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71.
A Nørremølle E Budtz-Jørgensen K Fenger JE Nielsen SA Sørensen and L Hasholt 《Clinical genetics》2009,75(3):244-250
Huntington disease (HD) is caused by an expanded CAG repeat sequence in the HD gene. Although the age at onset is correlated to the CAG repeat length, this correlation only explains approximately half of the variation in onset age. Less variation between siblings indicates that the variation is, in part, explained by genetic modifiers. We analyzed polymorphic loci within or close to the HD gene on the HD chromosome in Danish HD patients. We found one specific haplotype segregating with later age at onset, compared with patients with similar CAG repeat length and another haplotype. The nine Danish families in the study carrying this haplotype most likely have a common founder. Several of the polymorphic loci displayed alleles that may be specific to the late-onset haplotype, implicating that from this study we cannot determine which of the loci tested (or other polymorphic loci in this chromosomal area) do in fact contain genetic modifiers of age at onset. 相似文献
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Moore AD; Godwin JD; Muller NL; Naidich DP; Hammar SP; Buschman DL; Takasugi JE; de Carvalho CR 《Radiology》1989,172(1):249-254
The authors retrospectively evaluated radiographs, computed tomographic (CT) scans, and results of pulmonary function tests (when available) for 17 patients with biopsy-proved pulmonary histiocytosis X. In 11 patients, high-resolution CT was used. In 12 patients, CT demonstrated cystic air spaces, usually less than 10 mm in diameter. In three of these 12, cysts were the only abnormality, but in six others, nodules (usually less than 5 mm in diameter) were also present. Two patients had only nodules and one, only emphysema. CT showed that many lesions that appeared reticular on plain radiographs were actually cysts. CT showed no central or peripheral concentration of lesions, but it did reveal that many small nodules were distributed in the centers of secondary lobules around small airways. CT findings correlated better with the diffusing capacity (rho = -0.71) than did the plain radiographic findings (rho = -0.57). Thus, CT was better than radiography at showing the morphology and distribution of lung abnormalities. 相似文献
75.
Among 600 infants examined with ultrasound for vomiting, seven (mean age, 3 months) had distinctive features that can be considered diagnostic of gastric ulcer. The findings are thickening of the mucosa (greater than 4 mm) in the antropyloric region, elongation of the antropyloric canal, persistent spasm, and delayed gastric emptying. Two of the infants had slight thickening of the pyloric muscle. Gastrointestinal series or endoscopy demonstrated thickened gastric mucosa and a deformed gastric antrum in all infants, as well as actual ulceration in five. 相似文献
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An improved catheter for pulmonary arteriography via the antecubital approach is described. The catheter has been used successfully in 56 patients. 相似文献
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Sanne C Hammer Charlotte MHHT Robroeks Christian van Rij Jan Heynens Richard Droog Quirijn Jöbsis Han JE Hendriks Edward Dompeling 《Pediatric allergy and immunology》2008,19(7):626-633
Several epidemiological studies described poor asthma control in children. However, the diagnosis of childhood asthma in these studies is uncertain, and asthma control in children of an outpatient clinic population during treatment by a paediatrician is unknown. (1) to investigate the hypothesis that asthma control in a paediatric outpatient clinic population is better than epidemiological surveys suggest; (2) to find possible explanations for suboptimal asthma control. Asthmatic children aged 6–16 years, known for at least 6 months by a paediatrician at the outpatient clinic, were selected. During a normal visit, both the responsible physicians and parent/children completed a standardised questionnaire about asthma symptoms, limitation of daily activities, treatment, asthma attacks and emergency visits. Overall, excellent asthma control of 8.0% in this study was not significantly better than of 5.8% in the European AIR study (Chi‐square, p = 0.24). Separate GINA goals like minimal chronic symptoms and no limitation of activities were better met in our study. Good to excellent controlled asthma was perceived by most children/parents (83%), but was less frequently indicated by the paediatrician (73%), or by objective criteria of control (45%) (chi‐square, p = 0.0001). The agreement between patient‐perceived and doctor assessed control was low, but improved in poorly controlled children. Patients were not able to perceive the difference between ‘excellent asthma control’ and ‘good control’ (p = 0.881).Too little children with uncontrolled disease got step‐up of their asthma treatment. Although separate GINA goals like ‘minimal chronic symptoms’ and ‘no limitation of activities’ were significantly better in our study, overall, asthma control in this outpatient clinic population, treated by a paediatrician, was not significantly better than in the European AIR study. Poorly controlled disease was related to several aspects of asthma management, which are potentially accessible for improvements. 相似文献
80.
Adverse effects of the transfusion of homologous blood on tumor recurrence and resistance to bacterial infection have been reported previously, but the findings are inconclusive. A retrospective review of patients undergoing orthopedic surgery was conducted, and the rate of the postoperative infectious complications was compared among those receiving homologous blood, autologous blood, both types, or no transfusion support. An overall postoperative infection rate of 6.1 percent was observed: 6.9 percent among persons receiving homologous blood, 5.0 percent among those receiving autologous blood, 11.9 percent among those receiving both homologous and autologous blood, and 4.9 percent among those not receiving transfusions (p = 0.37). Among patients receiving homologous blood, a subset of 15 patients received homologous whole blood and had an infection rate of 20 percent. Significant predictors of postoperative infection included increasing age, spinal surgery, high admission hematocrit, and greater time in surgery. Of factors relating to transfusion, only the use of homologous whole blood was a significant predictor of postoperative infection, which suggests a detrimental effect of homologous plasma. It can be concluded that, in this group of patients undergoing relatively nontraumatic surgery, several variables that are not related to transfusion, as well as the use of homologous whole blood, were significant predictors of postoperative infection. 相似文献