Journal of Clinical Ultrasound最新文献

筛选
英文 中文
Correlation Between RVOT VTI Measured via a Modified Subcostal View and LVOT VTI in Critically Ill Patients 危重患者改良肋下位镜测量RVOT VTI与LVOT VTI的相关性
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-06 Epub Date: 2026-05-28 DOI: 10.1002/jcu.70280
Issac Cheong, Matías Brizuela, Francisco Marcelo Tamagnone, Pablo Martín Merlo
{"title":"Correlation Between RVOT VTI Measured via a Modified Subcostal View and LVOT VTI in Critically Ill Patients","authors":"Issac Cheong,&nbsp;Matías Brizuela,&nbsp;Francisco Marcelo Tamagnone,&nbsp;Pablo Martín Merlo","doi":"10.1002/jcu.70280","DOIUrl":"10.1002/jcu.70280","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Assessment of cardiac output by transthoracic echocardiography in critically ill patients commonly relies on measurement of the left ventricular outflow tract velocity-time integral (LVOT VTI). However, obtaining an adequate apical view is not always possible in the intensive care unit. We evaluated whether right ventricular outflow tract velocity-time integral (RVOT VTI), obtained from a modified subcostal view, correlates with LVOT VTI and whether it can identify patients with normal LVOT VTI values.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a post hoc analysis of a prospective diagnostic accuracy study performed in two mixed medical-surgical intensive care units. Adult patients admitted between January and April 2022 were included when both RVOT and LVOT Doppler measurements were feasible. RVOT VTI was measured using a modified subcostal approach, whereas LVOT VTI was obtained from the apical five-chamber view.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-three patients were analyzed. RVOT VTI showed a strong positive correlation with LVOT VTI (Spearman <i>r</i> = 0.72, <i>p</i> &lt; 0.0001). Bland–Altman analysis demonstrated a mean bias of −4.3 cm, with wide limits of agreement (−11.6 to +2.9 cm). The area under the receiver operating characteristic curve for predicting an LVOT VTI ≥ 17 cm was 0.934 (95% CI 0.815–0.970). An RVOT VTI &gt; 14.6 cm predicted LVOT VTI ≥ 17 cm with 80.7% sensitivity (95% CI 62.5%–92.5%) and 100% specificity (95% CI 73.5%–100%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>RVOT VTI measured from a modified subcostal view may be a useful alternative when standard LVOT VTI assessment cannot be obtained in critically ill patients. Although both measurements should not be considered interchangeable, RVOT VTI may help identify normal forward flow and follow hemodynamic changes at the bedside.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":"54 8","pages":"1854-1859"},"PeriodicalIF":1.3,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148054799","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
Frontal Anteroposterior Diameter and Derived Ratios Between 18 and 38 Weeks: Normative Curves for Fetal Neurosonography 18 - 38周胎儿神经声像图的标准曲线。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-06 Epub Date: 2026-06-10 DOI: 10.1002/jcu.70299
Daniela Rocha Ramos, Olívia de Mendonça e Morais, Nicoly de Oliveira, Liliam Cristine Rolo, Edward Araujo Júnior, Gustavo Yano Callado, Gabriele Tonni, Alberto Borges Peixoto
{"title":"Frontal Anteroposterior Diameter and Derived Ratios Between 18 and 38 Weeks: Normative Curves for Fetal Neurosonography","authors":"Daniela Rocha Ramos,&nbsp;Olívia de Mendonça e Morais,&nbsp;Nicoly de Oliveira,&nbsp;Liliam Cristine Rolo,&nbsp;Edward Araujo Júnior,&nbsp;Gustavo Yano Callado,&nbsp;Gabriele Tonni,&nbsp;Alberto Borges Peixoto","doi":"10.1002/jcu.70299","DOIUrl":"10.1002/jcu.70299","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To establish gestational age-specific reference curves for the frontal anteroposterior diameter (FAPD) and its derived ratios—FAPD to occipitofrontal diameter (FAPD/OFD), FAPD to head circumference (FAPD/HC), and FAPD to transverse cerebellar diameter (FAPD/TCD)—in structurally normal fetuses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a retrospective, cross-sectional study conducted in three fetal medicine centers in Brazil. Ultrasound images of 495 structurally normal singleton fetuses between 18 and 38 weeks of gestation were analyzed. FAPD was measured in the transventricular plane, and the FAPD/OFD, FAPD/HC, and FAPD/TCD ratios were calculated. Polynomial regression models were used to construct reference curves and percentiles. Correlations between biometric parameters and gestational age were assessed using Pearson or Spearman coefficients, as appropriate.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A strong and statistically significant positive correlation was observed between FAPD and gestational age (<i>r</i> = 0.93, <i>p</i> &lt; 0.001; <i>R</i><sup>2</sup> = 0.87), with an average increase of 1.215 mm per week. The FAPD/OFD and FAPD/HC ratios remained relatively stable across gestation, showing no significant correlation. In contrast, a moderate and significant inverse correlation was found between FAPD/TCD and gestational age (<i>r</i> = −0.64, <i>p</i> &lt; 0.0001; <i>R</i><sup>2</sup> = 0.41). Reference values for the 5th, 50th, and 95th percentiles were established for all parameters throughout the studied gestational range.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The reference curves developed for FAPD and its derived ratios reflect normative frontal lobe growth patterns and provide a reliable framework for prenatal ultrasonographic assessment. The stability of FAPD/OFD and FAPD/HC, combined with the gestational decline in FAPD/TCD, underscores the importance of region-specific brain measurements. These curves may aid in the early detection of atypical neurodevelopment and support future population-specific research.</p>\u0000 </section>\u0000 </div>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":"54 8","pages":"1894-1903"},"PeriodicalIF":1.3,"publicationDate":"2026-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148218130","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 Effectiveness of a First-Trimester Combined Screening Model for Risk Stratification of Preeclampsia (PE). 早期妊娠联合筛查模型对子痫前期(PE)风险分层的有效性。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-05 DOI: 10.1002/jcu.70413
Narayanasamy Saranya, Vellathussery Chakkalakkoombil Sunitha, Bobby Zachariah, Gowda Mamtha
{"title":"The Effectiveness of a First-Trimester Combined Screening Model for Risk Stratification of Preeclampsia (PE).","authors":"Narayanasamy Saranya, Vellathussery Chakkalakkoombil Sunitha, Bobby Zachariah, Gowda Mamtha","doi":"10.1002/jcu.70413","DOIUrl":"https://doi.org/10.1002/jcu.70413","url":null,"abstract":"<p><strong>Aim: </strong>To ascertain the effectiveness of a first-trimester combined screening model for risk stratification of preeclampsia (PE) in a south Indian population.</p><p><strong>Methods: </strong>One hundred and sixty pregnant women were screened at 11-14 gestation weeks with routine antenatal ultrasound, mean uterine artery pulsatility index (UtA PI), mean arterial blood pressure (MAP), and serum placental growth factor (PlGF) assessments. Sensitivity, specificity, area under the receiver operator characteristic (AUC) curves, and diagnostic accuracy were ascertained for 1 in 50, 1 in 100, and 1 in 150 cutoff criteria.</p><p><strong>Results: </strong>PE and gestational hypertension developed in 18 (11.6%, 95% CI: 7.47-19.67) and 10 (6.5%, 95% CI: 3.54-11.74) screened women, respectively. The first-trimester combined screening model identified 26 (16.77%), 34 (21.94%), and 38 (24.52%) screen-positive women using a 1 in 50, 1 in 100, and 1 in 150 cut-offs, respectively and had an AUC of 0.85 (95% CI: 0.76, 0.93). The detection rates, AUC, and odds ratio were higher with the 1 in 150 cut-off criteria than the 1 in 100 or 1 in 50 cut-off, but there was a slight decrease in the specificity and diagnostic accuracy.</p><p><strong>Conclusion: </strong>The first-trimester combined screening model at 11-14 weeks differentiated pregnant women at high risk for preterm PE in this population. A risk stratification cutoff of 1 in 150 had a better AUC than a 1 in 100 or 1 in 50 cutoff.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110228","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
Reference Values for the Fetal Maxilla-Nasion-Mandible (MNM) Angle Measured by Two-Dimensional Ultrasound at 11 + 0 to 13 + 6 Weeks of Gestation. 妊娠11 + 0 ~ 13 + 6周二维超声测量胎儿上鼻下颌骨(MNM)角度的参考值。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-05 DOI: 10.1002/jcu.70411
Saulo Molina-Giraldo, Daniel Hernán Santana, Camilo Torres, Diana Zárate, María Lourdes Carrillo, Diana Diaz, Jose Luis Duque
{"title":"Reference Values for the Fetal Maxilla-Nasion-Mandible (MNM) Angle Measured by Two-Dimensional Ultrasound at 11 + 0 to 13 + 6 Weeks of Gestation.","authors":"Saulo Molina-Giraldo, Daniel Hernán Santana, Camilo Torres, Diana Zárate, María Lourdes Carrillo, Diana Diaz, Jose Luis Duque","doi":"10.1002/jcu.70411","DOIUrl":"https://doi.org/10.1002/jcu.70411","url":null,"abstract":"<p><strong>Background: </strong>First-trimester ultrasound is a key component of the early assessment of fetal craniofacial anatomy. The fetal maxilla-nasion-mandible (MNM) angle has been proposed as an objective parameter for evaluating the fetal facial profile. However, reference values for this measurement during the first trimester remain limited, particularly across different populations.</p><p><strong>Objective: </strong>To establish reference values for the fetal maxilla-nasion-mandible (MNM) angle in structurally normal singleton fetuses undergoing first-trimester ultrasound screening between 11 + 0 and 13 + 6 weeks of gestation.</p><p><strong>Methods: </strong>This retrospective cross-sectional study included consecutive singleton pregnancies with structurally normal fetuses undergoing routine first-trimester ultrasound screening between 11 + 0 and 13 + 6 weeks of gestation. The MNM angle was measured in a standardized midsagittal plane using two-dimensional ultrasound. Fetuses with a crown-rump length of 45-84 mm and normal prenatal and postnatal outcomes were included in the reference population.</p><p><strong>Results: </strong>A total of 273 fetuses were included. The mean MNM angle was 11°. No correlation was found between the MNM angle and biparietal diameter (p = 0.263), abdominal circumference (p = 0.0700), or gestational age (p = 0.533). Conversely, significant correlations were observed with head circumference (p < 0.001), femur length (p = 0.001), and the frontomaxillary facial angle (FMFA) (p = 0.001).</p><p><strong>Conclusion: </strong>Measurement of the fetal MNM angle by two-dimensional ultrasound between 11 + 0 and 13 + 6 weeks of gestation is feasible. The reference values established in this study provide a foundation for future prospective studies evaluating the potential clinical applicability of this parameter in fetuses with craniofacial abnormalities.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2026-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110264","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
Primary Hepatic Gastrointestinal Stromal Tumor: A Case Report. 原发性肝胃肠道间质瘤1例报告。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-02 DOI: 10.1002/jcu.70420
Jia-Le Zhu, Ming Yu, Juan Li, Hao-Cheng Qin
{"title":"Primary Hepatic Gastrointestinal Stromal Tumor: A Case Report.","authors":"Jia-Le Zhu, Ming Yu, Juan Li, Hao-Cheng Qin","doi":"10.1002/jcu.70420","DOIUrl":"https://doi.org/10.1002/jcu.70420","url":null,"abstract":"<p><p>A primary hepatic gastrointestinal stromal tumor presenting with fever, initially misdiagnosed as liver abscess and drained was ultimately confirmed by pathology.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110222","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 Role of Umbilicocerebral Ratio and Cerebroplacental Ratio in Predicting Adverse Perinatal Outcomes in Women Undergoing Labor Induction. 脐脑比和脑胎盘比在预测引产妇女不良围产期结局中的作用。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-02 DOI: 10.1002/jcu.70417
Süleyman Serkan Karaşin, Bilal Efe, Elif Güler Kazanci
{"title":"The Role of Umbilicocerebral Ratio and Cerebroplacental Ratio in Predicting Adverse Perinatal Outcomes in Women Undergoing Labor Induction.","authors":"Süleyman Serkan Karaşin, Bilal Efe, Elif Güler Kazanci","doi":"10.1002/jcu.70417","DOIUrl":"https://doi.org/10.1002/jcu.70417","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the predictive value and clinical significance of pre-induction Doppler blood flow parameters of the umbilical artery (UA) and middle cerebral artery (MCA), as well as cerebroplacental ratio (CPR), and umbilicocerebral ratio (UCR) for fetal distress during labor induction.</p><p><strong>Methods: </strong>This prospective study evaluated women at term undergoing labor induction using pre-induction Doppler ultrasonography. Following the fetal distress diagnostic criteria, they were divided into two groups as the fetal distress group (n = 225) and the control group (n = 304) who underwent vaginal delivery. Parameters between the groups were compared; binary logistic regression was applied, and receiver operator characteristic (ROC) curve analysis was performed on the middle cerebral artery flow value.</p><p><strong>Results: </strong>In the fetal distress group, the PI values and Z-score of the umbilical artery and umbilicocerebral ratio exceeded those in the control group, and the PI values and Z-score of the middle cerebral artery and cerebroplacental ratio were lower than those in the control group. An MCA PI cutoff value of 1.44 demonstrated 88.9% sensitivity and 80% specificity for predicting fetal distress.</p><p><strong>Conclusion: </strong>Umbilical artery and middle cerebral artery PI values may serve as useful parameters in the assessment of fetal distress.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2026-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149110310","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
Multiple Cervical Vagus Nerve Schwannomas Masquerading as Abnormal Lymph Nodes in Sonography: A Case Report. 多发性颈迷走神经神经鞘瘤在超声检查中伪装成异常淋巴结1例。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-01 Epub Date: 2026-06-04 DOI: 10.1002/jcu.70289
Shanyong Mao, Linjie Gong, Shibin Zou, Kunming Pu
{"title":"Multiple Cervical Vagus Nerve Schwannomas Masquerading as Abnormal Lymph Nodes in Sonography: A Case Report.","authors":"Shanyong Mao, Linjie Gong, Shibin Zou, Kunming Pu","doi":"10.1002/jcu.70289","DOIUrl":"10.1002/jcu.70289","url":null,"abstract":"<p><p>Schwannoma originating from the cervical vagus nerve is a relatively rare benign tumor. It may present as multiple fused lesions with a string-of-beads appearance and remain clinically asymptomatic. Here, we report a rare case of multiple cervical vagus nerve schwannomas in a middle-aged female patient. The lesion was preoperatively misdiagnosed as abnormal lymph nodes and ultimately confirmed by postoperative pathological sections. This case presents the distinctive ultrasonic features of cervical vagus nerve schwannoma and enriches the existing literature. In addition, analysis of the misdiagnosis causes helps improve the diagnostic accuracy of ultrasonography for cervical schwannoma.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":"2049-2054"},"PeriodicalIF":1.3,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148163296","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
Giant Intrathyroidal Parathyroid Carcinoma Presenting as an Asymptomatic Hypercalcemia: A Case Report and Literature Review. 巨大甲状旁腺癌表现为无症状高钙血症:1例报告及文献复习。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-01 Epub Date: 2026-05-27 DOI: 10.1002/jcu.70277
Ran Zheng, Jing Li, Tiantian Dong, Tingting Yu, Shaoce Xu, Fang Nie
{"title":"Giant Intrathyroidal Parathyroid Carcinoma Presenting as an Asymptomatic Hypercalcemia: A Case Report and Literature Review.","authors":"Ran Zheng, Jing Li, Tiantian Dong, Tingting Yu, Shaoce Xu, Fang Nie","doi":"10.1002/jcu.70277","DOIUrl":"10.1002/jcu.70277","url":null,"abstract":"<p><p>Parathyroid carcinoma (PC) is a rare endocrine malignancy characterized by uncontrolled secretion of parathyroid hormone (PTH). This article presents a case of a giant PC that was entirely located within the thyroid gland and was initially misdiagnosed as a thyroid nodule. Our case is noteworthy for the absence of clinical symptoms and the markedly elevated serum calcium and PTH levels. We provide a detailed description of the patient's imaging findings and systematically review the diagnostic and therapeutic modalities of PC.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":"2033-2040"},"PeriodicalIF":1.3,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148042381","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
Prenatal Ultrasonographic Detection of Bilateral Congenital Cataracts With Concurrent Mosaic Turner Syndrome: A Case Report. 双侧先天性白内障并发马赛克特纳综合征的产前超声检查1例。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-01 Epub Date: 2026-06-05 DOI: 10.1002/jcu.70295
Cagseli Goksu Ozgun Selcuk, Filiz Yarsilikal Guleroglu
{"title":"Prenatal Ultrasonographic Detection of Bilateral Congenital Cataracts With Concurrent Mosaic Turner Syndrome: A Case Report.","authors":"Cagseli Goksu Ozgun Selcuk, Filiz Yarsilikal Guleroglu","doi":"10.1002/jcu.70295","DOIUrl":"10.1002/jcu.70295","url":null,"abstract":"<p><p>We report bilateral congenital cataracts diagnosed prenatally at 22 weeks gestation in a woman with personal cataract history. Prenatal ultrasound revealed asymmetric bilateral lens opacities with complete hyperechogenicity in the right eye and punctate hyperechoic foci in the left eye. Clinical exome sequencing identified a heterozygous frameshift variant c.2604_2605del p.(Thr870PhefsTer46) in the BCOR gene, classified as likely pathogenic with postnatal confirmation. Notably, postnatal genetic analysis revealed mosaic Turner syndrome (mos 46,X,+mar[13]/46,XX[37]), representing a rare concurrent finding. The infant underwent successful bilateral cataract extraction at 1 month. This case demonstrates the value of comprehensive genetic evaluation in prenatal ocular anomaly diagnosis and highlights the emerging recognition of dual molecular diagnoses in clinical genetics.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":"2055-2060"},"PeriodicalIF":1.3,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148176091","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
Multimodal Imaging Combined With 3D Printing: A Novel Diagnostic Approach to Berry Syndrome. 多模态成像结合3D打印:一种新的诊断方法,以Berry综合征。
IF 1.3 4区 医学
Journal of Clinical Ultrasound Pub Date : 2026-10-01 Epub Date: 2026-08-16 DOI: 10.1002/jcu.70361
Chen Chen, Juan Xia, Xiaojing Ma, Yafeng He, Junyi Gao, Qian Song
{"title":"Multimodal Imaging Combined With 3D Printing: A Novel Diagnostic Approach to Berry Syndrome.","authors":"Chen Chen, Juan Xia, Xiaojing Ma, Yafeng He, Junyi Gao, Qian Song","doi":"10.1002/jcu.70361","DOIUrl":"10.1002/jcu.70361","url":null,"abstract":"<p><p>A 2-year-old boy initially misdiagnosed with dextro-Transposition of the Great Arteries (d-TGA) was accurately diagnosed with Berry syndrome-an extremely rare congenital heart defect-using multimodal imaging and 3D printing. Echocardiography and CTA revealed aortopulmonary window, anomalous origin of the right pulmonary artery, type A aortic arch interruption, and patent ductus arteriosus. A patient-specific 3D-printed model from CTA data significantly enhanced visualization of complex vascular anatomy. This case highlights the value of combining multimodal imaging and 3D printing for diagnosing Berry syndrome and improving surgical planning for complex congenital heart defects.</p>","PeriodicalId":15386,"journal":{"name":"Journal of Clinical Ultrasound","volume":" ","pages":"2007-2010"},"PeriodicalIF":1.3,"publicationDate":"2026-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148764896","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书