urgent need of improving awareness of COPD and its risk factors in the general population.

Clinically Amyopathic Dermatomyositis With Rapid Progressive Interstitial Lung Disease Diagnosed in a Patient on Extracorporeal Membrane Oxygenation.

Clinically amyopathic dermatomyositis (CADM) is characterized by skin manifestations with minimal to no muscle involvement. It is a unique subset of dermatomyositis, which may create a diagnostic challenge due to its vague presentation. Establishing the diagnosis is crucial as CADM is highly associated with rapidly progressive interstitial lung disease (RP-ILD), and patients who suffer from thereof have an abysmal prognosis. Herein, we described a case of a 46-year-old male who presented with a history of skin rash and then started to experience shortness of breath. His respiratory symptoms were progressing swiftly and affected his daily life activities. The initial blood tests were normal, but his chest imaging revealed fibrotic nonspecific interstitial pneumonia. The patient required intubation due to a critical respiratory condition, and later, he needed extracorporeal membrane oxygenation (ECMO). While the patient was connected to an ECMO machine, a bedside open lung biopsy (BOLB) was performed, and the results were in keeping with RP-ILD and CADM. The patient was started on cyclophosphamide without a response, and his chest computed tomography showed acute respiratory distress syndrome. His hospital course was complicated with pneumonia, severe kidney dysfunction requiring dialysis, and candidemia, which resulted in the patient's death.

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes.

Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and identify genetic variants associated with CKD and related traits in Saudi kidney disease patients. We applied a genetic testing approach using a targeted next-generation sequencing gene panel including 102 genes causative or associated with CKD. A total of 1,098 Saudi participants were recruited for the study, including 534 patients with ESRD and 564 healthy controls. The pre-validated NGS panel was utilized to screen for genetic variants, and then, statistical analysis was conducted to test for associations. The NGS panel revealed 7,225 variants in 102 sequenced genes. Cases had a significantly higher number of confirmed pathogenic variants as classified by the ClinVar database than controls (i.e., individuals with at least one allele of a confirmed pathogenic variant that is associated with CKD; 279 (0.52) vs. 258 (0.45); p-value = 0.03). A total of 13 genetic variants were found to be significantly associated with ESRD in PLCE1, CLCN5, ATP6V1B1, LAMB2, INVS, FRAS1, C5orf42, SLC12A3, COL4A6, SLC3A1, RET, WNK1, and BICC1, including four novel variants that were not previously reported in any other population. Furthermore, studies are necessary to validate these associations in a larger sample size and among individuals of different ethnic groups.

Giant Cell Tumor of Tendon Sheath in Knee Capsule.

A giant cell tumor of the tendon sheath (GCTTS) is a benign, soft tissue (synovial membrane) tumor that frequently involves the fingers. However, the localized form of the GCTTS can be rarely seen in large joints such as knees, ankles, and shoulders. GCTTS may occur due to questionable etiology that includes inflammation, trauma, or chromosomal abnormalities. This is a case of a 30-year-old female, who presented with a painful mass in her right knee. Examination revealed a palpable, tender, slightly mobile mass lateral to the patella. MRI demonstrated a cystic lesion that underwent excision. Data from the reported cases imply that local recurrence was observed in 10%-20% of patients due to incomplete primary resection. Physicians should consider the likelihood of a GCTTS when an intra-articular knee prominence is found. Early diagnosis and appropriate treatment can help with rapid clinical improvement.

Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19.

A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of 1,864 COVID-19 cases (713 with severe and 1,151 with mild disease) and 15,033 ancestry-matched population controls across 4 independent COVID-19 biobanks. We tested whether rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only 1 rare pLOF mutation across these genes among 713 cases with severe COVID-19 and observed no enrichment of pLOFs in severe cases compared to population controls or mild COVID-19 cases. We found no evidence of association of rare LOF variants in the 13 candidate genes with severe COVID-19 outcomes.

Failure to replicate the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19.

A recent report found that rare predicted loss-of-function (pLOF) variants across 13 candidate genes in TLR3- and IRF7-dependent type I IFN pathways explain up to 3.5% of severe COVID-19 cases. We performed whole-exome or whole-genome sequencing of 1,934 COVID-19 cases (713 with severe and 1,221 with mild disease) and 15,251 ancestry-matched population controls across four independent COVID-19 biobanks. We then tested if rare pLOF variants in these 13 genes were associated with severe COVID-19. We identified only one rare pLOF mutation across these genes amongst 713 cases with severe COVID-19 and observed no enrichment of pLOFs in severe cases compared to population controls or mild COVID-19 cases. We find no evidence of association of rare loss-of-function variants in the proposed 13 candidate genes with severe COVID-19 outcomes.

A Psychosocial Analysis of the Effect of Body-Contouring Surgery on Patients After Weight Loss.

Objectives (Background): Patients are often bothered by excess skin laxity and redundancy after weight loss. Body-contouring surgery offers a solution. This study assessed the psychosocial impact of body-contouring surgery on patients after weight loss. Methods (Settings, Design): In this cross-sectional study, a specifically designed questionnaire developed in collaboration with psychiatric department for our research was used for 43 patients who underwent body-contouring surgery. Data were collected during single visit to the plastic surgery clinic. All the patients had lost 20 kg or less before the surgery and were interviewed at least 6 months after the surgery. The questionnaire was used to compare the psychosocial status of the patients before and after surgery. Data were analyzed appropriately using Statistical Package for the Social Sciences. Results: The participants' mean age was 34 ± 10 years; the sample included 24 (55.8%) women and 19 (44.2%) men (total N = 43). The patients' quality of life improved significantly in the areas of social life (P < .001), job performance (P < .002), and sexual activity (P < .001). Moreover, while 17 (39.5%) patients suffered symptoms of depression before surgery, only 1 (2.3%) patient suffered symptoms of depression after surgery. The overall satisfaction was found to be 62.8%, with mammoplasty being the procedure with the highest satisfaction (66.6%). Conclusion: Body-contouring surgery after weight loss has shown to improve both psychological and social aspects of the patients' lives. Recall bias is the main limitation in our study.