Congenital anomaliesPub Date : 1999-09-01DOI: 10.1111/j.1741-4520.1999.tb00555.x
S. Yonezawa, S. Masaki, T. Ono, A. Hanai, T. Kageyama, A. Moriyama, S. Sonta
{"title":"Defective Myosin Genes in Mutant Mice and Human Diseases","authors":"S. Yonezawa, S. Masaki, T. Ono, A. Hanai, T. Kageyama, A. Moriyama, S. Sonta","doi":"10.1111/j.1741-4520.1999.tb00555.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00555.x","url":null,"abstract":"Myosins are highly divergent actin‐based molecular motors. In five of eight classes expressed in mammals, defects in genes have been identified in mutant mice and/or human diseases. A mutated myosin II‐7 gene is one of the causes of human familial hypertrophic cardiomyopathy (FHC). The defective myosin Va gene is responsible for Griscelli disease, which is characterized by partial albinism and immunodeficiency, while in its mouse homologue coat color dilution is seen with or without neurological defects. There are three classes of myosins, VI, VII and XV, that are essential in the inner ear function. In humans, mutations in the VIIa gene are associated with three deafness‐related diseases, Usher 1B/DFNB2/DFNA11, providing the first example of exhibition of recessive‐ and dominant‐inherited disorders by different mutations in a single myosin gene.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"92 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74238895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital anomaliesPub Date : 1999-09-01DOI: 10.1111/j.1741-4520.1999.tb00557.x
{"title":"The 39th Annual Meeting of the Japanese Teratology Society, Kagoshima, July 14‐16, 1999","authors":"","doi":"10.1111/j.1741-4520.1999.tb00557.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00557.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"14 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85798984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital anomaliesPub Date : 1999-09-01DOI: 10.1111/j.1741-4520.1999.tb00556.x
Andrew E. Czeizel, M. Rockenbauer, Henrik T Sørensen, Jørn Olsen
{"title":"A Population‐based Case‐Control Teratological Study of Three Parenteral Penicillins G","authors":"Andrew E. Czeizel, M. Rockenbauer, Henrik T Sørensen, Jørn Olsen","doi":"10.1111/j.1741-4520.1999.tb00556.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1999.tb00556.x","url":null,"abstract":"The purpose of the study was to check the human teratogenic potential of three penicillins G: parenteral treatments with benzylpenicillin, benzylpenicillin‐procaine, and benzylpenicillin + benzylpenicillin‐procaine during pregnancy in the population‐based dataset of the Hungarian Case‐Control Surveillance of Congenital Abnormalities, 1980–1996. Of 38,151 pregnant women who had babies without any defects (population control group), 303 (0.8%) were treated with penicillin G. Of 22,865 pregnant women who had offspring with congenital abnormalities, 236 (1.O%) were treated with penicillin G (crude OR with 95% CI = 1.3, 1.1–1.5). Of 812 mothers who deliveried babies affected with Down syndrome (patient controls), 15 (1.8%) had penicillin G treatment, and this rate exceeded significantly the figure of both the case and population control groups. This finding needs further studies. The case‐control pair analysis did not indicate a teratogenic risk of three parenteral penicillin G treatments during the second‐third months of gestation, i.e., in the critical period for major congenital abnormalities. The lower use of penicillins G was explained mainly by recall bias in the population control group. Thus, parenteral penicillin G treatments during pregnancy do not present a detectable teratogenic risk to the fetus.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1999-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84072073","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Anomalies of Cartilaginous and Ossified Axial Skeleton in Rat Fetuses Treated with Cyclophosphamide : Type, Frequency, and Stage Specificity","authors":"永喜 五十嵐","doi":"10.11501/3164419","DOIUrl":"https://doi.org/10.11501/3164419","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"204 1","pages":"39-55"},"PeriodicalIF":0.0,"publicationDate":"1998-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73541295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital anomaliesPub Date : 1997-12-01DOI: 10.1111/j.1741-4520.1997.tb00978.x
Yoshiko Shiroshita, S. Katayama
{"title":"Carrier Diagnosis of Duchenne Muscular Dystrophy Using Fluorescent CA Repeat Polymorphism","authors":"Yoshiko Shiroshita, S. Katayama","doi":"10.1111/j.1741-4520.1997.tb00978.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00978.x","url":null,"abstract":"The diagnostic efficacy was compared between the fluorescent CA repeat polymorphism analysis and polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) analysis for carrier diagnosis of Duchenne muscular dystrophy. Nine females from seven pedigrees were examined. Polymorphic alleles were examined by the fluorescent labelling method in eight loci within the dystrophin gene. PCR‐RFLP analysis was performed in a total of six loci within the dystrophin gene. Carrier diagnosis could not be made in three females of two pedigrees due to an inability to detect polymorphic alleles by PCR‐RFLP. In contrast, CA repeat polymorphism analysis allowed successful carrier diagnosis in nine subjects. These findings suggest that the fluorescent CA repeat polymorphism analysis provides a simple, safe and effective alternative to PCR‐RFLP analysis for carrier diagnosis of Duchenne muscular dystrophy.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82555886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital anomaliesPub Date : 1997-12-01DOI: 10.1111/j.1741-4520.1997.tb00977.x
M. Naya, M. Yasuda
{"title":"Effects of Glutathione and Related Compounds on Teratogenicity of 5‐Fluorouracil or Cadmium Hydrochloride in Mice *","authors":"M. Naya, M. Yasuda","doi":"10.1111/j.1741-4520.1997.tb00977.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00977.x","url":null,"abstract":"Glutathione (GSH) is a tripeptide consisting of cysteine, glutamic acid and glycine, and plays an important role in detoxification reactions. In this report, we describe (1) the effects of the depleting agents of GSH such as diethylmaleate (DEM), phorone, and buthionine sulfoximine (BSO) on teratogenicity of 5‐fluorouracil (5‐FU) in mice, (2) the effects of GSH or N‐acetyl‐L‐cysteine (NAC), a precursor of GSH on teratogenicity of 5‐FU or cadmium hydrochloride (Cd) in mice. Pregnant ICR mice were injected intra‐peritoneally (i.p.) with 5‐FU at dose levels of 20, 25, and 30 mg/kg on day 11 of gestation (vaginal plug = day 0). Mice were injected i.p. with DEM, phorone, or BSO 4 to 6 hours before dosing with 5‐FU. Mice were also pretreated intravenously (i.v.) with GSH at dose levels of 150, 300 and 600 mg/kg, or NAC at dose levels of 80, 160, and 320 mg/kg 0.5 to 2 hours before dosing with 5‐FU. In the Cd‐teratogenicity study, mice were injected i.v. with GSH or NAC before dosing with Cd at 3.5 mg/kg i.p. on day 11 of gestation. Pretreatment with DEM, phorone or BSO increased the incidence of oligodactyly induced by 5‐FU, while pretreatment with GSH or NAC decreased the incidences. Pretreatment with GSH or NAC decreased the incidence of cleft palate and abnormal palatal rugae induced by Cd. The results suggest that cysteine plays a key role in the teratogenicity of 5‐FU or Cd in mice.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"30 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89088560","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Congenital anomaliesPub Date : 1997-12-01DOI: 10.1111/j.1741-4520.1997.tb00979.x
M. Edwards, Murray Smith, B. Stewart, F. Atkinson
{"title":"PROCEEDINGS OF THE 5TH SCIENTIFIC MEETING OF THE INTERNATIONAL FEDERATION OF TERATOLOGY SOCIETIES","authors":"M. Edwards, Murray Smith, B. Stewart, F. Atkinson","doi":"10.1111/j.1741-4520.1997.tb00979.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1997.tb00979.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"16 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1997-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81544559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Funahashi, K. Dekker-Ohno, Y. Takagishi, S. Oda, M. Inouye
{"title":"Developmental Alteration of Local Circuits in the Somatosensory Cortex of the Ataxic Mutant Rat : Poster Sessions","authors":"A. Funahashi, K. Dekker-Ohno, Y. Takagishi, S. Oda, M. Inouye","doi":"10.1016/s0168-0102(97)82095-0","DOIUrl":"https://doi.org/10.1016/s0168-0102(97)82095-0","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"7 1","pages":"308"},"PeriodicalIF":0.0,"publicationDate":"1997-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84667490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}