Keep it simple: comparing functional assessments in individuals with Down syndrome.

BACKGROUND: A number of assessments exist that evaluate function in ambulatory adults. However, these assessments take for granted the cognitive abilities required for the participant to understand what is being asked of them in order to demonstrate their functional abilities. It has been shown that individuals with Down syndrome (DS) demonstrate lower functional levels when asked to perform additional tasks while walking. Therefore, measurements of function may not be reflective of actual function if the assessment requires additional tasks in those with DS. It is for these reasons the current investigation sought to evaluate four common functional assessments, two with [modified Berg balance test (mBERG) and Functional Gait Assessment (FGA)] and two without [Timed Up and Go (TUG) and Established Populations for Epidemiologic Study in the Elderly (EPESE)] complex tasks. METHODS: Adults with DS (n = 19) completed four functional assessments, which were later compared using bivariate Pearson correlation coefficients. RESULTS: There were large associations between simple assessments (TUG-EPESE: r = -0.525, P = 0.021) and complex assessments (FGA-mBERG: r = 0.612, P = 0.005), respectively. The TUG also inversely correlated with the FGA (r = -0.476, P = 0.039), and the EPESE had a large association with mBERG (r = 0.508, P = 0.027). CONCLUSIONS: The mBERG may be the best test to replicate real-world scenarios through its tasks, although it may also be confounded by the cognitive load required to perform the movements as asked. The TUG and EPESE may be more appropriate as mobility assessments because they require very little cognitive attention when completing the tasks. True assessments of mobility ought to err on the side of simple so to not confuse the outcomes with executive functionality.

A comparison of the physical demands associated with various right-angle direct-current power tools.

This work examined the physical demands associated with 4 commercially available direct current right-angle power tools along with their computer controlled fastening strategies. Physical demands were measured via an external instrumented handle that could also control the trigger of each tool. Data revealed that forces recorded by the external handle for each of the 4 tools differed. Independent of Joint-Hardness and Target Torque the Atlas Copco TurboTight® and Cleco Low Torque Reaction fastening strategies, both using a rapid spindle-head rotation strategy, produced the lowest peak and impulse force, respectfully, when compared to the 2 tools that were designed to fasten with a longer duration. This work has shown that short duration fastening strategies provide an ergonomics benefit to the users as it requires less force to operate, such force reduction in previous research has been linked to reduced handle displacement and lower muscle effort.

Physical demands associated with right-angle direct-current power-tools: An evaluation of current technology.

The purpose of this work was to evaluate the physical demands associated with three direct current powered right-angle power tool tightening strategies at various fastener-location-orientations, target torques and joint-hardness. Physical demands were measured using surface electromyography, handle force and upper body kinematics. Results identified TurboTight®, a rapid and short duration fastening strategy, to produce lower handle force impulse, less joint angle displacement, and lower EMG magnitudes when compared to the longer duration fastening strategies tested. The reduced magnitudes associated with TurboTight®, independent of fastener-location-orientations, target torques and joint-hardness, indicate a lower physical demand on power tool operators, providing a significant ergonomic benefit when compared to the slower fastening strategies.

Prostate Specific Membrane Antigen Positron Emission Tomography May Improve the Diagnostic Accuracy of Multiparametric Magnetic Resonance Imaging in Localized Prostate Cancer.

PURPOSE: Positron emission tomography using ligands targeting prostate specific membrane antigen has recently been introduced. Positron emission tomography imaging with (68)Ga-PSMA-HBED-CC has been shown to detect metastatic prostate cancer lesions at a high rate. In this study we compare multiparametric magnetic resonance imaging and prostate specific membrane antigen positron emission tomography of the prostate with whole mount ex vivo prostate histopathology to determine the true sensitivity and specificity of these imaging modalities for detecting and locating tumor foci within the prostate. MATERIALS AND METHODS: In a prospective clinical trial setting 20 patients with localized prostate cancer and a planned radical prostatectomy were recruited. All patients underwent multiparametric magnetic resonance imaging and positron emission tomography before surgery, and whole mount histopathology slides were directly compared to the images. European Society of Urogenital Radiology guidelines for reporting magnetic resonance imaging were used as a template for regional units of analysis. The uropathologist and radiologists were blinded to individual components of the study, and the final correlation was performed by visual and deformable registration analysis. RESULTS: A total of 50 clinically significant lesions were identified from the whole mount histopathological analysis. Based on regional analysis the sensitivity, specificity, positive predictive value and negative predictive value for multiparametric magnetic resonance imaging were 44%, 94%, 81% and 76%, respectively. With prostate specific membrane antigen positron emission tomography the sensitivity, specificity, positive predictive value and negative predictive value were 49%, 95%, 85% and 88%, respectively. Prostate specific membrane antigen positron emission tomography yielded a higher specificity and positive predictive value. CONCLUSIONS: A significant proportion of cancers are potentially missed and underestimated by both imaging modalities. Prostate specific membrane antigen positron emission tomography may be used in addition to multiparametric magnetic resonance imaging to help improve local staging in those patients undergoing retropubic radical prostatectomy.

A standardized method for measuring the force required to join wire harnesses and sparkplugs.

Understanding the forces required to insert a sparkplug wire (wire) onto a sparkplug (plug), independent of worker variation, is important for ergonomists, engineers, and designers. This paper describes a methodology for measuring the forces required to seat a wire onto a plug. A three-axis programmable mill was used to insert wires onto plugs mounted on a force transducer. Inflection points and slopes of the force-displacement curves were found to correspond to mechanical events as the plug and wire were joined. These events were further isolated by dissecting the wires to better understand the force contribution of each wire component. Liner superposition was then used to show that each of these force elements may be added to estimate the total force required to seat a wire onto a plug. This methodology may be used to quantify the effects of design choices, lubricants (wet and dry), and pre-working on axial insertion forces associated with sparkplugs and other insertions. This paper does not address worker abilities or variation, however, the methodology and equipment described may provide a foundation for the exploration of worker ability, variation and work techniques.

Use of water-based foam to depopulate ducks and other species.

Current control strategies for avian influenza virus, exotic Newcastle disease, and other highly virulent poultry diseases often include surveillance, quarantine, depopulation, disposal, and disinfection. On-farm depopulation and disposal methods reduce potential movement of virus and improve biosecurity. Water-based foam depopulation was developed as a potential alternative mass emergency poultry depopulation procedure. The use of water-based foam is conditionally approved by the USDA Animal and Plant Health Inspection Service for use with floor-reared birds. This study reports on the use of water-based foam to depopulate other species including call ducks, chukars, Pekin ducks, and Japanese quail. Foam caused a rapid onset of airway occlusion. Although all species tested were depopulated with water-based foam, the time to cessation of activity varied by species, with quail being faster than chukars, broilers, and ducks.

Application of in-house mortality composting on viral inactivity of Newcastle disease virus.

This paper summarizes the results from 3 simulated in-house catastrophic mortality composting experiments. Experiment 1 evaluated the impact of water-based foam mass depopulation on in-house composting of the carcasses and litter and showed that water-based foam improved windrow temperatures. Experiment 2 evaluated the impact of freezing samples on virus recovery from windrow compost tissue and the choice of tissue for virus sampling within the bird. Experiment 2 documented that freezing the samples had minimal impact on processing and that virus recovery was more consistent among inoculated breast meat than inoculated tracheas. Experiment 3 evaluated the impact of sawdust, straw, and sawdust-straw base layer litter material on in-house mortality composting. All litter materials were able to reach and maintain temperatures in excess of 60 degrees C for multiple days. No viral hemagglutination activity was observed after d 2 during any of the 3 experiments.

Foam-based mass emergency depopulation of floor-reared meat-type poultry operations.

Current control strategies for avian influenza and other highly contagious poultry diseases often include quarantine, depopulation, and disposal of infected birds. For biosecurity reasons, on-farm depopulation and disposal methods are preferred. The options for mass depopulation are limited, as reported by the "2000 Report of the AVMA Panel on Euthanasia." Current depopulation techniques may have excessive labor requirements, are not appropriate for all house types, and may not be suitable for large-scale emergency implementation. A procedure has been developed that uses foam to rapidly form a blanket over the birds. The procedure requires relatively few people, can be performed in a variety of house types, and is compatible with in-house composting. Results from 2 experiments using foam for depopulation are presented in this paper. These studies have shown that foams are comparable to the CO(2) polyethylene tent procedure in time to death in small groups and that the foam is faster as group size increases. Adding CO(2) to the foam does not enhance its efficacy. Based on corticosterone levels, the study also showed that the foams are no more stressful than the CO(2) depopulation method. Necropsy and histological examination of birds indicated that blood was present to some degree in the trachea, syrinx, and bronchial tree in broilers subjected to foam with CO(2), foam without CO(2), and CO(2) polyethylene tent methods of depopulation. Foam caused a rapid onset of airway occlusion. In both foam- and CO(2)-euthanized broilers, lesions are consistent with anoxia or hypoxia. This suggests that foam acts by physically induced hypoxia, whereas CO(2) causes chemically induced hypoxia.

Quick tests for the determination of ammonia in poultry litter.

The objective of this work was to test the ability of various available quick tests to determine ammonia concentration of poultry litters. A total of 136 samples was collected from brood chambers of poultry houses. Samples were equally divided between surface samples (top 25 mm) and core samples. Samples were frozen until analysis but received no further processing. Samples were analyzed for ammonia by autoanalyzer (standard) and several quick tests (conductivity, Quantofix N-Volumeter, and Reflectoquant). In addition, samples were analyzed by near-infrared spectroscopy by scanning samples using a large-sample transport device on a FOSS-NIRSystems model 6500 (64 co-added scans from 400 to 2,498 nm). Results showed that, although ammonia could be determined with reasonable accuracy by near-infrared spectroscopy using data in the 1,100 to 2,498 nm spectral range (final calibration R2 of approximately 0.90), none of the quick tests, including near-infrared, worked as well as previously found with dairy manures. The best results were found using the Quantofix or Reflectoquant (R2 of approximately 0.75), and conductivity worked only with the core samples (R2 of approximately 0.75). It is believed that interferences due to the presence of uric acid (spectroscopy, Quantofix, and Reflectoquant) and sodium bisulfate used to treat the litter (conductivity) were the cause of the decreased accuracies as compared to results achieved previously with dairy manures.

Pro-patient partnerships.

The degree to which nurses and physicians collaborate greatly impacts patient care. These elements of effective partnerships and strategies can help you achieve mutual benefits.

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.

BACKGROUND: The pancreatic lesions of cystic fibrosis develop in utero and closely resemble those of chronic pancreatitis. Therefore, we hypothesized that mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene may be more common than expected among patients with chronic pancreatitis. METHODS: We studied 134 consecutive patients with chronic pancreatitis (alcohol-related disease in 71, hyperparathyroidism in 2, hypertriglyceridemia in 1, and idiopathic disease in 60). We examined DNA for 22 mutations of the CFTR gene that together account for 95 percent of all mutations in patients with cystic fibrosis in the northwest of England. We also determined the length of the noncoding sequence of thymidines in intron 8, since the shorter the sequence, the lower the proportion of normal CFTR messenger RNA. RESULTS: The 94 male and 40 female patients ranged in age from 16 to 86 years. None had a mutation on both copies of the CFTR gene. Eighteen patients (13.4 percent), including 12 without alcoholism, had a CFTR mutation on one chromosome, as compared with a frequency of 5.3 percent among 600 local unrelated partners of persons with a family history of cystic fibrosis (P<0.001). A total of 10.4 percent of the patients had the 5T allele in intron 8 (14 of 134), which is twice the expected frequency (P=0.008). Four patients were heterozygous for both a CFTR mutation and the 5T allele. Patients with a CFTR mutation were younger than those with no mutations (P=0.03). None had the combination of sinopulmonary disease, high sweat electrolyte concentrations, and low nasal potential-difference values that are diagnostic of cystic fibrosis. CONCLUSIONS: Mutations of the CFTR gene and the 5T genotype are associated with chronic pancreatitis.

The mutation status of PAX3 and p53 genes in medulloblastoma.

The p53 and PAX3 genes were examined by PCR, SSCP and DNA sequencing methods in 50 and 58 paraffinembedded medullablastoma tissues, respectively. Four novel mutations were identified among these samples in exon 5 of the p53 gene. Two tumours showed a G to A transition. One heterozygous mutation was located on codon 158 which changed the encoded amino acid from Arg (CGC) to His (CAC). Another was located on codon 174 and replaced AGG (Arg) with AAG (Lys). There was a single base deletion of guanine located on codon 160 in another two samples, causing a frameshift. This is the first study of mutation status of PAX gene in medulloblastoma wherein only one polymorphism was identified in the gene. The polymorphism changed codon 43 from GGC to GGT but both encoded glycine.

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

We analysed DNA samples from 26 Pakistani patients with cystic fibrosis (CF) living in the United Kingdom (14 from patients residing in the north west of England, who were referred directly to the North West Regional Molecular Genetics Laboratory, and 12 from other regional molecular genetics laboratories). Of 56 mutations seen in native U.K. CF patients, only DeltaF508, R709X, and 2184insA were detected in the Pakistani patients. Combined SSCP/Heteroduplex analysis, DGGE, and direct DNA cycle sequencing revealed five novel mutations: Y569D, Q98X, 296+12(T>C), 1161delC, and 621+2(T>C), which appear to be specific to Pakistani CF families. In addition, a novel polymorphism, 297-67(A/C), and three previously described rare mutations, 1525-1(G>A), R560S, and 1898+1(G>T), were detected. In the 14 Pakistani CF patients from the north west of England, DeltaF508 accounted for approximately 32% (9/28 chromosomes) and the overall detection rate of CF mutations in this group was approximately 86% (24/28 chromosomes).

Cystic fibrosis mutations in Romania.

UNLABELLED: We have investigated the genotype in 32 children with cystic fibrosis from Romania. The diagnosis of cystic fibrosis was made on the basis of typical clinical findings and sweat electrolyte levels using the pilocarpine iontophoresis method. CONCLUSION: Genetic analysis of 32 children with cystic fibrosis from Romania showed a 25% incidence of DeltaF508 mutation and a 64.5% incidence of unknown mutations, 5 other known mutations and 1 new mutation 1,717-2(A > G).

Methods for screening in cystic fibrosis.

Cystic fibrosis (CF) is the most common lethal autosomal recessive disorder in Whites, with an incidence of approx 1 m 2500 live births and a carrier frequency of approx 1 in 25. Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene m 1989 (1-3), molecular genetics laboratories throughout the world have endeavored to identify the mutations present in their population of CF-bearing chromosomes. Since the entire CFTR gene and its intron-exon boundaries have been sequenced, mutation analysis in CF has become relatively simple, although time consuming. Generally, a number of different methods are applied to mutation analysis, but all involve an imtial step of amplification of part of the gene by polymerase chain reaction (PCR) (4), or a derivative of it, such as amplification refractory mutation system (ARMS) (5).

Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.

We have collated the results of cystic fibrosis (CF) mutation analysis conducted in 22 laboratories in the United Kingdom. A total of 9,807 CF chromosomes have been analysed, demonstrating 56 different mutations so far observed and accounting for 86% of CF genes in the native Caucasian population of the United Kingdom. delta F508 is the most common at 75.3% of CF mutations (range 56.5-83.7%), followed by G551D (3.08%; range 0.71-7.60%), G542X (1.68%; range 0.85-3.66%), 621 + 1 (G > T) (0.93%; range 0.41-3.16%), 1717-1(G > A) (0.57%; range 0.17-1.14%), 1898 + 1)(G > A) (0.46%), R117H (0.46%), N1303K (0.46%), and R553X (0.46%). The data show a clear geographical variation in the distribution of some of the mutations, most notably a marked regional variation in the distribution of 621 + 1 (G > T) and 1989 + 1(G > A), which are both apparently more frequent in Wales. R560T and R117H appear to be more frequent in Ireland and Scotland, and G551D more frequent in Scotland. In summary, these data illustrate that the mutations present within a particular population need to be defined in order to provide meaningful carrier screening and testing for rare mutations in affected individuals. Furthermore, it is apparent that the ethnic origin of a patient, even within a small country such as the United Kingdom, should be taken into account.