Τρίτη, 29 Μαΐου 2018

From Improved Diagnostics to Presurgical Planning: High-Resolution Functionally Graded Multimaterial 3D Printing of Biomedical Tomographic Data Sets

3D Printing and Additive Manufacturing, Ahead of Print.


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Quantitative Morphological Variation in the Developing Drosophila Wing

Quantitative genetic variation in morphology is pervasive in all species and is the basis for the evolution of differences among species. The measurement of morphological form in adults is now beginning to be combined with comparable measurements of form during development. Here we compare the shape of the developing wing to its adult form in a holometabolous insect, Drosophila melanogaster. We used protein expression patterns to measure shape in the developing precursors of the final adult wing. Three developmental stages were studied: late larval third instar, post-pupariation and in the adult fly. We studied wild-type animals in addition to mutants of two genes (shf and ds) that have known effects on adult wing shape and size. Despite experimental noise related to the difficulty of comparing developing structures, we found consistent differences in wing shape and size at each developmental stage between genotypes. Quantitative comparisons of variation arising at different developmental stages with the variation in the final structure enable us to determine when variation arises, and to generate hypotheses about the causes of that variation. In addition we provide linear rules allowing us to link wing morphology in the larva, with wing morphology in the pupa. Our approach provides a framework to analyze quantitative morphological variation in the developing fly wing. This framework should help to characterize the natural variation of the larval and pupal wing shape, and to measure the contribution of the processes occurring during these developmental stages to the natural variation in adult wing morphology.



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PRDM1 silences stem cell-related genes and inhibits proliferation of human colon tumor organoids [Genetics]

PRDM1 is a tumor suppressor that plays an important role in B and T cell lymphomas. Our previous studies demonstrated that PRDM1β is a p53-response gene in human colorectal cancer cells. However, the function of PRDM1β in colorectal cancer cells and colon tumor organoids is not clear. Here we show...

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Early Clinical Outcomes of Intraarticular Injections of Bone Marrow Aspirate Concentrate for the Treatment of Early Osteoarthritis of the Hip and Knee: A Cohort Study

Bone marrow aspirate concentrate (BMC) is one of the few cell-based therapies available as a possible biological treatment for early osteoarthritis (OA). Its efficacy, safety, and benefit compared with other treatments are still to be determined.

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Postneedling soreness and tenderness after different dosages of dry needling of an active myofascial trigger point in patients with neck pain: a randomised controlled trial

Previous studies in asymptomatic subjects have demonstrated that myofascial trigger point (MTrP) dry needling is frequently associated with postneedling soreness. However, to the author's knowledge, there is not any study that performs a detailed description of postneedling soreness characteristics in patients with myofascial pain. This information could help clinicians to make evidence-informed decisions considering the benefits and negative effects of different dry needling dosages.

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The value of electrochemical skin conductance measurement using Sudoscan ® in the assessment of patients with familial amyloid polyneuropathy

Familial amyloid polyneuropathy (FAP) due to transthyretin (TTR) mutation results from an irreversible extracellular fibril protein deposits caused by mutated TTR and is a length-dependent small-fiber predominant neuropathy (Planté-Bordeneuve and Said, 2011). Because of this characteristic, the evaluation of the autonomic cutaneous innervation of the extremities by unmyelinated C fibers is particularly relevant in this disease. A few studies addressed this issue. At distal limb level, sudomotor innervation was assessed in patients with TTR-FAP by sympathetic skin reflex recording (Montagna et al., 1996; Alves et al., 1997; Shivji and Ashby, 1999; Conceição et al., 2008, 2014; Lefaucheur et al., 2013, 2015; Castro et al., 2016), quantitative sudomotor axon reflex testing (QSART) (Wang et al., 2008; Kim et al., 2009), and sweat gland quantitation in skin biopsy (Chao et al., 2015).

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Quantitative EEG reflects Non-Dopaminergic Disease Severity in Parkinson’s Disease

Parkinson's Disease (PD) is a multisystem neurodegenerative disorder, caused by progressive degeneration of both dopaminergic and non-dopaminergic neurons (Jellinger, 2012). Dopaminergic neurons account primarily for the characteristic motor symptoms of PD, whilst non-dopaminergic neurons account for non-motor symptoms such as impaired cognition, psychiatric manifestations or sleep disturbances. PD is typically treated with oral dopaminergic medication, which alleviates motor symptoms. However, medication-related motor complications occur in the majority of patients within 10 years of disease (Ahlskog et al., 2001).

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Early differentiation of Dementia with Lewy bodies and Alzheimer’s disease: Heart rate variability at mild cognitive impairment stage

Dementia with Lewy bodies (DLB) is the second most common type of degenerative dementia after Alzheimer's disease (AD). Mild cognitive impairment (MCI) is well-known as a precursor of AD, but often also precedes DLB (Ferman et al., 2013; Jicha et al., 2010; McKeith et al., 2016; Yoshizawa et al., 2013). Early differentiation of DLB from AD at MCI stage is crucial for early intervention and prognosis (Bergstrom et al., 2016; Sevigny et al., 2016). However, clinical diagnosis of DLB in the early stages can be difficult because few patients display all of the core clinical features, which leads to low sensitivity of current DLB criteria (Nelson et al., 2010).

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Rapid Eye Movement Sleep Behavior Disorder and the Link to Alpha-Synucleinopathies

Rapid eye movement (REM) sleep, which occupies approximately 20-25% of total sleep time, is a cyclical sleep state, occurring in intervals of 90-120 minutes during the night. Normally, during REM sleep, there is active inhibition of motor activity, which results in complete or near- complete muscle atonia. Atonia results from an interplay of multiple neurotransmitter systems, with a decrease in excitatory activity and increase in the inhibitory glycinergic and GABAergic premotor neuronal input to motor neurons.

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Motor Unit Number Index (MUNIX) and the Chowkidar

Clinical neurophysiological techniques have been utilized in research for many years, ranging from the simplest measures, such as nerve conductions, to the more sophisticated, such as quantitative electromyography and motor unit number estimation (MUNE). Motor unit number index (MUNIX) is a relatively new and novel form of MUNE that combines the recording of a compound muscle action potential (CMAP) with surface-recorded EMG signal (Nandedkar et al 2004). Similar to other MUNE techniques, the CMAP is the conditio sine qua non of the technique (de Carvalho, et al 2018).

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Mechanisms of electrical vasoconstriction

Electrical vasoconstriction is a promising approach to control blood pressure or restrict bleeding in non-compressible wounds. We explore the neural and non-neural pathways of electrical vasoconstriction in-vivo.

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Trainer in a pocket - proof-of-concept of mobile, real-time, foot kinematics feedback for gait pattern normalization in individuals after stroke, incomplete spinal cord injury and elderly patients

Walking disabilities negatively affect inclusion in society and quality of life and increase the risk for secondary complications. It has been shown that external feedback applied by therapists and/or robotic ...

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A head transcriptome provides insights into odorant binding proteins of the bamboo grasshopper

Abstract

The bamboo grasshopper Ceracris kiangsu is a famous bamboo pest in China. The identification of genes involved in olfactory behavior of C. kiangsu is necessary for better understanding the molecular basis and expression profiles of behavior ecology. However, necessary genomic and transcriptomic data are lacking in the species, limiting control efficiency. The primary objective of this study was to find and describe odorant binding proteins in the head of the bamboo grasshopper. We performed the paired-end sequencing on an Illumina Hiseq2000 following the vendor's recommended protocol. Functional annotation was performed by comparison with public databases. OBP genes were first identified using BLASTN and BLASTX results from our C. kiangsu datebase, which was established from the date of transcriptome sequencing. The gene-specific primers were used to conduct RT-PCR to detect the tissue distribution of OBPs using a SYBR Premix ExTaq kit following the manufacturer's instructions with a real-time thermal cycler. We obtained more than 133 million clean reads derived from the C. Kiangsu heads using the next-generation sequencing, which were assembled into 260,822 unique sequences (average 814 bp). We have detected eight putative odorant binding protein genes (OBPs) of C. kiangsu for the first time, and analyzed the expression profiles of the OBPs in different tissues (head, antenna, mouthpart, body and leg). Our results reveal that the eight OBPs display a clear divergence, strongly indicating that they possessed diverse functions, and thus provides comprehensive sequence analysis for elucidating the molecular basis of OBPs in C. kiangsu. In addition, we find that the relative expression levels of OBP1, OBP2 and OBP8 are significantly higher in the antennae as compared to the other OBP genes, suggesting that these three OBP genes play crucial roles in the locust's odorant discrimination. In general, this is the first study to characterize the complete head transcriptome of C. kiangsu using high-throughput sequencing. The study opens a window for functional characterization of the OBPs of C. kiangsu, with potential for new or refined applications of semiochemicals for control of this notorious pest.



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From genome-wide associations to candidate causal variants by statistical fine-mapping

From genome-wide associations to candidate causal variants by statistical fine-mapping

From genome-wide associations to candidate causal variants by statistical fine-mapping, Published online: 29 May 2018; doi:10.1038/s41576-018-0016-z

Fine-mapping is the process by which a trait-associated region from a genome-wide association study (GWAS) is analysed to identify the particular genetic variants that are likely to causally influence the examined trait. This Review discusses the diverse statistical approaches to fine-mapping and their foundations, strengths and limitations, including integration of trans-ethnic human population data and functional annotations.

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Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Abstract

Craniosynostosis (CS) refers to the group of craniofacial malformations characterized by the premature closure of one or more cranial sutures. The disorder is clinically and genetically heterogeneous and occurs usually as an isolated trait, but can also be syndromic. In 30–60% of patients, CS is caused by known genetic factors; however, in the rest of the cases, causative molecular lesions remain unknown. In this paper, we report on a sporadic male patient affected by complex CS (metopic and unilateral lambdoid synostosis), muscular hypotonia, psychomotor retardation, and facial dysmorphism. Since a subset of CS results from submicroscopic chromosomal aberrations, we performed array comparative genomic hybridization (array CGH) in order to identify possibly causative copy-number variation. Array CGH followed by breakpoint sequencing revealed a previously unreported de novo 1.26 Mb duplication at chromosome 1q22-q23.1 that encompassed two genes involved in osteoblast differentiation: BGLAP, encoding osteocalcin (OCN), and LMNA, encoding lamin A/C. OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone deformities, and delayed closure of the cranial sutures. Since LMNA and BGLAP overexpression promote osteoblast differentiation and calcification, phenotype of our patient may result from misexpression of the genes. Based on our findings, we hypothesize that both LMNA and BGLAP may be implicated in the pathogenesis of CS in humans. However, further studies are needed to establish the exact pathomechanism underlying development of this defect.



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From genome-wide associations to candidate causal variants by statistical fine-mapping



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A reply to Sahle and Braun's reply to ‘The pattern of emergence of a Middle Stone Age tradition at Gademotta and Kulkuletti (Ethiopia) through convergent tool and point technologies’ [J. Hum. Evol. 91 (2016) 93–121]

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Publication date: Available online 28 May 2018
Source:Journal of Human Evolution
Author(s): Katja Douze, Anne Delagnes, Veerle Rots, Brad Gravina
Sahle and Braun's (in press) recent comments on our identification (Douze and Delagnes, 2016) of diachronic trends in Middle Stone Age point traditions in several lithic assemblages from the sites of Gademotta and Kulkuletti (Ethiopia) focuses on pointed tool function rather than the gradual technological shifts we observed between sites. Here we address several of what we consider to be inaccuracies and misinterpretations concerning our work with the Gademotta and Kulkuletti lithic assemblages (Douze, 2012, 2014), more specifically, Sahle and Braun's (in press) interpretation of the tranchet blow technique. This discussion is inseparable from a critical review of the evidence advanced by Sahle and Braun to support projectile technology being present in the Gademotta Formation as early as >279 ka.



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Comparison of Duke Activity Status Index with cardiopulmonary exercise testing in cancer patients

Abstract

Purpose

The Duke Activity Status Index (DASI), a patient-administered questionnaire, is used to quantify functional capacity in patients undergoing cancer surgery.

Methods

This retrospective cohort study assessed whether the DASI was accurate in predicting peak oxygen consumption (pVO2) that was objectively measured using cardiopulmonary exercise testing (CPET) in 43 consecutive patients scheduled for elective major cancer surgery at a tertiary cancer centre. The primary outcome measured the limits of agreement between DASI-predicted pVO2 and actual measured pVO2.

Results

The study population was elderly (median 63 years, interquartile range 18), 58% were male, with the majority having intraabdominal cancer surgery. Although the DASI scores were statistically related to the measured pVO2 (N = 43, adjusted R2 = 0.20, p = 0.002), both the bias (8 ml kg− 1 min− 1) and 95% limits of agreement (19.5 to − 3.4 ml kg− 1 min− 1) between the predicted and measured pVO2 were large. Using some of the individual components, recalibrating the intercept and regression coefficient of the total DASI score did not substantially improve its ability to predict the measured pVO2.

Conclusion

In summary, both the limits of agreement and bias between the measured and DASI-predicted pVO2 were substantial. The DASI-predicted pVO2 based on patient's assessment of their functional status could not be considered a reliable surrogate of measured pVO2 during CPET for the population of patients pending major cancer surgery and cannot, therefore, be used as a triage tool for referral to CPET centres for objective risk assessment.



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