bluuebunny/crossref_metadata_2025_split huggingface dataset:
Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation
Authors: Magno Silvia , Ceccarini Giovanni , Pelosini Caterina , Ferrari Federica , Prodam Flavia , Gilio Donatella , Maffei Margherita , Sessa Maria Rita , Barison Andrea , Ciccarone Annamaria , Emdin Michele , Aimaretti Gianluca , Santini Ferruccio 
Published: August 2020

Abstract
Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose, and partial alopecia manifesting around 10 to 15 years of age recurrently associated with: (1) partial lipodystrophy; (2) proteinuric nephropathy; (3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); and (4) sensorineural hearing impairment. In all patients, genetic testing revealed a missense heterozygous lamin A/C gene (LMNA) mutation c.1045 C &gt; T (p.Arg349Trp). Ten patients with LMNA p.R349W mutation have been reported so far, all presenting with similar features, which represent the key pathological hallmarks of this subtype of APS. The associated kidney and cardiac complications occurring in the natural history of the disease may reduce life expectancy. Therefore, in these patients a careful and periodic cardiac and kidney function evaluation is required.
Categorizing 10 Sports According to Bone and Soft Tissue Profiles in Adolescents
Authors: AGOSTINETE RICARDO RIBEIRO , FERNANDES ROMULO ARAÚJO , NARCISO PEDRO HENRIQUE , MAILLANE-VANEGAS SANTIAGO , WERNECK ANDRÉ OLIVEIRA , VLACHOPOULOS DIMITRIS 
Published: August 2020

ABSTRACTPurposeConsidering the different loading and training characteristics of the sports practiced during growth, it is important to specify and categorize the bone and soft tissue adaptations in adolescent athletes. This study aimed to categorize 10 different loading sports and a nonsport group and identify the differences in bone density and soft tissues.MethodsThe sample included 625 adolescents (10 to 17 yr of age) of 10 sports (soccer, basketball, volleyball, track and field, judo, karate, kung fu, gymnastics, baseball, and swimming) and a nonsport group. Dual-energy x-ray absorptiometry assessed areal bone mineral density (aBMD), bone mineral apparent density (BMAD), and soft tissues (lean soft tissue and fat mass). The results were adjusted for sex, peak height velocity status, lean soft tissue, fat mass, and weekly training volume.ResultsThe comparisons among groups showed that soccer had the highest whole-body aBMD (mean ± SEM: 1.082 ± 0.007 g·cm−2) and lower limb aBMD (1.302 ± 0.010 g·cm−2). Gymnastics presented the highest upper limb aBMD (0.868 ± 0.012 g·cm−2) and whole-body BMAD (0.094 ± 0.001 g·cm−3). Swimming presented the lowest aBMD values in all skeletal sites (except at the upper limbs) and whole-body BMAD. The soft tissue comparisons showed that soccer players had the highest lean soft tissue (43.8 ± 0.7 kg). The lowest fat mass was found in gymnasts (8.04 ± 1.0 kg).ConclusionThe present study investigated and categorized for the first time 10 different sports according to bone density and soft tissue profiles. Soccer and gymnastics sport groups were found to have the highest bone density in most body segments, and both sports were among the groups with the lowest fat mass.
Ischemic Preconditioning Blunts Loss of Knee Extensor Torque Complexity with Fatigue
Authors: PETHICK JAMIE , CASSELTON CHARLOTTE , WINTER SAMANTHA L. , BURNLEY MARK 
Published: August 2020

ABSTRACT

Introduction
Neuromuscular fatigue reduces the temporal structure, or complexity, of muscle torque output, purportedly through an effect on motor unit behavior. Ischemic preconditioning (IPC), an emerging ergogenic aid, has been demonstrated to have a potent effect on muscular output and endurance. We therefore tested the hypothesis that IPC would attenuate the fatigue-induced loss of muscle torque complexity.

Methods
Ten healthy participants (6 males/4 females) performed intermittent isometric knee extension contractions (6 s contraction, 4 s rest) to task failure at 40% maximal voluntary contraction. Contractions were preceded by either IPC (three bouts of 5 min proximal thigh occlusion at 225 mm Hg, interspersed with 5 min rest) or SHAM (as IPC, but occlusion at only 20 mm Hg) treatments. Torque and EMG signals were sampled continuously. Complexity and fractal scaling were quantified using approximate entropy (ApEn) and the detrended fluctuation analysis (DFA) α scaling exponent. Muscle oxygen consumption (mV˙O2) was determined using near-infrared spectroscopy.

Results
IPC increased time to task failure by 43% ± 13% (mean ± SEM, P = 0.047). Complexity decreased in both trials (decreased ApEn, increased DFA α; both P < 0.001), although the rate of decrease was significantly lower after IPC (ApEn, −0.2 ± 0.1 vs –0.4 ± 0.1, P = 0.013; DFA α, 0.2 ± 0.1 vs 0.3 ± 0.1, P = 0.037). Similarly, the rates of increase in EMG amplitude (P = 0.022) and mV˙O2 (P = 0.043) were significantly slower after IPC.

Conclusion
These results suggest that the ergogenic effect of IPC observed here is of neural origin and accounts for the slowing of the rates of change in torque complexity, EMG amplitude, and mV˙O2 as fatigue develops.
Operational Values of Radioactive Skin Contamination in the Case of Radiological Accident
Authors: Grachev M. , Salenko Yu. , Abramov Yu. , Frolov G. , Klochkov V. , Kukhta B. , Tesnov I. 
Published: August 2020

Purpose: Development of recommendations on the use in medical practice of institutions under FMBA of Russia of operational values of radioactive skin contamination in the event of radiological accidents.
Material and methods: The easily measured radiation parameters were used as operational values: ambient dose equivalent rate (ADER) of γ-radiation, density of skin contamination with γ-, β- and α-emitting radionuclides. Operational values ​​of skin contamination were estimated on the basis of experimental data described in the literature and models on the kinetics of radioactive substances transport in the body, accepted values ​​of dose criteria for deterministic and stochastic effects. The estimation of radioactive material resorption through the skin was based on the results of experimental studies in laboratory animals (mainly piglets) for a limited set of chemical compounds of radionuclides.
Results: The values of γ-ADER of the main dose-forming radionuclides measured at a distance of 10 cm from the skin surface in the range of 10–1000 μSv/h and the possible health effects due to the skin exposure and the intake of radioactive substances into the body were presented. In the IAEA recommendations, the level of skin contamination at 1 µSv/h is considered as a significant operational value according to the criterion of radioactive substances intake through the mouth from the contaminated surface of the hands. However, in our opinion, this estimate is excessively conservative; therefore it is not included in the recommended operational values. If the skin is contaminated with γ-β-emitting radionuclide solutions at a surface contamination higher than 106 Bq/cm2 (ADER ≥1000 µSv/h), the out of turn emergency decontamination should be carried out. Obligatory indications for the whole body counter examination after thorough decontamination and conducting biophysical analysis of bioassay are the following operational values: γ-ADER from the skin > 10 µSv/h; surface contamination of intact skin with β-active radionuclides > 20 000 β-part./(cm2·min); surface contamination of intact skin with α-active radionuclides > 200 α-part./ (cm2·min).
Conclusion: The recommended operational values allow preliminarily and promptly to assess the health risk not only in the case of external (contact) exposure of the skin and underlying tissues, but also due to the intake of soluble radioactive substances into the body through intact and damaged (injured) skin. Taking into account the high degree of uncertainty of the estimates obtained, the operational values ​​should be considered as strictly conservative. They should be used only to determinate of urgency of decontamination carrying out for the provision of medical care during the prehospital and early hospital periods with the obligatory follow-up dosimetry examination for the final assessment of absorbed dose.
About of the Necessary of Corrections of the NRB-99/2009 and OSPORB-99/2010
Authors: Serebryakov B. 
Published: August 2020

Purpose: The Basic Sanitary Rules (OSPORB-99/2010) and the Standards of Radiation Safety (NRB-99/2009) contain requirements on the treatment of radionuclide contaminated materials and waste, but non-radioactive substances and radioactive waste. The aim of this work is to develop recommendations for adjustment of OSPORB-99/2010 and NRB-99/2009 for radiation safety of current and future generations of people.
Results: Identified and justified by the shortcomings of NRB-99/2009 and OSPORB-99/2010 governing the treatment of materials and waste contaminated by radionuclides, but non-radioactive substances and radioactive waste, which can lead to overexposure of present and future generations of people. Developed and justified proposals for adjustments to NRB-99/2009 and OSPORB-99/2010.
Conclusions: It was proposed adjustment of NRB-99/2009 and OSPORB-99-2010:
in NRB-99/2009 it was proposed to delete from paragraph 5.3.4 the provisions regulating the use of materials for road construction;
in OSPORB-99/2010 the return to OSPORB-99 on establishment of the lower border of wastes and materials of limited use on total alpha and beta-activity is offered.
Examination of the Health Status of the Population in the Vicinity of the Nerpa Shipyard Involved in the Decommission and Dismantlement of the Nuclear Legacy Facility – FTB Lepse
Authors: Lyaginskaya A. , Shandala N. , Kiselev S. , Ermalitskiy A. , Isaev D. , Kuptsov V. 
Published: August 2020

Purpose: Purpose of this report is to assess the health status of the residents of the town of Snezhnogorsk, located in the impact area of the shipyard (SRZ Nerpa) involved in the decommission and dismantlement of the floating technical base Lepse (PTB Lepse).
Material and method: The following parameters were assessed as public health indicators: total primary and chronic primary morbidity of adult and children population, child disability, reproductive health in terms of the status of pregnant women and newborns, general and child mortality. Annual external radiation background values were evaluated along with contents in soil and water of manmade radionuclides, such as 137Cs and 90Sr, and natural ones, such as 226Ra, 223Th, 40K and 235U.
Results: The health of the population of the town of Snezhnogorsk, being measured by incidence indicators and reproductive health, is lower than that in the country as a whole: the adult morbidity (667.7 ± 4.2 and 454.2 ± 19.8 per 1000 residents respectively) and child morbidity (3336.2 and 2052.3 ± 194.4 per 1000 residents respectively) is higher; the frequency of adverse pregnancy outcomes (stillbirth, early neonatal fetal death, spontaneous abortions) is also higher – 86.2 ± 18.4 and 46.6 per 1000 residents respectively.
Conclusion: The main causes of the negative impact on the health of the population of the town of Snezhnogorsk are climatic and geographical conditions of the Kola Arctic and the presence of medium-light iodine deficiency (goiter endemia).
Forecast of Radiation Risks of the Population in the Contaminated 137Cs Territories of Russia, in Accordance with Current ICRP Recommendations
Authors: Menyajlo A. , Kashcheev V. , Pryakhin E. , Maksyutov M. , Tumanov K. , Ivanov V. 
Published: August 2020

Purpose: Calculations of radiation detriment to the population currently living (in 2020) in the territories of Russia contaminated with 137Cs after the Chernobyl accident in 1986.
Material and methods: Radiation detriment was calculated in two ways: according to the original ICRP method, and approximate calculation as the product of the nominal risk factor of RSS-99/2009 by the effective dose (nominal radiation detriment). For ICRP calculations, equivalent doses were estimated using the dose coefficients of the US Environmental Protection Agency (EPA). The number of the studied population at the beginning of 2020 was 142676 people, 65205 men and 77471 women. This is mainly the population of the Bryansk region and Tula region, 85.5 % and 10 % of the total population, respectively. The average accumulated effective dose of the population was 30.6 mSv, and the maximum individual accumulated dose was 707 mSv.
Results: In 2020, for men at the age of 44 and for women at the age of 55, the nominal radiation detriment is approximately equal to the value of radiation detriment calculated using the ICRP method. At the same time, the nominal detriment is significantly (up to 2.3 times) underestimated for younger and overestimated for older ages. In 2020, the critical population groups with the highest accumulated doses and maximum radiation detriment are men aged 34 and women aged 35. For these population groups, the average accumulated effective doses were 35.3 mSv and 39.2 mSv, and the average radiation detriment was 2.6×10–3 and 4.2×10–3, for men and women, respectively. For 11.8 % of the population (8.3 % of men and 14.8 % of women), the individual radiation detriment calculated using the ICRP method exceeds the value of 3.5×10–3, which corresponds to the maximum increase in individual risk for the population over 70 years of exposure, established by RSS-99/2009 for normal exposure conditions. The maximum radiation detriment of 3.9×10–2 was found for a woman of the Krasnogorsky district of the Bryansk region at the age of 37 years, with an accumulated effective dose of 392 mSv.
Conclusion: The results of this work can be used in preparing recommendations to health authorities on improving medical supervision of exposured citizens living in areas contaminated with radionuclides, as well as in developing regulatory documents for the provision of targeted medical care to people from high radiation risk groups using personalized medicine methods.
Postradiation Effects of Low Intensity Electromagnetic Radiation with a Frequency of 900 MHz in Rat Liver
Authors: Petrosyan M. , Nersesova L. , Karalova E. , Avetisyan A. , Abroyan L. , Akopian L. , Gazaryants M. , Akopian J. 
Published: August 2020

Purpose: To study the changes in the activity of the liver and blood serum creatine kinase (KK) and the nucleus-nucleolus apparatus of hepatocytes of rats, subjected to the low-intensity electromagnetic radiation of 900 MHz and 25 µW/cm2 energy flux density, typical for a range of mobile phones.
Material and methods: The experiments were carried out on white outbred male rats of 6 months of age, weighing 180–200g. The generator Panoramic X1-42 was used as a source of radiation having a frequency of 900 MHz. The activity of CK in the blood serum and liver extracts respectively was determined spectrophotometrically, based on the accumulation of free creatine. Using the extent of the DNA content in rat hepatocytes relative to the accepted standard, the distribution of hepatocytes in ploidy (measured in percentage poins) was detected; so was determined the ratio of eu- and aneuploid cells.
Results: It appears that the two-hour single total exposure of rats causes more substantial changes in the activity levels of rats both liver and serum creatine kinase than the total time-wise comparable fractional exposure; while the enzyme exhibits signs of significant adaptation. A decrease in the average DNA content of the nucleus and nucleolus, as well as the average number of nucleolus per nucleus, along with an increase in the number of nucleolus-free nuclei after a single radiofrequency irradiation act indicates certain inhibition of the transcriptional activity of hepatocytes. At the same time, a post-radiation increase of hypodiploid cells, half of which are nucleolus-free hepatocytes, as well as an increase in the number of triploid cells, accompanied by a decrease in the number of tetraploid hepatocytes and the disappearance of hypertetraploid hepatocytes, indicate the incidence of death of a significant number of hepatocytes.
Conclusion: The rat liver CK is sensitive to the action of both single low-intensity electromagnetic radiation with a frequency of 900 MHz and that dispersed through fractional exposure: the biological effect of a single exposure is more pronounced. The dynamics of the post-radiation changes occurring in the hepatocyte population upon their single radiofrequency irradiation indicates certain inhibition of the transcriptional activity of the hepatocytes, as well as the incidence of death of a significant number of hepatocytes.
Size Distribution, Morphology and Elemental Composition of Aerosol Particles on the Fabrication of Mixed Nitride Uranium-Plutonium Fuel
Authors: Tsoviyanov A. , Karev A. , Shinkarev S. , Korenkov I. , Samoylov A. , Stebelkov V. , Zhukov A. , Izmestyev K. , Terentiev S. 
Published: August 2020

Purpose: Study of physical and chemical properties of radioactive aerosols formed on the fabrication of mixed nitride uranium-plutonium (MNUP) fuel.
Material and methods: The following impactors were utilized for activity particle-size distribution analysis: AIP-2, PHRT, IRAM-2-4I (SRC FMBC), Andersen cascade impactor (Copley Scientific, UK), SKC Sioutas (SKC inc., USA). Scanning electron microscope (SEM) Tescan LYRA-3 equipped the X-ray microanalyzer X-max 80 (Oxford Instruments) was used for study of morphological characteristics of aerosol particles. Secondary ion-mass spectrometer Cameca IMS-1280 and track analysis were used for search of particles containing the uranium and plutonium radionuclides.
Results: Values of AMAD (Σa) vary from 12 µm till 30 µm, for 239Pu – from 14 till 27 µm. Lowest AMAD values (0.4–2.5 µm for 239Pu) were found in the repair area near the glove box of synthesis and sintering. The samples contain a much larger number of uranium-containing particles, which is likely due to a larger mass fraction of uranium oxide compared with plutonium dioxide in the initial mixture of reagents. Elemental composition of aerosol particles includes U (63–86 %), Pu (5–10 %) and О (9–47 %), Fe – in some samples till 32 %. Other elements like Nа, S, N, Р are contained in rather lowest amounts not exceeding 1–8 %. Only one nitrogen-containing particle was found (3 % of N).
Conclusion: Coarse fraction of radioactive aerosols makes a major contribution in activity concentration in air of the operator zone which is driven by such operations as pressing and crushing. Aerosol particles are presented as individual particles or dense aggregates by size of 0,2– 2 µm and also as conglomerates by size 0,5–4 µm consisting of oxides (or carbides) of silicon, iron, calcium, etc. containing inclusions (200–400 nm) or individual particles (20–200 nm) of mixed U-Pu oxide or uranium oxide on the surface of conglomerate as well aslocated in the near-surface layers inside.
The STAK tool: evaluation of a new device to treat arthrofibrosis and poor range of movement following total knee arthroplasty and major knee surgery
Authors: Aspinall Sara K. , Wheeler Patrick C. , Godsiff Steven P. , Hignett Sue M. , Fong Daniel T. P. 
Published: August 2020

Aims This study aims to evaluate a new home medical stretching device called the Self Treatment Assisted Knee (STAK) tool to treat knee arthrofibrosis. Methods 35 patients post-major knee surgery with arthrofibrosis and mean range of movement (ROM) of 68° were recruited. Both the STAK intervention and control group received standard physiotherapy for eight weeks, with the intervention group additionally using the STAK at home. The Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) and Oxford Knee Scores (OKS) were collected at all timepoints. An acceptability and home exercise questionnaire capturing adherence was recorded after each of the interventions. Results Compared to the control group, the STAK intervention group made significant gains in mean ROM (30° versus 8°, p < 0.0005), WOMAC (19 points versus 3, p < 0.0005), and OKS (8 points versus 3, p < 0.0005). The improvements in the STAK group were maintained at long-term follow-up. No patients suffered any complications relating to the STAK, and 96% of patients found the STAK tool ‘perfectly acceptable’. Conclusion The STAK tool is effective in increasing ROM and reducing pain and stiffness. Patients find it acceptable and adherence to treatment was high. This study indicates that the STAK tool would be of benefit in clinical practice and may offer a new, cost-effective treatment for arthrofibrosis. Cite this article: Bone Joint Open 2020;1-8:465–473.
Safety evaluation of a strategy to restart elective orthopaedic surgery during the de-escalation phase of the COVID-19 pandemic
Authors: Zahra Wajiha , Dixon Joseph W. , Mirtorabi Negin , Rolton Daniel J. , Tayton Edward R. , Hale Peter C. , Fisher Warren J. , Barnes Richard J. , Tunstill Simon A. , Iyer Shabnam , Pollard Tom C. B. 
Published: August 2020

Aims To evaluate safety outcomes and patient satisfaction of the re-introduction of elective orthopaedic surgery on ‘green’ (non-COVID-19) sites during the COVID-19 pandemic. Methods A strategy consisting of phased relaxation of clinical comorbidity criteria was developed. Patients from the orthopaedic waiting list were selected according to these criteria and observed recommended preoperative isolation protocols. Surgery was performed at green sites (two local private hospitals) under the COVID-19 NHS contract. The first 100 consecutive patients that met the Phase 1 criteria and underwent surgery were included. In hospital and postoperative complications with specific enquiry as to development of COVID-19 symptoms or need and outcome for COVID-19 testing at 14 days and six weeks was recorded. Patient satisfaction was surveyed at 14 days postoperatively. Results There were 54 females and 46 males (mean age 44 years, mean body mass index (BMI) 25.6 kg/m2). In all, 56 patients underwent major orthopaedic procedures. There were no exclusions. One patient had a postoperative positive SARS-CoV-2 RT-PCR test but had no typical symptoms of COVID-19 infection and no clinical sequelae. 99% of patients were satisfied with the process and 98% would recommend undergoing elective orthopaedic surgery in the study period. Conclusion In an environment with appropriate infrastructure, patient selection, isolation, screening, and testing, elective orthopaedic surgery is safe during the COVID-19 pandemic, and associated with high patient satisfaction. Further follow-up is required to establish that safety is maintained as the clinical restrictions are eased with the phased approach described. Cite this article: Bone Joint Open 2020;1-8:450–456.