Pub Date : 1994-03-01DOI: 10.1111/j.1741-4520.1994.tb00271.x
Toshio J. Sato
ABSTRACT It has been revealed that exencephalic mouse embryos were resistant to cleft palate induction when they were exposed to several teratogens known as cleft palate inducing agents. In the present study, palatogenesis in exencephalic mouse embryos, which were not exposed to cleft palate inducing teratogens, was observed. A single dose of 6 mg CdCl2/kg body weight was intraperitoneally injected into pregnant Jcl:ICR mice at day 7.5 of gestation (plug day = day 0). Embryos were dissected from uterus at day 13.5 to 15.5, and the secondary palate was observed with a dissecting microscope or a scanning electron microscope (SEM). Of live embryos, 71.5% had exencephaly. Palatal shelves of exencephalic embryos were elevated earlier than non‐exencephalic embryos, and there seem to be two modes of palatal fusion in exencephalic embryos. (1) “Parallel‐shape.” The anterior part of shelves were elevated at day 13.5. Distance between the opposite medial edges of both shelves decreased at the posterior part, and this closing proceeded to the anterior part, where the shelves began to fuse. (2) “V‐shape.” The posterior part of palatal shelves became closer at day 14.0 or day 14.25. The medial edge of both shelves began to fuse at this part, and this fusion proceeded anteriorly. The anterior parts of the shelves were elevated, and the medial edge of the anterior shelves was fused independently. It is suggested that these alterations of palatogenesis in exencephalic embryos are related to inhibitive mechanism(s) against cleft palate induction. Key words: palate, neural tube defects, skull, mice, cadmium
{"title":"Analysis of Palatogenesis in the Mouse with Exencephaly Induced by Cadmium Chloride","authors":"Toshio J. Sato","doi":"10.1111/j.1741-4520.1994.tb00271.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00271.x","url":null,"abstract":"ABSTRACT It has been revealed that exencephalic mouse embryos were resistant to cleft palate induction when they were exposed to several teratogens known as cleft palate inducing agents. In the present study, palatogenesis in exencephalic mouse embryos, which were not exposed to cleft palate inducing teratogens, was observed. A single dose of 6 mg CdCl2/kg body weight was intraperitoneally injected into pregnant Jcl:ICR mice at day 7.5 of gestation (plug day = day 0). Embryos were dissected from uterus at day 13.5 to 15.5, and the secondary palate was observed with a dissecting microscope or a scanning electron microscope (SEM). Of live embryos, 71.5% had exencephaly. Palatal shelves of exencephalic embryos were elevated earlier than non‐exencephalic embryos, and there seem to be two modes of palatal fusion in exencephalic embryos. (1) “Parallel‐shape.” The anterior part of shelves were elevated at day 13.5. Distance between the opposite medial edges of both shelves decreased at the posterior part, and this closing proceeded to the anterior part, where the shelves began to fuse. (2) “V‐shape.” The posterior part of palatal shelves became closer at day 14.0 or day 14.25. The medial edge of both shelves began to fuse at this part, and this fusion proceeded anteriorly. The anterior parts of the shelves were elevated, and the medial edge of the anterior shelves was fused independently. It is suggested that these alterations of palatogenesis in exencephalic embryos are related to inhibitive mechanism(s) against cleft palate induction. Key words: palate, neural tube defects, skull, mice, cadmium","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"59 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78794378","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 : 1994-03-01DOI: 10.1111/j.1741-4520.1994.tb00268.x
Eun Kyung Kim, J. Chi
ABSTRACT We present an autopsy case of a 23‐week female abortus with the cardinal signs of lethal multiple pterygium syndrome (LMPS), including multiple pterygia with congenital joint contracture, fetal hydrops, cystic hygroma and intrauterine growth retardation. In addition, she had complete tubular intestinal duplication, not yet reported in this group of conditions.
{"title":"Lethal Multiple Pterygium Syndrome with Complete Intestinal Duplication","authors":"Eun Kyung Kim, J. Chi","doi":"10.1111/j.1741-4520.1994.tb00268.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00268.x","url":null,"abstract":"ABSTRACT We present an autopsy case of a 23‐week female abortus with the cardinal signs of lethal multiple pterygium syndrome (LMPS), including multiple pterygia with congenital joint contracture, fetal hydrops, cystic hygroma and intrauterine growth retardation. In addition, she had complete tubular intestinal duplication, not yet reported in this group of conditions.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1994-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75536622","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 : 1993-12-01DOI: 10.1111/j.1741-4520.1993.tb00539.x
T. Ogino, S. Ishii, H. Kato
ABSTRACT Thirty‐six cases with congenital flexion deformities of multiple digits were classified into six types such as congenital contractural arachnodactyly, distal arthrogryposis, Freeman‐Sheldon‐like syndrome, congenital aplasia of the extensor muscles of the digits, ulnar drift type and multiple camptodactyly type. Many common clinical features of the hands were observed among these deformities. In eleven cases, 18 hands were treated surgically and were followed up for more than a year. During surgery, complete correction or signigicant reduction of the deformity was achieved in most cases. From these operative findings, it was assumed that the main cause of congenital flexion deformity of multiple digits was contracture of the palmar skin and retaining ligaments of the skin. At follow up, complete correction was achieved in 10 hands, and incomplete or minimal correction in eight hands.
{"title":"Clinical Features and Operative Findings of Congenital Flexion Deformity of Multiple Digits","authors":"T. Ogino, S. Ishii, H. Kato","doi":"10.1111/j.1741-4520.1993.tb00539.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1993.tb00539.x","url":null,"abstract":"ABSTRACT Thirty‐six cases with congenital flexion deformities of multiple digits were classified into six types such as congenital contractural arachnodactyly, distal arthrogryposis, Freeman‐Sheldon‐like syndrome, congenital aplasia of the extensor muscles of the digits, ulnar drift type and multiple camptodactyly type. Many common clinical features of the hands were observed among these deformities. In eleven cases, 18 hands were treated surgically and were followed up for more than a year. During surgery, complete correction or signigicant reduction of the deformity was achieved in most cases. From these operative findings, it was assumed that the main cause of congenital flexion deformity of multiple digits was contracture of the palmar skin and retaining ligaments of the skin. At follow up, complete correction was achieved in 10 hands, and incomplete or minimal correction in eight hands.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"88728082","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 : 1993-12-01DOI: 10.1111/j.1741-4520.1993.tb00540.x
R. Hashimoto, M. Esaki, T. Umeda, Tetsuyuki Sugitou, T. Hattori
ABSTRACT We examined and treated two infants with Jeune syndrome. Their respiratory status had progressively deteriorated despite mechanical ventilation. Expansion of the thoracic cage by splitting the sternum and fixation with an artificial prosthesis was performed. A pneumotachograph was quite useful in determining the width of the prosthesis. The technique proved to be a life‐saving procedure in babies with Jeune syndrome.
{"title":"A Thoracic Expansion Technique as a Life‐Saving Procedure for Jeune Syndrome (Asphyxiating Thoracic Dysplasia)","authors":"R. Hashimoto, M. Esaki, T. Umeda, Tetsuyuki Sugitou, T. Hattori","doi":"10.1111/j.1741-4520.1993.tb00540.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1993.tb00540.x","url":null,"abstract":"ABSTRACT We examined and treated two infants with Jeune syndrome. Their respiratory status had progressively deteriorated despite mechanical ventilation. Expansion of the thoracic cage by splitting the sternum and fixation with an artificial prosthesis was performed. A pneumotachograph was quite useful in determining the width of the prosthesis. The technique proved to be a life‐saving procedure in babies with Jeune syndrome.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76151236","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 : 1993-12-01DOI: 10.1111/j.1741-4520.1993.tb00538.x
H. Aoyama, S. Fujii, S. Teramoto
ABSTRACT The present study aimed at investigating in fpl/fpl mutant rats survived to adulthood 1) whether bronchial branching abnormalities were the primary defects of pulmonary lobation anomalies, and if this was the case, 2) whether these anomalies could lead to respiratory dysfunction. Examination of corrosion casts made from the malformed lungs of adult fpl/fpl rats revealed a variety of branching abnormalities in the right bronchial tree, such as ventral ramification of the middle lobar bronchus, abnormal curvature of the intermediate lobar bronchus, and positional abnormalities of the middle lobar bronchus and first segmental bronchus of the intermediate lobar bronchus, while reduction in the number of segmental bronchi was the only minor abnormality found in the left lung. These results conformed to our previous observations in which the main manifestation of the fpl mutation was restricted to the right lung lobes, and indicated that the primary defect of this malformation was bronchial branching abnormalities. In these rats, stenosis of the trachea, right and left principal bronchi, and some lobar and segmental bronchi also became evident by calipering their circumference. Histopathological examination of the lungs revealed abnormally expanded airspaces accompanied by destruction of alveolar walls and macrophage infiltration in aged fpl/fpl rats. These observations suggest that fpl/fpl rats suffer emphysema‐like respiratory dysfunction with advancing age from pulmonary lobation anomalies conforming to tracheal and bronchial malformations.
{"title":"Bronchial Branching Abnormalities and Emphysema‐like Changes in Mutant Rats Having Congenital Lobation Anomalies in the Lung","authors":"H. Aoyama, S. Fujii, S. Teramoto","doi":"10.1111/j.1741-4520.1993.tb00538.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1993.tb00538.x","url":null,"abstract":"ABSTRACT The present study aimed at investigating in fpl/fpl mutant rats survived to adulthood 1) whether bronchial branching abnormalities were the primary defects of pulmonary lobation anomalies, and if this was the case, 2) whether these anomalies could lead to respiratory dysfunction. Examination of corrosion casts made from the malformed lungs of adult fpl/fpl rats revealed a variety of branching abnormalities in the right bronchial tree, such as ventral ramification of the middle lobar bronchus, abnormal curvature of the intermediate lobar bronchus, and positional abnormalities of the middle lobar bronchus and first segmental bronchus of the intermediate lobar bronchus, while reduction in the number of segmental bronchi was the only minor abnormality found in the left lung. These results conformed to our previous observations in which the main manifestation of the fpl mutation was restricted to the right lung lobes, and indicated that the primary defect of this malformation was bronchial branching abnormalities. In these rats, stenosis of the trachea, right and left principal bronchi, and some lobar and segmental bronchi also became evident by calipering their circumference. Histopathological examination of the lungs revealed abnormally expanded airspaces accompanied by destruction of alveolar walls and macrophage infiltration in aged fpl/fpl rats. These observations suggest that fpl/fpl rats suffer emphysema‐like respiratory dysfunction with advancing age from pulmonary lobation anomalies conforming to tracheal and bronchial malformations.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"58 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80234782","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 : 1993-09-30DOI: 10.1111/j.1741-4520.1994.tb00266.x
Y. Kamiguchi, H. Tateno, K. Mikamo
ABSTRACT Human gamete chromosome studies using 702 oocytes and 15,864 spermatozoa were reviewed. These studies were chosen because they were carried out with our improved chromosomal technique, the gradual fixation‐air drying method, which has been proven to be very reliable.
{"title":"Chromosomally Abnormal Gametes as a Cause of Developmental and Congenital Anomalies in Humans *","authors":"Y. Kamiguchi, H. Tateno, K. Mikamo","doi":"10.1111/j.1741-4520.1994.tb00266.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1994.tb00266.x","url":null,"abstract":"ABSTRACT Human gamete chromosome studies using 702 oocytes and 15,864 spermatozoa were reviewed. These studies were chosen because they were carried out with our improved chromosomal technique, the gradual fixation‐air drying method, which has been proven to be very reliable.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"174 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76892300","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 : 1993-03-01DOI: 10.1111/j.1741-4520.1993.tb00508.x
M. Omoto
ABSTRACT Fetal alcohol syndrome is known as an effect given by mothers. In connection with this, we so far observed rats from physical, biochemical, histological, and functional standpoints. Recently we observed synaptogenesis in brain together with behavior and learning ability of rats. Ethanol was given to mother rats during pregnancy and nursing periods, and learning ability of their offspring at 12 weeks of age was studied by the radial arm maze method. Also synaptogenesis in the hippocampus CA1 was observed at 2, 7, 14, 21, and 70 days of age by quantitative electron microscopy. The offspring were significantly deficient in learning ability tested with the maze compared with offspring of mother rats not exposed to ethanol. Densities of all synapses in the strata radiatum and lacunosum‐moleculare of CA1 in the hippocampus became significantly lower at every time of the observation. Both axo‐spinous and axo‐shaftic synapses significantly decreased. Thus we found that observations of learning ability agreed with observations of synaptogenesis in the hippocampus CA1 which has important association with memory. This fact suggests that both observations will be of great value in the research in behavioral teratology.
{"title":"New Approach in Behavioral Teratology—Experimental Study on FAS *","authors":"M. Omoto","doi":"10.1111/j.1741-4520.1993.tb00508.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1993.tb00508.x","url":null,"abstract":"ABSTRACT Fetal alcohol syndrome is known as an effect given by mothers. In connection with this, we so far observed rats from physical, biochemical, histological, and functional standpoints. Recently we observed synaptogenesis in brain together with behavior and learning ability of rats. Ethanol was given to mother rats during pregnancy and nursing periods, and learning ability of their offspring at 12 weeks of age was studied by the radial arm maze method. Also synaptogenesis in the hippocampus CA1 was observed at 2, 7, 14, 21, and 70 days of age by quantitative electron microscopy. The offspring were significantly deficient in learning ability tested with the maze compared with offspring of mother rats not exposed to ethanol. Densities of all synapses in the strata radiatum and lacunosum‐moleculare of CA1 in the hippocampus became significantly lower at every time of the observation. Both axo‐spinous and axo‐shaftic synapses significantly decreased. Thus we found that observations of learning ability agreed with observations of synaptogenesis in the hippocampus CA1 which has important association with memory. This fact suggests that both observations will be of great value in the research in behavioral teratology.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"31 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90351369","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 : 1993-03-01DOI: 10.1111/j.1741-4520.1993.tb00507.x
J. Bernstein
Among the principal types of hereditary and developmental renal cystic disease (Table I), polycystic kidney disease (PKD) stands out because of its frequency and medical importance. The two principal categories of PKD are autosomal dominant (AD-PKD) and autosomal recessive (AR-PKD). Cystic kidney disease, often indistinguishable from classic PKD, is also inherent in several well-defined syndromes, among them tuberous sclerosis and von Hippel-Lindau disease.
{"title":"Renal Cystic Disease : Classification and Pathogenesis *","authors":"J. Bernstein","doi":"10.1111/j.1741-4520.1993.tb00507.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.1993.tb00507.x","url":null,"abstract":"Among the principal types of hereditary and developmental renal cystic disease (Table I), polycystic kidney disease (PKD) stands out because of its frequency and medical importance. The two principal categories of PKD are autosomal dominant (AD-PKD) and autosomal recessive (AR-PKD). Cystic kidney disease, often indistinguishable from classic PKD, is also inherent in several well-defined syndromes, among them tuberous sclerosis and von Hippel-Lindau disease.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"1993-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79809298","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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