Congenital Anomalies最新文献_第6页

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":"63 5","pages":"154-163"},"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":"63 5","pages":"147-153"},"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

Odontoma and other congenital dental anomalies: Implications for forensic identification 牙瘤和其他先天性牙齿异常:对法医鉴定的影响

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-07-28 DOI: 10.1111/cga.12533

Nandini Chitara, Deepika Rani, Tanuj Kanchan, Kewal Krishan

{"title":"Odontoma and other congenital dental anomalies: Implications for forensic identification","authors":"Nandini Chitara, Deepika Rani, Tanuj Kanchan, Kewal Krishan","doi":"10.1111/cga.12533","DOIUrl":"10.1111/cga.12533","url":null,"abstract":"Forensic odontology plays a crucial role in establishing the identity in mass disasters and criminal cases with high accuracy. Dental anomalies and features help in such situations. Congenital and developmental dental anomalies can be easily documented to establish distinctive and individualistic characteristics of an individual. The location, number of teeth involved, and the type of anomaly vary between individuals. Similarly, dental malformations also assist greatly in the identification process. Many types of dental anomalies have been studied in the past for their individualistic characteristics in forensic examinations. One such dental anomaly is odontoma, which is a benign odontogenic malformation. This malformation may also help in the identification of the deceased, when recorded and examined accurately. An odontome is a malformed teeth-like structures consisting of enamel, dentin, and pulpal tissue, formed due to the growth of completely differentiated epithelial and mesenchymal cells. If antemortem (AM) dental records incorporate information regarding odontomes and other dental anomalies, including in radiographs, orthopantomograms or microradiographs, positive identification may be established by comparison of these records with postmortem (PM) records. In the present communication, a rare case of compound composite odontoma in the anterior mandible with multiple denticles has been discussed with a brief overview of congenital and developmental dental anomalies. The authors emphasize the importance of such rare dental anomalies and malformations which may be used for identifying the deceased in mass disasters and forensic identification.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 5","pages":"132-140"},"PeriodicalIF":1.3,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10169092","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

Evaluation of fetal myocardial performance index in gestational diabetes mellitus 妊娠期糖尿病胎儿心肌功能指标的评价

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-07-26 DOI: 10.1111/cga.12531

Merve Ozturk, Zahid Agaoglu, Filiz Halici Ozturk, Kadriye Yakut, Fatma Doğa Öcal, Yuksel Oguz, Turhan Caglar

{"title":"Evaluation of fetal myocardial performance index in gestational diabetes mellitus","authors":"Merve Ozturk, Zahid Agaoglu, Filiz Halici Ozturk, Kadriye Yakut, Fatma Doğa Öcal, Yuksel Oguz, Turhan Caglar","doi":"10.1111/cga.12531","DOIUrl":"10.1111/cga.12531","url":null,"abstract":"This study aimed to compare fetal myocardial performance index (MPI) between fetuses of pregnant women with gestational diabetes mellitus (GDM) and healthy controls and to evaluate the relationship between MPI and maternal glucose levels. This was a prospective study of 90 pregnant women, including 50 pregnancies with GDM (27 pregnancies with insulin-regulated GDM and 23 pregnancies with diet-regulated GDM) and 40 healthy controls. Isovolumetric contraction time (ICT) + isovolumetric relaxation time (IRT)/ejection time (ET) were used to calculate the MPI (MPI = [ICT + IRT]/ET). Fetal MPI, PR interval, E/A ratio, maternal plasma glucose levels on the day of MPI measurement, and neonatal outcomes were compared. The fetal left-MPI was significantly higher in the GDM group than healthy controls (0.43 ± 0.04 vs. 0.40 ± 0.06, p = 0.007). The best cut-off level for MPI was >0.41 to predict adverse perinatal outcomes (sensitivity: 70%, specificity: 68%, area under the curve: 0.715, 95% confidence interval: 0.5143–0.8205, p < 0.001). The fetal MPI values showed no correlation with maternal plasma fasting, postprandial glucose, and hemoglobin A1c (HbA1c) levels. Reduced E/A ratio, higher neonatal intensive care unit admissions, and the need for cesarean delivery were detected in the GDM group. Fetal MPI is impaired in women with GDM, and the need for insulin therapy is associated with higher MPI values and adverse neonatal outcomes. Fetal MPI can help detect fetuses with potential adverse outcome risks, owing to impaired fetal cardiac function.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 5","pages":"164-169"},"PeriodicalIF":1.3,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10169085","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

Perinatal diagnosis of congenital urogenital sinus abnormality 先天性泌尿生殖窦畸形的围产期诊断

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-06-05 DOI: 10.1111/cga.12528

Riccardo Fiorentino, Saverio La Bella, Valentina Chiavaroli, Chiara Cauzzo, Simona Di Credico, Maria Enrica Miscia, Giuseppe Lauriti, Gabriele Lisi, Francesco Chiarelli, Susanna Di Valerio

引用次数: 1

Prevention of cleft lip and/or palate in A/J mice by licorice solution 甘草溶液对A/J小鼠唇腭裂的预防作用

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-06-03 DOI: 10.1111/cga.12527

Ichinnorov Chimedtseren, Teruyuki Niimi, Makoto Inoue, Hiroo Furukawa, Hideto Imura, Katsuhiro Minami, Ariuntuul Garidkhuu, Anar-Erdene Gantugs, Nagato Natsume

{"title":"Prevention of cleft lip and/or palate in A/J mice by licorice solution","authors":"Ichinnorov Chimedtseren, Teruyuki Niimi, Makoto Inoue, Hiroo Furukawa, Hideto Imura, Katsuhiro Minami, Ariuntuul Garidkhuu, Anar-Erdene Gantugs, Nagato Natsume","doi":"10.1111/cga.12527","DOIUrl":"10.1111/cga.12527","url":null,"abstract":"Cleft lip and/or palate anomalies (CL ± P) are the most frequent birth defects affecting the orofacial region in humans. Although their etiology remains unclear, the involvement of environmental and genetic risk factors is known. This observational study aimed to investigate how the use of crude drugs with estrogen activity influenced an animal model's ability to prevent CL ± P. A/J mice were randomly divided into six experimental groups. Five of these groups consumed a drink containing crude drug licorice root extract, with the following weights attributed to each group: 3 g in group I, 6 g in group II, 7.5 g in group III, 9 g in group IV, and 12 g in group V, whereas a control group consumed tap water. The effect of licorice extract was examined for fetal mortality and fetal orofacial cleft development compared to the control group. The rates for fetal mortality were 11.28%, 7.41%, 9.18%, 4.94%, and 7.90% in groups I, II, III, IV, and V, respectively, compared to 13.51% in the control group. There were no significant differences in the mean weight of alive fetuses in all five groups compared to the control group (0.63 ± 0.12). Group IV showed the lowest orafacial cleft occurrence of 3.20% (8 fetuses) with statistical significance (p = 0.0048) out of 268 live fetuses, whereas the control group had the occurrence of 8.75% (42 fetuses) among 480 live fetuses. Our study showed that the dried licorice root extract may reduce orofacial birth defects in experimental animal studies.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 5","pages":"141-146"},"PeriodicalIF":1.3,"publicationDate":"2023-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10537297","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

Novel variants in the PAX6 gene related to isolated aniridia PAX6基因与分离性无虹膜相关的新变异

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-05-16 DOI: 10.1111/cga.12520

Katarzyna Kuchalska, Anna Wawrocka, Maciej R. Krawczynski

{"title":"Novel variants in the PAX6 gene related to isolated aniridia","authors":"Katarzyna Kuchalska, Anna Wawrocka, Maciej R. Krawczynski","doi":"10.1111/cga.12520","DOIUrl":"10.1111/cga.12520","url":null,"abstract":"Aniridia, which is a rare congenital defect of the eye, consists of iris hypoplasia or aplasia, and additional ocular abnormalities. It is most commonly caused by autosomal dominant PAX6 gene mutations. However, in about 30% of cases, it is associated with chromosomal rearrangements in the 11p13 region. The aim of this study was to identify the potential PAX6 gene variants, which could cause the isolated aniridia. Eight patients with isolated aniridia were included in this study. MLPA analysis allowed in the past to exclude large structural rearrangements of the PAX6 and adjacent genes like WT1. Blood samples were collected from the patients (and their families in familial cases) and genomic DNA was extracted from peripheral blood leukocytes and buccal cells. The amplification of the 11 exons of the PAX6 gene was performed. Bidirectional Sanger Sequencing was conducted for the identification of the potentially pathogenic variants, and for the segregation analysis of the identified variant in the family. The results were analyzed with the use of CodonCode Aligner software. In three patients, aniridia was sporadic, whereas in another five cases, the eye defect was familial. The potentially pathogenic variants in the PAX6 gene were found in 6 out of 8 patients with aniridia. We identified four known (c.781C > T, c.607C > T, and c.949C > T twice), and two novel variants (c.258_265del and c.495_496insG). Point mutations in the PAX6 gene are the most frequent cause of aniridia. The investigation of the genetic background of the disease is essential for patients to evaluate recurrence risk in the offspring.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 4","pages":"109-115"},"PeriodicalIF":1.3,"publicationDate":"2023-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10119136","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

A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis 一种新的纯合剪接位点变异在CERS3引起常染色体隐性先天性鱼鳞病

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-05-01 DOI: 10.1111/cga.12518

Hamadia Jan, Naveed Wasif, Syed Kamran-ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad

{"title":"A novel homozygous splice site variant in CERS3 causes autosomal recessive congenital ichthyosis","authors":"Hamadia Jan, Naveed Wasif, Syed Kamran-ul-Hassan Naqvi, Imran Ullah, Wasim Ahmad","doi":"10.1111/cga.12518","DOIUrl":"10.1111/cga.12518","url":null,"abstract":"F IGURE 1 (A) Pedigree drawing of a family segregating autosomal recessive congenital ichthyosis. The circles symbolize females and the squares male individuals of the family. A shaded circle or square represents an affected while an unshaded symbol represents normal individuals. Double lines specify consanguineous marriages. Roman and Arabic numbers define the generation position and the number of members within a generation in pedigree. Those members whose blood was collected are represented with asterisks (*) in the pedigree. (B) The affected individual (IV-5) had skin dryness and black scales on the back of the neck, elbow, back, and legs. Stiff and hard skin at hands, and hyperkeratosis over feet in an affected individual (IV-4). (C) Sequencing chromatogram illustrating sequencing of the coding exon 8 of CERS3 in the affected, carrier, and normal individual. The black arrow indicates the nucleotide change in the sequence. (D) CERS3 gene and protein structure. The gene consists of 13 exons. Ceramide synthase 3 has a homeobox domain (gray), six transmembrane domains (TMD; dark blue), and a cytoplasmic domain (orange). Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of nonsyndromic inherited ichthyosis seen at birth and characterized by hyperkeratosis and scaling. To date, variants in 14 different genes, including TGM1, CERS3, ABCA12, ALOX12B, ALOXE3, CYP4F2, NIPAL4, PNPLA1, CYP4F22, ST14, SDR9C7, SULT2B1, SLC27A4, and LIPN causing ARCI have been reported. The study here reports a Received: 3 October 2022 Revised: 19 February 2023 Accepted: 22 March 2023","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 4","pages":"127-128"},"PeriodicalIF":1.3,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9778424","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

Examining the relationship between autism spectrum disorder and neural tube defects 探讨自闭症谱系障碍与神经管缺陷的关系

IF 1.3 4区医学

Congenital Anomalies Pub Date : 2023-04-18 DOI: 10.1111/cga.12516

Margaret Hasler, Ülgen S. Fideli, Apryl Susi, Elizabeth Hisle-Gorman

{"title":"Examining the relationship between autism spectrum disorder and neural tube defects","authors":"Margaret Hasler, Ülgen S. Fideli, Apryl Susi, Elizabeth Hisle-Gorman","doi":"10.1111/cga.12516","DOIUrl":"10.1111/cga.12516","url":null,"abstract":"Folate and vitamin B12 deficiencies have been strongly associated with neural tube defects, preliminary research suggests folate and B12 deficiency may also be associated with autism spectrum disorder (ASD). We examined the association between neural tube defects and ASD as a further avenue to examine the hypothesis that ASD is related to maternal folate and B12 deficiency during pregnancy. A retrospective case–control study was performed using the Military Health System Data Repository. Cases and matched controls were followed from birth until at least 6 months after their first autism diagnosis. International Classification of Diseases, 9th Revision, codes were used to identify neural tube defects in the health records. A total of 8760 cases between the ages of 2 and 18 years were identified. The prevalence of any neural tube defect was 0.11% in children without ASD and 0.64% in children with ASD. Children with autism were over 6 times as likely to have a neural tube defect. The increased odds of neural tube defect in children diagnosed with ASD, found through our methodology, supports prior studies. Although additional studies are needed to elucidate the relationship between ASD and maternal folate and vitamin B12 deficiency during pregnancy this study supports their use during pregnancy.","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"63 4","pages":"100-108"},"PeriodicalIF":1.3,"publicationDate":"2023-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10118634","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