Congenital anomalies最新文献

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Personal Remembrances of Dr. Karl‐Heinz Degenhardt (1920–1994) 卡尔-海因茨·德根哈特博士个人回忆(1920-1994)
Congenital anomalies Pub Date : 1994-09-01 DOI: 10.1111/J.1741-4520.1994.TB00598.X
H. Yamamura
{"title":"Personal Remembrances of Dr. Karl‐Heinz Degenhardt (1920–1994)","authors":"H. Yamamura","doi":"10.1111/J.1741-4520.1994.TB00598.X","DOIUrl":"https://doi.org/10.1111/J.1741-4520.1994.TB00598.X","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80920297","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}
引用次数: 0
Molecular Genetic Techniques for Prenatal Diagnosis * 分子遗传学技术用于产前诊断*
Congenital anomalies Pub Date : 1994-09-01 DOI: 10.1111/j.1741-4520.1994.tb00599.x
K. Suzumori, M. Tanemura, R. Adachi
{"title":"Molecular Genetic Techniques for Prenatal Diagnosis *","authors":"K. Suzumori, M. Tanemura, R. Adachi","doi":"10.1111/j.1741-4520.1994.tb00599.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00599.x","url":null,"abstract":"Abstract Recently, molecular genetic techniques have been rapidly incorporated into routine clinical as well as laboratory medicine, and genetic diseases including inborn errors of metabolism have come to be diagnostically viewed as changes in DNA. Molecular genetic techniques have the advantage that rapid and accurate analysis can be made with a small amount of samples in comparison with analysis at the protein level by conventional biochemical techniques. They are, therefore, clinically used today not only for the diagnosis of various genetic diseases but also for the detection of infection, including viral infections, in the outpatient clinic. They have also been applied to fetal diagnosis, and are bringing about major changes in prenatal medicine.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73855752","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}
引用次数: 1
Symbrachydactyly of the Foot Associated with Absence of the Contralateral Pectoralis Major Muscle 对侧胸大肌缺失伴足短指联合畸形
Congenital anomalies Pub Date : 1994-09-01 DOI: 10.1111/j.1741-4520.1994.tb00600.x
T. Uchida, T. Kojima, M. Konno
{"title":"Symbrachydactyly of the Foot Associated with Absence of the Contralateral Pectoralis Major Muscle","authors":"T. Uchida, T. Kojima, M. Konno","doi":"10.1111/j.1741-4520.1994.tb00600.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00600.x","url":null,"abstract":"Abstract A two‐year‐old girl who presented with Symbrachydactyly of the left foot associated with the absence of the right pectoralis major muscle was treated with phalangization of the toes. No other abnormalities were noted. The operative procedure was performed in two stages, separated by eight months. Excellent cosmetic and functional results were obtained. The combination of Symbrachydactyly of the foot and congenital absence of the contralateral pectoralis major muscle is extremely rare.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"33 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76782412","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}
引用次数: 1
Susceptibility of Day‐12.5 and Day‐13.5 Fetal Mouse Palates Cultured in Vitro to 5‐Fluorouracil and Hydroxyurea 体外培养第12.5天和第13.5天胎鼠腭对5 -氟尿嘧啶和羟基脲的敏感性
Congenital anomalies Pub Date : 1994-09-01 DOI: 10.1111/j.1741-4520.1994.tb00601.x
T. Kosazuma, S. Kawauchi, M. Chou, K. Shiota
{"title":"Susceptibility of Day‐12.5 and Day‐13.5 Fetal Mouse Palates Cultured in Vitro to 5‐Fluorouracil and Hydroxyurea","authors":"T. Kosazuma, S. Kawauchi, M. Chou, K. Shiota","doi":"10.1111/j.1741-4520.1994.tb00601.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00601.x","url":null,"abstract":"Abstract The maxillary regions of day‐12.5 and day‐13.5 ICR mouse fetuses were cultivated in a chemically‐defined serumless medium by a suspension culture technique to examine the toxic effects of 5‐fluorouracil (5‐FU) and hydroxyurea (HU) on cultured palates and to compare the sensitivity of fetal mouse palates at different stages of development. The palates of day‐12.5 and day‐13.5 fetal mice were explanted and exposed in vitro for 72 hr to 0.1–50 μg 5‐FU/ml or to 5–76 μg HU/ml. 5‐FU inhibited the growth and fusion of day‐12.5 palatal shelves in vitro dependently on its concentrations. Day‐13.5 palates were significantly less sensitive to 5‐FU than day‐12.5 palates, and the minimal toxic concentrations (MTCs) of 5‐FU were 0.1 and 10 μg/ml for day‐12.5 and day‐13.5 fetal palates, respectively. HU inhibited the in vitro growth and fusion of day‐12.5 fetal palatal shelves in a concentration dependent manner, but only slightly suppressed the growth of day‐13.5 fetal palates. The MTCs of HU were 19 and 76 μg/ml for day‐12.5 and day‐13.5 fetal palates, respectively. Therefore, day‐12.5 fetal mouse palates (at stage‐1 or earlier stages of palatogenesis) seemed significantly more susceptible to these teratogenic chemicals than day‐13.5 fetal palates (at stages 2–3 of palatogenesis). The palates of day‐12.5 ICR fetal mice may be more suitable than day‐13.5 palates for in vitro teratogen screening and for the study of mechanisms of normal and abnormal palatogenesis.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90782195","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}
引用次数: 8
Program 程序
Congenital anomalies Pub Date : 1994-09-01 DOI: 10.1111/j.1741-4520.1994.tb00602.x
T. Kurashige
{"title":"Program","authors":"T. Kurashige","doi":"10.1111/j.1741-4520.1994.tb00602.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00602.x","url":null,"abstract":"","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"4 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80210208","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}
引用次数: 0
Neurochemical Correlates of Learning Impairment in Microen‐cephalic Rats Induced by Methylazoxymethanol Acetate * 甲基甲氧甲醇醋酸酯诱导的小头畸形大鼠学习障碍的神经化学相关因素*
Congenital anomalies Pub Date : 1994-03-01 DOI: 10.1111/j.1741-4520.1994.tb00267.x
M. Tamaru
{"title":"Neurochemical Correlates of Learning Impairment in Microen‐cephalic Rats Induced by Methylazoxymethanol Acetate *","authors":"M. Tamaru","doi":"10.1111/j.1741-4520.1994.tb00267.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00267.x","url":null,"abstract":"ABSTRACTNewborn infants with histogenetic brain malformations can be long‐lived with mental retardation, which is considered a major problem in social medicine. Among these infants with mental retardation, many cases are accompanied by microencephaly. Experimentally induced microencephaly in rats presents a useful model for understanding human cerebral disorders. We have studied how neurochemical changes in the brains of microencephalic rats induced by prenatal treatment with methylazoxymethanol acetate (MAM) can affect their learning abilities. We reported that densities of monoaminergic transmitters in the atrophic cerebral hemisphere (CH; consisting of cerebral cortex and hippocampus) of MAM rats was markedly elevated, but that their total quantity per CH unchanged. As for the ability of operant discrimination learning, MAM rats could discriminate tasks. However, excitatory amino acid receptors, in which N‐methyl‐D‐aspartate (NMDA) is well known to be involved in spatial memory, showed decreased total binding in the CH of MAM‐treated rats. Spatial recognition ability evaluated using an 8‐armed radial maze task was impaired. These results suggest that the condensation of monoaminergic terminals in the atrophic CH of MAM rats may compensate for disability in discrimination learning, but the significant reduction of NMDA receptors may impair spatial memory in MAM rats.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75496488","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}
引用次数: 1
Developmental Abnormalities Due to Exposure of Mouse Paternal Germ Cells, Preimplantation Embryos, and Organogenic Embryos to Acrylamide 丙烯酰胺暴露于小鼠父系生殖细胞、着床前胚胎和器官胚胎的发育异常
Congenital anomalies Pub Date : 1994-03-01 DOI: 10.1111/j.1741-4520.1994.tb00269.x
T. Nagao
{"title":"Developmental Abnormalities Due to Exposure of Mouse Paternal Germ Cells, Preimplantation Embryos, and Organogenic Embryos to Acrylamide","authors":"T. Nagao","doi":"10.1111/j.1741-4520.1994.tb00269.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00269.x","url":null,"abstract":"ABSTRACT The developmental toxicity of acrylamide was investigated after paternal germ cells and preimplantation and organogenic embryos were exposed to the agent. In the first experiment, ICR male mice were injected intraperitoneally with single doses of 62.5 or 125 mg/kg acrylamide or daily doses of 50 mg/kg for 5 days. They were mated with untreated virgin ICR female mice on days 1–21 and 64–80 after the last injection. The sperms involved in fertilization during these two periods were postmeiotic germ cells and spermatogonial stem cells, respectively, at the time of acrylamide treatment. The uterine contents were examined on day 18 of gestation for dominant lethal effects, and the fetuses were examined for external malformation. Acrylamide exposure during the postmeiotic cell or spermatogonial stem cell stage caused no significant increases in the incidence of abnormal fetuses. Dominant lethals, however, were clearly induced when the germ cells had been postmeiotic at the time of acrylamide exposure. In the second experiment, ICR mice were injected intraperitoneally with a single dose of 125 mg/kg acrylamide on day 0, 1, 2, or 3 of gestation. The uterine contents were examined on day 18 of gestation. Acrylamide treatment on day 0 of gestation caused a significant increase in the incidence of malformed fetuses, while treatment on day 1, 2, or 3 of gestation failed to cause an increase in malformation. Polydactyly was the most common type of abnormality. In the third experiment, pregnant mice were treated with three daily doses of 50 or 100 mg/kg acrylamide on days 6–8 or 9–11 of gestation, respectively. There was no significant difference between the incidence of malformed fetuses in the control and acrylamide‐treated groups. These experiments demonstrate the vulnerability of preimplantation embryos to the toxic effects of acrylamide, while paternal germ cells and the organogenic embryos are resistant to the induction of fetal malformations.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"43 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91356213","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}
引用次数: 5
Transplacentally‐Administered Enalapril Inhibits the Spontaneous Constriction of the Ductus Arteriosus in the Newborn Rat 经胎盘给药依那普利抑制新生大鼠动脉导管自发收缩
Congenital anomalies Pub Date : 1994-03-01 DOI: 10.1111/j.1741-4520.1994.tb00270.x
T. Takizawa, K. Arishima, Masako Yamamoto, H. Somiya, K. Shiota
{"title":"Transplacentally‐Administered Enalapril Inhibits the Spontaneous Constriction of the Ductus Arteriosus in the Newborn Rat","authors":"T. Takizawa, K. Arishima, Masako Yamamoto, H. Somiya, K. Shiota","doi":"10.1111/j.1741-4520.1994.tb00270.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00270.x","url":null,"abstract":"ABSTRACT Pregnant Wistar rats were given orally enalapril maleate (EM), an angiotensin‐converting enzyme (ACE) inhibitor, 15–60 min prior to Caesarean operation and the diameter of the ductus arteriosus (DA) in the newborn rats was calibrated at intervals after delivery. The caliber of the DA in control newborn rats gradually decreased to less than 10% of the initial value by 90 rnin after delivery. The DA calibers of the newborn rats treated with 50 or 200 mg/kg EM in utero were larger than the controls at any time interval up to 90 rnin and the difference from the control value was significant for at least 30 rnin after delivery when the drug was given to the dam 30 rnin prior to Caesarean section. The present study has demonstrated that transplacentally‐administered enalapril inhibits the spontaneous constriction of the neonatal rat DA and supports the view that ACE inhibitors should not be used late in pregnancy.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"177 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79626112","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}
引用次数: 4
Induction of Congenital Malformations in Mice by Paternal Methylnitrosourea Treatment 父代甲基亚硝基脲诱导小鼠先天性畸形
Congenital anomalies Pub Date : 1994-03-01 DOI: 10.1111/j.1741-4520.1994.tb00272.x
Azusa Wada, T. Nagao
{"title":"Induction of Congenital Malformations in Mice by Paternal Methylnitrosourea Treatment","authors":"Azusa Wada, T. Nagao","doi":"10.1111/j.1741-4520.1994.tb00272.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00272.x","url":null,"abstract":"ABSTRACTA single dose of methylnitrosourea (MNU, 25–100 mg/kg) was injected intraperitoneally into ICR strain male mice. The males were mated to untreated females of the same strain on days 1–21 and 64–80 after the treatment. On day 18 of pregnancy, the fetuses were examined for external and skeletal abnormalities. MNU treatment of paternal germ cells caused significant increases in the incidence of abnormal fetuses over the control level. The induction rate per live fetus per unit dose in mg/kg by treating spermatogonial stem cells was estimated to be 3.0 × 10−4, which is quite similar to the rate previously estimated for the same endpoint at the same germ cell stage with the fractionated doses of MNU (daily doses at 5–25 mg/kg for 5 days). Cleft palate and dwarfism were the most frequent external abnormalities in the MNU‐treated and the control series. Malformed ribs was the most frequent skeletal abnormality in the treated series. It was concluded that congenital malformations induced after treating male mice with a single dose of MNU were quantitatively and qualitatively similar to those induced after treating male mice with the fractionated doses of MNU.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"39 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88798346","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}
引用次数: 4
Variations in Palatal Rugae in Near Term Fetuses from Untreated Jcl:ICR Mice 未经治疗的Jcl:ICR小鼠早期胎儿腭纹的变化
Congenital anomalies Pub Date : 1994-03-01 DOI: 10.1111/j.1741-4520.1994.tb00273.x
M. Yasuda, R. Ohya, Toshio J. Sato
{"title":"Variations in Palatal Rugae in Near Term Fetuses from Untreated Jcl:ICR Mice","authors":"M. Yasuda, R. Ohya, Toshio J. Sato","doi":"10.1111/j.1741-4520.1994.tb00273.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00273.x","url":null,"abstract":"ABSTRACT The oral surface of the mouse palate has eight or nine pairs of transverse ridges, or rugae. Abnormalities in the pattern of palatal rugae have been reported in mutant mice and mice exposed to teratogens in utero. The purpose of this study was to describe control data of ruga variations for proper definition of “anomalous” ruga patterns. Jc1:ICR mice on gestation day 18 were killed, and the fetuses were fixed in Bouin's solution. Fetal palates were examined under a dissecting microscope. In total, 251 fetuses from 19 dams were observed. Among these fetuses 88% had one or more variations in the palatal rugae. Common variations were supernumerary anterior to the fourth ruga, division, and lateral bifurcation, and these were regarded as variations in the “normal” range. Variations rare in fetuses from untreated dams were shortness, fusion, cross, and supernumerary posterior to the fifth ruga, and these should be defined as “anomalous” ruga patterns in teratology experiments. Key words: mouse, palate, rugae, developmental toxicity test","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78629260","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}
引用次数: 6
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