Importance of native language in a population-based health survey among ethnic Chinese in Australia

Objective: To assess the impacts of survey languages on participation and representativeness of the study subjects in a health survey in a Chinese community in Australia

Diversity across major and candidate genes in European local pig breeds

The aim of this work was to analyse the distribution of causal and candidate mutations associated to relevant productive traits in twenty local European pig breeds. Also, the potential of the SNP panel employed for elucidating the genetic structure and relationships among breeds was evaluated. Most relevant genes and mutations associated with pig morphological, productive, meat quality, reproductive and disease resistance traits were prioritized and analyzed in a maximum of 47 blood samples from each of the breeds (Alentejana, Apulo-Calabrese, Basque, Bísara, Majorcan Black, Black Slavonian (Crna slavonska), Casertana, Cinta Senese, Gascon, Iberian, Krskopolje (Krskopoljski), Lithuanian indigenous wattle, Lithuanian White Old Type, Mora Romagnola, Moravka, Nero Siciliano, Sarda, Schwa-bisch-Hallisches Schwein (Swabian Hall pig), Swallow-Bellied Mangalitsa and Turopolje). We successfully analyzed allelic variation in 39 polymorphisms, located in 33 candidate genes. Results provide relevant information regarding genetic diversity and segregation of SNPs associated to production and quality traits. Coat color and morphological trait-genes that show low level of segregation, and fixed SNPs may be useful for traceability. On the other hand, we detected SNPs which may be useful for association studies as well as breeding programs. For instance, we observed predominance of alleles that might be unfavorable for disease resistance and boar taint in most breeds and segregation of many alleles involved in meat quality, fatness and growth traits. Overall, these findings provide a detailed catalogue of segregating candidate SNPs in 20 European local pig breeds that may be useful for traceability purposes, for association studies and for breeding schemes. Population genetic analyses based on these candidate genes are able to uncover some clues regarding the hidden genetic substructure of these populations, as the extreme genetic closeness between Iberian and Alentejana breeds and an uneven admixture of the breeds studied. The results are in agreement with available knowledge regarding breed history and management, although largest panels of neutral markers should be employed to get a deeper understanding of the population’s structure and relationships

Measures of Motivation and Engagement in Acquired Brain Injury Rehabilitation: Psychometric Properties and Theoretical Perspectives

Individuals with and acquired brain injury (ABI) often experience low motivation to engage in rehabilitation. However, measures of motivation and engagement in ABI populations are scarce. Currently, four such measures exist: the Brain Injury Rehabilitation Trust Motivation Questionnaire-Self (BMQ-S), the Motivation for Traumatic Brain Injury Rehabilitation Questionnaire (MOT-Q), the BMQ-Relative (BMQ-R), and the Rehabilitation Therapy Engagement Scale (RTES), but are without sufficient psychometric investigations and lack a theoretical framework. The purpose of this thesis was to evaluate the psychometric properties of the BMQ-S, MOT-Q, BMQ-R, and RTES in adults with an ABI, and to discuss how motivation theory can inform assessment of motivation in ABI. Thirty-nine adult ABI participants and 20 clinicians were recruited from an ABI rehabilitation program. Patient participants completed the BMQ-S, the MOT-Q, and self-rated measures of insight, apathy, depression, and anxiety. Clinician participants completed the BMQ-R, the RTES, and clinician-rated measures of insight and apathy. The MOT-Q and the BMQ-S had excellent internal consistency and test-retest reliability. The MOT-Q correlated with insight, while the BMQ-S correlated with apathy, depression, anxiety, and insight. The MOT-Q and the BMQ-S did not correlate with each other. The RTES and BMQ-R had excellent internal consistency and good inter-rater reliability. The RTES and the BMQ-R correlated with apathy and insight, and with each other. In light of the result that the BMQ-S and the MOT-Q did not correlate, it was determined that each measure may represent equally important but distinct aspects of motivation. By drawing upon Self-determination Theory, it was concluded that the BMQ-S and the MOT-Q may represent intrinsic and extrinsic motivation, respectively, and that utilizing both can provide a more comprehensive understanding of what factors are influencing a patient’s level of motivation to engage.ThesisMaster of Science (MSc)Low motivation to engage in rehabilitation is a common problem in acquired brain injury (ABI) populations. Four current measures of patient and clinician-rated motivation and engagement designed for ABI exist: the Brain Injury Rehabilitation Trust Motivation Questionnaire-Self (BMQ-S), the Motivation for Traumatic Brain Injury Rehabilitation Questionnaire (MOT-Q), the BMQ-Relative (BMQ-R), and the Rehabilitation Therapy Engagement Scale (RTES). However, these measures have insufficient investigations into whether they accurately measure motivation, and lack a theoretical framework as a basis of assessment. The goal of this thesis was to determine the reliability and validity of four motivation and engagement measures in an ABI population, and discuss the role of motivation theory in improving assessment of motivation in ABI. The results of this thesis suggest that all measures have good to excellent reliability and validity, and that the BMQ-S and the MOT-Q may represent distinct but equally important aspects of motivation in ABI

Introducing the Tele-OCS: Preliminary evidence of validity for a remotely administered version of The Oxford Cognitive Screen

BackgroundRemote cognitive assessments are increasingly used with the rising popularity of teleneuropsychology. Here, we evaluated the performance of the remotely administered Oxford Cognitive Screen (Tele-OCS) compared to in-person administration in adult stroke survivors.Methods40 stroke survivors ( M age = 69.30, SD = 10.44; sex = 30% female) completed in-person and remote versions of the OCS on average 30 days apart, with different trained examiners. The order of administration was counterbalanced. Cohen's d estimates were used to compare performance between modalities.ResultsWe found that the proportion of OCS subtasks impaired did not differ across modalities ( d <.001). With regards to raw subtask scores, only the picture naming subtask and executive score from the trail making subtask were found to be statistically different across modalities, though raw differences were minimal (<1 point difference on average). These statistical differences did not affect impairment classifications.ConclusionsThe Tele-OCS classified cognitive impairments in a comparable way to the in-person version. The validation of the Tele-OCS allows for remote assessment to increase accessibility and pragmatically aid in addressing the clinical need for stroke-specific cognitive screening in a wider population

Measuring Intolerance of Uncertainty After Acquired Brain Injury: Factor Structure, Reliability, and Validity of the Intolerance of Uncertainty Scale–12

Intolerance of uncertainty (IU) is a risk factor for poor mental health. Acquired brain injury (ABI; for example, stroke, traumatic brain injury) often brings considerable uncertainty and increased mood disorder vulnerability. The Intolerance of Uncertainty Scale–Short Form (IUS-12) is a brief, well-validated IU measure in non-ABI samples, comprising two subscales, namely, Prospective Anxiety and Inhibitory Anxiety. Here, for the first time, we investigated its reliability and validity (N = 118), and factor structure (N = 176), in ABI. Both subscales had high test–retest reliability (intraclass correlation coefficients [ICCs] of .75 and .86) and were significantly associated with mood disorder symptoms. The two-factor model was superior to a one-factor IU model fit. Some fit statistics were less than optimal (standardized root mean square residual [SRMR] = 0.06, root mean square error of approximation [RMSEA] = 0.09); hence, exploration of other factor structures in other ABI samples may be warranted. Nonetheless, the IUS-12 appears suitable in ABI

Expression of genes for estrogen receptors α and β in human articular chondrocytes

AbstractObjective To investigate the gene expression of estrogen receptor (ER) α and ERβ in human articular chondrocytes.Methods 16 articular cartilage specimens were obtained from 15 patients during surgery. Three of the specimens were from men and 13 from women; three from hip joints and 13 from knee joints; four were normal and 12 showed osteoarthritic cartilage. Total RNA was extracted from the articular chondrocytes and the expression of both ERα and ERβ genes was investigated by the reverse transcription-polymerase chain reaction (RT-PCR) method.Results Gene expressions of ERα were detected in all specimens and those of ERβ were found in 15 specimens by the RT-PCR method. There was a significant correlation between the amounts of ERα and ERβ. Expression levels of both genes were significantly higher in men than in women. There were no significant differences in the expression levels of both ER genes between the hip and knee joint sites, nor between normal and osteoarthritic tissues.Conclusion This study is to our knowledge the first to demonstrate the gene expression of both ERα and ERβ in human articular chondrocytes. Since there are some functional differences between the two receptors, the effects of estrogen on cartilage metabolism should be elucidated by two different receptor mechanisms.{copy

Genetic diversity and population structure of six autochthonous pig breeds from Croatia, Serbia, and Slovenia

Background: The importance of local breeds as genetic reservoirs of valuable genetic variation is well established. Pig breeding in Central and South-Eastern Europe has a long tradition that led to the formation of several local pig breeds. In the present study, genetic diversity parameters were analysed in six autochthonous pig breeds from Slovenia, Croatia and Serbia (Banija spotted, Black Slavonian, Turopolje pig, Swallow-bellied Mangalitsa, Moravka and Krskopolje pig). Animals from each of these breeds were genotyped using microsatellites and single nucleotide polymorphisms (SNPs). The results obtained with these two marker systems and those based on pedigree data were compared. In addition, we estimated inbreeding levels based on the distribution of runs of homozygosity (ROH) and identified genomic regions under selection pressure using ROH islands and the integrated haplotype score (iHS). Results: The lowest heterozygosity values calculated from microsatellite and SNP data were observed in the Turopolje pig. The observed heterozygosity was higher than the expected heterozygosity in the Black Slavonian, Moravka and Turopolje pig. Both types of markers allowed us to distinguish clusters of individuals belonging to each breed. The analysis of admixture between breeds revealed potential gene flow between the Mangalitsa and Moravka, and between the Mangalitsa and Black Slavonian, but no introgression events were detected in the Banija spotted and Turopolje pig. The distribution of ROH across the genome was not uniform. Analysis of the ROH islands identified genomic regions with an extremely high frequency of shared ROH within the Swallow-bellied Mangalitsa, which harboured genes associated with cholesterol biosynthesis, fatty acid metabolism and daily weight gain. The iHS approach to detect signatures of selection revealed candidate regions containing genes with potential roles in reproduction traits and disease resistance. Conclusions: Based on the estimation of population parameters obtained from three data sets, we showed the existence of relationships among the six pig breeds analysed here. Analysis of the distribution of ROH allowed us to estimate the level of inbreeding and the extent of homozygous regions in these breeds. The iHS analysis revealed genomic regions potentially associated with phenotypic traits and allowed the detection of genomic regions under selection pressure

AML IN REMISSION, ORIGINATING FROM MDS-RARS-T, EXPANDS THE UNDERLYING JAK2 V617F MUTATED CLONE

A mutation in the JAK2 gene is commonly found in patients with MPN, which can sometimes lead to secondary AML. In this case study, we are reporting on an interesting case of secondary AML originating from MDS-RARS-T. The patient had no gross chromosomal changes, and we found that he was JAK2 V617F-mutated. His BM showed 53% of myeloid blasts. After the induction of combined therapy of Venetoclax and Azacytidine, a complete remission of the disease was achieved. However, instead of the expected decrease in the mutated JAK2 alleles, we documented a rise from the initial 55% to 79% of mutated alleles. This can be explained by the fact that treatment for AML targets only one subclone

On the optimum number of metacarpals for roentgenogrammetric measurement

No Abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/37654/1/1330850211_ftp.pd

Tracing the Inside of Pigs Non-Invasively: Recent Developments

Regional markets require a large variety of pig breeds and pork products. Noninvasive techniques like computed tomography, magnetic resonance imaging, dual-energy X-ray absorptiometry, computer vision, or, very often, ultrasound helps to provide the information required for breeding, quality control, payment, and processing. Meanwhile, computed tomography is being used as phenotyping tool by leading pig breeding organizations around the world, while ultrasound B- or A-mode techniques belong to the standard tools, especially to measure subcutaneous fat and muscle traits. Magnetic resonance imaging and dual-energy X-ray absorptiometry, however, are still mainly used as research tools to develop and characterize new phenotypic traits, which usually could not be measured without slaughtering the breeding pigs. A further noninvasive method—already used on a commercial basis, not only in abattoirs—is video 2D or 3D imaging. This chapter will review the latest developments for these noninvasive techniques