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1.
Localized 1H NMR spectra of glutamate in the human brain. 总被引:2,自引:0,他引:2
D L Rothman C C Hanstock O A Petroff E J Novotny J W Prichard R G Shulman 《Magnetic resonance in medicine》1992,25(1):94-106
Localized 1H NMR spectra at TE = 12 ms were obtained from cerebral cortex of human subjects using ISIS with surface suppression. The 2.29-ppm resonance was assigned to C4 glutamate with contributions from C4 glutamine and GABA using in vivo spectral editing and comparison of chemical shift with pure compounds. The measured intensity ratio between the 2.29 resonance and the creatine resonance at 3.03 ppm was in good agreement with the ratio predicted from previously reported measurements of glutamate, glutamine, and GABA concentrations in biopsied human brain tissue. 相似文献
2.
Oscillatory motion of the normal cervical spinal cord 总被引:2,自引:0,他引:2
3.
4.
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
5.
The clinical and radiological evolution of the glenoid socket in total shoulder arthroplasty is well documented, whereas evaluation of the humeral component has received much less attention. The outcome of 40 humeral replacements performed in 39 patients was studied with a minimum follow-up of one year. There were 26 Neer prostheses, 9 Modular Shoulder prostheses and 5 Aequalis prostheses. Twenty-nine prostheses were implanted with cement and 11 were cementless. The clinical and radiological results were assessed according to the scoring system used for the 1994 symposium of SO.F.C.O.T. X rays in the coronal plane were used to assess the position of the stem, radiolucencies around the humeral component and the percentage of the cross-section of the diaphysis filled by the humeral stem. The average follow-up period was respectively 55.6 months for the Neer prostheses, 17.9 months for the Modular Shoulder prostheses and 12.4 months for the Aequalis prostheses. Radiolucent lines were noted in 20 cases, all with uncemented humeral components. Two prostheses were loose; however, none required revision. The underlying pathology, surgical approach, position of the humeral component, implant design or association with glenoid resurfacing were not correlated with the presence of radiolucent lines or with a loose implant. Cementless fixation was the only parameter statistically related with the presence of radiolucent lines. This report confirms the good results obtained with cemented humeral prostheses. Radiological evaluation of the smooth cementless humeral implant showed many progressive radiolucent lines, without clinical expression. The authors analyze the various studies in the literature and discuss the interest of cementless implants with ingrowth surface. 相似文献
6.
Effect of genetic modification of acute inflammatory responsiveness on tumorigenesis in the mouse 总被引:1,自引:3,他引:1
7.
John T. Petroff II Ankita Isor Satyanarayana M. Chintala Carolyn J. Albert Jacob D. Franke David Weinstein Sara M. Omlid Christopher K. Arnatt David A. Ford Ryan D. McCulla 《RSC advances》2020,10(44):26553
A beneficial property of photogenerated reactive oxygen species (ROS) is the capability of oxidant generation within a specific location or organelle inside a cell. Dibenzothiophene S-oxide (DBTO), which is known to undergo a photodeoxygenation reaction to generate ground state atomic oxygen [O(3P)] upon irradiation, was functionalized to afford localization within the plasma membrane of cells. The photochemistry, as it relates to oxidant generation, was studied and demonstrated that the functionalized DBTO derivatives generated O(3P). Irradiation of these lipophilic O(3P)-precursors in the presence of LDL and within RAW 264.7 cells afforded several oxidized lipid products (oxLP) in the form of aldehydes. The generation of a 2-hexadecenal (2-HDEA) was markedly increased in irradiations where O(3P) was putatively produced. The substantial generation of 2-HDEA is not known to accompany the production of other ROS. These cellular irradiation experiments demonstrate the potential of inducing oxidation with O(3P) in cells.Lipophilic O(3P)-precursors generate 2-hexadecenal upon UV-irradiation. 相似文献
8.
9.
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10.
Impact of controlled attenuation parameter on detecting fibrosis using liver stiffness measurement 下载免费PDF全文
T. Karlas D. Petroff M. Sasso J.‐G. Fan Y.‐Q. Mi V. de Lédinghen M. Kumar M. Lupsor‐Platon K.‐H. Han A. C. Cardoso G. Ferraioli W.‐K. Chan V. W.‐S. Wong R. P. Myers K. Chayama M. Friedrich‐Rust M. Beaugrand F. Shen J.‐B. Hiriart S. K. Sarin R. Badea H. W. Lee P. Marcellin C. Filice S. Mahadeva G. L.‐H. Wong P. Crotty K. Masaki J. Bojunga P. Bedossa V. Keim J. Wiegand 《Alimentary pharmacology & therapeutics》2018,47(7):989-1000