日本先天異常学会会報
Online ISSN : 2433-1503
Print ISSN : 0037-2285
45 巻 , 1 号
Congenital Anomalies
選択された号の論文の9件中1~9を表示しています
  • 2005 年 45 巻 1 号 p. J1
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
  • 2005 年 45 巻 1 号 p. 1-4
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  Malformations surveillance programs of newborn infants have been developed as a method for identifying serious and relatively common birth defects. The virilization of newborn infants with the classic 21-hydroxylase form of congenital adrenal hyperplasia must be identified early if the associated metabolic crisis in the perinatal period is to be prevented. We compared the detection of virilization associated with 21-hydroxylase congenital adrenal hyperplasia in infants by three methods: an ‘active’ malformations surveillance of medical records at a large urban hospital; routine medical care by examining physicians; and newborn biochemical screening of blood samples. The experience at a large maternity center in Boston, since 1972, showed that pediatricians often recognized affected females (6/6), but not males (0/2); the state newborn screening program, begun in 1990, identified correctly all affected males and females. The Active Malformations Surveillance Program was the least effective screening method, identifying four of six affected females and neither of the affected males. The low rate of detecting affected females by the Surveillance Program was attributed to a failure to sensitize the research assistants to the importance of physicians’ notations regarding the signs and symptoms of virilization. The failure of examining physicians, and thereby, the malformations surveillance program, to detect virilized newborn males was due to the lack of consistent associated physical features. These comparisons between these three methods of detection can be used to design and improve malformations surveillance programs.
  • 2005 年 45 巻 1 号 p. 5-8
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  The objective of the study presented here was to check the effect of oral ketoconazole treatment on fetal development. Ketoconazole has been given a teratogenic classification of C by the US Food and Drug Administration, but human controlled epidemiological studies of the treatment's effects have not been reported. The occurrence of ketoconazole use in the second to third months of gestation was compared between cases with congenital abnormalities and their matched controls in the large population-based data set of the Hungarian Case–Control Surveillance of Congenital Abnormalities, 1980–1996. Birth weight and gestational age were evaluated in control newborn infants born to mothers with or without ketoconazole treatment. The case group comprised 22 843 cases with congenital abnormalities, while the control group contained 38 151 newborn infants without any defects. Six infants (0.03%) and 12 controls (0.03%) had mothers who had received oral ketoconazole treatment (prevalence odds ratio: with 95% confidence interval: 0.8, 0.3–2.2). No group of infants with congenital abnormalities had mothers with a higher incidence of use of the drug. The mean gestational age was somewhat longer while birth weight was somewhat larger in controls with ketoconazole treated mothers. Our study failed to demonstrate a higher rate of congenital abnormalities in infants with mothers who had received oral ketoconazole treatment during pregnancy.
  • 2005 年 45 巻 1 号 p. 9-13
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  The study presented here investigated the pathogenetic relationship among different types of neuronal migration disorders occurring simultaneously in the brain using an experimental model induced by ibotenate in hamsters. In the cerebral cortex, abnormal neuronal arrangement was induced 1 day after ibotenate injection. This brain lesion resulted in microgyria in the rostral portion, focal subcortical heterotopia in the mid-portion, and focal subependymal heterotopia in the caudal portion in the same specimen. Vimentin-immunoreactive radial glial fibers were lacking in the area of disorganized neuronal arrangement, but were detected around the microgyria and the intermediate zone surrounding focal subcortical heterotopia. The focal subependymal heterotopia did not include radial glial elements. Glial fibrillary acidic protein (GFAP)-positive glial reaction was weak in these cortical lesions. We suggest that the occurrence of each type of migration disorder depends on the depth of the cortical lesion, that is, the production of microgyria, focal subcortical heterotopia and focal subependymal heterotopia are closely related to the lesions including the cortical plate, subplate and ventricular zone, respectively.
  • 2005 年 45 巻 1 号 p. 14-20
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  The majority of prior developmental neurotoxicity studies focused on postnatal subjects rather than on the fetus. In the present paper, we demonstrate the use of histological examination of fetal rat (embryonic day 16.5) brain serial sections, employing Nissl staining and microtubule-associated protein 2 (MAP2) immunohistochemistry, in evaluating a chemical-induced neurodevelopmental disorder. Since prenatal treatment with 5-bromo-2′-deoxyuridine (BrdU) is known to induce behavioral abnormalities such as locomotor hyperactivity in offspring, pregnant rats were administered 50 mg/kg on gestation days 9.5 through 15.5. The fetal brains at embryonic day 16.5 were collected and processed for neuropathological study. Cell death, including DNA strand breaks, was observed in specific areas of the fetal brain such as the neuroepithelium, intermediate zone and/or differentiating zones (e.g. neocortex and striatum) in exposed fetuses. In addition, the neocortex had an abnormal appearance cortical plate, which was also detected by MAP2 immunohistochemistry. The abnormal cortical plate was observed consistently, while the grade of cell death was generally very mild and variable. No significant alteration was detected in the brainstem. The present study reveals that histological observation of the fetal brain includes sensitive endpoints in developmental neurotoxicity, and that BrdU, at a dose generally administered to label proliferating cells, affects the development of the fetal neocortex.
  • 2005 年 45 巻 1 号 p. 21-25
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  Using polymorphic analysis of microsatellites, we investigated the parental origin and mechanism of double trisomies seen in cases of spontaneous abortion. We obtained chorionic villi from spontaneous abortions, and peripheral blood from females who experienced abortion and their spouses. Chromosomal analysis of 170 cases revealed four cases with double  trisomy.  The  karyotypes  of  these cases are 48,XX,+16,+22, 48,XXY,+18, 48,XX,+15,+21 and 48,XX,+2,+5. In the present study, the incidence of double trisomy was 2.4% of spontaneous abortions. Polymorphic analysis of microsatellites indicated that extra chromosomes were all of maternal origin in the four cases of double trisomy. The predominance of maternal origin in cases of double trisomy is similar to cases of single trisomy. The result also indicated that both extra chromosomes in two cases occurred by non-disjunction at the first meiotic division, and extra chromosomes in the other two cases occurred by non-disjunction at the first mitotic division. The mean maternal age in cases of double trisomy was significantly higher than that in cases of single trisomy. These findings suggest the possibility that abnormal separation of two or more chromosomes may occur simultaneously in oogonia, and that this phenomenon may increase in relation to the increase in age of women.
  • 2005 年 45 巻 1 号 p. 26-31
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  We previously reported the separation and recovery of nucleated red blood cells (NRBCs) in maternal blood using the lectin method. In the present study, we verified the lectin method and investigated the appearance of NRBCs during pregnancy. For the concentration of lectin soy bean agglutinin, 7 mL of maternal peripheral blood was collected from 20 subjects, and the relative fluorescence intensity was measured using flowcytometry; 50 mg/mL, used in previous studies, was the optimal concentration. The number of cells recovered at each step of the lectin method was also investigated by FACS using fluorescence-labeled CD11a and CD33, and the results showed the usefulness of the method. Next, 7 mL of maternal peripheral blood was collected from 292 women with a normal single pregnancy (389 specimens), and NRBCs were separated and recovered using the lectin method. NRBCs slightly increased over the course of pregnancy (y = 4.29x +  5.03, r2 = 0.11). When blood was collected multiple times in the same subjects, NRBCs increased in 63 of 77 subjects (83.1%, percent change: 2.4 ± 19.0). No NRBCs were recovered in 17 subjects (4.7%). Regarding the relationship between fetomaternal disorders and the frequency of NRBCs, 89.4 ± 92.6 cells appeared per 10 mL of maternal blood in the normal group, but NRBCs increased in patients with 18 trisomy, placenta previa, pre-eclampsia, intrauterine fetal death, and 21 trisomy. NRBC examination may play an assisting role not only in fetal diagnosis but also in fetomaternal diagnosis.
  • 2005 年 45 巻 1 号 p. 32-34
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  Bouin's or a 10% formalin solution has been used to fixate internal fetal observations for developmental toxicity studies in rats. However, these fixatives are known to cause contraction of the ventricle of the heart and arteries, which makes dissection and observation more difficult. Fetuses on day 20 of gestation from pregnant Crj:CD(SD)IGS rats were injected with 10 w/v% magnesium chloride/10 vol% neutral buffered formalin solution into the thoracic cavity, and then fixed in 10 vol% neutral buffered formalin. After fixation, the heart was dissected using a modified Staples technique. In treated fetuses, the membranous region of the ventricular septum and the valves were clearly observed in an expanded state. We conclude that this method increases the ability to detect heart anomalies and decreases the chance of a false-positive finding.
  • 2005 年 45 巻 1 号 p. 35-38
    発行日: 2005年
    公開日: 2021/08/05
    ジャーナル オープンアクセス
    ABSTRACT  Deletion of TWIST on 7p21 leads to Saethre–Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand–foot–genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers. Using fluorescence in situ hybridization, we demonstrated the deletion to encompass the TWIST locus and the HOXA cluster. We suggest that many, if not all, of the features of this patient could be accounted for by combined haploinsufficiency of the TWIST and HOXA cluster. Hence, the patient's phenotype may define a new contiguous gene syndrome on 7p.
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