Verification of the termination of resuscitation rules in pediatric out-of-hospital cardiac arrest cases.

Aim: Pediatric out-of-hospital cardiac arrest has an unfavorable prognosis; therefore, making accurate predictions of outcomes is crucial for tailoring treatment plans. The termination of resuscitation rules must accurately predict unfavorable outcomes. In this study, we aimed to assess if the current termination of resuscitation rules for adults can predict factors associated with unfavorable outcomes in pediatric out-of-hospital cardiac arrest and examine the relationship between these factors and unfavorable outcomes. Methods: A retrospective nationwide cohort study of pediatric cases registered in the Japanese Association for Acute Medicine Multicenter Out-of-Hospital Cardiac Arrest Registry from June 1, 2014, to December 31, 2020, was conducted. The association between the current termination of resuscitation rules and outcomes, such as 30-day mortality and unfavorable 30-day neurological outcomes following out-of-hospital cardiac arrest, was evaluated. Results: A total of 1,216 participants were included. The positive predictive value for predicting 30-day mortality for each termination of resuscitation rule exceeded 0.9. The specificity and positive predictive value for predicting unfavorable 30-day neurological outcomes were 1.00, indicating that no rules identified favorable outcomes. Factors such as no bystander witness, no return of spontaneous circulation before hospital arrival, no automated external defibrillator or defibrillator use, and no bystander cardiopulmonary resuscitation were associated with poor 30-day mortality and neurological outcomes. Conclusion: Adult termination of resuscitation rules had a high positive predictive value for predicting pediatric out-of-hospital cardiac arrest. However, surviving cases make it challenging to use these rules for end-of-resuscitation decisions, indicating the need for identifying new rules to help predict neurological outcomes.

Registration of Amyotrophic Lateral Sclerosis: Validity in the Danish National Patient Registry.

Purpose: Health care databases are a valuable source for epidemiological research on amyotrophic lateral sclerosis (ALS) if diagnosis codes are valid. We evaluated the validity of the diagnostic codes for ALS in the Danish National Patient Registry (DNPR). Patients and Methods: We obtained data from the DNPR for all adult (>17 years) patients registered with ALS in Denmark between 1987 and 2022 (median population of 4.2 million during the study period). We randomly selected adult patients living in the North Denmark Region and Central Denmark Region (median population 1.4 million), with a primary discharge diagnosis code of ALS, diagnosed at three departments of neurology. We retrieved and reviewed medical records and estimated the positive predictive value (PPV) of the ALS diagnosis. Results: Over 36 years, we identified 5679 patients. From the validation cohort of 300 patients, we were able to retrieve 240 (80%) medical records, and 215 ALS diagnoses were confirmed. The overall positive predictive value was 89.6% (95% confidence interval (CI): 85.1-92.8). The highest PPV was achieved for diagnoses registered for patients aged ≥70 years (93.8; 95% CI: 86.2-97.3) compared to patients <60 years (83.4; 95% CI: 73.3-90.7). Conclusion: We found a high PPV of primary diagnostic codes for ALS from Danish departments of neurology, demonstrating high validity. Thus, the DNPR is a well-suited data source for large-scale epidemiological research on ALS.

Comment on "Does the 5-2-1 criteria identify patients with advanced Parkinson's disease? Real-world screening accuracy and burden of 5-2-1-positive patients in 7 countries".

The 5-2-1 criteria are intended to help general neurologists identify patients with advanced Parkinson's disease who may benefit from treatment optimisation, such as with a device-aided therapy. Although the 5-2-1 criteria claim to address an unmet need, we urge readers to cautiously interpret the results of this validation study.

The performance evaluation of NIPT for fetal chromosome microdeletion/microduplication detection: a retrospective analysis of 68,588 Chinese cases.

Background: Chromosomal abnormalities are the main cause of birth defects in newborns. Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been applied to the detection of common trisomy (T21, T18, T13). However, the application of NIPT in microdeletion and microduplication detection is still controversial. Methods: This study retrospectively analyzed the data of 68,588 cases that underwent NIPT at Ganzhou Maternal and Child Health Hospital in China. These data were used to evaluate the performance of NIPT in fetal chromosome microdeletion/microduplication detection and to investigate the key factors affecting the NIPT performance. Results: A total of 281 cases (0.41%) had positive NIPT results with copy number variants (CNVs), of which 161 were validated by karyotyping and chromosome microarray analysis (CMA). Among the 161 cases, 92 were confirmed as true positives through karyotyping or CMA, including 61 microdeletion cases and 31 microduplication cases, resulting in a positive predictive value (PPV) of 57.14%. Improvements in library construction methods increased the fraction of cell-free fetal DNA (cffDNA) from 13.76% to 18.44%, leading to a significant improvement in the detection rate (0.47% vs. 0.15%) and PPV (59.86% vs. 28.57%) of NIPT for CNVs. Conclusion: This study proved the robust performance of NIPT for fetal chromosome microdeletion/microduplication detection. In addition, the cffDNA fraction is a key factor influencing NIPT, with increased cffDNA fraction improving the performance of NIPT.

Perspectives on technology: Prostate Imaging-Reporting and Data System (PI-RADS) interobserver variability.

OBJECTIVES: To explore the topic of Prostate Imaging-Reporting and Data System (PI-RADS) interobserver variability, including a discussion of major sources, mitigation approaches, and future directions. METHODS: A narrative review of PI-RADS interobserver variability. RESULTS: PI-RADS was developed in 2012 to set technical standards for prostate magnetic resonance imaging (MRI), reduce interobserver variability at interpretation, and improve diagnostic accuracy in the MRI-directed diagnostic pathway for detection of clinically significant prostate cancer. While PI-RADS has been validated in selected research cohorts with prostate cancer imaging experts, subsequent prospective studies in routine clinical practice demonstrate wide variability in diagnostic performance. Radiologist and biopsy operator experience are the most important contributing drivers of high-quality care among multiple interrelated factors including variability in MRI hardware and technique, image quality, and population and patient-specific factors such as prostate cancer disease prevalence. Iterative improvements in PI-RADS have helped flatten the curve for novice readers and reduce variability. Innovations in image quality reporting, administrative and organisational workflows, and artificial intelligence hold promise in improving variability even further. CONCLUSION: Continued research into PI-RADS is needed to facilitate benchmark creation, reader certification, and independent accreditation, which are systems-level interventions needed to uphold and maintain high-quality prostate MRI across entire populations.

Perspective on statistical power and equivalence tests.

The use of both sexes or genders should be considered in experimental design, analysis, and reporting. Since there is no requirement to double the sample size or to have sufficient power to study sex differences, challenges for the statistical analysis can arise. In this article, we focus on the topics of statistical power and ways to increase this power. We also discuss the choice of an appropriate design and statistical method and include a separate section on equivalence tests needed to show the absence of a relevant difference.

Prevalence of Leber hereditary optic neuropathy in the Community of Madrid (Spain), estimation with a capture-recapture method.

BACKGROUND: Leber hereditary optic neuropathy (LHON) typically presents in young adults as bilateral painless subacute visual loss. Prevalence data are scarce. The aim of this study was to examine the validity of different ascertainment sources used in population-based rare diseases registries to detect cases, and to explore the impact of a capture-recapture method in the estimation of the prevalence of LHON in the Autonomous Community of Madrid (ACM) in 2022. METHODS: Descriptive cross-sectional population-based study. Potential LHON cases were detected by automatic capture from the healthcare information sources usually explored for the Regional Registry for Rare Diseases (SIERMA). Ophthalmologists provided data from their clinical registry. Positive predictive values (PPV) and sensitivity with 95% confidence intervals (CI) were estimated. Global and by sex prevalences were calculated with confimed cases and with those estimated by the capture-recapture method. RESULTS: A total of 102 potential LHON cases were captured from healthcare information sources, 25 of them (24.5%) finally were confirmed after revision, with an overall PPV of 24.5% (95%CI 17.2-33.7). By source, the electronic clinical records of primary care had the highest PPV (51.2, 95%CI 36.7-65.4). The ophthalmologists clinical registry provided 22 cases, 12 of them not detected in the automatic capture sources. The clinical registry reached a sensitivity of 59.5% (95%CI 43.5-73.6) and the combination of automatic capture sources reached a 67.6% (95%CI: 51.5-80.4). The total confirmed cases were 37, with a mean age of 48.9 years, and a men: women ratio of 2.4:1. Genetic information was recovered in 27 cases, with the m.3460 mutation being the most frequent (12 cases). The global prevalence was 0.55 cases/100,000 inhabitants (95%CI 0.40-0.75), and with the capture-recapture method reached 0.79 cases/100,000 (95%CI 0.60-1.03), a 43.6% higher, 1.15 cases/100,000 (95%CI 0.83-1.58) in men and 0.43 cases/100,000 (95%CI 0.26-0.70) in women. CONCLUSIONS: The prevalence of LHON estimated in the ACM was lower than in other European countries. Population-based registries of rare diseases require the incorporation of confirmed cases provided by clinicians to asure the best completeness of data. The use of more specific coding for rare diseases in healthcare information systems would facilitate the detection of cases. Further epidemiologic studies are needed to assess potential factors that may influence the penetrance of LHON.

Detection Algorithms for Gastrointestinal Perforation Cases in the Medical Information Database Network (MID-NET®) in Japan.

BACKGROUND: The Medical Information Database Network (MID-NET®) in Japan is a vast repository providing an essential pharmacovigilance tool. Gastrointestinal perforation (GIP) is a critical adverse drug event, yet no well-established GIP identification algorithm exists in MID-NET®. METHODS: This study evaluated 12 identification algorithms by combining ICD-10 codes with GIP therapeutic procedures. Two sites contributed 200 inpatients with GIP-suggestive ICD-10 codes (100 inpatients each), while a third site contributed 165 inpatients with GIP-suggestive ICD-10 codes and antimicrobial prescriptions. The positive predictive values (PPVs) of the algorithms were determined, and the relative sensitivity (rSn) among the 165 inpatients at the third institution was evaluated. RESULTS: A trade-off between PPV and rSn was observed. For instance, ICD-10 code-based definitions yielded PPVs of 59.5%, whereas ICD-10 codes with CT scan and antimicrobial information gave PPVs of 56.0% and an rSn of 97.0%, and ICD-10 codes with CT scan and antimicrobial information as well as three types of operation codes produced PPVs of 84.2% and an rSn of 24.2%. The same algorithms produced statistically significant differences in PPVs among the three institutions. Combining diagnostic and procedure codes improved the PPVs. The algorithm combining ICD-10 codes with CT scan and antimicrobial information and 80 different operation codes offered the optimal balance (PPV: 61.6%, rSn: 92.4%). CONCLUSION: This study developed valuable GIP identification algorithms for MID-NET®, revealing the trade-offs between accuracy and sensitivity. The algorithm with the most reasonable balance was determined. These findings enhance pharmacovigilance efforts and facilitate further research to optimize adverse event detection algorithms.

Quantification of Metamorphopsia in Resolved Idiopathic Central Serous Chorioretinopathy: An Analysis Using M-CHARTS, Amsler Grid, and Optical Coherence Tomography.

Purpose: To quantify metamorphopsia in patients with resolved idiopathic Central Serous Chorioretinopathy (CSCR) using M-CHARTS and compare the results with the traditional Amsler grid and optical coherence tomography (OCT). Patients and Methods: For the purpose of this study, all consecutive cases of patients with resolved CSCR were evaluated for metamorphopsia (using the standard Amsler grid and M-CHARTS) and spectral domain OCT. The OCT images were analyzed for the following five parameters: central macular thickness, pigment epithelial detachment, retinal pigment epithelial bumps, discontinuation in the inner segment/outer segment junction or the external limiting membrane, fibrinous exudates in the subretinal space, and hyperreflective dots in the intraretinal and/or subretinal layer. Binary logistic regression was used to find the association between metamorphopsia and foveal morphology. Cohen's Kappa was used to determine the agreement between the M-CHARTS and Amsler grid for diagnosing metamorphopsia. The sensitivity, specificity, and accuracy in the diagnosis of metamorphopsia were calculated against the Amsler grid. Results: Of 41 eyes, Amsler Grid detected metamorphopsia in 39.02%, and M-CHARTS detected metamorphopsia in 53.66%. The agreement rate of detection between the two tests was moderate (Kappa=0.52). M-CHARTS had a sensitivity of 87.50%, a specificity of 68.00%, a positive predictive value of 63.64%; and a negative predictive value of 89.47% for the diagnosis of metamorphopsia compared to the Amsler grid. The presence of PED in OCT was significantly associated with metamorphopsia. Conclusion: M-CHARTS can be a useful ancillary test to detect and quantify metamorphopsia even after fluid resolution in CSCR. Structural changes in macular morphology as observed with OCT can predict the likelihood of metamorphopsia.

Comparison of the performance of NIPT and NIPT-plus for fetal chromosomal aneuploidy and high Z-score increases the positive predictive value.

OBJECTIVE: To evaluate non-invasive prenatal testing (NIPT) and expanded non-invasive prenatal testing (NIPT-plus) for detecting aneuploidies at different sequencing depths and assess Z-score accuracy in predicting trisomies 21, 18, 13, 45X, and 47XXX. METHODS: Pregnancies with positive NIPT or NIPT-plus results detected at the prenatal diagnosis center of Nanfang Hospital were included in this retrospective study, between January 2017 and December 2022. Invasive prenatal diagnostic results were collected. Logistic regression analyses were used to study the relationship between Z-score and positive predictive value (PPV). Optimal cut-off values were obtained based on receiver operating characteristic analysis, and PPVs were calculated in different groups. RESULTS: We evaluated 1348 pregnant women with positive results, including 930 reported by NIPT and 418 reported by NIPT-plus. NIPT reported significantly more rare chromosomal aneuploidies (RCAs), and NIPT-plus had a significantly higher PPV for trisomy 21 (T21). Logistic regression analyses showed a significant association (P < 0.001) between Z-score and PPVs for T21 and trisomy 18 (T18). A linear relationship was observed between fetal fraction (FF) and Z-values in the true positive cases of T21 and T18.The high Z-score group had significantly higher PPVs than the low Z-score group for T21, T18, trisomy 13, and 47XXX, but not for 45X. CONCLUSION: The Z-score is helpful in assessing NIPT or NIPT-plus results. Therefore, we suggest including the Z-score and FF in the results. By combining the Z-score, FF, and maternal age, clinicians can interpret NIPT results more accurately and improve personal counsel to reduce patients' anxiety.

Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

BACKGROUND: Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change performance. METHODS: The Swiss CF-NBS is based on an IRT-DNA algorithm with a second IRT (IRT-2) as safety net. We analysed data from 2011 to 2021, covering 959,006 IRT-1 analyses and 282 children with CF. We studied performance based on European Cystic Fibrosis Society (ECFS) standards including sensitivity, specificity, positive predictive value (PPV), false negative rate, and second heel-prick tests; identified optimal IRT cut-offs using receiver operating characteristics (ROC) curves; and calculated performance for simulated algorithms with different cut-offs for IRT-1, IRT-2, and safety net. RESULTS: The Swiss CF-NBS showed excellent sensitivity (96 %, 10 false negative cases) but moderate PPV (25 %). Optimal IRT-1 and IRT-2 cut-offs were identified at 2.7 (>99th percentile) and 5.9 (>99.8th percentile) z-scores, respectively. Analysis of simulated algorithms showed that removing the safety net from the current algorithm could increase PPV to 30 % and eliminate >200 second heel-prick tests per year, while keeping sensitivity at 95 %. CONCLUSION: The Swiss CF-NBS program performed well over 11 years but did not achieve the ECFS standards for PPV (≥30 %). Modifying or removing the safety net could improve PPV and reduce unnecessary follow-up tests while maintaining the ECFS standards for sensitivity.

Medical diagnostic accuracy measures: an innovative approach based on the area under predictive values curves.

Positive and negative estimates are commonly used by clinicians to evaluate the likelihood of a disease stage being present based on test results. The predicted values are dependent on the prevalence of the underlying illness. However, for certain diseases or clinical conditions, the prevalence is unknown or different from one region to another or from one population to another, leading to an erroneous diagnosis. This article introduces innovative post-test diagnostic precision measures for continuous tests or biomarkers based on the combined areas under the predictive value curves for all possible prevalence values. The proposed measures do not vary as a function of the prevalence of the disease. They can be used to compare different diagnostic tests and/or biomarkers' abilities for rule-in, rule-out, and overall accuracy based on the combined areas under the predictive value curves. The relationship of the proposed measures to other diagnostic accuracy measures is discussed. We illustrate the proposed measures numerically and use a real data example on breast cancer.

Accuracy of routinely collected hospital administrative discharge data and death certificate ICD-10 diagnostic coding in progressive supranuclear palsy and corticobasal syndrome: a systematic review and validation study.

BACKGROUND: We conducted a systematic review to identify existing ICD-10 coding validation studies in progressive supranuclear palsy and corticobasal syndrome [PSP/CBS]) and, in a new study, evaluated the accuracy of ICD-10 diagnostic codes for PSP/CBS in Scottish hospital inpatient and death certificate data. METHODS: Original studies that assessed the accuracy of specific ICD-10 diagnostic codes in PSP/CBS were sought. Separately, we estimated the positive predictive value (PPV) of specific codes for PSP/CBS in inpatient hospital data (SMR01, SMR04) compared to clinical diagnosis in four regions. Sensitivity was assessed in one region due to a concurrent prevalence study. For PSP, the consistency of the G23.1 code in inpatient and death certificate coding was evaluated across Scotland. RESULTS: No previous ICD-10 validation studies were identified. 14,767 records (SMR01) and 1497 records (SMR04) were assigned the candidate ICD-10 diagnostic codes between February 2011 and July 2019. The best PPV was achieved with G23.1 (1.00, 95% CI 0.93-1.00) in PSP and G23.9 in CBS (0.20, 95% CI 0.04-0.62). The sensitivity of G23.1 for PSP was 0.52 (95% CI 0.33-0.70) and G31.8 for CBS was 0.17 (95% CI 0.05-0.45). Only 38.1% of deceased G23.1 hospital-coded cases also had this coding on their death certificate: the majority (49.0%) erroneously assigned the G12.2 code. DISCUSSION: The high G23.1 PPV in inpatient data shows it is a useful tool for PSP case ascertainment, but death certificate coding is inaccurate. The PPV and sensitivity of existing ICD-10 codes for CBS are poor due to a lack of a specific code.

Validity of Major Osteoporotic Fracture Diagnoses in the Danish National Patient Registry.

Objective: To evaluate the validity of diagnosis codes for Major Osteoporotic Fracture (MOF) in the Danish National Patient Registry (NPR) and secondly to evaluate whether the fracture was incident/acute using register-based definitions including date criteria and procedural codes. Methods: We identified a random sample of 2400 records with a diagnosis code for a MOF in the NPR with dates in the year of 2018. Diagnoses were coded with the 10th revision of the International Classification of Diseases (ICD-10). The sample included 2375 unique fracture patients from the Region of Southern Denmark. Medical records were retrieved for the study population and reviewed by an algorithmic search function and medical doctors to verify the MOF diagnoses. Register-based definitions of incident/acute MOF was evaluated in NPR data by applying date criteria and procedural codes. Results: The PPV for MOF diagnoses overall was 0.99 (95% CI: 0.98;0.99) and PPV=0.99 for the four individual fracture sites, respectively. Further, analyses of incident/acute fractures applying date criteria, procedural codes and using patients' first contact in the NPR resulted in PPV=0.88 (95% CI: 0.84;0.91) for hip fractures, PPV=0.78 (95% CI: 0.74;0.83) for humerus fractures, PPV=0.78 (95% CI: 0.73;0.83) for clinical vertebral fractures and PPV=0.87 (95% CI: 0.83;0.90) for wrist fractures. Conclusion: ICD-10 coded MOF diagnoses are valid in the NPR. Furthermore, a set of register-based criteria can be applied to qualify if the MOF fracture was incident/acute. Thus, the NPR is a valuable and reliable data source for epidemiological research on osteoporotic fractures.

[Evaluation of the accuracy of clinical diagnosis of conjunctival neoplasms : Comparison with histological findings after excision]. / Untersuchung der Genauigkeit klinischer Diagnosen von Neoplasien der Konjunktiva : Vergleich mit den histologischen Befunden nach Exzision.

BACKGROUND: Neoplasms of the conjunctiva include many different entities with a broad variety of clinical presentations. This can make a precise clinical diagnosis difficult. R0 resection is the gold standard treatment for most malignant conjunctival neoplasms, but not every benign lesions must treated by excision. In clinical practice it is important to make an accurate clinical diagnosis to enable the best possible management of conjunctival neoplasms. OBJECTIVE: The aim of this study was to determine the accuracy of clinical diagnosis of neoplasms of the conjunctiva. MATERIALS AND METHODS: Within a retrospective design, the data from all patients with excision of a conjunctival lesion between 2011 and 2020 in the Department of Ophthalmology of the UKSH Campus Kiel were extracted and analyzed. The specificity, sensitivity, and positive and negative predictive value for the preoperative clinical rating of dignity and diagnosis were evaluated based on the histological diagnostic findings. RESULTS: Of 220 included cases, 75% were benign and 25% malignant. The most frequent neoplasm of the conjunctiva was benign conjunctival nevus. The sensitivity for clinical prediction of a benign lesion was 0.86 (95% confidence interval [CI] 0.59-0.92), the specificity 0.95 (CI 0.85-0.99), and the positive predictive value 0.98 (CI 0.94-1.0). The sensitivity for clinical prediction of malign dignity was 0.95 (CI 0.85-0.99), the specificity 0.88 (CI 0.83-0.93), and the positive predictive value 0.73 (CI 0.61-0.83). CONCLUSION: The derived values for clinical diagnosis of conjunctival neoplasms can be rated as good. However, in clinical practice, untypical lesions can be hard to diagnose correctly, and the clinical diagnosis should be carefully reviewed; if in doubt, excision should be preferred.

Colorectal Cancer Screening by Fecal Immunochemical Tests (FIT): Considerations on Sampling and Markers (Hb and Hb/Hp Complex) of Fecal Occult Blood (FOB).

BACKGROUND/AIM: Formal demonstration of the efficacy of colorectal cancer (CRC) screening by fecal immunochemical tests (FITs) in reducing CRC incidence and mortality is still missing. The aim of this study was to analyze the impact of sampling and FIT marker in the recently implemented CRC screening program in Finland. PATIENTS AND METHODS: Because only the index test [FIT hemoglobin (Hb)]-positive subjects are verified by the reference test (colonoscopy), the new screening program is subject to verification bias that precludes estimating the diagnostic accuracy (DA) indicators. A previously published study (5) with 100% biopsy verification of colonoscopy referral subjects (called validation cohort, n=300) was used to derive these missing DA estimates. Two points of concern were addressed: i) only one-day sample tested, and ii) only the Hb component (but not Hb/Hp complex) was analyzed by FIT. RESULTS: The estimated DA of one-sample testing for Hb in the screening setting had a very low sensitivity (SE) (12.5%; 95%CI=12.3-12.7) for adenomas, with AUC=0.560 (for CRC, AUC=0.950). Testing three samples for Hb improved SE to 19.4% (95%CI=19.1-19.7%) but had little effect on overall DA (AUC=0.590). For adenomas, one-sample testing for Hb and Hb/Hp complex provided higher SE than three-sample testing for Hb (SE 20.6%; 95%CI=20.3-21.0), and the best SE was reached when two samples were tested for Hb and Hb/Hp complex (SE 47.5%; 95%CI=46.9-48.1%) (AUC=0.730). CONCLUSION: The strategy of the current CRC screening could be significantly improved by testing two consecutive samples by Hb and Hb/Hp complex, instead of stand-alone Hb testing of one sample.

Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age.

BACKGROUND: Pathogenic (P) copy number variants (CNVs) may be associated with second-trimester ultrasound soft markers (USMs), and noninvasive prenatal screening (NIPS) can enable interrogate the entire fetal genome to screening of fetal CNVs. This study evaluated the clinical application of NIPS for detecting CNVs among fetuses with USMs in pregnant women not of advanced maternal age (AMA). RESULTS: Fetal aneuploidies and CNVs were identified in 6647 pregnant women using the Berry Genomics NIPS algorithm.Those with positive NIPS results underwent amniocentesis for prenatal diagnosis. The NIPS and prenatal diagnosis results were analyzed and compared among different USMs. A total of 96 pregnancies were scored positive for fetal chromosome anomalies, comprising 37 aneuploidies and 59 CNVs. Positive predictive values (PPVs) for trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies were 66.67%, 80.00%, 0%, and 30.43%, respectively. NIPS sensitivity for aneuploidies was 100%. For CNVs, the PPVs were calculated as 35.59% and false positive rate of 0.57%. There were six P CNVs, two successfully identified by NIPS and four missed, of which three were below the NIPS resolution limit and one false negative. The incidence of aneuploidies was significantly higher in fetuses with absent or hypoplastic nasal bone, while that of P CNVs was significantly higher in fetuses with aberrant right subclavian artery (ARSA), compared with other groups. CONCLUSIONS: NIPS yielded a moderate PPV for CNVs in non-AMA pregnant women with fetal USM. However, NIPS showed limited ability in identifying P CNVs. Positive NIPS results for CNVs emphasize the need for further prenatal diagnosis. We do not recommend the use of NIPS for CNVs screening in non-AMA pregnant women with fetal USM, especially in fetuses with ARSA.

Estimating the effect of latent time-varying count exposures using multiple lists.

A major challenge in longitudinal built-environment health studies is the accuracy of commercial business databases that are used to characterize dynamic food environments. Different databases often provide conflicting exposure measures on the same subject due to different source credibilities. As on-site verification is not feasible for historical data, we suggest combining multiple databases to correct the bias in health effect estimates due to measurement error in any 1 datasource. We propose a joint model for the time-varying health outcomes, observed count exposures, and latent true count exposures. Our model estimates the time-specific quality of sources and incorporates time dependence of true count exposure by Poisson integer-valued first-order autoregressive process. We take a Bayesian nonparametric approach to flexibly account for location-specific exposures. By resolving the discordance between different databases, our method reduces the bias in the longitudinal health effect of the true exposures. Our method is demonstrated with childhood obesity data in California public schools with respect to convenience store exposures in school neighborhoods from 2001 to 2008.

A Retrospective Analysis of the Computed Tomography Findings and Diagnosis of 53 Cases of Elastofibroma in the Infrascapular Region.

OBJECTIVE: In this work, we have used histopathology as the gold standard for the diagnosis, calculated the sensitivity and positive predictive value (PPV) of computed tomography (CT), and analyzed the CT and clinical characteristics of pathologically proven elastofibromas. METHODS: A systematic retrospective analysis was performed on all patients with infrascapular lesions who were treated in the hospital from 2006 to 2018. CT and histopathological examinations were performed for all cases, and the CT sensitivity and PPV for the diagnosis of elastofibroma were calculated. 12 of 53 cases (20 lesions) underwent enhanced CT scan after CT plain scan, and the related clinical and CT features of elastofibromas have been discussed. RESULTS: Of the 54 patients treated during the study, CT diagnosis was consistent with histopathology in 53 cases. One was a false-positive patient. The PPV and sensitivity of the CT in the diagnosis of elastofibroma were 93.3% (95% CI 68.0%-99.8%) and 100%, respectively. The CT values of 12 patients with 20 lesions on plain and enhanced scans were statistically significant (P=0.001). The prevalence of elastofibromas in males and females was statistically significant (P=.000). There was no statistically significant difference in the incidence of left and right elastofibromas (P=0.752). There was no significant difference in the volume of left and right lesions (P=0.209) and the volume of elastofibromas between males and females (P=.474). CONCLUSION: CT is the most practical tool for the evaluation of elastofibromas in the infrascapular region.

Validation of diagnoses of liver disorders in users of systemic azole antifungal medication in Sweden.

BACKGROUND: Liver disorders are important adverse effects associated with antifungal drug treatment. However, the accuracy of Clinical International Classification of Diseases (ICD)-10 codes in identifying liver disorders for register based research is not well-established. This study aimed to determine the positive predictive value (PPV) of the ICD-10 codes for identifying patients with toxic liver disease, hepatic failure, and jaundice among patients with systemic antifungal treatment. METHODS: Data from the Swedish Prescribed Drug Register and the National Patient Register were utilized to identify adult patients who received systemic azole antifungal drugs and had a recorded diagnosis of toxic liver disease (K71.0, K71.1, K71.2, K71.6, K71.8, K71.9), hepatic failure (K72.0, K72.9), or jaundice (R17) between 2005 and 2016. The medical records of all included patients were reviewed. Prespecified criteria were used to re-evaluate and confirm each diagnosis, serving as the gold standard to calculate PPVs with 95% confidence intervals (95% CI) for each diagnostic group. RESULTS: Among the 115 included patients, 26 were diagnosed with toxic liver disease, 58 with hepatic failure, and 31 with jaundice. Toxic liver disease was confirmed in 14 out of 26 patients, yielding a PPV of 53.8% (95% CI 33.4-73.4%). Hepatic failure was confirmed in 26 out of 38 patients, resulting in a PPV of 62.1% (95% CI 48.4-74.5%). The highest PPV was found in jaundice, with 30 confirmed diagnoses out of 31, yielding a PPV of 96.8% (95% CI 83.3-99.9%). CONCLUSION: Among patients who received azole antifungal treatment and were subsequently diagnosed with a liver disorder, the PPV for the diagnosis of jaundice was high, while the PPVs for toxic liver disease and hepatic failure were lower.