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91.
BackgroundSmell sense is impaired in classic Parkinson's disease (PD). An initial study found no change in taste threshold in non-demented PD subjects and pathological studies suggest that the first relay for taste, the nucleus of the solitary tract, is spared. We wished to determine if taste is abnormal in PD and whether it is associated with smell dysfunction.MethodsTaste threshold was estimated using the Rion electrogustometer and olfaction by the University of Pennsylvania Smell Identification Test (UPSIT) in 75 non-demented PD patients and 74 controls.ResultsThere was a significant impairment of taste threshold and severe disorder of smell identification in the PD group. Age, duration of symptoms, disability, and smoking had no important effect on threshold measurement and there was no correlation between taste and smell dysfunction. Sensitivity analysis suggested that a provisional diagnosis of PD would be confirmed if smell or taste were abnormal; conversely, the diagnosis would merit review if both modalities were normal.ConclusionsImpaired taste appreciation was found in about 27% of patients with clinically defined PD. There were no important effects from age, disease severity or smell sense. Given the sparing of the first and second order taste neurones in PD, disorder of taste in PD most likely signifies involvement of the frontal operculum or orbitofrontal cortex, in keeping with advanced disease, although confounding by drug effects and changes in salivary constitution could not be excluded completely.  相似文献   
92.
Low albumin levels have been associated with HIV progression. The objective of this analysis was to confirm this association and to further examine the effect of albumin before and after HIV seroconversion on disease progression. The association was first examined among individuals already infected with HIV at entry into a community-based cohort (n = 453) and further assessed among HIV seroconverters with albumin concentrations measured after (n = 219) and before seroconversion (n = 138). The prognostic effect of albumin on AIDS, AIDS mortality, and all-cause mortality was examined using Cox regression. Among 453 HIV-infected individuals, albumin <35 g/liter was associated with faster progression to AIDS [adjusted relative hazard (ARH), 1.8; 95% confidence interval (CI), 1.2-2.8], AIDS mortality (ARH, 2.2; 95% CI, 1.3-3.8), and all-cause mortality (ARH, 2.4; 95% CI, 1.6-3.5). Analyses restricted to HIV seroconverters were similar. Preseroconversion levels of albumin did not predict outcomes, but HIV seroconversion appeared to lower albumin levels. These data show that albumin <35 g/liter after HIV seroconversion is associated with faster HIV disease progression and suggest that low albumin levels are probably a consequence of HIV infection rather than merely reflective of some individuals inherently having low albumin levels.  相似文献   
93.

Objective

We present our 9-year experience of stimulated EMG potential analysis using concentric electrodes (SPACE) to evaluate neuromuscular junction (NMJ) disorders in awake children. The technique uses high frequency filtration of stimulated motor unit potentials and applies peak detection software to estimate mean consecutive difference (MCD).

Methods

SPACE was carried out in orbicularis oculi of 878 children (377 girls; median age 47 months) between 2007 and 2015, stimulating the facial nerve with a monopolar cathode. Mean MCD-index (MCD-I) was expressed as a ratio of the measured MCD to the upper normal limit. Diagnostic accuracy was calculated for primary NMJ disorders based on the 660 cases with clinical follow-up data.

Results

Primary NMJ disorders were present in 106 children, including 46 with genetically confirmed congenital myasthenic syndrome (CMS). Mean MCD-I was two times higher in children with primary NMJ disorders compared to others (205 ± 108 μs vs 94 ± 38 μs, p < 0.005). After excluding children with neuronopathies, an MCD-I >100% had 84% sensitivity and 74% specificity for the primary NMJ disorders. Receiver operating characteristics (ROC) curve identified an MCD-I >115% as providing best diagnostic accuracy with sensitivity of 77% and specificity of 84%.

Conclusion

SPACE is practicable and safe in unsedated children.

Significance

In combination with routine EMG, it has high diagnostic accuracy and can facilitate recognition of paediatric NMJ transmission disorders.  相似文献   
94.
Objective: Comparison of clinical practice guideline (CPG) recommendations and reported physician management of gastro‐enteritis at Paediatric Research in Emergency Departments International Collaborative (PREDICT) network sites as a baseline for further randomised controlled trials. Methods: Two part survey comprising: (i) review of CPGs from PREDICT sites for gastro‐enteritis; and (ii) survey of senior emergency department physicians regarding the management of gastro‐enteritis. Results: All 11 PREDICT sites participated. Nine CPGs were available with three sites using a common CPG. For moderate dehydration, eight CPGs advocated nasogastric (NG) rehydration in preference to intravenous (IV) rehydration. The IV route was reserved for severe dehydration or failed NG rehydration. In the second component of the survey, 78 of 83 (94%) physicians responded. In moderate dehydration, 82% of respondents used NG rehydration. In severe dehydration, 86% used IV fluids; 12% used NG and 3% an initial IV bolus followed by NG fluid. Serum electrolytes were measured universally with IV fluid use and by 22% using NG rehydration. The IV fluid bolus was with normal saline (86%). Fifty‐four per cent used anti‐emetics ‘rarely’ or ‘sometimes’. The commonest agents were ondansetron (60%) and metoclopramide (29%). Conclusions: CPG recommendations and physician practice for the management of gastro‐enteritis were similar across PREDICT sites with a focus on NG for moderate dehydration and IV for severe dehydration. A variety of fluids and administration rates were used. Anti‐emetics were used infrequently. The efficacy and safety of newer anti‐emetics should be explored in collaborative studies. Collaborative development of new CPGs should be considered to simplify fluid regimens.  相似文献   
95.
96.
BACKGROUND: Bone marrow micrometastases are present in a high proportion of patients undergoing curative resection for esophagogastric cancer. The incorporation of preoperative systemic therapies into these patients' treatment is widely practiced. This study investigates the effect of neoadjuvant chemoradiotherapy (CRT) on the incidence of micrometastases and the viability of detected tumor cells. MATERIALS AND METHODS: Rib bone marrow was obtained from patients (n = 106) in three centers, who were selected for potentially curative resection. Patients received neoadjuvant CRT plus surgery (n = 55), or surgery alone (n = 51). To detect micrometastases, mononuclear cells were isolated from fresh marrow and immediately stained immunohistochemically with an anti-cytokeratin-18 antibody using the APAAP technique. Tumor cell viability was assessed by immunohistochemical staining of marrow cell cultures for cytokeratin-positive cells. RESULTS: Micrometastases were detected in fresh marrow in 42% (23/55) of patients who received neoadjuvant CRT plus surgery, and in 67% (34/51) of patients treated with surgery alone. Viable tumor cells were demonstrated in 10 of 18 marrow cultures from CRT plus surgery cases. In this patient subset, combination of results of staining fresh and cultured marrow significantly increased micromet detection to 78%. CONCLUSIONS: A significant proportion of patients with esophagogastric cancer have disseminated viable tumor cells at time of surgery, irrespective of pre-operative treatment. The use of marrow culture in parallel with fresh marrow staining may increase the detection of micrometastases. The persistence of tumor cells resistant to systemic therapy may explain why these regimens fail in a majority of patients.  相似文献   
97.
The aim of this qualitative study was to gain an understanding of what people who use wheeled mobility devices (WMDs; e.g., manual and power wheelchairs, and scooters) identify as environmental barriers to community participation in cold weather climates, and to explore recommendations to overcome environmental barriers to community participation. Researchers conducted an online asynchronous focus group that spanned seven days, with eight individuals who use WMDs. Each day, participants were asked to respond to a moderator-provided question, and to engage with one another around the topic area. The researchers analyzed the verbatim data using an inductive content-analysis approach. Four categories emerged from the data: (1) winter barriers to community participation; (2) life resumes in spring and summer; (3) change requires awareness, education, and advocacy; and (4) winter participation is a right. Participants confirmed that it is a collective responsibility to ensure that WMD users are able to participate in the community throughout the seasons.  相似文献   
98.
Retinitis pigmentosa (RP) is a group of genetically and clinicallyheterogeneous retinopathies, some of which have been shown toresult from mutations in two different known retinal genes,rhodopsin (3q) and peripherin-rds (6p). Three additional anonymousloci at 7p, 7q and pericentric 8 have been implicated by linkagestudies. There are still, however, a few families in which allknown loci have been excluded. In this report we present dataindicating a location, on the short arm of chromosome 17, forthe autosomal dominant RP (ADRP) locus in a large South African(SA) family of British ancestry. Positive two-point lod scoreshave been obtained for nine markers (D17S938, Z = 5.43; D17S796,Z = 4.82; D17S849, Z = 3.6; D17S786, Z = 3.55; TP53, Z = 3.55;D17S578, Z = 3.29; D17S960, Z = 3.16; D17S926, Z = 1.51; D17S804,Z = 0.47 all at   相似文献   
99.
100.
BACKGROUND: Although there is a high incidence of tendon injury as a result of participation in physical activity, the mechanisms responsible for such injuries are poorly understood. Investigators have suggested that some people may have a genetic predisposition to develop tendon injuries; in particular, genes on the tip of the long arm of chromosome 9 might, at least in part, be associated with this condition. The tenascin-C gene, which has been mapped to chromosome 9q32-q34, encodes for a structural component of tendons. HYPOTHESIS: The tenascin-C gene is associated with Achilles tendon injury. STUDY DESIGN: Case control study; Level of evidence, 3. METHODS: A total of 114 physically active white subjects with symptoms of Achilles tendon injury and 127 asymptomatic, physically active white control subjects were genotyped for the guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene. RESULTS: A significant difference in the allele frequencies of this polymorphism existed between the 2 groups of subjects (chi(2) = 51.0, P = .001). The frequencies of the alleles containing 12 repeats (symptomatic group, 18.9% vs control group, 10.2%) and 14 repeats (symptomatic group, 9.2% vs control group, 0.8%) were significantly higher in the symptomatic group, while the frequencies of the alleles containing 13 repeats (symptomatic group, 8.8% vs control group, 24.0%) and 17 repeats (symptomatic group, 7.5% vs control group, 20.1%) were significantly lower in this same group. Subjects who were homozygous or heterozygous for the underrepresented alleles (13 and 17 repeats) but who did not possess an overrepresented allele (12 and 14 repeats) may have a lower risk of developing Achilles tendon injuries (odds ratio, 6.2; 95% confidence interval, 3.5-11.0; P < .001). CONCLUSIONS: The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with Achilles tendon injury. Alleles containing 12 and 14 guanine-thymine repeats were overrepresented in subjects with tendon injuries, while the alleles containing 13 and 17 repeats were underrepresented. CLINICAL RELEVANCE: Persons who have variants of the tenascin-C gene with 12 and 14 guanine-thymine repeats appear to have a 6-fold risk of developing Achilles tendon injuries.  相似文献   
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