Pub 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
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.
{"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}
Pub 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}
Pub Date : 1999-09-01DOI: 10.1111/j.1741-4520.1999.tb00556.x
Andrew E. Czeizel, M. Rockenbauer, Henrik T Sørensen, Jørn Olsen
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.
该研究的目的是在匈牙利1980-1996年先天性异常病例对照监测的人口数据集中，检查三种青霉素G在妊娠期间的人类致畸潜力:青霉素、青霉素-普鲁卡因和青霉素+青霉素-普鲁卡因的肠外治疗。在38151名无任何缺陷婴儿的孕妇(人口对照组)中，303名(0.8%)接受青霉素G治疗。在22865名有先天性异常后代的孕妇中，236名(1.1%)接受青霉素G治疗(粗OR值，95% CI = 1.3, 1.1-1.5)。在812名分娩患有唐氏综合症婴儿的母亲(患者对照组)中，15名(1.8%)接受了青霉素G治疗，这一比率明显超过了病例组和人群对照组的数字。这一发现需要进一步研究。病例对照分析未显示在妊娠第二至第三个月，即主要先天性异常的关键时期，三种静脉注射青霉素G治疗有致畸风险。青霉素G的较低使用主要是由人群对照组的回忆偏倚解释的。因此，妊娠期静脉注射青霉素G治疗不会对胎儿产生可检测到的致畸风险。
{"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}
Pub Date : 1997-12-01DOI: 10.1111/j.1741-4520.1997.tb00978.x
Yoshiko Shiroshita, S. Katayama
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.
{"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}
Pub Date : 1997-12-01DOI: 10.1111/j.1741-4520.1997.tb00977.x
M. Naya, M. Yasuda
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.
{"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}
Pub 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}
Pub Date : 1997-11-30DOI: 10.1016/s0168-0102(97)82095-0
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}
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