Congenital Anomalies最新文献_第10页

Androgen/Wnt/β-catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum. 雄激素/Wnt/β-catenin信号轴增强小鼠勃起组织海绵体细胞增殖。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-03-29 DOI: 10.1111/cga.12465

Mizuki Kajimoto, Kentaro Suzuki, Yuko Ueda, Kota Fujimoto, Toru Takeo, Naomi Nakagata, Taiju Hyuga, Kyoichi Isono, Gen Yamada

{"title":"Androgen/Wnt/β-catenin signal axis augments cell proliferation of the mouse erectile tissue, corpus cavernosum.","authors":"Mizuki Kajimoto, Kentaro Suzuki, Yuko Ueda, Kota Fujimoto, Toru Takeo, Naomi Nakagata, Taiju Hyuga, Kyoichi Isono, Gen Yamada","doi":"10.1111/cga.12465","DOIUrl":"https://doi.org/10.1111/cga.12465","url":null,"abstract":"The murine penile erectile tissues including corpus cavernosum (CC) are composed of blood vessels, smooth muscle, and connective tissue, showing marked sexual differences. It has been known that the androgens are required for sexually dimorphic organogenesis. It is however unknown about the features of androgen signaling during mouse CC development. It is also unclear how androgen-driven downstream factors are involved such processes. In the current study, we analyzed the onset of sexually dimorphic CC formation based on histological analyses, the dynamics of androgen receptor (AR) expression, and regulation of cell proliferation. Of note, we identified Dickkopf-related protein 2 (Dkk2), an inhibitor of β-catenin signaling, was predominantly expressed in female CC compared with male. Furthermore, administration of androgens resulted in activation of β-catenin signaling. We have found the Sox9 gene, one of the essential markers for chondrocyte, was specifically expressed in the developing CC. Hence, we utilized CC-specific, Sox9 CreERT2 , β-catenin conditional mutant mice. Such mutant mice showed defective cell proliferation. Furthermore, introduction of activated form of β-catenin mutation (gain of function mutation for Wnt/β-catenin signaling) in CC induced augmented cell proliferation. Altogether, we revealed androgen-Wnt/β-catenin signal dependent cell proliferation was essential for sexually dimorphic CC formation. These findings open new avenues for understanding developmental mechanisms of androgen-dependent cell proliferation during sexual differentiation.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40313048","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: 4

Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia. 先天性膈疝胎兔模型肝脏病理改变。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-02-25 DOI: 10.1111/cga.12462

Gloria Pelizzo, José L Peiro, Vincenzo Villanacci, Laurenço Sbragia, Marc Oria, Annalisa De Silvestri, Emanuela Mazzon, Valeria Calcaterra

{"title":"Liver pathological alterations in fetal rabbit model of congenital diaphragmatic hernia.","authors":"Gloria Pelizzo, José L Peiro, Vincenzo Villanacci, Laurenço Sbragia, Marc Oria, Annalisa De Silvestri, Emanuela Mazzon, Valeria Calcaterra","doi":"10.1111/cga.12462","DOIUrl":"https://doi.org/10.1111/cga.12462","url":null,"abstract":"To date, fetal liver implication is not a well-understood phenomenon in congenital diaphragmatic hernia (CDH). We evaluated the fetal morphologic changes on liver growth after surgical procedure in CDH experimental model. A diaphragmatic defect at gestational day E25 and tracheal occlusion (TO) at E27 were surgically created in rabbit fetuses. Five experimental groups were assessed: control group, left CDH, right CDH, CDH + TO, and TO alone. Body and organ growth were measured. For histological evaluation of the CDH effect, liver sections were collected. Left-CDH group had livers with increased leukocyte infiltration in comparison with controls (p = 0.02). Increased capillary sinusoid congestion and hepatocyte vacuolation were greater in left-CDH compared with the right-CDH group (p = 0.05). Capillary sinusoid congestion and interstitial edema were more evident in the left-CDH compared with CDH + TO group (p = 0.05). Increases in sinusoid congestion, hepatocyte vacuolation, and interstitial edema were also greater in the CDH + TO compared with controls (p ≤ 0.02). Intrathoracic liver weight was higher in right-CDH compared with left-CDH group (p < 0.001). Total lung weights (TLW) were significantly lower in both left-CDH compared with controls (p < 0.001), CDH + TO (p = 0.01), and TO (p < 0.01) and in right-CDH compared with CDH + TO (p < 0.01) and TO (p < 0.01). Decreased kidney and heart weights were also recorded. Hemodynamics and structural fetal liver changes in laterality were noted in CDH model. Regulation of intrathoracic liver weights seems to be disturbed by the absence of diaphragmic contact. Pulmonary injury is supported by the effect of a first hit, while the growth of internal organs suggests a multisystemic remodeling related to the fetal adaptation.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39934171","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

A systematic review of maternal diabetes and congenital skeletal malformation. 母体糖尿病与先天性骨骼畸形的系统综述。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-05-01 Epub Date: 2022-03-30 DOI: 10.1111/cga.12463

Krupa Shah, Hitesh Shah

{"title":"A systematic review of maternal diabetes and congenital skeletal malformation.","authors":"Krupa Shah, Hitesh Shah","doi":"10.1111/cga.12463","DOIUrl":"https://doi.org/10.1111/cga.12463","url":null,"abstract":"The magnitude of association of skeletal anomalies with maternal diabetes is not known. The systemic review was done to detect the frequency of congenital skeletal malformations with diabetes mellitus in pregnancy in the literature evidence of the past 50 years. Literature on maternal diabetes and skeletal malformation was searched by two independent authors by following PRISMA guidelines. Strict inclusion and exclusion criteria were followed. After quality assessment, 21 original articles were included. The frequency of congenital malformation, skeletal malformation was extracted from the included studies. 11,574 congenital anomalies were detected diabetic mothers. 1182 skeletal anomalies were noted in 20,11 552 diabetic mothers. The skeletal malformation was noted in 20.4% of total anomalies. The most common skeletal malformation was the defect of the spine (39.9%). The limb deficiency was found in 32.8% of the infants of diabetic mothers. The skeletal malformations were higher, that is, 24.6% in pre-gestational diabetes. The incidence of skeletal malformation from the evidence was 1.5% (range: 0.03-4.27%) in maternal diabetes. Pre-gestation diabetes is more frequently associated with skeletal malformations, which is 1.9% (range: 0.07-5.89%). The association of congenital malformations and skeletal malformations in diabetic pregnancy is significant and hence, effective management of diabetes in childbearing age is essential to reduce this incidence and related long-term morbidity.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40316881","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

Three-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome 成长期Apert综合征和Crouzon综合征患者腭部形态的三维分析

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-04-25 DOI: 10.1111/cga.12470

Kenji Ogura, Yukiho Kobayashi, Rina Hikita, Michiko Tsuji, Keiji Moriyama

{"title":"Three-dimensional analysis of the palatal morphology in growing patients with Apert syndrome and Crouzon syndrome","authors":"Kenji Ogura, Yukiho Kobayashi, Rina Hikita, Michiko Tsuji, Keiji Moriyama","doi":"10.1111/cga.12470","DOIUrl":"10.1111/cga.12470","url":null,"abstract":"Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative three-dimensional (3D) analysis of the palatal morphology of patients with Apert syndrome and Crouzon syndrome. Four patients with Apert syndrome (average age, 11.0 ± 0.8 years) and five with Crouzon syndrome (average age, 10.1 ± 1.6 years) were investigated. The participants' maxillary dental casts were scanned and analyzed using 3D imaging. Palatal width, depth, cross-sectional area, and palatal angle (PW, PD, PCA, and PA, respectively) were measured, and standard scores were calculated based on sex- and age-matched Japanese standard values; the actual palatal surface areas (PSA) and palatal volumes (PV) were also measured. Our results show that patients with Apert syndrome and Crouzon syndrome had a very narrow PW (standard score: −3.79 and − 0.47, respectively). 3D analysis revealed that patients with Apert syndrome had a significantly shallower PD (standard score: −1.35) than those with Crouzon syndrome (standard score: 2.47), resulting in a smaller PCA (standard score: −5.13), PSA (5.49 cm2), and PV (1.11 cm3) and larger PA (standard score: −0.12) than those in patients with Crouzon syndrome. This might be due to the former having a narrower and shallower palate caused by the predominant swelling of the palatal mucosa. These findings improve our understanding of the differences in palatal morphology between Apert syndrome and Crouzon syndrome patients.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75819176","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

Perinatal management of tension pneumothorax due to cystoamniotic shunt displacement 膀胱羊膜分流移位致张力性气胸的围生期处理

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-03-23 DOI: 10.1111/cga.12467

Akio Kamiya, Takahiro Yamada, Aya Yoshida, Takashi Doi, Hidetaka Okada

引用次数: 0

How commonly can we see esophageal atresia in both dizygotic twins? 双卵双胞胎中食管闭锁有多常见?

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-03-23 DOI: 10.1111/cga.12468

Nadia Laezza, Joana Lopes, Maria Francelina Lopes

{"title":"How commonly can we see esophageal atresia in both dizygotic twins?","authors":"Nadia Laezza, Joana Lopes, Maria Francelina Lopes","doi":"10.1111/cga.12468","DOIUrl":"10.1111/cga.12468","url":null,"abstract":"There is an over representation of twins in the esophageal atresia (EA) population. 1 However, for both of the twins to have the condition is extremely rare, especially if dizygotic. 1 – 6 This paper describes a pair of spontaneous dizygotic twins, both affected with EA with tracheo-esophageal fistula (TEF). A 27-year-old healthy Caucasian woman, G1P0, naturally conceived dichorionic diamniotic twins, both with EA with TEF (Gross type C). She was working as a radiology technician and the pregnancy was screened from 29 weeks of gestation. There was no prenatal diagnosis. Spontaneous vaginal delivery occurred at 35 weeks and the diagnosis was made at birth in both twins. The babies were dizygotic as confirmed by having different blood types (type O in twin 1 and type A in twin 2). There were no associated malformations. Twin 2 needed nasal prong oxygen therapy and had surgery on the second day of life; twin 1 had surgery on the third day of life. Single-stage primary repair by thoracotomy was success-ful in both, they were extubated within 72 hours and the post-operative period was uneventful. Both babies were discharged within 1 month and at 2-month follow-up they remain asymptomatic. Genetic consultation was requested. is","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40315153","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

A predicting model of child-bearing-aged women’ spontaneous abortion by co-infections of TORCH and reproductive tract TORCH与生殖道合并感染对育龄妇女自然流产的预测模型

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-03-23 DOI: 10.1111/cga.12466

Qun Zuo, Zhangquan Gao, Li Cai, Linlin Bai, Yu Pei, Mengchao Liu, Hongmei Xue, Juan Xu, Shusong Wang

{"title":"A predicting model of child-bearing-aged women’ spontaneous abortion by co-infections of TORCH and reproductive tract","authors":"Qun Zuo, Zhangquan Gao, Li Cai, Linlin Bai, Yu Pei, Mengchao Liu, Hongmei Xue, Juan Xu, Shusong Wang","doi":"10.1111/cga.12466","DOIUrl":"10.1111/cga.12466","url":null,"abstract":"To develop a predicting model of child-bearing-aged women’ spontaneous abortion (SA) by co-infections of TORCH and reproductive tract, in order to provide a reference tool for accurately predicting the risk of SA and guide the early prevention, diagnosis and treatment of SA. A prospective cohort study was designed based on 218 958 child-bearing-aged women following up in Hebei province in China from 2010 to 2017. Multivariable logistic regression analysis was used to select candidate predictive variables. Fisher's discriminant analysis was performed to build a predictive model, and the validity of the model was evaluated. The incidence rate of SA was 2.4%. Multivariable logistic regression analysis showed that age (OR = 3.507), adverse pregnancy history (OR = 1.509), co-infections status of Candida and HBsAg (ORCandida positive×HBsAg negative = 4.091, ORCandida negative×HBsAg positive = 3.327, and ORCandida positive×HBsAg positive = 13.762), and co-infections status of HBsAg, Rubella (IgG) and CMV (IgG) (ORHBs-Ag negative×Rubella (IgG) negative×CMV (IgG) positive = 1.789, ORHBs-Ag positive×Rubella (IgG) positive×CMV (IgG) negative = 3.809, and ORHBsAg positive×Rubella (IgG) positive×CMV (IgG) positive = 11.919) were the independent predictors of SA. The total discriminant rate reached 91%, with 82% of the sensitivity and 91% of the specificity. The predicting model of child-bearing-aged women’ SA by co-infections status has a good performance. The co-infection status of TORCH and reproductive tract are suggested to be considered in pre-pregnancy physical examination.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2022-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40318424","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 Japanese Teratology Society 61st Annual Meeting 日本畸形学会第61届年会

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-01-04 DOI: 10.1111/cga.12453

引用次数: 0

Analysis of triptan use during pregnancy in Japan: A case series 日本妊娠期间曲坦类药物使用分析:一个病例系列

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2022-01-03 DOI: 10.1111/cga.12456

Yuko Yamaguchi, Takahiro Yamada, Mikako Goto, Hidenori Kawasaki, Takahito Wada, Yasuko Ikeda-Sakai, Yoshiyuki Saito, Masahiro Hayashi, Shiro Tanaka, Ryosuke Takahashi, Takeo Nakayama, Atsuko Murashima, Shinji Kosugi

引用次数: 1

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations 两例局灶性皮肤发育不全的新患者:一种新的PORCN变异和诊断考虑的见解

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2021-12-27 DOI: 10.1111/cga.12457

Rasha Moheb Elhossini, Mohamed S. Abdel-Hamid, Engy Ashaat, Ghada A. Otaify, Heba Dawoud, Khalid Elshimy, Mona El Ruby, Mona Aglan

{"title":"Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations","authors":"Rasha Moheb Elhossini, Mohamed S. Abdel-Hamid, Engy Ashaat, Ghada A. Otaify, Heba Dawoud, Khalid Elshimy, Mona El Ruby, Mona Aglan","doi":"10.1111/cga.12457","DOIUrl":"10.1111/cga.12457","url":null,"abstract":"Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the disease, infrequently reported clinical findings in the form of broad metaphysis, bilateral short broad femurs, and dermal sinus over the sacrum were seen in Patient 1 and partial fusion of labia majora, ventral hernia, and bladder extrophy were present in Patient 2. Two heterozygous protein-truncating PORCN mutations were identified in our patients, a known nonsense c.370C>T p.(Arg124Ter) and a novel frameshift c.375delG p.(Ala126HisfsTer3). Segregation analyses confirmed that the two mutations were “de novo” and not inherited from any of the parents. Our study expands the clinical and mutational spectrum of focal dermal hypoplasia and emphasizes the importance of investigating the different body systems and organs for the early management of patients.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2021-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39768706","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