scholarly journals Genetic variation in the quantitative levels of an NADP (H)-binding protein (FX) in human erythrocytes

Blood ◽  
1981 ◽  
Vol 57 (2) ◽  
pp. 209-217
Author(s):  
L Lenzerini ◽  
U Benatti ◽  
A Morelli ◽  
S Pontremoli ◽  
A De Flora ◽  
...  

FX is a red cell NADP(H)-binding protein that has been well defined biochemically and immunologically but whose function is still unknown. Preliminary data indicated that the levels of this protein are significantly increased in hemizygotes, heterozygotes, and homozygotes for the G6PD Mediterranean mutant, thus raising the question of whether or not the individual variation in FX levels is more or less directly influenced by X-linked genes. The present study, based on a large series of population and family data collected in Sardinia, confirms unequivocally the above mentioned interaction, but shows at the same time that the variances in FX levels “between sibships” are 2–3 times larger than those “within sibships,” when the analysis is done separately for the G6PD-normal or the G6PD-deficient sibs. From the comparison of the interclass and intraclass correlation coefficients, it appears that about 60% of the total variation of FX is of genetic origin. Moreover, the FX levels of children, analyzed in a pairwise manner, were found to be more positively correlated with those of their fathers (r = 0.39) than with those of their maternal grandfathers (0.20). This latter finding obviously favors the conclusion that “autosomal”; rather than “X-linked” genes are involved in the determination of the FX levels.

Blood ◽  
1981 ◽  
Vol 57 (2) ◽  
pp. 209-217 ◽  
Author(s):  
L Lenzerini ◽  
U Benatti ◽  
A Morelli ◽  
S Pontremoli ◽  
A De Flora ◽  
...  

Abstract FX is a red cell NADP(H)-binding protein that has been well defined biochemically and immunologically but whose function is still unknown. Preliminary data indicated that the levels of this protein are significantly increased in hemizygotes, heterozygotes, and homozygotes for the G6PD Mediterranean mutant, thus raising the question of whether or not the individual variation in FX levels is more or less directly influenced by X-linked genes. The present study, based on a large series of population and family data collected in Sardinia, confirms unequivocally the above mentioned interaction, but shows at the same time that the variances in FX levels “between sibships” are 2–3 times larger than those “within sibships,” when the analysis is done separately for the G6PD-normal or the G6PD-deficient sibs. From the comparison of the interclass and intraclass correlation coefficients, it appears that about 60% of the total variation of FX is of genetic origin. Moreover, the FX levels of children, analyzed in a pairwise manner, were found to be more positively correlated with those of their fathers (r = 0.39) than with those of their maternal grandfathers (0.20). This latter finding obviously favors the conclusion that “autosomal”; rather than “X-linked” genes are involved in the determination of the FX levels.


2019 ◽  
Vol 14 (9) ◽  
pp. 1200-1204
Author(s):  
Thomas M. Comyns ◽  
Eamonn P. Flanagan ◽  
Sean Fleming ◽  
Evan Fitzgerald ◽  
Damian J. Harper

Purpose: To examine the interday reliability and usefulness of a reactive strength index (RSI) derived from a maximal 5-rebound jump test (5max RJT) and a maximal 10-rebound jump test (10/5 RJT). Methods: Twenty male field-sport athletes (24.5 [3.0] y, 1.78 [0.1] m, 84.9 [5.2] kg) and 15 female participants (21.1 [0.9] y, 1.65 [0.73] m, 62.0 [5.1] kg) performed 2 maximal repetitions of the 5max RJT and the 10/5 RJT on 2 testing days after a specific warm-up. A 1-wk period separated testing days, and these sessions were preceded by a familiarization session. RSI was calculated by dividing jump height (in meters) by contact time (in seconds). The 5max RJT and the 10/5 RJT trial with the highest RSI on each testing day were used for reliability and usefulness analysis. Results: Both tests were deemed reliable for determining RSI for male, female, and pooled male and female cohorts, as the intraclass correlation coefficients were ≥.80 and the coefficient of variation was ≤10%. Only the 5max RJT was rated as “good” at detecting the smallest worthwhile change in performance for female athletes (smallest worthwhile change: 0.10 > typical error: 0.07). The 5max RJT for men and the 10/5 RJT for men and women were rated “good” in detecting a moderate change in performance only. Conclusions: Both tests are reliable for the determination of RSI, but the usefulness of the tests in detecting the smallest worthwhile change is questionable.


1989 ◽  
Vol 9 (5) ◽  
pp. 259-272 ◽  
Author(s):  
Jane Case-Smith

The Posture and Fine Motor Assessment of Infants (PFMAI) (Case-Smith, 1987) is a newly developed instrument for assessing the quality of motor function in infants. The test measures components of posture and fine motor control as they first develop. The purpose of this study was to support the test's reliability and validity. Interrater reliability, analyzed with intraclass correlation coefficients (ICCs), was high (.989 for total scores). Test-retest reliability, measured by ICCs, was .853 and .913 for the two test sections. The PFMAI demonstrated concurrent validity with the Peabody Developmental Motor Scales, Revised (Folio & Fewell, 1983) (correlations were .673 and .829 for the individual sections). Scores on the PFMAI were highly correlated with the infant's ages (.892 to .941); this finding provided one indication of construct validity.


2006 ◽  
Vol 43 (2) ◽  
pp. 129-137 ◽  
Author(s):  
Emeka Nkenke ◽  
Bernhard Lehner ◽  
Manuel Kramer ◽  
Gerd Haeusler ◽  
Stefanie Benz ◽  
...  

Objective To assess measurement errors of a novel technique for the three-dimensional determination of the degree of facial symmetry in patients suffering from unilateral cleft lip and palate malformations. Design Technical report, reliability study. Setting Cleft Lip and Palate Center of the University of Erlangen-Nuremberg, Erlangen, Germany. Patients The three-dimensional facial surface data of five 10-year-old unilateral cleft lip and palate patients were subjected to the analysis. Distances, angles, surface areas, and volumes were assessed twice. Main Outcome Measures Calculations were made for method error, intraclass correlation coefficient, and repeatability of the measurements of distances, angles, surface areas, and volumes. Results The method errors were less than 1 mm for distances and less than 1.5° for angles. The intraclass correlation coefficients showed values greater than .90 for all parameters. The repeatability values were comparable for cleft and noncleft sides. Conclusion The small method errors, high intraclass correlation coefficients, and comparable repeatability values for cleft and noncleft sides reveal that the new technique is appropriate for clinical use.


2021 ◽  
Vol 77 (2) ◽  
Author(s):  
Burçin Akçay ◽  
Tuğba Kuru Çolak ◽  
Adnan Apti ◽  
İlker Çolak ◽  
Önder Kızıltaş

Background: In pattern-specific scoliosis exercises and bracing, the corrective treatment plan differs according to different curve patterns. There are a limited number of studies investigating the reliability of the commonly used classifications systems.Objective: To test the reliability of the augmented Lehnert-Schroth (ALS) classification and the Rigo classification.Methods: X-rays and posterior photographs of 45 patients with scoliosis were sent by the first author to three clinicians twice at 1-week intervals. The clinicians classified images according to the ALS and Rigo classifications, and the data were analysed using SPSS V-16. Intraclass correlation coefficients (ICCs) and standard error measurement (SEM) were calculated to evaluate the inter- and intra-observer reliability.Results: The inter-observer ICC values were 0.552 (ALS), 0.452 (Rigo) for X-ray images and 0.494 (ALS), 0.518 (Rigo) for the photographs. The average intra-observer ICC value was 0.720 (ALS), 0.581 (Rigo) for the X-ray images and 0.726 (ALS) and 0.467 (Rigo) for the photographs.Conclusions: The results of our study indicate moderate inter-observer reliability for X-ray images using the ALS classification and clinical photographs using the Rigo classification. Intra-observer reliability was moderate to good for X-ray images and clinical photographs using the ALS classification and poor to moderate for X-ray and clinical photographs using the Rigo classification.Clinical implications: Pattern classifications assist in creating a plan and indication of correction in specific scoliosis physiotherapy and pattern-specific brace applications and surgical treatment. More sub-types are needed to address the individual patterns of curvature. The optimisation of curve classification will likely reduce failures in diagnosis and treatment.


2004 ◽  
Vol 53 (1-6) ◽  
pp. 141-148 ◽  
Author(s):  
M. R. Lesser ◽  
W. H. Parker

Abstract Ecologically based management of white spruce (Picea glauca [Moench] Voss.) requires an understanding of its patterns of adaptive variation. This understanding will become increasingly important under changing climate conditions. Five common garden tests and a greenhouse trial established in 2002 across Ontario were used to assess levels of genetic variation and relate this variation to local climate. Growth and phenological variables, including height, root collar diameter, survival, timing of spring budflush, and timing of fall budset were measured. Intraclass correlation coefficients were calculated for all traits to determine levels of genetic variation. Simple linear regressions were used to relate these differences to local climate conditions. After two growing season’s levels of between-provenance genetic variation ranged from 0 percent for several of the budflush variables to 22 percent for 2003 survival at the Englehart field trial. Overall, growth variables showed higher levels of between-provenance variation than phenological variables. Variation was predominately explained by longitude, a surrogate for precipitation patterns in Ontario, and temperature variables related to the growing season with r2 values ranging from 0.03 to 0.55. Generally, patterns of adaptive variation followed a southeast to northwest trend across Ontario. Northern sources flushed earlier and set bud earlier, while southern sources demonstrated superior growth. Results support previous white spruce genecology studies showing superior growth of sources from the Ottawa valley region of Ontario and Quebec.


2019 ◽  
Vol 2 (3) ◽  
pp. 37
Author(s):  
Claus Sixtus Jensen

Background: Paediatric early warning score (PEWS) assessment tools can assist healthcare providers in the timely detection and recognition of subtle patient condition changes signalling clinical deterioration. However, PEWS tools instrument data are only as reliable and accurate as the caregivers who obtain and document the parameters. The aim of this study is to evaluate inter-rater reliability among nurses using PEWS systems.  Method: The study was carried out in five paediatrics departments in the Central Denmark Region. Inter-rater reliability was investigated through parallel observations. A total of 108 children and 69 nurses participated. Two nurses simultaneously performed a PEWS assessment on the same patient. Before the assessment, the two participating nurses drew lots to decide who would be the active observer. Intraclass correlation coefficient, Fleiss’ κand Bland–Altman limits of agreement were used to determine inter-rater reliability. Results: The intraclass correlation coefficients for the aggregated PEWS score of the two PEWS models were 0.98 and 0.95, respectively. The κvalue on the individual PEWS measurements ranged from 0.70 to 1.0, indicating good to very good agreement. The nurses assigned the exact same aggregated score for both PEWS models in 76% of the cases. In 98% of the PEWS assessments, the aggregated PEWS scores assigned by the nurses were equal to or below 1 point in both models. Conclusion: The study showed good to very good interrater reliability in the two PEWS models used in the Central Denmark Region.


Sensors ◽  
2021 ◽  
Vol 21 (23) ◽  
pp. 7954
Author(s):  
Antoine Langeard ◽  
Charlotte Mathon ◽  
Mourad Ould-Slimane ◽  
Leslie Decker ◽  
Nicolas Bessot ◽  
...  

Background: During gait, the braking index represents postural control, and consequently, the risk of falls. Previous studies based their determination of the braking index during the first step on kinetic methods using force platforms, which are highly variable. This study aimed to investigate whether determining the braking index with a kinematic method, through 3D motion capture, provides more precise results. Methods: Fifty participants (20 to 40 years) performed ten trials in natural and fast gait conditions. Their braking index was estimated from their first step simultaneously using a force platform and VICON motion capture system. The reliability of each braking index acquisition method was assessed by intraclass correlation coefficients, standard error measurements, and the minimal detectable change. Results: Both kinetic and kinematic methods allowed good to excellent reliability and similar minimum detectable changes (10%). Conclusion: Estimating the braking index through a kinetic or a kinematic method was highly reliable.


PeerJ ◽  
2019 ◽  
Vol 7 ◽  
pp. e7575
Author(s):  
Marisja Scheerhagen ◽  
Henk F. van Stel ◽  
Arie Franx ◽  
Erwin Birnie ◽  
Gouke J. Bonsel

Background The aim of the ReproQuestionnaire (ReproQ) is to measure the client’s experience with maternity care, following WHO’s responsiveness model. To support quality improvement, ReproQ should be able to discriminate best from worst organisational units. Methods We sent questionnaires to 27,487 third-trimester pregnant women (response 31%) and to 37,230 women 6 weeks after childbirth (response 39%). For analysis we first summarized the ReproQ domain scores into three summary scores: total score (all eight domains), personal score (four personal domains), and setting score (four setting domains). Second, we estimated the proportion of variance across perinatal units attributable to the ‘actual’ difference across perinatal units using intraclass correlation coefficients (ICCs). Third, we assessed the ability of ReproQ to discriminate between perinatal units based on both a statistical approach using multilevel regression analyses, and a relevance approach based on the minimally important difference (MID). Finally, we compared the domain scores of the best and underperforming units. Results ICCs ranged between 0.004 and 0.025 for the summary scores, and between 0.002 and 0.125 for the individual domains. ReproQ was able to identify the best and worst performing units with both the statistical and relevance approach. The statistical approach was able to identify four underperforming units during childbirth (total score), while the relevance approach identified 10 underperforming units. Conclusions ReproQ, a valid and efficient measure of client experiences in maternity care, has the ability to discriminate well across perinatal units, and is suitable for benchmarking under routine conditions.


Author(s):  
Pedro L. Valenzuela ◽  
Almudena Montalvo-Perez ◽  
Lidia B. Alejo ◽  
Mario Castellanos ◽  
Jaime Gil-Cabrera ◽  
...  

Purpose: Some power meters are available in both bilateral and unilateral versions. However, despite the popularity of the latter, their validity remains unknown. We aimed to analyze the validity of a unilateral pedal power meter for estimating actual (“bilateral”) power output (PO). Methods: Thirty-three male cyclists were assessed at different POs (steady cycling at 100–500 W, as well as all-out sprints), pedaling cadences (70, 85, and 100 repetitions·min−1), and cycling positions (seated and standing). The PO estimated by a left-only power meter (Favero Assioma Uno) was compared with the actual PO computed by a bilateral power meter (Favero Assioma Duo), and the level of bilateral asymmetry (most- vs least-powerful leg) with the latter system was also computed. Results: Nonsignificant differences, high intraclass correlation coefficients (≥.90), and low coefficients of variation (consistently ≤5% except for low PO levels, ie, 5%–7% at 100 W) were found between Favero Assioma Uno and Favero Assioma Duo. However, although a strong intraclass correlation coefficient (.995) was found between both legs, asymmetry values of 4% to 6% were found for all conditions except when pedaling at the lowest PO (100 W), in which asymmetry increased up to 10% to 13%. Conclusions: Although cyclists tend to present some level of bilateral asymmetry during cycling (particularly at low PO), Favero Assioma Uno provides overall valid estimates of actual PO and is, therefore, an economical alternative to bilateral power meters. Caution is needed, however, when interpreting data at the individual level in cyclists with high levels of asymmetry.


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