Prevalence and Severity of Social Anxiety Symptoms and Their Relationship With Body Dysmorphic Symptoms.

Background Social anxiety disorder (SAD) is a subtype of anxiety characterized by avoidance, fear, and physical symptoms such as dry mouth, sweating, palpitations, and blushing. SAD is one of the most common mental disorders. Body dysmorphic disorder (BDD) is a mental disorder marked by a distressing or impairing preoccupation with imagined or minor flaws in one's physical appearance. Both disorders share similar symptoms. No satisfactory data have been provided about the prevalence of social anxiety symptoms in our region. In our study, we measured the prevalence and severity of SAD symptoms among adults in Riyadh City, as well as the sociodemographic factors associated with it. Additionally, the correlation between SAD and BDD was assessed. Methods Our study is quantitative, observational, and cross-sectional. It was conducted by administering a translated Arabic version of the Severity Measure for Social Anxiety Disorder scale and BDD scales in five locations in Riyadh, which include two general hospitals and three shopping malls. Data were analyzed using the SPSS version 22 (IBM Corp., Armonk, NY, USA). Descriptive statistical data are presented through mean values, standard deviations, and percentages. Results A total of 752 responses were received, of which 509 (68.32%) were from females with a mean age of 30.12 years. The majority of the sample had a low to middle family income, with 64% earning less than $2555 monthly. The sample possessed a good educational level; 63% had a bachelor's degree or higher. Our study also shows that 233 subjects (30.98%) had scores indicating a moderate to severe form of SAD. Among these participants, 86 (36.9%) had scores indicating a moderate to severe form of BDD. There was a significant positive correlation between SAD and BDD (r = 0.496). Conclusion The prevalence of SAD was 30.98%, which is higher compared to Western countries. Low income, education, and female gender have roles in the disease condition. Moreover, there was a linear relationship between SAD and BDD.

Pausing behavior of late bilingual and monolingual English speakers.

This study examined the differences in the pausing behavior between native and non-native English speakers. Specifically, it examined the location and duration of pauses in relation to the syntactic and lexical complexity of the clauses in which these pauses occur and the nature of the prosodic phrasing of the utterances containing pauses. Speech samples from 10 native (L1) English and 10 Mandarin non-native English speakers from the Archive of L1 and L2 Scripted and Spontaneous Transcripts and Recordings (ALLSSTAR) were included in the analysis. The results showed that lower-level prosodic boundaries and syntactically complex phrases were associated with significantly longer pause duration in the L2 speech. Additionally, phrases with less frequent words tended to induce longer pauses. These findings suggest that insufficient knowledge of the L2 syntax, lexicon, and prosody might determine the location and duration of pauses and ultimately affect the speech fluency of L2 speakers.

Clinical and molecular features of four families with CLDN10-related HELIX syndrome.

Biallelic pathogenic variants in CLDN10 cause the very rare and distinct multiplex epithelium dysfunction manifested by hypohidrosis and electrolyte imbalance (HELIX) syndrome. HELIX patients often present with heat intolerance and reduced tear secretion. Here, we report on eight new patients (four families) who presented soon after birth with fine scales in the palms and soles and hypohidrosis that was associated with high body temperature. Exome sequencing identified a novel homozygous pathogenic variant in CLDN10 in one family (NM_006984:exon1:c.138G>A:p.W46*) and a previously reported pathogenic founder variant in the other three (NM_006984:exon5:c.653del:P218Lfs*21). The detailed clinical reports of these patients and a review of previously reported patients further delineate the phenotype of this extremely rare disorder.

Clinical Reasoning: A Young Woman With Rapidly Progressive Weakness and Paresthesia.

A 24-year-old Middle Eastern woman presented with a 2-month history of rapidly progressive asymmetric weakness and paresthesia that began in her left lower extremity and progressed to involve both legs and arms. It was associated with overflow urinary incontinence and significant weight loss. In addition, she complained of a constant occipital headache that worsened in the supine position and was associated with photophobia, tinnitus, nausea, vomiting, and horizontal binocular diplopia. She also had signs of meningismus, decreased left facial sensation, and right sensorineural hearing loss. Because multifocal localization suggests a wide variety of possible differential diagnoses, this study expands on the differential of a subacute multifocal process while highlighting the importance of identifying appropriate risk factors and performing a relevant yet focused diagnostic workup.

Association between non-pharmacological therapy and healthcare use and expenditure of patients with diabetes mellitus.

This study explored the sociodemographic and clinical characteristics of patients with diabetes who incorporated two non-pharmacological therapies into their lifestyle and the association between non-pharmacological therapy and healthcare utilization and expenditure. In the USA, 26.4 million people were reportedly diagnosed with diabetes and treated with diet modification or physical activity in the 2019 Medical Expenditure Panel Survey. Physical activity was defined as moderate-to-vigorous physical exercise five times per week, whereas dietary modification involved healthy eating that reduced glucose levels. Only 4.8 million patients with diabetes did not integrate any non-pharmacological intervention into their therapy regimen. Those who did not include non-pharmacological interventions had higher annual total healthcare expenditures (M = $18,428) than those who incorporated either single (M = $17,058) or dual intervention (M = $15,134). A significant difference was observed in prescribed medicine utilization per year for those who did not include lifestyle modifications or non-pharmacological interventions. Propensity score-matched participants revealed significant differences in hospital stays, outpatient visits, and emergency department expenditures. Patients with diabetes who adhered to two non-pharmacological interventions showed significantly lower healthcare utilization. Being active and following a healthy diet can help prevent the progression of diabetes mellitus complications and reduce the cost associated with diabetes.

Metabolomics: A New Era in the Diagnosis or Prognosis of B-Cell Non-Hodgkin's Lymphoma.

A wide range of histological as well as clinical properties are exhibited by B-cell non-Hodgkin's lymphomas. These properties could make the diagnostics process complicated. The diagnosis of lymphomas at an initial stage is essential because early remedial actions taken against destructive subtypes are commonly deliberated as successful and restorative. Therefore, better protective action is needed to improve the condition of those patients who are extensively affected by cancer when diagnosed for the first time. The development of new and efficient methods for early detection of cancer has become crucial nowadays. Biomarkers are urgently needed for diagnosing B-cell non-Hodgkin's lymphoma and assessing the severity of the disease and its prognosis. New possibilities are now open for diagnosing cancer with the help of metabolomics. The study of all the metabolites synthesised in the human body is called "metabolomics." A patient's phenotype is directly linked with metabolomics, which can help in providing some clinically beneficial biomarkers and is applied in the diagnostics of B-cell non-Hodgkin's lymphoma. In cancer research, it can analyse the cancerous metabolome to identify the metabolic biomarkers. This review provides an understanding of B-cell non-Hodgkin's lymphoma metabolism and its applications in medical diagnostics. A description of the workflow based on metabolomics is also provided, along with the benefits and drawbacks of various techniques. The use of predictive metabolic biomarkers for the diagnosis and prognosis of B-cell non-Hodgkin's lymphoma is also explored. Thus, we can say that abnormalities related to metabolic processes can occur in a vast range of B-cell non-Hodgkin's lymphomas. The metabolic biomarkers could only be discovered and identified as innovative therapeutic objects if we explored and researched them. In the near future, the innovations involving metabolomics could prove fruitful for predicting outcomes and bringing out novel remedial approaches.

Relation between macrophage inflammatory protein-1 and intercellular adhesion molecule-1 and computed tomography findings in critically-ill saudi covid-19 patients.

BACKGROUND: Several, clinical and biochemical factors were suggested as risk factors for more severe forms of Covid-19. Macrophage inflammatory protein-1 alpha (MIP-1α, CCL3) is a chemokine mainly involved in cell adhesion and migration. Intracellular adhesion molecule 1 (ICAM-1) is an inducible cell adhesion molecule involved in multiple immune processes. The present study aimed to assess the relationship between baseline serum MIP-1α and ICAM-1 level in critically-ill Covid-19 patients and the severity of computed tomography (CT) findings. METHODS: The study included 100 consecutive critically-ill patients with Covid-19 infection. Diagnosis of infection was established on the basis of RT-PCR tests. Serum MIP-1α and ICAM-1 levels were assessed using commercially available ELISA kits. All patients were subjected to a high-resolution computed tomography assessment. RESULTS: According to the computed tomography severity score, patients were classified into those with moderate/severe (n=49) and mild (n = 51) pulmonary involvement. Severe involvement was associated with significantly higher MIP-1α and ICAM-1 level. Correlation analysis identified significant positive correlations between MIP-1α and age, D-dimer, IL6, in contrast, there was an inverse correlation with INF-alpha. Additionally, ICAM-1 showed significant positive correlations with age, D-Dimer,- TNF-α, IL6,while an inverse correlation with INF-alpha was observed. CONCLUSIONS: MIP-1α and ICAM-1 level are related to CT radiological severity in Covid-19 patients. Moreover, these markers are well-correlated with other inflammatory markers suggesting that they can be used as reliable prognostic markers in Covid-19 patients.

Sociodemographic characteristics and health-related quality of life of individuals undergoing antidepressant therapy.

An important factor for averting depression and creating awareness about clinical treatment is patient preference. Therefore, investigating health-related quality of life associated with different antidepressants is necessary. A retrospective cohort study was performed using the 2018 Medical Expenditure Panel Survey. The MEPS is a nationally representative database of the civilian and noninstitutionalized population spanning different ages, both sexes, and a wide range of sociodemographic and economic backgrounds. Differences in clinical and sociodemographic characteristics among patients using different antidepressant classes were explored. The differences in Veterans RAND 12-Item Health Survey (VR-12) results among groups were examined. The VR-12 metric was used since it measures a patient's overall perspective of their health. Approximately 34.6 million of the patients reported using at least one antidepressant during 2018. Most patients receiving tricyclic therapy reported substantially better mental HRQoL than patients receiving selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), or combination therapy. Patients receiving atypical antidepressants reported substantially better mental HRQoL than those receiving other types of antidepressants. Most patients reported a substantial decline in HRQoL after SNRIs or combination therapy. This study found that HRQoL varied across antidepressant users. Thus, health care providers could benefit from taking into consideration quality of life when prescribing antidepressant agents. Moreover, further research is needed to explore other factors that could contribute to the quality of care for patients with depression.

Effects of Ultra-Long-Acting Insulin Compared to Long-Acting Insulin on Diabetic Ketoacidosis Incidence in Type 1 Diabetes Mellitus Patients.

Purpose: This research was intended to explore the effects of new-generation basal insulin (degludec U100 And glargine U300) versus long-acting basal insulin (glargine U100, detemir) on the incidence of diabetic ketoacidosis episodes and diabetes treatment measures. Patients and methods: This is a cross-sectional, retrospective medical record analysis. The study population included adults with type 1 diabetes mellitus (DM) who were on the hospital records in 2020. Data were collected from 221 eligible participants through review of electronic medical records. Each record was scanned for basal insulin type, total daily insulin dose, diabetic ketoacidosis (DKA) occurrences, and glycated hemoglobin A1C (HbA1c) levels. Data were collected from 6 months before to 6 months after the initiation of ultra-long-acting insulin. Statistical analysis was conducted using R version 3.5.2. The normality of distribution for each independent variable was verified using Shapiro-Wilk tests. The independent paired t-test was used to compare insulin therapy measures between the two insulin regimens. The main outcome measures were the incidence of DKA episodes and clinical outcomes associated with diabetes. Results: The HbA1c did not change significantly before and after ultra-long-acting insulin therapy was initiated (9.9 vs 9.8, respectively; P >0.05). Insulin total daily doses were significantly higher after shifting to ultra-long-acting insulin. Sub-analysis showed higher total daily insulin doses in glargine U300 users compared with degludec U100 users (P =0.0021). However, basal insulin doses did not change after treatment with ultra-long-acting insulin. No statistically significant difference in DKA occurrences was found before and after the start of ultra-long-acting insulin treatment. Conclusion: The frequency of DKA episodes was not affected by changing the treatment to ultra-long-acting insulin. Moreover, the results suggest that insulin dosage and types are not the only cause of uncontrolled diabetes. Additional efforts should be made to cover all factors affecting diabetes complication control.

Implementing an Antimicrobial Stewardship Programme to Improve Adherence to a Perioperative Prophylaxis Guideline.

Perioperative antimicrobial prophylaxis is effective in reducing the rate of surgical site infections (SSIs); however, non-adherence to surgical antimicrobial prophylaxis protocols can lead to several negative outcomes. We performed a before-and-after intervention study with the aim of improving the process outcome, including adherence to guidelines. Another objective of this study was to investigate improvement in patient outcomes as a result of adherence to a surgical antimicrobial prophylaxis programme. The indicators of improved patient outcomes were a reduction in overall SSI rate and the decreased cost of antibiotics. SSI rate was calculated as a percentage by dividing the number of SSIs by the total number of surgeries and then multiplying the value obtained by 100%. The interventions implemented in the surgical antimicrobial prophylaxis programme included establishment of a guideline, educational sessions, and a monthly revision of prescriptions. Our findings show that implementation of the interventions resulted in reduced antibiotic consumption, a considerable decrease in the cost of prophylaxis, and a decrease in the incidence of SSIs.

Assessment of Using the Syndromic Approach in Managing Patients With Sexually Transmitted Diseases Among the National Guard Primary Health Care Physicians, Jeddah City, Saudi Arabia.

Background Sexually transmitted infections (STIs) include a group of clinical syndromes that can be transmitted mainly through sexual activity. Using STIs' syndromic approach for diagnosis and management is widely recommended to control and reduce the burden of these transmissible diseases. Objective The objective of this article is to assess the knowledge and practice of physicians concerning syndromic management of STIs in National Guard Primary Health Care (PHC) centers in Jeddah city, Saudi Arabia. Materials and methods This observational study was conducted at the National Guard PHC centers in Jeddah City, Saudi Arabia. An interview-administered questionnaire was designed. Fifty physicians have met the inclusion criteria, and all of them were included in the present study. Results Of the study population, 47 PHC physicians (response rate was 94%) were interviewed and the questionnaire was completed. Overall, the physicians' knowledge was different from one syndrome to another; it was highest for urethral discharge (72%) and lowest for vaginal discharge in pregnant women (21%). During the last 10 days, the physicians in the present study reported that two-thirds of their cases of STI were urethral discharge cases. However, during the previous 10 days, the practice assessment revealed that most physicians (76%) were correctly prescribed the medications as indicated by specific patients' syndromes. Conclusion Syndromic management is essential guidance to control and reduce the burden of STIs. Overall knowledge and practice of physicians were different from one syndrome to another. There is a need to design continuing medical education programs targeting PHC physicians to be clinically and culturally competent against socially sensitive diseases like STIs.

Metabolic Biomarkers in B-Cell Lymphomas for Early Diagnosis and Prediction, as Well as Their Influence on Prognosis and Treatment.

B-cell lymphomas exhibit a vast variety of clinical and histological characteristics that might complicate the diagnosis. Timely diagnosis is crucial, as treatments for aggressive subtypes are considered successful and frequently curative, whereas indolent B-cell lymphomas are incurable and often need several therapies. The purpose of this review is to explore the current advancements achieved in B-cell lymphomas metabolism and how these indicators help to early detect metabolic changes in B-cell lymphomas and the use of predictive biological markers in refractory or relapsed disease. Since the year 1920, the Warburg effect has been known as an integral part of metabolic reprogramming. Compared to normal cells, cancerous cells require more glucose. These cancer cells undergo aerobic glycolysis instead of oxidative phosphorylation to metabolize glucose and form lactate as an end product. With the help of these metabolic alterations, a novel biomass is generated by the formation of various precursors. An aggressive metabolic phenotype is an aerobic glycolysis that has the advantage of producing high-rate ATP and preparing the biomass for the amino acid, as well as fatty acid, synthesis needed for a rapid proliferation of cells, while aerobic glycolysis is commonly thought to be the dominant metabolism in cancer cells. Later on, many metabolic biomarkers, such as increased levels of lactate dehydrogenase (LDH), plasma lactate, and deficiency of thiamine in B-cell lymphoma patients, were discovered. Various kinds of molecules can be used as biomarkers, such as genes, proteins, or hormones, because they all refer to body health. Here, we focus only on significant metabolic biomarkers in B-cell lymphomas. In conclusion, many metabolic biomarkers have been shown to have clinical validity, but many others have not been subjected to extensive testing to demonstrate their clinical usefulness in B-cell lymphoma. Furthermore, they play an essential role in the discovery of new therapeutic targets.

Barriers in utilizing lipid-lowering agents in non-institutionalized population in the U.S.: Application of a theoretical framework.

Cardiovascular diseases are a major cause of death globally. Epidemiological evidence has linked elevated levels of blood cholesterol with the risk of coronary heart disease. However, lipid-lowering agents, despite their importance for primary prevention, are significantly underused in the United States. The objective of this study was to explore associations among socioeconomic factors and the use of antihyperlipidemic agents in 2018 in U.S. patients with hyperlipidemia by applying a theoretical framework. Data from the 2018 Medical Expenditure Panel Survey were used to identify the population of non-institutionalized U.S. civilians diagnosed with hyperlipidemia. This cross sectional study applied the Andersen Behavioral Model to identify patients' predisposing, enabling, and need factors. Approximately 43 million non-institutionalized adults were diagnosed with hyperlipidemia. With the exception of gender and race, predisposing factors indicated significant differences between patients who used antihyperlipidemic agents and those who did not. The relation between income level and use of antihyperlipidemic agents was significant: X2 (4, N = 3,781) = 7.09, p <.001. Hispanic patients were found to be less likely to receive treatment (OR: 0.62; 95% CI: 0.43-0.88), as observed using a logistic model, with controls for predisposing, enabling, and need factors. Patients without health insurance were less likely to use lipid-lowering agents (OR: 0.33; 95% CI: 0.14-0.77). The present study offers essential data for prioritizing interventions by health policy makers by identifying barriers in utilizing hyperlipidemia therapy. Non-adherence to treatment may lead to severe consequences and increase the frequency of fatal cardiac events in the near future.

GABA transaminase deficiency. Case report and literature review.

GABA transaminase deficiency should be considered in the differential diagnosis of early onset epileptic encephalopathies. This case was diagnosed post-mortem, but increased vigilance to this will allow for earlier diagnoses in other infants and families. This is a case study which involved diagnosis of a rare neurometabolic disorder in one of the babies in the family and eventual genetic counselling of the family. The family has been offered pre-implantation genetic diagnosis for future pregnancies. This case reporting has been approved by the hospital research and ethical committee.

Validation and performance comparison of two SARS-CoV-2 IgG/IgM rapid tests.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes a disease called COVID-19. COVID-19 is primarily diagnosed using molecular techniques mainly real-time reverse transcriptase PCR. Reliable and accurate serologic assays for COVID-19, are an important tool for surveillance and epidemiologic studies. In this study, the IgG/IgM Rapid Test Cassette and the Prima COVID-19 IgG/IgM Rapid Test for the detection of SARS-CoV-2 antibodies in blood, serum and plasma samples collected from patients up to 48 days after symptom onset in Saudi Arabia were validated. Overall, both tests showed poor performance and cannot be utilised for COVID-19 diagnosis as a point of care test or to determine seroprevalence.

Further delineation of HIDEA syndrome.

Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes. We report seven patients from four new families in whom HIDEA was only diagnosed after whole-exome sequencing (WES) revealed novel disease-causing variants in P4HTM. We note the variable phenotypic expressivity of the syndrome except for cognitive impairment/developmental delay, and hypotonia, which seem to be consistent findings. One patient only presented with hypotonia, developmental delay, and abnormal eye movements, which highlights the challenge in diagnosing milder cases with this new syndrome. Other notable features include mild facial dysmorphism, obesity, and brain dysmyelination and atrophy. We conclude that HIDEA is a highly variable syndrome and suspect that a large fraction of patients will be diagnosed via reverse phenotyping after recessive P4HTM variants are identified by agnostic genomic sequencing assays.

A comparison between warfarin and apixaban: A patient's perspective.

BACKGROUND: Novel oral anticoagulants (NOACs) were developed as alternatives to warfarin. However, the patients' preference regarding warfarin or the NOACs has not been established. Quality-of-life (QOL) surveys are a well-established method for determining the patients' preference for a treatment route. AIMS: This study compared the patients' perspectives on treatment with warfarin versus apixaban using the QOL measures. SETTINGS AND DESIGN: This cross-sectional study was conducted in 2019 for patients treated with either warfarin or apixaban at King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia. METHODS: We used a series of descriptive statistics to examine the differences in sociodemographic characteristics among patients. A propensity score-matching approach was employed to reduce the effect of confounding variables that often influence treatment selection. Greedy matching approach was used to analyze the QOL. RESULTS: A total of 388 patients were identified, of which 124 were matched between the two groups (62 patients in each group). Most of the patients were female, married, below the sufficiency level, educated, and nonsmokers. The patients using warfarin had a significantly better health state (M = 69.64, standard deviation [SD] = 16.52) than those using apixaban (M = 66.33, SD = 23.17), P = 0.011. CONCLUSIONS: Future studies should explore why patients using apixaban showed lower QOL scores and improve health-care providers' awareness of these issues.

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the underlying mechanism of inactivation of the MFSD2A transporter. We carried out detailed analysis of the clinical and neuroradiological features of a series of 27 MCPH15 cases, including eight new individuals from seven unrelated families. Genetic investigation was performed through exome sequencing (ES). Structural insights on the human Mfsd2a model and in-vitro biochemical assays were used to investigate the functional impact of the identified variants. All patients had primary microcephaly and severe developmental delay. Brain MRI showed variable degrees of white matter reduction, ventricular enlargement, callosal hypodysgenesis, and pontine and vermian hypoplasia. ES led to the identification of six novel biallelic MFSD2A variants (NG_053084.1, NM_032793.5: c.556+1G>A, c.748G>T; p.(Val250Phe), c.750_753del; p.(Cys251SerfsTer3), c.977G>A; p.(Arg326His), c.1386_1435del; p.(Gln462HisfsTer17), and c.1478C>T; p.(Pro493Leu)) and two recurrent variants (NM_032793.5: c.593C>T; p.(Thr198Met) and c.476C>T; p.(Thr159Met)). All these variants and the previously reported NM_032793.5: c.490C>A; p.(Pro164Thr) resulted in either reduced MFSD2A expression and/or transport activity. Our study further delineates the phenotypic spectrum of MCPH15, refining its clinical and neuroradiological characterization and supporting that MFSD2A deficiency causes early prenatal brain developmental disruption. We also show that poor MFSD2A expression despite normal transporter activity is a relevant pathomechanism in MCPH15.

The morbid genome of ciliopathies: an update.

PURPOSE: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly. METHODS: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes. RESULTS: In this study, we describe 125 families with ciliopathies and show that deleterious variants in previously reported genes, including cryptic splicing variants, account for 87% of cases. Additionally, we further support a number of previously reported candidate genes (BBIP1, MAPKBP1, PDE6D, and WDPCP), and propose nine novel candidate genes (CCDC67, CCDC96, CCDC172, CEP295, FAM166B, LRRC34, TMEM17, TTC6, and TTC23), three of which (LRRC34, TTC6, and TTC23) are supported by functional assays that we performed on available patient-derived fibroblasts. From a phenotypic perspective, we expand the phenomenon of allelism that characterizes ciliopathies by describing novel associations including WDR19-related Stargardt disease and SCLT1- and CEP164-related Bardet-Biedl syndrome. CONCLUSION: In this cohort of phenotypically and molecularly characterized ciliopathies, we draw important lessons that inform the clinical management and the diagnostics of this class of disorders as well as their basic biology.