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91.
Ramos-Casals M García-Carrasco M Cervera R Gaya J Halperin I Ubieto I Aymamí A Morlà RM Font J Ingelmo M 《Medicine》2000,79(2):103-108
We studied 160 consecutive patients (147 female and 13 male) with primary Sj?gren syndrome (SS) to determine the prevalence and clinical significance of thyroid disease in a large series of patients with primary SS from our unit and to compare the prevalence and significance with those in 75 individuals without SS from a primary care center. Serum levels of thyroid hormones (free thyroxine, triiodothyronine, and thyroid-stimulating hormone) and autoantibodies against thyroglobulin (TgAb) and thyroid peroxidase (TPOAb) were measured in all SS patients and in 75 control patients. Fifty-eight (36%) of the 160 patients with primary SS had evidence of thyroid disease. Autoimmune thyroid disease (ATD) was diagnosed in 32 (20%) patients and nonautoimmune thyroid disease (NATD) in 26 (16%). No significant differences were found when these prevalences were compared with those in control patients. On the other hand, comparing those patients with altered hormonal profiles, patients with NATD showed mainly hyperthyroidism (10/17, 59% versus 2/20, 10% in patients with ATD, p = 0.001). Finally, when clinical and immunologic manifestations of SS were analyzed in patients with and without thyroid disease, respectively, we found that patients with thyroid disease had a higher prevalence of female gender (98% versus 88%, p = 0.03), antiparietal cell autoantibodies (33% versus 12%, p = 0.002), TgAb (30% versus 5%, p < 0.001), and TPOAb (40% versus 5%, p < 0.001). In conclusion, thyroid disease occurred in more than one-third of patients with primary SS; the main cause was ATD, which was present in 20% of the patients studied. We note that no significant differences were observed when the prevalence of thyroid disease (either ATD or NATD) was compared with that in a control group of similar age and gender. Our results indicate that middle-aged women (with or without SS) should be screened periodically for thyroid function. 相似文献
92.
Callén E Casado JA Tischkowitz MD Bueren JA Creus A Marcos R Dasí A Estella JM Muñoz A Ortega JJ de Winter J Joenje H Schindler D Hanenberg H Hodgson SV Mathew CG Surrallés J 《Blood》2005,105(5):1946-1949
Fanconi anemia (FA) is a genetic disease characterized by bone marrow failure and cancer predisposition. Here we have identified Spanish Gypsies as the ethnic group with the world's highest prevalence of FA (carrier frequency of 1/64-1/70). DNA sequencing of the FANCA gene in 8 unrelated Spanish Gypsy FA families after retroviral subtyping revealed a homozygous FANCA mutation (295C>T) leading to FANCA truncation and FA pathway disruption. This mutation appeared specific for Spanish Gypsies as it is not found in other Gypsy patients with FA from Hungary, Germany, Slovakia, and Ireland. Haplotype analysis showed that Spanish Gypsy patients all share the same haplotype. Our data thus suggest that the high incidence of FA among Spanish Gypsies is due to an ancestral founder mutation in FANCA that originated in Spain less than 600 years ago. The high carrier frequency makes the Spanish Gypsies a population model to study FA heterozygote mutations in cancer. 相似文献
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95.
Garcia-Olivé I Prats Bardají MS Calvo Pascual S Sánchez Berenguer D Valverde Forcada E Ruiz-Manzano J 《Archivos de bronconeumología》2008,44(3):170-172
Takayasu arteritis is an inflammatory disease that affects large vessels, especially the aorta and its branches. The clinical features of the disease depend on which arteries are affected. Although pulmonary artery involvement is common, only rarely is this the main clinical manifestation. We describe the case of a young woman with dyspnea who had severe pulmonary hypertension secondary to Takayasu arteritis of the pulmonary artery. She was administered corticosteroid (methylprednisolone) and immunosuppressant (azathioprine) therapy and a stent was implanted in the left pulmonary artery. Both hemodynamic and clinical signs improved. 相似文献
96.
Copolymerization of N‐(prop‐1‐yne‐3‐yl)‐4‐(piperidine‐1‐yl)‐1,8‐naphthalimide with Arylacetylenes into Fluorescent Polyacetylene‐Type Conjugated Polymers 下载免费PDF全文
Radoslava Sivkova Olga Trhlíková Jiří Zedník Jan Sedláček 《Macromolecular chemistry and physics.》2015,216(21):2115-2128
N‐(prop‐1‐yne‐3‐yl)‐4‐(piperidine‐1‐yl)‐1,8‐naphthalimide (PNPr), i.e., the monomer with a terminal ethynyl group and 1,8‐naphthalimide fluorophore, has been successfully copolymerized with a series of monoethynylarenes into well‐soluble high‐molecular‐weight (Mw up to 210 000) linear polyacetylene‐type copolymers containing from 14 to 51 mol% units derived from PNPr. The copolymerization of PNPr with bifunctional 4,4′‐diethynylbiphenyl provides polyacetylene‐type micro/mesoporous fluorescent network containing 8 mol% PNPr units and exhibiting the Brunauer–Emmett–Teller surface of ≈1000 m2 g?1. The copolymerizations (catalyzed with acetylacetonato(norborna‐2,5‐diene)rhodium complex, [Rh(nbd)acac]) proceed smoothly despite the fact that the homopolymerization of PNPr fails. The fluorescence of PNPr (emission at ≈ 510 nm) has been retained after the incorporation of PNPr into the copolymers. The fluorescence of the copolymers can be induced by a direct excitation of PNPr units or via an energy transfer mechanism. In the latter case, the comonomeric units with aromatic hydrocarbon fluorophores (e.g., of the biphenyl‐type) emitting at 380–400 nm (after irradiation with 300 nm UV radiation) serve as energy donors for fluorescent PNPr acceptors. The difference between the wavelengths of the primary absorbed radiation and the finally emitted radiation is 210 nm.
97.
Conditioned Subjective Responses to Socially Relevant Stimuli in Social Anxiety Disorder and Subclinical Social Anxiety 下载免费PDF全文
98.
Jiří Mertl Eva Žáčková Barbora Řepová 《Disability and rehabilitation. Assistive technology》2018,13(4):342-352
In this article, we deal with the problem of potential stigmatization and social exclusion of people that have voice/speech problems due to neck cancer, especially those who have lost their voice because of total laryngectomy, and we analyze how this potential stigmatization could be alleviated by personalized speech synthesis. We used a mixed-method approach, consisting of quality of life questionnaires and in-depth semi-structured interviews, in order to provide more generalizable as well as rich information. We found out that people with speech problems feel depressed because of their health status and anxiety during social interactions, as they think that other people perceive them as abnormal, or they directly experience symbolic violence. For overcoming these negative feelings, the crucial factors are family relationships and maintaining employment. In both factors, speech synthesis can help significantly.
- Implications for rehabilitation
Personalized speech synthesis can help considerably to people with severe voice impairment in their (re)integration into society.
Where possible and appropriate, personalized speech synthesis should be offered as an option to “traditional” voice substitutions.
99.
Dual endothelin‐1 receptor antagonism attenuates platelet‐mediated derangements of blood coagulation in Eisenmenger syndrome 下载免费PDF全文
B. Kevane S. Allen K. Walsh K. Egan P. B. Maguire M. C. Galligan D. Kenny R. Savage E. Doran Á. Lennon E. Neary F. Ní Áinle 《Journal of thrombosis and haemostasis》2018,16(8):1572-1579
Essentials
- Eisenmenger syndrome is characterised by thrombotic and hemorrhagic risks of unclear aetiology.
- Calibrated automated thrombography was used to assess these coagulation derangements.
- Platelet activity supported abnormalities in procoagulant and anticoagulant pathway function.
- Endothelin‐1 antagonism appeared to ameliorate these derangements.
Summary
Aims
The mechanisms underlying the competing thrombotic and hemorrhagic risks in Eisenmenger syndrome are poorly understood. We aimed to characterize derangements of blood coagulation and to assess the effect of dual endothelin‐1 receptor antagonism in modulating hemostasis in this rare disorder.Methods
In a 10‐month recruitment period at a tertiary cardiology referral center, during which time there were over 14 000 outpatient consultations, consecutive subjects with Eisenmenger syndrome being considered for macitentan therapy (n = 9) and healthy volunteers (n = 9) were recruited. Plasma thrombin generation in platelet‐rich and platelet‐poor plasma was assessed by calibrated automated thrombography prior to and following therapy.Results
Median peak plasma thrombin generation was higher in platelet‐rich plasma obtained from Eisenmenger syndrome subjects relative to controls (median peak thrombin [25th–75th percentile]: 228.3 [206.5–258.6] nm vs. 169.9 [164.3–215.8] nm ), suggesting a critical mechanistic role for platelets in supporting abnormal hypercoagulability in Eisenmenger syndrome. Abnormal enhanced sensitivity to the anticoagulant activity of activated protein C was also observed in platelet‐rich plasma in Eisenmenger syndrome, suggesting that derangements of platelet activity may influence the activity of anticoagulant pathways in a manner that might promote bleeding in this disease state. Following 6 months of macitentan therapy, attenuations in the derangements in both procoagulant and anticoagulant pathways were observed.Conclusions
Abnormal platelet activity contributes to derangements in procoagulant and anticoagulant pathways in Eisenmenger syndrome. Therapies targeting the underlying vascular pathology appear to ameliorate these derangements and may represent a novel strategy for the management of the competing prothrombotic and hemorrhagic tendencies in this disorder.100.