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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence among 13 siblings of a malformation-mental retardation syndrome and diverse malignancies was investigated for etiologic relationship by clinical, genetic, immunologic, and virologic techniques. Three sisters and their father had Saethre-Chotzen syndrome, an autosomal dominant trait with craniosynostosis and asymmetric facies. One affected sister also had nasopharyngeal carcinoma; tow nondysmorphic brothers had Hodgkin's disease, and another had seminoma with teratocarcinoma of the testis. Decreased in vitro lymphocytic proliferation to various mitogens was observed in both available siblings with tumor, one sibling with Saethre-Chotzen syndrome, and two clinically normal siblings and their father. Both parents and all siblings had normal karyotypes and no increase of antibodies to Epstein-Barr virus. The malformation syndrome and the various neoplasias segregated independently of each other and of 47 genetic markers, including histocompatibility antigens (HLA). This study illustrates an approach to defining etiology when rare disorders cluster in a family and suggests that the occurrence of malignancies in this family may be related to subclinical immune dysfunction. Whether the Saethre-Chotzen syndrome predisposed to malignancy, perhaps through impaired immunity, awaits additional observations.
Cancer 1984 Dec 15
PMID:The concurrence of Saethre-Chotzen syndrome and malignancy in a family with in vitro immune dysfunction. 609 87

The cytomegaloviruses (CMV), members of the herpesvirus group, are widely disseminated; however, among healthy, nonpregnant adults these viruses are not usually responsible for serious illness or disability. However, CMV infections associated with pregnancy are an important cause of prenatal infection and are significantly associated with sensorineural injury and mental retardation in the offspring of infected mothers. CMV infections also constitute a significant threat to patients with disseminated malignancies, to allograft recipients, and to others who are debilitated and immunosuppressed. The development of a program of immunization against CMV has been proposed as a means to control prenatal infection and injury as well as to reduce the relevant morbidity and mortality of these infections among allograft recipients and others at high risk. In this review the potential benefits, problems, and risks associated with CMV immunoprophylaxis are discussed and results of preliminary trials of prototype CMV vaccines are presented and evaluated.
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PMID:Cytomegalovirus immunization: status, prospects, and problems. 625 27

We have previously mapped the gene coding for catalase to 11p13 by gene dosage analysis. Deletion of this chromosomal region causes aniridia, mental retardation, and predisposition to Wilms' tumor (WT). In the present study, 22 patients with various etiologic forms of WT and/or aniridia were investigated. The catalase (CAT) level and karyotype were examined in order to determine the linkage and the gene ordering on chromosome number 11 of the different loci involved. The CAT concentration was normal in the 19 cases without detectable chromosomal abnormalities.
Cancer Genet Cytogenet 1983 Sep
PMID:Catalase determination in various etiologic forms of Wilms' tumor and gonadoblastoma. 630 58

One of the most provocative findings in tumour biology is the relationship between chromosomal changes and embryonal cancers in children. For example, children with the rare paediatric syndrome AGR triad (aniridia, genito-urinary abnormalities and mental retardation) often develop Wilms' tumours at a very early age and carry a germ-line deletion on the short arm of chromosome 11 (11p13). It has been suggested that the germ-line deletion 11p is the first of two or more steps to cancer in AGR children. If this were true, one might expect a similar deletion to arise somatically in the far more common isolated Wilms' tumours of children without AGR, as suggested by Knudson from epidemiological data. However, a chromosomal deletion on 11p was observed in only two of five such cases, while it was absent or seen inconsistently in others. We have now used a molecular genetic approach to determine whether Wilms' tumour cells possess somatic alterations at 11p loci. We have found somatic deletions of specific genes in four of six Wilms' tumours. Surprisingly, in all four cases, the deletions were associated with duplications leading to homozygosity of the non-deleted alleles in the tumour cells. As analogous observations were recently reported in retinoblastoma, the genetic events reported here may underlie the development of many such embryonal tumours in children.
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PMID:Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. 632 39

Aneuploid chromosomal disorders may offer insight into the pathogenesis of certain common diseases. The birth defects and mental retardation that characterize Down's syndrome are well recognized. In addition, the altered chromosomal content that occurs in the syndrome apparently affects the prevalence of a variety of disorders, such as malignancy, endocrine dysfunction, infection, atherosclerosis, and premature aging. Because the single distinguishing factor in Down's syndrome is the presence of an excess of a part of chromosome 21, the genetic information contained in this chromosomal segment seems to be responsible for the disease manifestations. Techniques of somatic cell genetics and molecular biology allow mapping of human genes and study of their expression. With such methods it should be possible to understand Down's syndrome and other aneuploid disorders and to apply these considerations to other areas of medicine.
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PMID:Down's syndrome as a model disease. 646 5

One hundred two patients were evaluated for late effects of brain tumor in childhood by a medical record review and follow-up questionnaire. The patients had survived brain tumor for 5 to 47 years (median, 18 years). Among 30 patients who had received brain irradiation, 3 were successfully treated for second neoplasms that developed within the radiotherapy field 11, 16, and 29, years later, respectively. Moderate or severe functional deficits were present in 24 patients (24%), more commonly among those treated before 2 years of age and among those with cerebral astrocytoma. The other 78 patients (76%) had mild or no gross deficits, and all but 1 of them were attending school or were employed. Twenty-one patients in the series reported a total of 41 offspring, none of whom had cancer or mental retardation. Although markedly diverse performance levels were found among the 102 long-term survivors of childhood brain tumors, the majority had an acceptable quality of life.
Cancer 1984 Jul 01
PMID:Follow-up of children with brain tumors. 672 38

To our knowledge, 20 cases of retinoblastoma associated with a chromosome #13 aberration have been reported. The present study utilized high-resolution prophase banding analysis of 12 additional retinoblastoma patients to determine the occurrence of chromosome aberrations and identify consistently associated clinical abnormalities. Six male and six female patients were studied representing seven cases of bilateral and five cases of unilateral retinoblastoma. One case of unilateral and two cases of bilateral retinoblastoma and detectable cytogenetic abnormalities, all involving an interstitial deletion of 13q14 on the long arm of one chromosome #13. In all five unilateral cases the tumor manifested in the left orbit, and in all seven bilateral cases the left eye was at a more malignantly advanced stage than the right eye. All three cases with a chromosome abnormality had varying degrees of developmental and/or mental retardation, along with at least one other congenital abnormality. In addition to the 12 cases of retinoblastoma, a patient with severe ophthalmologic abnormalities and mild congenital anomalies was studied by the prophase banding technique and found to be partially trisomic for the 13q14 region with gene loci for optic development and indicate that cytogenetic abnormalities may occur even more frequently in retinoblastoma than indicated by the small number of cases reported in the literature.
Cancer Genet Cytogenet 1982 May
PMID:Retinoblastoma and its association with a deletion in chromosome #13: a survey using high-resolution chromosome techniques. 710 85

Thirty-one children under the age of 15 years with verified medulloblastoma were treated at Addenbrookes Hospital from 1940 to 1976. In addition to surgical treatment, all received high dose irradiation to the whole neuraxis. Nine were still alive in 1979, of whom eight were examined. All these patients showed some residual problems, but five were leading active lives and had only minor physical disability. There was evidence of disturbance in growth, with shortening of the spine in relation to the limbs, in all the children. The height centile was lower than expected from parental height in four and one was severely dwarfed. Growth hormone secretion in response to exercise was, however, normal in five of six patients tested. Three children also showed failure of growth of the jaw sufficiently severe to be a cosmetic problem. Frank mental retardation was present in three children. A raised resting TSH level was found in two children, one of whom had a multinodular goiter. Of the three children with severe problems, two had been treated when under two years of age. Long-term follow-up of children who survive medulloblastoma is clearly necessary and consideration should perhaps be given to revision of current treatment regimes in very young children.
Cancer 1981 Jul 01
PMID:Medulloblastoma in childhood: long-term results of treatment. 723 89

Tuberous sclerosis classically presents a triad of mental deficiency, seizures and adenoma sebaceum. Among the ocular manifestations are astrocytic hamartomas in the retina. This paper describes the case of a 24-year-old man with tuberous sclerosis who had recurrent vitreous hemorrhage from a large epipapillary astrocytic hamartoma in the left eye. Pars plana vitrectomy cleared the vitreous and bimanual bipolar coagulation of tumor bleeding points was done. Fragments of the friable tumor were obtained with the vitrectomy instrument and were prepared for tissue culture, histology, and electron microscopy. Although pars plana vitrectomy offers certain advantages over other methods of biopsy, it does present a danger of extraocular seeding of malignant cells; therefore, it is not recommended in cases with probable intraocular malignancy.
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PMID:Vitreous hemorrhage complicating retinal astrocytic hamartoma. 728 Sep 93

The management of cervicofacial teratomas in neonates is often complicated and may result in significant morbidity and death. A Childrens Cancer Group (CCG) retrospective study was conducted to evaluate a multiinstitutional experience with the treatment of these extremely rare neoplasms. Twenty neonates with cervicofacial teratomas, presenting from 1971 to 1994, were identified from nine CCG institutions. Fourteen neonates had cervical teratomas, and six had orofacial teratomas. There were 12 males and eight females. A diagnostic prenatal ultrasound examination was performed in six cases. Life-threatening airway obstruction occurred in seven infants (35%) in the early postnatal period. Two neonates died in the delivery room without ever having their airway secured. Two other infants with a prenatal diagnosis survived only because tracheostomies were performed by pediatric surgeons who were in the delivery room. Three other patients were orally intubated, one after sustaining hypoxic cardiac arrest. Eighteen infants had their primary tumor excised. Three patients required tracheostomy. After resection, two patients had evidence of unilateral recurrent laryngeal nerve injury, and two required prolonged thyroid hormone replacement. Histological examination showed eight mature and seven immature teratomas. Four infants (20%) clearly had malignant lesions. Pulmonary metastases occurred in two patients and contributed to one late death at 6 months of age. The overall survival rate was 85%, and the mean follow-up period was 5 years (range, 2 months to 16 years). Twelve of 17 surviving patients (70%) have had an excellent functional and cosmetic outcome. Four children have varying degrees of developmental delay and mental retardation. Hypoxia at birth was believed to have contributed to these problems in two cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Diagnosis, management, and outcome of cervicofacial teratomas in neonates: a Childrens Cancer Group study. 753 9


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