This new edition deals with these universal questions, and in the context of the recent developments in molecular cytogenetic analysis, but retaining always the major focus on the needs of the families in which these conditions occur. Thoroughly updated once again, this richly-illustrated text combines basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. The book will give counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action.

Chromosome abnormalities and genetic counseling.

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Goodness Of Fit Statistics For Discrete Multivariate Data

Endurance power of muscles is determined largely by the capacities to oxidize substrates in mitochondria in the process of making ATP by oxidative phosphorylation. This review explores physiological and morphological factors that may cause limitation of carbohydrate and fat utilization by muscle cells. The pathways for oxygen and substrates converge in muscle mitochondria. In mammals, a structural limitation of carbohydrate and lipid transfer from the microvascular system to muscle cells is reached at a moderate work intensity (that is, at 40-50% of VO2max). At higher work rates intracellular substrate stores must be used for oxidation. Because of the importance of these intracellular stores for aerobic work we find larger intramyocellular substrate stores in endurance trained athletes. The transfer limitations for carbohydrates and lipids on the level of the sarcolemma implies that the design of the respiratory cascade from lungs to muscle mitochondria reflects primarily oxygen demand.

Skeletal muscle substrate metabolism.

Phylogenomic analyses recover a clade of large-bodied decapodiform cephalopods.

A new mid-Cretaceous cockroach of stem Nocticolidae and reestimating the age of Corydioidea (Dictyoptera: Blattodea)

The test for model-to-data fitness is a fundamental principle within the statistical sciences. The purpose of such a test is to assess whether the selected best-fitting model adequately describes the behavior in the data. Despite their broad application across many areas of statistics, goodness of fit tests for phylogenetic models have received much less attention than model selection methods in the last decade. At present a number of approaches have been suggested. However, these are often flawed, with problems ranging from the presence of systematic error in the models themselves to the difficulties presented by the nature of phylogenetic data. Ultimately these problems lead to an inadequate choice of statistic. This is one of the main reasons why goodness of fit assessment is often a neglected step within phylogenetic analysis. We argue not only for the necessity of these goodness of fit measures to test how well the model reflects the data, but additionally for the need for "useful" tests that explain why the model-to-data fit may be inadequate. Such tests are a critical part of the model building process, allowing the model to be adapted to provide a better model-to-data fit or to reject a model class outright due to such an inadequate fit that the intended use of the class may be compromised. Proposed and existing methods in both the maximum likelihood and Bayesian framework will be discussed here, whilst highlighting their strengths and limitations for assessing goodness of fit. The final section discusses some critical open statistical problems in goodness of fit assessment for this field, with the hope of encouraging more research into such a fundamental yet underdeveloped area of phylogenetic inference. [Bayesian phylogenetics; Goodness of fit; maximum likelihood; molecular phylogenetics; outlier detection; residual diagnostics.].

/pdf/how-well-does-your-phylogenetic-model-fit-your-data-3q97ijk6tx.pdf

How Well Does Your Phylogenetic Model Fit Your Data

Despite over 50 years of research, a comprehensive understanding of how intramuscular triglyceride (IMTG) is stored in skeletal muscle and its contribution as a fuel during exercise is lacking. Immunohistochemical techniques provide information on IMTG content and lipid droplet (LD) morphology on a fibre type and subcellular-specific basis, and the lipid dye Oil Red O (ORO) is commonly used to achieve this. BODIPY 493/503 (BODIPY) is an alternative lipid dye with lower background staining and narrower emission spectra. Here we provide the first quantitative comparison of BODIPY and ORO for investigating exercise-induced changes in IMTG content and LD morphology on a fibre type and subcellular-specific basis. Estimates of IMTG content were greater when using BODIPY, which was predominantly due to BODIPY detecting a larger number of LDs, compared to ORO. The subcellular distribution of intramuscular lipid was also dependent on the lipid dye used; ORO detects a greater proportion of IMTG in the periphery (5 μm below cell membrane) of the fibre, whereas IMTG content was higher in the central region using BODIPY. In response to 60 min moderate-intensity cycling exercise, IMTG content was reduced in both the peripheral (- 24%) and central region (- 29%) of type I fibres (P < 0.05) using BODIPY, whereas using ORO, IMTG content was only reduced in the peripheral region of type I fibres (- 31%; P < 0.05). As well as highlighting some methodological considerations herein, our investigation demonstrates that important differences exist between BODIPY and ORO for detecting and quantifying IMTG on a fibre type and subcellular-specific basis.

/pdf/divergence-exists-in-the-subcellular-distribution-of-2bsr5lk4xr.pdf

Divergence exists in the subcellular distribution of intramuscular triglyceride in human skeletal muscle dependent on the choice of lipid dye

Prader-Willi syndrome (PWS) is a rare disorder caused by the loss of expression of genes on the paternal copy of chromosome 15q11-13. The main molecular subtypes of PWS are the deletion of 15q11-13 and non-deletion, and differences in neurobehavioral phenotype are recognized between the subtypes. This study aimed to investigate growth trajectories in PWS and associations between PWS subtype (deletion vs. non-deletion) and height, weight and body mass index (BMI). Growth data were available for 125 individuals with PWS (63 males, 62 females), of which 72 (57.6%) had the deletion subtype. There was a median of 28 observations per individual (range 2-85), producing 3565 data points distributed from birth to 18 years of age. Linear mixed models with cubic splines, subject-specific random effects and an autoregressive correlation structure were used to model the longitudinal growth data whilst accounting for the nature of repeated measures. Height was similar for males in both PWS subtypes, with non-deletion females being shorter than deletion females for older ages. Weight and BMI were estimated to be higher in the deletion subtype compared to the non-deletion subtype, with the size of difference increasing with advancing age for weight. These results suggest that individuals with deletion PWS are more prone to obesity.

/pdf/growth-trajectories-in-genetic-subtypes-of-prader-willi-2mvgbjwqdd.pdf

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.

The present study was conducted to meet the needs of a group of schools in a low-income community which have sought to enhance student engagement and achievement through digital learning, but whose continued success is hampered by an ongoing Summer Learning Effect (SLE). This study contributes to understandings about how to design a summer blogging program that both engages students and supports ongoing literacy learning over summer. Existing small-scale studies provide reason to expect that continuation of a school blogging approach is likely to be an effective component to ameliorating the effect of summer for economically disadvantaged students. Here we build on those attempts by investigating how to design such a program to maximise participation and engagement, and then test the efficacy of that design. Program development was a multi-phased, iterative process consistent with a design-based approach to educational research (Anderson & Shattuck, 2012). Learning design needed to be both appealing, to promote sign up, and engaging, to promote ongoing use. Results suggest that blogging in response to well-designed activities had an impact on the summer learning effect in writing and in reading.

The Summer Learning Journey: Ameliorating the summer learning effect using blogging

AIM: To investigate whether combined first-trimester screening (cFTS) biomarkers are associated with cerebral palsy (CP) and to identify CP characteristics associated with abnormal biomarker levels. METHOD: In this retrospective case-control data linkage study, we matched mothers of 435 singletons with CP from a population register to their cFTS records and selected 10 singleton pregnancy controls per case. We compared mean and abnormal levels (expressed as multiples of the median [MoMs]) of pregnancy-associated plasma protein-A (PAPP-A), beta subunit of human chorionic gonadotrophin (β-hCG), and nuchal translucency between cases and controls and between CP subgroups. RESULTS: Compared with control pregnancies, CP pregnancies had lower mean levels of PAPP-A (0.95 vs 1.01 MoM, p=0.02) and β-hCG (0.93 vs 0.99 MoM, p=0.02). Biomarker levels in CP pregnancies were 1.8 times more likely to be associated with abnormally low levels of PAPP-A (p<0.01), 1.4 times for β-hCG (p=0.12), and 2.6 times for low PAPP-A and β-hCG together (p=0.04). In cases with CP, an abnormally low PAPP-A level was associated with moderate preterm birth, low Apgar scores, and Gross Motor Function Classification System level V. Low β-hCG was associated with very low birthweight. INTERPRETATION: Low first-trimester biomarker levels suggest a role for early pregnancy factors in some causal pathways to CP. WHAT THIS PAPER ADDS: Low first-trimester levels of biomarkers in maternal serum are associated with later cerebral palsy (CP). Early pregnancy factors have potential importance in causal pathways to CP. Causal pathways involving preterm birth, term neonatal encephalopathy, and genetic syndromes may be implicated.

Daisy A Shepherd

Papers

How Well Does Your Phylogenetic Model Fit Your Data

Divergence exists in the subcellular distribution of intramuscular triglyceride in human skeletal muscle dependent on the choice of lipid dye

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome.

The Summer Learning Journey: Ameliorating the summer learning effect using blogging

First-trimester maternal serum biomarkers and the risk of cerebral palsy