BACKGROUND: Artificial intelligence (AI) symptom checker models should be trained using real-world patient data to improve their diagnostic accuracy. Given that AI-based symptom checkers are currently used in clinical practice, their performance should improve over time. However, longitudinal evaluations of the diagnostic accuracy of these symptom checkers are limited.
OBJECTIVE: This study aimed to assess the longitudinal changes in the accuracy of differential diagnosis lists created by an AI-based symptom checker used in the real world.
METHODS: This was a single-center, retrospective, observational study. Patients who visited an outpatient clinic without an appointment between May 1, 2019, and April 30, 2022, and who were admitted to a community hospital in Japan within 30 days of their index visit were considered eligible. We only included patients who underwent an AI-based symptom checkup at the index visit, and the diagnosis was finally confirmed during follow-up. Final diagnoses were categorized as common or uncommon, and all cases were categorized as typical or atypical. The primary outcome measure was the accuracy of the differential diagnosis list created by the AI-based symptom checker, defined as the final diagnosis in a list of 10 differential diagnoses created by the symptom checker. To assess the change in the symptom checker\'s diagnostic accuracy over 3 years, we used a chi-square test to compare the primary outcome over 3 periods: from May 1, 2019, to April 30, 2020 (first year); from May 1, 2020, to April 30, 2021 (second year); and from May 1, 2021, to April 30, 2022 (third year).
RESULTS: A total of 381 patients were included. Common diseases comprised 257 (67.5%) cases, and typical presentations were observed in 298 (78.2%) cases. Overall, the accuracy of the differential diagnosis list created by the AI-based symptom checker was 172 (45.1%), which did not differ across the 3 years (first year: 97/219, 44.3%; second year: 32/72, 44.4%; and third year: 43/90, 47.7%; P=.85). The accuracy of the differential diagnosis list created by the symptom checker was low in those with uncommon diseases (30/124, 24.2%) and atypical presentations (12/83, 14.5%). In the multivariate logistic regression model, common disease (P<.001; odds ratio 4.13, 95% CI 2.50-6.98) and typical presentation (P<.001; odds ratio 6.92, 95% CI 3.62-14.2) were significantly associated with the accuracy of the differential diagnosis list created by the symptom checker.
CONCLUSIONS: A 3-year longitudinal survey of the diagnostic accuracy of differential diagnosis lists developed by an AI-based symptom checker, which has been implemented in real-world clinical practice settings, showed no improvement over time. Uncommon diseases and atypical presentations were independently associated with a lower diagnostic accuracy. In the future, symptom checkers should be trained to recognize uncommon conditions.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease affecting various organs with a wide range of clinical manifestations. Cutaneous lupus erythematosus (CLE) can manifest as a feature of SLE or an independent skin ailment. Health-related quality of life (HRQoL) is frequently compromised in individuals living with lupus. Understanding patients\' perspectives when living with a disease is crucial for effectively meeting their unmet needs. Social listening is a promising new method that can provide insights into the experiences of patients living with their disease (lupus) and leverage these insights to inform drug development strategies for addressing their unmet needs.
OBJECTIVE: The objective of this study is to explore the experience of patients living with SLE and CLE, including their disease and treatment experiences, HRQoL, and unmet needs, as discussed in web-based social media platforms such as blogs and forums.
METHODS: A retrospective exploratory social listening study was conducted across 13 publicly available English-language social media platforms from October 2019 to January 2022. Data were processed using natural language processing and knowledge graph tagging technology to clean, format, anonymize, and annotate them algorithmically before feeding them to Pharos, a Semalytix proprietary data visualization and analysis platform, for further analysis. Pharos was used to generate descriptive data statistics, providing insights into the magnitude of individual patient experience variables, their differences in the magnitude of variables, and the associations between algorithmically tagged variables.
RESULTS: A total of 45,554 posts from 3834 individuals who were algorithmically identified as patients with lupus were included in this study. Among them, 1925 (authoring 5636 posts) and 106 (authoring 243 posts) patients were identified as having SLE and CLE, respectively. Patients frequently mentioned various symptoms in relation to SLE and CLE including pain, fatigue, and rashes; pain and fatigue were identified as the main drivers of HRQoL impairment. The most affected aspects of HRQoL included \"mobility,\" \"cognitive capabilities,\" \"recreation and leisure,\" and \"sleep and rest.\" Existing pharmacological interventions poorly managed the most burdensome symptoms of lupus. Conversely, nonpharmacological treatments, such as exercise and meditation, were frequently associated with HRQoL improvement.
CONCLUSIONS: Patients with lupus reported a complex interplay of symptoms and HRQoL aspects that negatively influenced one another. This study demonstrates that social listening is an effective method to gather insights into patients\' experiences, preferences, and unmet needs, which can be considered during the drug development process to develop effective therapies and improve disease management.

BACKGROUND: Penoscrotal transposition (PST) is an uncommon urogenital malformation in which the penis is mal-positioned to be inferior to the scrotum. The purpose of this study was to explore PST risk by maternal characteristics and to describe co-occurring congenital abnormalities in the Texas Birth Defects Registry (TBDR).
METHODS: We conducted a population-based descriptive study examining occurrence of PST in the TBDR between 1999 and 2019. The primary outcome variable was PST diagnosis during infancy. Descriptive variables included maternal age, education, and race/ethnicity. Prevalence ratios (PRs) were calculated within each maternal variable category using Poisson regression. Counts and percentages of cases with select co-occurring congenital abnormalities were also calculated.
RESULTS: Overall, 251 infants had PST, providing a prevalence of 0.61/10,000 live male births (95% CI: 0.53-0.68). PST prevalence was significantly lower among infants of mothers who had lower educational attainment (high school), who were younger (<25 vs. 25-34), and who were Hispanic (vs. non-Hispanic White) and was significantly higher among older mothers (35+ vs. 25-39). Hypospadias was the most common co-occurring genitourinary anomaly, affecting close to 70% of cases.
CONCLUSIONS: To our knowledge, this is the first investigation exploring the prevalence of PST in a population-based birth defects registry. Our findings help to understand the risk for PST among select maternal demographic characteristics and may assist in generating hypotheses about the underlying etiology of this condition for future work.

UNASSIGNED: The vertical liner fracture of the tibia is an infrequent and intricate injury that presents considerable difficulties in terms of its diagnosis, treatment, and long-term consequences. This particular fracture pattern is distinguished by a vertical line of fracture along the length of the tibial shaft, spanning from the proximal to the distal end.
METHODS: The 31-year-old female patient, who had no prior medical conditions, presented to the emergency department with complaints of intense pain and impaired ambulation in her right lower limb. She reported an accidental fall while descending a staircase, resulting in substantial impact and pressure on her right leg.
UNASSIGNED: While fractures of the tibia are frequently encountered, there exist exceptional instances of vertical liner fractures within this category. A vertical long liner fracture of the tibia denotes a distinct fracture type in the elongated bone of the lower limb, characterized by a vertical fracture line that extends along the length of the bone.
CONCLUSIONS: Vertical liner fractures of the tibia, although rare, are distinct from more common tibial fracture patterns. Accurate diagnosis and thorough evaluation using various imaging methods are crucial for assessing the extent of the fracture and any associated injuries.

Superior vena cava (SVC) thrombus is a rare but potentially life-threatening condition where a blood clot forms in the superior vena cava, the vein carrying blood from the head, neck, and upper extremities to the heart. The incidence of SVC thrombosis is higher in patients with certain underlying medical conditions, such as malignancy, heart failure, and chronic obstructive pulmonary disease. In this case study, a 36-year-old African American female with a history of essential hypertension, type 2 diabetes, end-stage renal disease, anemia of chronic disease, obstructive sleep apnea, obesity, and preeclampsia presented with sudden onset of confusion six days postpartum. The patient was admitted for further evaluation and treatment. Imaging tests showed an acute infarct in the left parietal lobe with no intracranial hemorrhage and an echo density/mass in the SVC consistent with a thrombus. Risk factors for SVC thrombus included pregnancy, a hypercoagulable state, and issues with catheter placement. The increasing use of intravascular devices such as indwelling catheters and pacemaker wires has been implicated in the rising incidence of SVC thrombus. Complete occlusion of the SVC is usually symptomatic and presents with a clinical picture similar to SVC syndrome. The importance of early detection and intervention was highlighted in this case, as the patient was initially asymptomatic after the onset of neurological symptoms. Treatment involved discontinuing heparin and starting the patient on Apixaban without a loading dose. This case study emphasizes the potential risk factors and complications associated with SVC thrombus and highlights the importance of early detection and intervention.

BACKGROUND: Mucosal melanoma is a rare but aggressive tumor associated with a poor prognosis arising from pigmented cells called melanocytes. They are usually asymptomatic and present in an advanced stage. It has an aggressive clinical outcome and is proven to be of poor prognosis.
METHODS: This is a retrospective review of the computer database and clinical records at the All India Institute of Medical Sciences, Rishikesh, India. The data between 2018-2022 were reviewed for all small biopsy or excision specimen-proven cases of oral mucosal melanoma.
RESULTS: The most common site of involvement in the head and neck region is the nasal cavity and paranasal sinuses. In this retrospective study from our institute, all three cases presented involved oral cavities. The median age of presentation was 51 years. Some literature specifies male preponderance. Our patients presented clinically with a black nodule in the oral cavity, which was increasing in size and associated with bleeding. A biopsy performed confirmed the diagnosis of melanoma based on the morphology and immunohistochemical profile of the tumor cells.
CONCLUSIONS: Surgical resection is the mainstay treatment, followed by radiation postoperatively to reduce local and regional recurrence. Mucosal melanoma has a poor prognosis, and the majority of patients develop incurable metastatic disease.

UNASSIGNED: Rare pathogenic variants in cardiomyopathy (CM) genes can predispose to cardiac remodeling or fibrosis. We studied the carrier status for such variants in adults without clinical cardiovascular disease (CVD) in whom cardiac MRI (CMR)-derived measures of myocardial fibrosis were obtained in the Multi-Ethnic Study of Atherosclerosis (MESA).
UNASSIGNED: To identify CM-associated pathogenic variants and assess their relative prevalence in participants with extensive myocardial fibrosis by CMR.
UNASSIGNED: MESA whole-genome sequencing data was evaluated to capture variants in CM-associated genes (n = 82). Coding variants with a frequency of <0.1% in gnomAD and 1,000 Genomes Project databases and damaging/deleterious effects based on in-silico scoring tools were assessed by ClinVar database and ACMG curation guidelines for evidence of pathogenicity. Cases were participants with high myocardial fibrosis defined as highest quartile of extracellular volume (ECV) or native T1 time in T1-mapping CMR and controls were the remainder of participants.
UNASSIGNED: A total of 1,135 MESA participants had available genetic data and phenotypic measures and were free of clinical CVD at the time of CMR. We identified 6,349 rare variants in CM-associated genes in the overall MESA population, of which six pathogenic/likely pathogenic (P/LP) variants were present in the phenotyped subpopulation. The genes harboring P/LP variants in the case group were MYH7, CRYAB, and SCN5A. The prevalence of P/LP rare variants in cases was higher than controls (5 in 420 [1.1%] vs. 1 in 715 [0.1%], p = 0.03). We identified two MYBPC3 Variants of Unknown Significance (VUS)s with borderline pathogenicity in the case group. The left ventricle (LV) volume, mass, ejection fraction (EF), and longitudinal and circumferential strain in participants with the variants were not different compared to the overall cohort.
UNASSIGNED: We observed a higher prevalence of rare potentially pathogenic CM associated genetic variants in participants with significant myocardial fibrosis quantified in CMR as compared to controls without significant fibrosis. No cardiac structural or functional differences were found between participants with or without P/LP variants.

Although Candida species remain the leading cause of invasive fungal infections (IFI), the list of other isolated fungal pathogens is increasing. The aim of the study was to report cases of IFI caused by rare yeasts in the largest tertiary Greek pediatric hospital. A retrospective study was performed from 6/2008-6/2020 regarding IFI caused by rare species. Identification of isolates was attained by conventional, molecular, and MALDI TOF MS methods, and susceptibility testing was performed according to the Clinical and Laboratory Standards (CLSI) methodology. During a 12-year period, 14 different rare fungal species in 33 neonates and children with IFI hospitalized in intensive care and oncology units were isolated from blood, central catheters, peritoneal, pleural, or pericardial fluid specimens. It is the first time for IFI caused by Wickerhamomyces anomalus (Candida pelliculosa), Pichia fermentans (Candida lambica), Yarrowia (Candida) lipolytica, Pichia (Hansenula) kluyveri, Rhodotorula mucilaginosa, Wickerhamiella (Candida) pararugosa and Cyberlindnera (Candida) fabianii in Greek neonates and children to be reported. For most of these rare fungal species isolated in the present study, no official antifungal breakpoints have been defined, and there are no guidelines for their treatment. Clinical laboratories should be aware of uncommon and emerging yeast pathogens and be able to detect them with molecular and proteomic methods.

UNASSIGNED: The aim of this study is to highlight the rarity of this disorder and its associated anomalies and our objective was to review our experience in the management of colonic atresia (CA) with respect to staged surgery versus one-step procedure for a better outcome of the disease.
UNASSIGNED: A randomized, controlled, single-center study conducted over a period of 4 years from October 2013 to 2017.
UNASSIGNED: Nine cases were operated for CA of which three underwent primary anastomosis and six underwent initial colostomy followed by definitive surgery. Age, sex, body weight, clinical presentation, type of atresia, site, time interval of operation, associated anomalies, initial procedure, postoperative complications, final procedure, biopsy, hospital stay, and outcome were noted.
UNASSIGNED: Microsoft Excel was used for statistical analysis.
UNASSIGNED: Out of 9 patients, 6 were males and 3 were females, 7 patients survived and 2 patients died (mortality 22.2%), of which one patient with primary anastomosis had leak and sepsis and one patient with primary anastomosis had associated Hirschsprung\'s disease (HD). Mean time gap for operation was 12.8 h and mean hospital stay was 3.5 days for initial colostomy and 21 days for primary anastomosis. Wound dehiscence occurred in 4 patients. Malrotation was found in 3 patients, HD in 2 patients, cardiac anomaly in 2, Meckel\'s diverticulum in 1, and cleft lip in 1 patient. Type IIIa atresia was found in in 6 patients, Type I in 2, and Type II in 1 patient. The most common site was transverse colon (n = 5).
UNASSIGNED: Diagnosis and management of CA is a challenge. Early presentation and diagnosis should be prompt. Staged procedure with initial colostomy followed by definitive procedure is the preferred choice. Associated anomaly HD must be ruled out.

Objective Intraductal papillary neoplasm of the bile duct (IPNB) has been increasingly recognized and reported. However, its clinical features are still controversial because of its low incidence. In the present study, we investigated the characteristics of IPNB. Methods In total, 28 patients with IPNB were treated at our institution from January 2000 to December 2016. Clinical data were collected and a retrospective accurate database was constructed. Demographic characteristics, perioperative management, and prognosis were retrospectively analyzed. Results Abdominal discomfort was the most common symptom. Preoperative imaging revealed biliary tract dilatation in 23 patients. Left lateral or left hepatic lobectomy was the most frequently performed surgical procedure. Histological analysis revealed malignancy in 17 patients. Eighty-eight lymph nodes were swept from the patients with malignant disease, but only three were metastatic. Twenty-one patients were followed up for 3 to 60 months (mean, 29.4 ± 18.2 months). Seven patients died during the follow-up period. Patients with benign tumors had significantly greater disease-free survival. Conclusions IPNB is a rare biliary disease that occurs mainly in patients of advanced age. The most common symptom is abdominal discomfort. Lymphatic metastasis is uncommon. Patients with benign tumors may have a better prognosis than those with malignant tumors.