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  • 1
    Electronic Resource
    Electronic Resource
    The Aase syndrome (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 153-157 
    Details
    ISSN: 1432-1076
    Keywords: Aase syndrome ; Hypoplastic anaemia ; Erythropoietic precursor ; Triphalangeal thumbs ; Cleft lip/palate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 5-month-old boy with congenital hypoplastic anaemia and triphangeal thumbs, known as the Aase syndrome, is described. In addition he had unilateral cleft lip and palate and abnormal dermatoglyphics. Only ten cases have been reported previously; these are reviewed. This case is the third patient reported to have the Aase syndrome who also has a cleft lip. Bone marrow cultures failed to stimulate production of erythropoietic precursors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441882
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  • 2
    Electronic Resource
    Electronic Resource
    Partial monosomy 10p syndrome (1981)
    Springer
    European journal of pediatrics 137 (1981), S. 243-246 
    Details
    ISSN: 1432-1076
    Keywords: Partial monosomy 10p ; Malformation-retardation syndrome ; De novo deletion 10p
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 7-year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter→p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441326
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  • 3
    Electronic Resource
    Electronic Resource
    The role of the 5-HT3 antagonists ondansetron and dolasetron in the control of delayed onset nausea and vomiting in patients receiving moderately emetogenic chemotherapy (1997)
    Springer
    Annals of oncology 8 (1997), S. 181-185 
    Details
    ISSN: 1569-8041
    Keywords: chemotherapy ; clinical trial ; emesis ; 5-HT3 antagonists
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background: 5-HT3 antagonists are effective inreducing the acute nausea and vomiting caused by cancer chemotherapy. However,it is not clear whether continuing these agents beyond twenty four hours isuseful in controlling emesis on days two to seven after chemotherapy. Patients and methods: Four hundred seven patients receivingmoderately emetogenic chemotherapy who had been given dexamethasone 8 mg i.v.and either ondansetron 32 mg i.v. or dolasetron 2.4 mg/kg i.v. were randomizedto continue either an oral form of their 5-HT3 antagonist(ondansetron 8 mg b.i.d. or dolasetron 200 mg daily) plus dexamethasone 8 mgp.o. daily or dexamethasone alone for days two to seven. Endpoints assessedby self-report were: 1) complete control (no vomiting, no rescue medications,no missing data) of emesis; 2) nausea severity; and 3) quality-of-life asmeasured by the EORTC QLQ-C30. Results: Continuation of 5-HT3 antagonists improvedslightly, but not significantly, the complete control rate (47% vs.41%; P = 0.24 one-sided) after chemotherapy. However, mean nauseaseverity was significantly (P = 0.015 one sided) reduced (by 3 mm on a10 cm scale) on the combined arm. Minimal differences in quality of life wereobserved. Conclusion: The benefit of continuing 5-HT3antagonists beyond 24 hours is modest and the merits of routine use in thesecircumstances debatable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008247830641
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  • 4
    Electronic Resource
    Electronic Resource
    Paternal duplication of chromosome 5q11.2–5q14 in a male born with craniostenosis, ear tags, kidney dysplasia and several other anomalies (1993)
    Springer
    Human genetics 〈Berlin〉 92 (1993), S. 481-485 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A de novo duplication of the proximal part of the long arms of chromosome 5 was found in a male born with craniostenosis, ear tags and kidney dysplasia. The nature of the chromosomal aberration was defined by fluorescence in situ hybridization and the orgin of the duplication was traced by polymorphic DNA markers. A comparison is made with the published cases showing similar duplications in the long arm of chromosome 5.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00216455
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  • 5
    Electronic Resource
    Electronic Resource
    Paracentric inversion inv(11) (q21q23) in the Netherlands (1990)
    Springer
    Human genetics 〈Berlin〉 85 (1990), S. 15-20 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary We report the result of investigations from 20 families with 72 carriers of the paracentric inversion inv(11)(q21q23) in the Netherlands. There is no increase in the rate of spontaneous abortions among carriers of the inversion or their partners. Also, so far, there are no children with recombinant chromosomes arising from the inversion. It is doubtful whether prenatal diagnosis would be helpful to carriers of this inversion. The results of the genealogy study and geographical distribution are discussed; it is suggested that all the families have arisen from a single mutation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00276319
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  • 6
    Electronic Resource
    Electronic Resource
    Second primary malignancies following the treatment of early stage ovarian cancer: Update of a study by the National Cancer Institute of Canada–Clinical Trials Group (NCIC–CTG) (2000)
    Springer
    Annals of oncology 11 (2000), S. 65-68 
    Details
    ISSN: 1569-8041
    Keywords: ovarian cancer ; second primary malignancies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Background:Ovarian cancer is the leading cause of death fromgynecological malignancies and the fourth most frequent fatal malignancy inwomen. Despite improved surgical techniques as many as 20% of womenwith early stage disease will eventually relapse and die from their disease.The post-operative management of these women remains controversial. Here wepresent the long term follow-up data of our previously published study, aswell as the incidence of second primary malignancies in these women. Patients and methods:Two hundred fifty-seven eligible patientswith stage I, IIA 'high risk' ovarian carcinoma and IIB, IIIO (diseaseconfined to pelvis) were randomized to either whole abdominal radiotherapy2,250 rads in ten fractions (107 patients), melphalan 8 mg/m2/d× 4 weeks × 18 courses (106 patients) or intraperitoneal chromicphosphate 10–20 mCi (44 patients). All patients were initially treatedwith pelvic radiotherapy. Results:Overall survival estimates at 10 years were: 45%in the whole abdominal radiotherapy arm; 49% in the melphalan arm and50% in the intraperitoneal chromic phosphate arm (P = 0.30).Relapse-free survival estimates at 10 years were: 50% in the wholeabdominal radiotherapy arm, 62% in the melphalan arm and 51%in the chromic phosphate arm (P = 0.147). Long term follow-up has notdemonstrated a significant difference between treatment arms. Second primarymalignancies developed in 29 women (11%) after 2,229 person years offollow-up. This compares to 18.7 second primary malignancies which would havebeen expected in this group of age-matched controls and was statisticallysignificant (P = 0.018). There was no significant difference in thetotal number of second primary malignancies between treatment arms. Melphalanappeared to be associated with an increased risk of developingleukemia/myelodysplastic syndrome compared to the whole abdominal radiotherapyarm (P = 0.06). Conclusions:Long-term follow-up has not demonstrated asignificant difference in overall or disease free survival between treatmentarms. An excess of second primary malignancies (35%) was observedsuggesting that lifelong surveillance is required in this population. Furtherresearch with newer treatment programs are needed to improve the cure ratesin this population.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1008356806417
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  • 7
    Electronic Resource
    Electronic Resource
    A validation study of the domains of the core EORTC Quality of Life Questionnaire (1993)
    Springer
    Quality of life research 2 (1993), S. 319-325 
    Details
    ISSN: 1573-2649
    Keywords: Cancer ; EORTC QLQ-C30 ; quality of life ; questionnaires ; validation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A cohort study was conducted to investigate the construct validity of the domains of the EORTC QLQ-C30 (European Organization for the Research and Treatment of Cancer Quality of Life Questionnaire). Ninety-six patients undergoing chemotherapy at the Kingston Regional Cancer Centre, Kingston, Canada were given the EORTC QLQ-C30 and two out of four comparison scales; the Sickness Impact Profile, the McGill Pain Questionnaire, the General Health Questionnaire and the Cancer Rehabilitation Evaluation System, to complete during their clinic visits. Using the multitrait-multimethod matrix to examine relationships, the Spearman ranked correlation coefficients of similar and dissimilar domains between the EORTC QLQ-C30 and the comparison scales were compared. The EORTC QLQ-C30 domains of pain and physical and role functioning performed well in that they converged and diverged appropriately with the other instruments. The domain of psychological functioning had strong associations with domains thought to be dissimilar (social interaction and fatigue). Social interaction and financial impact diverged across dissimilar domains. This lack of specificity may relate to question wording. The symptom domain had strong associations with other domains across the comparison scales. This study shows that the domains of the EORTC QLQ-C30 have substantial construct validity in the multidimensional assessment of the quality of life of cancer patients and identifies where further work is required.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00449426
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  • 8
    Electronic Resource
    Electronic Resource
    Inconsistency of prognostic factors for post-chemotherapy nausea and vomiting (1994)
    Springer
    Supportive care in cancer 2 (1994), S. 161-166 
    Details
    ISSN: 1433-7339
    Keywords: Anti-emetics ; Clinical trials ; Prognostic factors ; Subgroups
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A number of prognostic factors have been reported to influence the probability of developing nausea and vomiting after cytotoxic chemotherapy. This study used data collected in four randomized anti-emetic trials conducted by the Clinical Trials Group of the National Cancer Institute of Canada (NCIC-CTG) to assess the consistency of the effects of these prognostic factors. A total of 582 patients, all of whom had received moderately emetogenic chemotherapy for the first time, but who were assigned to different anti-emetics, were included in the analysis. The major findings was that the probability of post-chemotherapy nausea and vomiting was much more strongly influenced by the type of chemotherapy given and the type of anti-emetic used than by patient (e.g., age, gender) or environmental (e.g., treatment location, time of administration) characteristics. Further, patient-related factors had different, and sometimes opposite, effects in different anti-emetic and chemotherapy subgroups. Finally, the relative potency of anti-emetics appeared to vary with chemotherapy regimens. Implications of these findings for future studies are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00417474
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  • 9
    Electronic Resource
    Electronic Resource
    Fatigue in patients with cancer: results with National Cancer Institute of Canada Clinical Trials Group studies employing the EORTC QLQ-C30 (1997)
    Springer
    Supportive care in cancer 5 (1997), S. 410-413 
    Details
    ISSN: 1433-7339
    Keywords: Key words Fatigue ; Quality of life ; Clinical trials ; Outcome measures
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  The purpose of this study was to examine the factors which affect the level of fatigue among patients participating in clinical trials in which this symptom had been assessed with the EORTC QLQ-C30. Data were assembled from 2390 patients in ten clinical trials in which the QLQ-C30 had been used to assess baseline and on-study quality of life. The relationship between the level of fatigue reported by the patients on the fatigue scale of this questionnaire and patient and disease characteristics was assessed in univariate and multivariate cross-sectional analyses. In addition, changes in fatigue scores were compared in a longitudinal analysis among patients on two arms of an anti-emetic trial whose emesis control was markedly different. Baseline fatigue levels differed substantially among patients taking part in the different trials. Factors associated with greater fatigue severity on univariate analysis included: female gender, presence of metastatic disease, and poorer performance status. In addition, on multivariate analyses the oldest patients were found to have less fatigue, as were patients with breast cancer, while patients with ovarian and lung cancer experienced greater fatigue. Patients on the arm of the anti-emetic trial in which emesis was better controlled showed significantly less increase in fatigue after receiving chemotherapy. The fatigue scale of the QLQ-C30 appears to provide a useful approach to assessing this important symptom. The relationships found between fatigue and patient and disease characteristics need further exploration as does the degree to which the QLQ-C30 fully captures this dimension of quality of life.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s005200050100
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  • 10
    Electronic Resource
    Electronic Resource
    Psychometric properties and responsiveness of the EORTC Quality of Life Questionnaire (QLQ-C30) in patients with breast, ovarian and lung cancer (1994)
    Springer
    Quality of life research 3 (1994), S. 353-364 
    Details
    ISSN: 1573-2649
    Keywords: Breast cancer ; EORTC QLQ-C30 ; healthrelated quality of life ; lung cancer ; ovarian cancer ; psychometric properties
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The QLQ-C30, a health-related quality of life questionnaire developed for use in patients with cancer, has been previously validated in patients with lung cancer and head and neck cancer. In this study, further validation was carried out for 535 patients, including patients with breast cancer (n=143) and ovarian cancer (n=111) for whom there is no previously published validation, as well as patients with lung cancer (n=121). All patients were entered in one of two trials of anti-emetics to prevent chemotherapy-induced emesis. The QLQ-C30 was completed before chemotherapy and on day 8 after chemotherapy. The factor structure in patients with breast and ovarian cancer was similar to that previously described. Interdomain correlations, in the entire group, were strongest for the physical and role function domains and the fatigue, pain and global quality of life.domains before and after chemotherapy. In addition, after chemotherapy, social function was also strongly correlated with fatigue and global quality of life. These correlations were not always of equal strength in the breast, ovarian and lung groups, suggesting that there may be differences between these groups. The responsiveness of the QLQ-C30 in the presence of widely metastatic, as compared with locoregional, disease showed changes in the expected directions (i.e., diminished function in physical and social role functions and in global quality of life, with greater fatigue and pain in patients with metastatic disease). Eight days after chemotherapy, decreases were seen in physical, role and social functioning and in global quality of life, and there was greater fatigue, nausea and vomiting compared with before chemotherapy. Patients with breast cancer had better physical, role and social functioning, and less fatigue and pain than patients with ovarian cancer. This result is expected, since many of the patients with breast cancer had early stage disease, whereas those with ovarian cancer had advanced stage disease. Mean scores for patients with lung cancer were between the other two groups, in keeping with the mixture of early and advanced stage disease in these patients. There was a strong correlation between ECOG performance status scores and several domains of the QLQ-C30; these were all in the expected directions. The results of this study confirm those in earlier studies on patients with lung cancer, and provide new information on patients with breast and ovarian cancer. In addition, the QLQ-C30 is responsive to the effects of chemotherapy and of metastatic disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00451727
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