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排序方式: 共有307条查询结果,搜索用时 15 毫秒
1.
Oscillatory motion of the normal cervical spinal cord 总被引:2,自引:0,他引:2
2.
3.
Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations 总被引:9,自引:1,他引:9
Meyer J; Sudbeck P; Held M; Wagner T; Schmitz ML; Bricarelli FD; Eggermont E; Friedrich U; Haas OA; Kobelt A; Leroy JG; Van Maldergem L; Michel E; Mitulla B; Pfeiffer RA; Schinzel A; Schmidt H; Scherer G 《Human molecular genetics》1997,6(1):91-98
It has previously been shown that, in the heterozygous state, mutations in
the SOX9 gene cause campomelic dysplasia (CD) and the often associated
autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one
recurrent mutation were characterized in one SOX9 allele each, and in one
case, no mutation was found. Four missense mutations are all located within
the high mobility group (HMG) domain. They either reduce or abolish the
DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense
and three frameshift mutations identified, two leave the C-terminal
transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or
almost completely intact. When tested in cell transfection experiments, the
recurrent nonsense mutation Y440X, found in two patients who survived for
four and more than 9 years, respectively, exhibits some residual
transactivation ability. In contrast, a frameshift mutation extending the
protein by 70 residues at codon 507, found in a patient who died shortly
after birth, showed no transactivation. This is apparently due to
instability of the mutant SOX9 protein as demonstrated by Western blotting.
Amino acid substitutions and nonsense mutations are found in patients with
and without XY sex reversal, indicating that sex reversal in CD is subject
to variable penetrance. Finally, none of 18 female patients with XY gonadal
dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP
assays, providing evidence that SOX9 mutations do not usually result in XY
sex reversal without skeletal malformations.
相似文献
4.
Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
5.
High-dose immunosuppressive therapy with autologous hematopoietic stem cell transplantation as a treatment option in multiple sclerosis 总被引:1,自引:0,他引:1
Shevchenko YL Novik AA Kuznetsov AN Afanasiev BV Lisukov IA Kozlov VA Rykavicin OA Ionova TI Melnichenko VY Fedorenko DA Kulagin AD Shamanski SV Ivanov RA Gorodokin G 《Experimental hematology》2008,36(8):922-928
High-dose immunosuppressive therapy (HDIT) with autologous hematopoietic stem cell transplantation (auto-HSCT) is a new and promising approach to the treatment of multiple sclerosis (MS) patients because currently there are no effective treatment methods for this disease. In this article, we present results of a prospective clinical study of efficacy of HDIT + auto-HSCT in MS patients. The following treatment strategies were employed in the study: "early," "conventional," and "salvage/late" transplantation. Fifty patients with various types of MS were included in this study. No toxic deaths were reported among 50 MS patients; transplantation procedure was well-tolerated by the patients. The efficacy analysis was performed in 45 patients. Twenty-eight patients achieved an objective improvement of neurological symptoms, defined as at least 0.5-point decrease in the Expanded Disability Status Scale (EDSS) score as compared to the baseline and confirmed during 6 months, and 17 patients had disease stabilization (steady EDSS level as compared to the baseline and confirmed during 6 months). The progression-free survival at 6 years after HDIT + auto-HSCT was 72%. Magnetic resonance imaging data were available in 37 patients before transplantation showing disease activity in 43.3%. No active, new, or enlarging lesions were registered in patients without disease progression. In conclusion, HDIT + auto-HSCT suggests positive results in management of patients with different types of MS. Identification of treatment strategies based on the level of disability, namely "early," "conventional," and "salvage/late" transplantation, appears to be feasible to improve treatment outcomes. 相似文献
6.
7.
PO Ajiboye OA Abiodun MF Tunde-Ayinmode OIN Buhari EO Sanya KW Wahab 《African health sciences》2013,13(3):624-631
Back ground
Stroke produces a wide range of mental and emotional disorders. Neuropsychiatric complications associated with stroke may have negative effects on the social functioning, overall quality of life and the recovery of motor functioning of stroke survivors.Objective
To determine the prevalence and nature of psychiatric morbidity among stroke patients attending neurology outpatient clinic of the University of Ilorin Teaching Hospital (UITH), Ilorin-Nigeria.Methods
All patients with stroke aged 18 years and above at an outpatient neurology clinic in Ilorin, Nigeria were assessed for mental and emotional disorders using the Schedule for Clinical Assessment in Neuropsychiatry (SCAN) over one year (March 2009 to February 2010).Results
Overall prevalence of psychiatric morbidity was 36.0% (30/83) among 83 patients who constituted the study population. Specific diagnoses recorded were depression (19.2%), generalised anxiety disorder (9.6%), harmful alcohol use (2.4%); dementia, somatoform disorder, phobia and delusional disorder each had a prevalence of 1.2%. Clinical and sociodemographic variables were not significantly associated with psychiatric morbidity.Conclusion
Psychiatric disorders are often associated with stroke. Identifying and treating stroke patients with these psychiatric co-morbidities could thus help to improve the overall quality of life of these patients. 相似文献8.
W. Schröder OA Dr. P. Mallmann H. van der Ven K. Diedrich D. Krebs 《Archives of gynecology and obstetrics》1990,248(2):67-74
Summary Using an indirect lymphokin-assay, the leucocyte-migration-inhibition-test (LMI-test), the cellular sensitization of fertile
and infertile patients before and after homologous and heterologous intrauterine insemination (IUI) was investigated. In this
assay several preparations of spermatozoa (“washed”-, “swim-up”- and “pellet”-spermatozoa) in different concentrations (1,
5 and 10×106 sperms/ml culture medium) and seminal plasma were tested as antigen. In all investigated groups a cellular immune response
against spermatic antigen was demonstrable and seemed to be dose dependent. In contrast to fertile women who reacted with
an enhancement of the macrophage migration for low concentrations the same concentration of antigen induced an inhibition
of macrophage migration in fertile patients. For high concentrations of spermatic antigens there was a difference in the intensity
of cell-mediated immune response between fertile and infertile women. Since infertile patients demonstrated an increased level
of cell-mediated immune response it is possible that infertility may be caused by this altered immunological reaction. This
response changes after multiple IUI-treatment and that change might be caused by the high concentration of spermatic antigens
as there was a difference in the intensity of cell-mediated immune response between fertile and infertile women. Since infertile
patients demonstrated an increased level of cell-mediated immune response it is possible that infertility may be caused by
this altered immunological reaction. This response changes after multiple IUI-treatment and that change might be caused by
the high concentration of spermatozoa. The immunological response of infertile patients seems to be similar in those receiving
husband and donor IUI. 相似文献
9.
OA Dr. Klaus Fellermann 《coloproctology》2004,26(4):249-257
10.
OA Dr. L. Faupel K. Kunze K. Rehm 《European journal of trauma and emergency surgery》1984,10(5):250-253
A relatively or absolutely too long ulna leads always to pain in the wrist, so that a compensation in length of both forearmbones is achieved by shortening osteotomy. The gradual ulna shortening osteotomy, the stylectomy and the resection of the caput ulnae with or without radius transposition osteotomy are available as shortening operation. In 17 patients of the Gießener Unfallchirurgischen Klinik we performed in 14 cases a shortening osteotomy of the ulna and in 3 cases a resection of the caput ulnae. The shortening osteotomy lead in all cases to a reduction of complaints and to an improvement of the mobility of the wrist. Due to frequent arthropathy the resection of the caput ulnae should be taken more often into consideration in older people. 相似文献