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81.
Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci 总被引:3,自引:0,他引:3
82.
Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase 总被引:5,自引:1,他引:5
Hahn CN; del Pilar Martin M; Schroder M; Vanier MT; Hara Y; Suzuki K; Suzuki K; d'Azzo A 《Human molecular genetics》1997,6(2):205-211
Human GM1-gangliosidosis is caused by a genetic deficiency of lysosomal
acid beta-galactosidase (beta-gal). The disease manifests itself either as
an infantile, juvenile or adult form and is primarily a neurological
disorder with progressive brain dysfunction. A mouse model lacking a
functional beta-gal gene has been generated by homologous recombination and
embryonic stem cell technology. Tissues from affected mice are devoid of
beta-gal mRNA and totally deficient in GM1-ganglioside- hydrolyzing
capacity. Storage material was already conspicuous in the brain at 3 weeks.
By 5 weeks, extensive storage of periodic acid Schiff- positive material
was observed in neurons throughout the brain and spinal cord. Consistent
with the neuropathology, abnormal accumulation of GM1-ganglioside in the
brain progressed from twice to almost five times the normal amount during
the period from 3 weeks to 3.5 months. Despite the accumulation of brain
GM1-ganglioside at the level equal to or exceeding that seen in gravely ill
human patients, these mice show no overt clinical phenotype up to 4-5
months. However, tremor, ataxia and abnormal gait become apparent in older
mice. Thus, the beta-gal- deficient mice appear to mimic closely the
pathological, biochemical and clinical abnormalities of the human disease.
相似文献
83.
84.
Juliana CN Chan 《Journal of diabetes investigation.》2011,2(1):1-5
In the past two decades, we have acquired an enormous amount of knowledge regarding the epidemiology, diagnosis, pathophysiology and treatment of type 2 diabetes and its comorbidities. In addition to the earlier landmark blood lipid and blood pressure lowering trials, the latest blood glucose lowering megatrials represent the zenith of this global effort to prevent and control diabetes, and its devastating consequences. Although many of these latter trials have yielded negative results and have shown the narrow risk‐benefit ratio of intensive treatment in patients with advanced disease, the exceedingly low event rates in these high‐risk patients who were carefully monitored and intensively managed made possible in these clinical trial settings have not been emphasized enough. The heterogeneity of the clinical outcomes in these studies further highlight the complexity of diabetes, which is more than managing a disease, but the multiple needs of a patient with multisystem dysfunction. In the final analysis, what transpires from these megatrials is the need to translate the key components of these studies, namely, protocol, team, documentation and monitoring, into our daily clinical practice to enable the care team to stratify risk, define needs, individualize therapy, monitor progress and reinforce compliance in order to achieve positive outcomes. (J Diabetes Invest, doi: 10.1111/j.2040‐1124.2010.00063.x, 2010) 相似文献
85.
Surg Cdr CN Chaudhari 《Medical Journal Armed Forces India》2011,67(1):34-37
Background: Thalassaemia major patients require lifelong transfusion support due to which they are prone for a1loimmunization to foreign RBCs. Alloimmunization can he prevented by extended phenotype match blood transfusion. The study was conducted to know the extent of problem of alloimmunization and to find important red cell antibodies in thalassaemia patients.Methods: A cross-sectional study was conducted. A total of 32 thalassaemia patients were enrolled. The specimen was subjected to red cell alloantibody and autoantibody by column gel agglutination technique. R1wR1R2R2, rr (papaine and non papain) and 11 cell panel reagent cells were used in screening and identification of alloantibodies respectively.Result: Six (18.8 %) subjects were alloimmunized. All alloimmunized subjects were recipient of more than 20 units of transfusion. Total seven clinically significant alloantibodies were identified. Anti E and anti c were commonest antibodies in four (12.5%) patients.Conclusion: Red cell alloimmunization is an important risk in thalassaemia patient. 71.4% of alloantibodies were anti E and anti c type. Extended phenotype match blood transfusion for Rh-c, and Rh-E antigens or level 2 antigen matching stringency needs to be explored in preventing alloimmunization in thalassaemia patients. 相似文献
86.
Zilkens C Djalali S Bittersohl B Kälicke T Kraft CN Krauspe R Jäger M 《European journal of medical research》2011,16(3):127-132
The aim of this study was to evaluate the initial acetabular implant stability and late acetabular implant migration in press fit cups combined with screw fixation of the acetabular component in order to answer the question whether screws are necessary for the fixation of the acetabular component in cementless primary total hip arthroplasty. One hundred and seven hips were available for follow-up after primary THA using a cementless, porous-coated acetabular component. A total of 631 standardized radiographs were analyzed digitally by the "single-film-x-ray-analysis" method (EBRA). One hundred and one (94.4 %) acetabular components did not show significant migration of more than 1 mm. Six (5.6%) implants showed migration of more than 1 mm. Statistical analysis did not reveal preoperative patterns that would identify predictors for future migration. Our findings suggest that the use of screw fixation for cementless porous-coated acetabular components for primary THA does not prevent cup migration. 相似文献
87.
88.
Methylene diphosphonate uptake in a case of vertebral hemangioma: demonstration with hybrid SPECT/CT
Bhoil A Mittal BR Harisankar CN Bhattacharya A Singh P Aggarwal S 《Clinical nuclear medicine》2011,36(7):e65-e66
Osseous hemangiomas are usually asymptomatic. Symptomatic hemangiomas are rare and represent approximately 1% of all cases. Hemangiomas usually present as photopenic defects in methylene diphosphonate (MDP) bone scintigraphy. MDP uptake in vertebral hemangiomas is extremely rare. We report a 20-year-old woman who presented with upper back pain. MDP bone scan showed focus of MDP uptake in the seventh dorsal vertebra. SPECT/CT localized the uptake to vertebral body and transverse process with CT findings suggestive of hemangioma. Further, MRI also confirmed hemangioma in the same location. 相似文献
89.
Medical education is increasingly laying emphasis on a curriculum based on cognitive, psychomotor, and affective domains of learning which were originally proposed nearly 50 years ago. These reforms are framed around best standards of care, error management and patient safety, patient autonomy, and resource allocation. There is a worldwide shift in the method of medical education towards experiential (‘hands-on’) medical learning; however, applying this concept to real patients is less acceptable to society and is subject to legal and ethical issues.Simulation is the artificial representation of a complex real-world process with sufficient fidelity with the aim to facilitate learning through immersion, reflection, feedback, and practice minus the risks inherent in a similar real-life experience. Medical simulation offers numerous potential strategies for comprehensive and practical training, and safer patient care. It is a technique, rather than just a technology that promotes experiential and reflective learning. It is also a key strategy to teach crisis resource management skills. Simulation can benefit the individual learner, the multidisciplinary team, and the hospital as a whole. In this review, the authors discuss the role of simulation in five situations namely undergraduate teaching, postgraduate training, continuing medical education, disaster management, and military trauma management and dwell upon the experience of medical simulation in the Armed Forces.Key Words: medical education, simulation 相似文献
90.
Background: Health care workers (HCWs) in Armed Forces are immunised against Hepatitis B virus (HBV), however they are not subjected to anti-HBs (antibody to Hepatitis B surface antigen) assessment after primary vaccination. The present study was undertaken to determine the protection offered by HBV vaccine in HCW. 相似文献