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排序方式: 共有1315条查询结果,搜索用时 31 毫秒
101.
Busse WW Peters SP Fenton MJ Mitchell H Bleecker ER Castro M Wenzel S Erzurum SC Fitzpatrick AM Teague WG Jarjour N Moore WC Sumino K Simeone S Ratanamaneechat S Penugonda M Gaston B Ross TM Sigelman S Schiepan JR Zaccaro DJ Crevar CJ Carter DM Togias A 《The Journal of allergy and clinical immunology》2011,127(1):130-137
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We compared serum creatine kinase (CK) levels between spinobulbar muscular atrophy (SBMA) and amyotrophic lateral sclerosis (ALS) and reviewed available histochemical studies of frozen sections of muscle biopsies. CK levels and the frequency of patients with elevated CK levels were significantly higher in the SBMA group when compared with the ALS group. CK levels occasionally approached values up to 8 times the upper limit of normal in the SBMA group. In addition to the chronic neurogenic changes in the muscle biopsy, all SBMA patients showed one or more myopathic changes. Increased numbers of markedly hypertrophic fibers were consistently seen in all patients. It is not clear whether the elevated CK level is directly related to the increased number of hypertrophic fibers or to other myopathic features. Based on these findings, we recommend genetic testing for SBMA in cases of male patients with motor neuron disease who present with a significantly elevated serum creatine kinase level, even when other characteristic clinical features of SBMA are absent. Muscle Nerve 40: 126–129, 2009 相似文献
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Souayah N Seltzer WK Brannagan TH Chin RL Sander HW 《Journal of the neurological sciences》2007,263(1-2):177-179
Myelin protein zero (MPZ) mutations cause demyelinating neuropathies that range from severe neonatal to milder adult forms. We report a 65-year-old woman with slowly progressive leg weakness starting at 47. Examination revealed distal weakness and atrophy in all extremities, impaired light touch in both feet and pin perception to proximal calves, absent leg reflexes, and unsteady gait. Electrodiagnostic studies revealed a severe sensorimotor polyneuropathy with conduction velocities of 25 m/s - to normal. The conduction velocities in the upper 20's were seen in lower extremities with severe reduction of the corresponding compound muscle action potential amplitudes. She had a MPZ mutation with A-C transversion (nucleotide: 116, codon: 10, histidine-to-proline). Her sister has an identical mutation, with high arches, distal leg weakness, decreased vibration sensation in toes and ankle areflexia. Nerve conduction studies revealed a moderate-severe sensorimotor polyneuropathy with nerve conduction velocities of 36 m/s - to normal. Their mother had an abnormal gait and conduction velocities of 29-30 m/s. A third sister is clinically and genetically unaffected. One report has previously described four patients with this mutation with similar clinical and electrodiagnostic features. In patients tested for possible CMT, the frequency of MPZ His-Pro codon 10 substitutions was 0.11% (27 of 24,076 alleles). 相似文献
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Huebner M Margulies RU Fenner DE Ashton-Miller JA Bitar KN DeLancey JO 《Diseases of the colon and rectum》2007,50(9):1405-1411
Purpose Age can affect the delicate physiologic balance of the internal anal sphincter diameters and pressure governed by Laplace’s
law. This study compares the effect of aging on the internal anal sphincter thickness and diameter in younger and older nulliparous
females without symptoms of fecal incontinence undisturbed by an endoanal probe.
Methods Magnetic resonance images were selected from a large database of nulliparous females to form two groups: “younger” females,
aged 30 years and younger (n = 32), and “older” females, aged 50 years and older (n = 32). All patients were scanned without
endoanal coils to allow undistorted measurement of the internal anal sphincter diameters. Inner and outer diameters were measured
from axial magnetic resonance images and used to calculate sphincter thickness and mean radius by two independent investigators
blinded to patient age.
Results The mean age in the younger group was 26 ± 2.8 years, whereas that of the older group was 61.8 ± 7.6 years. Older females
had a 33 percent thicker internal anal sphincter (younger vs. older: 4.5 ± 0.7 vs. 5.9 ± 1 mm; P < 0.001), a 20 percent larger inner diameter (7.1 ± 1.3 vs. 8.5 ± 1.8 mm; P = 0.001), and a 27 percent larger outer diameter (16 ± 2.1 vs. 20.3 ± 3.3 mm; P < 0.001) than younger females. Neither sphincter thickness nor inner or outer diameter correlated with body mass index.
Conclusions There is an increase in internal anal sphincter thickness, inner diameter, and outer diameter, which correlates with age in
asymptomatic nulliparous females.
Supported by the National Institutes of Health, ORWH & NICHD Sex & Gender Factors Affecting Women’s Health SCOR: P50, and
NICHD R01 HD 044406: NICHD R01 DK 051405, R01 HD 038665; German Research Foundation (DFG, HU1502/1–1).
Presented as a poster at the annual meeting of the American Urogynecologic Society, October 19 to 21, 2006, Palm Springs,
Florida.
Presented as an oral poster at the annual meeting of the International Urogynecological Association, September 6 to 9, 2006,
Athens, Greece.
Presented as an oral poster and oral presentation at the annual meeting of the German Association of Gynecology and Obstetrics,
September 19 to 22, 2006, Berlin, Germany. 相似文献
108.
Bittar MN Khasati NH Deiraniya AK Yonan N 《Asian cardiovascular & thoracic annals》2007,15(3):214-217
Interleukin-4 exerts anti-inflammatory effects through decreased macrophage production of tumor necrosis factor-alpha and interleukin-1 beta. We investigated genetic predisposition in the interleukin-4 response to coronary revascularization and studied the association between C-590T polymorphism, interleukin-4 levels, and outcome of surgery. DNA was obtained from 96 consecutive patients undergoing elective coronary revascularization. Patients were genotyped for interleukin-4 C-590T polymorphism using a sequence-specific primer polymerase chain reaction. Interleukin-4 levels were measured using an enzyme-linked immunosorbent assay in serum samples taken 3 hr postoperatively. The frequency of interleukin-4 C-590T genotypes CC, CT, and TT was 33.3%, 27.1%, and 39.6%, respectively. Patients with the TT genotype had significantly higher circulating levels of interleukin-4 (3.4 +/- 4.6 pg x mL(-1)) postoperatively compared to CC (2.5 +/- 0.1 pg x mL(-1)) and CT (2.7 +/- 0.5 pg x mL(-1)) genotypes. Interleukin-4 C-590T polymorphism is the main determinant of postoperative interleukin-4 levels. The TT genotype is the highest producer of interleukin-4. Neither the genotype nor the serum levels seem to play any role in recovery from coronary artery bypass surgery. 相似文献
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