Symptom-based Criteria Research Articles

Multitask Learning for Joint Diagnosis of Multiple Mental Disorders in Resting-State fMRI.

Facing the increasing worldwide prevalence of mental disorders, the symptom-based diagnostic criteria struggle to address the urgent public health concern due to the global shortfall in well-qualified professionals. Thanks to the recent advances in neuroimaging techniques, functional magnetic resonance imaging (fMRI) has surfaced as a new solution to characterize neuropathological biomarkers for detecting functional connectivity (FC) anomalies in mental disorders. However, the existing computer-aided diagnosis models for fMRI analysis suffer from unstable performance on large datasets. To address this issue, we propose an efficient multitask learning (MTL) framework for joint diagnosis of multiple mental disorders using resting-state fMRI data. A novel multiobjective evolutionary clustering algorithm is presented to group regions of interests (ROIs) into different clusters for FC pattern analysis. On the optimal clustering solution, the multicluster multigate mixture-of-expert model is used for the final classification by capturing the highly consistent feature patterns among related diagnostic tasks. Extensive simulation experiments demonstrate that the performance of the proposed framework is superior to that of the other state-of-the-art methods. Moreover, the potential for practical application of the framework is also validated in terms of limited computational resources, real-time analysis, and insufficient training data. The proposed model can identify the remarkable interpretative biomarkers associated with specific mental disorders for clinical interpretation analysis.

Functional connectivity associated with attention networks differs among subgroups of fibromyalgia patients: an observational case–control study

Fibromyalgia is a heterogenous chronic pain disorder diagnosed by symptom-based criteria. The aim of this study was to clarify different pathophysiological characteristics between subgroups of patients with fibromyalgia. We identified subgroups with distinct pain thresholds: those with a low pressure pain threshold (PL; 16 patients) and those with a normal pressure pain threshold (PN; 15 patients). Both groups experienced severe pain. We performed resting-state functional MRI analysis and detected 11 functional connectivity pairs among all 164 ROIs with distinct difference between the two groups (p < 0.001). The most distinctive one was that the PN group had significantly higher functional connectivity between the secondary somatosensory area and the dorsal attention network (p < 0.0001). Then, we investigated the transmission pathway of pain stimuli. Functional connectivity of the thalamus to the insular cortex was significantly higher in the PL group (p < 0.01 – 0.05). These results suggest that endogenous pain driven by top-down signals via the dorsal attention network may contribute to pain sensation in a subgroup of fibromyalgia patients with a normal pain threshold. Besides, external pain driven by bottom-up signals via the spinothalamic tract may contribute to pain sensations in another group of patients with a low pain threshold. Trial registration: UMIN000037712.

A Systematic Review: Fecal Bacterial Profile in Patients with Irritable Bowel Syndrome Analyzed with the GA-Map Dysbiosis Test Based on the 16S rRNA Gene of Bacterial Species or Groups.

The diagnosis of irritable bowel syndrome (IBS) is based on symptom-based criteria due to lack of reliable disease-specific biomarkers. Gut microbiota is perturbed in IBS and when comparing different methods used to analyze gut microbiota, the results might be obscured. Therefore, in this systematic review we aimed to investigate the profile of fecal bacterial markers and dysbiosis index (DI) in patients with IBS and IBS subgroups compared to healthy controls (HCs) conducted by the same method (GA-map Dysbiosis Test based on16S rRNA sequencing). We searched PubMed, EMBASE (Ovid) and Cochrane Library for case-control studies comparing fecal gut microbiota analyzed with the GA-map® Dysbiosis Test (Oslo, Norway) in patients with IBS and HCs. Our outcomes were the difference in fecal bacterial markers and DI in patients with IBS and IBS subgroups compared to HCs. The search identified 28 citations; five articles were included. Most studies evaluated fecal bacterial markers and DI in patients with diarrhea-predominant IBS (IBS-D). Results of fecal bacteria profile in IBS and IBS subgroups compared to HCs are inconsistent, however, two studies showed increased levels of Ruminococcus gnavus in IBS-D compared to HCs and results of DI indicated IBS and IBS subgroups (especially IBS-D) having higher DI compared to HCs. This systematic review revealed inconsistent findings in respect to differences in bacterial markers between IBS and IBS subgroups with HCs in studies using the GA-map Dysbiosis Test based on 16S rRNA sequencing. However, the test is quite novel, and few studies have used the method so far. More research comparing fecal microbiota profile differences in IBS and IBS subgroups compared to HCs utilizing the same method of analysis is needed to give us further insight into the gut bacteria profile in IBS and the clinical consequences of intestinal dysbiosis.

Diagnostic strategy of irritable bowel syndrome: a low- and middle-income country perspective.

Irritable bowel syndrome (IBS) is a highly prevalent gastrointestinal disorder associated with substantial impairment which considerably burdens healthcare systems worldwide. Research on IBS has largely been conducted in high-income countries posing barriers to the application of diagnostic strategies in low- and middle-income countries (LMICs) due to differences in disease characteristics, healthcare resources, and socioeconomic factors. This review discusses the diagnostic issues associated with LMICs. We present a concise overview of the relevant approaches and propose a diagnostic strategy based on the latest evidence. A positive diagnostic strategy that relies on appropriate symptom-based criteria is crucial within the diagnostic framework. A combination of complete blood count, fecal occult blood test, and complete stool test may reliably identify individuals with suspected IBS who are more likely to have organic diseases, thus justifying the necessity for a colonoscopy. Eventually, we developed a diagnostic algorithm based on a limited setting perspective that summarizes the available evidence and may be applied in LMICs.

Assessing Diagnostic Performance of Modifications to the Rome IV Criteria for Irritable Bowel Syndrome

The gold standard symptom-based criteria for diagnosis of irritable bowel syndrome (IBS) are the Rome IV criteria.1 These are more restrictive than their predecessor, Rome III, because the cardinal feature required to meet criteria for IBS was changed to presence of abdominal pain alone, rather than abdominal pain or discomfort.2 This change was made because discomfort was believed to be an ambiguous term, with no equivalent in some languages. In addition, symptom frequency required for the presence of abdominal pain was increased to 1 day per week from 2 to 3 days per month. This has led to reduced sensitivity for detecting IBS and a 50% decrease in the prevalence of the disorder in the community.3,4 In a cross-sectional survey applying both Rome IV and III criteria to people living with IBS, 89% of those with Rome III-defined IBS not meeting Rome IV criteria did not meet Rome IV criteria because of this change in pain frequency.5 Previous iterations of the Rome criteria have performed only modestly in predicting a diagnosis of IBS.6-8 However, in a validation study, the Rome IV criteria outperformed Rome III,9 largely because their more restrictive nature made them more specific than Rome III. We assessed whether modifications to the Rome IV criteria led to a better trade-off between sensitivity and specificity.

Aberrant resting-state co-activation network dynamics in major depressive disorder

Major depressive disorder (MDD) is a globally prevalent and highly disabling disease characterized by dysfunction of large-scale brain networks. Previous studies have found that static functional connectivity is not sufficient to reflect the complicated and time-varying properties of the brain. The underlying dynamic interactions between brain functional networks of MDD remain largely unknown, and it is also unclear whether neuroimaging-based dynamic properties are sufficiently robust to discriminate individuals with MDD from healthy controls since the diagnosis of MDD mainly depends on symptom-based criteria evaluated by clinical observation. Resting-state functional magnetic resonance imaging (fMRI) data of 221 MDD patients and 215 healthy controls were shared by REST-meta-MDD consortium. We investigated the spatial-temporal dynamics of MDD using co-activation pattern analysis and made individual diagnoses using support vector machine (SVM). We found that MDD patients exhibited aberrant dynamic properties (such as dwell time, occurrence rate, transition probability, and entropy of Markov trajectories) in some transient networks including subcortical network (SCN), activated default mode network (DMN), de-activated SCN-cerebellum network, a joint network, activated attention network (ATN), and de-activated DMN-ATN, where some dynamic properties were indicative of depressive symptoms. The trajectories of other networks to deactivated DMN-ATN were more accessible in MDD patients. Subgroup analyses also showed subtle dynamic changes in first-episode drug-naïve (FEDN) MDD patients. Finally, SVM achieved preferable accuracies of 84.69%, 76.77%, and 88.10% in discriminating patients with MDD, FEDN MDD, and recurrent MDD from healthy controls with their dynamic metrics. Our findings reveal that MDD is characterized by aberrant dynamic fluctuations of brain network and the feasibility of discriminating MDD patients using dynamic properties, which provide novel insights into the neural mechanism of MDD.

Sex-specific heart failure burden across the United States: Global burden of disease 1990-2019

BackgroundHeart failure (HF) has unique aspects that vary by biological sex. Thus, understanding sex-specific trends of HF in the US population is crucial to develop targeted interventions. We aimed to analyze the burden of HF in female and male patients across the US, from 1990 to 2019. MethodsUsing the Global Burden of Disease (GBD) study data from 2019, we performed an analysis of the burden of HF from 1990-2019, across US states and regions. The GBD defined HF through studies that used symptom-based criteria and expressed the burden of HF as the age-adjusted prevalence and years lived with disability (YLDs) rates per 100,000 individuals. ResultsThe age-adjusted prevalence of HF for the US in 2019 was 926.2 (95% UI [799.6, 1,079.0]) for females and 1,291.2 (95% UI [1,104.1, 1,496.8]) for males. Notably, our findings also highlight cyclic fluctuations in HF prevalence over time, with peaks occurring in the mid-1990s and around 2010, while reaching their lowest points in around 2000 and 2018. Among individuals >70 years of age, the absolute number of individuals with HF was higher in females, and this age group doubled the absolute count between 1990 and 2019. Comparing 1990-1994 to 2015-2019, 10 states had increased female HF prevalence, while only 4 states increased male prevalence. Overall, Western states had the greatest relative decline in HF burden, in both sexes. ConclusionThe burden of HF in the US is high, although the magnitude of this burden varies according to age, sex, state, and region. There is a significant increase in the absolute number of individuals with HF, especially among women >70 years, expected to continue due to the aging population.

Abstract 13595: Sex-Specific Burden of Peripheral Arterial Disease Across the United States: Analysis of the Global Burden of Disease 1990-2019

Background: Peripheral arterial disease is a ubiquitous disease that varies in terms of morbidity and mortality due to biologic sex, including the impact of traditional and non-traditional risk factors and sex-specific conditions that adds complexity and contributes to the existing disparities. Thus, understanding the sex-specific trends of PAD in the United States population is critical for developing targeted interventions. We sought to analyze the burden of PAD in male and female patients across the US from 1990 to 2019. Methods: Using the Global Burden of Disease (GBD) study data from 2019, we performed an analysis of the burden of PAD from 1990-2019, across US states. The GBD defined PAD based on studies that used symptom-based criteria and expressed the burden of PAD as the age-standardized prevalence and disability adjusted life years (DALYs) rates. We additionally estimated the regional relative change in DALYs. Results: In 2019, there were 5.4 million males and 7.1 million females with PAD in the US. Absolute PAD prevalence and DALYs increased in both sexes between 1990 and 2019, figure. The 2019 age-standardized prevalence of PAD (per 100,000) in the US in 2019 was 2,124 (95% Uncertainty Interval (UI): 1905-2354), and 2,302 (95% UI: 2,079-2,522) for females. Between 1990 and 2019, females had higher increase in age-standardized PAD DALYs compared with males (13.8% vs 5.5%). Significant state-level geographic variance was noted in age-standardized prevalence of PAD in both sexes (2-fold difference between lowest and highest state), figure. Conclusion: The burden of PAD is increasing in the US owing to the aging population. The absolute prevalence of PAD is higher in women compared with men in the US. Over the past 3 decades, there has been a more significant increase age-standardized PAD DALYs in women as compared with men. Future studies are needed to investigate and target these disparities.

Prevalence and burden of coconut allergy in the United States

BackgroundEpidemiologic data on coconut allergy remains sparse in the United States despite the labeling requirement by the Food Allergen Labeling and Consumer Protection Act for products containing coconut. ObjectiveTo provide current estimates of the prevalence, severity, determinants, and distribution of coconut allergy in the United States. MethodsA comprehensive food allergy prevalence survey was administered to a nationally representative, probability-based sample of US households between October 1, 2015 and September 30, 2016. Eligible respondents included adults who were able to complete self- and parent-proxy report surveys in English or Spanish by means of web or phone. ResultsUsing survey responses from 78,851 individuals, 0.39% (95% confidence interval [CI], 0.33-0.45) of the US general population were categorized as having convincing coconut allergy. Among children, 0.22% (95% CI, 0.16-0.30) were estimated to have coconut allergy compared with 0.43% (95% CI, 0.37-0.51) of adults, whereas only 0.12% (95% CI, 0.08-0.18) of these children and 0.20% (95% CI, 0.16-0.24) of adults with convincing immunoglobulin E (IgE)–mediated coconut allergy reported physician-confirmed diagnoses. A current epinephrine prescription was reported by 40.1% (95% CI, 33.3-47.4) of those with convincing coconut allergy. Reactions involving multiple organ systems were reported by 47.5% (95% CI, 40.1-54.9) of those with convincing coconut allergy. ConclusionRoughly 1 in 260 Americans report symptoms consistent with an IgE-mediated allergy to coconut, although fewer than half of these individuals report receiving a physician diagnosis. Our data indicate that most individuals with reported coconut allergy meeting symptom-based criteria for convincingly IgE-mediated disease have comorbid FAs, and for many patients, clinical management seems to be suboptimal.

A Diagnosis of Irritable Bowel Syndrome Using Rome IV Criteria and Limited Investigations is Durable in Secondary Care

Irritable bowel syndrome (IBS) is a positive diagnosis, made using symptom-based criteria and limited, judicious, investigation. However, this may lead to uncertainty on the part of clinicians regarding potential for a missed diagnosis of organic gastrointestinal disease. Few studies have examined durability of a diagnosis of IBS, and none have used the current gold standard to diagnose IBS, the Rome IV criteria. We collected complete symptom data from 373 well-characterized adults meeting Rome IV criteria for IBS referred to a single UK clinic between September 2016 and March 2020. All patients underwent relatively standardized work-up to exclude relevant organic disease before diagnosis. We followed these individuals up to December 2022, assessing rates of rereferral, reinvestigation, and missed organic gastrointestinal disease. During a mean follow-up of 4.2 years per patient (total follow-up in all patients, 1565 years), 62 (16.6%) patients were rereferred. Of these, 35 (56.5%) were rereferred for IBS and 27 (43.5%) for other gastrointestinal symptoms. Among the 35 rereferred with IBS this was caused by a change in symptoms in only 5 (14.3%). Reinvestigation was undertaken in 21 (60.0%) of 35 rereferred with IBS and 22 (81.5%) of 27 rereferred with other symptoms (P= .12). Only 4 (9.3% of those reinvestigated and 1.1% of the entire cohort) new cases of relevant organic disease, which may have been responsible for IBS symptoms at baseline, were identified (1 case of chronic calcific pancreatitis among those rereferred with IBS and 1 case each of inflammatory bowel disease-unclassified, moderate bile acid diarrhea, and small bowel obstruction among those rereferred with other gastrointestinal symptoms). Despite rereferral for gastrointestinal symptoms among 1 in 6 patients overall, with almost 10% rereferred with ongoing IBS symptoms, and substantial reinvestigation rates, missed organic gastrointestinal disease occurred in only 1%. A diagnosis of Rome IV IBS after limited investigation is safe and durable.

Biomarkers for myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): a systematic review

BackgroundMyalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a multifaceted condition that affects most body systems. There is currently no known diagnostic biomarker; instead, diagnosis is dependent on application of symptom-based case criteria following exclusion of any other potential medical conditions. While there are some studies that report potential biomarkers for ME/CFS, their efficacy has not been validated. The aim of this systematic review is to collate and appraise literature pertaining to a potential biomarker(s) which may effectively differentiate ME/CFS patients from healthy controls.MethodsThis systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses and Cochrane review guidelines. PubMed, Embase and Scopus were systematically searched for articles containing “biomarker” and “ME/CFS” keywords in the abstract or title and if they included the following criteria: (1) were observational studies published between December 1994 and April 2022; (2) involved adult human participants; (3) full text is available in English (4) original research; (5) diagnosis of ME/CFS patients made according to the Fukuda criteria (1994), Canadian Consensus Criteria (2003), International Consensus Criteria (2011) or Institute of Medicine Criteria (2015); (6) study investigated potential biomarkers of ME/CFS compared to healthy controls. Quality and Bias were assessed using the Joanna Briggs Institute Critical Appraisal Checklist for Case Control Studies.ResultsA total of 101 publications were included in this systematic review. Potential biomarkers ranged from genetic/epigenetic (19.8%), immunological (29.7%), metabolomics/mitochondrial/microbiome (14.85%), endovascular/circulatory (17.82%), neurological (7.92%), ion channel (8.91%) and physical dysfunction biomarkers (8.91%). Most of the potential biomarkers reported were blood-based (79.2%). Use of lymphocytes as a model to investigate ME/CFS pathology was prominent among immune-based biomarkers. Most biomarkers had secondary (43.56%) or tertiary (54.47%) selectivity, which is the ability for the biomarker to identify a disease-causing agent, and a moderate (59.40%) to complex (39.60%) ease-of-detection, including the requirement of specialised equipment.ConclusionsAll potential ME/CFS biomarkers differed in efficiency, quality, and translatability as a diagnostic marker. Reproducibility of findings between the included publications were limited, however, several studies validated the involvement of immune dysfunction in the pathology of ME/CFS and the use of lymphocytes as a model to investigate the pathomechanism of illness. The heterogeneity shown across many of the included studies highlights the need for multidisciplinary research and uniform protocols in ME/CFS biomarker research.

Overlap of disorders of gut–brain interaction: a systematic review and meta-analysis

Rome criteria differentiate distinct types of disorders of gut-brain interaction (DGBI); also known as functional gastrointestinal disorders. Overlap of symptom categories frequently occurs. This systematic review and meta-analysis aimed to define the prevalence of DGBI overlap and compare overlap in population-based, primary care or tertiary care health settings. Furthermore, we aimed to compare symptom severity of psychological comorbidities in DGBI with and without overlap. For this systematic review and meta-analysis we searched MEDLINE (PubMed) and Embase electronic databases from inception until March 1, 2022, for original articles and conference abstracts of observational cross-sectional, case-controlled, or cohort design studies that reported the prevalence of DGBI overlap in adult participants (aged ≥18 years). We included only those studies where the diagnosis of DGBI was based on clinical assessment, questionnaire data, or specific symptom-based criteria. Studies were excluded if reporting on mixed populations of DGBI and organic diseases. Aggregate patient data were extracted from eligible published studies. The prevalence of DGBI overlap in all studies was pooled using the DerSimonian and Laird random effects model, and further analysis stratified by subgroups (care setting, diagnostic criteria, geographic region, and gross domestic product per capita). We also assessed the relationship between DGBI overlap with anxiety, depression, and quality of life symptom scores. This study was registered with PROSPERO (CRD42022311101). 46 of 1268 screened studies, reporting on 75 682 adult DGBI participants, were eligible for inclusion in this systematic review and meta-analysis. Overall, 24 424 (pooled prevalence 36·5% [95% CI 30·7 to 42·6]) participants had a DGBI overlap, with considerable between-study heterogeneity (I2=99·51, p=0·0001). In the tertiary health-care setting, overlap among participants with DGBI was more prevalent (8373 of 22 617, pooled prevalence 47·3% [95% CI 33·2 to 61·7]) compared with population-based cohorts (11 332 of 39 749, pooled prevalence 26·5% [95% CI 20·5 to 33·4]; odds ratio 2·50 [95% CI 1·28 to 4·87]; p=0·0084). Quality of life physical component scores were significantly lower in participants with DGBI overlap compared with participants without overlap (standardised mean difference -0·47 [95% CI -0·80 to -0·14]; p=0·025). Participants with DGBI overlap had both increased symptom scores for anxiety (0·39 [95% CI 0·24 to 0·54]; p=0·0001) and depression (0·41 [0·30 to 0·51]; p=0·0001). Overlap of DGBI subtypes is frequent, and is more prevalent in tertiary care settings and associated with more severe symptom manifestations or psychological comorbidities. Despite the large sample size, the comparative analyses revealed substantial heterogeneity, and the results should be interpreted with caution. National Health and Medical Research Council and Centre for Research Excellence.

Evaluation of the Symptom-Based Diagnostic Criteria for Irritable Bowel Syndrome in Conjunction With Clinical Examinations and Laboratory Investigations.

Background Irritable bowel syndrome (IBS) is a chronic condition characterized by persistent abdominal pain or discomfort and impaired bowel function. Symptoms often vary in onset and severity, are worse during flare-ups, and affect the patient's quality of life. A positive diagnosis of IBS based on clinical symptoms may lead to a better outcome. There are different diagnostic criteria like Kruis score, Manning criteria, Rome I, II, III, and IV criteria, and each new one addresses the deficiencies of the previous ones. We analyze the effectiveness of the most commonly used diagnostic criteria associated with clinical examinations and laboratory tests in treating IBS in these studies. Methodology This is a retrospective study in which data from IBS subjects were collected by simple random samplingand compared using Manning criteria, Kruis score, and Rome IV criteria. Laboratory tests included complete blood count (CBC), erythrocyte sedimentation rate (ESR), andC-reactive protein (CRP). Results Of the 130 patients, IBS is more prevalent in adults aged 30-50 years, with a male predominance. The Kruis score outperformed the Manning criterion in distinguishing between organic bowel disease and IBS.This, together with the Rome IV criteria, increases the likelihood of identifying IBS. Conclusions Differentiating IBS from functional and organic gastrointestinal problems is critical. Irritable bowel syndrome can be diagnosed using symptom-based diagnostic criteria. Clinical observation and physical examination should be supplemented with laboratory indicators.

Renewed call to improve approaches for developing fetal alcohol spectrum disorder diagnostic criteria: Commentary on "Comparison of three systems for the diagnosis of fetal alcohol spectrum disorders in a community sample".

Renewed call to improve approaches for developing fetal alcohol spectrum disorder diagnostic criteria: Commentary on "Comparison of three systems for the diagnosis of fetal alcohol spectrum disorders in a community sample".

Irritable Bowel Syndrome Is Not Associated with an Increased Risk of Polyps and Colorectal Cancer: A Systematic Review and Meta-Analysis

ObjectivesColorectal cancer (CRC) is the third most common malignancy in the US. Several factors are associated with increased/decreased CRC risk and often linked to adenomatous colorectal polyps (CRP). Recent studies suggest a lower risk of neoplastic lesions among irritable bowel syndrome (IBS) patients. We aimed to systematically assess the occurrence of CRC and CRP in IBS patients.MethodsSearches of the Medline, Cochrane, and EMBASE databases were performed, blindly and independently, by two investigators. Studies of CRC or CRP incidence in IBS patients (diagnosed by Rome or other symptom-based criteria) were eligible for inclusion. CRC and CRP effect estimates were pooled in meta-analyses using random models.ResultsOf 4941 non-duplicate studies, 14 were included, comprising 654,764 IBS patients and 2,277,195 controls in 8 cohort studies, and 26,641 IBS patients and 87,803 controls in 6 cross-sectional studies. Pooled analysis revealed a significantly decreased prevalence of CRP in IBS subjects vs. controls, with a pooled odds ratio (OR) of 0.29 (95% CI (0.15, 0.54)). There was significant heterogeneity between studies (I2 = 96%, p < 0.01). This finding persisted when studies which did not report pre-cancerous polyps separately were excluded (OR 0.23, 95% CI (0.15, 0.35), I2 = 85%, p < 0.01). CRC prevalence was lower in IBS subjects, but this did not reach statistical significance (OR 0.40, 95% CI (0.09, 1.77]).ConclusionOur analyses reveal a decreased incidence of colorectal polyps in IBS, although CRC did not reach significance. Mechanistic studies with detailed genotypic analysis and clinical phenotyping are needed to better elucidate the potentially protective effect of IBS on CRC development.

Disorders of Gut-Brain Interaction in a National Cohort of Children With Down Syndrome

Disorders of brain-gut interaction (DGBIs) are present in adults and children around the world. Down syndrome (DS) is the most common chromosomal condition in humans. While DS has associations with many organic medical conditions, the frequency of DGBIs in children and adolescents with DS has not previously been studied. We assess the rate of DGBIs in children and adolescents 4-18 years of age with DS in the United States using the Rome IV criteria by caregiver report. This is a cross-sectional national survey study in which caregivers (n = 114) of children with DS completed an online survey about their child's gastrointestinal symptoms and quality of life (QoL). Using the Rome IV parent-report diagnostic questionnaire, 51.8% of children met symptom-based criteria for at least 1 DGBI. Functional constipation (36.0%) and irritable bowel syndrome (14.9%) were the most common disorders identified. QoL was lower in children with at least 1 disorder as compared to children who did not meet criteria for any disorders (mean QoL = 62.3 vs mean QoL = 72.9, P < 0.001). Almost all children with DS and concomitant autism (87.5%) had at least 1 DGBI. DGBIs are common in children with DS and are associated with diminished QoL.

Classifying ASD based on time-series fMRI using spatial–temporal transformer

As the prevalence of autism spectrum disorder (ASD) increases globally, more and more patients need to receive timely diagnosis and treatment to alleviate their suffering. However, the current diagnosis method of ASD still adopts the subjective symptom-based criteria through clinical observation, which is time-consuming and costly. In recent years, functional magnetic resonance imaging (fMRI) neuroimaging techniques have emerged to facilitate the identification of potential biomarkers for diagnosing ASD. In this study, we developed a deep learning framework named spatial–temporal Transformer (ST-Transformer) to distinguish ASD subjects from typical controls based on fMRI data. Specifically, a linear spatial–temporal multi-headed attention unit is proposed to obtain the spatial and temporal representation of fMRI data. Moreover, a Gaussian GAN-based data balancing method is introduced to solve the data unbalance problem in real-world ASD datasets for subtype ASD diagnosis. Our proposed ST-Transformer is evaluated on a large cohort of subjects from two independent datasets (ABIDE I and ABIDE II) and achieves robust accuracies of 71.0% and 70.6%, respectively. Compared with state-of-the-art methods, our results demonstrate competitive performance in ASD diagnosis.

The Potential Role of Neurofilament Light in Mild Traumatic Brain Injury Diagnosis: A Systematic Review.

Mild traumatic brain injury (mTBI) is an insult to the CNS often overlooked at the time of presentation due to variable symptomatology and undetectable nature on CT/MRI. Increased exposure to repetitive head injuries results in a high prevalence of mTBI among athletes and military personnel. While most patients fully recover with rest, some are at risk for long-lasting neurocognitivedysfunction, leading to a high morbidity and cost burden on the healthcare system. Currently, there are no unified symptom-based criteria or gold standard objective measurement for mTBI. Neurofilament light (Nf-L) is a highly sensitive biomarker for axonal injury with the potential to serve as an objective serum measurement for mTBI. This systematic review investigates the ability of Nf-L to accurately diagnose acute mTBI in athletes and military personnel. A comprehensive literature search of PubMed, Scopus, and Google Scholar from 2010 to 2021 using keywords neurofilament light chain, mTBI, concussion, athletes, and military identified 239 articles for eligibility screening. Ten articles met the inclusion criteria for qualitative analysis, with extracted data including Nf-L levels, recovery characteristics, and neuroimaging results. Of the 10 studies meeting inclusion criteria, one was military-related, five were sports-related, and four were mixed-focus. Six studies investigated the association between mTBI and Nf-L levels within 24 hours of injury. Four of these studies involved athletes, with three showing evidence of acute Nf-L elevations. No evidence of acute Nf-L elevations was reported among military personnel or emergency department patients. Nf-L elevations were recorded at various time points greater than 24 hours post-injury in athletes (two studies) and emergency department patients (one study). Positive associations were found between Nf-L levels and loss of consciousness/post-traumatic amnesia (one study), positive neuroimaging findings (three studies), and prolonged recovery times (three studies). We are unable to conclude whether Nf-L has the capacity for acute diagnosis of mTBI or the optimal time for serum measurement. Nf-L does, however, shows promise as a prognostic factor for mTBI complications, neuroimaging findings, and recovery. Additional studies are warranted, as the use of Nf-L in early diagnosis of mTBI in the future would improve clinical management while decreasing complications and healthcare costs.

Markers of Schizophrenia-A Critical Narrative Update.

Schizophrenia is a long-term mental disease, associated with functional impairment. Therefore, it is important to make an accurate diagnosis and implement the proper treatment. Biomarkers may be a potential tool for these purposes. Regarding advances in biomarker studies in psychosis, the current symptom-based criteria seem to be no longer sufficient in clinical settings. This narrative review describes biomarkers of psychosis focusing on the biochemical (peripheral and central), neurophysiological, neuropsychological and neuroimaging findings as well as the multimodal approach related with them. Endophenotype markers (especially neuropsychological and occulomotor disturbances) can be currently used in a clinical settings, whereas neuroimaging glutamate/glutamine and D2/D3 receptor density changes, as well as immunological Th2 and PRL levels, seem to be potential biomarkers that need further accuracy tests. When searching for biochemical/immunological markers in the diagnosis of psychosis, the appropriate time of body fluid collection needs to be considered to minimize the influence of the stress axis on their concentrations. In schizophrenia diagnostics, a multimodal approach seems to be highly recommended.

Disorders of gut-brain interaction: Highly prevalent and burdensome yet under-taught within medical education.

Background and ObjectiveTo determine the population prevalence and associated health impairment of disorders of gut‐brain interaction (DGBI) across Great Britain, and the emphasis placed upon them within medical education.MethodsAn Internet‐based cross‐sectional health survey was completed by 1906 general population adults across Great Britain without self‐reported organic GI disease. The survey enquired for demographics, symptom‐based criteria for Rome IV DGBI, healthcare use, non‐GI somatic symptoms, and quality of life. As a separate analysis, we evaluated which DGBI are considered core knowledge at undergraduate medical school level and post‐graduate specialization level for Gastroenterologists and General Practitioners.ResultsThe overall prevalence of DGBI across Great Britain was 37%, being similar for England (37%), Scotland (33%), and Wales (36%); p = 0.66. There was no difference between English regions (range 33%–43%, p = 0.26). The prevalence of DGBI was highest in those aged 18–40 years (40%), then 40–64 years (37%), and least amongst those ≥65 years (29%); p < 0.001. The most common DGBI were bowel disorders (30%), followed by gastroduodenal (10.5%), anorectal (8.1%) and oesophageal disorders (6.2%). Individuals with DGBI were significantly more likely than those without DGBI to have increased GI‐related healthcare visits, medication use, surgical interventions, non‐GI somatic symptoms, and reduced quality of life. One‐in‐three people with DGBI had multiple GI organ regions involved and this correlated with increased health impairment (p < 0.001).The only DGBI mentioned across all medical training curricula is irritable bowel syndrome, while the General Practitioner and Gastroenterology Curricula also recognise the outdated term non‐ulcer dyspepsia (as opposed to functional dyspepsia). The 2010 Gastroenterology Curriculum also includes functional constipation and disordered defecation, with the incoming 2022 iteration adding in functional upper GI syndromes, functional abdominal pain, and opioid‐induced GI disturbances.ConclusionDisorders of gut‐brain interaction are common across Great Britain and incur substantial health impairment. However, they are generally under‐taught within the British medical education system. Increasing awareness and education of disorders of gut‐brain interaction might improve patient outcomes.