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1.
Patients at Boston's Children's Hospital diagnosed as having cerebral palsy were filmed walking. These films were digitized and translated into measurements associated with leg motion. In this paper we use the gait measurements of 128 such patients to illustrate that the kth nearest neighbour clustering procedure results in a gait typology for patients with cerebral palsy. The procedure identifies four subpopulations from the sample data; the membership of a patient within this typology is mostly determined by the patient's motor control. The developed typology differs from the present diagnostic system which classifies a cerebral palsy patient as either quadriplegic, diaplegic or hemiplegic. 相似文献
2.
K F Tait T Marshall J Berman J Carr-Smith B Rowe J A Todd S C Bain A H Barnett S C L Gough 《Diabetic medicine》2004,21(4):358-362
AIMS: Autoimmune disorders co-exist in the same individuals and in families, implying a shared aetiology. The aim of this study was to compare the prevalence of the common autoimmune diseases in the parents of siblings from the Type 1 diabetes Warren repository with the general population. METHODS: Between 1989 and 1996, 505 British families with at least two siblings affected by Type 1 diabetes were recruited. Clinical information was collected regarding the presence of autoimmune disease in the parents and the prevalence of disease in the parents was compared with that expected in the general population. RESULTS: The prevalence of autoimmune disease in the parents was significantly higher in the repository compared with that expected in the general population [P-value = 1.98 x 10(-5) (female), P-value = 1.1 x 10(-8) (male)]. Type 1 diabetes was recorded in 63/1010 (6.2%) parents with a marked paternal preponderance (9.5 vs. 3%P = 0.002). Other autoimmune diseases affected 27% of parents with diabetes and 13.2% of parents without diabetes (P < 0.01). CONCLUSION: These data confirm the importance of family history as a significant risk factor for the development of Type 1 diabetes and support the hypothesis that the common autoimmune diseases share at least some aetiological mechanisms. 相似文献
3.
Martin Haupt Alexander Kurz Stefan Pollmann Barbara Romero 《Journal of neurology》1992,239(5):248-250
Summary Ninety outpatients with Alzheimer's disease according to ICD-10 diagnostic draft criteria were studied to test the hypothesis that cases with a familial aggregation are different from cases without such an aggregation with respect to cognitive impairment. In all cases the diagnosis of Alzheimer's disease was confirmed by prospective observation within 12 months of initial evaluation. Patients were divided into two groups: one consisting of 23 patients with a familial aggregation, the other consisting of 67 patients without secondary cases among first-degree relatives. By means oft-tests differences in impairment of cognitive functions between the groups were calculated. The results did not yield statistically significant differences between the groups for any of the neuropsychologically investigated cognitive deficits. Thus the hypothesis that the presence of a familial aggregation may lead to a distinct phenotype in Alzheimer's disease was not confirmed. 相似文献
4.
Kousaku Matsubara M.D. Kei Suzuki M.D. Ying Wei Lin M.D. Toshiyuki Yamamoto M.D. Shigeru Ohta M.D. 《Pediatrics international》1991,33(4):482-487
We present two female siblings with familial juvenile nephronophthisis (FJN) which was diagnosed at the early stage of renal failure. Diagnosis was made during the investigation of anemia in case 1 and by a subsequent family survey in case 2. Most patients with FJN are not identified until the terminal stage of renal failure and such cases have rarely been reported in Japan. Case 2 had a reduction in the maximum urinary concentration ability but no azotemia, and among the FJN patients reported in Japan so far she has the least advanced renal disease. Histological examination of the renal biopsy in case 1 showed typical findings of FJN, such as thickening and lamination of the tubular basement membrane (TBM), interstitial fibrosis, and round cell infiltration of the interstitium. In case 2, renal biopsy revealed an irregular marked thickening of the TBM with trivial interstitial changes and a normal glomerular appearance. The histology of these two cases suggests that the TBM may be the primary site affected in FJN. 相似文献
5.
Malcolm E. Richardson Samuel Menahem James L. Wilkinson 《International journal of cardiology》1991,30(3):351-353
In this report, we give details of two families in which fixed subaortic stenosis was found in more than one member. It is rare for this entity to show familial incidence. 相似文献
6.
Hagit Cohen Joseph Zohar Michael A Matar Zeev Kaplan Amir B Geva 《Neuropsychopharmacology》2005,58(8):640-650
BACKGROUND: Unsupervised fuzzy clustering (UFC) analysis is a mathematical technique that groups together objects in the multidimensional feature space according to a specified similarity measurement, thereby yielding clusters of similar data points that can be represented by a set of prototypes or centroids. METHODS: Since clinical studies of mental disorders distinguish between affected and unaffected individuals, we designed an inclusion/exclusion criteria (cutoff behavioral criteria [CBC]) approach for animal behavioral studies. The effect of classifying the study population into clearly affected versus clearly unaffected individuals according to behaviors on two behavioral paradigms was statistically significant. RESULTS: Here the raw data from previous studies were subjected to UFC algorithms as a means of objectively testing the validity of the concept of the CBC for our experimental model. The first UFC algorithm yielded two clearly discrete clusters, found to consist almost exclusively of the exposed animals in the one and unexposed animals in the other. The second algorithm yielded three clusters corresponding to animals designated as clearly affected, partially affected, and clearly unaffected. The algorithm for physiological data in addition to behavioral data failed to elicit discrete clusters. CONCLUSIONS: The UFC analysis yielded data that support the conceptual contention of the CBC and lends additional validity to our previous behavioral studies. 相似文献
7.
M. Banyai G. Lupattelli S. R. Li S. Pongratz Q. Yang P. Böck P. Angelberger I. Virgolini 《European journal of nuclear medicine and molecular imaging》1994,21(7):634-639
The binding of radiolabelled lipoproteins, iodine-123-labelled low-density. lipoprotein (LDL) and indium-111-labelled LDL, to peripheral blood mononuclear cells (MNCs) was compared in normolipaemic subjects and in patients with heterozygous familial hypercholesterolaemia (FH). 123I-LDL and 111In-LDL binding to MNCs exhibited high-affinity, highly specific, time- and temperature-dependent binding reaching saturation at concentrations above 50 nM. The number of LDL binding sites (Bmax) was significantly (P<0.01) lower in FH patients (P<0.001; 123I-LDL: Bmax 279±44 ng protein/108MNCs; 111In-LDL: Bmax 309±43 ng protein/108MNCs) as compared with controls (123I-LDL: Bmax 2874±246 ng protein/108 MNCs; 111In-LDL: Bmax 3145±339 ng protein/108 MNCs). The corresponding dissociation constants (K
d) were 16±8 nM for 123I-LDL and 12±6 nM for 123In-LDL in healthy volunteers (123In-LDL vs 111In-LDL, P<0.05). In FH patients, the K
d values were 20±8 nM for 123I-LDL and 16±6 nM for 123In-LDL (P<0.05 vs controls for both 123I-LDL and 111In-LDL). 111In-LDL binding to MNCs was inhibited (IC50) by 30±8 nM in healthy controls and 38±12 nM in FH patients (P<0.05). 123In-LDL binding to MNCs was inhibited (IC50) by 34±8 nM in healthy controls and 46±10 nM in FH patients (P<0.05). Taken together, these results suggest a reduced number of LDL receptors expressed on MNCs from FH patients. We conclude that 111In-LDL and 123I-LDL are equally well suited as a probe of receptor-mediated binding and uptake of LDL. 相似文献
8.
Neuropathological findings in two siblings with familial erythrophagocytic lymphohistiocytosis (FEL) are reported. Case 1 showed the typical neuropathological findings of FEL with lymphohistiocytic infiltration of the leptomeninges and perivascular spaces. A characteristic erythrophagocytosis was detected in inguinal lymph nodes, lung and bone marrow. Case 2 revealed calcification and necrotic lesions in the brain. In the necrotic areas, parenchymal calcification, vascular medial calcification, and occlusion of many vessels due to subendothelial fibrosis were detected. The areas of necrosis correlated with the distribution of occluded vessels. These changes were most prominent in putamen, internal capsule, thalamus and dentate nucleus. Hypercytokinemia is suspected to be the underlying mechanism for the clinical and laboratory findings in patients with FEL, although the relationship to the vascular pathology is unclear. 相似文献
9.
P. L. Mensah 《Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale》1980,38(3):267-271
Summary The position of the largest striatal neuron within territories delimited by medium-sized clustered neurons was charted in Nissl-stained sections through the mouse caudate-putamen nucleus. Medium-sized neuron somata occur in close proximity to this large cell at some point in the anteroposterior, mediolateral or dorsoventral extent of its soma. The size of the network of medium-sized neurons associated with the large cell may vary from two to 15 neurons. Even when this network is extensive, the large neuron is never completely surrounded. Most often, this cell also borders a fascicle of internal capsule fibers, and the entire cellular island may be aligned either parallel to or perpendicular to the orientation of these fibers. These findings suggest the hypothesis that cellular territories in the caudate-putamen nucleus have a very specific orientation in three dimensional space. 相似文献
10.
Anne Mellon Mogensen Esther Hage Steffen Bülow 《Virchows Archiv : an international journal of pathology》1989,414(4):321-324
Summary Electron microscopical studies on endocrine cell hyperplasia of duodenal adenomas from five patients with familial adenomatous polyposis were performed. All the endocrine cell types normally found in the duodenal mucosa were identified. A constant feature was proliferation of duodenal-enterochromaffin cells but an increase in the number of all other endocrine cell types apart from pyloricgastrin cells and somatostatin cells, was also observed. Certain types of intestinal endocrine cells (the intestinal enterochromaffin cell and the glicentin cell) are rare cells in the normal duodenal mucosa. The finding of these cells may indicate increased biological aggressivity. 相似文献