ABSTRACT
Protein S, a vitamin K-dependent coagulation factor, is involved in the regulation of the anticoagulant activity of activated protein C. Using an immunoradiometric assay for total protein S in plasma we identified 14 patients (7 male and 7 female) in three unrelated Dutch families as fulfilling the criteria for an isolated protein S deficiency. In 9 patients who were not receiving oral anticoagulant treatment the mean total protein S antigen concentration was 0.50 +/- 0.08 U/ml (+/- S.D.) and the calculated free protein S concentration was 0.15 +/- 0.01 U/ml (+/- S.D.). In the five patients who were on oral anticoagulant treatment the mean total protein S antigen was 0.23 +/- 0.05 U/ml (+/- S.D.). Seven of the 14 patients had a history of venous thromboembolism occurring at a mean age of 25 years and often without an apparent cause. Protein S deficiency is inherited as an autosomal dominant trait.
Subject(s)
Blood Coagulation Disorders/genetics , Glycoproteins/deficiency , Thromboembolism/etiology , Adolescent , Adult , Blood Coagulation Disorders/blood , Blood Coagulation Factors/metabolism , Factor X/metabolism , Female , Humans , Male , Middle Aged , Pedigree , Protein S , Thrombophlebitis/etiologyABSTRACT
Chromosomal abnormalities in a 2.4-year-old boy with renal adenocarcinoma (Grawitz tumor) are described. Renal adenocarcinoma is extremely rare in childhood, compared with nephroblastoma (Wilms' tumor). In all tumor cells the same 46,XY,t(X;1) (p11.2;q21.2) karyotype was found. This karyotype is compared with the cytogenetic descriptions of renal adenocarcinoma in adults.
Subject(s)
Carcinoma, Renal Cell/genetics , Chromosomes, Human, 1-3 , Kidney Neoplasms/genetics , Translocation, Genetic , X Chromosome , Carcinoma, Renal Cell/pathology , Child, Preschool , Chromosome Banding , Humans , Karyotyping , Kidney Neoplasms/pathology , Male , Wilms Tumor/geneticsABSTRACT
Mutations of the retinoblastoma (RB1) gene are not confined to retinoblastoma, but are also involved in the development of osteosarcoma. Structural aberrations within the RB1 gene have been studied in fresh samples of eleven cases of osteosarcoma. In five cases a rearrangement was detected, one of which was best explained as a partial duplication. The chromosomal mechanisms by which the nonmutated RB1 allele was lost appeared to be similar in frequency to those that have been reported for retinoblastoma. Loss of heterozygosity was observed for chromosomes 3, 11, 13, 17, and 22. However, when no loss of heterozygosity of chromosome 13 was detected, the other chromosomes retained their heterozygosity as well. A complete association of loss of heterozygosity of chromosomes 13 and 17 was observed. This can be taken as an indication of the involvement of another tumor suppressor gene at chromosome 17 in the initiation of osteosarcoma.
Subject(s)
Chromosomes, Human, Pair 13 , Chromosomes, Human, Pair 17 , Genes, Retinoblastoma/genetics , Heterozygote , Osteosarcoma/genetics , Adolescent , Adult , Child , DNA Probes , Female , Humans , Male , Middle Aged , Mutation , Nucleic Acid HybridizationABSTRACT
We present the result of the cytogenetic study of a case of osteosarcoma that revealed a very complex karyotype with a modal chromosome number of 93 and several structural chromosomal abnormalities.
Subject(s)
Chromosome Aberrations , Femoral Neoplasms/genetics , Osteosarcoma/genetics , Child , Chromosome Banding , Female , Humans , KaryotypingABSTRACT
The dental health of 45 children who had been placed on long term evaluation after chemotherapy treatment for malignancies was examined in this study. All children had received cytotoxic drugs during the period of tooth formation. It was found that they had more filled or diseased permanent teeth than control children. Their current caries activity as indicated by initial white spot lesions was also higher. Forty-three of the children showed evidence of disturbed amelogenesis. This had resulted in aesthetically displeasing grooves, pits and discoloration. Twenty-three of the children were counseled on the possibility of cosmetic dentistry. Delayed eruption and shortened, malformed roots were also found on several patients. It was concluded that these patients constitute a high risk dental care group.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/adverse effects , Dental Caries/epidemiology , Neoplasms/drug therapy , Tooth/drug effects , Adolescent , Child , DMF Index , Dental Enamel/pathology , Follow-Up Studies , HumansABSTRACT
Due to intensive cytostatic therapy of childhood leukemia there is a continuing improvement of treatment results. However the resulting immunosuppression increases the risk of (opportunistic) infections. Several measures for prevention and treatment are discussed e.g. oral care varicella vaccination, antimicrobial therapy.
Subject(s)
Antineoplastic Agents/therapeutic use , Immunosuppression Therapy , Opportunistic Infections/prevention & control , Anti-Bacterial Agents/therapeutic use , Child , Humans , Immunization, Passive , Oral Hygiene , Patient Isolation , VaccinationABSTRACT
During the past decades there has been considerable interest in the use of dietary fibre in both animal and human nutrition. In human subjects dietary fibre has been studied intensively for possible effects on body-weight management and health. In animal nutrition the interest in dietary fibre has increased because it can be used as a cheap source of energy and because of its potential to improve animal welfare and reduce abnormal (mainly stereotypic) behaviour. Animal welfare is impaired if the diet does not provide sufficient satiety, combined with an environment that does not meet specific behavioural requirements related to natural feeding habits (e.g. rooting in pigs). A considerable proportion of the behavioural effects of dietary fibre are thought to be related to reduced feeding motivation. It has been hypothesized that: (1) bulky fibres increase satiety and thereby decrease physical activity and stereotypic behaviours immediately following a meal in pigs; (2) fermentable fibres prolong postprandial satiety and thereby reduce physical activity and appetitive behaviours for many hours after a meal. The validity of these hypotheses is examined by considering published data. In sows dietary fibres (irrespective of source) reduce stereotypic self-directed behaviours and substrate-directed behaviours, and to a lesser extent overall physical activity, indicating enhanced satiety shortly after a meal. Furthermore, fermentable dietary fibre reduces substrate-directed behaviour in sows and physical activity in sows and growing pigs for many hours after a meal. Evidence of long-term effects of poorly-fermentable fibre sources is inconclusive. The findings suggest that highly-fermentable dietary fibres have a higher potential to prolong postprandial satiety.
Subject(s)
Behavior, Animal/physiology , Dietary Fiber/administration & dosage , Satiety Response/physiology , Swine/metabolism , Animal Nutritional Physiological Phenomena , Animals , Dietary Fiber/metabolism , FemaleABSTRACT
Four patients aged 5 to 9 years with large tumours located in the posterior fossa (PNET, ependymoma or astrocytoma) are presented. Patients received standard neuropsychological assessments, including speech evaluation, prior to surgery. Following tumour resection, these 4 children developed transient mutism or different types of speech and cognitive disorders, associated with behavioural disturbances. We describe course and results of repeated postoperative neurological and neuropsychological evaluations. Full recovery of speech was seen in 3 out of 4 patients; the only child with persistent symptoms was the one who already had neuropsychological deficits before surgery. However, despite fast recovery of the speech disorders more persistent behavioural problems were found in 3 out of 4 patients. Possible pathogenesis anatomical location of this "cerebellar speech syndrome" are discussed, as well as the relevance of repeated neuropsychological assessments.
Subject(s)
Cerebellar Neoplasms/surgery , Cerebral Ventricle Neoplasms/surgery , Ischemic Attack, Transient/etiology , Mutism/etiology , Postoperative Complications/etiology , Speech Disorders/etiology , Astrocytoma/diagnosis , Astrocytoma/surgery , Cerebellar Neoplasms/diagnosis , Cerebral Ventricle Neoplasms/diagnosis , Child , Child, Preschool , Ependymoma/diagnosis , Ependymoma/surgery , Humans , Ischemic Attack, Transient/diagnosis , Male , Mutism/diagnosis , Neuroectodermal Tumors, Primitive/diagnosis , Neuroectodermal Tumors, Primitive/surgery , Neuropsychological Tests , Postoperative Complications/diagnosis , Speech Disorders/diagnosisABSTRACT
Treatment of Hodgkin disease (HD) in ataxia telangiectasia (AT) patients is hampered by hypersensitivity to radiation and chemotherapy. Most patients die, due to toxicity or, rarely, to progressive disease. The authors report on a 9-year-old girl with stage IIA HD and AT She was treated with a tailored combined modality approach. No unacceptable toxicity was found, but the girl died of a relapse outside the irradiation field. In comparison with fibroblasts of non-AT patients, the fibroblasts of the patient were 3 times as sensitive for radiotherapy but just 1.2 times as sensitive for doxorubicin. A good correlation was shown between in vitro radio- and chemosensitivity testing and the observed clinical toxicity. The authors suggest, therefore, treating AT patients as much as possible according to standard protocols by adjusting the radiotherapy delivery and the chemotherapy regimen to individual doses derived from in vitro radio- and chemosensitivity testing.