Congenital Anomalies最新文献

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Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth 小鼠阴道发育,胚胎后期侧边增大,出生后尾端伸长
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12502
Masayo Harada, Keiichi Akita
{"title":"Mouse vaginal development with lateral enlargement at late embryonic stages and caudal elongation after birth","authors":"Masayo Harada,&nbsp;Keiichi Akita","doi":"10.1111/cga.12502","DOIUrl":"10.1111/cga.12502","url":null,"abstract":"<p>Müllerian ducts give rise to the oviducts, uterus, cervix, and vagina. During female reproductive tract development in mice, the bilateral Müllerian duct epithelium grows caudally until reaching the urogenital sinus epithelium. This is followed by further caudal growth with the reduction of the urogenital sinus epithelium. Finally, the vaginal epithelium of adult mice is entirely derived from the Müllerian duct epithelium. Here, we explored the mechanisms underlying mouse vaginal development via cell proliferation, apoptosis, and lineage analyses. We found that at the late embryonic stages, apoptosis occurred at the attachment site of bilateral Müllerian duct epithelia below the cervix, resulting in bilateral lumen traffic. The Müllerian duct epithelium was enclosed by the urogenital sinus epithelium at their boundary region on embryonic day (E) 16.5, whereas the Müllerian duct epithelium encased the urogenital sinus epithelium at postnatal day (P) 0 through lateral enlargement. Lateral Müllerian duct enlargement was accompanied by focal ERK activation within the curved epithelial tips and the specific localization of mitotic nuclei on the luminal side of the Müllerian duct epithelial layer at E17.5. Descent of the Müllerian duct epithelium and shortening of the urogenital sinus epithelium occurred rapidly after birth, accompanied by cell proliferation in the Müllerian duct epithelium and its peripheral mesenchymal tissues as well as intense apoptosis in the urogenital sinus epithelium around their boundary region. Urogenital sinus epithelium was localized at the base of the vagina at P7. In conclusion, the mouse vagina develops laterally at the late embryonic stages and caudally after birth.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"30-39"},"PeriodicalIF":1.3,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12502","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9096261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Late-onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir 使用AABR检测先天性巨细胞病毒感染引起的迟发性先天性听力损失,使用缬更昔洛韦可改善
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12501
Chihiro Morimoto, Toshiya Nishikubo, Tadashi Nishimura, Tomoko Onishi, Masahiro Takeyama, Yumiko Uchida, Shintaro Otsuka, Toshiaki Yamanaka, Tadashi Kitahara
{"title":"Late-onset and congenital hearing loss detected using AABR due to congenital cytomegalovirus infection that improved with valganciclovir","authors":"Chihiro Morimoto,&nbsp;Toshiya Nishikubo,&nbsp;Tadashi Nishimura,&nbsp;Tomoko Onishi,&nbsp;Masahiro Takeyama,&nbsp;Yumiko Uchida,&nbsp;Shintaro Otsuka,&nbsp;Toshiaki Yamanaka,&nbsp;Tadashi Kitahara","doi":"10.1111/cga.12501","DOIUrl":"10.1111/cga.12501","url":null,"abstract":"<p>Congenital cytomegalovirus (cCMV) infection is the most common congenital viral infection and is the leading non-genetic cause of sensorineural hearing loss and an important cause of neurodevelopmental disabilities. Auto auditory brainstem response (AABR) is a simple hearing test and used for the purpose of neonatal hearing screening, but can use it for early detection hard of hearing within the study age of the model. We experienced two case of asymptomatic CMV infection in which congenital and late-onset hearing loss were diagnosed early with AABR, and hearing loss improved with valganciclovir.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"40-43"},"PeriodicalIF":1.3,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9077499","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 diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection 妊娠早期感染SARS-COV-2后VACTERL相关性的产前诊断
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12503
Angel Chimenea, Lutgardo García-Díaz, Ana María Calderón, Guillermo Antiñolo
{"title":"Prenatal diagnosis of VACTERL association after early-first trimester SARS-COV-2 infection","authors":"Angel Chimenea,&nbsp;Lutgardo García-Díaz,&nbsp;Ana María Calderón,&nbsp;Guillermo Antiñolo","doi":"10.1111/cga.12503","DOIUrl":"10.1111/cga.12503","url":null,"abstract":"<p>Organogenesis is a period of fetal development with a special vulnerability to biological and environmental agents. There are some viral infections whose transmission in the first trimester carries a significant risk for the development of congenital anomalies. Although the possibility of vertical transmission of SARS-CoV-2 during pregnancy has been demonstrated, there are no studies evaluating the impact of SARS-CoV-2 infection in the first trimester and its possible association with congenital anomalies. In this communication, we present the case of a pregnant woman with early SARS-CoV-2 infection, prenatally diagnosed with fetal VACTERL association by mid-trimester ultrasound. Further studies are needed to determine the causal association.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"44-46"},"PeriodicalIF":1.3,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9877562/pdf/CGA-9999-0.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9390698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2 BICD2引起的常染色体显性遗传性脊髓性肌萎缩的声带麻痹。
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-12-14 DOI: 10.1111/cga.12500
Sachiko Matsui, Sota Iwatani, Naoya Morisada, Toshiki Takenouchi, Seiji Yoshimoto
{"title":"Vocal cord paralysis in autosomal dominant spinal muscular atrophy due to BICD2","authors":"Sachiko Matsui,&nbsp;Sota Iwatani,&nbsp;Naoya Morisada,&nbsp;Toshiki Takenouchi,&nbsp;Seiji Yoshimoto","doi":"10.1111/cga.12500","DOIUrl":"10.1111/cga.12500","url":null,"abstract":"at","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 2","pages":"52-53"},"PeriodicalIF":1.3,"publicationDate":"2022-12-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9401382","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
Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate 传统印模与口内扫描在单侧唇腭裂研究中的比较
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-11-12 DOI: 10.1111/cga.12499
Tomoyo Okazaki, Hitoshi Kawanabe, Kazunori Fukui
{"title":"Comparison of conventional impression making and intraoral scanning for the study of unilateral cleft lip and palate","authors":"Tomoyo Okazaki,&nbsp;Hitoshi Kawanabe,&nbsp;Kazunori Fukui","doi":"10.1111/cga.12499","DOIUrl":"10.1111/cga.12499","url":null,"abstract":"<p>Patients with cleft lip and palate (CLP) encounter various problems, including disorders related to feeding, esthetics, and pronunciation. We compared two impression methods, conventional impression making and intraoral scanning, to study unilateral cleft lip and palate (UCLP). Patients with UCLP (<i>n</i> = 7) were selected, and palatal impressions were taken by two steps: (1) impressions were obtained using an addition silicone rubber impression material, and a plaster model was prepared and (2) optical impressions were obtained using a desktop three-dimensional (3D) scanner and stereolithography (STL). Data were generated by two impression system combinations through STL. The results were analyzed using the Kruskal–Wallis or Mann–Whitney <i>U</i> test. There were no significant differences in the dimensions of the models between both groups. The measured depth of the alveolar cleft defects was deeper in the plaster model group (STL) than in the intraoral scanner group (STL). Digital models may prevent the risk of aspiration and respiratory disorders by using impression materials for preoperative jaw treatment of newborns and infants. We compared the results of both impression methods in the same patient and found that a shift to the 3D printer model is a safe alternative for preoperative jaw correction, as evidenced from the amount of tissue displaced due to the pressure applied during impression taking. In the future, we would like to conduct clinical research with a larger sample size of CLP patients to further corroborate these findings.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"16-22"},"PeriodicalIF":1.3,"publicationDate":"2022-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12499","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9297908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Reviewers 评论家
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-11-08 DOI: 10.1111/cga.12498
{"title":"Reviewers","authors":"","doi":"10.1111/cga.12498","DOIUrl":"https://doi.org/10.1111/cga.12498","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 6","pages":"260"},"PeriodicalIF":1.3,"publicationDate":"2022-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"137659593","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
Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study 日本2011 - 2014年出生的248例唇腭裂患儿相关先天性异常及综合征的环境与儿童研究
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-23 DOI: 10.1111/cga.12496
Yukihiro Sato, Eiji Yoshioka, Yasuaki Saijo, Yasuhito Kato, Ken Nagaya, Satoru Takahashi, Yoshiya Ito, Sumitaka Kobayashi, Yu Ait Bamai, Keiko Yamazaki, Sachiko Itoh, Chihiro Miyashita, Atsuko Ikeda-Araki, Reiko Kishi, The Japan Environment and Children's Study (JECS) Group
{"title":"Associated congenital anomalies and syndromes of 248 infants with orofacial clefts born between 2011 and 2014 in the Japan environment and children's study","authors":"Yukihiro Sato,&nbsp;Eiji Yoshioka,&nbsp;Yasuaki Saijo,&nbsp;Yasuhito Kato,&nbsp;Ken Nagaya,&nbsp;Satoru Takahashi,&nbsp;Yoshiya Ito,&nbsp;Sumitaka Kobayashi,&nbsp;Yu Ait Bamai,&nbsp;Keiko Yamazaki,&nbsp;Sachiko Itoh,&nbsp;Chihiro Miyashita,&nbsp;Atsuko Ikeda-Araki,&nbsp;Reiko Kishi,&nbsp;The Japan Environment and Children's Study (JECS) Group","doi":"10.1111/cga.12496","DOIUrl":"10.1111/cga.12496","url":null,"abstract":"<p>This study aimed to document the complication status of infants with orofacial clefts born between 2011 and 2014 in Japan. This was a descriptive study using data from the Japan Environment and Children's Study. Among 103 060 pregnancies, 248 infants with orofacial clefts were included (livebirth, 239; stillbirth, 4; miscarriage, 5). The items of interest were complication status of orofacial clefts: isolated (typical orofacial clefts only); multi-malformed (orofacial clefts with unrelated major defects); syndromic (orofacial clefts with a syndrome or a chromosomal defect). Regarding the cleft subtypes, of 248 infants with orofacial clefts, 104 had cleft lip with cleft palate (CLP) (41.9%), 68 had cleft lip without cleft palate (CL) (27.4%), 58 had cleft palate without cleft lip (CP) (23.4%), and 18 were nonclassified (7.3%). In infants with CLP, the proportions of isolated, multi-malformed, and syndromic phenotypes were 73.1%, 15.4%, and 11.5%, respectively. In infants with CL, the proportions were 79.4%, 16.2%, and 4.4%, respectively. In infants with CP, the proportions were 69.0%, 13.8%, and 17.2%, respectively. The most frequently associated congenital anomaly was congenital heart disease. In infants with syndromic CLP, 41.7% had trisomy 13. In infants with syndromic CP, 80.0% had the Pierre Robin sequence. Congenital heart disease could be the most frequently associated congenital anomaly. The most frequently associated syndrome could be trisomy 13 in those with CLP and Pierre Robin sequence in those with CP.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"9-15"},"PeriodicalIF":1.3,"publicationDate":"2022-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10839661","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: 2
Fetoscopic surgery for amniotic band syndrome: Case series 胎镜手术治疗羊膜带综合征:病例系列
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12494
Şükran Doğru, Ali Acar
{"title":"Fetoscopic surgery for amniotic band syndrome: Case series","authors":"Şükran Doğru,&nbsp;Ali Acar","doi":"10.1111/cga.12494","DOIUrl":"10.1111/cga.12494","url":null,"abstract":"<p>We aimed to evaluate the fetoscopic procedure indications, procedure-related complications, and neonatal outcomes in cases diagnosed with amniotic band syndrome (ABS). Stage II and III cases according to Hüsler classification were included for fetoscopic surgery. Scissors were used to release the amniotic band in six cases, and a diode laser was used in one case. A single entry was made in all cases. The majority of the children acquired a functional limb (71.4%). Fetal morbidity was mainly linked to the consequences of preterm premature rupture of the membranes (57.1%) and preterm birth (28.5%). Excluding complicated cases, fetoscopic band release is encouraging in cases of ABS in the limbs.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"4-8"},"PeriodicalIF":1.3,"publicationDate":"2022-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10529674","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
Paper box fixation for femur fractures in an infant with osteogenesis imperfecta 纸盒内固定治疗婴儿成骨不全性股骨骨折1例
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12495
Takeshi Sato, Satsuki Nakano, Arihiko Kanaji, Tomohiro Ishii, Tomonobu Hasegawa
{"title":"Paper box fixation for femur fractures in an infant with osteogenesis imperfecta","authors":"Takeshi Sato,&nbsp;Satsuki Nakano,&nbsp;Arihiko Kanaji,&nbsp;Tomohiro Ishii,&nbsp;Tomonobu Hasegawa","doi":"10.1111/cga.12495","DOIUrl":"10.1111/cga.12495","url":null,"abstract":"Osteogenesis imperfecta (OI) is a congenital disorder characterized by fragile bones. Infants with OI often develop fractures during daily care even when caution is exercised. When splints or casts are used to treat fractures in infants with OI, additional splint- or cast-associated fractures may occur owing to the bone fragility. 1 To date, safe methods of fixation without the use of splints or casts have not been established. 2,3 Here, we present our method of fixing femur fractures in an infant with OI using a paper box. Our patient was detected with short lower limbs at approximately 18 gestational weeks by routine ultrasonography. She was born at 37 gestational weeks by elective cesarean section. She was diagnosed with OI type IV based on radiological findings, which included retarded ossification of the cranial vault, generalized demineralization, slender long bones, and bowing of long bones with microfractures. Pamidronate","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 1","pages":"23-24"},"PeriodicalIF":1.3,"publicationDate":"2022-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10843803","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
Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography 乳牙融合牙相关连续牙管束的计算机断层成像特征
IF 1.3 4区 医学
Congenital Anomalies Pub Date : 2022-09-18 DOI: 10.1111/cga.12493
Masafumi Oda, Ikuko Nishida, Katsura Saeki, Tatsurou Tanaka, Shinobu Matsumoto-Takeda, Nao Wakasugi-Sato, Manabu Habu, Yutaro Nagasaki, Daigo Yoshiga, Masaaki Sasaguri, Yasuhiro Morimoto
{"title":"Imaging characteristics of the gubernaculum tracts in successional teeth related to deciduous fused teeth on computed tomography","authors":"Masafumi Oda,&nbsp;Ikuko Nishida,&nbsp;Katsura Saeki,&nbsp;Tatsurou Tanaka,&nbsp;Shinobu Matsumoto-Takeda,&nbsp;Nao Wakasugi-Sato,&nbsp;Manabu Habu,&nbsp;Yutaro Nagasaki,&nbsp;Daigo Yoshiga,&nbsp;Masaaki Sasaguri,&nbsp;Yasuhiro Morimoto","doi":"10.1111/cga.12493","DOIUrl":"10.1111/cga.12493","url":null,"abstract":"<p>The purpose of this study was to elucidate the imaging characteristics of the gubernaculum tracts in successional teeth related to fused deciduous teeth on computed tomography. The imaging findings of 15 gubernaculum tracts in successional teeth related to fused deciduous teeth were retrospectively analyzed using cone-beam computed tomography or multidetector computed tomography. In cases without a congenitally defected successor, the two gubernaculum tracts of two successional teeth related to fused deciduous teeth were fused into one. Gubernaculum tracts (GTs) in mesial successors were vertical, but in distal successors they were inclined to mesial. The major abnormalities of the successional teeth related to fused deciduous teeth were delayed eruption and delayed formation. No inclined mesial successors were found, whereas most of the distal successors were inclined to mesial along with the inclined GT. The gubernaculum tracts of successors with a congenital defect of the other successors were vertical, and such successors had no abnormalities. The present study showed the imaging characteristics of gubernaculum tracts in successional teeth related to fused deciduous teeth. The abnormal eruption of successional teeth related to fused deciduous teeth may be associated with the characteristics of their gubernaculum tracts.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"62 6","pages":"241-247"},"PeriodicalIF":1.3,"publicationDate":"2022-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7c/e3/CGA-62-241.PMC9828054.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10511370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
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