An approach to the determination of the optimal control of fracture and strength parameters in a piezoceramic halfspace with cracks under antiplane deformation conditions is proposed. The ...distribution over certain part of the halfspace boundary, harmonically changing with time under the influence of axial forces or electric charges is analyzed as a control interaction. The solution of the inverse problem in fracture mechanics is obtained from the solution of the corresponding direct boundary value problem; in this case, the optimization problem is reduced to the momentum problem. The solution of the direct electroelastic problem using the method of the boundary integral equations is obtained. Various control functions permitting to realize the optimal process of control, i.e. the minimal energetic expenses, are given.
Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasian populations. The Spanish CF population is highly heterogeneous, with more than 70 different mutations causing CF. ...Since the CFTR gene was cloned, we have performed 81 prenatal diagnoses for 74 couples. Sixty‐nine cases had a high risk (1/4) for CF and 12 presented a lower risk (1/240). Direct analysis was possible in 36 cases (44·4 per cent); it was necessary to combine mutation analysis with polymorphic markers in 24 cases (29·6 per cent); mutation analysis and microvillar enzymatic (MVE) analysis were combined in five cases (6·1 per cent); and in 16 cases (19·8 per cent), only indirect analysis was possible. Nine different mutations were detected in this series of families: 621+1G→T, ΔF508, 1609delCA, G542X, G551D, 1949del84, R1162X, W1282X, and N1303K. Another ten mutations were identified in these samples after prenatal diagnosis (1811+1.6kbA→G, 711+1G→T, 2869insG, G85E, 2176insC, ΔI507, 3272‐26A→G, Q890X, R1066C, and 4005+1G→A). Our current strategy for molecular diagnosis of CF in the Spanish population is based, as a first step, on direct analysis for the two most frequent mutations (ΔF508 and G542X) and indirect analysis using the intragenic markers IVS8CA, IVS17BTA, and IVS17BCA. The second step consists of screening for the mutations already associated with the CFTR microsatellite haplotypes. The third step is a specific search for unknown mutations. While actual diagnostic methods are not automatic and robust enough for heterogeneous populations, the diagnostic strategy outlined provides rapid, accurate, and reliable prenatal diagnosis for the majority of couples.
Objective
To examine the frequency and characteristics of headaches and their association with global disease activity and health‐related quality of life (HRQOL) in patients with systemic lupus ...erythematosus (SLE).
Methods
A disease inception cohort was assessed annually for headache (5 types) and 18 other neuropsychiatric (NP) events. Global disease activity scores (SLE Disease Activity Index 2000 SLEDAI‐2K), damage scores (Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index SDI), and Short Form 36 (SF‐36) mental and physical component summary scores were collected. Time to first headache and associations with SF‐36 scores were analyzed using Cox proportional hazards and linear regression models with generalized estimating equations.
Results
Among the 1,732 SLE patients enrolled, 89.3% were female and 48.3% were white. The mean ± SD age was 34.6 ± 13.4 years, duration of disease was 5.6 ± 5.2 months, and length of followup was 3.8 ± 3.1 years. At enrollment, 17.8% of patients had headache (migraine 60.7%, tension 38.6%, intractable nonspecific 7.1%, cluster 2.6%, and intracranial hypertension 1.0%). The prevalence of headache increased to 58% after 10 years. Only 1.5% of patients had lupus headache, as identified in the SLEDAI‐2K. In addition, headache was associated with other NP events attributed to either SLE or non‐SLE causes. There was no association of headache with SLEDAI‐2K scores (without the lupus headache variable), SDI scores, use of corticosteroids, use of antimalarials, use of immunosuppressive medications, or specific autoantibodies. SF‐36 mental component scores were lower in patients with headache compared with those without headache (mean ± SD 42.5 ± 12.2 versus 47.8 ± 11.3; P < 0.001), and similar differences in physical component scores were seen (38.0 ± 11.0 in those with headache versus 42.6 ± 11.4 in those without headache; P < 0.001). In 56.1% of patients, the headaches resolved over followup.
Conclusion
Headache is frequent in SLE, but overall, it is not associated with global disease activity or specific autoantibodies. Although headaches are associated with a lower HRQOL, the majority of headaches resolve over time, independent of lupus‐specific therapies.
Cystic fibrosis transmembrane regulator (CFTR), multidrug-resistant (MDR)1, and multidrug resistance-associated (MRP) proteins belong to the ATP-binding cassette (ABC) transporter superfamily. A ...compensatory regulation of MDR1 and CFTR gene expression has been observed in CFTR knockout rodent intestine and in an epithelial cell line of human colon, whereas a high homology and similar anion binding site are shared by MRP and CFTR proteins. To provide better insight into the relationship among the expression behavior in vivo of the three genes in human testis, analysis of MDR1 and MRP gene expression in testicular biopsies was performed and related to the presence of CFTR gene mutations in congenital absence of the vas deferens (CAVD: n = 20) and non-CAVD (n = 30) infertile patients with azoospermia or severe oligozoospermia. A CFTR mutation analysis performed in both groups of patients supported the involvement of CFTR gene mutations in CAVD phenotype (85%) and in defective spermatogenesis (19%). Quantitative reverse transcription-polymerase chain reaction analysis of testicular tissue showed a CFTR-independent MDR1 and MRP gene expression in human testis, suggesting that the mechanisms underlying CFTR gene regulation in testis are different from those in intestine. These findings should contribute to the understanding of patterns of in vivo expression of CFTR, MDR1, and MRP genes in CFTR -related infertility.
Sjögren’s syndrome (SS) is a systemic autoimmune disease that mainly affects the exocrine glands and usually presents as persistent dryness of the mouth and eyes. SS typically affects white ...perimenopausal women, with an incidence of 4–5 cases per 100,000. At present, there is no treatment capable of modifying the evolution of SS and the therapeutic approach is based on symptomatic replacement or stimulation of glandular secretions, using substitutive and oral muscarinic agents. Extraglandular involvement requires organ-specific therapy generally based upon some combination of glucocorticoids and immunosuppressive agents, similar to that applied in patients with systemic lupus erythematosus (SLE) 1.
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