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151.
152.
Bilateral ulnar agenesis is a rare abnormality. A total of 36 cases are analyzed: 35 of these are documented in the literature and 1 stillborn male is presented in this study. Most patients had one of the three conditions: Al-Awadi/Raas-Rothschild syndrome, syndrome of ulnar aplasia with split hand/split foot deformity, or the Brachmann—de Lange syndrome. Fifty percent of all cases with bilateral ulnar agenesis were associated with lower limb defects and these cases, for the most part, also belonged to the aforementioned syndromes. Nonskeletal, internal organ malformations were identified in 34% of all patients. Nine patients presented with isolated bilateral ulnar agenesis. The Al-Awadi/Raas-Rothschild syndrome and the split hand/split foot deformity are heritable disorders. There was no evidence for genetic etiology in most of the other cases. Bilateral ulnar agenesis in our fetus was part of the Brachmann—de Lange syndrome with associated cardiac defect, diaphragmatic hernia, and umbilical artery agenesis. 相似文献
153.
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155.
Semi-structured interviews were conducted with a cohort of 22 test applicants who requested Huntington's disease (HD) predictive testing in South Wales, and a random sample of 32 non-requesters, drawn from the South Wales HD register. Apart from identifying differences between the groups, the study afforded the opportunity to listen, at length, to at-risk individuals' accounts of living at risk and their thoughts about predictive testing and genetic services. Emergent themes included difficulties in family communication and the uncertainties inherent in being at risk and undergoing testing. Important factors in decision making about testing were: moral imperatives to clarify one's genetic status; views about the controllability of the future; family attitudes and norms; and the impact of a test result on family members. At-risk individuals' perceptions of the genetics service were that contact with the service would result in pressure to be tested and a need for test applicants to present a favourable view of coping capacities to secure testing. In addition, there was an expectation of ongoing contact with HD families at the initiative of the service providers. Implications of the findings for the way in which predictive testing services are structured and introduced to the at-risk population are discussed. 相似文献
156.
Martin Klomp Peter M. Van den Bergh Frits J. H. Harinck 《Child & youth care forum》1997,26(5):343-355
In child and youth care in the Netherlands, systematic planning of treatment is more and more considered to be a condition
for effective and well founded treatment. Although workers are convinced of the benefits of treatment plans, treatment planning
is not yet a natural and integrated part of residential care. There are several pressure points. In this article a model of
treatment planning will be presented that contributes to an answer to these pressure points. The theoretical bases and the
practical implications of this model will be discussed. 相似文献
157.
Patrick E. Barta Richard E. Powers Elizabeth H. Aylward Gary A. Chase Gordon J. Harris Peter V. Rabins Larry E. Tune Godfrey D. Pearlson 《Psychiatry Research: Neuroimaging》1997,68(2-3):65-75
Volumes of medial and lateral temporal lobe structures were assessed using magnetic resonance imaging (MRI) in 11 patients with late-life onset schizophrenia (LOS), 18 normal elderly controls and 12 patients with moderate cognitive impairment due to Alzheimer's disease (AD) who had no non-cognitive symptoms. While both patient groups has smaller volumes of several medial temporal regions (e.g. entorhinal cortex, left hippocampus), schizophrenics had significantly smaller anterior superior temporal gyri (STG) than normal controls, but AD patients did not. We have previously demonstrated anterior STG volume to be reduced in early life onset schizophrenia. 相似文献
158.
159.
Arnold Criel Gregor Verhoef Robert Vlietinck Cristina Mecucci Johan Billiet Lucienne Michaux Peter Meeus ries Louwagie Angeline Van Orshoven Achiel Van Hoof Mark Boogaerts Herman Van den Berghe & Chris De Wolf-Peeters 《British journal of haematology》1997,97(2):383-391
We analysed a group of 390 patients, diagnosed with chronic lymphocytic leukaemia (CLL). Cases were subclassified as morphologically typical and atypical CLL according to the criteria of the FAB proposal. Typical CLL cases were mostly diagnosed at a low-risk stage (Binet A/Rai 0), required no immediate treatment and expected a long survival; atypical CLL cases mostly presented at a more advanced risk stage (Binet B/Rai I–II), usually required immediate treatment and their survival was shorter. Moreover, clinical staging was of prognostic significance in typical but not in atypical cases. In typical CLL, del(11q) was the most common chromosomal abnormality (21%) whereas in atypical CLL trisomy 12 was found in about 65% of the cases documented with an abnormal karyotype. Although chromosomal abnormalities were associated with a poor survival in typical CLL, they are of no prognostic significance in atypical CLL. Based on these data, we conclude that subtyping CLL by morphology enables the identification of two groups of cases, each characterized by a specific clinical presentation, different cytogenetic abnormalities and prognostic parameters. We speculate that these two groups may represent two related, but different, diseases with different prognostic parameters and a different survival. 相似文献
160.
H. H. Peter 《Der Internist》1997,38(6):514-519
Zum Thema
Autoimmunerkrankungen haben auch im letzten Jahrzehnt des 20. Jahrhunderts nichts von ihrer Faszination in Klinik und Grundlagenforschung
verloren. Neben der Erforschung der Ursachen für den Verlust der immunologischen Toleranz tritt zunehmend auch die Erforschung
etablierter und zukünftiger Therapiekonzepte. Aus der Sicht des Klinikers werden hier die etablierten Therapiestrategien und
neuere Forschungsrichtungen in der Behandlung der entzündlich-rheumatischen Systemerkrankungen dargestellt. 相似文献