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JAMA Psychiatry Jan 2024Bipolar disorder (BD) is frequently misdiagnosed as major depressive disorder (MDD) because of overlapping symptoms and the lack of objective diagnostic tools.
IMPORTANCE
Bipolar disorder (BD) is frequently misdiagnosed as major depressive disorder (MDD) because of overlapping symptoms and the lack of objective diagnostic tools.
OBJECTIVE
To identify a reproducible metabolomic biomarker signature in patient dried blood spots (DBSs) that differentiates BD from MDD during depressive episodes and assess its added value when combined with self-reported patient information.
DESIGN, SETTING, AND PARTICIPANTS
This diagnostic analysis used samples and data from the Delta study, conducted in the UK between April 27, 2018, and February 6, 2020. The primary objective was to identify BD in patients with a recent (within the past 5 years) diagnosis of MDD and current depressive symptoms (Patient Health Questionnaire-9 score of 5 or more). Participants were recruited online through voluntary response sampling. The analysis was carried out between February 2022 and July 2023.
MAIN OUTCOMES AND MEASURES
Patient data were collected using a purpose-built online questionnaire (n = 635 questions). DBS metabolites (n = 630) were analyzed using a targeted mass spectrometry-based platform. Mood disorder diagnoses were established using the Composite International Diagnostic Interview.
RESULTS
Of 241 patients in the discovery cohort, 170 (70.5%) were female; 67 (27.8%) were subsequently diagnosed with BD and 174 (72.2%) were confirmed as having MDD; and the mean (SD) age was 28.1 (7.1) years. Of 30 participants in the validation cohort, 16 (53%) were female; 9 (30%) were diagnosed with BD and 21 (70%) with MDD; and the mean (SD) age was 25.4 (6.3) years. DBS metabolite levels were assessed in 241 patients with depressive symptoms with a recent diagnosis of MDD, of whom 67 were subsequently diagnosed with BD by the Composite International Diagnostic Interview and 174 were confirmed as having MDD. The identified 17-biomarker panel provided a mean (SD) cross-validated area under the receiver operating characteristic curve (AUROC) of 0.71 (SD, 0.12; P < .001), with ceramide d18:0/24:1 emerging as the strongest biomarker. Combining biomarker data with patient-reported information significantly enhanced diagnostic performance of models based on extensive demographic data, PHQ-9 scores, and the outcomes from the Mood Disorder Questionnaire. The identified biomarkers were correlated primarily with lifetime manic symptoms and were validated in a separate group of patients who received a new clinical diagnosis of MDD (n = 21) or BD (n = 9) during the study's 1-year follow-up period, with a mean (SD) AUROC of 0.73 (0.06; P < .001).
CONCLUSIONS AND RELEVANCE
This study provides a proof of concept for developing an accessible biomarker test to facilitate the differential diagnosis of BD and MDD and highlights the potential involvement of ceramides in the pathophysiological mechanisms of mood disorders.
Topics: Humans; Female; Adult; Male; Bipolar Disorder; Depressive Disorder, Major; Mood Disorders; Diagnosis, Differential; Biomarkers
PubMed: 37878349
DOI: 10.1001/jamapsychiatry.2023.4096 -
Indian Journal of Pediatrics Aug 2023Lung function testing is an essential modality of investigation in children as it provides objective evidence of lung disease/health. With advances in technology,... (Review)
Review
Lung function testing is an essential modality of investigation in children as it provides objective evidence of lung disease/health. With advances in technology, various tests are available that can aid in the diagnosis of lung disease, assess the progression and response to therapy and document the lung development and evolving lung diseases in infants. This narrative review discusses lung function tests in infants and children. Currently, lung function tests can be performed in every age group, from neonates to the elderly. Spirometry and peak expiratory flow rate (PEFR) are the most employed tests in children more than six years of age. Spirometry helps diagnose and monitoring of both obstructive and restrictive diseases. There is a need for expertise to perform and interpret spirometry correctly. The forced oscillation technique (FOT) or impulse oscillometry (IOS) is done with tidal volume breathing and is feasible even in preschool children. Their utility is mainly restricted to asthma in children at present. Lung function tests can be performed in neonates, infants and children using infant pulmonary function test (PFT) equipment, although their availability is limited. Diffusion capacity for carbon monoxide (DLCO) is a valuable tool in restrictive lung diseases. Lung volumes can be assessed by body plethysmography and multiple washout technique. The latter can also assess lung clearance index. It is essential to perform and interpret the lung function test results correctly and correlate them with the clinical condition for optimum treatment and outcome.
Topics: Child, Preschool; Infant, Newborn; Infant; Humans; Aged; Oscillometry; Respiratory Function Tests; Lung; Asthma; Spirometry; Forced Expiratory Volume
PubMed: 37261706
DOI: 10.1007/s12098-023-04588-8 -
Journal of Bone and Mineral Research :... Sep 2023Osteoporotic vertebral fracture (OVF) is a risk factor for morbidity and mortality in elderly population, and accurate diagnosis is important for improving treatment...
Osteoporotic vertebral fracture (OVF) is a risk factor for morbidity and mortality in elderly population, and accurate diagnosis is important for improving treatment outcomes. OVF diagnosis suffers from high misdiagnosis and underdiagnosis rates, as well as high workload. Deep learning methods applied to plain radiographs, a simple, fast, and inexpensive examination, might solve this problem. We developed and validated a deep-learning-based vertebral fracture diagnostic system using area loss ratio, which assisted a multitasking network to perform skeletal position detection and segmentation and identify and grade vertebral fractures. As the training set and internal validation set, we used 11,397 plain radiographs from six community centers in Shanghai. For the external validation set, 1276 participants were recruited from the outpatient clinic of the Shanghai Sixth People's Hospital (1276 plain radiographs). Radiologists performed all X-ray images and used the Genant semiquantitative tool for fracture diagnosis and grading as the ground truth data. Accuracy, sensitivity, specificity, positive predictive value, and negative predictive value were used to evaluate diagnostic performance. The AI_OVF_SH system demonstrated high accuracy and computational speed in skeletal position detection and segmentation. In the internal validation set, the accuracy, sensitivity, and specificity with the AI_OVF_SH model were 97.41%, 84.08%, and 97.25%, respectively, for all fractures. The sensitivity and specificity for moderate fractures were 88.55% and 99.74%, respectively, and for severe fractures, they were 92.30% and 99.92%. In the external validation set, the accuracy, sensitivity, and specificity for all fractures were 96.85%, 83.35%, and 94.70%, respectively. For moderate fractures, the sensitivity and specificity were 85.61% and 99.85%, respectively, and 93.46% and 99.92% for severe fractures. Therefore, the AI_OVF_SH system is an efficient tool to assist radiologists and clinicians to improve the diagnosing of vertebral fractures. © 2023 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).
Topics: Aged; Humans; Spinal Fractures; Artificial Intelligence; China; Osteoporotic Fractures; Spine
PubMed: 37449775
DOI: 10.1002/jbmr.4879 -
Journal of Medical Ultrasonics (2001) Jul 2023The standard diagnostic modalities for gastrointestinal (GI) diseases have long been endoscopy and barium enema. Recently, trans-sectional imaging modalities, such as... (Review)
Review
The standard diagnostic modalities for gastrointestinal (GI) diseases have long been endoscopy and barium enema. Recently, trans-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, have become increasingly utilized in daily practice. In transabdominal ultrasonography (US), the bowel sometimes interferes with the observation of abdominal organs. Additionally, the thin intestinal walls and internal gas can make structures difficult to identify. However, under optimal US equipment settings, with identification of the sonoanatomy and knowledge of the US findings of GI diseases, US can be used effectively to diagnose GI disorders. Thus, the efficacy of GIUS has been gradually recognized, and GIUS guidelines have been published by the World Federation for Ultrasound in Medicine and Biology and the European Federation of Societies for Ultrasound in Medicine and Biology. Following a systematic scanning method according to the sonoanatomy and precisely estimating the layered wall structures by employing color Doppler make diagnosing disease and evaluating the degree of inflammation possible. This review describes current GIUS practices from an equipment perspective, a procedure for systematic scanning, typical findings of the normal GI tract, and 10 diagnostic items in an attempt to help medical practitioners effectively perform GIUS and promote the use of GIUS globally.
Topics: Humans; Ultrasonography; Gastrointestinal Diseases; Tomography, X-Ray Computed; Magnetic Resonance Imaging
PubMed: 36087155
DOI: 10.1007/s10396-022-01236-0 -
Nature Medicine May 2024Cardiac magnetic resonance imaging (CMR) is the gold standard for cardiac function assessment and plays a crucial role in diagnosing cardiovascular disease (CVD)....
Cardiac magnetic resonance imaging (CMR) is the gold standard for cardiac function assessment and plays a crucial role in diagnosing cardiovascular disease (CVD). However, its widespread application has been limited by the heavy resource burden of CMR interpretation. Here, to address this challenge, we developed and validated computerized CMR interpretation for screening and diagnosis of 11 types of CVD in 9,719 patients. We propose a two-stage paradigm consisting of noninvasive cine-based CVD screening followed by cine and late gadolinium enhancement-based diagnosis. The screening and diagnostic models achieved high performance (area under the curve of 0.988 ± 0.3% and 0.991 ± 0.0%, respectively) in both internal and external datasets. Furthermore, the diagnostic model outperformed cardiologists in diagnosing pulmonary arterial hypertension, demonstrating the ability of artificial intelligence-enabled CMR to detect previously unidentified CMR features. This proof-of-concept study holds the potential to substantially advance the efficiency and scalability of CMR interpretation, thereby improving CVD screening and diagnosis.
Topics: Humans; Cardiovascular Diseases; Artificial Intelligence; Female; Male; Middle Aged; Magnetic Resonance Imaging; Magnetic Resonance Imaging, Cine; Mass Screening; Aged; Adult
PubMed: 38740996
DOI: 10.1038/s41591-024-02971-2 -
European Journal of Ophthalmology Sep 2023Plasma cell dyscrasias are a wide range of severe monoclonal gammopathies caused by pre-malignant or malignant plasma cells that over-secrete an abnormal monoclonal... (Review)
Review
Plasma cell dyscrasias are a wide range of severe monoclonal gammopathies caused by pre-malignant or malignant plasma cells that over-secrete an abnormal monoclonal antibody. These disorders are associated with various systemic findings, including ophthalmological disorders. A search of PubMed, EMBASE, Scopus and Cochrane databases was performed in March 2021 to examine evidence pertaining to ocular complications in patients diagnosed with plasma cell dyscrasias. This review outlines the ocular complications associated with smoldering multiple myeloma and monoclonal gammopathy of undetermined significance, plasmacytomas, multiple myeloma, Waldenström's macroglobulinemia, systemic amyloidosis, Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes (POEMS) syndrome, and cryoglobulinemia. Although, the pathological mechanisms are not completely elucidated yet, wide-ranging ocular presentations have been identified over the years, evolving both the anterior and posterior segments of the eye. Moreover, the presenting symptoms also help in early diagnosis in asymptomatic patients. Therefore, it is imperative for the treating ophthalmologist and oncologist to maintain a high clinical suspicion for identifying the ophthalmological signs and diagnosing the underlying disease, preventing its progression through efficacious treatment strategies.
Topics: Humans; Paraproteinemias; Eye; Eye Diseases; Treatment Outcome
PubMed: 36760117
DOI: 10.1177/11206721231155974 -
Indian Journal of Ophthalmology Nov 2023Pediatric ocular examinations are often a challenge in the outpatient setting due to limited cooperation of the child. Hence an evaluation under anesthesia (EUA) or...
Pediatric ocular examinations are often a challenge in the outpatient setting due to limited cooperation of the child. Hence an evaluation under anesthesia (EUA) or sedation is important for a holistic ophthalmic examination. It can be combined with short procedures, such as suture removal and corneal scrappings, both for diagnosis and for the management of several ophthalmic disorders. It can also be performed before planning a surgical intervention to record the baseline characters and formulate or refine a surgical plan. Every EUA must be used as a chance to perform a complete ophthalmic examination rather than perform a single task such as recording the intraocular pressure. This article aims to provide a protocol that can be followed for a complete EUA.
Topics: Child; Humans; Glaucoma; Intraocular Pressure; Tonometry, Ocular; Physical Examination; Anesthesia
PubMed: 37870002
DOI: 10.4103/IJO.IJO_3259_22 -
Journal of Nippon Medical School =... Sep 2023Endoscopic retrograde cholangiopancreatography (ERCP) is essential for diagnosing and treating biliopancreatic disease. Because ERCP-related perforation can result in...
BACKGROUND
Endoscopic retrograde cholangiopancreatography (ERCP) is essential for diagnosing and treating biliopancreatic disease. Because ERCP-related perforation can result in death, therapeutic decisions are important. The aim of this study was to determine the cause of ERCP-related perforation and suggest appropriate management.
METHODS
Between January 1999 and August 2022, 7,896 ERCPs were performed in our hospital. We experienced 15 cases (0.18%) of ERCP-related perforation and conducted a retrospective review.
RESULTS
Of the 15 patients, 6 were female and 9 were male, and the mean age was 77.1 years. According to Stapfer's classification, the 15 cases of ERCP-related perforation comprised 3 type I (duodenum), 3 type II (periampullary), 9 type III (distal bile duct or pancreatic duct), and no type IV cases. Fourteen of 15 (92.6%) were diagnosed during ERCP. The main cause of perforation was scope-induced damage, endoscopic sphincterotomy, and instrumentation penetration in type I, II, and III cases, respectively. Four patients with severe abdominal pain and extraluminal fluid collection underwent emergency surgery for repair and drainage. One type III patient with distal bile duct cancer underwent pancreaticoduodenectomy on day 6. Three type III patients with only retroperitoneal gas on computed tomography (CT) performed immediately after ERCP had no symptoms and needed no additional treatment. Seven of the 15 patents were treated by endoscopic nasobiliary drainage (n=5) or CT-guided drainage (n=2). There were no deaths, and all patients were discharged after treatment.
CONCLUSIONS
Early diagnosis and appropriate treatment are important in managing ERCP-related perforation.
Topics: Humans; Male; Female; Aged; Cholangiopancreatography, Endoscopic Retrograde; Retrospective Studies; Treatment Outcome; Early Detection of Cancer; Sphincterotomy, Endoscopic; Intestinal Perforation
PubMed: 37271549
DOI: 10.1272/jnms.JNMS.2023_90-305