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JAMA Network Open Sep 2023Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child's development...
IMPORTANCE
Autism spectrum disorder is a common and early-emerging neurodevelopmental condition. While 80% of parents report having had concerns for their child's development before age 2 years, many children are not diagnosed until ages 4 to 5 years or later.
OBJECTIVE
To develop an objective performance-based tool to aid in early diagnosis and assessment of autism in children younger than 3 years.
DESIGN, SETTING, AND PARTICIPANTS
In 2 prospective, consecutively enrolled, broad-spectrum, double-blind studies, we developed an objective eye-tracking-based index test for children aged 16 to 30 months, compared its performance with best-practice reference standard diagnosis of autism (discovery study), and then replicated findings in an independent sample (replication study). Discovery and replication studies were conducted in specialty centers for autism diagnosis and treatment. Reference standard diagnoses were made using best-practice standardized protocols by specialists blind to eye-tracking results. Eye-tracking tests were administered by staff blind to clinical results. Children were enrolled from April 27, 2013, until September 26, 2017. Data were analyzed from March 28, 2018, to January 3, 2019.
MAIN OUTCOMES AND MEASURES
Prespecified primary end points were the sensitivity and specificity of the eye-tracking-based index test compared with the reference standard. Prespecified secondary end points measured convergent validity between eye-tracking-based indices and reference standard assessments of social disability, verbal ability, and nonverbal ability.
RESULTS
Data were collected from 1089 children: 719 children (mean [SD] age, 22.4 [3.6] months) in the discovery study, and 370 children (mean [SD] age, 25.4 [6.0] months) in the replication study. In discovery, 224 (31.2%) were female and 495 (68.8%) male; in replication, 120 (32.4%) were female and 250 (67.6%) male. Based on reference standard expert clinical diagnosis, there were 386 participants (53.7%) with nonautism diagnoses and 333 (46.3%) with autism diagnoses in discovery, and 184 participants (49.7%) with nonautism diagnoses and 186 (50.3%) with autism diagnoses in replication. In the discovery study, the area under the receiver operating characteristic curve was 0.90 (95% CI, 0.88-0.92), sensitivity was 81.9% (95% CI, 77.3%-85.7%), and specificity was 89.9% (95% CI, 86.4%-92.5%). In the replication study, the area under the receiver operating characteristic curve was 0.89 (95% CI, 0.86-0.93), sensitivity was 80.6% (95% CI, 74.1%-85.7%), and specificity was 82.3% (95% CI, 76.1%-87.2%). Eye-tracking test results correlated with expert clinical assessments of children's individual levels of ability, explaining 68.6% (95% CI, 58.3%-78.6%), 63.4% (95% CI, 47.9%-79.2%), and 49.0% (95% CI, 33.8%-65.4%) of variance in reference standard assessments of social disability, verbal ability, and nonverbal cognitive ability, respectively.
CONCLUSIONS AND RELEVANCE
In two diagnostic studies of children younger than 3 years, objective eye-tracking-based measurements of social visual engagement quantified diagnostic status as well as individual levels of social disability, verbal ability, and nonverbal ability in autism. These findings suggest that objective measurements of social visual engagement can be used to aid in autism diagnosis and assessment.
Topics: Female; Humans; Male; Autism Spectrum Disorder; Autistic Disorder; Cognition; Early Diagnosis; Prospective Studies; Infant; Child, Preschool; Double-Blind Method
PubMed: 37669054
DOI: 10.1001/jamanetworkopen.2023.30145 -
Biochemia Medica Oct 2023Cardiorenal syndrome (CRS), first defined in 2004 as a consequence of the interactions between the kidneys and other circulatory departments leading to acute heart... (Review)
Review
Cardiorenal syndrome (CRS), first defined in 2004 as a consequence of the interactions between the kidneys and other circulatory departments leading to acute heart failure, has since been recognized as a complex clinical entity that is hard to define, diagnose and classify. The framework for the classification of CRS according to pathophysiologic background was laid out in 2008, dividing CRS into five distinct phenotypes. However, determining the timing of individual organ injuries and making a diagnosis of either renal or cardiac failure remains an elusive task. In clinical practice, the diagnosis and phenotyping of CRS is mostly based on using laboratory biomarkers in order to directly or indirectly estimate the degree of end-organ functional decline. Therefore, a well-educated clinician should be aware of the effects that the reduction of renal and cardiac function has on the diagnostic and predictive value and properties of the most commonly used biomarkers ( troponins, N-terminal pro-brain natriuretic peptide, serum creatinine ). They should also be acquainted, on a basic level, with emerging biomarkers that are specific to either the degree of glomerular integrity (cystatin C) or tubular injury (neutrophil gelatinase-associated lipocalin). This narrative review aims to provide a scoping overview of the different roles that biomarkers play in both the diagnosis of CRS and the prognosis of the disease in patients who have been diagnosed with it, along with highlighting the most important pitfalls in their interpretation in the context of impaired renal and/or cardiac function.
Topics: Humans; Cardio-Renal Syndrome; Biomarkers; Heart Failure; Kidney; Prognosis
PubMed: 37545695
DOI: 10.11613/BM.2023.030502 -
Annals of Nuclear Medicine Mar 2024Rheumatoid Arthritis (RA) is a systemic inflammatory disorder that commonly presents with polyarthritis but can have multisystemic involvement and complications, leading... (Review)
Review
Rheumatoid Arthritis (RA) is a systemic inflammatory disorder that commonly presents with polyarthritis but can have multisystemic involvement and complications, leading to increased morbidity and mortality. The diagnosis of RA continues to be challenging due to its varied clinical presentations. In this review article, we aim to determine the potential of PET/CT to assist in the diagnosis of RA and its complications, evaluate the therapeutic response to treatment, and predict RA remission. PET/CT has increasingly been used in the last decade to diagnose, monitor treatment response, predict remissions, and diagnose subclinical complications in RA. PET imaging with [F]-fluorodeoxyglucose ([F]-FDG) is the most commonly applied radiotracer in RA, but other tracers are also being studied. PET/CT with [F]-FDG, [F]-NaF, and other tracers might lead to early identification of RA and timely evidence-based clinical management, decreasing morbidity and mortality. Although PET/CT has been evolving as a promising tool for evaluating and managing RA, more evidence is required before incorporating PET/CT in the standard clinical management of RA.
Topics: Humans; Positron Emission Tomography Computed Tomography; Fluorodeoxyglucose F18; Arthritis, Rheumatoid; Positron-Emission Tomography; Radiopharmaceuticals
PubMed: 38277115
DOI: 10.1007/s12149-023-01896-z -
European Radiology Dec 2023PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We...
OBJECTIVES
PSC strictures are routinely diagnosed on T2-MRCP as dominant- (DS) or high-grade stricture (HGS). However, high inter-observer variability limits their utility. We introduce the "potential functional stricture" (PFS) on T1-weighted hepatobiliary-phase images of gadoxetic acid-enhanced MR cholangiography (T1-MRC) to assess inter-reader agreement on diagnosis, location, and prognostic value of PFS on T1-MRC vs. DS or HGS on T2-MRCP in PSC patients, using ERCP as the gold standard.
METHODS
Six blinded readers independently reviewed 129 MRIs to diagnose and locate stricture, if present. DS/HGS was determined on T2-MRCP. On T1-MRC, PFS was diagnosed if no GA excretion was seen in the CBD, hilum or distal RHD, or LHD. If excretion was normal, "no functional stricture" (NFS) was diagnosed. T1-MRC diagnoses (NFS = 87; PFS = 42) were correlated with ERCP, clinical scores, labs, splenic volume, and clinical events. Statistical analyses included Kaplan-Meier curves and Cox regression.
RESULTS
Interobserver agreement was almost perfect for NFS vs. PFS diagnosis, but fair to moderate for DS and HGS. Forty-four ERCPs in 129 patients (34.1%) were performed, 39 in PFS (92.9%), and, due to clinical suspicion, five in NFS (5.7%) patients. PFS and NFS diagnoses had 100% PPV and 100% NPV, respectively. Labs and clinical scores were significantly worse for PFS vs. NFS. PFS patients underwent more diagnostic and therapeutic ERCPs, experienced more clinical events, and reached significantly more endpoints (p < 0.001) than those with NFS. Multivariate analysis identified PFS as an independent risk factor for liver-related events.
CONCLUSION
T1-MRC was superior to T2-MRCP for stricture diagnosis, stricture location, and prognostication.
CLINICAL RELEVANCE STATEMENT
Because half of PSC patients will develop clinically-relevant strictures over the course of the disease, earlier more confident diagnosis and correct localization of functional stricture on gadoxetic acid-enhanced MRI may optimize management and improve prognostication.
KEY POINTS
• There is no consensus regarding biliary stricture imaging features in PSC that have clinical relevance. • Twenty-minute T1-weighted MRC images correctly classified PSC patients with potential (PFS) vs with no functional stricture (NFS). • T1-MRC diagnoses may reduce the burden of diagnostic ERCPs.
Topics: Humans; Cholangiopancreatography, Magnetic Resonance; Constriction, Pathologic; Cholangitis, Sclerosing; Retrospective Studies; Magnetic Resonance Imaging; Cholangiopancreatography, Endoscopic Retrograde
PubMed: 37470827
DOI: 10.1007/s00330-023-09915-3 -
Danish Medical Journal Nov 2023Complicated appendicitis is a severe condition, requiring early diagnosis and intervention to prevent complications. We aimed to investigate how resident surgeons...
INTRODUCTION
Complicated appendicitis is a severe condition, requiring early diagnosis and intervention to prevent complications. We aimed to investigate how resident surgeons distinguish and manage complicated appendicitis and their perspectives on preoperative diagnostic markers.
METHODS
The electronic survey was face validated. It contained questions about demographics, resident surgeons' considerations on the preoperative diagnosis of complicated appendicitis, and views on the need for and relevance of preoperative diagnostic markers. It was sent to all resident surgeons in the Eastern part of Denmark.
RESULTS
Seven hospitals and their 92 resident surgeons received the survey, and 90% responded. Most resident surgeons used symptoms and signs of pain to diagnose suspected complicated appendicitis. Half of the surgeons used computed tomographies, and 95% used routine blood tests. Most surgeons (83%) would change the management of patients with preoperatively diagnosed complicated appendicitis in comparison to uncomplicated appendicitis. However, only 17% felt the need for a preoperative diagnostic marker.
CONCLUSIONS
Resident surgeons in Eastern Denmark use non-specific diagnostic techniques to distinguish complicated from uncomplicated appendicitis and would change treatment if appendicitis was diagnosed preoperatively. However, despite limited interest, our results suggest a need for new diagnostic markers to differentiate between the severity of appendicitis, thus enhancing education and training in managing such cases.
FUNDING
None.
TRIAL REGISTRATION
None.
Topics: Humans; Appendicitis; Appendectomy; Surveys and Questionnaires; Diagnosis, Differential; Tomography, X-Ray Computed; Acute Disease
PubMed: 38018705
DOI: No ID Found -
European Journal of Internal Medicine Mar 2024Whipple's disease, an extremely rare, chronic infection caused by Tropheryma whipplei, an actinobacterium ubiquitously present in the environment, is a multisystemic... (Review)
Review
Whipple's disease, an extremely rare, chronic infection caused by Tropheryma whipplei, an actinobacterium ubiquitously present in the environment, is a multisystemic condition that can affect several organs. Therefore, Whipple's disease should always be considered by physicians working across various branches of medicine, including internal medicine, rheumatology, infectious diseases, gastroenterology, haematology, and neurology. Initially, Whipple's disease is challenging to diagnose due to both its rarity and non-specific clinical features, almost indistinguishable from rheumatological conditions. A few years later, the onset of gastrointestinal symptoms increases the specificity of its clinical picture and helps in reaching the correct diagnosis. Diagnosis is typically made by finding PAS-positive macrophages in the lamina propria at duodenal biopsy. PCR for Tropheryma whipplei is nowadays also increasingly available, and represents an undeniable help in diagnosing this condition. However, it may also be misleading as false positives can occur. If not promptly recognized and treated, central nervous system involvement may develop, which can be fatal. The therapeutic gold standard has not yet been fully established, particularly in cases of recurrent disease, neurological involvement, and an immune reconstitution inflammatory syndrome that may arise following the initiation of antibiotic therapy.
Topics: Humans; Whipple Disease; Rare Diseases; Anti-Bacterial Agents; Biopsy; Tropheryma; Physicians
PubMed: 38105122
DOI: 10.1016/j.ejim.2023.12.009 -
European Journal of Cardio-thoracic... Aug 2023Non-small-cell lung cancer mortality has declined at a faster rate than incidence due to multiple factors, including changes in smoking behaviour, early detection which...
OBJECTIVES
Non-small-cell lung cancer mortality has declined at a faster rate than incidence due to multiple factors, including changes in smoking behaviour, early detection which shifts diagnosis, and novel therapies. Limited resources require that we quantify the contribution of early detection versus novel therapies in improving lung cancer survival outcomes.
METHODS
Non-small-cell lung cancer patients from the Surveillance, Epidemiology, and End Results-Medicare data were queried and divided into: (i) stage IV diagnosed in 2015 (n = 3774) and (ii) stage I-III diagnosed in 2010-2012 (n = 15 817). Multivariable Cox-proportional hazards models were performed to assess the independent association of immunotherapy or diagnosis at stage I/II versus III with survival.
RESULTS
Patients treated with immunotherapy had significantly better survival than those who did not (HRadj: 0.49, 95% confidence interval: 0.43-0.56), as did those diagnosed at stage I/II versus stage III (HRadj: 0.36, 95% confidence interval: 0.35-0.37). Patients on immunotherapy had a 10.7-month longer survival than those who were not. Stage I/II patients had an average survival benefit of 34 months, compared to stage III. If 25%% of stage IV patients not on immunotherapy received it, there would be a gain of 22 292 person-years survival per 100 000 diagnoses. A switch of only 25% from stage III to stage I/II would correspond to 70 833 person-years survival per 100 000 diagnoses.
CONCLUSIONS
In this cohort study, earlier stage at diagnosis contributed to life expectancy by almost 3 years, while gains from immunotherapy would contribute ½ year of survival. Given the relative affordability of early detection, risk reduction through increased screening should be optimized.
Topics: Humans; Aged; United States; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Cohort Studies; Medicare; Immunotherapy; Neoplasm Staging
PubMed: 37285318
DOI: 10.1093/ejcts/ezad203 -
BMC Pulmonary Medicine Jul 2023The diagnostic accuracy and safety of transbronchial lung cryobiopsy (TBLC) via a flexible bronchoscope under sedation compared with that of surgical lung biopsy (SLB)...
BACKGROUND
The diagnostic accuracy and safety of transbronchial lung cryobiopsy (TBLC) via a flexible bronchoscope under sedation compared with that of surgical lung biopsy (SLB) in the same patients is unknown.
METHODS
Retrospectively the data of fifty-two patients with interstitial lung diseases (median age: 63.5 years; 21 auto-antibody positive) who underwent TBLC followed by SLB (median time from TBLC to SLB: 57 days) was collected. The samples from TBLC and SLB were randomly labelled to mask the relationship between the two samples. Diagnosis was made independently by pathologists, radiologists, and pulmonary physicians in a stepwise manner, and a final diagnosis was made at multidisciplinary discussion (MDD). In each diagnostic step the specific diagnosis, the diagnostic confidence level, idiopathic pulmonary fibrosis (IPF) diagnostic guideline criteria, and treatment strategy were recorded.
RESULTS
Without clinical and radiological information, the agreement between the histological diagnoses by TBLC and SLB was 42.3% (kappa [κ] = 0.23, 95% confidence interval [CI]: 0.08-0.39). However, the agreement between the TBLC-MDD and SLB-MDD diagnoses and IPF/non-IPF diagnosis using the two biopsy methods was 65.4% (κ = 0.57, 95% CI: 0.42-0.73) and 90.4% (47/52), respectively. Out of 38 (73.1%) cases diagnosed with high or definite confidence at TBLC-MDD, 29 had concordant SLB-MDD diagnoses (agreement: 76.3%, κ = 0.71, 95% CI: 0.55-0.87), and the agreement for IPF/non-IPF diagnoses was 97.4% (37/38). By adding the pathological diagnosis, the inter-observer agreement of clinical diagnosis improved from κ = 0.22 to κ = 0.42 for TBLC and from κ = 0.27 to κ = 0.38 for SLB, and the prevalence of high or definite diagnostic confidence improved from 23.0% to 73.0% and from 17.3% to 73.0%, respectively. Of all 383 TBLC performed during the same period, pneumothorax occurred in 5.0% of cases, and no severe bleeding, acute exacerbation of interstitial lung disease, or fatal event was observed.
CONCLUSIONS
TBLC via a flexible bronchoscope under deep sedation is safely performed, and the TBLC-MDD diagnosis with a high or definite confidence level is concordant with the SLB-MDD diagnosis in the same patients.
Topics: Humans; Middle Aged; Retrospective Studies; Lung Diseases, Interstitial; Lung; Idiopathic Pulmonary Fibrosis; Biopsy; Bronchoscopy
PubMed: 37507693
DOI: 10.1186/s12890-023-02571-9 -
Medicine Nov 2023The clinical manifestations of Fabry disease affect the nerves, kidneys, heart, skin, gastrointestinal tract and eyes. Our aim is to familiarize people with the FD... (Review)
Review
RATIONALE
The clinical manifestations of Fabry disease affect the nerves, kidneys, heart, skin, gastrointestinal tract and eyes. Our aim is to familiarize people with the FD diagnostic process by reporting this case.
PATIENT CONCERNS
A 79-year-old-male patient presented with muscle pain and weakness in the extremities, also with an increasing erythrocyte sedimentation rate and C-reactive protein. Further examinations revealed that multiple organ involvement, such as rash, myocardial hypertrophy, peripheral neuropathy.
DIAGNOSES
Cardiac MR demonstrated hypertrophic cardiomyopathy, myocardial fibrosis and low myocardial T1 value. The patient was eventually diagnosed with Fabry disease through proteomics and genetic testing.
INTERVENTIONS
The treatment is enzyme replacement therapy (ERT). But this patient could not afford ERT and was given only general symptomatic treatment, pregabalin, and a gradual reduction in glucocorticoid.
OUTCOMES
The patient's symptoms of joint pain and muscle weakness reduced significantly, and ESR and CRP had decreased to normal.
LESSONS
FD is a rare disease and difficult to diagnose, but rare does not mean invisible. FD may present with signs and symptoms of rheumatic diseases. Rheumatologists should be aware and concerned about this disease.
Topics: Aged; Humans; Male; Enzyme Replacement Therapy; Fabry Disease; Giant Cell Arteritis; Heart; Kidney; Polymyalgia Rheumatica; Skin
PubMed: 37933054
DOI: 10.1097/MD.0000000000034630 -
Cortex; a Journal Devoted To the Study... Dec 2023Research into the newly-coined 'condition' of 'aphantasia', an individual difference involving the self-reported absence of voluntary visual imagery, has taken off in... (Review)
Review
Research into the newly-coined 'condition' of 'aphantasia', an individual difference involving the self-reported absence of voluntary visual imagery, has taken off in recent years, and more and more people are 'self-diagnosing' as aphantasic. Yet, there is no consensus on whether aphantasia should really be described as a 'condition', and there is no battery of psychometric instruments to detect or 'diagnose' aphantasia. Instead, researchers currently rely on the Vividness of Visual Imagery Questionnaire (VVIQ) to 'diagnose' aphantasia. We review here fundamental and methodological problems affecting aphantasia research stemming from an inadequate focus on how we should define aphantasia, whether aphantasia is a pathological condition, and the extensive use of VVIQ as a 'diagnostic test' for aphantasia. Firstly, we draw attention to 'literature blindness' for visual imagery research from the 1960s-1990s concerning individual differences in visual imagery vividness. Secondly, despite aphantasia being defined as a 'condition' where voluntary visual imagery is absent as indicated by the lowest score on the VVIQ, aphantasia studies inconsistently employ samples comprised of a mixture of participants with no visual imagery and low visual imagery, and we argue that this hinders the uncovering of the underlying cause of aphantasia. Thirdly, the scores used to designate the boundary between aphantasia and non-aphantasia are arbitrary and differ between studies, compromising the possibility for cross-study comparison of results. Fourthly, the problems of 'diagnosing' aphantasia are not limited to the academic sphere, as one can 'self-diagnose' online, for example by using the variant-VVIQ on the Aphantasia Network website. However, the variant-VVIQ departs from the original in ways likely to impact validity and accuracy, which could lead people to falsely believe they have been 'diagnosed' with aphantasia by a scientifically-validated measure. Fifthly, we discuss the hypothesis that people who believe they have been 'diagnosed' with aphantasia might be vulnerable to health anxiety, distress, and stigma. We conclude with a discussion about some fundamental aspects of how to classify a disorder, and suggest the need for a new psychometric measure of aphantasia.
Topics: Humans; Imagination; Individuality; Imagery, Psychotherapy; Surveys and Questionnaires; Self Report; Visual Perception
PubMed: 37948876
DOI: 10.1016/j.cortex.2023.09.004