Congenital Anomalies最新文献

{"title":"Risk factors for isolated congenital heart defects in infants from Western Mexico","authors":"Jessica Paola Cruz-Cruz,&nbsp;Rafael Nieto-García,&nbsp;Pascuala Berenice Rivera-Ramírez,&nbsp;Christian Peña-Padilla,&nbsp;Lucina Bobadilla-Morales,&nbsp;Alfredo Corona-Rivera,&nbsp;Víctor Ulises Rodríguez-Machuca,&nbsp;Sandra Rocio Valdez-Muñoz,&nbsp;Jorge Román Corona-Rivera","doi":"10.1111/cga.12589","DOIUrl":"10.1111/cga.12589","url":null,"abstract":"<p>Congenital heart defects (CHDs) are caused by a complex interaction between numerous genetic and environmental risk factors, some of which may differ between different populations. A case–control study was conducted among 1232 newborns, including 308 patients with isolated CHDs (cases) and 924 infants without birth defects (controls), born all during the period 2009–2023 at the Hospital Civil de Guadalajara “Dr. Juan I. Menchaca” (Guadalajara, Mexico). Potential parental risk factors for CHDs were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. Consanguinity [adjusted odds ratio (aOR) = 3.3; 95% confidence interval (CI) 1.3–8.5], relatives with CHD (aOR = 8.5; 95% CI 5.3–13.8), maternal first-trimester exposure to diabetes (aOR = 3.5; 95% CI 2.4–5.1), hypertension (aOR = 2.6; 95% CI 1.5–4.4), alcohol consumption (aOR = 1.5; 95% CI 1.0–2.1), and illicit drug use (aOR = 2.4; 95% CI 1.2–5.3), as well as for the paternal history of alcohol consumption (aOR = 1.4; 95% CI 1.0–1.8) and illicit drug use (aOR = 2.7; 95% CI 1.7–4.1), were associated with CHDs. Contrarily, aOR for maternal age ≤19 years (aOR = 0.6; 95% CI 0.4–0.8) and maternal first-trimester coffee consumption (aOR = 0.7; 95% CI 0.5–0.9) have protective odds. Our results suggest that genetic factors, maternal diseases, environmental exposures, and reproductive factors can increase the occurrence of isolated CHDs in our sample, and they are discussed as clues in its pathogenesis.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901228","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}

{"title":"The role of sonic hedgehog signaling in the oropharyngeal epithelium during jaw development","authors":"Rika Takeuchi,&nbsp;Masaki Takechi,&nbsp;Worachat Namangkalakul,&nbsp;Youichirou Ninomiya,&nbsp;Toshiko Furutera,&nbsp;Kazushi Aoto,&nbsp;Daisuke Koyabu,&nbsp;Noritaka Adachi,&nbsp;Katsuhiko Hayashi,&nbsp;Masataka Okabe,&nbsp;Sachiko Iseki","doi":"10.1111/cga.70001","DOIUrl":"10.1111/cga.70001","url":null,"abstract":"<p><i>Sonic hedgehog</i> (<i>Shh</i>) is expressed in the oropharyngeal epithelium, including the frontonasal ectodermal zone (FEZ), which is defined as the boundary between <i>Shh</i> and <i>Fgf8</i> expression domains in the frontonasal epithelium. To investigate the role of SHH signaling from the oropharyngeal epithelium, we generated mice in which <i>Shh</i> expression is specifically deleted in the oropharyngeal epithelium (<i>Isl1-Cre; Shh</i>^<i>f/f</i>). In the mutant mouse, <i>Shh</i> expression was excised in the oropharyngeal epithelium as well as FEZ and ventral forebrain, consistent with the expression pattern of <i>Isl1</i>. <i>Isl1-Cre; Shh</i>^<i>f/f</i> mice exhibited a complete loss of lower jaw components and a malformed upper jaw with defects in the cranial base and secondary palate. Massive cell death was observed in the mandibular process at embryonic day (E) 9.5 and E10.5, while mild cell death was observed in the lambdoidal region (the fusion area in the maxillary, lateral nasal, and medial nasal processes) at E10.5. An RNA-seq analysis revealed that <i>Satb2</i>, a gene involved in cell survival during jaw formation, was downregulated in the lambdoidal region in <i>Isl1-Cre; Shh</i>^<i>f/f</i> mice. These results suggest that <i>Shh</i> expression in the FEZ is required for cell survival and skeletogenesis in the lambdoidal region during the development of the upper jaw and that the developmental control governed by SHH signaling is different between upper and lower jaws.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142901229","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}

{"title":"Polysplenia and developmental delay in a case of microduplication in the 1p36.11 region involving the ARID1A gene","authors":"Machiko Kataoka,&nbsp;Yukiko Kuroda,&nbsp;Hiroyuki Tanaka,&nbsp;Ayami Sato,&nbsp;Motohiro Kato","doi":"10.1111/cga.70000","DOIUrl":"10.1111/cga.70000","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878903","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}

{"title":"Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome","authors":"Yu Yamaguchi,&nbsp;Hironobu Okuno,&nbsp;Suzumi Tokuoka,&nbsp;Yoshihiro Kita,&nbsp;Tsukasa Sanosaka,&nbsp;Jun Kohyama,&nbsp;Kenji Kurosawa,&nbsp;Norio Sakai,&nbsp;Fuyuki Miya,&nbsp;Takao Takahashi,&nbsp;Kenjiro Kosaki,&nbsp;Hideyuki Okano","doi":"10.1111/cga.12587","DOIUrl":"https://doi.org/10.1111/cga.12587","url":null,"abstract":"<p>Sjögren-Larsson syndrome (SLS) is an autosomal recessive leukodystrophy characterized by ichthyosis, intellectual disability, and progressive spastic paralysis caused by biallelic pathogenic variants in the <i>ALDH3A2</i> gene that encodes the fatty aldehyde dehydrogenase, fatty aldehyde dehydrogenase (FALDH); FALDH catalyzes several metabolic reactions involved in fatty aldehyde oxidation. Only a few studies have been performed to determine the lipid profile of patients with SLS. In a previous postmortem study of the brain of a 65-year-old patient with SLS, lipidomic analysis revealed an accumulation of long-chain unsaturated ether lipid species in the white matter and gray matter. In the present study, we established a disease model using patient-derived neuronal and oligodendrocyte lineage cells to analyze the lipid metabolism and gene expression profiles in SLS. To achieve this, we generated induced pluripotent stem cells (iPSCs) from two patients with the SLS phenotype carrying previously known <i>ALDH3A2</i> pathogenic variants: One was a compound heterozygote (c.1339A&gt;G:p.(Lys447Glu) and c.57_132dup:p.(Ile45Serfs*34)) and the other was a homozygote (c.1339A&gt;G: p.(Lys447Glu)). The FALDH activity was almost zero in the SLS-iPSC lines established from both patients. Phospholipid analysis of neurospheres, and oligospheres (spheres enriched with oligodendrocyte-lineage cells) derived from the iPSCs by liquid chromatography-mass spectrometry showed accumulation of ether phospholipids in the Sjögren-Larsson patient-derived neurospheres and oligospheres. The results are consistent with the previously reported accumulation of ether lipids in the postmortem brain tissue of an SLS patient. Therefore, iPSCs and iPSC-derived neurospheres and oligospheres established from SLS patients can be useful tools for future pathological analysis of the central nervous system pathophysiology in SLS.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12587","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142762304","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}

{"title":"A case series study on the safety of cefditoren pivoxil use during the first trimester of pregnancy in Japan","authors":"Mariko Honma,&nbsp;Naoto Suzuki,&nbsp;Mikako Goto,&nbsp;Taku Obara,&nbsp;Yoshiyuki Saito,&nbsp;Ken Nakajima,&nbsp;Ritsuko Yamane,&nbsp;Kunihiko Takahashi,&nbsp;Takeo Nakayama,&nbsp;Masahiro Hayashi,&nbsp;Atsuko Murashima,&nbsp;Akira Toyama","doi":"10.1111/cga.12588","DOIUrl":"https://doi.org/10.1111/cga.12588","url":null,"abstract":"<p>We evaluated the teratogenic risk associated with exposure to cefditoren pivoxil during the first trimester of pregnancy using the integrated databases of the Toranomon Hospital and the National Center for Child Health and Development. Among 13 599 registered individuals, the analysis included 285 subjects who had taken cefditoren pivoxil during the first trimester of pregnancy. The rates of stillbirth, miscarriage, and elective terminations were 0.4%, 5.6%, and 2.1%, respectively. Among 262 live births, the rates of preterm birth, low birth weight, and major congenital malformations were 4.6%, 5.7%, and 1.2%, respectively. Our results suggest that exposure to cefditoren pivoxil during the first trimester of pregnancy does not significantly increase the risk of adverse pregnancy outcomes and infant outcomes.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142762432","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}

{"title":"Feelings and thoughts about life selection in pregnant women undergoing non-invasive prenatal testing in Japan","authors":"Eri Takeda,&nbsp;Nobuhiro Suzumori,&nbsp;Kyoko Kumagai,&nbsp;Chisato Komata,&nbsp;Yumiko Nishimura,&nbsp;Mayumi Sugiura-Ogasawara","doi":"10.1111/cga.12586","DOIUrl":"10.1111/cga.12586","url":null,"abstract":"<p>The objective of this study was to conduct qualitative research by clarifying the thoughts of pregnant women undergoing non-invasive prenatal testing (NIPT) in Japan, to collect evidence to provide information and psychosocial support in genetic counseling (GC). We attempted to conduct qualitative research to provide support for GC and the society in relation to children with special needs, by clarifying the thoughts of pregnant women undergoing NIPT. Between January 2016 and December 2017, we administered an open-ended questionnaire to pregnant Japanese women undergoing NIPT to clarify their ethical views in relation to children with special needs. The target population included 754 pregnant women who described their feelings and thoughts about undergoing NIPT and about children with special needs. Pregnant women undergoing NIPT have a variety of various mixed feelings and concerns. We classified the feelings and thoughts of pregnant women who underwent NIPT into the following four primary categories (multiple classifications): (1) perception about people with special needs (18.0%); (2) relation between NIPT and life selection (22.3%); (3) attitudes towards undergoing NIPT (47.5%); and (4) negative feelings and thoughts about raising children with special needs (48.1%). Most pregnant women undergoing NIPT expressed negative feelings and raising children with special needs. These feelings and thoughts may be one of the reasons why pregnant women undergo NIPT. In GC, it is important to also provide wide information on the social support and the current situation in the actual life of children with special needs.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"65 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142717167","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}

{"title":"Acknowledgement","authors":"","doi":"10.1111/cga.12585","DOIUrl":"https://doi.org/10.1111/cga.12585","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"260"},"PeriodicalIF":1.3,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142579781","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}

{"title":"Acoustic evaluation of voice signal distortion by videoconferencing platforms and devices used in telepractice for cleft palate","authors":"Shiho Tajiri,&nbsp;Shunsuke Hidaka,&nbsp;Shuhei Takehisa,&nbsp;Sachiyo Hasegawa,&nbsp;Yukiko Ohyama,&nbsp;Tomohiro Yamada","doi":"10.1111/cga.12584","DOIUrl":"10.1111/cga.12584","url":null,"abstract":"<p>The usefulness and effectiveness of telepractice have been reported in recent years. Treatment of cleft palate patients with compensatory articulation is based on perceptual identification. Telepractice using videoconferencing platforms causes voice signal distortion and impacts auditory-perceptual perception. This study aimed acoustically examine voice signal distortion and determine the optimal videoconferencing platforms, in addition to the phonemes that can be discriminated with the same quality as in face-to-face interactions. ATR503 with 50 phoneme-balanced Japanese speech sentences was used as a reference corpus. Four videoconferencing platforms, —Zoom, Cisco Webex, Skype, and Google Meet, —and five devices, —iPhone, Android, iPad Air, Windows, and MacBook Pro were used as transmission conditions to examine voice signal distortions with the objective measure log-spectral distortion (LSD). Tukey's test was conducted to evaluate the degree of consonant distortion related to voicings (voiceless and voiced), places of articulation (bilabial, alveolar, alveolo-palatal, palatal, velar, labial-velar, and glottal), and manners of articulation (plosive, fricative, affricate, tap or flap, nasal, and approximant). With statistically significant differences, voiced, bilabial, labial-velar, nasal, and plosive consonants exhibited smaller distortions. In contrast, voiceless, alveolo-palatal, fricative, and affricate consonants exhibited larger distortions. Google Meet exhibited the lowest distortion among videoconferencing platforms and MacBook exhibited the lowest distortion among devices. This study provides significant insights into the telepractice strategies with the appropriate videoconferencing platform and device, and useful settings for cleft palate patients with compensatory articulations with respect to acoustics.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"242-253"},"PeriodicalIF":1.3,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cga.12584","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395950","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}

{"title":"Genitourinary and craniofacial/cervicothoracic anomalies in a neonate with in-utero mycophenolate mofetil exposure","authors":"Sayu Omori-Shimano,&nbsp;Kazushige Ikeda,&nbsp;Jun Miyauchi,&nbsp;Maki Fukami","doi":"10.1111/cga.12583","DOIUrl":"10.1111/cga.12583","url":null,"abstract":"","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"257-259"},"PeriodicalIF":1.3,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142303410","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}

{"title":"Congenital cytomegalovirus and pulmonary hypertension","authors":"Layah Alkoby-Meshulam,&nbsp;Jacob Amir,&nbsp;Daniel Lubin,&nbsp;Gil Klinger,&nbsp;Giora Guttesman,&nbsp;Samuel Zangen,&nbsp;Efraim Bilavsky","doi":"10.1111/cga.12580","DOIUrl":"10.1111/cga.12580","url":null,"abstract":"<p>Lung involvement in children with congenital cytomegalovirus infection has been scarcely described. We describe three new cases of persistent pulmonary hypertension in children with congenital cytomegalovirus and review the other seven cases reported in the literature since 1988. All children had a symptomatic infection, including severe central nervous system or visceral findings. Morbidity and mortality were high. Persistent pulmonary hypertension may be a rare complication in severely symptomatic congenital cytomegalovirus infants. It is important to screen for congenital cytomegalovirus in cases of idiopathic refractory persistent pulmonary hypertension. Intensive treatment should be undertaken to treat this potentially rare lung involvement in combination with antiviral treatment.</p>","PeriodicalId":10626,"journal":{"name":"Congenital Anomalies","volume":"64 6","pages":"235-241"},"PeriodicalIF":1.3,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142127659","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}