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1.
Hendrickx J; Dams E; Coucke P; Lee P; Fernandes J; Willems PJ 《Human molecular genetics》1996,5(5):649-652
X-linked liver glycogenosis type II (XLG II) is a recently described X-
linked liver glycogen storage disease, mainly characterized by enlarged
liver and growth retardation. These clinical symptoms are very similar to
those of XLG I. In contrast to XLG I patients, however, XLG II patients do
not show an in vitro enzymatic deficiency of phosphorylase kinase (PHK).
Recently, mutations were identified in the gene encoding the liver alpha
subunit of PHK (PHKA2) in XLG I patients. We have now studied the PHKA2
gene of four unrelated XLG II patients and identified four different
mutations in the open reading frame, including a deletion of three
nucleotides, an insertion of six nucleotides and two missense mutations.
These results indicate that XLG II is due to mutations in PHKA2. In
contrast to XLG I, XLG II is caused by mutations that lead to minor
structural abnormalities in the primary structure of the liver alpha
subunit of PHK. These mutations are found in a conserved RXX(X)T motif,
resembling known phosphorylation sites that might be involved in the
regulation of PHK. These findings might explain why the in vitro PHK
enzymatic activity is not deficient in XLG II, whereas it is in XLG I.
相似文献
2.
个体化下肢小腿假肢接受腔设计的生物力学评价技术研究 总被引:3,自引:0,他引:3
作为传递体重、固定假肢的部件 ,接受腔对于小腿假肢使用的舒适性和方便程度有决定性的作用。本研究建立了基于有限元应力分析的小腿假肢生物力学评价技术平台 ,实现了小腿残端 /接受腔 3D几何建模与信息交互、三维有限元自动建模及应力分析。 3D模型与信息交互的实现基于得到广泛支持的OpenGL技术 ,有限元模型的构建采用了专门针对小腿残端 /接受腔结构特点的自动建模方法 ,通过构建档案数据库系统作为整个系统的操作平台。该技术平台可与现有的CAD/CAM系统相结合 ,为接受腔的个体化设计提供生物力学定量化依据。其临床应用将改善传统的设计流程 ,提高设计效率。同时 ,它也是未来构建接受腔设计专家 /智能系统的基础。 相似文献
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María Jesús Fernández Aceñero MD PhD Cristina Díaz del Arco CDdA MD Carme Dinarés CD MD PhD Tania Labiano TL MD Eva Tejerina ET MD PhD Mª José Bernabé MJ B MD Elena Forcen EF MD Melchor Saiz-Pardo MSP MD Pablo Pérez PP MD Maria D. Lozano MDL MD PhD 《Diagnostic cytopathology》2023,51(1):26-35
Lung carcinoma remains one of the most frequent and aggressive human neoplasms. Fortunately, in the last decades, the increasing knowledge of the molecular mechanisms leading to cancer development has allowed the use of targeted therapies with improvement of prognosis in many patients. Clinical management has also changed after the introduction of endobronchialultrasonographic bronchoscopy that allows a conservative staging of lung tumors, avoiding the need of mediastinoscopy for lymph node staging. Lung pathologists and cytopathologists are facing the challenge of giving the more comprehensive prognostic and predictive information with ever smaller tissue or cytological samples. The aim of this review is to summarize the molecular testing for non-small cell lung carcinoma and how pathologists can contribute to the patient's outcome with a conscious management of biological samples. 相似文献
5.
碱离子水饮用后血小板聚集率的的变化(附30例报告) 总被引:1,自引:0,他引:1
目的:报告30例饮用豪斯牌碱离子水前、后血小板聚集率的变化。方法:饮用碱离子水前、后(2~3月,>3~6月)作比浊法血小板聚集试验,以1分钟、5分钟及5分钟内最大聚集率(Max%)为指标,同时检测部分血粘度指标及凝血因子,并用自动生化仪检测血糖、血脂、主要电解质及部分肝、肾功能。结果:饮碱离子水后,血小板聚集率明显下降,而以疾病组(Max>80%)下降尤为明显,P均<0.001。饮碱离子水后血小板聚集率的下降,部分可能与损伤的血管内皮得到修复有关。主要电解质及部分肝、肾功能无明显异常改变。结论:由于心、脑血管血栓性疾病患者血小板聚集率多明显升高,饮碱离子水后血小板聚集率明显下降,且长期饮用对主要电解质及部分肝、肾功能无明显异常改变,作者认为碱离子水使用方例、安全、有效、价廉,因而对心、脑血管血栓性疾病防治方面可能是一种积极的辅助方法,值得临床进一步探索。 相似文献
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Objective : Acute abdominal pain is a common problem in childhood, and appendicitis is frequently diagnosed by general practitioners and doctors working in emergency departments. The objective of the present report was to determine the frequency of appendicitis in a group of children with acute abdominal pain presenting to the emergency department of a general hospital, as well as attempting to analyse the manner in which these patients were managed.
Methodology : The initial assessment in hospital (by resident hospital staff) of the study group of patients was analysed and their subsequent clinical progress documented.
Results : The present report shows that the vast majority of children with acute abdominal pain do not have appendicitis and that appendicitis is significantly over-diagnosed by junior hospital doctors.
Conclusions : Appendicitis is a clinical diagnosis, best made by an experienced member of the paediatric surgical team. Frequent review, with a minimum of investigations, provides the best means of making a rational decision regarding surgery. 相似文献
Methodology : The initial assessment in hospital (by resident hospital staff) of the study group of patients was analysed and their subsequent clinical progress documented.
Results : The present report shows that the vast majority of children with acute abdominal pain do not have appendicitis and that appendicitis is significantly over-diagnosed by junior hospital doctors.
Conclusions : Appendicitis is a clinical diagnosis, best made by an experienced member of the paediatric surgical team. Frequent review, with a minimum of investigations, provides the best means of making a rational decision regarding surgery. 相似文献
9.
Vansteenkiste J Vandebroek J Nackaerts K Dooms C Galdermans D Bosquée L Delobbe A Deschepper K Van Kerckhoven W Vandeurzen K Deman R D'Odemont JP Siemons L Van den Brande P Dams N;Leuven Lung Cancer Group 《Lung cancer (Amsterdam, Netherlands)》2003,40(2):191-199
BACKGROUND: We previously reported that treatment of patients with symptomatic advanced non-small cell lung cancer with single agent Gemcitabine (GEM) resulted in a superior clinical-benefit response rate (RR) compared to cisplatin-based combination chemotherapy. We now report the detailed individual symptom control analysis, and the influence of cisplatin-use, age, performance status (PS) and duration of treatment. PATIENTS AND METHODS: Patients received either GEM (1000 mg/m(2), days 1, 8 and 15) or cisplatin (100 mg/m(2), day 1) plus Vindesine (3 mg/m(2), days 1 and 15) (PV), both every 4 weeks. Scores of 9 symptoms were listed weekly by the patient on visual analogue scales. Improvement of a symptom was defined as 2 consecutive cycles of improvement over baseline. RESULTS: Baseline symptoms in the 169 patients were well balanced between the 2 arms (84 GEM, 85 PV). Both patients with objective response and disease stabilisation had clearly better symptom control than those with disease progression. Symptom control in both arms was similar for 'disease-specific' symptoms such as cough, dyspnea, pain or haemoptysis. Compared to PV, a significantly larger number of GEM-patients had better scores for 'constitutional' items such as anorexia (P=0.007), ability to carry on with daily activities (P=0.04) and overall impression of quality-of-life (P=0.008). Symptom control was very similar in younger (<65 years) versus older (>/=65 years) patients, and only slightly better in those with a Karnofsky PS >/=80% compared to those <80%. Most of the symptom improvement occurred in the first 3 cycles, with some further symptom improvement in the following cycles in the GEM-arm only. CONCLUSIONS: Both GEM and PV yield a symptom control rate much higher than expected by the objective tumour RR. GEM is equally effective in controlling 'disease-specific' symptoms, but superior in controlling 'constitutional' symptoms. Most of the symptom control was achieved during the first 3 cycles of treatment, with some further improvement thereafter in the GEM-arm only. 相似文献
10.
E Dams 《Acta neurologica Belgica》1986,86(4):233-242
Serum and cerebrospinal fluid (CSF) proteins in multiple sclerosis (MS) and subacute sclerosing panencephalitis (SSPE) were fractionated by means of two dimensional polyacrylamide gel electrophoresis. At the same time, separations of serum and CSF proteins of control cases were made. Some major differences were observed between the patterns obtained for MS serum and those obtained for normal and SSPE serum: for MS serum one extra specific group of proteins was located in the more acidic area of the gel. In the case of CSF protein separations, MS and SSPE showed common features remarkably different from normal: the disappearance of a specific CSF 38,000 dalton group of proteins and the fractionation of proteins into many discrete spots in the chi and lambda light chain region after two dimensional electrophoresis. The latter correlates with the presence of oligoclonal immunoglobulins in the CSF. In addition, in SSPE CSF, there appear 4 to 5 proteins which cannot be detected elsewhere (nor in normal CSF nor in CSF from various neurological diseases). Identification of these proteins has not yet been made. 相似文献