Clinical, Molecular Characterization and Long-Term Follow-Up of a Patient with Neonatal Severe Hyperparathyroidism

Heterozygous inactivating pathogenic variants of the calcium-sensing receptor encoding gene cause autosomal dominant familial hypocalciuric hypercalcemia, whereas mutations that inactivate both alleles cause neonatal severe hyperparathyroidism, a rare and potentially fatal disease. We present the clinical and genetic characterization of a Portuguese family with familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism as well as the long-term follow-up of the proband. The newborn was admitted due to progressive hypotonia, feeding refusal, and dehydration. Serum calcium and parathormone levels were markedly increased. Radiological evaluation revealed osteopenia and several fractures. Total parathyroidectomy with the reimplantation of a quarter of one gland was performed. At 15 years old, she is clinically well, has normal calcium levels, and detectable parathormone values while under calcium and α-calcidiol treatment. Calcium-sensing receptor encoding gene sequencing revealed a germline homozygous nonsense pathogenic variant later confirmed as inherited.info:eu-repo/semantics/publishedVersio

The epidemiology of injuries across the weight-training sports

Background: Weight-training sports, including weightlifting, powerlifting, bodybuilding, strongman, Highland Games, and CrossFit, are weight-training sports that have separate divisions for males and females of a variety of ages, competitive standards, and bodyweight classes. These sports may be considered dangerous because of the heavy loads commonly used in training and competition. Objectives: Our objective was to systematically review the injury epidemiology of these weight-training sports, and, where possible, gain some insight into whether this may be affected by age, sex, competitive standard, and bodyweight class. Methods: We performed an electronic search using PubMed, SPORTDiscus, CINAHL, and Embase for injury epidemiology studies involving competitive athletes in these weight-training sports. Eligible studies included peer-reviewed journal articles only, with no limit placed on date or language of publication. We assessed the risk of bias in all studies using an adaption of the musculoskeletal injury review method. Results: Only five of the 20 eligible studies had a risk of bias score ≥75 %, meaning the risk of bias in these five studies was considered low. While 14 of the studies had sample sizes >100 participants, only four studies utilized a prospective design. Bodybuilding had the lowest injury rates (0.12–0.7 injuries per lifter per year; 0.24–1 injury per 1000 h), with strongman (4.5–6.1 injuries per 1000 h) and Highland Games (7.5 injuries per 1000 h) reporting the highest rates. The shoulder, lower back, knee, elbow, and wrist/hand were generally the most commonly injured anatomical locations; strains, tendinitis, and sprains were the most common injury type. Very few significant differences in any of the injury outcomes were observed as a function of age, sex, competitive standard, or bodyweight class. Conclusion: While the majority of the research we reviewed utilized retrospective designs, the weight-training sports appear to have relatively low rates of injury compared with common team sports. Future weight-training sport injury epidemiology research needs to be improved, particularly in terms of the use of prospective designs, diagnosis of injury, and changes in risk exposure

Single electron emission in two-phase xenon with application to the detection of coherent neutrino-nucleus scattering

We present an experimental study of single electron emission in ZEPLIN-III, a two-phase xenon experiment built to search for dark matter WIMPs, and discuss applications enabled by the excellent signal-to-noise ratio achieved in detecting this signature. Firstly, we demonstrate a practical method for precise measurement of the free electron lifetime in liquid xenon during normal operation of these detectors. Then, using a realistic detector response model and backgrounds, we assess the feasibility of deploying such an instrument for measuring coherent neutrino-nucleus elastic scattering using the ionisation channel in the few-electron regime. We conclude that it should be possible to measure this elusive neutrino signature above an ionisation threshold of $\sim$3 electrons both at a stopped pion source and at a nuclear reactor. Detectable signal rates are larger in the reactor case, but the triggered measurement and harder recoil energy spectrum afforded by the accelerator source enable lower overall background and fiducialisation of the active volume

Short-term efficacy of physical interventions in osteoarthritic knee pain. A systematic review and meta-analysis of randomised placebo-controlled trials.

BACKGROUND: Treatment efficacy of physical agents in osteoarthritis of the knee (OAK) pain has been largely unknown, and this systematic review was aimed at assessing their short-term efficacies for pain relief. METHODS: Systematic review with meta-analysis of efficacy within 1-4 weeks and at follow up at 1-12 weeks after the end of treatment. RESULTS: 36 randomised placebo-controlled trials (RCTs) were identified with 2434 patients where 1391 patients received active treatment. 33 trials satisfied three or more out of five methodological criteria (Jadad scale). The patient sample had a mean age of 65.1 years and mean baseline pain of 62.9 mm on a 100 mm visual analogue scale (VAS). Within 4 weeks of the commencement of treatment manual acupuncture, static magnets and ultrasound therapies did not offer statistically significant short-term pain relief over placebo. Pulsed electromagnetic fields offered a small reduction in pain of 6.9 mm [95% CI: 2.2 to 11.6] (n = 487). Transcutaneous electrical nerve stimulation (TENS, including interferential currents), electro-acupuncture (EA) and low level laser therapy (LLLT) offered clinically relevant pain relieving effects of 18.8 mm [95% CI: 9.6 to 28.1] (n = 414), 21.9 mm [95% CI: 17.3 to 26.5] (n = 73) and 17.7 mm [95% CI: 8.1 to 27.3] (n = 343) on VAS respectively versus placebo control. In a subgroup analysis of trials with assumed optimal doses, short-term efficacy increased to 22.2 mm [95% CI: 18.1 to 26.3] for TENS, and 24.2 mm [95% CI: 17.3 to 31.3] for LLLT on VAS. Follow-up data up to 12 weeks were sparse, but positive effects seemed to persist for at least 4 weeks after the course of LLLT, EA and TENS treatment was stopped. CONCLUSION: TENS, EA and LLLT administered with optimal doses in an intensive 2-4 week treatment regimen, seem to offer clinically relevant short-term pain relief for OAK

Small bowel enteroclysis with magnetic resonance imaging and computed tomography in patients with failed and uncertain passage of a patency capsule

<p>Abstract</p> <p>Background</p> <p>Video capsule enteroscopy (VCE) has revolutionized small bowel imaging, enabling visual examination of the mucosa of the entire small bowel, while MR enteroclysis (MRE) and CT enteroclysis (CTE) have largely replaced conventional barium enteroclysis. A new indication for MRE and CTE is the clinical suspicion of small bowel strictures, as indicated by delayed or non-delivery of a test capsule given before a VCE examination, to exclude stenosis. The aim of this study was to determine the clinical value of subsequent MRE and CTE in patients in whom a test capsule did not present itself in due time.</p> <p>Methods</p> <p>Seventy-five consecutive patients were identified with a delayed or unnoticed delivery of the test capsule. Seventy patients consented to participate and underwent MRE (44) or CTE (26). The medical records and imaging studies were retrospectively reviewed and symptoms, laboratory results and imaging findings recorded.</p> <p>Results</p> <p>Lesions compatible with Crohns disease were shown by MRE in 5 patients, by CTE in one and by VCE in four, one of whom had lesions on MRE. In patients without alarm symptoms and findings (weight loss, haematochezia, anaemia, nocturnal diarrheoa, ileus, fistula, abscess and abnormal blood tests) imaging studies did not unveil any such lesion. VCE's were performed in only 20 patients, mainly younger than 50 years of age, although no stenotic lesion was shown by MRE and CTE. In the remaining 50 patients no VCE or other endoscopic intervention was performed indicating that the referring physician was content with the diagnostic information from MRE or CTE.</p> <p>Conclusion</p> <p>The diagnostic value of MRE and CTE is sufficient for clinical management of most patients with suspected small bowel disease, and thus VCE may be omitted or at least postponed for later usage.</p

Sublethal toxicant effects with dynamic energy budget theory: model formulation

We develop and test a general modeling framework to describe the sublethal effects of pollutants by adding toxicity modules to an established dynamic energy budget (DEB) model. The DEB model describes the rates of energy acquisition and expenditure by individual organisms; the toxicity modules describe how toxicants affect these rates by changing the value of one or more DEB parameters, notably the parameters quantifying the rates of feeding and maintenance. We investigate four toxicity modules that assume: (1) effects on feeding only; (2) effects on maintenance only; (3) effects on feeding and maintenance with similar values for the toxicity parameters; and (4) effects on feeding and maintenance with different values for the toxicity parameters. We test the toxicity modules by fitting each to published data on feeding, respiration, growth and reproduction. Among the pollutants tested are metals (mercury and copper) and various organic compounds (chlorophenols, toluene, polycyclic aromatic hydrocarbons, tetradifon and pyridine); organisms include mussels, oysters, earthworms, water fleas and zebrafish. In most cases, the data sets could be adequately described with any of the toxicity modules, and no single module gave superior fits to all data sets. We therefore propose that for many applications, it is reasonable to use the most general and parameter sparse module, i.e. module 3 that assumes similar effects on feeding and maintenance, as a default. For one example (water fleas), we use parameter estimates to calculate the impact of food availability and toxicant levels on the long term population growth rate