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31.
Beverly J. White Clare Crandall Jaap Goudsmit Chuck H. Morrow David W. Alling D. Carleton Gajdusek J -H. Tijio John M. Opitz 《American journal of medical genetics. Part A》1981,10(1):77-89
We present cytogenetic findings in 7 familial and 5 sporadic Alzheimer disease (AD) patients and 34 unaffected relatives, spouses, and normal controls. Our study was prompted by reports of increased chromosome abnormalities in patients and family members at risk for AD. Coded peripheral blood chromosome preparations were evaluated for aneuploidy, aberration rates, and banding patterns. Statistical analyses of our results showed no increase in aneuploidy or aberrations in AD patients, their relatives, or normals. Chromosome loss or gain in aneuploid cells was not specific except in two individuals. These two older persons studied, one with AD and one unaffected, were observed to have increased sex chromosome aneuploidy. This finding was attributed to aging and was not considered to be an effect of AD. 相似文献
32.
33.
Emet D. Schneiderman Stephen M. Willis Charles J. Kowalski Thomas R. Ten Have 《American journal of human biology》1992,4(3):399-401
A method for computing a measure of tracking based on Cohen's kappa statistic for one-sample longitudinal data sets was previously described and implemented. This paper shows how one may test the equality of several kappas, each computed from an independent longitudinal sample. Thus, it is possible to formally compare groups of individuals with regard to stability in growth (or adaptive) patterns. Relative assessments of predictability in growth outcomes in different populations can be made with this approach. Also, when a common value of kappa is not contradicted by the data, a method to estimate this value and obtain a confidence interval for it is shown. A menu-driven GAUSS program for carrying out the procedure is described and made available. The method and program are illustrated with three samples of Guatemalan children. © 1992 Wiley-Liss, Inc. 相似文献
34.
Hogg S Hof M Würbel H Steimer T de Ruiter A Koolhaas J Sluyter F 《Behavior genetics》2000,30(6):439-446
Artificially selected aggressive (SAL) and non-aggressive (LAL) male house mice were tested in a hexagonal tunnel maze and light-dark preference (LD) box to determine if the bidirectional selection for aggressive behavior leads to a coselection for different levels of trait anxiety. The tunnel maze consists of an open, brightly lit central arena surrounded by a complex system of interconnecting tunnels. As in the LD box, animals which spend less time and are less active in the brightly illuminated section of the maze are considered to have higher anxiety levels. In the tunnel maze, the LAL mice showed more exploration and spent more time in the central arena than the SAL animals, but only during the final 2 min of the 6-min test. This reduced preference for the central arena was not due to general inactivity or a failure of the SAL to find the central arena and indicates a higher level of state anxiety in the aggressive animals. In contrast, no anxiety-like differences were found in the LD box, either for the percentage of time spent in the light compartment or for the number of crossings. SAL males actually showed higher levels of moving and rearing, and lower levels of freezing, than did LAL males. 相似文献
35.
Emet D. Schneiderman Charles J. Kowalski Thomas R. Ten Have 《American journal of human biology》1990,2(5):475-490
Tracking can be defined as the tendency of individuals or collections of individuals to stay within a particular course of growth over time relative to other individuals. Thus, tracking describes stability in growth patterns. This paper outlines a statistical procedure for examining tracking in a single sample of measurements made on humans or other animals. This nonparametric procedure, based on Cohen's (1960) kappa statistic, is suitable for equally or unequally spaced serial data that is complete and is appropriate for questions concerning growth as well as other time-dependent phenomena. It is a conceptually simple longitudinal method that affords insight regarding the predictability of growth within a population. For example, by tracking, one can ask if young children who are in the lowest height for age category are likely to end up in that category at an older age. A user-friendly GAUSS program is provided that generates overall as well as individual and track-specific statistics. High-resolution graphic representations of the data are also generated by the program. Examples are presented, including a tracking analysis of Guatemalan Indian children using quartiles. 相似文献
36.
For purposes of mean incident energy determination and the accrual of consistent treatment planning data, measurements of relative ionization or dose made in clear polystyrene must be scaled in depth to produce depth-ionization or depth-dose curves equivalent to what would have been measured in water. Recommendations from various protocols for clear polystyrene to water depth scaling factors differ by as much as 5%. Here, central axis measurements of relative ionization as a function of depth have been made with parallel-plate chambers both in a popular clear polystyrene phantom of density 1.045 g/cm3 and in water. Perturbation and displacement corrections were thus minimized. Both depth-ionization and depth-dose curves were formed for electron beams with nominal incident energies between 6 and 20 MeV and field sizes from 6 cm X 6 cm to 15 cm X 15 cm. Comparisons of the depths for 50% relative reading and practical range between the two phantoms yield average empirical scaling factors of 0.990 and 1.002, respectively. 相似文献
37.
P Klück F J Ten Kate A W Van der Kamp D Tibboel J C Molenaar 《American journal of clinical pathology》1986,86(4):490-492
Until now, no pathologic explanation could be found for the postoperative obstipation occurring in some patients with intestinal aganglionosis. Twenty-two of 108 infants treated for intestinal aganglionosis suffered from postoperative obstipation. Resected material from these 22 patients and from 17 control subjects was investigated with monoclonal anti-neurofilament antibody staining. An abnormal staining pattern was revealed in 18 of the constipated patients. Consequently, this new immunohistochemical staining technic has revealed a hitherto unsuspected cause for postoperative obstipation in aganglionosis. The monoclonal antibody may provide early warning of such postoperative constipation. 相似文献
38.
Activation of bone morphogenetic protein/Smad signaling in bronchial epithelial cells during airway inflammation 总被引:8,自引:0,他引:8
Rosendahl A Pardali E Speletas M Ten Dijke P Heldin CH Sideras P 《American journal of respiratory cell and molecular biology》2002,27(2):160-169
Bone morphogenetic proteins (BMPs) are pleiotropic secreted proteins, structurally related to transforming growth factor (TGF)-beta and activins. BMPs play pivotal roles in the regulation of embryonic lung development and branching of airways and have recently been considered to influence inflammatory processes in adults due to their chemotactic activity on fibroblasts, myocytes, and inflammatory cells. In this study, we have investigated the possible involvement of BMPs in a model of experimental allergic-airway inflammation in situ using antibodies that detect activated Smad proteins, and have monitored the modulation of BMP ligands during the inflammatory response. Inflamed bronchial epithelial cells and a few scattered alveolar cells expressed levels of phosphorylated Smad1 (pSmad1/5), indicative of active BMP/Smad signaling. This was in contrast to healthy epithelium, which was devoid of immunoreactivity. A mechanistic explanation for increased pSmad1/5 staining during inflammation was provided by the upregulated expression of all the BMP type I receptors, i.e., activin receptor-like kinase (ALK)2, ALK3, and ALK6, in the inflamed bronchial epithelial cells. Furthermore, the mRNA and protein profiles for BMP ligands were significantly altered during airway inflammation with induction of BMP2, BMP4, and BMP6, and downregulation of BMP5 and BMP7. Collectively, our data demonstrate for the first time active BMP/Smad signaling during airway inflammation in bronchial epithelial cells and thus raise the possibility that BMPs could play a determining role in respiratory pathophysiology. 相似文献
39.
Rooijens PP de Krijger RR Bonjer HJ van der Ham F Nigg AL Bruining HA Lamberts SW van der Harst E 《Endocrine pathology》2004,15(1):39-45
The purpose of this study was to investigate tumor angiogenesis in a series of benign and malignant pheochromocytomas and
to determine whether there is a correlation between angiogenesis and the presence of distant metastases. In this study, the
CD31 monoclonal antibody was selected to measure intratumoral microvessel density. Nineteen patients with malignant pheochromocytomas
and nineteen patients with benign pheochromocytomas who underwent operation were studied. In order to quantify intratumoral
microvessel density, the total number of pixels of CD31-positive reactivity was assessed and expressed as a percentage of
the total tissue area in the analyzed field. Analysis of variance revealed a statistically significant correlation between
malignancy and intratumoral microvessel density (p=0.0009). Although there was a considerable variability in the intratumoral microvessel density from tumor to tumor within
both the benign and the malignant group, a percentage of more than 28.5% anti-CD31 stained area was found only in malignant
tumors. In conclusion, this study shows that the mean intratumoral microvessel density in malignant pheochromocytomas is increased
approximately two-fold as compared with benign tumors. However, the clinical significance of this prognostic marker is rather
weak, because only 4 of the 19 malignant pheochromocytomas had microvesel density higher than this threshold of 28.5%. 相似文献
40.
Schrander-Stumpel CT Curfs LM Sastrowijoto P Cassidy SB Schrander JJ Fryns JP 《American journal of medical genetics. Part A》2004,(4):333-338
The peroxisome biogenesis disorders (PBDs) with generalized peroxisomal dysfunction include Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). There is clinical, biochemical, and genetic overlap among the three phenotypes, also known as Zellweger spectrum disorders. Clinical distinctions between the phenotypes are not sharply defined. Only limited sources are available to serve as a background for prognosis in PBD, especially in case of prolonged survival. We delineated the natural history of 31 PBD patients (age 1.2-24 years) through systematic clinical and biochemical investigations. We excluded classical ZS from our study, and included all patients with a biochemically confirmed generalized peroxisomal disorder over 1 year of age, irrespective of the previously diagnosed phenotype. The initial clinical suspicion, age at diagnosis, growth, development, neurological symptoms, organ involvements, and survival are summarized. Common to all patients were cognitive and motor dysfunction, retinopathy, sensorineural hearing impairment, and hepatic involvement. Many patients showed postnatal growth failure, 10 patients displayed hyperoxaluria of whom 4 had renal stones. Motor skills ranged from sitting with support to normal gait. Speech development ranged from non-verbal expression to grammatical speech and comprehensive reading. The neurodevelopmental course was variable with stable course, rapid decline with leukodystrophy, spinocerebellar syndrome, and slow decline over a wide range of faculties as outcome profiles. At the molecular level, 21 patients had mutations in the PEX1 gene. The two most common PEX1 mutations were the G843D (c.2528G-->A) missense and the c.2097insT frameshift mutation. Patients having the G843D/G843D or the G843D/c.2097insT genotypes were compared. Patients homozygous for G843D generally had a better developmental outcome. However, one patient who was homozygous for the "mild" G843D mutation had an early lethal disease, whereas two other patients had a phenotype overlapping with the G843D/c.2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype. 相似文献