BACKGROUND

Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.

To determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.

We performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.

We found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.

Our analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.

Objective To investigate the value of the novel lymphatic contrast-enhanced ultrasound(LCEUS)and conventional venous contrast-enhanced ultrasound(VCEUS)in the differential diagnosis of benign and malignant cervical lymph nodes in patients with thyroid cancer. Methods Patients with suspected thyroid cancer underwent conventional ultrasound,VCEUS,and LCEUS examinations of cervical lymph nodes before biopsy.The diagnostic abilities of conventional ultrasound,VCEUS,and LCEUS were compared with pathological results as the golden standard. Results Forty-four patients with 52 lymph nodes were included in the final data.Thirty-eight metastatic lymph nodes were confirmed by pathological results,and 14 were benign.The diagnostic sensitivity,specificity,and accuracy were 97.37%,71.43%,and 90.38% for LCEUS,92.11%,35.71%,and 76.92% for VCEUS,and 94.74%,21.43%,and 75.00% for conventional ultrasound,respectively.The area under the curve of LCEUS analyzed by the receiver operating characteristic curve was greater than that of VCEUS(P=0.020)and conventional ultrasound(P<0.001). Conclusion LCEUS could significantly improve the differential diagnosis of cervical lymph node metastasis in the patients with thyroid cancer,providing a basis for precise clinical treatment.
Humans ; Thyroid Neoplasms/diagnostic imaging* ; Lymphatic Metastasis/diagnostic imaging* ; Diagnosis, Differential ; Female ; Male ; Middle Aged ; Ultrasonography ; Adult ; Lymph Nodes/pathology* ; Contrast Media ; Neck ; Aged ; Young Adult ; Adolescent ; Sensitivity and Specificity

Objective To evaluate the reliability and validity and perform cost-consequence analysis of the brief version of the Montreal cognitive assessment(MoCA)for identifying cognitive impairment in a community-based population ≥50 years of age.Methods The internal consistency and retest reliability of the brief version of the MoCA were analyzed,and the area under the curve(AUC),sensitivity,and specificity were determined to discriminate mild cognitive impairment(MCI)and dementia with the clinical dementia rating(CDR)as the diagnostic criterion.The consistency between the brief version and the full version was analyzed by the Kappa test and the Bland-Altman method,and the number of individuals entering the diagnostic assessment and the overall assessment time were estimated and compared between the two versions.Results A total of 303 individuals were included in this study,of whom 192,94,and 17 had normal cognitive function,MCI,and dementia,respectively.The Cronbach's α and re-test coefficients of the brief version of MoCA were 0.754 and 0.711(P<0.001),respectively.The brief version showed the AUC,sensitivity,and specificity of 0.889,74.5%,and 93.8% for identifying MCI,and 0.994,100%,and 93.8% for identifying dementia,respectively.When the brief version of MoCA was used to identify 94 patients with MCI in 303 individuals,107 individuals required additional diagnostic assessment,with an overall assessment time of 142.4 h,which represented decreases of 21.3% and 32.7%,respectively,compared with those of the full version.When the brief version of MoCA was used to identify 17 patients with dementia in 303 individuals,35 individuals required additional diagnostic assessment,with an overall assessment time of 70.4 h,a decrease of 29.5% in the time cost compared with the full version.Conclusions The brief version of MoCA can identify cognitively impaired individuals in a community-based middle-aged and elderly population,with diagnostic validity comparable to that of the full version but less time cost and fewer individuals needing additional diagnostic assessment to detect true-positive cases.It could be expanded for use in the community-based primary screening setting.
Humans ; Aged ; Middle Aged ; Cognitive Dysfunction/diagnosis* ; Male ; Female ; Mental Status and Dementia Tests ; Reproducibility of Results ; Dementia/diagnosis* ; Sensitivity and Specificity ; Aged, 80 and over ; Cost-Benefit Analysis

Objective To compare the diagnostic value of transabdominal intestinal ultrasound (IUS) and magnetic resonance enterography (MRE) for intestinal stenosis in inflammatory bowel disease (IBD). Methods A retrospective analysis was conducted on the imaging features of 51 IBD patients who underwent both IUS and MRE at Beijing Friendship Hospital,Capital Medical University,between January 2021 and February 2025.With endoscopy as the gold standard,the diagnostic performance of the two methods was compared. Results The sensitivity (84.2% vs. 52.6%,P=0.008) and accuracy (66.7% vs. 45.1%,P=0.035) of IUS for stenosis were higher than those of MRE.In the localization of stenosis,IUS demonstrated higher sensitivity than MRE for detecting stenosis in the terminal ileum (78.6% vs. 35.7%,P=0.070) and colorectum (86.7% vs. 53.3%,P=0.060).Furthermore,IUS showed higher diagnostic accuracy than MRE for terminal ileum stenosis (70.6% vs. 29.4%,P=0.039).The intestinal wall thickness[(8.2±2.7) mm vs. (10.3±3.8) mm;t=3.20,P=0.002)] and stenosis inner diameter[(3.0±1.6) mm vs. (4.3±1.8) mm;t=2.15,P=0.035] measured by IUS were lower than those measured by MRE,with a moderate level of consistency (ICC:0.19-0.53).In addition,IUS demonstrated a higher detection rate for mesenteric fat hypertrophy (70.6% vs. 27.5%,Kappa=0.27,P=0.005),whereas MRE was more sensitive in detecting lymphadenopathy (90.2% vs. 56.9%,Kappa=0.16,P=0.080). Conclusions IUS is superior to MRE in the diagnosis and localization sensitivity for intestinal stenosis in IBD.However,the two methods showcase poor consistency in detecting and quantitating some inflammatory signs.IUS can be used as a first-line screening method for diagnosing intestinal stenosis in IBD patients,while its clinical application should be combined with specific needs to optimize diagnosis.
Humans ; Retrospective Studies ; Constriction, Pathologic/diagnostic imaging* ; Ultrasonography/methods* ; Magnetic Resonance Imaging/methods* ; Inflammatory Bowel Diseases/diagnostic imaging* ; Male ; Female ; Adult ; Middle Aged ; Intestines/diagnostic imaging* ; Sensitivity and Specificity

Objective To evaluate the diagnostic value of ultrasound in chronic appendicitis. Methods A retrospective analysis was conducted on the ultrasound imaging features of the appendixes in 68 patients with chronic appendicitis (chronic appendicitis group) confirmed by pathological results at the Affiliated Hospital of Inner Mongolia Medical University from January 2023 to December 2024,as well as 85 healthy volunteers (normal appendix group) of different ages with no history of abdominal pain during the same period.Multivariate Logistic regression was employed to investigate the sensitivity and specificity of different variables in diagnosing chronic appendicitis. Results The chronic appendicitis group had higher appendix diameter (Z=-8.47,P<0.001),unilateral wall thickness (Z=-7.16,P<0.001),and submucosal thickness (Z=-9.73,P<0.001) than the normal appendix group.Appendix diameter (OR=3.11,95%CI=1.37-7.02,P=0.006) and submucosal thickness (OR=5 492.73,95%CI=89.53-336 984.13,P<0.001) were identified as independent factors for diagnosing chronic appendicitis,while gender,age,unilateral wall thickness,and intraluminal conditions had no significant impact on the diagnosis of chronic appendicitis (all P>0.05).When appendix diameter combined with submucosal thickness was used as a joint diagnostic indicator,the model demonstrated the best performance,with the sensitivity of 92.65%,the specificity of 97.65%,and the accuracy increasing to 95.42%. Conclusion The combined use of appendix diameter and submucosal thickness can significantly improve the accuracy,specificity,and reliability of ultrasound in diagnosing chronic appendicitis.
Humans ; Appendicitis/diagnostic imaging* ; Ultrasonography ; Retrospective Studies ; Male ; Female ; Adult ; Chronic Disease ; Middle Aged ; Appendix/diagnostic imaging* ; Sensitivity and Specificity ; Young Adult ; Logistic Models ; Adolescent

Objective To evaluate the diagnostic value of intestinal ultrasound (IUS) for organic lesions in the intestines of patients with chronic abdominal pain or diarrhea. Methods The IUS signs in 263 patients with chronic abdominal pain or diarrhea were retrospectively analyzed.With the endoscopic examination results as the gold standard,comparison was performed for the IUS signs between the groups with positive and negative endoscopic results,as well as between the inflammatory bowel disease group and the non-specific intestinal inflammation group of positive cases.Furthermore,the detection rates of IUS in different intestinal segments were analyzed to evaluate the accuracy of IUS in the diagnosis and localization of intestinal lesions. Results Among the 263 patients,194 (73.8%) and 69 (26.2%) patients were in the groups with positive and negative endoscopic results,respectively.The diagnosis sensitivity,specificity,and accuracy of IUS were 82.0%,71.0%,and 79.1%,respectively.The proportions of positive IUS signs in the group with positive endoscopic results were higher than that in the group with negative endoscopic results (all P<0.001).The proportions of positive IUS signs in the inflammatory bowel disease group were higher than those in the non-specific bowel inflammation group (all P<0.001).When the lesion was located in the ileum,ileocecal region,and colon,IUS demonstrated good consistency with endoscopic results in locating the lesion (kappa=0.642,0.686,and 0.601,respectively),with sensitivity and specificity of 82.7% (95%CI=75.4%-88.6%) and 81.5% (95%CI=73.5%-87.9%),73.7% (95%CI=62.3%-83.1%) and 93.0% (95%CI=88.4%-96.2%),and 68.9% (95%CI=58.3%-78.2%) and 89.6% (95%CI=84.1%-93.7%),respectively. Conclusions IUS can be used for screening the patients with chronic abdominal pain or diarrhea to detect organic lesions in the intestines. Moreover,it can effectively locate the affected intestinal segment,which is helpful for the monitoring and follow-up of intestinal diseases.
Humans ; Diarrhea/diagnostic imaging* ; Female ; Male ; Abdominal Pain/diagnostic imaging* ; Middle Aged ; Adult ; Ultrasonography ; Retrospective Studies ; Aged ; Young Adult ; Intestines/diagnostic imaging* ; Adolescent ; Chronic Disease ; Sensitivity and Specificity ; Aged, 80 and over

PURPOSE: To analyze the diagnostic efficacy of computed tomography angiography compared to digital cerebral angiography for the diagnosis of traumatic aneurysms (TAs) associated with combat-related penetrating head injuries and propose the most suitable angiography protocol in this clinical context. METHODS: A retrospective analysis was conducted on patients admitted to the neurosurgical clinic for penetrating traumatic brain injuries between February, 2022 and July, 2024, for whom both cerebral multidetector computed tomography angiography (MCTA) and digital cerebral angiography (DCA) were available. The inclusion were patients (1) with penetrating head injuries, (2) with missile trajectory traverses through the Sylvian or great longitudinal fissure, (3) basal cisterns with/or major subarachnoid hemorrhage. The sensitivity, specificity, positive predictive value, and negative predictive value of MCTA were calculated. DCA was considered as the gold standard of diagnosis. The sensitivity, specificity, positive predictive value, and negative predictive value of MCTA were calculated. Descriptive statistics and nonparametric statistics were used to analyze the study results and their differences, respectively. RESULTS: A total of 40 patients with 45 TAs were included in the study. Of these, 26 patients (65.0%) were found to have aneurysms on MCTA. The median diameter of the aneurysms diagnosed by MCTA was 4.9 (3.6, 4.8) mm (range of 2.5 - 10.4 mm). However, the mean diameter of TAs not detected by MCTA but diagnosed by DCA was (3.0 ± 1.3) mm (range of 1.3 - 4.9 mm). MCTA demonstrated sensitivity and specificity of 35.5% and 99.5%, respectively, with positive and negative predictive values of 92.3% and 90.7%. CONCLUSIONS A low sensitivity of MCTA for the diagnosis of TAs associated with combat-related penetrating head injuries was reported. When MCTA is inconclusive in the setting of radiologic predictors of cerebral artery injury, DSA may be required.
Humans ; Male ; Retrospective Studies ; Adult ; Multidetector Computed Tomography/methods* ; Intracranial Aneurysm/etiology* ; Computed Tomography Angiography/methods* ; Female ; Head Injuries, Penetrating/diagnostic imaging* ; Middle Aged ; Cerebral Angiography/methods* ; Predictive Value of Tests ; Sensitivity and Specificity ; Young Adult

OBJECTIVES: To evaluate the effectiveness of single-balloon and double-balloon enteroscopy in diagnosing pediatric small bowel diseases and assess the diagnostic efficacy of computed tomography enterography (CTE) for small bowel diseases using enteroscopy as the reference standard. METHODS: Clinical data from 576 children who underwent enteroscopy at Hunan Children's Hospital between January 2017 and December 2023 were retrospectively collected. The children were categorized based on enteroscopy type into the single-balloon enteroscopy (SBE) group (n=457) and double-balloon enteroscopy (DBE) group (n=119), and the clinical data were compared between the two groups. The sensitivity and specificity of CTE for diagnosing small bowel diseases were evaluated using enteroscopy results as the standard. RESULTS: Among the 576 children, small bowel lesions were detected by enteroscopy in 274 children (47.6%).There was no significant difference in lesion detection rates or complication rates between the SBE and DBE groups (P>0.05), but the DBE group had deeper insertion, longer procedure time, and higher complete small bowel examination rate (P<0.05). The complication rate during enteroscopy was 4.3% (25/576), with 18 cases (3.1%) of mild complications and 7 cases (1.2%) of severe complications, which improved with symptomatic treatment, surgical, or endoscopic intervention. Among the 412 children who underwent CTE, the sensitivity and specificity for diagnosing small bowel diseases were 44.4% and 71.3%, respectively. CONCLUSIONS SBE and DBE have similar diagnostic efficacy for pediatric small bowel diseases, but DBE is preferred for suspected deep small bowel lesions and comprehensive small bowel examination. Enteroscopy in children demonstrates relatively good overall safety. CTE demonstrates relatively low sensitivity but comparatively high specificity for diagnosing small bowel diseases.
Retrospective Studies ; Treatment Outcome ; Double-Balloon Enteroscopy/statistics & numerical data* ; Single-Balloon Enteroscopy/statistics & numerical data* ; Humans ; Male ; Female ; Child ; Operative Time ; Tomography, X-Ray Computed/statistics & numerical data* ; Sensitivity and Specificity ; Intestine, Small/surgery* ; Intestinal Diseases/surgery*

BACKGROUND

Down syndrome or trisomy 21, the most common chromosomal disorder, results from the presence of a third copy of chromosome 21 and manifests as mild to moderate intellectual disability, growth retardation, congenital heart defects, gastrointestinal abnormalities, and characteristic facial features. Several methods have been used to screen for Down syndrome in the prenatal period, such as ultrasound, biomarkers, cell-free DNA testing, and combinations of these tests. A positive result from one or more of these screening tests signals the need for confirmatory karyotyping to clinch the diagnosis. Ultrasound between 11 to 14 weeks of gestation can evaluate nuchal translucency (NT) to screen for Down syndrome. During the second trimester, a triple or quadruple test can also be performed alone or in addition to NT to quantify Down syndrome risk. In limited resource settings however, only the measurement of NT via ultrasound can be performed since biomarker tests are either unavailable or inaccessible. While the diagnostic performance of NT measurement alone has been investigated in several observational studies, there is no consensus on its performance as a sole test to screen for Down syndrome.

To determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.

We performed a systematic search on the PubMed, ProQuest, and Cochrane Library databases for recent systematic reviews and meta-analyses that addressed the objective. The existing reviews found were then independently appraised by the two reviewers with the AMSTAR-2 checklist. To update the existing reviews, a systematic search was done in the same databases to identify additional primary diagnostic studies, which were appraised using the QUADAS-2 tool. Random-effects univariate meta-analysis and summary receiving operator curve (HSROC) analysis for the outcomes were performed using Review Manager version 5.4 and R version 4.2.2, respectively. Subgroup analysis was performed by stratifying the baseline risk of mothers for fetal anomaly as low- or high-risk. Highrisk mothers were defined as women with risk factors such as advanced age, positive serum screen, presence of other ultrasound anomalies, and history of previous fetus with anomaly.

We found 22 cohort studies (n=225,846) of women at low-risk for fetal anomaly. The pooled sensitivity was 67.8% (95% CI: 61.4%-73.6%, I2=70.4%) and specificity was 96.3% (95% CI: 95.5%-96.9%, I2=96.7%). For low-risk women, the overall certainty of evidence was low, due to different modes of verification and heterogeneity not completely explained by variability in baseline risk or cut-points. Seven studies (n=9,197) were on high-risk women. The pooled sensitivity was 62.2% (95% CI: 54.1%-69.7%, I2=38.8%) and specificity was 96.5% (95% CI: 93.6%-98.1%, I2=95.5%). For women at high-risk, the evidence was rated as moderate due to differential verification.

Our analysis showed that NT measured through first-trimester ultrasound is specific for Down syndrome but has low sensitivity. Despite this, it is a useful screening test for Down syndrome in low-resource settings where other strategies may not be available or accessible. Furthermore, interpretation of NT results must take into consideration its limited sensitivity as this may lead to missed cases.

INTRODUCTION: Obstructive sleep apnoea (OSA) is a serious but underdiagnosed condition. Demand for the gold standard diagnostic polysomnogram (PSG) far exceeds its availability. More efficient diagnostic methods are needed, even in tertiary settings. Machine learning (ML) models have strengths in disease prediction and early diagnosis. We explored the use of ML with oximetry, demographic and anthropometric data to diagnose OSA. METHODS: A total of 2,996 patients were included for modelling and divided into test and training sets. Seven commonly used supervised learning algorithms were trained with the data. Sensitivity (recall), specificity, positive predictive value (PPV) (precision), negative predictive value, area under the receiver operating characteristic curve (AUC) and F1 measure were reported for each model. RESULTS: In the best performing four-class model (neural network model predicting no, mild, moderate or severe OSA), a prediction of moderate and/or severe disease had a combined PPV of 94%; one out of 335 patients had no OSA and 19 had mild OSA. In the best performing two-class model (logistic regression model predicting no-mild vs. moderate-severe OSA), the PPV for moderate-severe OSA was 92%; two out of 350 patients had no OSA and 26 had mild OSA. CONCLUSION Our study showed that the prediction of moderate-severe OSA in a tertiary setting with an ML approach is a viable option to facilitate early identification of OSA. Prospective studies with home-based oximeters and analysis of other oximetry variables are the next steps towards formal implementation.
Humans ; Oximetry/methods* ; Sleep Apnea, Obstructive/diagnosis* ; Male ; Female ; Middle Aged ; Machine Learning ; Polysomnography ; Adult ; Anthropometry ; ROC Curve ; Aged ; Algorithms ; Predictive Value of Tests ; Sensitivity and Specificity ; Neural Networks, Computer ; Demography