Application of the lymphocyte Cytokinesis-Block Micronucleus Assay to populations exposed to petroleum and its derivatives: results from a systematic review and meta-analysis

Publication date: Available online 4 March 2016
Source:Mutation Research/Reviews in Mutation Research
Author(s): Sabrina Angelini, Justo Lorenzo Bermejo, Gloria Ravegnini, Giulia Sammarini, Patrizia Hrelia
The lymphocyte cytokinesis-block micronucleus (CBMN) assay is applied in many different in vivo biomonitoring studies of human exposure to genotoxic chemicals. Among extensively chemicals investigated we identified petroleum and its derivatives, in particular benzene and the most common mixture of benzene, toluene, and xylene. Although conflicting results have been reported on the effects of benzene exposure, the number of positive findings in independent studies suggests that occupational exposure to benzene causes DNA damage in peripheral blood lymphocytes. To assess current evidence on this hypothesis we conducted a meta-analysis. Our aim was to evaluate the effect of benzene exposure on genetic damage quantified using the CBMN assay on individuals occupationally exposed to petroleum and its derivatives. Statistical analyses were conducted using the rmeta package from the free Software Environment for Statistical Computing R. Combined study results indicated that benzene exposure is associated with an increased level of genetic damage in peripheral blood lymphocytes, as reflected by an increased MN frequency. The summary mean difference in MN frequency between exposed and unexposed individuals was 1.64 (95% CI: 0.80–2.47). Overall, this finding points to MN frequency as a sensitive biomarker which could be used to evaluate genetic damage induced by occupational − industrial or environmental − exposure to benzene. This review also identified some important knowledge gaps as well as the need of large, well-designed studies. In particular, it is fundamental to accurately characterize the investigated population, including dietary habits and genetic variability which could modulate MN frequency in both exposed individuals and unexposed controls. In conclusion, according to present findings the use of the CBMN assay in biomonitoring studies could provide objective evidence to guide prioritization of preventive interventions in subjects occupationally exposed to petroleum derivatives, and in particular benzene.



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Molecular genetics of the COL2A1-related disorders

Publication date: Available online 2 March 2016
Source:Mutation Research/Reviews in Mutation Research
Author(s): Hao Deng, Xiangjun Huang, Lamei Yuan
Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an autosomal dominant or recessive pattern, have been described to be associated with the COL2A1 mutations, and at least 405 mutations ranging from point mutations to complex rearrangements have been reported, though the underlying pathogenesis remains unclear. Significant clinical heterogeneity has been reported in COL2A1-associated type II collagenopathies. In this review, we highlight current knowledge of known mutations in the COL2A1 gene for these disorders, as well as genetic animal models related to the COL2A1 gene, which may help us understand the nature of complex phenotypes and underlying pathogenesis of these conditions.



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Biomonitoring of genotoxic effects for human exposure to nanomaterials: The challenge ahead

Publication date: Available online 4 March 2016
Source:Mutation Research/Reviews in Mutation Research
Author(s): Laetitia Gonzalez, Micheline Kirsch-Volders
Exposures to nanomaterials (NMs), with their specific physico-chemical characteristics, are likely to increase over the next years, as their production for industrial, consumer and medical applications is steadily rising. Therefore, there is an urgent need for the implementation of human biomonitoring studies of genotoxic effects after NM exposures in order to monitor and assure safety for workers and the general population. In this review, most commonly used biomarkers of early genetic effects were analyzed for their adequacy after NM exposures. A more in depth analysis of the ex vivo/in vitro lymphocyte MN assay was performed, although, in literature no studies are available using this assay for NM exposures. Therefore, the known factors determining the NMs tissue/cellular targets and the multiplicity of modes of action of NMs were summarized. The main pending questions are whether (1) lymphocytes are a NM target or an adequate surrogate tissue, (2) whether the buccal MN assay might be more suitable for NM exposures via inhalation or ingestion, as buccal cells might be exposed more directly. While the current state-of-the-art does not allow for drawing firm conclusions, major research gaps are identified and some cautious recommendations can be formulated. Therefore in vitro and in vivo studies should be conducted comparing methodologies side-by-side in the same subjects and for different types of NMs. The ex vivo/in vitro MN assay in its automated version, allowing objective analysis of large cohorts and detection of direct and indirect genotoxic effects, remains a valuable candidate for human biomonitoring to NM exposure. Considering the potential cancer risk from exposure to NMs and previous dramatic experiences with too late surveillance of occupational exposures to similar substances (e.g. to asbestos), there is an urgent need to define and implement adequate scientifically sound biomonitoring methods and programme for exposure to NMs.



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Fatigue Fracture of the Calcaneus: From Early Diagnosis to Treatment: A Case Report of a Triathlon Athlete.

Stress fractures are frequently underdiagnosed and undertreated despite being common in sports. Early diagnosis is crucial; therefore, a high index of clinical suspicion is required. Complementary examinations are essential for diagnosis and follow-up. The authors report a clinical case of a young adult triathlon athlete referring mechanical pain in the rear left foot, with 2 weeks' progression. An earlier increase in daily training intensity was recorded. Complementary examinations confirmed a calcaneal fatigue fracture. Immobilization and no weight bearing were introduced for an initial period of 4 weeks, and the rehabilitation process was started. Progressive weight bearing was introduced between fourth and eighth weeks. Sports activity started at the 12th week. Boundaries to sports activity were eliminated by the 24th week, without pain or functional limitation. Repetitive overload to the heel and intense axial weight bearing in association to repetitive concentric/eccentric gastrocnemius contraction are related to calcaneal stress fracture, the second most common stress fracture in the foot. Calcaneal stress fractures can be adequately treated with activity modification, without casting or surgical intervention. When in the presence of bilateral stress fractures, metabolic and nutritional issues must be considered. The case report highlights the importance of sports medicine examination for detecting intrinsic and extrinsic fatigue fracture risk factors. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Biglycan Inhibits Capsaicin-Induced Substance P Release by Cultured Dorsal Root Ganglion Neurons.

Objective: The purpose of this study was to examine the inhibitory effects of biglycan on substance P release from cultured sensory neurons in response to capsaicin. Study Design: In vitro study of cultured primary sensory neurons from the rabbit dorsal root ganglion (DRG). We interrogated the culture system function with capsaicin. Biglycan is an important structural component of the intervertebral disc that may regulate growth factors and inflammatory mediators. We tested the hypothesis that biglycan inhibits substance P release in response to capsaicin. Results: The DRG cultures were shown to contain both neurons and astrocytes by immunostaining using antibodies recognizing neuron and glial cell markers. Cultured DRG cells respond to capsaicin in a dose- and time-dependent manner (capsaicin dose ranges from 5 to 500 [mu]mol/L; stimulation time ranges from 0 to 60 minutes). The neurons preincubated with biglycan released 27% less substance P compared with neurons without biglycan (n = 4, P = 0.036). Conclusion: We have established a DRG cell culture system, which contains both sensory neurons and the supporting astrocytes. Biglycan, an inhibitor of substance P release by DRG cultures, may serve as an ingredient in intradiscal injectable to reduce back pain. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Diagnosis and Rehabilitation of a Middle Cuneiform Fracture in a Hockey Player: A Case Report.

Isolated cuneiform fractures are rare and are often missed on plain radiographs, leading to delayed diagnosis and delayed return to sport. The authors of this study present a 32-year-old male ice hockey player who sustained trauma to his dorsal midfoot from a slap shot. Radiographs were negative for fracture. After inability to wean out of the controlled ankle movement boot, magnetic resonance imaging was ordered, demonstrating a middle cuneiform fracture. The patient was seen in physical therapy, where aquatic therapy, strength training, and cardiovascular conditioning were progressed. He was able to wean out of the controlled ankle movement boot at 7 weeks after injury and return to playing ice hockey. Here, we outline rehabilitation and a diagnostic and rehabilitative algorithm for those who sustain trauma to the dorsal midfoot with suspected fracture. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Microbial genetics: CRISPR memories of RNA

Nature Reviews Genetics. doi:10.1038/nrg.2016.31

Author: Denise Waldron

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Ultrasound-Guided Steroid Injections for Two Painful Neuromas in the Stump of a Below-Elbow Amputee.

No abstract available

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Evolutionary genetics: Haunted by the past — modern consequences of Neanderthal DNA

Nature Reviews Genetics. doi:10.1038/nrg.2016.26

Author: Darren J. Burgess

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Comparison of the Effectiveness of Transcutaneous Electrical Nerve Stimulation and Interferential Therapy on the Upper Trapezius in Myofascial Pain Syndrome: A Randomized Controlled Study.

Objective: The aim of this study was to compare the effectiveness of transcutaneous electrical nerve stimulation and interferential therapy (IFT) both in combination with hot pack, myofascial release, active range of motion exercise, and a home exercise program on myofascial pain syndrome patients with upper trapezius myofascial trigger point. Design: A total of 105 patients with an upper trapezius myofascial trigger point were recruited to this single-blind randomized controlled trial. Following random allocation of patients to three groups, three therapeutic regimens-control-standard care (hot pack, active range of motion exercises, myofascial release, and a home exercise program with postural advice), transcutaneous electrical nerve stimulation-standard care and IFT-standard care-were administered eight times during 4 wks at regular intervals. Pain intensity and cervical range of motions (cervical extension, lateral flexion to the contralateral side, and rotation to the ipsilateral side) were measured at baseline, immediately after the first treatment, before the eighth treatment, and 1 wk after the eighth treatment. Results: Immediate and short-term improvements were marked in the transcutaneous electrical nerve stimulation group (n = 35) compared with the IFT group (n = 35) and the control group (n = 35) with respect to pain intensity and cervical range of motions (P

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Sonographic Tracking of the Lower Limb Peripheral Nerves: A Pictorial Essay and Video Demonstration.

Compared with the upper limbs, sonographic tracking of peripheral nerves in the lower limbs is more challenging. The overlying muscles are larger, hindering visualization of the deeply embedded nerves by using a linear transducer. The use of a curvilinear transducer-providing an extended view with better penetration for the field of interest-may be useful for scanning the nerves in the hip and thigh. Application of the Doppler mode helps localization of the target nerve by identifying the accompanying vessels. Aiming to demonstrate the relevant tracking techniques, the present article comprises a series of ultrasound images and videos showing how to scan the nerves in the lower limb, that is, femoral, obturator, pudendal, lateral femoral cutaneous, sciatic, saphenous, sural, tibial, and peroneal nerves. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Gene regulation: A gene-centric analysis of transcriptional cascades

Nature Reviews Genetics. doi:10.1038/nrg.2016.30

Author: Ross Cloney

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The Quality of Reporting of Abstracts in Physical Therapy Literature is Suboptimal: Cross-Sectional, Bibliographic Analysis.

Objective: The quality of abstract reporting in physical therapy literature is unknown. The purpose of this study was to provide baseline data for judging the future impact of the 2010 Consolidated Standards of Reporting Trials statement specifically referencing the 2008 Consolidated Standards of Reporting Trials statement for reporting of abstracts of randomized controlled trials across and between a broad sample and a core sample of physical therapy literature. Design: A cross-sectional, bibliographic analysis was conducted. Abstracts of randomized controlled trials from 2009 were retrieved from PubMed, PEDro, and CENTRAL. Eligibility was determined using PEDro criteria. For outcomes measures, items from the Consolidated Standards of Reporting Trials statement for abstract reporting were used for assessment. Raters were not blinded to citation details. Results: Using a computer-generated set of random numbers, 150 abstracts from 112 journals comprised the broad sample. A total of 53 abstracts comprised the core sample. Fourteen of 20 Consolidated Standards of Reporting Trials items for both samples were reported in less than 50% of the abstracts. Significantly more abstracts in the core sample reported (% difference core - broad; 95% confidence interval) title (28.4%; 12.9%-41.2%), blinding (15.2%; 1.6%-29.8%), setting (47.6%; 32.4%-59.4%), and confidence intervals (13.1%; 5.0%-25.1%). Conclusions: These findings provide baseline data for determining if continuing efforts to improve abstract reporting are heeded. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Enhancers as non-coding RNA transcription units: recent insights and future perspectives

Nature Reviews Genetics. doi:10.1038/nrg.2016.4

Authors: Wenbo Li, Dimple Notani & Michael G. Rosenfeld

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Mitchochondrial replacement therapy: the IOM report and its aftermath

Nature Reviews Genetics. doi:10.1038/nrg.2016.21

Authors: I. Glenn Cohen & Eli Y. Adashi

Glenn Cohen and Eli Adashi comment on recommendations and limitations of the Institute of Medicine (IOM) report on mitochondrial replacement therapies in light of recent legislative changes in the United States of America.

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Prenatal Diagnosis of Trisomy 21, 18 and 13 by Quantitative Pyrosequencing of Segmental Duplications

Abstract

Chromosomal aberration mostly occurs in chromosome 21, 18 and 13, with an incidence approximately 1 out of 160 live births in humans, therefore making prenatal diagnosis necessary in clinics. Current methods have drawbacks such as time consuming, high cost, complicated operations and low sensitivity. In this paper, a novel method for rapid and accurate prenatal diagnosis of aneuploidy is proposed based on pyrosequencing, which quantitatively detects the peak height ratio of different bases of segmental duplication. A direct PCR approach was undertaken where a small volume of amniotic fluid was used as the starting material without DNA extraction. Single-stranded DNA was prepared from PCR products and subsequently analyzed using pyrosequencing. The peak height ratio between target and reference chromosome of 2.2 for euploid and 3:2 for a trisomy fetus were used as reference. The reference intervals and z scores were calculated for discrimination of aneuploidy. A total of 132 samples were collected, within trisomy 21 (n = 11), trisomy 18 (n = 3), trisomy 13 (n = 2), and unaffected controls (n = 116). A set of six segmental duplications were chosen for analysis. This method had consistent results with karyotyping analysis, a correct diagnosis with 100% sensitivity and 99.9% specificity.

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Dynamic Ultrasound Imaging for Ulnar Nerve Subluxation and Snapping Triceps Syndrome.

No abstract available

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Dynamic and Doppler Ultrasound Imaging for the Diagnosis of Triangular Fibrocartilage Complex Injury and Ulnocarpal Wrist Instability.

No abstract available

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Comparison of Cardiorespiratory Demand and Rate of Perceived Exertion During Propulsion in a Natural Environment With and Without the Use of a Mobility Assistance Dog in Manual Wheelchair Users.

Objective: The aim of this study was to compare cardiorespiratory demand during manual wheelchair (MWC) propulsion among MWC users with a spinal cord injury (SCI) in a natural environment with and without the use of a trained mobility assistance dog (MAD). Design: In this quasi-experimental repeated-measures analysis of difference, 13 experienced MWC users with an SCI propelled themselves with and without their trained MAD at a self-selected natural speed along a standardized 630-m course in a natural environment. Participants were equipped with a portable gas analyzer to measure their oxygen consumption, ventilation, tidal volume, respiratory quotient, respiratory rate, and heart rate before, during, and after completing the course. Participants also rated their perceived exertion on a modified Borg scale following each trial. Results: All cardiorespiratory outcome measures decreased significantly with the use of a MAD (P

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Carpal Tunnel Syndrome Confounded by Electromyography Disease: A Case Report.

No abstract available

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Limb-Kinetic Apraxia Due to Injury of the Corticofugal Tract from the Secondary Motor Area in a Stroke Patient.

No abstract available

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Randomized Trial of Peripheral Nerve Stimulation to Enhance Modified Constraint-Induced Therapy After Stroke.

Background: Constraint-based therapy and peripheral nerve stimulation can significantly enhance movement function after stroke. No studies have investigated combining these interventions for cases of chronic, mild-to-moderate hemiparesis following stroke. Objective: This study aims to determine the effects of peripheral nerve stimulation paired with a modified form of constraint-induced therapy on upper extremity movement function after stroke. Nineteen adult stroke survivors with mild-to-moderate hemiparesis more than 12 mo after stroke received 2 hours of either active (n = 10) or sham (n = 9) peripheral nerve stimulation preceding 4 hours of modified constraint-induced therapy (10 sessions). Results: Active peripheral nerve stimulation enhanced modified constraint-induced therapy more than sham peripheral nerve stimulation (significance at P

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Barriers and Facilitators to Exercise Participation in People with Hip and/or Knee Osteoarthritis: Synthesis of the Literature Using Behavior Change Theory.

Exercise is recommended for hip and knee osteoarthritis (OA). Patient initiation of, and adherence to, exercise is key to the success of managing symptoms. This study aimed to (1) identify modifiable barriers and facilitators to participation in intentional exercise in hip and/or knee OA, and (2) synthesize findings using behavior change theory. A scoping review with systematic searches was conducted through March 2015. Two reviewers screened studies for eligibility. Barriers and facilitators were extracted and synthesized according to the Theoretical Domains Framework (TDF) by two independent reviewers. Twenty-three studies (total of 4633 participants) were included. The greatest number of unique barriers and facilitators mapped to the Environmental Context and Resources domain. Many barriers were related to Beliefs about Consequences and Beliefs about Capabilities, whereas many facilitators were related to Reinforcement. Clinicians should take a proactive role in facilitating exercise uptake and adherence, rather than trusting patients to independently overcome barriers to exercise. Strategies that may be useful include a personalized approach to exercise prescription, considering environmental context and available resources, personalized education about beneficial consequences of exercise and reassurance about exercise capability, and use of reinforcement strategies. Future research should investigate the effectiveness of behavior change interventions that specifically target these factors. Copyright (C) 2016 Wolters Kluwer Health, Inc. All rights reserved.

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Facilitation of bone resorption activities in synovial lavage fluid patients with mandibular condyle fractures

Summary

The aim of this study was to investigate the bone resorption effect of the mediators delivered in joint cavity of patients with mandibular condyle fractures by detecting osteoclast markers using cellular biochemistry methods, and by analysing bone resorption activities via inducing osteoclast differentiation of the infiltrated cells from arthrocentesis. Sixteen joints in 10 patients with mandibular condyle fractures were evaluated. The control group consisted of synovial fluid (SF) samples from seven joints of four volunteers who had no clinical signs or symptoms involving the temporomandibular joint (TMJ) or disc displacement. We collected SF cells from all patients during therapeutic arthrocentesis. The infiltrating cells from TMJ SF were cultured, differentiated into tartrate-resistant acid phosphatase (TRAP)-positive osteoclast-like cells and examined bone resorption activities. We also investigated factors related to osteoclast induction of SF, using ELISA procedures. Osteoclast-like cells were induced from the SF cells obtained from all patients with condylar fractures. These multinucleated giant cells were positive for TRAP and actin, and had the ability to absorb dentin slices. The levels of macrophage colony-stimulating factor (M-CSF), prostaglandin E2 (PGE2), soluble form of receptor activator of nuclear factor kappa-B ligand (sRANKL) and osteoprotegerin (OPG), in SF samples from the patients, were significantly higher than in the controls. These findings indicate that bone resorption activities in SF from patients with mandibular condyle fractures were upregulated and may participate in the pathogenesis and wound healing.

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Paramedic, nurse win simulation competition

The duo responded to a simulated accident in which they had to treat, extricate, and transport a patient trapped under heavy debris

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