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991.
Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? 总被引:1,自引:0,他引:1
Moog U van Mierlo I van Schrojenstein Lantman-de Valk HM Spaapen L Maaskant MA Curfs LM 《American journal of medical genetics. Part C, Seminars in medical genetics》2007,(3):293-301
Sanfilippo type B is an autosomal recessive mucopolysaccharidosis (MPS IIIB) caused by deficiency of N-acetyl-alpha-D-glucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulfate. It is characterized by neurologic degeneration, behavioral problems, and mental decline. Somatic features are relatively mild and patients with this disorder can reach late adulthood. It is the most common subtype of MPS in the Netherlands and probably underdiagnosed in adult persons with mental retardation (MR). In order to increase knowledge on the adult phenotype and natural history in Sanfilippo type B, we present the clinical data of 20 patients with this disorder. Sixteen of them were followed for one to three decades. Six died between 28 and 69 years of age, mainly from pneumonia and cachexia; the surviving patients were 18-63 years old. Apart from the youngest, they had lost mobility at 36-68 years. Most had developed physical problems, in particular in the 4th-6th decade of life: cardiac disease (cardiomyopathy, atrial fibrillations), arthritis, skin blistering, swallowing difficulties requiring feeding by a gastrostomy tube, and seizures. The course of the disease was dominated in most of them by challenging behavioral problems with restlessness, extreme screaming and hitting, difficult to prevent or to treat pharmaceutically. Even in absence of knowledge of the history of an elderly patient with MR, the presence of behavioral problems should prompt metabolic investigation for MPS. 相似文献
992.
T-cell recognition of Paracoccidioides brasiliensis gp43-derived peptides in patients with paracoccidioidomycosis and healthy individuals
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Iwai LK Yoshida M Sadahiro A da Silva WR Marin ML Goldberg AC Juliano MA Juliano L Shikanai-Yasuda MA Kalil J Cunha-Neto E Travassos LR 《Clinical and Vaccine Immunology : CVI》2007,14(4):474-476
Vaccines with synthetic peptides induce the immune response to epitopes that bind to several HLA alleles. By using a TEPITOPE algorithm, we selected and analyzed the T-cell responses of peripheral blood mononuclear cells from 29 paracoccidioidomycosis (PCM) patients to peptides of the immunodominant gp43 antigen of Paracoccidioides brasiliensis, the causative agent of PCM. 相似文献
993.
Alebić-Juretić A Cvitas T Kezele N Klasinc L Pehnec G Sorgo G 《Bulletin of environmental contamination and toxicology》2007,79(4):468-471
In August 2003 Croatia experienced a heat-wave period during which elevated concentrations of particulate matter (PM10) and
ozone in ambient air were measured. By applying the model of Stedman and Rooney et al., it was shown that a significant part
of excess mortality during this period can be attributed to PM10 and ozone in ambient air. 相似文献
994.
995.
de Swart RL van den Hoogen BG Kuiken T Herfst S van Amerongen G Yüksel S Sprong L Osterhaus AD 《Vaccine》2007,25(51):8518-8528
Human metapneumovirus (hMPV), a member of the family Paramyxoviridae, is an important cause of acute respiratory tract disease. In the 1960s, vaccination with formalin-inactivated paramyxovirus preparations--respiratory syncytial virus (RSV) and measles virus (MV)--resulted in predisposition for enhanced disease upon natural infection. We have produced a formalin-inactivated hMPV preparation (FI-hMPV), which was used to immunize young cynomolgus macaques. Six days after challenge FI-hMPV-primed monkeys had developed eosinophilic bronchitis and bronchiolitis, indicative of a hypersensitivity response. This study indicates that formalin-inactivated hMPV vaccines have the same propensity to predispose for immune-mediated disease as inactivated RSV and MV vaccines. 相似文献
996.
Streefland M van de Waterbeemd B Happé H van der Pol LA Beuvery EC Tramper J Martens DE 《Vaccine》2007,25(16):2994-3000
Since variation in process time and process output is commonly accepted to be inevitable for biological processes, application of Process Analytical Technologies (PAT) on these processes is challenging. In this paper the applicability of PAT on the cultivation of Bordetella pertussis bacteria as part of the manufacture of a vaccine against whooping cough disease is investigated. Scrutinizing and eliminating the most prominent sources of variance make the cultivation process step highly reproducible. Furthermore, the use of DNA microarrays allows investigation of how disturbances influence cellular physiology and product quality. Marker genes for product quality were identified, providing the means to quantitatively assess product quality, which is hardly possible using the mandatory animal tests for product quality. The tools and results described in this paper, combined with suitable on line measurements, can make full PAT application for this process step possible. Ultimately, the process can be designed and controlled towards consistent end product quality. 相似文献
997.
Sher L 《International journal of adolescent medicine and health》2007,19(1):11-18
Functional MRI of the brain is a technique that localizes regions of activity in the brain following task activation. It is useful to neuroscientists interested in interrogating the localization of certain brain functions. Alcohol misuse is a complex, multidimensional disorder involving problematic ethanol ingestion and reflected in behavior. Genetic factors play an important role in the etiopathogenesis of alcohol abuse in adolescents. Alcohol use disorders tend to run in families with 40-60% of the variance of risk explained by genetic influences. Numerous well-designed twin, adoption, and family studies have demonstrated that genetic factors are important in determining vulnerability to alcohol use disorders. There is a tendency for people who misuse alcohol to marry individuals who also abuse alcohol (assortative mating). Thus, many adolescent alcohol misusers are from families with a high proportion of alcohol abuse or dependence. It has been shown that alcohol abusing adolescents have a number of cognitive deficits. Neuropsychological studies of adolescents with alcohol use disorders have reported decrements in language skills, problem solving, verbal and non-verbal retention, working memory, and visuospatial performance. Some cognitive deficits may be present before an adolescent starts drinking and contribute to the development of alcohol use disorders. Data suggest that neuropsychological dysfunction may play a role in determining risk for suicidal acts. Therefore, studies of cognitive impairments and the neural substrate of these impairments in alcohol abusing adolescents may help develop methods of identifying teenagers who are at increased risk for suicide and contribute to our knowledge of the neurobiology of suicidal behavior and may lead to the development of new treatment methods. 相似文献
998.
999.
Rangaraj M. Rangayyan Shormistha Prajna Fábio J. Ayres J. E. Leo Desautels 《International journal of computer assisted radiology and surgery》2008,2(6):347-361
Objective Mammography is a widely used screening tool for the early detection of breast cancer. One of the commonly missed signs of
breast cancer is architectural distortion. The purpose of this study is to explore the application of fractal analysis and
texture measures for the detection of architectural distortion in screening mammograms taken prior to the detection of breast
cancer.
Materials and methods A method based on Gabor filters and phase portrait analysis was used to detect initial candidates for sites of architectural
distortion. A total of 386 regions of interest (ROIs) were automatically obtained from 14 “prior mammograms”, including 21
ROIs related to architectural distortion. From the corresponding set of 14 “detection mammograms”, 398 ROIs were obtained,
including 18 related to breast cancer. For each ROI, the fractal dimension and Haralick’s texture features were computed.
The fractal dimension of the ROIs was calculated using the circular average power spectrum technique.
Results The average fractal dimension of the normal (false-positive) ROIs was significantly higher than that of the ROIs with architectural
distortion (p = 0.006). For the “prior mammograms”, the best receiver operating characteristics (ROC) performance achieved, in terms
of the area under the ROC curve, was 0.80 with a Bayesian classifier using four features including fractal dimension, entropy,
sum entropy, and inverse difference moment. Analysis of the performance of the methods with free-response receiver operating
characteristics indicated a sensitivity of 0.79 at 8.4 false positives per image in the detection of sites of architectural
distortion in the “prior mammograms”.
Conclusion Fractal dimension offers a promising way to detect the presence of architectural distortion in prior mammograms. 相似文献
1000.
Annet J Dallmeijer Vincent de Groot Leo D Roorda Vera P M Schepers Eline Lindeman Leonard H van den Berg Anita Beelen Joost Dekker 《Journal of rehabilitation medicine》2007,39(2):163-169
OBJECTIVE: The aim of this study was to investigate unidimensionality and differential item functioning of the SF-36 physical functioning scale (PF10) in patients with various neurological disorders. Patients: Patients post-stroke (n = 198), with multiple sclerosis (n = 151) and amyotrophic lateral sclerosis (n = 193) participated. METHODS: Unidimensionality of the PF10 within the patient groups was investigated by performing a separate Rasch analysis for each group. Differential item functioning was investigated in a pooled Rasch analysis of the 3 groups. RESULTS: Within each group, all items fitted the Rasch model, except the "bathing/dressing" item in the amyotrophic lateral sclerosis group. The pooled analysis showed inadequate fit to the Rasch model for one item ("walking several hundred metres"). Of the other 9 fitting items, 5 showed differential item functioning for stroke vs multiple sclerosis and amyotrophic lateral sclerosis, while no differential item functioning was found between multiple sclerosis and amyotrophic lateral sclerosis. CONCLUSION: All items of the PF10, except one for the amyotrophic lateral sclerosis group, form a unidimensional scale, supporting the use of a sum score as a measure of physical functioning within these diagnostic groups. When comparing the data of patients after stroke, with that of patients with multiple sclerosis and/or amyotrophic lateral sclerosis patients, adjustments for differential item functioning are required. 相似文献