E. Karatay, Ozlem Turkoglu, Abdulkadir Eren, M. Javadov
Hydatid cysts (HCs), which are among the cystic lesions of the liver, are frequently encountered in endemic areas. Routine imaging modalities are sometimes insufficient to differentiate HC types, and ultrasound (US) elastography has just begun to be used for this purpose. In this study, the effectiveness of the strain elastography (SE) method in preoperative HC cases was investigated, and the relationship between HC types and elastography values was evaluated. HC cases that underwent SE simultaneously with preoperative US between January 2019 and February 2021 were evaluated retrospectively, and 75 cases were included in the study. In addition to elastography data, cyst typing according to the World Health Organization (WHO) classification was also available. Thirty cases were male and 45 cases were female, the median age was 48 years, and the interquartile range was 41 years. According to the WHO classification, 15 cases were Type I, 27 cases were Type II, and 33 cases were Type III HC. Median strain ratio (SR) values were 5.69 (4.07–14.47) for Type I, median 1.49 (1.26–1.74) for Type II, and median 0.21 (0.13–0.30) for Type III, and there was a highly significant relationship between HC types and SR values (P < 0.001). There was also a very strong (-) directional correlation between HC type and strain rate (P < 0.001, Spemann rho (ρ): −0.928). US elastography is a new modality in the diagnosis of HC types, and there are few studies available. In this study, unlike the literature, it is the first time that HC typing and discrimination have been used using the SE technique, which is remarkable.
水瘤囊肿（HCs）是肝脏囊性病变的一种，在地方病流行地区经常出现。常规成像方法有时不足以区分水瘤囊肿的类型，而超声（US）弹性成像法刚刚开始用于这一目的。本研究调查了应变弹性成像（SE）方法在术前HC病例中的有效性，并评估了HC类型与弹性成像值之间的关系。 研究回顾性评估了2019年1月至2021年2月期间同时接受SE和术前US检查的HC病例，共纳入75例。除弹性成像数据外，还提供了根据世界卫生组织（WHO）分类的囊肿分型。 30例为男性，45例为女性，年龄中位数为48岁，四分位数范围为41岁。根据世界卫生组织的分类，15 例为 I 型，27 例为 II 型，33 例为 III 型 HC。I 型的中位应变比（SR）值为 5.69（4.07-14.47），II 型的中位应变比为 1.49（1.26-1.74），III 型的中位应变比为 0.21（0.13-0.30）。HC 类型与应变率之间也存在很强的 (-) 方向相关性（P < 0.001，Spemann rho (ρ)：-0.928). US 弹性成像技术是诊断 HC 类型的一种新方法，目前可用的研究很少。在本研究中，与文献不同的是，这是首次使用 SE 技术对 HC 进行分型和鉴别，这是非常了不起的。
{"title":"Evaluation of Usability and Efficacy of Strain Elastography Method Concurrently with Preoperative Ultrasonography in Cases of Hydatid Cyst","authors":"E. Karatay, Ozlem Turkoglu, Abdulkadir Eren, M. Javadov","doi":"10.4103/jmu.jmu_134_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_134_23","url":null,"abstract":"\u0000 \u0000 \u0000 Hydatid cysts (HCs), which are among the cystic lesions of the liver, are frequently encountered in endemic areas. Routine imaging modalities are sometimes insufficient to differentiate HC types, and ultrasound (US) elastography has just begun to be used for this purpose. In this study, the effectiveness of the strain elastography (SE) method in preoperative HC cases was investigated, and the relationship between HC types and elastography values was evaluated.\u0000 \u0000 \u0000 \u0000 HC cases that underwent SE simultaneously with preoperative US between January 2019 and February 2021 were evaluated retrospectively, and 75 cases were included in the study. In addition to elastography data, cyst typing according to the World Health Organization (WHO) classification was also available.\u0000 \u0000 \u0000 \u0000 Thirty cases were male and 45 cases were female, the median age was 48 years, and the interquartile range was 41 years. According to the WHO classification, 15 cases were Type I, 27 cases were Type II, and 33 cases were Type III HC. Median strain ratio (SR) values were 5.69 (4.07–14.47) for Type I, median 1.49 (1.26–1.74) for Type II, and median 0.21 (0.13–0.30) for Type III, and there was a highly significant relationship between HC types and SR values (P < 0.001). There was also a very strong (-) directional correlation between HC type and strain rate (P < 0.001, Spemann rho (ρ): −0.928).\u0000 \u0000 \u0000 \u0000 US elastography is a new modality in the diagnosis of HC types, and there are few studies available. In this study, unlike the literature, it is the first time that HC typing and discrimination have been used using the SE technique, which is remarkable.\u0000","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140258359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. Coelho, Fabiana Castro, Elisa Soares, Ana Sofia Portela Carvalho, J. Rocha, Carla Marinho, G. Rodrigues
{"title":"Rare Discordant Genetic and Structural Anomaly in Monochorionic Twins – A Challenging Approach","authors":"M. Coelho, Fabiana Castro, Elisa Soares, Ana Sofia Portela Carvalho, J. Rocha, Carla Marinho, G. Rodrigues","doi":"10.4103/jmu.jmu_75_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_75_23","url":null,"abstract":"","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140429221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria Rosa Pereira Martins, Juliana Assis Alves, Mayra Martins Melo, João Victor Jacomele Caldas, E. Araujo Júnior, Patrícia Soares Oliveira Szejnfeld, P. Castro, Heron Werner, L. Rolo
A congenital anomaly of the gallbladder called Phrygian cap occurs when an enlarged gallbladder presents a folded shape in the fundus along the body of the organ. The incidence in adults is about 4%. The diagnosis is usually incidental during abdominal imaging for other causes, but prenatal diagnosis of this condition is rare. In this report, two cases of prenatal diagnosis of Phrygian cap were performed using two-(2D) and three-dimensional (3D), magnetic resonance imaging, and 3D reconstructions.
{"title":"Prenatal Diagnosis of Phrygian Cap Gallbladder: Two- and Three-dimensional Ultrasound, Magnetic Resonance Imaging, and Three-dimensional Reconstructions","authors":"Maria Rosa Pereira Martins, Juliana Assis Alves, Mayra Martins Melo, João Victor Jacomele Caldas, E. Araujo Júnior, Patrícia Soares Oliveira Szejnfeld, P. Castro, Heron Werner, L. Rolo","doi":"10.4103/jmu.jmu_109_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_109_23","url":null,"abstract":"\u0000 A congenital anomaly of the gallbladder called Phrygian cap occurs when an enlarged gallbladder presents a folded shape in the fundus along the body of the organ. The incidence in adults is about 4%. The diagnosis is usually incidental during abdominal imaging for other causes, but prenatal diagnosis of this condition is rare. In this report, two cases of prenatal diagnosis of Phrygian cap were performed using two-(2D) and three-dimensional (3D), magnetic resonance imaging, and 3D reconstructions.","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140430898","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Antoniou, N. Evripidou, Anastasia Nikolaou, Andreas Georgiou, M. Giannakou, Antreas Chrysanthou, L. Georgiou, C. Ioannides, C. Damianou
The main goal of the study was to find the magnetic resonance imaging (MRI) parameters that optimize contrast between tissue and thermal lesions produced by focused ultrasound (FUS) using T1-weighted (T1-W) and T2-weighted (T2-W) fast spin echo (FSE) sequences. FUS sonications were performed in ex vivo porcine tissue using a single-element FUS transducer of 2.6 MHz in 1.5 and 3 T MRI scanners. The difference in relaxation times as well as the impact of critical MRI parameters on the resultant contrast-to-noise ratio (CNR) between coagulated and normal tissues were assessed. Discrete and overlapping lesions were inflicted in tissue with simultaneous acquisition of T2-W FSE images. FUS lesions are characterized by lower relaxation times than intact porcine tissue. CNR values above 80 were sufficient for proper lesion visualization. For T1-W imaging, repetition time values close to 1500 ms were considered optimum for obtaining sufficiently high CNR at the minimum time cost. Echo time values close to 50 ms offered the maximum lesion contrast in T2-W FSE imaging. Monitoring of acute FUS lesions during grid sonications was performed successfully. Lesions appeared as hypointense spots with excellent contrast from surrounding tissue. MRI monitoring of signal intensity changes during FUS sonication in grid patterns using optimized sequence parameters can provide useful information about lesion progression and the success of ablation. This preliminary study demonstrated the feasibility of the proposed monitoring method in ex vivo porcine tissue and should be supported by in vivo studies to assess its clinical potential.
{"title":"Magnetic Resonance Imaging Monitoring of Thermal Lesions Produced by Focused Ultrasound","authors":"A. Antoniou, N. Evripidou, Anastasia Nikolaou, Andreas Georgiou, M. Giannakou, Antreas Chrysanthou, L. Georgiou, C. Ioannides, C. Damianou","doi":"10.4103/jmu.jmu_112_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_112_23","url":null,"abstract":"\u0000 \u0000 \u0000 The main goal of the study was to find the magnetic resonance imaging (MRI) parameters that optimize contrast between tissue and thermal lesions produced by focused ultrasound (FUS) using T1-weighted (T1-W) and T2-weighted (T2-W) fast spin echo (FSE) sequences.\u0000 \u0000 \u0000 \u0000 FUS sonications were performed in ex vivo porcine tissue using a single-element FUS transducer of 2.6 MHz in 1.5 and 3 T MRI scanners. The difference in relaxation times as well as the impact of critical MRI parameters on the resultant contrast-to-noise ratio (CNR) between coagulated and normal tissues were assessed. Discrete and overlapping lesions were inflicted in tissue with simultaneous acquisition of T2-W FSE images.\u0000 \u0000 \u0000 \u0000 FUS lesions are characterized by lower relaxation times than intact porcine tissue. CNR values above 80 were sufficient for proper lesion visualization. For T1-W imaging, repetition time values close to 1500 ms were considered optimum for obtaining sufficiently high CNR at the minimum time cost. Echo time values close to 50 ms offered the maximum lesion contrast in T2-W FSE imaging. Monitoring of acute FUS lesions during grid sonications was performed successfully. Lesions appeared as hypointense spots with excellent contrast from surrounding tissue.\u0000 \u0000 \u0000 \u0000 MRI monitoring of signal intensity changes during FUS sonication in grid patterns using optimized sequence parameters can provide useful information about lesion progression and the success of ablation. This preliminary study demonstrated the feasibility of the proposed monitoring method in ex vivo porcine tissue and should be supported by in vivo studies to assess its clinical potential.\u0000","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140431601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muserref Gamze Patir, E. Guven, Mehmet Albayrak, Suleyman Guven
The effect of congenital cardiac malformation on fetal cerebral circulation has not been well known. This study aimed to compare the cerebral blood circulation of fetuses with congenital heart disease (CHD) with healthy fetuses. This prospective cohort study included 37 pregnant women who presented to the gynecology and obstetrics department of department of Farabi Hospital, Faculty of Medicine, Karadeniz Technical University for anomaly screening in the second trimester. The women were divided into two groups as those with fetuses having CHD and healthy fetuses. Middle cerebral artery (MCA), peak systolic velocity (PSV), pulsatility index (PI), resistivity index (RI), systole/diastole (S/D) ratio, and MCA transverse section diameter (mm) were recorded for each fetus. The most common CHDs were truncus arteriosus and hypoplastic left heart syndrome. The mean MCA PSV, resistivity index, and MDCA vessel diameter values were statistically significantly higher in the study group compared with fetuses without CHDs. The mean PI and systole/diastole ratio were statistically significantly lower in the study group than in the control group. This study reported that MCA PSV, RI, and vessel diameter were significantly higher and the S/D ratio and PI were significantly lower in fetuses with CHD compared to the healthy fetuses.
先天性心脏畸形对胎儿脑循环的影响尚不十分清楚。本研究旨在比较先天性心脏病（CHD）胎儿与健康胎儿的脑血液循环。 这项前瞻性队列研究包括 37 名在怀孕后三个月到卡拉德尼兹技术大学医学院法拉比医院妇产科接受异常筛查的孕妇。这些孕妇被分为两组，即患有先天性心脏病的胎儿组和健康胎儿组。记录了每个胎儿的大脑中动脉（MCA）、收缩峰值速度（PSV）、搏动指数（PI）、电阻率指数（RI）、收缩/舒张（S/D）比值和MCA横切面直径（毫米）。 最常见的先天性心脏病是动脉导管未闭和左心发育不全综合征。与无先天性心脏病的胎儿相比，研究组的平均 MCA PSV、电阻率指数和 MDCA 血管直径值在统计学上明显较高。研究组的平均 PI 值和收缩期/舒张期比率在统计学上明显低于对照组。 该研究报告指出，与健康胎儿相比，有心脏病的胎儿的 MCA PSV、RI 和血管直径明显较高，S/D 比值和 PI 则明显较低。
{"title":"Comparison of Cerebral Blood Circulation of Fetuses with Congenital Heart Disease with Healthy Fetuses","authors":"Muserref Gamze Patir, E. Guven, Mehmet Albayrak, Suleyman Guven","doi":"10.4103/jmu.jmu_66_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_66_23","url":null,"abstract":"\u0000 \u0000 \u0000 The effect of congenital cardiac malformation on fetal cerebral circulation has not been well known. This study aimed to compare the cerebral blood circulation of fetuses with congenital heart disease (CHD) with healthy fetuses.\u0000 \u0000 \u0000 \u0000 This prospective cohort study included 37 pregnant women who presented to the gynecology and obstetrics department of department of Farabi Hospital, Faculty of Medicine, Karadeniz Technical University for anomaly screening in the second trimester. The women were divided into two groups as those with fetuses having CHD and healthy fetuses. Middle cerebral artery (MCA), peak systolic velocity (PSV), pulsatility index (PI), resistivity index (RI), systole/diastole (S/D) ratio, and MCA transverse section diameter (mm) were recorded for each fetus.\u0000 \u0000 \u0000 \u0000 The most common CHDs were truncus arteriosus and hypoplastic left heart syndrome. The mean MCA PSV, resistivity index, and MDCA vessel diameter values were statistically significantly higher in the study group compared with fetuses without CHDs. The mean PI and systole/diastole ratio were statistically significantly lower in the study group than in the control group.\u0000 \u0000 \u0000 \u0000 This study reported that MCA PSV, RI, and vessel diameter were significantly higher and the S/D ratio and PI were significantly lower in fetuses with CHD compared to the healthy fetuses.\u0000","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140429836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohit Kaushal, Niranjan Sahu, Rajesh Pattanaik, Somadatta Das
Transcranial grayscale neurosonography (NSG) and Doppler studies have major role in diagnosing neonate intracranial pathologies. The aim of the study is to evaluate the role of NSG and Doppler studies in correlation with clinical hypotonia and seizures in preterm neonates and high-risk term neonates. The prevalence of intracranial pathology is the second aim of this study. The present cross-sectional study was done in a tertiary care teaching hospital for 2 years. The study population of 120 cases comprised two groups: one group of 60 preterm neonates and the other of 60 high-risk term neonates with a history of well-defined episode of fetal distress. The NSG and Doppler findings (resistance index ≤0.62 is the optimum cutoff point for diagnosing perinatal asphyxia) are recorded. The sensitivity and specificity values for the NSG study alone, the Doppler study alone, and the combined NSG and Doppler studies are calculated. The majority (46%) of preterm neonates had presented with germinal matrix hemorrhage, whereas a majority (46%) of high-risk term neonates had presented with periventricular and subcortical cysts. Comparison of the sensitivity of NSG versus Doppler versus combined NSG and Doppler in evaluating hypotonia and seizures in preterm (P = 0.0442) and high-risk term neonates (P = 0.0399) was significant. NSG combined with the Doppler study has significantly higher sensitivity than NSG alone in both groups. The specificity of the Doppler study is also high in both groups. Thus, it is strongly recommended to include Doppler during every NSG study to increase the detection rate.
{"title":"Role of Transcranial Ultrasound and Doppler Studies to Evaluate Intracranial Pathologies in Preterm and High-risk Term Neonates","authors":"Mohit Kaushal, Niranjan Sahu, Rajesh Pattanaik, Somadatta Das","doi":"10.4103/jmu.jmu_72_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_72_23","url":null,"abstract":"\u0000 \u0000 \u0000 Transcranial grayscale neurosonography (NSG) and Doppler studies have major role in diagnosing neonate intracranial pathologies. The aim of the study is to evaluate the role of NSG and Doppler studies in correlation with clinical hypotonia and seizures in preterm neonates and high-risk term neonates. The prevalence of intracranial pathology is the second aim of this study.\u0000 \u0000 \u0000 \u0000 The present cross-sectional study was done in a tertiary care teaching hospital for 2 years. The study population of 120 cases comprised two groups: one group of 60 preterm neonates and the other of 60 high-risk term neonates with a history of well-defined episode of fetal distress. The NSG and Doppler findings (resistance index ≤0.62 is the optimum cutoff point for diagnosing perinatal asphyxia) are recorded. The sensitivity and specificity values for the NSG study alone, the Doppler study alone, and the combined NSG and Doppler studies are calculated.\u0000 \u0000 \u0000 \u0000 The majority (46%) of preterm neonates had presented with germinal matrix hemorrhage, whereas a majority (46%) of high-risk term neonates had presented with periventricular and subcortical cysts. Comparison of the sensitivity of NSG versus Doppler versus combined NSG and Doppler in evaluating hypotonia and seizures in preterm (P = 0.0442) and high-risk term neonates (P = 0.0399) was significant.\u0000 \u0000 \u0000 \u0000 NSG combined with the Doppler study has significantly higher sensitivity than NSG alone in both groups. The specificity of the Doppler study is also high in both groups. Thus, it is strongly recommended to include Doppler during every NSG study to increase the detection rate.\u0000","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139963356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Association of Fetal Umbilical–portal–systemic Venous Shunts and Genetic Variants: Another Case Report","authors":"L. Zhen, Dongyu Li","doi":"10.4103/jmu.jmu_126_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_126_23","url":null,"abstract":"","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139963578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yen-Chun Chen, Hann-Ziong Yueh, Shih-Chun Lu, Che-Hsuan Lin
Sialolith-induced obstructive sialadenitis is a commonly encountered clinical scenario, yet the variations in the size and location of the stone can complicate immediate clinical assessment. Utilizing dynamic ultrasound imaging along with specific structural markers can provide valuable, immediate objective evidence in diagnosing submandibular sialolithiasis. This initial ultrasound evaluation streamlines the decision-making process by facilitating the timely scheduling of confirmatory computed tomography scans and guiding subsequent surgical interventions. This case report illustrates how in-office ultrasonography expedited the diagnosis and subsequent surgical decision-making process for submandibular sialolithiasis within a span of just 1 week.
{"title":"The Role of Ultrasonography in Diagnosing and Managing Sialolithiasis: A Case Report and Literature Review","authors":"Yen-Chun Chen, Hann-Ziong Yueh, Shih-Chun Lu, Che-Hsuan Lin","doi":"10.4103/jmu.jmu_120_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_120_23","url":null,"abstract":"\u0000 Sialolith-induced obstructive sialadenitis is a commonly encountered clinical scenario, yet the variations in the size and location of the stone can complicate immediate clinical assessment. Utilizing dynamic ultrasound imaging along with specific structural markers can provide valuable, immediate objective evidence in diagnosing submandibular sialolithiasis. This initial ultrasound evaluation streamlines the decision-making process by facilitating the timely scheduling of confirmatory computed tomography scans and guiding subsequent surgical interventions. This case report illustrates how in-office ultrasonography expedited the diagnosis and subsequent surgical decision-making process for submandibular sialolithiasis within a span of just 1 week.","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139872816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by various genetic or epigenetic alterations involving growth regulatory genes located on chromosome 11p15.5 region. Conventionally, most cases of BWS are diagnosed during the neonatal period or early childhood. Early prenatal diagnosis is very important because it provides information regarding the prognosis, guidance of delivery preparation, and postnatal care plan. We report two cases of BWS diagnosed in utero using exome sequencing (ES) after the early identification of fetal omphalocele and normal findings of microarray and methylation analyses. Case 1 carried a de novo CDKN1C c.694C>T (p.Gln232*) variant. Case 2 carried a familial CDKN1C c.827_828delinsAA (p.Phe276*) variant; another member in the family presented with features of BWS. In both cases, no macrosomia and visceromegaly were demonstrated. Although fetal omphalocele was identified in the first trimester, invasive testing was delayed to the early second trimester for methylation in the two cases. Fetal omphalocele should not be regarded as just an abdominal wall defect. When a fetal omphalocele was identified, a detailed family history, especially with searching for the signs of BWS in familial members, should be undertaken. For an omphalocele, ES is an option for patients after normal microarray and methylation analyses.
{"title":"Beckwith–Wiedemann Syndrome Diagnosed in the Early Second Trimester in Two Fetuses with Isolated Omphalocele","authors":"Yan-Dong Yang, Dong-Zhi Li","doi":"10.4103/jmu.jmu_95_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_95_23","url":null,"abstract":"\u0000 Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder caused by various genetic or epigenetic alterations involving growth regulatory genes located on chromosome 11p15.5 region. Conventionally, most cases of BWS are diagnosed during the neonatal period or early childhood. Early prenatal diagnosis is very important because it provides information regarding the prognosis, guidance of delivery preparation, and postnatal care plan. We report two cases of BWS diagnosed in utero using exome sequencing (ES) after the early identification of fetal omphalocele and normal findings of microarray and methylation analyses. Case 1 carried a de novo CDKN1C c.694C>T (p.Gln232*) variant. Case 2 carried a familial CDKN1C c.827_828delinsAA (p.Phe276*) variant; another member in the family presented with features of BWS. In both cases, no macrosomia and visceromegaly were demonstrated. Although fetal omphalocele was identified in the first trimester, invasive testing was delayed to the early second trimester for methylation in the two cases. Fetal omphalocele should not be regarded as just an abdominal wall defect. When a fetal omphalocele was identified, a detailed family history, especially with searching for the signs of BWS in familial members, should be undertaken. For an omphalocele, ES is an option for patients after normal microarray and methylation analyses.","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139688039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yen-Chun Chen, Hann-Ziong Yueh, Shih-Chun Lu, Che-Hsuan Lin
Sialolith-induced obstructive sialadenitis is a commonly encountered clinical scenario, yet the variations in the size and location of the stone can complicate immediate clinical assessment. Utilizing dynamic ultrasound imaging along with specific structural markers can provide valuable, immediate objective evidence in diagnosing submandibular sialolithiasis. This initial ultrasound evaluation streamlines the decision-making process by facilitating the timely scheduling of confirmatory computed tomography scans and guiding subsequent surgical interventions. This case report illustrates how in-office ultrasonography expedited the diagnosis and subsequent surgical decision-making process for submandibular sialolithiasis within a span of just 1 week.
{"title":"The Role of Ultrasonography in Diagnosing and Managing Sialolithiasis: A Case Report and Literature Review","authors":"Yen-Chun Chen, Hann-Ziong Yueh, Shih-Chun Lu, Che-Hsuan Lin","doi":"10.4103/jmu.jmu_120_23","DOIUrl":"https://doi.org/10.4103/jmu.jmu_120_23","url":null,"abstract":"\u0000 Sialolith-induced obstructive sialadenitis is a commonly encountered clinical scenario, yet the variations in the size and location of the stone can complicate immediate clinical assessment. Utilizing dynamic ultrasound imaging along with specific structural markers can provide valuable, immediate objective evidence in diagnosing submandibular sialolithiasis. This initial ultrasound evaluation streamlines the decision-making process by facilitating the timely scheduling of confirmatory computed tomography scans and guiding subsequent surgical interventions. This case report illustrates how in-office ultrasonography expedited the diagnosis and subsequent surgical decision-making process for submandibular sialolithiasis within a span of just 1 week.","PeriodicalId":45466,"journal":{"name":"Journal of Medical Ultrasound","volume":null,"pages":null},"PeriodicalIF":1.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139813084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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