Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities.

PURPOSE: Pulmonary disease is the major cause of morbidity and mortality in osteogenesis imperfecta (OI). We investigated the contribution of intrinsic lung factors to impaired pulmonary function in children and young adults with OI types III, IV, VI. METHODS: Patients with type III (n=8), IV (n=21), VI (n=5), VII (n=2) or XIV (n=1) OI (mean age 23.6 years) prospectively underwent pulmonary function tests (PFTs) and thoracic CT and radiographs. RESULTS: PFT results were similar using arm span or ulnar length as height surrogates. PFTs were significantly lower in type III than type IV or VI OI. All patients with type III and half of type IV OI had lung restriction; 90% of patients with OI had reduced gas exchange. Patients with COL1A1 variants had significantly lower forced expiratory flow (FEF)25%-75% compared with those with COL1A2 variants. PFTs correlated negatively with Cobb angle or age. CT scans revealed small airways bronchial thickening (100%, 86%, 100%), atelectasis (88%, 43%, 40%), reticulations (50%, 29%, 20%), ground glass opacities (75%, 5%, 0%), pleural thickening (63%, 48%, 20%) or emphysema (13%, 19%, 20%) in type III, IV or VI OI, respectively. CONCLUSION: Both lung intrinsic and extrinsic skeletal abnormalities contribute to OI pulmonary dysfunction. Most young adult patients have restrictive disease and abnormal gas exchange; impairment is greater in type III than type IV OI. Decreased FEF25%-75% and thickening of small bronchi walls indicate a critical role for small airways. Lung parenchymal abnormalities (atelectasis, reticulations) and pleural thickening were also detected. Clinical interventions to mitigate these impairments are warranted. TRIAL REGISTRATION NUMBER: NCT03575221.

The effect of a telehealth exercise intervention on balance in adults with Down syndrome.

BACKGROUND: People with Down syndrome often present with balance deficits, which compromise safety during daily activity. While evidence shows that exercise can improve balance in the Down syndrome population, it is unclear if a telehealth method will elicit similar benefits. We aimed to examine the effects of a virtual exercise program on balance in adults with Down syndrome. METHODS: Eighteen low-active participants with Down syndrome completed a 12-week telehealth exercise program based on the Mann Method. Balance testing took place before and after the intervention, which included: TUG, MCTSIB, FICSIT-4, and FRT. This study was registered as a clinical trial on ClinicalTrials.gov, identifier: NCT04647851. RESULTS: Significant improvement was seen in the TUG (p = .043), FICSIT-4 (p = .019) and FRT (p = .019). All participants achieved maximum scores on the MCTSIB in pre- and post-testing. CONCLUSIONS: Balance in low-active adults with Down syndrome significantly improved following the telehealth exercise program, which we attribute to the tailored exercises that address visual/vestibular deficits and hip muscle weakness.

Recovery of Critical Metals from Aqueous Sources.

Critical metals, identified from supply, demand, imports, and market factors, include rare earth elements (REE), platinum group metals, precious metals, and other valuable metals such as lithium, cobalt, nickel, and uranium. Extraction of metals from U.S. saline aqueous, emphasizing saline, sources is explored as an alternative to hardrock ore mining. Potential aqueous sources include seawater, desalination brines, oil-and-gas produced waters, geothermal aquifers, and acid mine drainage, among others. A feasibility assessment reveals opportunities for recovery of lithium, strontium, magnesium, and several REE from select sources, in quantities significant for U.S. manufacturing and for reduction of U.S. reliance on international supply chains. This is a conservative assessment given that water quality data are lacking for a significant number of critical metals in certain sources. The technology landscape for extraction and recovery of critical metals from aqueous sources is explored, identifying relevant processes along with knowledge gaps. Our analysis indicates that aqueous mining would result in much lower environmental impacts on water, air, and land than ore mining. Preliminary assessments of the economics and energy consumption of recovery show potential for recovery of critical metals.

Compact integrated optical sensors and electromagnetic actuators for vibration isolation systems in the gravitational-wave detector KAGRA.

This paper reports on the design and characteristics of a compact module integrating an optical displacement sensor and an electromagnetic actuator for use with vibration-isolation systems installed in KAGRA, the 3-km baseline gravitational-wave detector in Japan. In the technical concept, the module belongs to a family tree of similar modules used in other interferometric gravitational-wave detector projects. After the initial test run of KAGRA in 2016, the sensor part, which is a type of slot sensor, was modified by increasing the spacing of the slot from 5 mm to 15 mm to avoid the risk of mechanical interference with the sensor flag. We confirm that the sensor performance is comparable to that of the previous design despite the modification. We also confirm that the sensor noise is consistent with the theoretical noise budget. The noise level is 0.5 nm/Hz1/2 at 1 Hz and 0.1 nm/Hz1/2 at 10 Hz, and the linear range of the sensor is 0.7 mm or more. We measured the response of the actuator to be 1 N/A and also measured the resistances and inductances of coils of the actuators to confirm consistency with theory. Coupling coefficients among the different degrees of freedom were also measured and shown to be negligible, varying little between designs. A potential concern about thermal noise contribution due to eddy current loss is discussed. As of 2020, 42 of the modules are in operation at the site.

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

OBJECTIVE: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs). METHODS: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts. RESULTS: Total MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed. CONCLUSION: Results of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.

Uptake and Fractionation of Thallium by Brassica juncea in a Geogenic Thallium-Amended Substrate.

This study shows thallium (Tl) concentrations in Brassica juncea (Indian mustard) tissue are more than an order of magnitude higher (3830 µg/kg) than that of the substrate (100 µg/kg) and are strongly influenced by the underlying mineralogy; i.e., Tl bioaccessibility depends on the mineral structure: K-feldspar > Mn nodule > hendricksite mica. The majority of Tl for all substrates is contained in edible parts of the plant, i.e., leaves (41% of total Tl, on average) ≥ flower stems (34%) > seed pods (11%) ≈ stems (10%) > flowers (3%). We also show that Tl isotope fractionation induced by B. juncea is substantial, at nearly 10 ε205Tl units, and generates systematic plant-specific patterns. Progressive plant growth strongly fractionates Tl isotopes, discriminating against 205Tl as the plant matures. Thus, 205Tl values are systematically higher in the early formed stem (ε205Tlavg = +2.5) than in plant elements formed later (ε205Tlavg = -2.5 to +0.1), which demonstrates the large degree of translocation and the associated effects during plant growth. This study establishes the potential of Tl isotopes as a new tool for understanding heavy metal (re)distribution during anthropogenic and geologic processes and the utility of such information in environmental and health-related planning and in phytomining or bioprospecting.

Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin α2-related dystrophy.

BACKGROUND: Progressive, restrictive, respiratory insufficiency is the major cause of morbidity and mortality in Congenital Muscular Dystrophy (CMD). Nocturnal hypoventilation precedes daytime alveolar hypoventilation, and if untreated, may lead to respiratory failure and cor pulmonale. CMD consensus care guidelines recommend screening for respiratory insufficiency by conventional and dynamic (sitting to supine) pulmonary function testing (PFT) and evaluating for sleep disordered breathing if there is more than 20% relative reduction from sitting to supine FVC(L) (ΔFVC). OBJECTIVE: The objective of this retrospective study was to explore and characterize dynamic FVC measures in 51 individuals with two common subtypes of CMD, COL6-RD, and LAMA2-RD. METHODS: We compared sitting and supine FVC in patients with confirmed mutation(s) in either COL6 or LAMA2. We investigated influences of age, CMD subtype, gender, race, ambulatory status, and non-invasive positive pressure ventilation (NIPPV) status on FVC percent predicted (FVCpp) and ΔFVC. RESULTS: COL6-RD participants exhibited a significant difference between sitting and supine mean FVCpp (sitting 66.1, supine 55.1; P < 0.0001) and were 5.4 times more likely to have -ΔFVC >20% than those with LAMA2-RD when controlling for ambulant status. FVCpp sitting correlated inversely with age in individuals ≤18 years. CONCLUSION: FVCpp sitting decreases progressively in childhood in both CMD subtypes. However, our results point to a difference in diaphragmatic involvement, with COL6-RD individuals having more disproportionate diaphragmatic weakness than LAMA2-RD. A ΔFVC of greater than -20% should continue to be used to prompt evaluation of sleep-disordered breathing. Timely initiation of NIPPV may be indicated to treat nocturnal hypoventilation. Pediatr Pulmonol. 2017;52:524-532. © 2017 Wiley Periodicals, Inc.

Predator identity and time of day interact to shape the risk-reward trade-off for herbivorous coral reef fishes.

Non-consumptive effects (NCEs) of predators occur as prey alters their habitat use and foraging decisions to avoid predation. Although NCEs are recognized as being important across disparate ecosystems, the factors influencing their strength and importance remain poorly understood. Ecological context, such as time of day, predator identity, and prey condition, may modify how prey species perceive and respond to risk, thereby altering NCEs. To investigate how predator identity affects foraging of herbivorous coral reef fishes, we simulated predation risk using fiberglass models of two predator species (grouper Mycteroperca bonaci and barracuda Sphyraena barracuda) with different hunting modes. We quantified how predation risk alters herbivory rates across space (distance from predator) and time (dawn, mid-day, and dusk) to examine how prey reconciles the conflicting demands of avoiding predation vs. foraging. When we averaged the effect of both predators across space and time, they suppressed herbivory similarly. Yet, they altered feeding differently depending on time of day and distance from the model. Although feeding increased strongly with increasing distance from the predators particularly during dawn, we found that the barracuda model suppressed herbivory more strongly than the grouper model during mid-day. We suggest that prey hunger level and differences in predator hunting modes could influence these patterns. Understanding how context mediates NCEs provides insight into the emergent effects of predator-prey interactions on food webs. These insights have broad implications for understanding how anthropogenic alterations to predator abundances can affect the spatial and temporal dynamics of important ecosystem processes.

Characterization of the room temperature payload prototype for the cryogenic interferometric gravitational wave detector KAGRA.

KAGRA is a cryogenic interferometric gravitational wave detector currently under construction in the Kamioka mine in Japan. Besides the cryogenic test masses, KAGRA will also rely on room temperature optics which will hang at the bottom of vibration isolation chains. The payload of each chain comprises an optic, a system to align it, and an active feedback system to damp the resonant motion of the suspension itself. This article describes the performance of a payload prototype that was assembled and tested in vacuum at the TAMA300 site at the NAOJ in Mitaka, Tokyo. We describe the mechanical components of the payload prototype and their functionality. A description of the active components of the feedback system and their capabilities is also given. The performance of the active system is illustrated by measuring the quality factors of some of the resonances of the suspension. Finally, the alignment capabilities offered by the payload are reported.

Non-injected illicit drug use and infectious disease risk of donor tissue: a single institution retrospective review.

This study assessed the relationship of non-injected illicit drug use and infectious disease seropositivity for human immunodeficiency virus (HIV-1), hepatitis B virus (HBV), hepatitis C virus (HCV), and Syphilis. In a retrospective review of 986 donor charts recovered from 2009 to 2011 at a single tissue bank, the absence of reported non-injected illicit drug use corresponded with seropositivity in 6.61 %, of recovered donors while reported illicit drug use in the medical and social history corresponded with seropositivity in 11.25 %, representing a 70 % increased risk. There was no significant difference noted for overall seropositivity rates between types on noninjected illicit drugs, although donors that used cocaine had a higher incidence of HIV, while marijuana use was associated with a higher rate of HBV, HCV, and syphilis positivity. Toxicology screening results were not an accurate predictor of seropositivity (PPV = 3.77 %; NPV = 91.56 %). Further, the degree of relationship between the donor and the next of kin had no bearing on the veracity of actual drug use when comparing the response of the medical-social history and the toxicology screen.

Unplanned excision of soft-tissue sarcomas: current concepts for management and prognosis.

➤ Biopsy, staging, preoperative imaging and planning, as well as surgical treatment of soft-tissue sarcomas, are best carried out in specialized sarcoma centers, with the support of a multidisciplinary tumor board.➤ Tumor bed excision is recommended after most unplanned excisions, with a goal of obtaining complete tumor removal with an appropriately wide margin of resection.➤ The surgical resection area tends to be more extensive during tumor bed excision than during primary resection because of the need to resect potential areas of contamination, resulting in the need for more reconstructive procedures (flaps and skin grafts) and wider radiation fields.➤ Unplanned excisions are associated with an increased rate of local recurrence related to residual disease and positive margins after tumor bed excision, a deep location, and certain histologic subtypes, such as malignant peripheral nerve sheath tumor, myxofibrosarcoma, and dermatofibrosarcoma protuberans.➤ While adjuvant radiation therapy has not been found to mitigate the risk of local recurrence in unplanned excisions, it is generally utilized in the treatment of unplanned excisions as it is in the treatment of primary soft-tissue sarcomas.➤ Given the surgical and oncologic sequelae of unplanned excisions, prevention through the diffusion of concepts by means of provider education on how to approach soft-tissue masses, which can be potential soft-tissue sarcomas, is the best strategy.