Severe Clinical Features Research Articles

Prevalence and Correlates of Obsessive-Compulsive Symptoms in Individuals With Schizophrenia, Schizoaffective Disorder, or Bipolar Disorder.

Objective: Although frequently reported in psychosis, obsessive-compulsive symptoms (OCS) are often not recognized and thus undertreated. We aimed to estimate the prevalence of OCS and obsessive-compulsive disorder (OCD) in patients with schizophrenia, schizoaffective disorder, or bipolar disorder in clinical records and identify clinical associations of OCS co-occurrence.Methods: Data were retrieved from the South London and Maudsley NHS Foundation Trust Biomedical Research Centre case register. The study population was restricted to individuals diagnosed with schizophrenia (ICD F20.x), schizoaffective disorder (ICD F25.x), or bipolar disorder (ICD F31.x) between 2007 and 2015. OCS and OCD were ascertained from structural fields and via Natural Language Processing software applied to free-text records. Clinical characteristics were obtained from Health of the Nation Outcome Scales for the analyses on associations between clinical characteristics and OCS/OCD status using logistic regressions with confounders considered.Results: 22,551 cases of schizophrenia, schizoaffective disorder, or bipolar disorder were identified in the observation window. Among these, 5,179 (24.0%) were identified as having OCS (including an OCD diagnosis) and 2,574 (11.9%) specifically with comorbid OCD. OCS/OCD was associated with an increased likelihood of recorded aggressive behavior (OR = 1.18; 95% CI, 1.10-1.26), cognitive problems (OR = 1.21; 95% CI, 1.13-1.30), hallucinations and delusions (OR = 1.11; 95% CI, 1.04-1.20), and physical problems (OR = 1.17; 95% CI, 1.09-1.26).Conclusions: OCS and OCD are frequently recorded for patients with schizophrenia, schizoaffective disorder, and bipolar disorder and are associated with more severe psychiatric clinical characteristics. Automated information extraction tools hold potential to improve recognition and treatment of co-occurring OCS/OCD for psychosis.

Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation.

Congenital pseudarthrosis of the tibia (CPT) is a rare congenital bone malformation, which has a strong relationship with Neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant disease leading to multisystem disorders. Here, we presented the genotypic and phenotypic characteristics of one unique case of a five-generation Chinese family. The proband was CPT accompanied with NF1 due to NF1 mutation. The proband developed severe early-onset CPT combined with NF1 after birth. Appearance photos and X-ray images of the left limb of the proband showed significant bone malformation. Slit-lamp examination showed Lisch nodules in both eyes of the proband. Whole-exome sequencing (WES) and Sanger sequencing confirmed the truncation variant of NF1 (c.871G>T, p. E291*). Sequence conservative and evolutionary conservation analysis indicated that the novel mutation (p.E291*) was highly conserved. The truncated mutation led to the loss of functional domains, including CSRD, GRD, TBD, SEC14-PH, CTD, and NLS. It may explain why the mutation led to a severe clinical feature. Our report expands the genotypic spectrum of NF1 mutations and the phenotypic spectrum of CPT combined with NF1.

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2

BackgroundAs a rare mitochondrial disease, combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by biallelic variants in the phenylalanyl-tRNA synthetase 2, mitochondrial gene (FARS2) with clinical features of developmental delay, an elevated lactate level, early-onset encephalopathy, liver failure, and hypotonia. The objectives of this study were to analyze the clinical and molecular features of two Chinese siblings affected with COXPD14, and to review relevant literature.MethodsMutation screening was performed by whole exome sequencing (WES) in combination with Sanger sequencing validation to identify the disease-causing variants of the two patients.ResultsThe two siblings presented with severe clinical features and both progressed aggressively and failed to survive after treatment abandonment. We identified two compound heterozygous FARS2 variants c.925G>A p.Gly309Ser and c.943G>C p.Gly315Arg in this proband, which were inherited from the unaffected father and mother, respectively. In addition, Sanger sequencing confirmed that the elder affected sister carried the same compound heterozygous variants. The c.925G>A p.Gly309Ser variant is known and commonly reported in COXPD14 patients, while c.943G>C p.Gly315Arg is a novel one. Neither of the variants was found in 100 Chinese healthy controls. Both variants were classified as “deleterious” and were located in the highly conserved regions of the protein. The above results suggested that the two variants were likely causative in this COXPD14-affected pedigree.ConclusionsOur study expands the mutation spectrum of FARS2 and highlights the importance of genetic testing in the diagnosis of diseases with a wide variety of phenotypes, especially in the differential diagnosis of diseases.

Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the pathogenic founder variant c.397C>T, (p.Arg133Cys), but the spectrum of other NOTCH3 variants has not been investigated previously. The aim of the study was to investigate the spectrum and prevalence of NOTCH3 variants Finnish CADASIL patients and to examine the clinical features associated with them. The spectrum of NOTCH3 variants and the clinical features associated with them were retrospectively examined in 294 Finnish CADASIL patients tested during January 1996 to October 2021 in the Medical Genetics laboratory of Department of Genomics of Turku University Hospital, where practically all samples of patients with suspected CADASIL in Finland are investigated. The most common NOTCH3 variants in the study cohort were c.397C>T, (p.Arg133Cys) (68%) and c.3206A>G p.(Tyr1069Cys) (18%), but other less common NOTCH3 variants were detected in as many as 14% of the patients. Eight of the detected NOTCH3 variants were novel: c.520T>A,p.(Cys174Ser), c.836A>G,p.(Gln279Arg), c.1369T>G,p.(Cys457Gly), c.1338C>G,p.(Cys446Trp), c.1564T>G,p.(Cys522Gly), c.2848T>G,p.(Cys950Gly), c.6102dup,p.(Gly2035Argfs*60), and c.2410+6C>G. Other NOTCH3 variants than p.Arg133Cys and p.Tyr1069Cys were more often associated with more severe clinical features. This study revealed the genetic and clinical spectrum of CADASIL in the Finnish population. Sequencing of the whole NOTCH3 gene performing a gene-panel or exome sequencing is recommended when suspecting CADASIL.

Hypothermia: Diagnosis and Treatment

Hypothermia is defined as a so-called central vital sign below 35°C (95°F). Impaired thermoregulation may contribute to accidental hypothermia. Hypothermia is evaluated as mild, moderate, or severe central blood warmth and clinical features ranging from shivering to progressive bradycardia, coma, and circulatory collapse. During the diagnostic evaluation, the patient's core temperature should first be determined, followed by an ECG. Additional tests evaluate comorbidities and complications. Treatment consists of rewarming and supportive care. Cardiac arrhythmias are the main common explanation for death from hypothermia.

Epidemiology and clinical characteristics of patients after recovery from COVID-19 infection in Erbil government, Iraq

Background and objective: Preliminary reports indicate some patients may develop a post-COVID-19 syndrome, in which they experience persistent symptoms after recovering from their initial illness. So, we investigated the persistent symptoms of patients after recovery from COVID-19 that attended a private clinic in Erbil city searching for care. Therefore, this study aimed to describe the demographic features of the patients, identify the clinical features of the patients after recovery and find associations between clinical and demographic features. Methods: This is a case series of a private clinic study, which was done in Erbil city. We reviewed patients who had been diagnosed with COVID-19 and were referred to the clinic from July 31st to December 1st, 2020, in Erbil, Iraq. Results: In this study, 154 post-recovered COVID-19 patients who attended the center during the six months of the study were enrolled. The mean age of the patients significantly increased with increased severity (P <0.001). A significant statistical association was also found between marital and smoking status with the severity of post-COVID-19 in which married patients developed more severe cases than non-married patients (P = 0.03). Also, cigarette smokers developed less severe clinical features than non-smokers (P = 0.005). The most frequent comorbidity among patients was hypertension (23%), while the least comorbidity was stroke, hyperthyroidism, renal failure, migraine, and osteoarthritis (0.7%). Conclusion: Significant statistical associations were found between the severity of the post-COVID-19 condition with many variables, including the mean age of the patients, marital status, and smoking status. The most frequent comorbidity was hypertension, and the least frequent was stroke. Keywords: Post-COVID-19 syndrome; Case series study; Comorbidity; Erbil city.

Predictive prognostic value of glomerular C3 deposition in IgA nephropathy.

IgAN is the most common primary glomerulonephritis worldwide. However, the pathogenesis of IgAN remains unknown. Currently, there is evidence that C3 deposition plays a role in disease development. This study aimed to investigate clinical, pathological features, and prognosis of adult IgAN patients with C3 deposition, as well as explore the role of complement activation in disease progression. A total of 821 patients with biopsy-proven IgAN were included in this study. Patients were divided into three different groups according to their C3 deposition intensity. Clinical and pathological characteristics were compared between groups. Logistic analysis was used to estimate the relationship between C3 deposition and the Oxford scoring system. Univariate and multivariate Cox proportional hazard regression models were used to analyze the effect of the presence ofC3 deposits on the prognosis of patients with IgA nephropathy. Kaplan-Meier survival analysis was used to evaluate the cumulative incidence of renal progression between groups. Patients with C3 deposition exhibited more severe clinical and pathological features and had a higher score according to the Oxford scoring system. With the increasing intensity of C3 deposition, patients present more hematuria, crescents, heavier interstitial inflammatory cell infiltration and a higher score on segmental sclerosis lesions. Logistic regression identified a positive relationship between C3 deposition and histopathology. Univariate and multivariate Cox regression indicated thatC3 deposition was an independent risk factor for IgANseverity. The Kaplan-Meier survival curves indicated that patients with positive C3 deposition had a worse prognosis compared to those without C3 deposition. Patients with positive glomerular C3 deposition presented with more severe clinical and histopathological characteristics and a higher score on the Oxford scoring system. With the increasing intensity of C3 deposition, IgAN patients were more likely to present with high level ofmicroscopic hematuria, fibrous crescents, interstitial inflammatory cell infiltration, and a higher score on segmental sclerosis lesions. C3 deposition at the time of renal biopsy is likely an independent risk factor for IgA nephropathyseverity and progression.

The severity of clinical symptoms and paranasal sinuses CT-scan finding in COVID-19 patients in Kirkuk Province

Introduction: COVID-19, first detected in Wuhan, China in December 2019, fast spread across the globe, causing a pandemic affecting many countries around the world. Objectives: The aim of this study was to assess the severity of clinical features and paranasal sinuses computed tomography (CT)-scan findings in COVID-19 patients and find the relationship between smoking and severity of COVID-19 symptoms. Materials and Methods: A cross-sectional study was achieved on a cohort of 399 patients, who clinically suffer from COVID-19 symptoms. The collected data for those patients included COVID-19 polymerase chain reaction (PCR) tests, presence of the IgG and IgM antigens, and paranasal sinuses CT-scan images. Results: This was a cross-sectional study of 399 patients infected with COVID-19. The mean age of the patients was 39 ± 11 years. Approximately 53.6% of them were males, whereas 46.4% were females. 55.6% of them performed CT scan for sinuses. 28.6% of the patients were with severe clinical features. 51.1% of them were smoking. 77.4% of them were of positive PCR, 57.9% positive IgG, and 86.7% positive IgM. 27.8% of patients were of the age group of 40–49 years. There was a significant association between the severity of COVID infection and age group. There was a significant association between the severity of COVID infection and sinus CT-scan findings. There was a significant association between the severity of COVID infection and positive PCR. There was a significant association between the severity of COVID infection and positive IgM. There was a significant association between smoking and sinus CT-scan findings. Conclusion: At the time of COVID infection, the severity of infection ranged from mild to moderate. More severe infection with COVID-19 associated with significant finding in sinus CT scan in patients at age group 50–59 years, and sinus also more severe COVID infection associate with positive CT scan finding that occur more in smocking patients.

Clinicopathological characteristics and risk factors in elderly patients with biopsy-proven IgA nephropathy

Background Immunoglobulin A nephropathy (IgAN) has been well studied among young people, but few data on clinicopathological characteristics, treatment response and outcomes for elderly IgAN patients are available. Methods A cohort study of elderly IgAN patients was performed. The combined endpoints of renal outcome were a 50% decline in eGFR compared with the time of renal biopsy, end-stage kidney disease and/or death. Risk factors associated with poor renal outcomes were then determined. The benefits of immunosuppressant therapies were also evaluated by Kaplan-Meier survival curve analysis. Results This study ultimately included 126 elderly patients with IgAN. Comparison between the endpoint and non-endpoint groups indicated that patients with poor outcomes had more severe clinical features, such as worse kidney function, severe hematuria and lower albumin levels. Cox regression analysis indicated that age (HR 1.15, 95% CI 1.02–1.29, p = 0.021), male gender (HR 9.71, 95% CI 1.00–97.56, p = 0.050), and urine red blood cells (HR 1.003, 95% CI 1.000–1.006, p = 0.029) were independent risk factors for poor renal outcome in elderly IgAN patients. To explore possible reasons accounting for the predictive value of age and sex, patients were divided into two groups based on these two variables. Patients in the geriatric group had lower serum albumin, estimated glomerular filtration rate, hemoglobin and aspartate aminotransferase levels than those in the quinquagenarian group. Male patients tended to have higher hemoglobin, higher alanine aminotransferase, and lower triglycerides and cholesterol levels than female patients. To investigate different treatment responses, patients were classified into two groups depending on treatment strategies (renin-angiotensin system inhibitors and immunosuppressive therapy), and the survival analysis indicated no significant difference in kidney outcome between the two groups (p > 0.05). This result still holds after adjusting for age, sex, eGFR, hematuria, and proteinuria. Conclusion Advanced age, male, and hematuria might be independently associated with poor kidney outcomes in elderly patients with IgAN. Immunosuppressive therapy might confer no overall benefit to older IgAN patients.

Exposure to parasitic infections determines features and phenotypes of active convulsive epilepsy in Africa

Background: Epilepsy affects 70 million people worldwide, 80% of whom are in low-and-middle income countries (LMICs). Parasitic infections contribute considerably to the burden of epilepsy in LMICs, but the nature and presentation of epilepsy following these infections is not fully understood. We examined if epilepsy outcomes are associated with the exposure to parasitic infections. Methods: This was a case-comparison study nested in a cross-sectional survey of people with active convulsive epilepsy, with cases as those exposed to parasitic infections, and comparison as those unexposed. Associations of exposure to parasites with clinical and electroencephalographic features of epilepsy were done using a modified mixed effects Poisson regression model across five sites in Africa. Multiplicative and additive scale (RERI) interactions were explored to determine the effect of co-infections on epilepsy features. Population attributable fractions (PAF) were calculated to determine the proportion of severe clinical and electroencephalographic features of epilepsy attributable to parasitic infections. Results: A total of 997 participants with active convulsive epilepsy from the five African sites were analyzed, 51% of whom were males. Exposure to parasitic infections was associated with more frequent seizures in adult epilepsy (relative risk (RR)=2.58, 95% confidence interval (95%CI):1.71-3.89). In children, exposure to any parasite was associated with convulsive status epilepticus (RR=4.68, (95%CI: 3.79-5.78), intellectual disabilities (RR=2.13, 95%CI: 1.35-3.34) and neurological deficits (RR=1.92, 95%CI: 1.42-2.61). Toxoplasma gondii and Onchocerca volvulus interacted synergistically to increase the risk of status epilepticus (RERI=0.91, 95%CI=0.48-1.35) in the data pooled across the sites. Exposure to parasitic infections contributed to 30% of severe features of epilepsy as shown by PAF. Conclusions: Parasitic infections may determine features and phenotypes of epilepsy through synergistic or antagonistic interactions, which can be different in children and adults. Interventions to control or manage infections may reduce complications and improve prognosis in people with epilepsy.

Suicide risk profiles and barriers to professional help-seeking among college students with elevated risk for suicide

Suicide is the second leading cause of death among college students, yet many students with elevated suicide risk do not seek professional help. This study identified suicide risk profiles among college students and examined these in relation to students’ perceived barriers to professional help-seeking. Data were obtained from college students (n = 1689) identified to be at elevated risk for suicide based at four US universities. Latent class analysis was performed to determine risk profiles, followed by examinations of differences in help-seeking barriers by profile groupings. Results revealed three student groupings: (1) moderate internalizing and externalizing symptoms (with low alcohol misuse), (2) highest internalizing and externalizing symptoms (with highest social disconnection), and (3) lowest internalizing symptoms and low externalizing (with highest social connection and alcohol misuse). Group 1 included the youngest and most racially and sexually diverse students, Group 2 endorsed the most help-seeking barriers, and Group 3 endorsed the fewest barriers. Group 2 is especially concerning, considering the severe clinical characteristics, high number of barriers, and low connectedness to others for potential support. Understanding these differences across risk and barrier profiles is an important step towards developing tailored approaches to increase mental health care in college populations.

Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia.

Preeclampsia is a hypertensive disorder of pregnancy, which complicates up to 15% of US deliveries. It is an idiopathic disorder associated with several different phenotypes. We sought to determine if the genetic architecture of preeclampsia can be described by clusters of patients with variants in genes in shared protein interaction networks. We performed a case-control study using whole exome sequencing on early onset preeclamptic mothers with severe clinical features and control mothers with uncomplicated pregnancies between 2016 and 2020. A total of 143 patients were enrolled, 61 women with early onset preeclampsia with severe features based on ACOG criteria, and 82 control women at term, matched for race and ethnicity. A network analysis and visualization tool, Proteinarium, was used to confirm there are clusters of patients with shared gene networks associated with severe preeclampsia. The majority of the sequenced patients appear in two significant clusters. We identified one case dominant and one control dominant cluster. Thirteen genes were unique to the case dominated cluster. Among these genes, LAMB2, PTK2, RAC1, QSOX1, FN1, and VCAM1 have known associations with the pathogenic mechanisms of preeclampsia. Using bioinformatic analysis, we were able to identify subsets of patients with shared protein interaction networks, thus confirming our hypothesis about the genetic architecture of preeclampsia.

The prognostic value of the advanced lung cancer inflammation index (ALI) for patients with neuroblastoma.

ObjectiveThe advanced lung cancer inflammation index (ALI) can predict the survival of patients with lung cancer and other malignancies. However, the prognostic significance of ALI in neuroblastoma has not been reported. This study aimed to evaluate the correlation between ALI and neuroblastoma patient prognosis.MethodsWe retrospectively analyzed the data of 72 neuroblastoma patients treated between January 2014 and August 2020. ALI calculation: Body mass index (BMI) × serum albumin (ALB)/neutrophil-to-lymphocyte ratio (NLR). The optimal cutoff points of prognostic biomarkers were determined by generating receiver operating characteristic (ROC) curves. According to the cutoff value, the patients were categorized into low or high ALI groups. The chi-square test was used to compare clinical parameters between the two groups. Potential prognostic factors associated with overall survival (OS) were assessed using Kaplan–Meier and Cox regression analyses.ResultsThe optimal cutoff value of ALI was 49.17. The low ALI group showed more severe clinical characteristics and poorer survival rates. Univariate and multivariate Cox analyses suggested that ALI and the International Neuroblastoma Staging System (INSS) stage were independent prognostic factors for neuroblastoma patients.ConclusionsLow ALI is associated with poor prognosis in neuroblastoma patients. ALI may be an independent prognostic biomarker for neuroblastoma.

Clinical significance and immunogenomic landscape analysis of glycolysis-associated prognostic model to guide clinical therapy in hepatocellular carcinoma.

Hepatocellular carcinoma (HCC) is a common malignant tumor with a poor prognosis and high mortality rate worldwide. Glucose metabolism disorder is one of the most important characteristics of HCC. However, as the primary risk factors for the prognosis of HCC patients are unclear, the survival prognosis and therapy response of patients cannot be accurately predicted. First, gene sets of 29 cancer hallmarks were collected from public databases. The z-score of various cancer hallmarks were quantitively analyzed by a single-sample gene set enrichment analysis (ssGSEA) of HCC patients. Next, a glycolysis-related gene signature (GRS) was constructed using a series of bioinformatics methods, which were used to predict the survival prognosis of HCC patients and the immunotherapy benefits. The prediction accuracy of the GRS was validated in different HCC cohorts and clinical subgroups. Additionally, a decision tree and nomogram were also established based on the GRS and other clinical variables. Finally, the genomic alterations and tumor immune microenvironment of the HCC patients were examined. Among the 29 cancer hallmarks, glycolysis was the most predominant risk factor for a poor prognosis in HCC. We subsequently constructed a novel GRS comprising 12 glycolysis-related genes. The high-GRS patients had a poorer survival prognosis than the low-GRS patients. The GRS exhibited a powerful ability to predict survival prognosis in different HCC cohorts and clinical feature subgroups. Additionally, the decision tree and nomogram aided in the risk stratification and prognosis evaluations of HCC patients. Further, we found that a high GRS was characterized by a severe tumor stage, pathological grade, and other clinical features. There were significant differences in the genomic alterations, immune cells, and immune checkpoints between the low- and high-GRS patients, especially in relation to the tumor protein p53 mutation and immunosuppressive cells. Notably, we also found that the GRS could be used to identify HCC patients who are more sensitive to chemotherapy and immunotherapy. In summary, the GRS may be a useful tool for predicting the prognosis and guiding the clinical therapy of HCC patients.

28-Year-Old Man With Joint Pain

28-Year-Old Man With Joint Pain

The prevalence of nonalcoholic fatty liver disease in Chinese adults screened by vibration controlled transient elastography and its diagnostic discrepancy compared with ultrasound

BackgroundThe prevalence of non-alcoholic fatty liver disease (NAFLD) in China as assessed using vibration-controlled transient elastography (VCTE) and its consistency with ultrasound is still unknown. We aimed to conduct a head-to-head comparison of consecutive measurements of NAFLD with ultrasound or VCTE to evaluate the discrepancy in the prevalence and distribution of NAFLD screened by two non-invasive techniques. MethodsWe collected VCTE and ultrasound examination data from 4,388 participants who underwent health check-ups at the Health Promotion Center of Jiangsu Province Hospital between January 2017 and December 2019. The major outcome was the presence of hepatic steatosis, which was defined as a median controlled attenuation parameter (CAP) ≥ 248 dB/m by VCTE or the definition of steatosis by ultrasound. ResultsAmong the 4,388 participants, 2,214 were diagnosed with NAFLD by VCTE (CAP ≥ 248 dB/m, 50.46%). Participants with severe steatosis (CAP ≥ 280 dB/m) were commonly male (77.94% vs. 50.38%, P < 0.001), were obese (45.09% vs. 1.79%, P < 0.001), had a worse metabolic profile, had elevated liver enzyme levels, and had advanced fibrosis. The prevalence of ultrasound-diagnosed NAFLD was 56.42%. After consistency analysis, VCTE and ultrasound showed moderate agreement regarding the diagnosis of NAFLD (κ = 0.475). We then compared the characteristics and clinical features of the four groups classified by the diagnosis results of the two techniques. NAFLD participants diagnosed by VCTE only were older, more obese, and had worse metabolic and biochemical profiles than NAFLD participants diagnosed by ultrasound only; in particular, the former had a higher proportion of abnormal alanine aminotransferase and aspartate aminotransferase levels and a higher proportion of advanced fibrosis than the latter. ConclusionsMore than half of Chinese adults were affected by NAFLD according to VCTE. Screening based on VCTE is more likely to identify NAFLD patients with severe clinical features than ultrasound. Therefore, VCTE is a more practical non-invasive tool for the screening and follow-up of NAFLD in China.

Clinical Course of Children with Campylobacter Gastroenteritis With and Without Co-Infection in Lima, Peru.

This study describes the clinical course of gastroenteritis caused by Campylobacter spp. as a single-infection versus coinfection and the corresponding changes that occur according to the treatment received, in children between 12 and 24 months of age. This descriptive study is based on the data of a pediatric cohort conducted between 2008 and 2011 of 555 children in Lima, Peru. Ninety-six diarrheal episodes with positive cultures for Campylobacter spp. were evaluated. In 52 episodes, empirical antibiotic treatment was started before pathogen isolation. Of these 96 episodes, 64.6% were coinfections with other pathogens. Coinfections were led by Escherichia coli, norovirus, and Giardia. Compared with single-infection episodes, coinfections had a mean symptom duration of 6.6 versus 5.7 days, a mean frequency of bowel movements per episode of 18.9 versus 14.8, and occurrence of vomiting and fever in 24.2% versus 14.7% of patients. Most of the patients with more severe clinical features at diagnosis were prescribed macrolides as empiric treatment. In the single-infection group, symptom duration was 7.2 ± 3.3 days in the macrolide-treated group and 7.9 ± 2.7 days in the nonmacrolide group. Diarrhea caused by coinfection appeared to be generally more severe than a single-pathogen. Patients with more severe clinical courses who received macrolides treatment might have had a faster recovery than patients who received nonmacrolides.

P214 Classifiable early RA shows heterogeneous imaging features and potential means of stratification

Abstract Background/Aims Synovitis and tenosynovitis (TS) are key findings seen in patients with rheumatoid arthritis (RA) on musculoskeletal ultrasound (MSUS). Both power Doppler TS (PDTS) and power Doppler synovitis (PDUS) have also been reported in preclinical-RA. We aimed to describe the prevalence of PDTS and PDUS in a treatment-naïve, new-onset RA trial cohort and their association with clinical and disease activity data. Methods The VEDERA (Very early Etanercept and Methotrexate versus Methotrexate with/without Delayed Etanercept in RA) trial recruited 120 treatment-naïve, new-onset RA patients fulfilling ACR-EULAR 2010 classification criteria with at least moderate DAS28-ESR to either first-line etanercept + methotrexate (ETN+MTX) or methotrexate treat-to-target (MTX-TT), and included clinical and dominant hand (MCP 1-5, wrist, flexor tendons 1-5 and extensor carpii ulnaris tendon) MSUS assessments. Joint Grey scale (GS), PDUS and PDTS were assessed semi-quantitatively and converted to dichotomous scale (absent = total score 0; present = total score ≥ 1). Patients were categorised in one of four groups based on presence of PDUS and/or PDTS: no PDUS or PDTS (PDUS-PDTS-), PDTS alone (PDUS-PDTS+), PDUS alone (PDUS+PDTS-) and both PDUS and PDTS (PDUS+PDTS+). Clinical and GS features are described for these groups. Results At time of diagnosis, 17% (20/120) were PDUS-PDTS-, 16% (19/120) PDUS-PDTS+, 15% (18/120) PDUS+PDTS- and 53% (63/120) PDUS+PDTS+. Table 1 details demographic, clinical and disease activity data. GS was present in 60% (12/20) and 74% (14/19) of PDUS-PDTS- and PDUS-PDTS+ groups respectively, while all patients with PDUS + (PDUS+PDTS- and PDUS+PDTS+ groups) demonstrated GS (table 1). The PDUS+PDTS+ group had the shortest symptom duration. PDUS-PDTS- group had lower DAS28ESR, tender/swollen joint counts (28 joints), CRP and pain. The two groups with PDTS + (with/without PDUS) had higher visual analogue pain scores. Conclusion Heterogeneous imaging features of classifiable, new-onset RA likely reflect different rates of progress along the continuum and presentation, and timing in capturing PDUS and PDTS. Severe clinical and imaging features associate with more rapid presentation. A minor proportion show no clear features of PDUS or GS yet are classifiable as RA indicating other contributors to diagnosis. MSUS features may offer a means of stratifying patients and tailoring treatment approaches. Disclosure R. Shukla: None. R. Levy: None. P. Ho: None. K. Mankia: None. R.J. Wakefield: None. P. Emery: None. M.H. Buch: None.

Impact of Right Ventricular Trabeculation on Right Ventricular Function in Patients With Left Ventricular Non-compaction Phenotype.

Right ventricular (RV) involvement in left ventricular (LV) non-compaction (LVNC) remains unknown. We aimed to describe the RV volumetric, functional, and strain characteristics and clinical features of patients with LVNC phenotype and good LV ejection fraction (EF) using cardiac magnetic resonance to characterize RV trabeculation in LVNC and to study the relationships of RV and LV trabeculation with RV volume and function. This retrospective study included 100 Caucasian patients with LVNC phenotype and good LV-EF and 100 age- and sex-matched healthy controls. Patients were further divided into two subgroups according to RV indexed trabecular mass [RV-TMi; patients with RV hypertrabeculation (RV-HT) vs. patients with normal RV trabeculation (RV-NT)]. We measured the LV and RV volumetric, functional, and TMi values using threshold-based postprocessing software and the RV and LV strain values using feature tracking and collected the patients' LVNC-related clinical features. Patients had higher RV volumes, lower RV-EF, and worse RV strain values than controls. A total of 22% of patients had RV-TMi values above the reference range; furthermore, RV-HT patients had higher RV and LV volumes, lower RV- and LV-EF, and worse RV strain values than RV-NT patients. We identified a strong positive correlation between RV- and LV-TMi and between RV-TMi and RV volumes and a significant inverse relationship of both RV- and LV-TMi with RV function. The prevalence of LVNC-related clinical features was similar in the RV-HT and RV-NT groups. These results suggest that some patients with LVNC phenotype might have RV non-compaction with subclinical RV dysfunction and without more severe clinical features.

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

BackgroundMalformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in GRIN1 or GRIN2B, genes which encode for subunits of the N-methyl-D-aspartate receptor...