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71.
Thomas Patrick S. Jr; Fraley Gregory S.; Damian Vincent; Woodke Lillie B.; Zapata Francisco; Sopher Bryce L.; Plymate Stephen R.; La Spada Albert R. 《Human molecular genetics》2006,15(19):2972
Human Molecular 相似文献
72.
Albert H Park Jonathan Warner Nanette Sturgill Stephen C Alder 《Otolaryngology--head and neck surgery》2006,134(5):794-800
OBJECTIVE: Assess parental perceptions of their child's sensorineural hearing loss care. METHODS: Families of pediatric patients diagnosed with a sensorineural hearing loss from 2000 to 2004 were sent a survey asking about their experiences with their child's hearing loss. RESULTS: One hundred eight of 389 families surveyed were studied. Thirteen percent did not know the results of the newborn screening. Twenty-two percent of the primary care physicians were not involved in the child's hearing evaluation. Forty percent of the patients underwent 4 or more audiologic tests before a diagnosis. The most common reason for delayed diagnosis was difficulty in obtaining an appointment with an audiologist. Sixty-two percent of families had difficulties obtaining hearing aids, and 58% noted difficulties obtaining cochlear implants. CONCLUSIONS: Families reported multiple obstacles to obtain timely diagnosis and treatment. Otolaryngologists may need to be more involved in the evaluation and treatment of these patients. EBM rating: C-4. 相似文献
73.
Abdulbaqi Al-Toma Marije S Goerres Jos W R Meijer B Mary E von Blomberg Peter J Wahab Jo A M Kerckhaert Chris J J Mulder 《Clinical gastroenterology and hepatology》2006,4(11):1322-7; quiz 1300
BACKGROUND & AIMS: Refractory celiac disease (RCD) may be subdivided into RCD types I and II with phenotypically normal and aberrant intraepithelial T-cell populations, respectively. In RCD II, transition into enteropathy-associated T-cell lymphoma (EATL) is seen frequently. We have evaluated the effect of cladribine (2-CDA), a purine analogue inducing T-cell depletion, on clinical, histopathologic, and immunologic parameters, as well as the toxicity and side effects in a group of RCD II patients. METHODS: Between 2000 and 2005, 17 patients were included (8 men, 9 women). All patients had a clonal rearrangement of the T-cell receptor gamma gene and immunophenotyping showed an aberrant T-cell population lacking surface expression of CD3, CD8, and T-cell receptor alphabeta, in the presence of expression of surface CD103 and intracytoplasmic CD3. Treatment consisted of 2-CDA (0.1 mg/kg/day) intravenously for 5 days, given in 1-3 courses every 6 months depending on the response. RESULTS: All patients tolerated 2-CDA without serious side effects. Six patients (35.8%) showed a clinical improvement (weight gain, improvement of diarrhea, and hypoalbuminemia). In 10 patients (58.8%) a significant histologic improvement and in 6 patients (35.2%) a significant decrease in aberrant T cells was seen. Seven patients (41.1%) developed EATL and died subsequently. One patient died of progressive refractory state with emaciation. CONCLUSIONS: Treatment with 2-CDA in RCD II is feasible, well tolerated, and can induce clinical and histologic improvement as well as a significant decrease of aberrant T cells in a subgroup of patients, albeit it does not prevent EATL development. However, the earlier reported potential risk of precipitating an overt lymphoma should be taken into consideration. 相似文献
74.
Assessment of global and regional left ventricular function and volumes with 64-slice MSCT: a comparison with 2D echocardiography. 总被引:5,自引:0,他引:5
Maureen M Henneman Joanne D Schuijf J Wouter Jukema Eduard R Holman Hildo J Lamb Albert de Roos Ernst E van der Wall Jeroen J Bax 《Journal of nuclear cardiology》2006,13(4):480-487
BACKGROUND: In patients with coronary artery disease (CAD), LV function and volumes are important parameters for long-term prognosis. Multislice computed tomography (MSCT) allows noninvasive assessment of the coronary arteries, but the accuracy of 64-slice MSCT for the assessment of left ventricular (LV) volumes and function is unknown. METHODS AND RESULTS: A head-to-head comparison between 64-slice MSCT and 2-dimensional (2D) echocardiography was performed in 40 patients with known or suspected CAD. The LV end-diastolic volume (LVEDV) and LV end-systolic volume (LVESV) were determined and the LV ejection fraction (LVEF) was derived. Regional wall motion was assessed visually using a 17-segment model. A 3-point scoring system was used to assign to each segment a wall motion score: 1 = normokinesia, 2 = hypokinesia, 3 = akinesia or dyskinesia. Two-dimensional echocardiography served as the gold standard. MSCT agreed well with 2D echocardiography for assessment of LVEDV (r = 0.97; p < .0001) and LVESV (r = 0.98; p < .0001). An excellent correlation between MSCT and 2D echocardiography was shown for the evaluation of LVEF (r = 0.91; p < .0001). Agreement for the assessment of regional wall motion was excellent (96%, kappa = 0.82). CONCLUSIONS: An accurate assessment of global and regional LV function and volumes is feasible with 64-slice MSCT. 相似文献
75.
Kerry B Goralski Philip D Acott Albert D Fraser David Worth Christopher J Sinal 《Drug metabolism and disposition》2006,34(2):288-295
Cyclosporin A (CyA) toxicity is a common occurrence in pediatric organ transplant patients. We hypothesized that reduced mdr1a expression in newborn and developing mice would affect CyA accumulation within organs and/or toxicity. For functional studies, CyA was administered (5 mg kg(-1) i.p.) to 1-, 12-, and 19-day, and adult male and female mdr1a+/+ and mdr1a-/- mice. Peak blood CyA was lower in 1-, 12-, and 19-day-old (1000 ng ml(-1)) versus adult (1500 ng ml(-1)) mice but was similar in mdr1a+/+ and mdr1a-/- mice. Kidney mdr1a expression (measured by quantitative polymerase chain reaction) increased 2.5-fold in 19-day-old male and female mice and increased another 4-fold in adult females compared with adult males. Liver mdr1a expression increased 6-fold by day 12 compared with neonatal mice. Thereafter, maintenance of hepatic mdr1a expression in females and a reduction to neonatal levels in males was observed. Kidney/blood (8- to 9-fold) and liver/blood (12- to 15-fold) CyA levels were highest on days 12 and 19 and were not dependent on maturational changes in mdr1a mRNA levels. Adults had higher brain expression of mdr1a mRNA (3-fold), a corresponding 5-fold increase in immunodetectable P-glycoprotein, and 80% lower brain accumulation of CyA compared with 1-day-old mice. Conversely, in mdr1a-null mice, brain/blood CyA was similar in newborn and adult mice. A similar pattern was observed for the brain accumulation of the mdr1a substrate 3H-digoxin. We conclude that the risk for central nervous system drug toxicity could be higher in neonates or young children as a consequence of underdeveloped P-glycoprotein. 相似文献
76.
T Sandor M Albert J Stafford S Harpley 《AJNR. American journal of neuroradiology》1988,9(6):1181-1187
A newly developed computerized technique was used to analyze the CT scans of 49 patients with dementia of the Alzheimer type and 31 normal control subjects. Nine brain regions distributed across five CT slices were evaluated for each individual. For the purpose of analysis, the patients and controls were divided into an exploratory set and a test set. Several discriminant functions were conducted on the exploratory set and applied to the test set. The combination of variables that focused on regions in the temporal lobe was most accurate in differentiating Alzheimer patients from controls (94%). This degree of accuracy was achieved only when subjects younger than 65 years old were analyzed separately from those 65 years old and older. The newly developed computer software program was able to discriminate between independently selected groups of Alzheimer patients and control subjects. The program was most effective when the analysis emphasized regions in the temporal lobe and when subjects younger than 65 years old were analyzed separately from those 65 years old and older. 相似文献
77.
J Albert L Franzén M Jansson G Scarlatti P K Kataaha E Katabira F Mubiro M Ryd?ker P Rossi U Pettersson 《Virology》1992,190(2):674-681
The third variable (V3) loop of the human immunodeficiency virus type 1 (HIV-1) envelope protein is an important determinant for virus neutralization and cell tropism. V3 loop sequences from uncultured lymphocytes obtained in 1990 from 22 Ugandan HIV-1-infected patients could, with the exception of two patients' sequences, be divided into two groups (A and B) on the basis the V3 loop size and sequence. The V3 loop consensus sequences from both groups showed a high degree of homology to a U.S./European consensus, a characteristic also reflected by the results of peptide serology. In the case of group B the difference in sequence was only five amino acids. In contrast, the V3-flanking regions for both groups showed greater homology to an earlier (1986/1987) Ugandan consensus. The discovery of these two new Ugandan V3 loop genotypes, which are closely related to the U.S./European consensus, has implications for the understanding of the evolution of HIV-1 and for the future design of a vaccine for use in Africa. 相似文献
78.
N. F. Wieringa A. H. R. de Meijer M. D. B. Schutjens R. Vos 《Social science & medicine (1982)》1992,35(12):1497-1504
The market of non-registered pharmaceutical products is growing fast in number and overall costs, not only in the Netherlands, but also in other European countries. These products often give the impression that the consumer may expect 'an effect as from a drug'. Legally, there is a clear distinction between 'drugs' and 'commodities' in the Netherlands; the question is whether legislation and practice concur. In an investigation we analysed texts of advertisements for non-registered pharmaceutical products published in a popular magazine. A method was developed, based on the legal definition of a drug and jurisprudence, to determine in a qualitative and quantitative way the application of medicinal claims. It transpired that in 65% of the analysed advertisements explicit or implicit claims were made. These products should therefore be subject to drugs legislation. Thus, in the Netherlands there is a gap between legislation and practice in advertising non-registered pharmaceutical products. 相似文献
79.
Peter Rasmussen Ellen A Dawson Lars Nybo Johannes J van Lieshout Niels H Secher Albert Gjedde 《Journal of cerebral blood flow and metabolism》2007,27(5):1082-1093
Brain function requires oxygen and maintenance of brain capillary oxygenation is important. We evaluated how faithfully frontal lobe near-infrared spectroscopy (NIRS) follows haemoglobin saturation (SCap) and how calculated mitochondrial oxygen tension (PMitoO2) influences motor performance. Twelve healthy subjects (20 to 29 years), supine and seated, inhaled O2 air-mixtures (10% to 100%) with and without added 5% carbon dioxide and during hyperventilation. Two measures of frontal lobe oxygenation by NIRS (NIRO-200 and INVOS) were compared with capillary oxygen saturation (SCap) as calculated from the O2 content of brachial arterial and right internal jugular venous blood. At control SCap (78%+/-4%; mean+/-s.d.) was halfway between the arterial (98%+/-1%) and jugular venous oxygenation (SvO2; 61%+/-6%). Both NIRS devices monitored SCap (P<0.001) within approximately 5% as SvO2 increased from 39%+/-5% to 79%+/-7% with an increase in the transcranial ultrasound Doppler determined middle cerebral artery flow velocity from 29+/-8 to 65+/-15 cm/sec. When SCap fell below approximately 70% with reduced flow and inspired oxygen tension, PMitoO2 decreased (P<0.001) and brain lactate release increased concomitantly (P<0.001). Handgrip strength correlated with the measured (NIRS) and calculated capillary oxygenation values as well as with PMitoO2 (r>0.74; P<0.05). These results show that NIRS is an adequate cerebral capillary-oxygenation-level-dependent (COLD) measure during manipulation of cerebral blood flow or inspired oxygen tension, or both, and suggest that motor performance correlates with the frontal lobe COLD signal. 相似文献
80.
Yang-Sheng Tzeng Eric Hoffman Janice Cook-Granroth Rie Maurer Niral Shah Joey Mansour Juerg Tschirren Mitchell Albert 《Magnetic resonance in medicine》2007,58(3):636-642
An anthropomorphic airway tree phantom was imaged with both hyperpolarized (HP) 3He MRI using a dynamic projection scan and computed tomography (CT). Airway diameter measurements from the HP 3He MR images obtained using a newly developed model-based algorithm were compared against their corresponding CT values quantified with a well-established method. Of the 45 airway segments that could be evaluated with CT, only 14 airway segments (31%) could be evaluated using HP 3He MRI. No airway segments smaller than approximately 4 mm in diameter and distal to the fourth generation were adequate for analysis in MRI. For the 14 airway segments measured, only two airway segments yielded a non-equivalent comparison between the two imaging modalities, while eight more had inconclusive comparison results, leaving only four airway segments (29%) that satisfied the designed equivalence criteria. Some of the potential problems in airway diameter quantification described in the formulation of the model-based algorithm were observed in this study. These results suggest that dynamic projection HP 3He MRI may have limited utility for measuring airway segment diameters, particularly those of the central airways. 相似文献