1.The diagnostic performance of nuchal translucency alone as a screening test for Down syndrome: A systematic review and meta-analysis.
Ma. Sergia Fatima P. SUCALDITO ; John Jefferson V. BESA ; Lia M. PALILEO-VILLANUEVA
Acta Medica Philippina 2025;59(Early Access 2025):1-17
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.
OBJECTIVETo determine the diagnostic performance of NT during prenatal first-trimester ultrasound as a screening test for Down syndrome.
METHODSWe 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.
RESULTSWe 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.
CONCLUSIONOur 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.
Human ; Nuchal Translucency Measurement ; Down Syndrome ; Sensitivity And Specificity
2.Diagnostic performance of a computer-aided system for tuberculosis screening in two Philippine cities.
Gabrielle P. FLORES ; Reiner Lorenzo J. TAMAYO ; Robert Neil F. LEONG ; Christian Sergio M. BIGLAEN ; Kathleen Nicole T. UY ; Renee Rose O. MAGLENTE ; Marlex Jorome M. NUGUID ; Jason V. ALACAP
Acta Medica Philippina 2025;59(2):33-40
BACKGROUND AND OBJECTIVES
The Philippines faces challenges in the screening of tuberculosis (TB), one of them being the shortage in the health workforce who are skilled and allowed to screen TB. Deep learning neural networks (DLNNs) have shown potential in the TB screening process utilizing chest radiographs (CXRs). However, local studies on AIbased TB screening are limited. This study evaluated qXR3.0 technology's diagnostic performance for TB screening in Filipino adults aged 15 and older. Specifically, we evaluated the specificity and sensitivity of qXR3.0 compared to radiologists' impressions and determined whether it meets the World Health Organization (WHO) standards.
METHODSA prospective cohort design was used to perform a study on comparing screening and diagnostic accuracies of qXR3.0 and two radiologist gradings in accordance with the Standards for Reporting Diagnostic Accuracy (STARD). Subjects from two clinics in Metro Manila which had qXR 3.0 seeking consultation at the time of study were invited to participate to have CXRs and sputum collected. Radiologists' and qXR3.0 readings and impressions were compared with respect to the reference standard Xpert MTB/RiF assay. Diagnostic accuracy measures were calculated.
RESULTSWith 82 participants, qXR3.0 demonstrated 100% sensitivity and 72.7% specificity with respect to the reference standard. There was a strong agreement between qXR3.0 and radiologists' readings as exhibited by the 0.7895 (between qXR 3.0 and CXRs read by at least one radiologist), 0.9362 (qXR 3.0 and CXRs read by both radiologists), and 0.9403 (qXR 3.0 and CXRs read as not suggestive of TB by at least one radiologist) concordance indices.
CONCLUSIONSqXR3.0 demonstrated high sensitivity to identify presence of TB among patients, and meets the WHO standard of at least 70% specificity for detecting true TB infection. This shows an immense potential for the tool to supplement the shortage of radiologists for TB screening in the country. Future research directions may consider larger sample sizes to confirm these findings and explore the economic value of mainstream adoption of qXR 3.0 for TB screening.
Human ; Tuberculosis ; Diagnostic Imaging ; Deep Learning
3.Variability of foveal avascular zone measurements among Filipino eyes using optical coherence tomography angiography.
Roberto Luis F. FRANCO ; Carlo Antonino L. NASOL
Philippine Journal of Ophthalmology 2025;50(1):33-42
OBJECTIVE
To determine the foveal avascular zone (FAZ) thickness and other FAZ measurements in eyes of healthy Filipino adults aged 20-49 years.
METHODSThis single-center, cross-sectional, observational study evaluated 186 subjects (372 eyes) of Filipino adults 20 to 49 years of age. Using Angioplex®, the automated software of the optical coherence tomography angiography (OCTA) machine, the FAZ area, perimeter, circularity, vascular density, and perfusion in the superficial FAZ were recognized. Statistical analysis was done using SPSS version 23. The mean and standard deviation of the values of superficial capillary free zone measurements were calculated.
RESULTSThe mean FAZ area was 0.297 ± 0.112 mm2, the mean circularity was 0.667 ± 0.080, and the mean perimeter was 2.316 ± 0.80 mm. These parameters were all larger in the female population (p CONCLUSIONS
In eyes of healthy Filipino adults aged 20-49 years, females exhibited larger FAZ area, higher circularity, and lower CMT, compared to males. Additionally, females displayed lower central vessel density and perfusion. While FAZ area and perimeter remained stable with age, circularity decreased, and CMT increased.
Human ; Angiography ; Tomography, Optical Coherence
4.Is non-contrast-enhanced magnetic resonance imaging cost-effective for screening of hepatocellular carcinoma?
Genevieve Jingwen TAN ; Chau Hung LEE ; Yan SUN ; Cher Heng TAN
Singapore medical journal 2024;65(1):23-29
INTRODUCTION:
Ultrasonography (US) is the current standard of care for imaging surveillance in patients at risk of hepatocellular carcinoma (HCC). Magnetic resonance imaging (MRI) has been explored as an alternative, given the higher sensitivity of MRI, although this comes at a higher cost. We performed a cost-effective analysis comparing US and dual-sequence non-contrast-enhanced MRI (NCEMRI) for HCC surveillance in the local setting.
METHODS:
Cost-effectiveness analysis of no surveillance, US surveillance and NCEMRI surveillance was performed using Markov modelling and microsimulation. At-risk patient cohort was simulated and followed up for 40 years to estimate the patients' disease status, direct medical costs and effectiveness. Quality-adjusted life years (QALYs) and incremental cost-effectiveness ratio were calculated.
RESULTS:
Exactly 482,000 patients with an average age of 40 years were simulated and followed up for 40 years. The average total costs and QALYs for the three scenarios - no surveillance, US surveillance and NCEMRI surveillance - were SGD 1,193/7.460 QALYs, SGD 8,099/11.195 QALYs and SGD 9,720/11.366 QALYs, respectively.
CONCLUSION
Despite NCEMRI having a superior diagnostic accuracy, it is a less cost-effective strategy than US for HCC surveillance in the general at-risk population. Future local cost-effectiveness analyses should include stratifying surveillance methods with a variety of imaging techniques (US, NCEMRI, contrast-enhanced MRI) based on patients' risk profiles.
Humans
;
Adult
;
Carcinoma, Hepatocellular/diagnostic imaging*
;
Liver Neoplasms/diagnostic imaging*
;
Cost-Effectiveness Analysis
;
Cost-Benefit Analysis
;
Quality-Adjusted Life Years
;
Magnetic Resonance Imaging/methods*
6.O-arm navigation versus C-arm navigation for guiding percutaneous long sacroiliac screws placement in treatment of Denis type Ⅱ sacral fractures.
Wei ZHOU ; Guodong WANG ; Xuan PEI ; Zhixun FANG ; Yu CHEN ; Suyaolatu BAO ; Jianan CHEN ; Ximing LIU
Chinese Journal of Reparative and Reconstructive Surgery 2024;38(1):28-34
OBJECTIVE:
To compare the effectiveness of O-arm navigation and C-arm navigation for guiding percutaneous long sacroiliac screws in treatment of Denis type Ⅱ sacral fractures.
METHODS:
A retrospective study was conducted on clinical data of the 46 patients with Denis type Ⅱ sacral fractures between April 2021 and October 2022. Among them, 19 patients underwent O-arm navigation assisted percutaneous long sacroiliac screw fixation (O-arm navigation group), and 27 patients underwent C-arm navigation assisted percutaneous long sacroiliac screw fixation (C-arm navigation group). There was no significant difference in gender, age, causes of injuries, Tile classification of pelvic fractures, combined injury, the interval from injury to operation between the two groups ( P>0.05). The intraoperative preparation time, the placement time of each screw, the fluoroscopy time of each screw during placement, screw position accuracy, the quality of fracture reduction, and fracture healing time were recorded and compared, postoperative complications were observed. Pelvic function was evaluated by Majeed score at last follow-up.
RESULTS:
All operations were completed successfully, and all incisions healed by first intention. Compared to the C-arm navigation group, the O-arm navigation group had shorter intraoperative preparation time, placement time of each screw, and fluoroscopy time, with significant differences ( P<0.05). There was no significant difference in screw position accuracy and the quality of fracture reduction ( P>0.05). There was no nerve or vascular injury during screw placed in the two groups. All patients in both groups were followed up, with the follow-up time of 6-21 months (mean, 12.0 months). Imaging re-examination showed that both groups achieved bony healing, and there was no significant difference in fracture healing time between the two groups ( P>0.05). During follow-up, there was no postoperative complications, such as screw loosening and breaking or loss of fracture reduction. At last follow-up, there was no significant difference in pelvic function between the two groups ( P>0.05).
CONCLUSION
Compared with the C-arm navigation, the O-arm navigation assisted percutaneous long sacroiliac screws for the treatment of Denis typeⅡsacral fractures can significantly shorten the intraoperative preparation time, screw placement time, and fluoroscopy time, improve the accuracy of screw placement, and obtain clearer navigation images.
Humans
;
Fracture Fixation, Internal/methods*
;
Retrospective Studies
;
Imaging, Three-Dimensional
;
Bone Screws
;
Surgery, Computer-Assisted
;
Tomography, X-Ray Computed
;
Spinal Fractures/surgery*
;
Fractures, Bone/surgery*
;
Pelvic Bones/injuries*
;
Postoperative Complications
;
Neck Injuries
7.Noninvasive Diagnostic Technique for Nonalcoholic Fatty Liver Disease Based on Features of Tongue Images.
Rong-Rui WANG ; Jia-Liang CHEN ; Shao-Jie DUAN ; Ying-Xi LU ; Ping CHEN ; Yuan-Chen ZHOU ; Shu-Kun YAO
Chinese journal of integrative medicine 2024;30(3):203-212
OBJECTIVE:
To investigate a new noninvasive diagnostic model for nonalcoholic fatty liver disease (NAFLD) based on features of tongue images.
METHODS:
Healthy controls and volunteers confirmed to have NAFLD by liver ultrasound were recruited from China-Japan Friendship Hospital between September 2018 and May 2019, then the anthropometric indexes and sampled tongue images were measured. The tongue images were labeled by features, based on a brief protocol, without knowing any other clinical data, after a series of corrections and data cleaning. The algorithm was trained on images using labels and several anthropometric indexes for inputs, utilizing machine learning technology. Finally, a logistic regression algorithm and a decision tree model were constructed as 2 diagnostic models for NAFLD.
RESULTS:
A total of 720 subjects were enrolled in this study, including 432 patients with NAFLD and 288 healthy volunteers. Of them, 482 were randomly allocated into the training set and 238 into the validation set. The diagnostic model based on logistic regression exhibited excellent performance: in validation set, it achieved an accuracy of 86.98%, sensitivity of 91.43%, and specificity of 80.61%; with an area under the curve (AUC) of 0.93 [95% confidence interval (CI) 0.68-0.98]. The decision tree model achieved an accuracy of 81.09%, sensitivity of 91.43%, and specificity of 66.33%; with an AUC of 0.89 (95% CI 0.66-0.92) in validation set.
CONCLUSIONS
The features of tongue images were associated with NAFLD. Both the 2 diagnostic models, which would be convenient, noninvasive, lightweight, rapid, and inexpensive technical references for early screening, can accurately distinguish NAFLD and are worth further study.
Humans
;
Non-alcoholic Fatty Liver Disease/diagnostic imaging*
;
Ultrasonography
;
Anthropometry
;
Algorithms
;
China
8.Deep learning-based radiomics allows for a more accurate assessment of sarcopenia as a prognostic factor in hepatocellular carcinoma.
Zhikun LIU ; Yichao WU ; Abid Ali KHAN ; L U LUN ; Jianguo WANG ; Jun CHEN ; Ningyang JIA ; Shusen ZHENG ; Xiao XU
Journal of Zhejiang University. Science. B 2024;25(1):83-90
Hepatocellular carcinoma (HCC) is one of the most common malignancies and is a major cause of cancer-related mortalities worldwide (Forner et al., 2018; He et al., 2023). Sarcopenia is a syndrome characterized by an accelerated loss of skeletal muscle (SM) mass that may be age-related or the result of malnutrition in cancer patients (Cruz-Jentoft and Sayer, 2019). Preoperative sarcopenia in HCC patients treated with hepatectomy or liver transplantation is an independent risk factor for poor survival (Voron et al., 2015; van Vugt et al., 2016). Previous studies have used various criteria to define sarcopenia, including muscle area and density. However, the lack of standardized diagnostic methods for sarcopenia limits their clinical use. In 2018, the European Working Group on Sarcopenia in Older People (EWGSOP) renewed a consensus on the definition of sarcopenia: low muscle strength, loss of muscle quantity, and poor physical performance (Cruz-Jentoft et al., 2019). Radiological imaging-based measurement of muscle quantity or mass is most commonly used to evaluate the degree of sarcopenia. The gold standard is to measure the SM and/or psoas muscle (PM) area using abdominal computed tomography (CT) at the third lumbar vertebra (L3), as it is linearly correlated to whole-body SM mass (van Vugt et al., 2016). According to a "North American Expert Opinion Statement on Sarcopenia," SM index (SMI) is the preferred measure of sarcopenia (Carey et al., 2019). The variability between morphometric muscle indexes revealed that they have different clinical relevance and are generally not applicable to broader populations (Esser et al., 2019).
Humans
;
Aged
;
Sarcopenia/diagnostic imaging*
;
Carcinoma, Hepatocellular/diagnostic imaging*
;
Muscle, Skeletal/diagnostic imaging*
;
Deep Learning
;
Prognosis
;
Radiomics
;
Liver Neoplasms/diagnostic imaging*
;
Retrospective Studies
9.Characteristics and therapeutic strategies of Pott's puffy tumor.
Huiyi DENG ; Zhipeng CHEN ; Xifu WU ; Qintai YANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2024;38(1):83-90
Objective:To explore the characteristics and therapeutic strategies of Pott's puffy tumor(PPT). Methods:The clinical data of two patients with PPT were retrospectively analyzed and combined with the literature, focusing on the comprehensive analysis of perioperative diagnosis and treatment strategies. Both patients underwent muti-disciplinary treatment, including timely administration of sufficient antibiotics capable of penetrating the blood-brain barrier. Early removal of PPT lesions was performed using a combined internal and external approach under nasal endoscopic guidance. Results:After standardized perioperative management, the symptoms of the two patients were completely relieved, with no recurrence after one=year follow=up. Postoperative complications such as frontal pain, numbness, local depression, or scar hyperplasiawere not present. Conclusion:PPT, being relatively rare and severe, requires careful attention. Key strategies for standardized perioperative management include multi-disciplinary consultation, timely and adequate antibiotic administration, and surgical intervention using a combined intranasal and extranasal endoscopic approach for lesion removal.
Humans
;
Pott Puffy Tumor/complications*
;
Retrospective Studies
;
Tomography, X-Ray Computed
;
Endoscopy/adverse effects*
;
Postoperative Complications
;
Anti-Bacterial Agents/therapeutic use*
;
Frontal Sinusitis/complications*
10.Diagnostic performance of a computer-aided system for tuberculosis screening in two Philippine cities
Gabrielle P. Flores ; Reiner Lorenzo J. Tamayo ; Robert Neil F. Leong ; Christian Sergio M. Biglaen ; Kathleen Nicole T. Uy ; Renee Rose O. Maglente ; Marlex Jorome M. Nugui ; Jason V. Alacap
Acta Medica Philippina 2024;58(Early Access 2024):1-8
Background and Objectives:
The Philippines faces challenges in the screening of tuberculosis (TB), one of them being the shortage in the health workforce who are skilled and allowed to screen TB. Deep learning neural networks (DLNNs) have shown potential in the TB screening process utilizing chest radiographs (CXRs). However, local studies on AIbased TB screening are limited. This study evaluated qXR3.0 technology's diagnostic performance for TB screening in Filipino adults aged 15 and older. Specifically, we evaluated the specificity and sensitivity of qXR3.0 compared to radiologists' impressions and determined whether it meets the World Health Organization (WHO) standards.
Methods:
A prospective cohort design was used to perform a study on comparing screening and diagnostic accuracies of qXR3.0 and two radiologist gradings in accordance with the Standards for Reporting Diagnostic Accuracy (STARD). Subjects from two clinics in Metro Manila which had qXR 3.0 seeking consultation at the time of study were invited to participate to have CXRs and sputum collected. Radiologists' and qXR3.0 readings and impressions were compared with respect to the reference standard Xpert MTB/RiF assay. Diagnostic accuracy measures were calculated.
Results:
With 82 participants, qXR3.0 demonstrated 100% sensitivity and 72.7% specificity with respect to the
reference standard. There was a strong agreement between qXR3.0 and radiologists' readings as exhibited by
the 0.7895 (between qXR 3.0 and CXRs read by at least one radiologist), 0.9362 (qXR 3.0 and CXRs read by both
radiologists), and 0.9403 (qXR 3.0 and CXRs read as not suggestive of TB by at least one radiologist) concordance indices.
Conclusions
qXR3.0 demonstrated high sensitivity to identify presence of TB among patients, and meets the WHO standard of at least 70% specificity for detecting true TB infection. This shows an immense potential for the tool to supplement the shortage of radiologists for TB screening in the country. Future research directions may consider larger sample sizes to confirm these findings and explore the economic value of mainstream adoption of qXR 3.0 for TB screening.
Tuberculosis
;
Diagnostic Imaging
;
Deep Learning


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