Perceived misdiagnosis of psychiatric conditions in autistic adults.

Background: Many autistic people, particularly women, do not receive an autism diagnosis until adulthood, delaying their access to timely support and clinical care. One possible explanation is that autistic traits may initially be misinterpreted as symptoms of other psychiatric conditions, leading some individuals to experience misdiagnosis of other psychiatric conditions prior to their autism diagnosis. However, little is currently known about the frequency and nature of psychiatric misdiagnoses in autistic adults. Methods: Using data collected in the first half of 2019 from an ongoing longitudinal register of autistic adults in the Netherlands, this study explored the frequency of perceived psychiatric misdiagnoses before receiving an autism diagnosis. Gender differences were also explored. A sample of 1211 autistic adults (52.6% women, mean age 42.3 years), the majority of whom were Dutch and relatively highly educated, was evaluated. Findings: Results showed that 24.6% (n = 298) of participants reported at least one previous psychiatric diagnosis that was perceived as a misdiagnosis. Personality disorders were the most frequent perceived misdiagnoses, followed by anxiety disorders, mood disorders, chronic fatigue syndrome/burnout-related disorders, and attention-deficit/hyperactivity disorder. Autistic women (31.7%) reported perceived misdiagnoses more frequently than men (16.7%). Women were specifically more likely than men to report perceived misdiagnoses of personality disorders, anxiety disorders, and mood disorders. Women also reported prior psychiatric diagnoses more often in general (65.8% versus 34.2% in men). Within the group of individuals with a prior diagnosis, perceived misdiagnoses were equally likely for men and women. Interpretation: One in four autistic adults, and one in three autistic women, reported at least one psychiatric diagnosis, obtained prior to being diagnosed with autism, that was perceived as a misdiagnosis. Inaccurate diagnoses are linked to long diagnostic pathways and delayed recognition of autism. These findings highlight the need for improved training of mental health practitioners, in order to improve their awareness of the presentation of autism in adulthood and of the complex relationship between autism and co-occurring conditions. The current study constitutes a first step towards showing that autistic adults, and particularly women, may be at greater risk of experiencing misdiagnoses. Future studies based on larger, more representative samples are required, to replicate current findings and provide more reliable estimates of the overall frequency of misdiagnoses as well as the frequency of misdiagnoses for specific psychiatric conditions. Funding: This study was made possible by funding from the Netherlands Organisation for Health Research and Development (ZonMW), project number 60-63600-98-834.

Diagnostic delays in systemic vasculitides.

Systemic vasculitides are among the less common disorders encountered in routine rheumatology practice. The low incidence and heterogeneous presentation at onset can potentially lead to delayed diagnosis. Not recognizing these in the early phase may prove detrimental, as some vasculitis may progress to a catastrophic course with major morbidity or mortality. The causes of diagnostic delay may vary among different types of vasculitis and may also be disease-, patient-, or physician-related. Disease-related factors include the myriad presentations with diverse and non-specific symptoms, mimicking other conditions like infections. In addition, some forms have prolonged prodromal phases before evident organ damage. Limited awareness among healthcare professionals, particularly outside rheumatology, and a lack of readily available diagnostic tools contribute to missed diagnoses. Delays in seeking care due to non-specific symptoms or lack of access to specialist care can worsen outcomes. The economic burden also increases with delayed diagnosis and damage accrual when the disease remains unrecognized or untreated for prolonged periods. Although the causes of vasculitis are numerous, including secondary causes, in this review, we focus on diagnostic delays in primary vasculitides and suggest potential steps to identify and treat these diseases early. These include educating both healthcare professionals and the public about the signs and symptoms of vasculitis; expanding the rheumatology workforce and facilitating timely referrals; implementing readily available and reliable tests for early detection; and streamlining care and diagnostic pathways. Such measures have the potential to improve the overall outcomes of the disease, with prolonged remission, minimal damage accrual, and improved quality of life.

Acute patients discharged without an established diagnosis: risk of mortality and readmission of nonspecific diagnoses compared to disease-specific diagnoses.

BACKGROUND: Nonspecific discharge diagnoses after acute hospital courses represent patients discharged without an established cause of their complaints. These patients should have a low risk of adverse outcomes as serious conditions should have been ruled out. We aimed to investigate the mortality and readmissions following nonspecific discharge diagnoses compared to disease-specific diagnoses and assessed different nonspecific subgroups. METHODS: Register-based cohort study including hospital courses beginning in emergency departments across 3 regions of Denmark during March 2019-February 2020. We identified nonspecific diagnoses from the R- and Z03-chapter in the ICD-10 classification and excluded injuries, among others-remaining diagnoses were considered disease-specific. Outcomes were 30-day mortality and readmission, the groups were compared by Cox regression hazard ratios (HR), unadjusted and adjusted for socioeconomics, comorbidity, administrative information and laboratory results. We stratified into short (3-<12 h) or lengthier (12-168 h) hospital courses. RESULTS: We included 192,185 hospital courses where nonspecific discharge diagnoses accounted for 50.7% of short and 25.9% of lengthier discharges. The cumulative risk of mortality for nonspecific vs. disease-specific discharge diagnoses was 0.6% (0.6-0.7%) vs. 0.8% (0.7-0.9%) after short and 1.6% (1.5-1.7%) vs. 2.6% (2.5-2.7%) after lengthier courses with adjusted HRs of 0.97 (0.83-1.13) and 0.94 (0.85-1.05), respectively. The cumulative risk of readmission for nonspecific vs. disease-specific discharge diagnoses was 7.3% (7.1-7.5%) vs. 8.4% (8.2-8.6%) after short and 11.1% (10.8-11.5%) vs. 13.7% (13.4-13.9%) after lengthier courses with adjusted HRs of 0.94 (0.90-0.98) and 0.95 (0.91-0.99), respectively. We identified 50 clinical subgroups of nonspecific diagnoses, of which Abdominal pain (n = 12,462; 17.1%) and Chest pain (n = 9,599; 13.1%) were the most frequent. The subgroups described differences in characteristics with mean age 41.9 to 80.8 years and mean length of stay 7.1 to 59.5 h, and outcomes with < 0.2-8.1% risk of 30-day mortality and 3.5-22.6% risk of 30-day readmission. CONCLUSIONS: In unadjusted analyses, nonspecific diagnoses had a lower risk of mortality and readmission than disease-specific diagnoses but had a similar risk after adjustments. We identified 509 clinical subgroups of nonspecific diagnoses with vastly different characteristics and prognosis.

Autosomal dominant polycystic kidney disease and pericardial effusion: coincidence? I think not! Case report and review of the literature.

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary disease causing chronic renal failure, with a high incidence of extra-renal manifestations including pericardial effusion. Case summary: We present the case of a 41-year-old female, known for ADPKD, who presented to our emergency department with epigastric pain radiating to the interscapular area. Blood exams showed moderate increase in inflammatory markers. Echocardiography revealed a circumferential pericardial effusion of 10 mm. She was put under treatment with colchicine therapy (1 mg b.i.d.) based on a presumptive diagnosis of acute pericarditis with pericardial effusion. She was hospitalized due to increase in pericardial effusion, underwent pericardial drainage, and started prednisone therapy with rapid recovery. We started a close follow-up on a monthly basis, with progressive decrease in pericardial effusion and progressive amelioration in symptoms, although the patient continued to report mild asthenia. Discussion: Pericardial effusion and ADPKD are conditions that both require an interdisciplinary discussion for optimal patient care that avoids neglecting pivotal symptoms and avoidable invasive examinations.

Evaluating ChatGPT-4's Diagnostic Accuracy: Impact of Visual Data Integration.

BACKGROUND: In the evolving field of health care, multimodal generative artificial intelligence (AI) systems, such as ChatGPT-4 with vision (ChatGPT-4V), represent a significant advancement, as they integrate visual data with text data. This integration has the potential to revolutionize clinical diagnostics by offering more comprehensive analysis capabilities. However, the impact on diagnostic accuracy of using image data to augment ChatGPT-4 remains unclear. OBJECTIVE: This study aims to assess the impact of adding image data on ChatGPT-4's diagnostic accuracy and provide insights into how image data integration can enhance the accuracy of multimodal AI in medical diagnostics. Specifically, this study endeavored to compare the diagnostic accuracy between ChatGPT-4V, which processed both text and image data, and its counterpart, ChatGPT-4, which only uses text data. METHODS: We identified a total of 557 case reports published in the American Journal of Case Reports from January 2022 to March 2023. After excluding cases that were nondiagnostic, pediatric, and lacking image data, we included 363 case descriptions with their final diagnoses and associated images. We compared the diagnostic accuracy of ChatGPT-4V and ChatGPT-4 without vision based on their ability to include the final diagnoses within differential diagnosis lists. Two independent physicians evaluated their accuracy, with a third resolving any discrepancies, ensuring a rigorous and objective analysis. RESULTS: The integration of image data into ChatGPT-4V did not significantly enhance diagnostic accuracy, showing that final diagnoses were included in the top 10 differential diagnosis lists at a rate of 85.1% (n=309), comparable to the rate of 87.9% (n=319) for the text-only version (P=.33). Notably, ChatGPT-4V's performance in correctly identifying the top diagnosis was inferior, at 44.4% (n=161), compared with 55.9% (n=203) for the text-only version (P=.002, χ2 test). Additionally, ChatGPT-4's self-reports showed that image data accounted for 30% of the weight in developing the differential diagnosis lists in more than half of cases. CONCLUSIONS: Our findings reveal that currently, ChatGPT-4V predominantly relies on textual data, limiting its ability to fully use the diagnostic potential of visual information. This study underscores the need for further development of multimodal generative AI systems to effectively integrate and use clinical image data. Enhancing the diagnostic performance of such AI systems through improved multimodal data integration could significantly benefit patient care by providing more accurate and comprehensive diagnostic insights. Future research should focus on overcoming these limitations, paving the way for the practical application of advanced AI in medicine.

An ingestible near-infrared fluorescence capsule endoscopy for specific gastrointestinal diagnoses.

Early diagnosis of gastrointestinal (GI) diseases is important to effectively prevent carcinogenesis. Capsule endoscopy (CE) can address the pain caused by wired endoscopy in GI diagnosis. However, existing CE approaches have difficulty effectively diagnosing lesions that do not exhibit obvious morphological changes. In addition, the current CE cannot achieve wireless energy supply and attitude control at the same time. Here, we successfully developed a novel near-infrared fluorescence capsule endoscopy (NIFCE) that can stimulate and capture near-infrared (NIR) fluorescence images to specifically identify subtle mucosal microlesions and submucosal lesions while capturing conventional white light (WL) images to detect lesions with significant morphological changes. Furthermore, we constructed the first synergetic system that simultaneously enables multi-attitude control in NIFCE and supplies long-term power, thus addressing the issue of excessive power consumption caused by the NIFCE emitting near-infrared light (NIRL). We performed in vivo experiments to verify that the NIFCE can specifically "light up" tumors while sparing normal tissues by synergizing with probes actively aggregated in tumors, thus realizing specific detection and penetration. The prototype NIFCE system represents a significant step forward in the field of CE and shows great potential in efficiently achieving early targeted diagnosis of various GI diseases.

Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods.

BACKGROUND: Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings. In recent years, advancements in next-generation sequencing, including whole-exome sequencing, have led to the incidental identification of dual diagnoses in patients. Herein we present the cases of five pediatric patients diagnosed with dual rare genetic diseases. Their natural history and diagnostic process were explored, and lessons learned from utilizing next-generation diagnostic technologies have been reported. RESULTS: Five pediatric cases (3 boys, 2 girls) with dual diagnoses were reported. The age at diagnosis was from 3 months to 10 years. The main clinical presentations were psychomotor retardation and increased muscular tension, some accompanied with liver dysfunction, abnormal appearance, precocious puberty, dorsiflexion restriction and varus of both feet, etc. After whole-exome sequencing, nine diseases were confirmed in these patients: Angelman syndrome and Krabbe disease in case 1, Citrin deficiency and Kabuki syndrome in case 2, Homocysteinemia type 2 and Copy number variant in case 3, Isolated methylmalonic acidemia and Niemann-Pick disease type B in case 4, Isolated methylmalonic acidemia and 21-hydroxylase deficiency in case 5. Fifteen gene mutations and 2 CNVs were identified. Four novel mutations were observed, including c.15292de1A in KMT2D, c.159_164inv and c.1427G > A in SLC25A13, and c.591 C > G in MTHFR. CONCLUSIONS: Our findings underscore the importance of clinicians being vigilant about the significance of historical and physical examination. Comprehensive clinical experience is crucial for identifying atypical clinical features, particularly in cases involving dual rare genetic diseases.

Four-year follow-up of psychiatric and psychosomatic profile in patients with Inflammatory Bowel Disease (IBD).

Psychological characterization of patients affected by Inflammatory Bowel Disease (IBD) focuses on comorbidity with psychiatric disorders, somatization or alexithymia. Whereas IBD patients had higher risk of stable anxiety and depression for many years after the diagnosis of the disease, there is a lack of studies reporting a comprehensive psychosomatic assessment addressing factors of disease vulnerability, also in the long-term. The objective of this investigation is to fill this gap in the current literature. The aims were thus to assess: a) changes between baseline and a 4-year follow-up in psychiatric diagnoses (SCID), psychosomatic syndromes (DCPR), psychological well-being (PWB-I), lifestyle, gastrointestinal symptoms related to IBD and Irritable Bowel Syndrome (IBS)-like symptoms b) stability of psychiatric and psychosomatic syndromes at 4-year follow-up. A total of 111 IBD outpatients were enrolled; 59.5% of them participated at the follow-up. A comprehensive assessment, including both interviews and self-report questionnaires, was provided at baseline and follow-up. Results showed increased psychiatric diagnoses, physical activity, consumption of vegetables and IBS-like symptoms at follow-up. Additionally, whereas psychiatric diagnoses were no longer present and new psychopathological pictures ensued at follow-up, more than half of the sample maintained psychosomatic syndromes (particularly allostatic overload, type A behavior, demoralization) from baseline to follow-up. Long-term presence/persistence of such psychosocial burden indicates the need for integrating a comprehensive psychosomatic evaluation beyond traditional psychiatric nosography in IBD patients. Moreover, since psychosomatic syndromes represent vulnerability factors of diseases, further studies should target subgroups of patients presenting with persistent psychosomatic syndromes and worse course of the disease.

Psychiatric diagnoses, somatic disorders, and emergency dispatches among individuals who used a national suicide crisis line.

Crisis line responders initiate emergency dispatches by activating 911 or other local emergency services when individuals are determined to be at imminent risk for undesired outcomes. This study examined the association of characteristics, psychiatric diagnoses, and somatic symptoms with emergency dispatches in a national sample. Veterans Crisis Line data were used to identify contacts (i.e., calls, texts, chats, emails) that were linked with medical records and had a medical encounter in the year prior to contact. Hierarchical logistic regression clustered by responders was used to identify the association among demographics, psychiatric diagnoses, and somatic disorders, and emergency dispatches. Analyses examined 247,340 contacts from 2017 to 2020, with 27,005 (10.9%) emergency dispatches. Odds of an emergency dispatch increased with each diagnosis (three diagnoses Adjusted Odds Ratio [AOR] (95% CI) = 1.88 [1.81,1.95]). Odds were highest among individuals with substance use disorders (SUD) (alcohol AOR (95% CI) = 1.85 [1.80,1.91]; drugs AOR (95% CI) = 1.63 [1.58, 1.68]), which may be a result of intoxication or overdose during contact, requiring further research. Having more psychiatric and somatic conditions was associated with greater odds of an emergency dispatch, indicating that comorbidity contributed to the need for acute care.

Subacute Thyroiditis Masquerading as Fever of Unknown Origin.

Subacute thyroiditis (SAT) is an inflammatory disease of the thyroid gland. It can present with overlapping features of other etiology of thyroiditis. It can present with thyroid enlargement and systemic symptoms such as fever as well as neck pain and may be confused with infectious thyroiditis. It can be difficult to diagnose and present as fever of unknown origin (FUO). A good history, physical examination, laboratory investigation, as well as imaging may aid in the correct diagnosis and prevent the inappropriate use of antibiotics. Treatment is usually with nonsteroidal anti-inflammatory drugs (NSAIDs) as well as corticosteroids. We herein present a case of SAT presenting as FUO. We highlighted the importance of proper clinical evaluation, the importance of thyroid imaging, and how to differentiate other forms of thyroiditis.

Spatio-temporal patterns of tick-borne disease diagnoses in Indiana, USA (2009-2018).

AIMS: Although tick-borne disease (TBD) incidence has increased in the United States (U.S.) in the past decade, new evidence suggests that notifiable diseases surveillance records may not accurately reflect the true magnitude of TBD diagnoses. Furthermore, while regional electronic health records (EHR) are readily accessible their potential use as a more stable and consistent source of TBD diagnoses data has remained largely unexplored. METHODS AND RESULTS: In this study, we used EHR from a database of more than 100 hospitals, healthcare networks, and insurance providers in Indiana, U.S., to better understand incidence, spatio-temporal and demographic distribution of TBD Diagnoses from 2009-2018. Our results revealed that in Indiana, from 2009 to 2018, there were 5173 unique TBD Diagnoses across three diagnoses categories: Lyme disease (72.5%, n = 3751), Rickettsioses (12.0%, n = 623) and Other TBD Diagnoses (15.4%, n = 799). Using EHR, the average yearly Lyme disease diagnoses was more than double the cases obtained using notifiable disease surveillance data for the same period. Patients with a TBD Diagnoses were generally older (ages 45-59) and less racially diverse (96.3% white). Rickettsiosis diagnoses were reported more among male patients (55.2%), while Lyme disease diagnoses were higher among female patients (57.1%). Temporal data illustrated higher frequencies of diagnoses from May to July. Hot spot analysis identified a Lyme disease hot spot in northwest Indiana, while hotspots of Rickettsiosis and Other TBD Diagnoses category were identified in southwest Indiana. Extrapolated to the Indiana population, chi-squared (χ2) tests of independence revealed that the observed distribution of TBD diagnoses in our data was significantly different from the expected distribution in the Indiana population-based race, gender and age groups. CONCLUSIONS: Our study findings demonstrate that in Indiana, EHR provide a stable data source for elucidating TBD disease burden and for monitoring spatio-temporal trends in TBD diagnoses.

Mental Health Diagnoses on the Mini International Psychiatric Interview Are Associated With Higher Scores on the Edinburgh Postnatal Depression Scale.

OBJECTIVE: To understand if Mini International Psychiatric Interview (MINI) scores in pregnancy are associated with higher scores on the Edinburgh Postnatal Depression Scale (EPDS). DESIGN: Cross-sectional pilot study of participants who completed the EPDS during pregnancy and were then invited to complete the MINI. SETTING/LOCAL PROBLEM: An urban outpatient clinic at an academic medical setting from November 2020 to June 2021. PARTICIPANTS: Convenience sample of 20 pregnant people. INTERVENTION/MEASUREMENTS: Analysis of variance was used to examine differences based on EPDS scores and MINI symptom burden. Nonparametric tests (Mann-Whitney U or Kruskal-Wallis test) were used if assumptions were violated. Descriptive statistics were used to describe sample characteristics. RESULTS: Nine participants screened 9 or higher on the EPDS and completed the MINI. There were no significant differences in demographic variables by EPDS score. There were significant differences between demographic variables, including employment status (p = .003) and type of health insurance (p = .019), between participants who met criteria for at least one diagnosis on the MINI and those who did not. Participants with public health insurance met the criteria for four more diagnoses compared to people with private insurance. Participants not employed full-time had nearly five more diagnoses compared to those employed full-time. Higher EPDS scores were correlated with all measured MINI symptoms or diagnoses. Higher EPDS scores were significantly correlated with and showed a moderate to strong positive correlation to suicidality and antisocial personality disorder. CONCLUSION: Pregnant individuals who score 9 or higher on the EPDS may also have other severe mental health diagnoses. Recognizing perinatal mood and anxiety disorders in this population can inform the development of screening protocols and interventions during pregnancy to improve maternal access to mental health treatment and symptom reduction.

The Importance of Differential Diagnosis in Splenogonadal Fusion: A Case Report.

Splenogonadal fusion is a rare, benign congenital malformation characterized by the association of splenic tissue and gonads (typically testicles). It is a condition of male predominance and can be classified into two types: continuous, if the spleen and gonad are united by a splenic cord or fibrous tissue, or discontinuous. Splenogonadal fusion is often associated with other congenital anomalies such as cryptorchidism, limb defects, and micrognathia. Differential diagnosis can be difficult and includes inguinal hernia, spermatic cord cyst, cryptorchidism, or testicular mass. Due to little knowledge of the pathology, unnecessary orchidectomies are often performed. A previously healthy five-year-old boy was sent to a pediatric surgery appointment due to testicular asymmetry. The physical examination showed a painless, nodular mass adhering to the upper pole of the left testicle, without any palpable inguinal masses. Tumor markers were negative, and a testicular ultrasound with Doppler revealed a mass suggestive of an accessory testicle. Left inguinal surgical exploration revealed the presence of a mass joined by fibrous tissue to the upper pole of the testicle, but no connection to the native spleen was found. Total excision was performed with the testicle's preservation. The anatomopathological analysis revealed morphological aspects compatible with splenic tissue with normal characteristics. The diagnosis of splenogonadal fusion is rare and complex, requires several differential diagnoses, and is often made intraoperatively.The prognosis is excellent as long as there are no associated malformations. A high level of suspicion for this pathology, with recognition of the anatomical structures, can avoid unnecessary orchidectomy.

Opioid Use Disorder: A Qualitative Exploratory Analysis of Potential Misunderstandings in Patients with Chronic Non-Cancer Pain.

Purpose: Substance use disorders (SUD) are a challenging comorbidity in patients with chronic non-cancer pain (CNCP) as they complicate diagnosis and therapy, especially when opioids are part of the therapeutic regimen. A definite diagnosis of opioid use disorder (OUD) in patients with CNCP on long-term opioid therapy (LTOT) is a prerequisite for effective and targeted therapy but may be complicated as some criteria of OUD might be attributed to the desire of the patient to relieve the pain. For instance, the desire to increase the dose can be based on both a SUD as well as inadequate pain therapy. Many scientific studies use standardized questions. Therefore, potential misunderstandings due to possible diagnostic overlaps often cannot be clarified. Methods: 14 qualitative guided interviews were conducted and analyzed (Kuckartz content analysis), with the intention to verify if patient's initial response to simple questions based on the wording of the DSM-5, as commonly used in research and practice, were consistent with the results of a more in-depth inquiry. Results: The results suggest that without in-depth investigation, there is a particular risk of false-positive assessment of the DSM-5 criteria for OUD when opioids are prescribed, especially when the questions are considered independently of chronic pain. The risk of a false-negative assessment has also been shown in isolated cases. Conclusion: Only after asking for and describing specific situations it was possible to determine whether the patient's positive or negative answers were based on a misunderstanding of the question. To avoid misdiagnosis, staff conducting DSM-5 interviews should be trained in pain-specific follow-up questions that may help to uncover diagnostic confounding.

Development of a Clinical Simulation Video to Evaluate Multiple Domains of Clinical Competence: Cross-Sectional Study.

BACKGROUND: Medical students in Japan undergo a 2-year postgraduate residency program to acquire clinical knowledge and general medical skills. The General Medicine In-Training Examination (GM-ITE) assesses postgraduate residents' clinical knowledge. A clinical simulation video (CSV) may assess learners' interpersonal abilities. OBJECTIVE: This study aimed to evaluate the relationship between GM-ITE scores and resident physicians' diagnostic skills by having them watch a CSV and to explore resident physicians' perceptions of the CSV's realism, educational value, and impact on their motivation to learn. METHODS: The participants included 56 postgraduate medical residents who took the GM-ITE between January 21 and January 28, 2021; watched the CSV; and then provided a diagnosis. The CSV and GM-ITE scores were compared, and the validity of the simulations was examined using discrimination indices, wherein ≥0.20 indicated high discriminatory power and >0.40 indicated a very good measure of the subject's qualifications. Additionally, we administered an anonymous questionnaire to ascertain participants' views on the realism and educational value of the CSV and its impact on their motivation to learn. RESULTS: Of the 56 participants, 6 (11%) provided the correct diagnosis, and all were from the second postgraduate year. All domains indicated high discriminatory power. The (anonymous) follow-up responses indicated that the CSV format was more suitable than the conventional GM-ITE for assessing clinical competence. The anonymous survey revealed that 12 (52%) participants found the CSV format more suitable than the GM-ITE for assessing clinical competence, 18 (78%) affirmed the realism of the video simulation, and 17 (74%) indicated that the experience increased their motivation to learn. CONCLUSIONS: The findings indicated that CSV modules simulating real-world clinical examinations were successful in assessing examinees' clinical competence across multiple domains. The study demonstrated that the CSV not only augmented the assessment of diagnostic skills but also positively impacted learners' motivation, suggesting a multifaceted role for simulation in medical education.

Impact of three variants of prolonged exposure therapy on comorbid diagnoses in patients with childhood abuse-related PTSD.

Recent studies indicated that Prolonged Exposure (PE) is safe and effective for posttraumatic stress disorder (PTSD). It is unclear whether PE also leads to a reduction in comorbid diagnoses. Data from a large randomized controlled trial (N = 149) on the effects of three variants of PE for PTSD were used. We examined the treatment effects on co-morbid diagnoses of depressive, anxiety, obsessive compulsive, substance abuse, psychotic, eating and personality disorders in a sample of patients with PTSD related to childhood abuse. Outcomes were assessed with clinical interviews at baseline, post-treatment and at 6- and 12-month follow-up. All variants of PE led to a decrease from baseline to post-treatment in diagnoses of depressive, anxiety, substance use and personality disorders. Improvements were sustained during follow-up. We found an additional decrease in the number of patients that fulfilled the diagnostic criteria of a depressive disorder between 6- and 12-month follow-up. No significant changes were observed for the presence of OCD, psychotic and eating disorders. Findings suggest that it is effective to treat PTSD related to childhood abuse with trauma-focused treatments since our 14-to-16 weeks PE for PTSD resulted in reductions in comorbid diagnoses of depressive, anxiety, substance use and personality disorders.

Structural Discrimination against and Structural Support for Lesbian, Gay, and Bisexual People as a Predictor of Late HIV Diagnoses among Black Men who Have Sex with Men.

Black men who have sex with men (MSM) have been consistently reported to have the highest estimated HIV incidence and prevalence among MSM. Despite broad theoretical understanding that discrimination is a major social and structural determinant that contributes to disparate HIV outcomes among Black MSM, relatively little extant research has empirically examined structural discrimination against sexual minorities as a predictor of HIV outcomes among this population. The present study therefore examines whether variation in policies that explicitly discriminate against lesbian, gay, and bisexual (LGB) people and variation in policies that explicitly protect LGB people differentially predict metropolitan statistical-area-level variation in late HIV diagnoses among Black MSM over time, from 2008 to 2014. HIV surveillance data on late HIV diagnoses among Black MSM in each of the 95 largest metropolitan statistical areas in the United States, from 2008 to 2014, were used along with data on time-varying state-level policies pertaining to the rights of LGB people. Results from multilevel models found a negative relationship between protective/supportive laws and late HIV diagnoses among Black MSM, and a positive relationship between discriminative laws and late HIV diagnoses among Black MSM. These findings illuminate the potential epidemiological importance of policies pertaining to LGB populations as structural determinants of HIV outcomes among Black MSM. They suggest a need for scrutiny and elimination of discriminatory policies, where such policies are currently in place, and for advocacy for policies that explicitly protect the rights of LGB people where they do not currently exist.

3q29 duplications: A cohort of 46 patients and a literature review.

Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). They have been associated with highly variable neurodevelopmental disorders (NDDs) with various associated features or reported as a susceptibility factor to the development of learning disabilities and neuropsychiatric disorders. The smallest region of overlap and the phenotype of 3q29 duplications remain uncertain. We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including 14 recurrent 1.6 Mb duplications, eight overlapping duplications (>1 Mb), and nine small duplications (<1 Mb). Additional genetic findings that may be involved in the phenotype were identified in 11 patients. Focusing on apparently isolated 3q29 duplications, patients present mainly mild NDD as suggested by a high rate of learning disabilities in contrast to a low proportion of patients with intellectual disabilities. Although some are de novo, most of the 3q29 duplications are inherited from a parent with a similar mild phenotype. Besides, the study of small 3q29 duplications does not provide evidence for any critical region. Our data suggest that the overlapping and recurrent 3q29 duplications seem to lead to mild NDD and that a severe or syndromic clinical presentation should warrant further genetic analyses.

Direct-to-Patient Mobile Teledermoscopy: Prospective Observational Study.

Direct-to-patient mobile teledermoscopy is a feasible and useful adjunct to smartphone imaging for monitoring patient-identified lesions of concern, achieving comparable diagnostic and management accuracy as in-office dermatology.

Diseases diagnosis based on artificial intelligence and ensemble classification.

BACKGROUND: In recent years, Computer Aided Diagnosis (CAD) has become an important research area that attracted a lot of researchers. In medical diagnostic systems, several attempts have been made to build and enhance CAD applications to avoid errors that can cause dangerously misleading medical treatments. The most exciting opportunity for promoting the performance of CAD system can be accomplished by integrating Artificial Intelligence (AI) in medicine. This allows the effective automation of traditional manual workflow, which is slow, inaccurate and affected by human errors. AIMS: This paper aims to provide a complete Computer Aided Disease Diagnosis (CAD2) strategy based on Machine Learning (ML) techniques that can help clinicians to make better medical decisions. METHODS: The proposed CAD2 consists of three main sequential phases, namely; (i) Outlier Rejection Phase (ORP), (ii) Feature Selection Phase (FSP), and (iii) Classification Phase (CP). ORP is implemented to reject outliers using new Outlier Rejection Technique (ORT) that contains two sequential stages called Fast Outlier Rejection (FOR) and Accurate Outlier Rejection (AOR). The most informative features are selected through FSP using Hybrid Selection Technique (HST). HST includes two main stages called Quick Selection Stage (QS2) using fisher score as a filter method and Precise Selection Stage (PS2) using a Hybrid Bio-inspired Optimization (HBO) technique as a wrapper method. Finally, actual diagnose takes place through CP, which relies on Ensemble Classification Technique (ECT). RESULTS: The proposed CAD2 has been tested experimentally against recent disease diagnostic strategies using two different datasets in which the first contains several diseases, while the second includes data for Covid-19 patients only. Experimental results have proven the high efficiency of the proposed CAD2 in terms of accuracy, error, precision, and recall compared with other competitors. Additionally, CAD2 strategy provides the best Wilcoxon signed rank test and Friedman test measurements against other strategies according to both datasets. CONCLUSION: It is concluded that CAD2 strategy based on ORP, FSP, and CP gave an accurate diagnosis compared to other strategies because it gave the highest accuracy and the lowest error and implementation time.