Congenital Anomalies最新文献_第5页

Survival rate of mice heterozygous for the dominant hemimelia mutation depends on the genetic background 显性半鼻疽突变的杂合子小鼠的存活率取决于遗传背景。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-19 DOI: 10.1111/cga.12541

Jun-ichi Suto

引用次数: 0

Recessive mutation on mouse chromosome 13 associated with abnormal hair texture and cardiomyopathy 小鼠13号染色体隐性突变与毛发质地异常和心肌病相关。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-09-13 DOI: 10.1111/cga.12540

Jun-ichi Suto

引用次数: 0

Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital 基于某三级儿童医院系列病例的口面裂产前诊断及家族史的思考

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-31 DOI: 10.1111/cga.12538

Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura, Orofacial Cleft Team of University Hospital Center of São João, EPE

{"title":"Orofacial clefts: Reflections on prenatal diagnosis and family history based on a series of cases of a tertiary children hospital","authors":"Tatiana Moreira, Margarida Dias, Madalena Von Hafe, Ana Rita Curval, Carla Ramalho, Ana Maria Maia, Carla Pinto Moura, Orofacial Cleft Team of University Hospital Center of São João, EPE","doi":"10.1111/cga.12538","DOIUrl":"10.1111/cga.12538","url":null,"abstract":"Prenatal diagnosis of orofacial clefts allows adequate counseling and planning for prenatal care and delivery. In 2001, two-dimensional ultrasound screening became universally used in Portugal by government guidelines, and after 2007 more advanced ultrasound became available. This study aimed to describe the prevalence of family history in patients with orofacial clefts and analyze prenatal diagnosis in patients born before 2001, between 2001 and 2007 and after 2007. Retrospective analysis of a cohort of patients with orofacial clefts followed by the trans-disciplinary team of a tertiary hospital. A total of 672 OFCs were identified: 40.9% isolated cleft palate, 38.1% cleft lip and palate, 19.7% cleft lip and 1.3% atypical cleft; 57.1% were male. The prevalence of family history was 26.0% of which 30.9% had a recognizable syndrome. Of those born before 2001, 13.7% had prenatal diagnosis; of those born between 2001 and 2007, 32.6% orofacial clefts were diagnosed in utero; and in children born after 2007, prenatal diagnosis increased to 47.1%. In our study, about one-fourth of children had a positive family history. Since the implementation of universal ultrasound screening in Portugal, more orofacial clefts were identified in utero (42.5% vs. 13.7%; p < 0.05) and after the availability of advanced ultrasound, prenatal diagnosis increased to 47.1% (vs. 20.4% before 2007; p < 0.05). Of all orofacial clefts diagnosed prenatally, ultrasound revealed more accuracy for the diagnosis of cleft lip and palate (65.4%) and cleft lip (24.8%). Cleft palate is the most difficult to detect in utero (9.3%). Prenatal ultrasound screening in Portugal has technically evolved with consequent better diagnostic accuracy for the identification of orofacial clefts, allowing better parenteral counseling.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10119776","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

An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft 一种易于使用的半自动容量评估方法用于单侧牙槽裂患者的二次植骨。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-16 DOI: 10.1111/cga.12534

Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto

{"title":"An easy-to-use semi-automatic volumetric evaluation for secondary bone grafting in patients with unilateral alveolar cleft","authors":"Mizuki Teramoto, Motoki Katsube, Natsuko Utsunomiya, Yasuhiro Katayama, Hiroki Yamanaka, Itaru Tsuge, Yoshihiro Sowa, Michiharu Sakamoto, Naoki Morimoto","doi":"10.1111/cga.12534","DOIUrl":"10.1111/cga.12534","url":null,"abstract":"Surgical intervention for alveolar bone formation is important in patients with alveolar cleft; however, the treatment methods and materials are still controversial. A precise evaluation method for postoperative bone formation is important for comparing outcomes and establishing the best treatment protocol. The purpose of this study is to establish a new method of evaluating surgical outcomes for patients with alveolar cleft. Computed tomography datasets from 20 patients who underwent secondary alveolar bone grafting were obtained before and 1 year after surgery. Six anatomical landmarks were used to superimpose the preoperative and mirrored preoperative volume and postoperative volume data. The cleft region was segmented by subtracting the preoperative from mirrored preoperative volume data, and the failed osteogenesis region was segmented by subtracting the postoperative volume data from the cleft region; subsequently, the bone formation ratio was calculated. Two observers performed this method using a free software 3D slicer and the average evaluation times were 12.7 and 13.2 min for observers 1 and 2, respectively. Method reliability was determined by evaluating intraclass correlation coefficients. The intra-observer intraclass correlation coefficients were 0.97 and 0.96 for observers 1 and 2, respectively. The inter-observer intraclass correlation coefficient was 0.97. Our method is practical for assessing bone formation after treatment, which does not require specific knowledge or software and can be used by ordinary physicians.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12534","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10011749","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

Hypoalbuminemia in newborns with gastroschisis 新生儿胃裂的低白蛋白血症。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-13 DOI: 10.1111/cga.12537

Hiroki Goto, Sota Iwatani, Toshihiko Ikuta, Seiji Yoshimoto

引用次数: 0

A variant in the LDL receptor-related protein encoding gene LRP4 underlying polydactyly and phalangeal synostosis in a family of Pakistani origin 低密度脂蛋白受体相关蛋白编码基因LRP4的变异导致巴基斯坦裔家庭的多指畸形和指骨关节闭锁。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-10 DOI: 10.1111/cga.12536

Hammal Khan, Kifayat Ullah, Abid Jan, Hamid Ali, Imran Ullah, Wasim Ahmad

引用次数: 0

First-trimester prenatal diagnosis of Coffin-Siris syndrome-related congenital diaphragmatic hernia: The role of exome sequencing in determining genetic etiology Coffin-Siris综合征相关先天性膈疝的妊娠早期产前诊断:外显子组测序在确定遗传病因中的作用。

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-04 DOI: 10.1111/cga.12535

Xiang-Yi Jing, Li Zhen, Xiao-Mei Lin, Dong-Zhi Li

引用次数: 0

Three-dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period 胎儿早期人体脾脏及其周围脏器的三维形态分析

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-08-01 DOI: 10.1111/cga.12530

Natsuko Utsunomiya, Shiori Nakano, Motoki Katsube, Shigehito Yamada

{"title":"Three-dimensional morphological analysis of the human spleen and its surrounding organs during the early fetal period","authors":"Natsuko Utsunomiya, Shiori Nakano, Motoki Katsube, Shigehito Yamada","doi":"10.1111/cga.12530","DOIUrl":"10.1111/cga.12530","url":null,"abstract":"The spleen has variations in its morphology and is considered to acquire a defined shape in the third month of gestation. However, few studies have investigated spleen development during the first 3 months of fetal life. This study aimed to determine the three-dimensional (3D) morphogenesis of the spleen during the third month of gestation. In this study, 30 fetal specimens (crown–rump length [CRL]: 22–103 mm) were subjected to magnetic resonance imaging analysis. We manually segmented the spleen, stomach, and adrenal gland, reconstructed 3D models, and analyzed the volume and shape of these organs. The results showed that the variation in spleen size was large compared to that in other organs. Spleen morphology was classified into six types based on the number of splenic surfaces as follows: two-faced, three-faced, four-faced, five-faced, ovoid, and irregular. Two-faced spleens were only observed in small specimens, whereas three- and four-faced spleens were observed in larger specimens. We also revealed that the number of fetal splenic surfaces increased as CRL enlarged. Additionally, 3D models indicated that some specimens formed their splenic surfaces without contact with the adjacent organs. This suggested that the splenic surface may be caused not only by pressure from the faced organs but also by an intrinsic program. This study may provide a better understanding of the normal development of the spleen during the early fetal period, and may potentially assist future studies in investigating congenital morphological anomalies of the spleen.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10167583","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

Long-term clinical course of Heyn-Sproul-Jackson syndrome 海恩-斯普劳-杰克逊综合征的长期临床过程

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-07-30 DOI: 10.1111/cga.12532

Hiroshi Futagawa, Shiho Ito, Kenjiro Kosaki, Hiroshi Yoshihashi

引用次数: 0

Predisposing factors of non-syndromic cleft lip and cleft palate in the northern Thai population: A 10-year retrospective case–control study 泰国北部人群中非综合征性唇腭裂的易感因素:一项10年回顾性病例对照研究

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-07-29 DOI: 10.1111/cga.12529

Chirakan Charoenvicha, Karn Wongkawinwoot, Wachiranun Sirikul, Krit Khwanngern, Wimon Sirimaharaj

{"title":"Predisposing factors of non-syndromic cleft lip and cleft palate in the northern Thai population: A 10-year retrospective case–control study","authors":"Chirakan Charoenvicha, Karn Wongkawinwoot, Wachiranun Sirikul, Krit Khwanngern, Wimon Sirimaharaj","doi":"10.1111/cga.12529","DOIUrl":"10.1111/cga.12529","url":null,"abstract":"The most common congenital anomaly is orofacial cleft, which is categorized into two main types: cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO). One of the most accepted etiologies is multifactorial (gene–environment). This study aimed to identify the amendable risk factors of an orofacial cleft in Northern Thailand. A retrospective case–control study in Maharaj Nakorn Chiang Mai Hospital was conducted from 2011 to 2020. One hundred and seventeen cases of CL/P and CPO were included. Forty-nine normal children were enrolled in a time-matched control group. Exploratory survey data on maternal exposures were collected. Multivariate logistic regression was used to estimate the adjusted association between maternal exposures and CL/P, and CPO occurrence. Multivariate analysis identified three predisposing factors that increased the risk of CL/P and CPO. The first factor was caffeine consumption with a total amount of 560 mg/week (adjusted OR: 7.59; 95% CI: 2.48–23.23; p < 0.001). The second factor was any smoker or passive smoking (adjusted OR: 8.47; 95% CI: 1.63–43.92; p = 0.011). The third factor was a low socioeconomic status (income of lower than 270 USD/month; adjusted OR: 4.05; 95% CI: 1.07–15.27; p = 0.039). From the 10-year study in Northern Thailand: caffeine consumption, exposure to cigarette smoke, and low socioeconomic status were identified as associated negative factors for orofacial clefts. We propose that preconceptional counseling for risk reduction should be emphasized in reducing the mother's exposure to these factors. Future investigations in large multicenter populations are suggested.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2023-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10167580","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