摘要:

AbstractTwelve autopsy cases (9 males, 3 females) of the prune belly syndrome are presented. Principal anomalies of this syndrome are a prune‐like abdominal feature and a giant bladder. Urethral atresia was observed in most but two cases. Imperforate anus and rectovesical fistula were observed in 8 and 7 cases respectively. Associated anomalies were those which may or may not be embryologically related to the principal anomalies.As regards the pathogenesis, the authors propose that a primary defect may occur during any developmental stage of the somitic mesoderm, genital tubercle and urethra. In conclusion, the prune belly syndrome may be of spectrum anomalies depending on the stage specificity mainly in the abdominal wall and genito‐urinary org

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00629.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractBy way of a questionnaire concerning 155,620 elementary and junior high school pupils (aged 6‐14), we investigated for the first time in Japan the prevalence rate of inguinal hernia in children and its spontaneous cure.Of the 76,425 male and 79,195 female children surveyed, inguinal hernia was found in 6,523 (8.53%) boys and 2,975 (3.75%) girls. In total, the prevalence rate was 6.10% with a male/female ratio of 7:3.Of the 6,523 boys who had or had had inguinal hernia, 3,425 had undergone surgery. Of the remaining 3,098 unoperated male patients, 1,160 was cured with a hernia band and 1,140 showed spontaneous cure. The rate of cure without surgery in all the male patients was 35.26%.In girls, 1,198 of the 2,975 subjects having inguinal hernia at the time of the survey or in the past had undergone surgery. Of the remaining 1,777 unoperated patients, 369 recovered with a hernia band and 677 showed spontaneous cure. Thus, 35.16% of all the female patients were cured of the condition without surger

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00630.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractAs an attempt to establish the methodology of behavioral teratology, this study was carried out to investigate whether the effects of HU would be different between Wistar and Sprague‐Dawley (SD) rats. Hydroxyurea (HU) was intraperitoneally injected to pregnant SD rats at does of 50 or 100 mg/kg/day during the organogenetic period (days 9 to 12 of gestation). Male offspring from these dams were observed for their morphological and behavioral developments. Microphthalmia was found in only 2 pups at the 21st day of the 100 mg/kgyday group. No adverse effect of postnatal growth was observed in all treated groups. The number of ambulation in the open field test at 3 and 4 weeks of age in the 50 mg/kg/day group and at 5 weeks of age in the 100 mg/kg/day group was decreased. No inhibition of reflex development, traction response and rotorod performance was observed in all treated groups. These findings suggested that the morphological and behavioral effects of HU in SD male rats are less severe than those in Wistar male rats as was in our previous study. The strain differences in the exploratory behavior seemed to be more severe, because the specific behavioral type in both strains might be potentiated by HU treatmen

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00631.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractAdministration of the antispermatogenic agent bis‐diamine (N, N'‐bis‐(dichloroacetyl)‐1, 8‐octamethylenediamine) to pregnant rats produced a malformation complex resembling DiGeorge syndrome in man. The malformations consisted of hypoplasia or aplasia of the thymus, persistent truncus arteriosus, tetralogy of Fallot, aberrant subclavian artery and other cardiovascular anomalies, as well as hypoplasia of the parathyroid gland, thyroid gland, and the spleen. The malformation complex appeared with a high incidence when the drug was administered on day 9.5 or day 10 of gestation.Since the connective tissues of the thymus, aorticopulmonary septum, smooth muscles of the media of the aortic arch artery, and connective tissues of the parathyroid and the thyroid glands, are of neural crest origin, and since the time of their migration is around day 10 of gestation, we postulate that the action of bis‐diamine might be involution of the migration of the neural crest cells and of its pathways.We further suggest from the findings of persistent atrioventricular canal and hypoplasia of the spleen, that the drug must have also affected the growth of mesenchymal cells, which originate from the endocardial epith

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00632.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractCraniofacial anomalies induced by bis(dichloroacetyl)diamine (bisdiamine) were studied in two strains of mice, Jcl:ICR and A/J. Bisdiamine was given by oral intubation at a dose of 3,200 mg/kg/day at days 7.5 and 8.5, 8.5 and 9.5, 9.5 and 10.5 or 10.5 and 11.5 of pregnancy (VP = day 0). A/J was more susceptible to embryolethal effects of bisdiamine and had a longer sensitive period to teratogenic effects of bisdiamine. The most susceptible period for craniofacial anomalies induced by bisdiamine in A/J was one day later than that in Jcl:ICR. In both strains, median facial anomalies, cleft palate, protuberance(s) on the forehead and open eyelids were commonly induced craniofacial anomalies. Median facial anomalies were more frequent and also more severe in Jcl:ICR, while lateral cleft lip was observed only in A/J.Strain differences for embryolethality and types and frequencies of craniofacial anomalies are discussed on the basis of genetic homozygosity, craniofacial development and embryonic face shape immediately before the fusion of the nasal prominences. Neural crest cells are thought to be the target of bisdiamine.

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00633.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractThe authors have previously reported on the possibility of using the detection of crystalluria of 2, 8‐dihydroxyadenine as a screening test for the early discovery of congenital adenine phosphoribosytransferase deficiency.Since the amount of adenine in urine was determined by high performance liquid chromatography and hyperadeninuria in a girl patient with this disease was definitely recognized, it is concluded that the detection of crystalluria of 2,8‐dihydroxyadenine as a primary screening test and the demonstration of hyperadeninuria as a secondary screening are helpful in an early detection of this disease.The authors would like to propose this disease be designated a “Adenine‐body Urine Disease,” since adenine bodies such as adenine and 2,8‐dihydroxyadenine are excreted into the urine in la

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00634.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractA newly established rat strain named TW showed congenital abnormalities in the male genital organs at about 47% incidence. These abnormalities included the unilateral or bilateral testicular hypoplasia accompanied with ipsilateral aplasia of the epididymis, ductus deferens and gland of ductus deferens. Most commonly these accessories were completely absent but in some cases the lack was partial. The other accessories such as the seminal vesicle, coagulating gland, and prostate were normal. The female genital organs were normal. The genetical analysis revealed that these defects are transmitted by multiple genes with an incomplete penetrace and a threshold effect. The TW rat provides a useful model for studying the developmental process of the male genital system.

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00635.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY

摘要:

AbstractThe main values of our knowledge of the genetics of birth defects are proper diagnosis and counseling.A classification of hand malformations on anatomic and genetic grounds was proposed by Temtamy (1966), Temtamy and McKusick (1969, 1978): The ten main categories are (1) Absence, (2) Brachydactyly, (3) Syndactyly, (4) Polydactyly, (5) Symphalangism, (6) Arachnodactyly, (7) Macrodactyly, (8) Carpal/Tarsal synostosis, (9) Congenital ring constrictions, and (10) Contractures.The hand malformation is either isolated or associated with other organ malformation as a part of syndromes. In the monograph by Temtamy and McKusick (1978), numerous new syndromes were identified, some of which were based on single or few observations.The paper summerizes the pertinent findings in a computerized literature survey of absence or deficiency malformation as part of synderomes reported between 1977 and 1983.Analysis of the literature confirmed the identity of previously reported syndromes and added “new” entities.The originally proposed classification of hand malformations proved to be useful and allowed for easy sorting out of the recent literature and for indentification of new syndro

ISSN:0914-3505    

DOI:10.1111/j.1741-4520.1985.tb00636.x

出版商:Blackwell Publishing Ltd    

年代:1985

数据来源: WILEY