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Real-Time microcalcification detection with SAAR algorithm. 基于SAAR算法的实时微钙化检测。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-05-04 DOI: 10.1177/09287329261442665
Aleksandar Peulic, Zeljko Jovanovic, Marina Milosevic
{"title":"Real-Time microcalcification detection with SAAR algorithm.","authors":"Aleksandar Peulic, Zeljko Jovanovic, Marina Milosevic","doi":"10.1177/09287329261442665","DOIUrl":"https://doi.org/10.1177/09287329261442665","url":null,"abstract":"<p><p>BackgroundDetecting breast cancer, especially identifying microcalcifications in mammograms, is challenging due to the need for high sensitivity and efficient processing. This study presents a novel algorithm, Sigmoidal Slope Analysis and Aspect Ratio Evaluation (SAAR), designed for real-time application on edge devices. By employing a multi-step adaptive process with sigmoidal functions, SAAR enhances intensity contrast and prioritizes regions of interest, enabling fast, accurate detection of microcalcifications.ObjectiveThis study aims to develop and validate an efficient, edge-device-compatible method for detecting microcalcifications in mammographic images. The goal is to provide a tool that enhances diagnostic efficiency through real-time processing, thereby supporting early breast cancer detection in both clinical and remote settings.MethodsThe SAAR algorithm utilizes an adaptive slope detection technique based on the sigmoid function, dynamically adjusting to local intensity features. This approach allows for greater adaptability to image variations. The algorithm prioritizes regions of interest through a multi-step adaptive process, enhancing intensity differences to focus on potential microcalcifications.ResultsTesting on established mammography databases, such as MIAS, demonstrates the algorithm's effectiveness, with improved sensitivity compared to conventional methods. Designed for edge devices, the algorithm leverages their real-time processing capabilities, offering lower latency and enhanced privacy.ConclusionsThe integration of SAAR with edge devices represents a promising advancement in breast cancer detection. The adaptive nature of SAAR, coupled with the real-time processing capabilities of edge devices, provides a robust solution for enhancing microcalcification detection efficiency and sensitivity in mammography.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261442665"},"PeriodicalIF":1.8,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147822559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validity and reliability of an automated fall risk assessment system using a depth camera in community-dwelling adults: A proof-of-concept pilot study. 在社区居住的成年人中使用深度相机的自动跌倒风险评估系统的有效性和可靠性:概念验证试点研究。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-28 DOI: 10.1177/09287329261445778
Sungbae Jo
{"title":"Validity and reliability of an automated fall risk assessment system using a depth camera in community-dwelling adults: A proof-of-concept pilot study.","authors":"Sungbae Jo","doi":"10.1177/09287329261445778","DOIUrl":"https://doi.org/10.1177/09287329261445778","url":null,"abstract":"<p><p>BackgroundClinical fall risk prediction often relies on subjective observation or simplistic metrics, despite the high costs associated with falls in older adults.ObjectiveThis proof-of-concept study evaluated the validity and reliability of a consumer-grade depth camera system as an objective alternative for automated fall risk assessment.MethodsThirty-nine community-dwelling adults performed Timed Up and Go (TUG), Five Times Sit-to-Stand (FTSS), and Tandem Stance (TST) tests. Concurrent measurements were taken by an automated depth camera and blinded physical therapists. Validity (concurrent, convergent, discriminative) and reliability were assessed.ResultsAutomated FTSS and TUG tests demonstrated strong concurrent validity with therapist measurements (r = 0.813 and 0.915) and high discriminative accuracy for fall history (AUC = 0.941 and 0.864). Depth camera-based FTSS vertical velocity was significantly lower in participants with a fall history (<i>p</i> < 0.001). TST sway metrics showed limited discriminative validity. The system showed good to excellent test-retest reliability. In an age-stratified analysis of older adults (≥65 years), AFTSS time and the AUC-weighted composite score demonstrated acceptable discrimination for retrospective fall history (AUC = 0.892 and 0.867, respectively)ConclusionsThe depth camera system showed promise as a valid and reliable tool for objective quantification of performance on fall-risk-related functional tests, particularly FTSS and TUG, when benchmarked against therapist-administered measurements. Discriminative findings against retrospective fall history should be interpreted as exploratory, and larger prospective studies are required before clinical screening thresholds can be recommended.Trial RegistrationClinicalTrials.gov (NCT06519864).</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261445778"},"PeriodicalIF":1.8,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A deep learning method for children's self-care problems classification using represent learning and focal loss. 一种基于表征学习和焦点缺失的儿童自我照顾问题深度学习分类方法。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-28 DOI: 10.1177/09287329261440741
Yang Yu, Yijia Tang, Xiaoyan Zhang, Tingyu Zhang, Jieqiong Liu
{"title":"A deep learning method for children's self-care problems classification using represent learning and focal loss.","authors":"Yang Yu, Yijia Tang, Xiaoyan Zhang, Tingyu Zhang, Jieqiong Liu","doi":"10.1177/09287329261440741","DOIUrl":"https://doi.org/10.1177/09287329261440741","url":null,"abstract":"<p><p>BackgroundAn accurate diagnosis of children's self-care problems significantly matters in the growth and development of children. However, various and extensive disorders make the self-care problems classification extremely complex and require much effort and time to solve.ObjectiveTo deal with the above challenge, a deep learning model is proposed to classify the children's self-care problems intelligently and precisely.MethodThe proposed deep learning model contains two sub-deep neural networks. The first sub-network employs a technology of representing learning named triplet loss. It aims to compress the dimensions of the feature of the children with self-care problems to extract the useful information and exclude the noise, in order to improve classification performance. The second sub-network utilizes a technology for handling the class imbalance problem called focal loss to further improve the classification accuracy.ResultThe experimental results show that the proposed deep learning model outperforms. The averages of accuracy, precision, recall, and F1 score can achieve 99.78%, 0.99, 0.99, and 0.99, respectively.ConclusionTo the best of our knowledge, the proposed method achieves state-of-the-art results. That can significantly support the rehabilitation and growth of children with self-care issues. Furthermore, this study also provides a demonstration and experience of the application of the deep learning model in the healthcare field.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261440741"},"PeriodicalIF":1.8,"publicationDate":"2026-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Introduction to the special issue on data-driven and translational approaches in biomedical engineering: From signal interpretation to rehabilitation technologies. 介绍生物医学工程中数据驱动和转化方法的特刊:从信号解释到康复技术。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-27 DOI: 10.1177/09287329261446025
Kristina Daunoravičienė, Julius Griškevičius
{"title":"Introduction to the special issue on data-driven and translational approaches in biomedical engineering: From signal interpretation to rehabilitation technologies.","authors":"Kristina Daunoravičienė, Julius Griškevičius","doi":"10.1177/09287329261446025","DOIUrl":"https://doi.org/10.1177/09287329261446025","url":null,"abstract":"","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261446025"},"PeriodicalIF":1.8,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effects of UDCA and probiotics on metabolic outcomes in type 2 diabetes patients on metformin: A randomized trial in Bosnia and Herzegovina. UDCA和益生菌对2型糖尿病患者二甲双胍代谢结局的影响:波斯尼亚和黑塞哥维那的一项随机试验
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-25 DOI: 10.1177/09287329261438698
Alma Badnjević-Čengić, Ranko Škrbić, Adna Softić, Tamer Bego, Neven Meseldžić, Nataša Stojaković, Neira Crnčević, Sara Deumić, Damira Kadić, Armin Mooraniana, Hani Al-Salami, Momir Mikov
{"title":"Effects of UDCA and probiotics on metabolic outcomes in type 2 diabetes patients on metformin: A randomized trial in Bosnia and Herzegovina.","authors":"Alma Badnjević-Čengić, Ranko Škrbić, Adna Softić, Tamer Bego, Neven Meseldžić, Nataša Stojaković, Neira Crnčević, Sara Deumić, Damira Kadić, Armin Mooraniana, Hani Al-Salami, Momir Mikov","doi":"10.1177/09287329261438698","DOIUrl":"https://doi.org/10.1177/09287329261438698","url":null,"abstract":"<p><p>BackgroundRecent research highlights the pivotal role of gut microbiota and bile acids as modulators of metabolic homeostasis in type 2 diabetes (T2D). The concomitant use of probiotics and ursodeoxycholic acid (UDCA) may potentiate glycemic and lipid control via complementary mechanisms.ObjectiveTo evaluate the metabolic effects of probiotic supplementation and its combination with UDCA in metformin-treated T2D patients.MethodsIn this monocentric, prospective, randomized, double-blind, controlled trial, 90 patients with T2D on metformin therapy were randomized into three groups: metformin-only (MG), metformin plus probiotic (MPG), and metformin plus probiotic plus UDCA (MPUG). The intervention lasted 4 weeks. Primary outcomes included changes in fasting glucose, postprandial glucose and HbA1c. Secondary outcomes included lipid profile, C-reactive protein (CRP), and fecal levels of probiotics and UDCA. Two visits were conducted during the study - at the beginning and at the end. Visits involved patient interviews, clinical data collection, anthropometric measurements, blood biochemical analyses, and stool sample analysis for the presence of probiotic culture and UDCA concentrations.ResultsAfter 4 weeks, the MPUG group showed a significant reduction in fasting glucose (-1.7 mmol/L; 95% CI: -2.2 to -1.2), postprandial glucose (-1.3 mmol/L; 95% CI: -1.8 to -0.7), and HbA1c (-0.49%; 95% CI: -0.66 to -0.31) compared to the MG group. Total cholesterol and LDL cholesterol were also significantly reduced, while HDL increased. The concentration of <i>Lactobacillus rhamnosus GG</i> was highest in the MPUG group. No serious adverse events were reported.ConclusionCo-administration of probiotics and UDCA for four weeks in metformin-treated T2D patients significantly improves short-term glycemic control and lipid profiles. These promising results warrant validation in larger, longer-term clinical trials.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261438698"},"PeriodicalIF":1.8,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Validation of the Adhesive Remnant Index (ARI) using quantitative 3D scanner analysis on in vitro samples. 利用三维扫描仪对体外样品进行定量分析,验证黏附残余指数(ARI)。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-24 DOI: 10.1177/09287329261436643
Joanna Janiszewska-Olszowska, Marta Mazur, Maciej Jedliński, Artnora Ndokaj, Luca Iuliano, Paolo Minetola, Roman Ardan, Gianna Maria Nardi
{"title":"Validation of the Adhesive Remnant Index (ARI) using quantitative 3D scanner analysis on <i>in vitro</i> samples.","authors":"Joanna Janiszewska-Olszowska, Marta Mazur, Maciej Jedliński, Artnora Ndokaj, Luca Iuliano, Paolo Minetola, Roman Ardan, Gianna Maria Nardi","doi":"10.1177/09287329261436643","DOIUrl":"https://doi.org/10.1177/09287329261436643","url":null,"abstract":"<p><p>BackgroundResidual adhesive left on enamel after orthodontic bracket removal can compromise aesthetics and enamel integrity. The Adhesive Remnant Index (ARI) is commonly used to visually assess these residues, but its correlation with true adhesive volume has not been quantitatively validated.ObjectiveThis study aimed to validate the visual ARI using 3D optical scanning and test the hypothesis of no correlation between ARI scores and adhesive remnant volumes.MethodsSeventy-five extracted human third molars were bonded with molar tubes using BrackFix Adhesive. After 24 h, tubes were debonded, and ARI scores (0-3) were assessed visually under 6.0× magnification. Residual adhesive was scanned pre- (T0) and post-debonding (T1) using a structured-light 3D scanner (ATOS Compact). Volumes were calculated and analyzed with Kendall's tau correlation.ResultsA strong correlation was found between ARI scores and adhesive remnant volumes (Kendall's τ = 0.649; p < 0.001). Median volumes increased with ARI scores: 0.048 mm<sup>3</sup> (score 0), 0.401 mm<sup>3</sup> (score 1), 1.025 mm<sup>3</sup> (score 2), and 2.893 mm<sup>3</sup> (score 3).ConclusionVisual ARI scores significantly reflect the actual adhesive remnant volume as quantified by 3D scanning, supporting ARI's clinical validity for assessing residual adhesive after debonding.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261436643"},"PeriodicalIF":1.8,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Engineering and experimental evaluation of a smart wireless glove for gamified upper limb rehabilitation in Parkinson's disease. 用于帕金森病游戏化上肢康复的智能无线手套的工程和实验评估。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-24 DOI: 10.1177/09287329261438652
Kotryna Vaišnoraitė, Justinas Višinskas, Adriano de O Andrade, Luanne C Mendes, Camille M Alves, Kristina Daunoravičienė, Vytautas Abromavičius, Jurgita Žižienė
{"title":"Engineering and experimental evaluation of a smart wireless glove for gamified upper limb rehabilitation in Parkinson's disease.","authors":"Kotryna Vaišnoraitė, Justinas Višinskas, Adriano de O Andrade, Luanne C Mendes, Camille M Alves, Kristina Daunoravičienė, Vytautas Abromavičius, Jurgita Žižienė","doi":"10.1177/09287329261438652","DOIUrl":"https://doi.org/10.1177/09287329261438652","url":null,"abstract":"<p><p>BackgroundUpper extremity rehabilitation is critical for individuals with neurological disorders such as Parkinson's disease, where motor impairments significantly affect daily functionality.ObjectiveThis study presents the design and prototyping of a novel rehabilitation glove aimed at improving hand and wrist motor recovery through gamified therapy.MethodsThe proposed glove features wireless communication via a Wi-Fi network, adaptability to various hand sizes, and an integrated strength training mechanism using resistance bands and metal hooks. The glove consists of a lightweight forearm frame, a palm component, and a textile glove with embedded mechanical connectors, all designed based on anthropometric data. 3D printing techniques were employed using PLA and flexible TPU materials to create a modular, low-cost, and comfortable structure. The system interfaces with an interactive game, allowing users to control an avatar (bee) through hand movements, promoting motivation and active engagement.ResultsThe prototype effectively addresses key limitations of previous rehabilitation systems, including mobility, comfort, adaptability, and functionality.ConclusionThe proposed rehabilitation glove offers a promising solution for home-based neurorehabilitation.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261438652"},"PeriodicalIF":1.8,"publicationDate":"2026-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of a new airway opening device with automatic position adjustment in bronchoscopy: A multicenter, prospective, open-label, and randomized controlled study. 一种新型自动位置调节气道开放装置在支气管镜检查中的应用:一项多中心、前瞻性、开放标签、随机对照研究。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-21 DOI: 10.1177/09287329261442664
Minyue Sun, Yaowen Zhang, Xiangmei Yang, Hongmei Chen, Luo Yan, Dongmei Li, Zeng Qing, Tan Li, Yishi Li, Yuguo Zhou, Mu Jiang
{"title":"Application of a new airway opening device with automatic position adjustment in bronchoscopy: A multicenter, prospective, open-label, and randomized controlled study.","authors":"Minyue Sun, Yaowen Zhang, Xiangmei Yang, Hongmei Chen, Luo Yan, Dongmei Li, Zeng Qing, Tan Li, Yishi Li, Yuguo Zhou, Mu Jiang","doi":"10.1177/09287329261442664","DOIUrl":"https://doi.org/10.1177/09287329261442664","url":null,"abstract":"<p><p>BackgroundAirway opening is crucial in management, and failure can lead to respiratory failure and death. Current manual methods have high failure rates, our team developed a device that automatically and precisely opens the patient's airway, replacing manual techniques.ObjectiveTo explore whether a new airway opening device with automatic position adjustment can effectively shorten the time for the tracheoscope to enter the airway while maintaining the airway open compared with the manual method of opening the airway.MethodsA multicenter, prospective, randomized controlled trial involved 400 adult patients undergoing bronchoscopy in three tertiary hospitals in China. Patients were randomly assigned to a control group using the head-up jaw lift method or to instrument test groups using the device at an angle of position (PA) of 90°, 95°, and 100°.ResultsA total of 357 patients completed the trial with a 100% success rate of bronchoscope entry. Median entry times for tracheoscope to enter the airway were 39.00 s for the control group, 33.00 s for PA 90° (P = 0.007), 31.00 s for PA 95° (P = 0.004), and 32.00 s for PA 100° (P = 0.005).ConclusionsThe new device can safely and effectively open the airway, shorten tracheoscope entry time, and maintain an open airway accurately.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261442664"},"PeriodicalIF":1.8,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The application of overlapping microwave ablation in liver tumor therapy: A review. 重叠微波消融在肝脏肿瘤治疗中的应用综述。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-16 DOI: 10.1177/09287329261436641
Qi Wang, Shuicai Wu, Yubo Zhang, Huijing He, Weiwei Wu, Hongjian Gao
{"title":"The application of overlapping microwave ablation in liver tumor therapy: A review.","authors":"Qi Wang, Shuicai Wu, Yubo Zhang, Huijing He, Weiwei Wu, Hongjian Gao","doi":"10.1177/09287329261436641","DOIUrl":"https://doi.org/10.1177/09287329261436641","url":null,"abstract":"<p><p>Overlapping microwave ablation has been widely used in treating large liver tumors, and more and more researchers are focusing on this therapy strategy to expand its clinical application. This paper reviewed the therapeutic schemes, simulation techniques, <i>in vitro</i> experimental results and coagulation zone evaluation techniques for large tumor overlapping microwave ablation, to evaluate the effectiveness of different multi-antenna treatment schemes. The prospect and challenge of overlapping microwave ablation in the clinical treatment of large tumors were further discussed.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261436641"},"PeriodicalIF":1.8,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of CNTNAP1 gene-related abnormality and literature review. CNTNAP1基因相关异常1例并文献复习。
IF 1.8 4区 医学
Technology and Health Care Pub Date : 2026-04-16 DOI: 10.1177/09287329261438651
Menghua Zhao, Li Huang, Furong Huang, Jun Xu, Wang Duane, Aimin Zhang
{"title":"A case of <i>CNTNAP1</i> gene-related abnormality and literature review.","authors":"Menghua Zhao, Li Huang, Furong Huang, Jun Xu, Wang Duane, Aimin Zhang","doi":"10.1177/09287329261438651","DOIUrl":"https://doi.org/10.1177/09287329261438651","url":null,"abstract":"<p><p>ObjectiveTo explore the clinical and genetic characteristics of CNTNAP1 gene-related Lethal Congenital Contracture Syndrome Type 7 (LCCS7) and Congenital Hypomyelinating Neuropathy Type 3 (CHN3).MethodsThe clinical data and genetic test results of one patient were retrospectively analyzed. This patient had CNTNAP1 gene-related LCCS7 and admitted to hospital in 2013. A literature review was also conducted by searching for the CNTNAP1 gene or \"Lethal Congenital Contracture Syndrome Type 7\" or \"Congenital Hypomyelinating Neuropathy Type 3\" in databases such as CNKI, Wanfang database and PubMed. The clinical and genetic characteristics of CNTNAP1-related LCCS7 and CHN3 diseases were summarized.ResultsThe proband was a female. Prenatal ultrasound showed polyhydramnios, few swallowing and respiratory movements, and a fixed fetal posture. She was born at 33 weeks due to premature rupture of membranes. After birth, she exhibited no cry, respiratory distress, and low muscle tone. She received a series of treatments in the obstetrics department, and was ultimately transferred to neonatology of our hospital due to \"respiratory distress in a premature infant.\" Since the fetus had abnormalities in utero, prenatal family exome sequencing was performed, which revealed two pathogenic mutations, c.1699G > T and c.789G > T, in the CNTNAP1 gene. c.1699G > T was inherited from the father, and c.789G > T was inherited from the mother, confirming compound heterozygosity. The infant died on the 13th day after premature birth. We retrieved 16 reports of CNTNAP1 gene-related LCCS7/CHN3 with 44 patients, and a total of 45 patients were analyzed combined with 1 case in this study. The main clinical manifestations included polyhydramnios (29 cases), fetal akinesia (12 cases), respiratory distress (35 cases), hypotonia (42 cases), hypomyelination (28 cases), and seizures (11 cases).Conclusionthe CNTNAP1 gene test can be considered for polyhydramnios, fetal akinesia, postnatal respiratory distress, hypotonia, and neurological abnormalities.</p>","PeriodicalId":48978,"journal":{"name":"Technology and Health Care","volume":" ","pages":"9287329261438651"},"PeriodicalIF":1.8,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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