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排序方式: 共有338条查询结果,搜索用时 31 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.
OBJECTIVES: Normal lung function has been shown to be population specific. The aim of this study was to derive normal reference spirometric values for Omani children and adolescents. METHODOLOGY: Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV(1)), peak expiratory flow and forced mid-expiratory flow were measured in 837 healthy Omani school children aged 6-19 years. Multiple linear regression analysis was performed for each spirometric parameter against age, height and weight for boys and girls separately. RESULTS: All measured spirometric parameters increased with age and height and were significantly higher in boys than girls. Height explained the maximum variance for all parameters. After accounting for height in the prediction equations, the contribution of age and weight was minimal. The expiratory ratio (FEV(1)%FVC) was independent of age and height and its mean values (+/- standard deviation) were slightly higher in girls (91.1 +/- 6.1%) than boys (86.5 +/- 7.1%; P < 0.001). The predicted normal values of the subjects using the derived equations were between 5 and 10% lower than the respective values for subjects in Caucasian sample groups. CONCLUSION: The developed prediction equations can be used in clinical practice in Oman and can be considered for use in neighbouring Arab countries. 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.
The alveolar-capillary membrane diffusing capacity and the pulmonary capillary blood volume in heart transplant candidates 总被引:1,自引:0,他引:1
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Al-Rawas OA Carter R Stevenson RD Naik SK Wheatley DJ 《Heart (British Cardiac Society)》2000,83(2):156-160
OBJECTIVES: To determine the mechanism of impairment of pulmonary transfer factor for carbon monoxide (TL(CO)) in heart transplant candidates, as this is the most common lung function abnormality. SETTING: Regional cardiopulmonary transplant centre. METHODS: TL(CO) and its components (the diffusing capacity of the alveolar-capillary membrane (D(M)) and the pulmonary capillary blood volume (V(C))) were measured using the Roughton and Forster method and the single breath technique in 38 patients with severe chronic heart failure awaiting heart transplantation (mean age 51 years, range 19 to 61; mean left ventricular ejection fraction 12.8%). Results were compared with data from 26 normal subjects (mean age 47 years, range 27 to 62). RESULTS: Mean per cent predicted TL(CO), D(M), and V(C) were significantly reduced in patients (69.9%, 81.4%, and 80.2% of predicted, respectively) compared with controls (97.7%, 100.1%, and 102.3% of predicted, respectively, p < 0.001). The relative contribution of the two components of TL(CO) in patients was similar to that of normal subjects, with each component accounting for approximately 50% of the total resistance to diffusion (1/TL(CO)). CONCLUSIONS: TL(CO) impairment in patients with severe chronic heart failure awaiting heart transplantation results from a proportionate reduction in both D(M) and V(C), suggesting a significant disturbance of the pulmonary vascular bed. 相似文献
9.
Raya Saab MD Anas Obeid MD Fatiha Gachi MD Houda Boudiaf MD Lilit Sargsyan MD Khulood Al-Saad MD Tamar Javakhadze MD Azim Mehrvar MD Sawsan Sati Abbas MD Yasir Saadoon Abed Al-Agele MD Salma Al-Haddad MD Mouroge Hashim Al Ani MD Suleiman Al-Sweedan MD Amani Al Kofide MD Wasil Jastaniah MD Nisreen Khalifa MD Elie Bechara MD Malek Baassiri MD Peter Noun MD Jamila El-Houdzi MD Mohammed Khattab MD Krishna Sagar Sharma MD Yasser Wali MD Naureen Mushtaq MD Aliya Batool MD Mahwish Faizan MD Muhammad Rafie Raza MD Mohammad Najajreh MD Mohammed Awad Mohammed Abdallah MD Ghada Sousan MD Khaled M. Ghanem MD Ulker Kocak MD Tezer Kutluk MD Hacı Ahmet Demir MD Hamoud Hodeish MD Samar Muwakkit MD Asim Belgaumi MD Abdul-Hakim Al-Rawas MD Sima Jeha MD 《Cancer》2020,126(18):4235-4245
10.
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