Congenital Anomalies最新文献_第9页

Preoperative MRI presentations of Herlyn–Werner–Wunderlich syndrome herlin - werner - wunderlich综合征的术前MRI表现

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12489

Heng Zhang, Ying Zheng, Gang Ning, Chuan Fu, Li Bao

引用次数: 1

Congenital cytomegalovirus infection with brainstem hemorrhage and polymicrogyria: Necropsic and histopathological findings 先天性巨细胞病毒感染合并脑干出血和多小回畸形:坏死和组织病理学结果

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12488

Javier Arredondo Montero, Mónica Bronte Anaut, María Cristina Caballero Martínez, Maria Pilar Fernández Seara, Nerea Martín-Calvo

引用次数: 0

Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report 胎儿MRI显示卡罗里综合征伴常染色体隐性多囊肾病1例

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12490

Vanita Baberwal, Anjali Prakash, Anju Garg, Sapna Singh, Sangeeta Gupta

{"title":"Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report","authors":"Vanita Baberwal, Anjali Prakash, Anju Garg, Sapna Singh, Sangeeta Gupta","doi":"10.1111/cga.12490","DOIUrl":"10.1111/cga.12490","url":null,"abstract":"A 21-year-old pregnant woman (gravida 1, abortion 0) with a his-tory of acrocyanosis and raised AST/ALT was referred for ultrasound assessment. The gestational age was 32 weeks according to LMP and 31 weeks 2 days as per biometry. USG revealed severe oligohydramnios with enlarged and echogenic bilateral kidneys (Figure 1A). The urinary bladder was not visualized. Fetal liver showed a single small cystic structure in the right lobe of the liver (Figure 1B). The fetal MRI was done after 2 days of ultrasound examination on 3T system to further evaluate. Sequences used were ultrafast T1 and T2 (VIBE and HASTE, respectively). MRI dem-onstrated single intrauterine fetus in breech presentation with severe oligohydramnios. Bilateral kidneys were grossly enlarged and showed increased T2 signal intensity with few cysts (Figure 1C). The urinary bladder was not seen. The liver was normal in size and showed tubular and cystic dilatation of intrahepatic biliary channels with most of them showing “ central dot sign ” (Figure 1D). Both fetal lungs showed low signal intensity (Figure 1D). The fetal spleen was normal in size. The fetal MRI findings were suggestive of Caroli's syndrome with ARPKD and bilateral pulmonary hypoplasia. The baby","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 6","pages":"256-257"},"PeriodicalIF":1.3,"publicationDate":"2022-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10476113","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

Antenatal diagnosis of congenital surgical anomalies: A call for wider use in low- and middle-income countries 先天性手术异常的产前诊断:呼吁在低收入和中等收入国家更广泛地使用

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-08-08 DOI: 10.1111/cga.12485

Nilesh Tank, Benjamin Martin, Naomi Wright, Global Initiatives for Children's Surgery: Birth Defect Group, Tahmina Banu, Kokila Lakhoo

引用次数: 0

Two cases of 22q11.2 deletion syndrome with decreased serum calcium during recovery following thyrotoxicosis 22q11.2缺失综合征2例甲状腺毒症术后恢复时血清钙降低

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-08-06 DOI: 10.1111/cga.12486

Shota Hiroshima, Chihiro Taniguchi, Mika Inoue, Hirohito Sone, Keisuke Nagasaki

引用次数: 0

External ear anatomy and variations in neonates 新生儿外耳解剖及变异

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-25 DOI: 10.1111/cga.12483

Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan

{"title":"External ear anatomy and variations in neonates","authors":"Saadet Erdem, Zeliha Fazliogullari, Ahmet Ural, Ahmet Kagan Karabulut, Nadire Unver Dogan","doi":"10.1111/cga.12483","DOIUrl":"10.1111/cga.12483","url":null,"abstract":"It is aesthetically important that the auricle has a natural and beautiful shape. The sizes, position and symmetry of normal auricle are used for different purposes in different disciplines. A deformation in the auricle of neonates and its size or location on the face may indicate a possible anomaly. The aim of this study is to investigate the normal sizes, anomaly types, anomaly rates and the relationship between hearing screening test results and auricular anomaly of the neonatal auricle. The length, width, angle, and distance measurements of the auricle were made in neonates (n = 550). Anomaly types of auricle were observed. Goniometer was used to measure angles; digital caliper and ruler were used to measure lengths. Anomalies were detected by the method of observation. In the morphometric data of the neonatal auricle, differences were determined in length and width values in terms of gender. Various types of anomalies were observed in the right ear of 96 participants and in the left ear of 103 participants. Normal auricle size, position and symmetry are important for surgical reconstructions, hearing aid design, producing data banks on gender, age and ethnicity, and providing reference information for multiple diagnostic and forensic procedures. Recognition and early detection of auricular anomalies play an essential role in clinical diagnosis and their correction with special devices.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 5","pages":"208-216"},"PeriodicalIF":1.3,"publicationDate":"2022-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40396778","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

Intra-abdominal umbilical vein varix in a neonate with polysyndactyly 新生儿腹内脐静脉曲张多指畸形

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-24 DOI: 10.1111/cga.12484

Steven Tessier, Jennifer Canning, Santo Longo, Dianne Jacobetz

引用次数: 0

A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant 46,xy性发育障碍合并先天性心脏病由GATA4变异引起1例

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-24 DOI: 10.1111/cga.12482

Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi

{"title":"A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant","authors":"Yui Shichiri, Yoshimi Kato, Hidehito Inagaki, Takema Kato, Naoko Ishihara, Masafumi Miyata, Hiroko Boda, Arisa Kojima, Misa Miyake, Hiroki Kurahashi","doi":"10.1111/cga.12482","DOIUrl":"10.1111/cga.12482","url":null,"abstract":"GATA4 is known to be a causative gene for congenital heart disease, but has also now been associated with disorders of sexual development (DSD). We here report a pathogenic variant of GATA4 in a 46,XY DSD patient with an atrial septal defect, identified by whole-exome sequencing to be c.487C>T (p.Pro163Ser). This mutation resulted in reduced transcriptional activity of the downstream gene. When we compared this transcriptional activity level with other GATA4 variants, those that had been identified in patients with cardiac defects and DSD showed less activity than those in patients with cardiac defect only. This suggests that the normal development of the heart requires more strict regulation of GATA4 transcription than testicular development. Further, when the different variants were co-expressed with wild-type, the transcriptional activities were consistently lower than would be expected from an additive effect, suggesting a dominant-negative impact of the variant via dimer formation of the GATA4 protein. Since these pathogenic GATA4 variants are occasionally identified in healthy parents, a threshold model of quantitative traits may explain the cardiac defect or DSD phenotypes that they cause.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 5","pages":"203-207"},"PeriodicalIF":1.3,"publicationDate":"2022-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40398981","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: 3

Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory animals in developmental toxicity studies: Report from the Satellite Workshop of the 60th Annual Meeting of the Japanese Teratology Society DevTox柏林研讨会和日本畸形学会术语委员会在协调发育毒性研究中实验室动物异常分类术语方面的当前活动:来自日本畸形学会第60届年会卫星研讨会的报告

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-03 DOI: 10.1111/cga.12480

Makiko Kuwagata, Akira Sato, Yuko Izumi, Kazuhiro Chihara, Hanako Yamasaki, Yoshihiro Katsumata, Yojiro Ooshima, Jochen Buschmann, Michio Fujiwara

{"title":"Current activities between the DevTox Berlin workshops and the Japanese Teratology Society Terminology Committee in harmonizing the terminology for classifying anomalies in laboratory animals in developmental toxicity studies: Report from the Satellite Workshop of the 60th Annual Meeting of the Japanese Teratology Society","authors":"Makiko Kuwagata, Akira Sato, Yuko Izumi, Kazuhiro Chihara, Hanako Yamasaki, Yoshihiro Katsumata, Yojiro Ooshima, Jochen Buschmann, Michio Fujiwara","doi":"10.1111/cga.12480","DOIUrl":"https://doi.org/10.1111/cga.12480","url":null,"abstract":"In recent years, the Japanese Teratology Society has worked with the DevTox Berlin Workshops project to provide internationally consistent terminology for teratogenic effects. This paper summarizes a satellite workshop of the 60th Annual Meeting of the Japanese Teratology Society, which was entitled “Current activities between DevTox Berlin Workshops to develop a harmonized terminology for classifying anomalies in laboratory animals in developmental toxicity studies.” The Japanese Teratology Society - Laboratory Animal Terminology Project (JTS-LATP) reviewed “gray zone” anomalies and focused on developing criteria for reclassifying a large number of gray zone anomalies to clarify them and to make it easier to judge fetal categories. This effort will lead to international agreement, based on shared conceptions. The present article aimed to provide the reader with a summary of the issues discussed at the 2020 satellite meeting, which included discussions on open issues from the DevTox Berlin Workshops, ongoing work by the JTS-LATP on gray zone (GZ) anomalies, current industrial concerns, and future challenges.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 5","pages":"198-202"},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137777134","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

Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing 微滴数字聚合酶链反应在无创产前检测中的应用评价

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-06-03 DOI: 10.1111/cga.12481

Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa

{"title":"Critical appraisal of droplet digital polymerase chain reaction application for noninvasive prenatal testing","authors":"Dolat Singh Shekhawat, Charu Sharma, Kuldeep Singh, Pratibha Singh, Abhishek Bhardwaj, Payal Patwa","doi":"10.1111/cga.12481","DOIUrl":"10.1111/cga.12481","url":null,"abstract":"Maternal-fetal medicine (FM) is currently a highly demanding branch and is gaining importance as increasing number of genetic disorders rise in incidence. Prenatal testing helps to detect such abnormalities that could affect the health status of the developing fetus like birth defects or genetic disorders. Considering the rising trend of genetic disorders, there is a need for a highly sensitive way of noninvasive prenatal testing (NIPT) that may reduce the incidence of unnecessary invasive procedures and iatrogenic fetal loss. The concept of NIPT for screening of genetic disorders is continuously evolving over the last two decades and multiple techniques have come up to utilize this in the field of FM. The crucial factor which decides the accuracy of NIPS is cell free fetal DNA (cffDNA) that is present in extremely low fraction (10%–15%) in the maternal plasma. Among the available methods, the next generation sequencing (NGS) is considered as the gold standard. However, the higher cost diminishes its utility in low-resource settings. Droplet digital Polymerase chain reaction (ddPCR), a type of digital PCR is a novel technique that is frugal, equally sensitive, less labor intensive, less time-consuming and plain algorithm dependent method for detecting cffDNA fraction. Considering these impressive attributes of ddPCR, we decided to critically review the existing literature on ddPCR for NIPT whilst highlighting the clinical utility, challenges and its advantages over NGS.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 5","pages":"188-197"},"PeriodicalIF":1.3,"publicationDate":"2022-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80827503","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: 1