official journal of Congeital Anomalies Research Association of Japan
Online ISSN : 2433-1503
Print ISSN : 0037-2285
Volume 48 , Issue 4
Congenital Anomalies
Showing 1-14 articles out of 14 articles from the selected issue
  • 2008 Volume 48 Issue 4 Pages A1-A33
    Published: 2008
    Released: August 12, 2021
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  • 2008 Volume 48 Issue 4 Pages J5-J6
    Published: 2008
    Released: August 12, 2021
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  • 2008 Volume 48 Issue 4 Pages 1-3
    Published: 2008
    Released: August 12, 2021
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  • 2008 Volume 48 Issue 4 Pages 145-150
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increasingly necessary. The developmental toxicity of indium in experimental animals was summarized. The intravenous or oral administration of indium to pregnant animals causes growth inhibition and the death of embryos in hamsters, rats, and mice. The intravenous administration of indium to pregnant animals causes embryonic or fetal malformation, mainly involving digit and tail deformities, in hamsters and rats. The oral administration of indium also induces fetal malformation in rats and rabbits, but requires higher doses. No teratogenicity has been observed in mice. Caudal hypoplasia, probably due to excessive cell loss by increased apoptosis in the tailbud, in the early postimplantation stage was considered to account for indium-induced tail malformation as a possible pathogenetic mechanism. Findings from in vitro experiments indicated that the embryotoxicity of indium could have direct effects on the conceptuses. Toxicokinetic studies showed that the embryonic exposure concentration was more critical than the exposure time regarding the embryotoxicity of indium. It is considered from these findings that the risk of the developmental toxicity of indium in humans is low, unless an accidentally high level of exposure or unknown toxic interaction occurs because of possible human exposure routes and levels (i.e. oral, very low-level exposure).
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  • 2008 Volume 48 Issue 4 Pages 151-157
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  Exposure to polychlorobiphenyl (PCB) mixtures at an early stage of development has been reported to affect endocrine glands; however, little is known about the precise toxicological properties of individual PCB. The present study was undertaken to determine whether prenatal exposure to 2,2′,4,4′,5,5′-hexachlorobiphenyl (PCB 153), a di-ortho-substituted non-coplanar congener, affects postnatal development in rat offspring. Pregnant Sprague-Dawley rats (Crj: CD (SD) IGS) were given PCB 153 (0, 16, or 64 mg/kg/day) orally from gestational day (GD) 10 through GD 16, and developmental parameters in the male and female offspring were examined. We found no dose-dependent changes in body weight, body length (nose–anus length), tail length, or the weights of kidneys, testes, ovaries and uterus in offspring at 1 or 3 weeks of age. Liver weights were increased in the PCB 153–treated groups, although we observed a significant difference only in males. Anogenital distance was unaffected in the PCB 153–treated groups. We observed a significant dose-dependent decrease in the plasma concentrations of thyroxine and tri-iodothyronine, whereas those of thyroid-stimulating hormone were not significantly changed. In addition, there were no dose-dependent changes in plasma concentrations of growth hormone and insulin-like growth factor-I in any dose group. These findings suggest that prenatal exposure to PCB 153 (GD 10–16, 16–64 mg/kg/day) may alter the thyroid status in rat offspring to some extent without affecting somatic growth or its related hormonal parameters.
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  • 2008 Volume 48 Issue 4 Pages 158-166
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  Our previous study showed an association between high fever-related maternal diseases during the second and/or third gestational months and a higher risk of multiple congenital abnormalities (MCA) in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The objective of our analysis is to attempt the delineation of the spectrum of the characteristic component defects of an MCA syndrome associated with high fever-related maternal diseases. Of 1349 cases with MCA without recognized genetic and teratogenic syndromes in the total dataset, 181 had a possible association with influenza, common cold with secondary complications, tonsillitis and recurrent orofacial herpes with high fever in the second and/or third gestational months. At the evaluation of component defects in these 181 MCA cases, an association was found between the components of the so-called two schisis-type defects, such as neural-tube defects and orofacial cleft, in addition to microphthalmos, neurogenic limb contractures, and indeterminate sex (i.e. maldevelopment of male external genital organs, such as hypoplasia of the penis and pseudohermaphroditism). In addition, previous findings that showed an association between high fever and facial anomalies (micrognathia and midfacial hypoplasia), microcephaly and defects of external ears, were confirmed in our dataset. Thus, we delineated the maternal high fever-related MCA syndrome, including the above component defects and this MCA syndrome was identified in 38 MCA (21.0%) among 181 MCA babies born to mothers with high fever-related diseases. In the total dataset of 1349 MCA, 2.8% of cases can be associated with high fever.
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  • 2008 Volume 48 Issue 4 Pages 167-170
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980–2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference data for this part of the country. Details of congenital malformations were compiled by reviewing the delivery register of the records departments of maternity sections of University of Calabar Teaching Hospital, St Luke's Hospital Anua and St Mary's Hospital Uruakpan. A total of 127 929 births were recorded, of which 452 cases of malformations were recorded. The anomalies recorded in the skeletal system were the highest with 132 cases (29.2%) detected. Other malformations were found to be associated with the central nervous system with 111 cases (24.6%) detected. Those associated with the urogenital system were found in 83 cases (18.4%). Congenital anomalies of the lip, palate and jaw were found in 56 cases (12.4%), while those of the eye and ear were found in 12 cases (2.7%). Those of the gastrointestinal tract were found in 29 cases (6.4%), while those of the respiratory and cardiovascular systems were found in 28 cases (6.2%) and in one case (0.2%), respectively. Fifteen cases (3.3%) were associated with chromosomal abnormalities, such as Down syndrome. However, these results do not provide a complete incidence of congenital malformations in the two states studies because most anomalies are not recorded in rural health and traditional birth centers.
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  • 2008 Volume 48 Issue 4 Pages 171-173
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  A rare case of an ectopic partially formed foot attached to the ankle and associated with fibular deficiency and scoliosis due to congenital hemivertebra is reported. The ectopic partially formed foot was amputated and the child was given a below-knee caliper to prevent further deformity of the foot.
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  • 2008 Volume 48 Issue 4 Pages 174-179
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  Urorectal septum malformation (URSM) sequence is an extremely uncommon anomaly. We report herein seven cases of URSM sequence that were identified after reviewing all autopsies conducted at our hospital over a period of 26 years (1981–2006). The URSM spectrum includes partial and full URSM sequences. Absent perineal and anal openings with ambiguous genitalia are included under ‘full URSM sequence’, and a single perineal or anal opening draining a common cloaca with an imperforate anus is called ‘partial URSM sequence’. Of our seven cases of URSM, three were full URSM sequence and four were partial URSM sequence. Associated renal anomalies were found in all of the cases. Three cases had unilateral renal agenesis and one each had bilateral renal agenesis and bilateral renal dysplasia, respectively. The remaining two cases had unilateral renal agenesis with contralateral kidney showing features of cystic dysplastic kidney and renal hypoplasia, respectively. Congenital anomalies involving other organs were also found in some of the cases. The longest survival period in our series was 10 days, in accordance with the short survival period usually associated with URSM. Five of the patients were females, one was male, and the sex of one neonate could not be ascertained. One of the neonates was from a twin pregnancy; the other twin was normal.
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  • 2008 Volume 48 Issue 4 Pages 180-182
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  We investigated the possible therapeutic effect of decreasing plasma levels of very-long-chain fatty acids (C26:0) with a synthetic oil containing trioleate and trielucate (Lorenzo's oil) as well as increasing docosahexaenoic acid (DHA) in red blood cells (RBC) with DHA ethyl ester in four patients with Zellweger syndrome. We investigated serial changes of plasma C26:0 levels and DHA levels in RBC membranes by gas-liquid chromatography/mass spectrometry (GC/MS). After death, the fatty acid composition of each patient's cerebrum and liver was studied. Dietary administration of Lorenzo's oil diminished plasma C26:0 levels. Earlier administration of Lorenzo's oil was more effective and the response did not depend on the duration of administration. DHA was incorporated into RBC membrane lipids when administrated orally, and its level increased for several months. The final DHA level was correlated with the duration of administration and was not related to the timing of initiation of treatment. DHA levels in the brains and livers of treated patients were higher than in untreated patients. Early initiation of Lorenzo's oil and the long-term administration of DHA may be useful for patients with Zellweger syndrome.
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  • 2008 Volume 48 Issue 4 Pages 183-187
    Published: 2008
    Released: August 12, 2021
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    ABSTRACT  The exo utero development system allows us to manipulate or operate on live embryos of mice or rats at mid- to late gestation stages, from late organogenetic to histogenetic periods, and keep them alive in situ until the analysis of their effects at a desired time point. We can examine the effects of injecting bioactive molecules or cells into targeted parts of a live embryo, destroying specific embryonic regions, or performing fetal surgery. This system is far simpler and more time- and cost-effective for in vivo functional analyses than establishing genetically modified mouse lines and provides a fine-tuned experiemental design for developmental scientists. To promote use of the mouse exo utero development system, we elaborate on the technical procedures, discuss critical points for troubleshooting the system, and illustrate some apparatuses essential for fetal microinjection.
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  • 2008 Volume 48 Issue 4 Pages 188
    Published: 2008
    Released: August 12, 2021
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  • 2008 Volume 48 Issue 4 Pages 189-190
    Published: 2008
    Released: August 12, 2021
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  • 2008 Volume 48 Issue 4 Pages 191
    Published: 2008
    Released: August 12, 2021
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