Plant chromatin on the move: an overview of chromatin mobility during transcription and DNA repair.

It has become increasingly clear in recent years that chromosomes are highly dynamic entities. Chromatin mobility and re-arrangement are involved in many biological processes, including gene regulation and the maintenance of genome stability. Despite extensive studies on chromatin mobility in yeast and animal systems, up until recently, not much had been investigated at this level in plants. For plants to achieve proper growth and development, they need to respond rapidly and appropriately to environmental stimuli. Therefore, understanding how chromatin mobility can support plant responses may offer profound insights into the functioning of plant genomes. In this review, we discuss the state of the art related to chromatin mobility in plants, including the available technologies for their role in various cellular processes.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.[290G>T;293T>A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A>G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726-1G>C and p.(Tyr289Cys). Electroretinography indicated a rod-cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra-ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non-null SUMF1 genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.

Changes needed to reduce risk of musculoskeletal disorders.

Musculoskeletal disorders (MSDs) are the main contributor to disability levels, which are rising as populations age. Workplace hazard exposures are a major source of this problem, and current workplace risk management practices require substantial changes to tackle it more effectively. Most importantly, the current focus of risk management on "manual handling" tasks must broaden to encompass the whole job. This is necessary because a wide range of psychosocial hazards, most of which operate across the whole job rather than particular tasks, are significant contributors to risk. To ensure that risk-control actions are effective, a recurring risk management cycle that includes worker participation and addresses risk from both biomechanical and psychosocial hazards will be essential. Legislation that mandates workplace management of psychosocial hazards would be helpful. Amendment by regulatory bodies of MSD-related guidance and codes of practice so that they reflect current research evidence would also be helpful in communicating the need for change to workplace stakeholders.

A general expression for the statistical error in a diffusion coefficient obtained from a solid-state molecular-dynamics simulation.

Analysis of the mean squared displacement of species k , r k 2 , as a function of simulation time t constitutes a powerful method for extracting, from a molecular-dynamics (MD) simulation, the tracer diffusion coefficient, D k * . The statistical error in D k * is seldom considered, and when it is done, the error is generally underestimated. In this study, we examined the statistics of r k 2 t curves generated by solid-state diffusion by means of kinetic Monte Carlo sampling. Our results indicate that the statistical error in D k * depends, in a strongly interrelated way, on the simulation time, the cell size, and the number of relevant point defects in the simulation cell. Reducing our results to one key quantity-the number of k particles that have jumped at least once-we derive a closed-form expression for the relative uncertainty in D k * . We confirm the accuracy of our expression through comparisons with self-generated MD diffusion data. With the expression, we formulate a set of simple rules that encourage the efficient use of computational resources for MD simulations.

A Wearable Multi-Modal Digital Upper Limb Assessment System for Automatic Musculoskeletal Risk Evaluation.

Continuous ergonomic risk assessment of the human body is critical to avoid various musculoskeletal disorders (MSDs) for people involved in physical jobs. This paper presents a digital upper limb assessment (DULA) system that automatically performs rapid upper limb assessment (RULA) in real-time for the timely intervention and prevention of MSDs. While existing approaches require human resources for computing the RULA score, which is highly subjective and untimely, the proposed DULA achieves automatic and objective assessment of musculoskeletal risks using a wireless sensor band embedded with multi-modal sensors. The system continuously tracks and records upper limb movements and muscle activation levels and automatically generates musculoskeletal risk levels. Moreover, it stores the data in a cloud database for in-depth analysis by a healthcare expert. Limb movements and muscle fatigue levels can also be visually seen using any tablet/computer in real-time. In the paper, algorithms of robust limb motion detection are developed, and an explanation of the system is provided along with the presentation of preliminary results, which validate the effectiveness of the new technology.

Developing a simulation tool to quantify biomechanical load and quality of care in nursing.

Nursing is a high musculoskeletal disorder (MSD) risk job with high workload demands. This study combines Digital Human Modelling (DHM) and Discrete Event Simulation (DES) to address the need for tools to better manage MSD risk. This novel approach quantifies physical-workload, work-performance, and quality-of-care, in response to varying geographical patient-bed assignments, patient-acuity levels, and nurse-patient ratios. Lumbar loads for 86 care-delivery tasks in an acute care hospital unit were used as inputs in a DES model of the care-delivery process, creating a shift-long time trace of the biomechanical load. Peak L4/L5 compression and moment were 3574 N and 111.58 Nm, respectively. This study reports trade-offs in all three experiments: (i) increasing geographical patient-bed assignment distance decreased L4/L5 compression (8.8%); (ii) increased patient-acuity decreased L4/L5 moment (4%); (iii) Increased nurse-patient ratio decreased L4/L5 compression (10%) and moment (17%). However, in all experiments, Quality of care indicators deteriorated (20, 19, and 29%, respectively).Practitioner Summary: This research has the potential to support decision-makers by developing a simulation tool that quantifies the impact of varying operational and design-policies in terms of biomechanical-load and quality of care. The demonstrator-model reports: as geographical patient-bed distance, patient-acuity levels, and nurse-patient ratios increase, biomechanical-load reduces, and quality of care deteriorates.

Musculoskeletal disorders among dental students: a survey from Saudi Arabia.

BACKGROUND: Work-related musculoskeletal disorders (WMSD) are injuries affecting bones, joints, muscles, and tendons due to improper working conditions with serious consequences on health and career. Dentists were found to be at greater risk of developing WMSD compared to other healthcare providers. This study aimed to investigate the prevalence and risk factors of WMSD among dental students in Saudi Arabia. METHODS: This cross-sectional survey-based study recruited dental students across the kingdom using respondent-driven sampling technique. Data was collected using the Nordic Musculoskeletal scale and a validated, self- administered, close-ended questionnaire which assessed WMSDs predisposing factors, enabling factors and musculoskeletal disorders consequences and management. The questionnaire was administered in both Arabic and English languages and was distributed online using google forms. Data analysis was performed using SPSS, Chi-square test or Fisher Exact test was used where appropriate and Multivariate Logistic regression analysis was performed to identify predictors of developing WMSDs. RESULTS: The prevalence of WMSD was 87% (95% CL; 83.9% to 90.3%) among the 462 respondents. Gender, study year, type of practice, having clinics for left-handed, hours of clinical practice, sitting in the proper position while working, use of coping strategies were significantly associated with WMSD prevalence (P < 0.05). Males were OR = 10 times at higher risk of WMSD compared to females (P = 0.0001). Those with daily clinical practice were OR = 5 times at higher risk of WMSD than those who have weekly practice. Those practicing walking, workout, and yoga showed lower prevalence of WMSD (OR = 0.377 & 0.323, p = 0.015, 0.010 respectively). CONCLUSIONS: The prevalence of WMSD among dental students in KSA was high. Males and those with prolonged clinical sessions were at greater risk of WMSD. There is a need for awareness campaigns to educate dental students about risk factors of WMSD. Collegesy, dental colleges should adopt policies in reducing WMSD among their students.

Novel methods to determine complement activation in human serum induced by the complex of Dezamizumab and serum amyloid P.

Lack of simple and robust methods to determine complement activation in human serum induced by antigen-antibody complexes is a major hurdle for monitoring therapeutic antibody drug quality and stability. Dezamizumab is a humanized IgG1 monoclonal antibody that binds to serum amyloid P component (SAP) for potential treatment of systemic amyloidosis. The mechanism of action of Dezamizumab includes the binding of SAP, complement activation through classical pathway, and phagocytosis; however, the steps in this process cannot be easily monitored. We developed two novel methods to determine Dezamizumab-SAP complex-induced complement activation. Complement component 3 (C3) depletion was detected by homogeneous time-resolved fluorescence (HTRF), and C3a desArg fragment, formed after the cleavage of C3 to yield C3a followed by removal of its C-terminal arginine residue, was determined using Meso Scale Discovery (MSD) technology. We found that the presence of both Dezamizumab and SAP was required for complement activation via both methods. The optimal molar ratio of Dezamizumab:SAP was 6:1 in order to obtain maximal complement activation. The relative potency from both methods showed a good correlation to Dezamizumab-SAP-dependent complement component 1q (C1q) binding activity in Dezamizumab thermal-stressed samples. Both SAP and C1q binding, as determined by surface plasmon resonance and the two complement activation potency methods described here, reflect the mechanism of action of Dezamizumab. We conclude that these methods can be used to monitor Dezamizumab quality for drug release and stability testing, and the novel potency methods reported here can be potentially used to evaluate complement activity induced by other antigen-antibody complexes.

MSD2-mediated ROS metabolism fine-tunes the timing of floral organ abscission in Arabidopsis.

The timely removal of end-of-purpose flowering organs is as essential for reproduction and plant survival as timely flowering. Despite much progress in understanding the molecular mechanisms of floral organ abscission, little is known about how various environmental factors are integrated into developmental programmes that determine the timing of abscission. Here, we investigated whether reactive oxygen species (ROS), mediators of various stress-related signalling pathways, are involved in determining the timing of abscission and, if so, how they are integrated with the developmental pathway in Arabidopsis thaliana. MSD2, encoding a secretory manganese superoxide dismutase, was preferentially expressed in the abscission zone of flowers, and floral organ abscission was accelerated by the accumulation of ROS in msd2 mutants. The expression of the genes encoding the receptor-like kinase HAESA (HAE) and its cognate peptide ligand INFLORESCENCE DEFICIENT IN ABSCISSION (IDA), the key signalling components of abscission, was accelerated in msd2 mutants, suggesting that MSD2 acts upstream of IDA-HAE. Further transcriptome and pharmacological analyses revealed that abscisic acid and nitric oxide facilitate abscission by regulating the expression of IDA and HAE during MSD2-mediated signalling. These results suggest that MSD2-dependent ROS metabolism is an important regulatory point integrating environmental stimuli into the developmental programme leading to abscission.

Frontline-matched sibling donor transplant of aplastic anemia patients using primed versus steady-state bone marrow grafts.

Priming donors with G-CSF before BM harvest is reported to improve engraftment and GvHD in recipients. These effects are highly desirable when transplanting patients with non-neoplastic hematologic diseases, particularly AA patients. Here we retrospectively report the outcomes of 39 AA patients receiving a primed BM graft from MSD to 43 patients receiving a steady-state BM graft from MSD, otherwise transplanted using a uniform transplant platform. The graft had higher TNC and CD34 cell concentrations in the primed group (p < 0.001), and that was reflected in higher TNC and CD34 doses per kilogram of recipient in the primed group (p = 0.004 and 0.03, respectively). The OS for primed BM graft recipients was 97.4% and 78.9% for the steady-state BM graft recipients, p-value = 0.01. The cumulative incidence of death without GF was 2.6% in the primed group and 16.3% in the steady-state group, p-value = 0.03. There was no difference in GvHD incidence between the two groups. We confirm that priming improved the TNC and CD34 graft concentration and cell dose; this evidence along with other reported studies constitute reasonable evidence to prove that BM priming improve engraftment. We observed no increase in GvHD using primed BM graft.

Musculoskeletal disorders in video gamers - a systematic review.

BACKGROUND: Video gaming is a recreational activity with yearly increasing popularity. It is mostly a sedentary behavior combined with repetitive movements of the upper limbs. If performed excessively, these movements may promote strain injuries and a sedentary lifestyle is one of the contributing factors to musculoskeletal disorders. Therefore, a systematic review was conducted to evaluate if video gaming negatively affects the musculoskeletal system of video gamers. METHODS: PubMed, Web of Science and The Cochrane Library were systematically searched in order to identify relevant peer reviewed original articles in English published between 2000 and 2021. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method was used for the analysis. Studies were included when they contained investigations of changes of the musculoskeletal system due to video gaming in healthy individuals. Studies with participants older than 60 years or solely psychological, social or cardiovascular outcomes were excluded. An adapted version of the Newcastle-Ottawa Scale was used for the risk of bias analysis. RESULTS: Sixteen observational studies involving a total of 62,987 participants met the inclusion criteria. A majority (11) of the studies reported statistical negative musculoskeletal changes due to video game playtime. Four studies did not report changes and one study found no effect of video game playtime on the musculoskeletal system. Out of the eleven studies, which demonstrated a negative impact of video game playtime on the musculoskeletal system, the most reported painful body parts were the neck (n = 4), shoulder (n = 4) and back (n = 3). Ten studies reported odds ratios (OR) for the dependence of the appearance of musculoskeletal disorders on video game playtime. In eight studies OR were significantly increased (1.3-5.2). CONCLUSION: Eleven out of twelve studies demonstrated a negative impact of video game playtime on the musculoskeletal system. In particular, excessive video game playtimes (> 3 h/day) seemed to be a predictor for the appearance of musculoskeletal disorders. Due to their great popularity across multiple generations, specific and tailored prevention and health promotion programs for video gamers need to be developed to counteract this important public health issue.

Phytochemical Composition of Lichen Parmotrema hypoleucinum (J. Steiner) Hale from Algeria.

In this work, we carried out studies of the chemical composition of hexane, chloroform and ethanol extracts from two samples of the lichen Parmotrema hypoleucinum collected in Algeria. Each sample of the lichen P. hypoleucinum was collected on two different supports: Olea europaea and Quercus coccifera. Hexane extracts were prepared, in Soxhlet; each hexane extract was fractionated by its solubility in methanol; the products soluble in methanol were separated (cold): 1-Hexane, 2-Hexane; and the products insoluble in methanol (cold): 1-Cires, 2-Cires. A diazomethane esterified sample of 1-Hexane, 2-Hexane, 1-Cires and 2-Cires was analyzed by GC-MS, and the components were identified as methyl esters. In the 1-Hexane and 2-Hexane fractions, the methyl esters of the predominant fatty acids in the lichen were identified: palmitic acid, linoleic acid, oleic acid and stearic acid; a hydrocarbon was also identified: 13-methyl-17-norkaur-15-ene and several derivatives of orsellinic acid. In the 1-Cires and 2-Cires fractions, the previous fatty acids were no longer observed, and only the derivatives of orsellinic acid were found. The analysis of the 1-Hexane, 2-Hexane fractions by HPLC-MS/MS allows us to identify different chemical components, and the most characteristic products of the lichen were identified, such as Atranol, Chloroatranol, Atranorin and Chloroatranorin. In the fractions of 1-Cires and 2-Cires, the HPLC-MS/MS analysis reveals that they are very similar in their chemical components; the characteristic products of this lichen in this fraction are Atranorin and Chloroatranorin. In the extracts of chloroform, 1-Chloroform and 2-Chloroform, the analysis carried out by HPLC-MS/MS shows small differences in their chemical composition at the level of secondary products; among the products to be highlighted for this work, we have chloroatranorin, the stictic acid, norstictic acid and other derivatives. In the analysis of the most polar extracts carried out in ethanol: 1-Ethanol and 2-Ethanol, HPLC-MS/MS analysis shows very similar chemical compositions in these two extracts with small differences. In these extracts, the following acids were identified as characteristic compounds of this lichen: constictic acid, stictic acid, substictic acid and methylstictic acid. In the HPLC-MS/MS analysis of all these extracts, alectoronic acid was not found.

Classification of histopathological images of breast cancer using an improved convolutional neural network model.

The accurately automatic classification of medical pathological images has always been an important problem in the field of deep learning. However, the traditional manual extraction of features and image classification usually requires in-depth knowledge and more professional researchers to extract and calculate high-quality image features. This kind of operation generally takes a lot of time and the classification effect is not ideal. In order to solve these problems, this study proposes and tests an improved network model DenseNet-201-MSD to accomplish the task of classification of medical pathological images of breast cancer. First, the image is preprocessed, and the traditional pooling layer is replaced by multiple scaling decomposition to prevent overfitting due to the large dimension of the image data set. Second, the BN algorithm is added before the activation function Softmax and Adam is used in the optimizer to optimize performance of the network model and improve image recognition accuracy of the network model. By verifying the performance of the model using the BreakHis dataset, the new deep learning model yields image classification accuracy of 99.4%, 98.8%, 98.2%and 99.4%when applying to four different magnifications of pathological images, respectively. The study results demonstrate that this new classification method and deep learning model can effectively improve accuracy of pathological image classification, which indicates its potential value in future clinical application.

Characteristics of Salmonella Recovered From Stools of Children Enrolled in the Global Enteric Multicenter Study.

BACKGROUND: The Global Enteric Multicenter Study (GEMS) determined the etiologic agents of moderate-to-severe diarrhea (MSD) in children under 5 years old in Africa and Asia. Here, we describe the prevalence and antimicrobial susceptibility of nontyphoidal Salmonella (NTS) serovars in GEMS and examine the phylogenetics of Salmonella Typhimurium ST313 isolates. METHODS: Salmonella isolated from children with MSD or diarrhea-free controls were identified by classical clinical microbiology and serotyped using antisera and/or whole-genome sequence data. We evaluated antimicrobial susceptibility using the Kirby-Bauer disk-diffusion method. Salmonella Typhimurium sequence types were determined using multi-locus sequence typing, and whole-genome sequencing was performed to assess the phylogeny of ST313. RESULTS: Of 370 Salmonella-positive individuals, 190 (51.4%) were MSD cases and 180 (48.6%) were diarrhea-free controls. The most frequent Salmonella serovars identified were Salmonella Typhimurium, serogroup O:8 (C2-C3), serogroup O:6,7 (C1), Salmonella Paratyphi B Java, and serogroup O:4 (B). The prevalence of NTS was low but similar across sites, regardless of age, and was similar among both cases and controls except in Kenya, where Salmonella Typhimurium was more commonly associated with cases than controls. Phylogenetic analysis showed that these Salmonella Typhimurium isolates, all ST313, were highly genetically related to isolates from controls. Generally, Salmonella isolates from Asia were resistant to ciprofloxacin and ceftriaxone, but African isolates were susceptible to these antibiotics. CONCLUSIONS: Our data confirm that NTS is prevalent, albeit at low levels, in Africa and South Asia. Our findings provide further evidence that multidrug-resistant Salmonella Typhimurium ST313 can be carried asymptomatically by humans in sub-Saharan Africa.

The Association Between Female Sexual Dysfunction and Sexual Dysfunction in the Male Partner: A Systematic Review and Meta-Analysis.

BACKGROUND: The field of study addressing the relationship between FSD and male sexual dysfunction (MSD) represents a pivotal worldwide health issue as interrelationship between FSD and MSD studies are still inconclusive. AIM: To review the interrelationship between FSD and MSD and to conclude whether there is a definitive risk of men developing sexual dysfunction when his partner is suffering from FSD. METHODS: The investigation was conducted following the standard practice for conducting and reporting the findings of systematic reviews and meta-analyses comprising of 4 electronic databases, that is, Embase, PsycInfo, Cochrane Library and Ovid (Medline) from inception to December 2019. Search strategies were developed based on relevant keywords with appropriate truncation and Boolean operators' approach. The quality of studies was employed using the McMaster Critical Review Form for Quantitative Studies and were assessed by independent reviewers. The levels of evidence of the included studies were also determined. OUTCOMES: MSD who had been exposed to FSD. RESULTS: From more than 8,000 studies searched, 26 studies were finally included, and most included studies have reasonable quality. Meta-analysis found a significant sexual dysfunction in men who are partnered with women with FSD. It found a consistent correlation between FDS and sexual dysfunction in men with a significant 3-fold increase in MSD who are partnered with women with FSD (odds ratio = 3.011, 95% confidence interval: 1.856-4.885, P = <.001, I² = 42.26%). Among subtypes of MSD, likelihood increased 4-fold for erectile dysfunction and that of premature ejaculation doubled. The data for several other domains on their components were mixed. CLINICAL TRANSLATION: These findings support the notion that clinicians should evaluate sexual function pertaining to both partners and encompassing several dimensions and needing an interdisciplinary approach. STRENGTH & LIMITATIONS: This review exhaustively examines data search from vast electronic databases and as the comparison of studies is extracted from English journal publications, not all regions worldwide are represented. CONCLUSION: This meta-analysis and systematic review found an association between sexual dysfunction in men partnered with women with FSD, especially in the domains of erectile and ejaculatory function. Chew PY, Choy CL, Sidi Hb,et al. The Association Between Female Sexual Dysfunction and Sexual Dysfunction intheMale Partner: A Systematic Review and Meta-analysis. J Sex Med 2021;18:99-112.

Quantifying Genetic and Environmental Influence on Gray Matter Microstructure Using Diffusion MRI.

Early neuroimaging work in twin studies focused on studying genetic and environmental influence on gray matter macrostructure. However, it is also important to understand how gray matter microstructure is influenced by genes and environment to facilitate future investigations of their influence in mental disorders. Advanced diffusion MRI (dMRI) measures allow more accurate assessment of gray matter microstructure compared with conventional diffusion tensor measures. To understand genetic and environmental influence on gray matter, we used diffusion and structural MRI data from a large twin and sibling study (N = 840) and computed advanced dMRI measures including return to origin probability (RTOP), which is heavily weighted toward intracellular and intra-axonal restricted spaces, and mean squared displacement (MSD), more heavily weighted to diffusion in extracellular space and large cell bodies in gray matter. We show that while macrostructural features like brain volume are mainly genetically influenced, RTOP and MSD can together tap into both genetic and environmental influence on microstructure.

Registered health problems and demographic profile of integrated textile factory workers in Ethiopia: a cross-sectional study.

BACKGROUND: Textile and garment factories are growing in low and middle-income countries as worldwide demand for inexpensive clothing increases each year. These integrated textile and garment production factories are often built-in areas with few workplaces and environmental regulations, and employees can be regularly exposed to workplace hazards with little regulatory oversight. Consequently, workers' health may be significantly affected due to long term exposure to hazards. This study describes registered health problems and their association to work-related and personal factors among workers in integrated textile factories in Ethiopia. METHODS: Institution-based cross-sectional study design was employed for this analysis. A one-year recording of worker's clinical diagnoses (between March 2016 and February 2017) was gathered from the factory clinics of three integrated textile factories. Clinical diagnosis data was obtained as factory workers visited the clinics if feeling unwell. Sociodemographic characteristics and work-related information were obtained from the factory's human resource departments. The sociodemographic and clinical diagnosis statuses of 7992 workers were analyzed. The association between the registered diagnoses and workplace factors (work in textile production, garment production and support process) and personal factors (age, sex and educational status) were studied using logistic regression analysis. RESULTS: The average employee age and years of service were 40 years and 11 years respectively. 60% of workers were females, comprising of 4778 women. 66% of all workers (5276) had 27,320 clinical diagnoses. In total, this caused 16,993 absent working days due to sick leave. Respiratory diseases (34%) and musculoskeletal disorders (29%) were the most prevalent diagnoses, while bodily injuries were the cause of most work absences. Work department, sex and educational status are variables that were most significantly associated with higher prevalence of disease groups. CONCLUSIONS: About two-thirds of the integrated textile factory workers were diagnosed with different types of disease. The textile and garment production department workers were affected at a greater rate than the support process workers, indicating that some diseases may be related to workplace exposure. Further study should investigate rare chronic diseases such as cancer, heart diseases, renal diseases and diabetes.

The effectivity of a passive arm support exoskeleton in reducing muscle activation and perceived exertion during plastering activities.

The supportive effect of arm-support exoskeletons has been mainly studied for single postures or movements. The aim of this study is to analyse the effect of such an exoskeleton on shoulder muscle activity and perceived exertion, in six tasks of plasterers, each including multiple arm movements. The tasks of 'applying gypsum', 'screeding' and 'finishing' were performed at a ceiling and a wall, with exoskeleton (Exo) and without (NoExo). EMG was recorded of six muscles involved in upper arm elevation, four agonists and two antagonists, and plasterers rated their perceived exertion (RPE). In all tasks, the EMG amplitudes of three agonist muscles, Trapezius and Medial Deltoid, and Biceps Brachii, were lower in Exo vs NoExo, while the agonist, Anterior Deltoid, showed lower EMG values in Exo in most tasks. None of the antagonists (Triceps Brachii, Pectoralis Major) showed increased EMG values in the Exo condition. RPE's were lower in Exo condition for all tasks, except for 'applying gypsum to the wall'. Overall, the exoskeleton seems to reduce loads in realistic plastering tasks. Practitioner summary: Exoskeletons are an emerging technology in the field of ergonomics. Passive arm support exoskeletons have mainly been tested in lab studies using continuous overhead work, involving one posture or movement. However, in reality, working tasks generally involve multiple movements. This study investigates the effectiveness of an arm support exoskeleton in work that requires multiple arm movements, specifically in plastering. Muscle activity, as well as perceived exertion were both reduced when working with an exoskeleton. Abbreviations: Exo: with exoskeleton; NoExo: without exoskeleton; RPE: rated perceived exertion; EMG: electromyography; Trap: upper trapezius; AD: anterior deltoid; MD: medial deltoid; BB: biceps brachii; TB: triceps brachii; PM: pectoralis major; RPD: rated perceived discomfort; p50: 50th percentile; p90: 90th percentile; MVC: maximum voluntary contraction; GEE: generalised estimated equations.

Use of wearable sensors to assess patterns of trunk flexion in young and old workers in the Metalworking Industry.

Workers exposed to repeated trunk flexions are at risk of onset of low-back disorders and in individuals aged over 50 this issue is exacerbated by the physiologic decline of the musculoskeletal system and longer lifetime occupational exposure. In this study, we investigated the existence of possible age-related differences in patterns of trunk flexion of workers in the metalworking industry. Thirty-three subjects were monitored during an actual shift using a wearable Inertial Measurement Unit (IMU) to assess trunk flexion angles (i.e. between 30° and 60°, 60°-90° and > 90°). Results show that older workers spent less time with their trunk flexed, regardless of the class of flexion considered, with respect to their younger colleagues. Although further studies are necessary to clarify the existence of strategies aimed at optimising trunk movements during ageing, the IMU-based approach appears useful in highlighting potentially harmful conditions, especially in workers with marked signs of decline in their physical capacities. Practitioner summary: Wearable sensors, which are well tolerated and minimally intrusive, represent a valid option to continuously monitor trunk posture in workers employed in metalworking industry. The results of this study show that they provide valuable information about the patterns of flexion of young and old individuals engaged in physically demanding tasks.

A systematic cross-sectional survey of multiple sulfatase deficiency.

Multiple Sulfatase Deficiency (MSD) is an inborn error of metabolism caused by pathogenic variants in the SUMF1 gene encoding the formylglycine-generating enzyme (FGE) that activates all known sulfatases. FGE deficiency results in widespread tissue accumulation of multiple sulphated substrates. Through a systematic analysis of published cases, we retrieved 80 MSD cases and reviewed the disease clinical, biochemical, and genetic findings. Leukodystrophy, neurosensorial hearing loss, and ichthyosis were the most frequent findings at diagnosis. Of 51 reported pathogenic variants, 20 were likely gene disruptive and the remaining were missense variants. No correlations between class of variants and clinical severity or degree of enzyme deficiency were detected. However, cases harboring variants located at N-terminal always had severe neonatal presentations. Moreover, cases with neonatal onset showed the lowest overall survival rate compared to late-infantile and juvenile onsets. Using GnomAD, carrier frequency for pathogenic SUMF1 variants was estimated to be ~1/700 and the disease prevalence was approximately 1/2,000,000. In summary, MSD is an ultra-rare multisystem disorder with mainly neurologic, hearing and skin involvements. Although the collected data were retrospective and heterogenous, the quantitative data inform the disease natural history and are important for both counseling and design of future interventional studies.