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81.
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission 总被引:2,自引:5,他引:2
Murray A; Macpherson JN; Pound MC; Sharrock A; Youings SA; Dennis NR; McKechnie N; Linehan P; Morton NE; Jacobs PA 《Human molecular genetics》1997,6(2):173-184
Factors involved in the stability of trinucleotide repeats during
transmission were studied in 139 families in which a full mutation,
premutation or intermediate allele at either FRAXA or FRAXE was
segregating. The transmission of alleles at FRAXA, FRAXE and four
microsatellite loci were recorded for all individuals. Instability within
the minimal and common ranges (0-40 repeats for FRAXA, 0-30 repeats for
FRAXE) was extremely rare; only one example was observed, an increased in
size at FRAXA from 29 to 39 repeats. Four FRAXA and three FRAXE alleles in
the intermediate range (41-60) repeats for FRAXA, 31-60 for FRAXE) were
unstably transmitted. Instability was more frequent for FRAXA intermediate
alleles that had a tract of pure CGG greater than 37 although instability
only occurred in two of 13 such transmissions: the changes observed were
limited to only one or two repeats. Premutation FRAXA alleles over 100
repeats expanded to a full mutation during female transmission in 100% of
cases, in agreement with other published series. There was no clear
correlation between haplotype and probability of expansion of FRAXA
premutations. Instability at FRAXA or FRAXE was more often observed in
conjunction with a second instability at an independent locus suggesting
genomic instability as a possible mechanism by which at least some FRAXA
and FRAXE mutations arise.
相似文献
82.
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84.
Oude Elberink JN 《Current opinion in allergy and clinical immunology》2006,6(4):298-302
PURPOSE OF REVIEW: Until recently, quality-of-life measures were only used in allergic diseases with ongoing symptoms, such as asthma and rhinoconjunctivitis. Anaphylaxis is a chronic disease without ongoing physical symptoms, but the problems concerning quality of life are related to the continuous vigilance required to prevent accidental exposure. This raises specific issues concerning the validation of quality-of-life instruments. RECENT FINDINGS: The preferred independent measure for validation generally is an objective measurement of the severity of disease (e.g. spirometry in asthma). In patients suffering from anaphylaxis, the perceived expectation of what will happen following exposure can be used as the key independent measure. Recently, a specific instrument measuring this expectation (the 'Expectation of outcome' questionnaire) has been developed, and successfully used in insect-venom anaphylaxis. SUMMARY: Also, in diseases without ongoing symptoms like anaphylaxis, quality of life can be measured and the disease-specific instrument validated. It is to be expected that many new instruments will be developed in the coming years to address important issues in anaphylaxis. They may provide a better understanding of the major problems of certain patient subgroups and may give direction to the kind of information that should be addressed and what kind of interventions could be important and whether they are useful or not. 相似文献
85.
Characterization of endometrial T lymphocyte subpopulations in spontaneous early pregnancy loss 总被引:1,自引:3,他引:1
T lymphocyte subpopulations were compared in normal first trimester human
decidua and in decidua associated with spontaneous abortion. Cryostat
sections were labelled using a panel of monoclonal antibodies specific for
CD3, CD8, CD4 and for the alphabeta and gammadelta heterodimers of the T
cell receptor using an avidin-biotin complex peroxidase method. All the
endometrial T cell subsets which have been demonstrated in normal early
pregnancy were detected in similar numbers and proportions in spontaneous
abortion. The findings suggest that adverse pregnancy outcome is not
influenced by altered proportions of T cell subpopulations; nevertheless,
the possibility remains that these cells may have an altered antigenic
phenotype in spontaneous abortion which could contribute to pregnancy
success or failure.
相似文献
86.
Intratemporal vascular tumors: detection with CT and MR imaging 总被引:1,自引:0,他引:1
Lo WW; Shelton C; Waluch V; Solti-Bohman LG; Carberry JN; Brackmann DE; Wade CT 《Radiology》1989,171(2):445-448
The diagnostic contributions of computed tomography (CT) and magnetic resonance (MR) imaging were compared in 12 patients with benign intratemporal vascular tumors (hemangioma or vascular malformation). The tumors included six in the internal acoustic canal and six in the geniculate ganglion region. Clinical and histologic correlations were made. Two of the six patients with tumors in the internal acoustic canal underwent CT, and both required gas cisternography to show the tumor. Five patients in that group underwent MR imaging, and all five studies showed the tumor. All six patients with geniculate ganglion tumors underwent CT. Results in one study were questionable, and five showed the tumor. Five patients in this group underwent MR imaging, but the MR findings were positive in only two cases. MR imaging should therefore be performed before CT in the evaluation of facial nerve dysfunction, as it demonstrated all tumors in the internal acoustic canal and some in the geniculate ganglion region. If MR findings are negative, CT should then be performed to rule out a possible geniculate ganglion lesion. 相似文献
87.
Pernes JM; Vitoux JF; Brenoit P; Raynaud A; Parola JL; Roth JP; Angel CY; Fiessinger JN; Roncato M; Gaux JC 《Radiology》1986,158(2):481-485
Thirty-five patients hospitalized for recent angiographically documented arterial occlusion in the legs (27 femoropopliteal arteries and eight grafts) benefited from local fibrinolytic therapy delivered at the site of the occlusion with a 4- or 5-F catheter. This therapy combined a continuous urokinase (UK) infusion of 1,000 U/kg/hour and a lysyl plasminogen (LYS-PLG) infusion of 15 microkatals every 30 minutes. Angiographically confirmed lysis was obtained in 85% of the cases. Only 3% of the patients had major and 6% had minor groin hematomas. Only two patients had concentrations of fibrinogen as low as 100 mg/dl. Intravascular infusion of UK-LYS-PLG is as effective as streptokinase. Its excellent tolerance makes it a good alternative in the treatment of acute ischemia in the lower limbs. 相似文献
88.
89.
Richard C Oude Voshaar Sube Banerjee Mike Horan Robert Baldwin Neil Pendleton Rebekah Proctor Nick Tarrier Yvonne Woodward Alistair Burns 《The American journal of geriatric psychiatry》2007,15(9):807-814
OBJECTIVE: Depression after hip fracture surgery is prevalent and associated with increased mortality rates and impaired functional recovery. The incidence of new-onset depressive symptoms in patients initially not depressed after hip fracture surgery and their relationship with functional recovery is unknown. METHODS: A cohort of 139 nondepressed elderly patients (>60 years) hospitalized for hip fracture surgery were followed up for six months. Clinically significant depressive symptoms were defined as a score of 7 or more on the 15-item Geriatric Depression Scale. RESULTS: The authors found a cumulative incidence rate of 20.5% adjusted for dropouts. Multiple Cox-regression analyses yielded the presence of subthreshold symptoms of depression, anxiety, pain, and cognitive impairment at baseline, the premorbid level of mobility, and a history of (treated) depression as risk factors for incident depression (p <0.05). A forward, conditional procedure identified postoperative pain (hazard ratio [HR] = 1.32, 95% confidence interval [CI]: 1.14-1.53, Wald chi(2) = 13.57, df = 1, p <0.001) and baseline anxiety (HR = 1.25, 95% CI: 1.08-1.44, Wald chi(2) = 8.86, df = 1, p = 0.003) as the strongest independent risk factors. Incident depression was associated with a less favorable outcome at 3 months follow-up. CONCLUSION: This exploratory study identified two treatable baseline characteristics that predicted incident depression in nondepressed patients after hip-fracture surgery. 相似文献
90.
JN Blau 《Cephalalgia : an international journal of headache》1993,13(4):293-295
Although nausea and vomiting are diagnostic migraine symptoms, most patients can take tablets by mouth and a few say they can eat some food. This study was conducted to determine the proportion who could eat or drink, what was consumable and with what effect. One-hundred-and-nine migraineurs were asked what they could eat or drink at the beginning or height of their attacks; 59 could not take any food by mouth, but 50 could eat during the headache phase of their migraine attacks. Four ate normally, 5 took smaller amounts of their normal dietary intake, and 3 took lighter meals. Dry, carbohydrate foods were consumable by the remaining 38: a few had specific cravings, most stated the precise variety which, when eaten, reduced nausea, headache, other symptoms or length of attacks. Patients should therefore be encouraged to eat what they can tolerate, with their tablets taken as early as possible after the onset of attacks. Simultaneous nausea, tolerance or even craving for specific foods occur in other conditions, particularly high altitude headaches which share other features of migraine attacks. The observations in this paper support the notion that migraine is a central neuronal metabolic disturbance. 相似文献