Search

Airborne electromagnetic surveys collected in December 2011 and November 2018 and three soil sampling transects were used to analyze the spatial heterogeneity of shallow (<4 m) soil properties in lower Taylor Valley (TV), East Antarctica. Soil resistivities from 2011 to 2018 ranged from ∼33 Ωm to ∼3,500 Ωm with 200 Ωm assigned as an upper boundary for brine‐saturated sediments. Elevations below ∼50 m above sea level (masl) typically exhibit the lowest resistivities with resistivity increasing at high elevations on steeper slopes. Soil water content was empirically estimated from electrical resistivities using Archie's Law and range from ∼<1% to ∼68% by volume. An increase in silt‐ and clay‐sized particles at low elevations increases soil porosity but decreases hydraulic conductivity, promoting greater residence times of soil water at low elevations near Lake Fryxell. Soil resistivity variability between 2011 and 2018 shows soils at different stages of soil freeze‐thaw cycles, which are caused predominantly by solar warming of soils as opposed to air temperature. This study furthers the understanding of the hydrogeologic structure of the shallow subsurface in TV and identifies locations of soils that are potentially prone to greater rates of thaw and resulting ecosystem homogenization of soil properties from projected increases in hydrological connectivity across the region over the coming decades. Plain Language Summary: Liquid water is vital to all life on Earth; however, it is only available to life on land in Taylor Valley (TV), East Antarctica, during the brief Antarctic summer due to extremely cold and dry climate conditions. Water is released November‐February each year, providing nutrients to microbial and algal communities in the region. We used specialized instruments to locate liquid water in the subsurface and map soil water distributions to describe soil properties within TV in December 2011 and November 2018. Soil samples were collected to analyze how soil properties varied at different elevations and to determine how this variance affected soil water levels at different locations. Weather data were examined to study how climate variables affect soil water levels, and satellite imagery was used to examine snow conditions on the surface. We find that 2011 soils were typically wetter than 2018 soils, likely due to warmer climate conditions in 2011. Additionally, we found that low elevation soils were typically composed of finer‐grained sediments, which keep soil water in place for longer time periods. This research identifies areas more prone to thawing within the TV, which is important for understanding how soil organisms will be affected in a warming world. Key Points: McMurdo Dry Valleys soil properties are characterized using resistivity data from two airborne electromagnetic surveys from 2011 to 2018Soil water content in the shallow subsurface largely controls resistivity variabilityHigher percentages of silt‐ and clay‐sized particles at low elevations promote greater residence times of soil water [ABSTRACT FROM AUTHOR]

Lake Bonney (McMurdo Dry Valleys, east Antarctica) represents a year‐round refugium for life adapted to permanent extreme conditions. Despite intensive research since the 1960s, due to the logistical constraints posed by 4‐months of 24‐h darkness, knowledge of how the resident photosynthetic microorganisms respond to the polar winter is limited. In addition, the lake level has risen by more than 3 m since 2004: impacts of rapid lake level rise on phytoplankton community structure is also poorly understood. From 2004 to 2015 an in situ submersible spectrofluorometer (bbe FluoroProbe) was deployed in Lake Bonney during the austral summer to quantify the vertical structure of four functional algal groups (green algae, mixed algae, and cryptophytes, cyanobacteria). During the 2013–2014 field season the Fluoroprobe was mounted on autonomous cable‐crawling profilers deployed in both the east and west lobes of Lake Bonney, obtaining the first daily phytoplankton profiles through the polar night. Our findings showed that phytoplankton communities were differentially impacted by physical and chemical factors over long‐term versus seasonal time scales. Following a summer of rapid lake level rise (2010–2011), an increase in depth integrated chlorophyll a (chl‐a) occurred in Lake Bonney caused by stimulation of photoautotrophic green algae. Conversely, peaks in chl‐a during the polar night were associated with an increase in mixotrophic haptophytes and cryptophytes. Collectively our data reveal that phytoplankton groups possessing variable trophic abilities are differentially competitive during seasonal and long‐term time scales owing to periods of higher nutrients (photoautotrophs) versus light/energy limitation (mixotrophs). Key Points: A profiling fluorometer collected the first over‐winter daily phytoplankton profilesPhytoplankton communities were differentially impacted by physical and chemical factors over long‐term versus seasonal time scalesPhyoplankton groups are differentially competitive due to periods of higher nutrients versus light/energy limitation [ABSTRACT FROM AUTHOR]

Purpose: Although several metal artifact reduction (MAR) algorithms for computed tomography (CT) scanning are commercially available, no quantitative, rigorous, and reproducible method exists for assessing their performance. The lack of assessment methods poses a challenge to regulators, consumers, and industry. We explored a phantom‐based framework for assessing an important aspect of MAR performance: how applying MAR in the presence of metal affects model observer performance at a low‐contrast detectability (LCD) task This work is, to our knowledge, the first model observer–based framework for the evaluation of MAR algorithms in the published literature. Methods: We designed a numerical head phantom with metal implants. In order to incorporate an element of randomness, the phantom included a rotatable inset with an inhomogeneous background. We generated simulated projection data for the phantom. We applied two variants of a simple MAR algorithm, sinogram inpainting, to the projection data, that we reconstructed using filtered backprojection. To assess how MAR affected observer performance, we examined the detectability of a signal at the center of a region of interest (ROI) by a channelized Hotelling observer (CHO). As a figure of merit, we used the area under the ROC curve (AUC). Results: We used simulation to test our framework on two variants of the MAR technique of sinogram inpainting. We found that our method was able to resolve the difference in two different MAR algorithms' effect on LCD task performance, as well as the difference in task performances when MAR was applied, vs not. Conclusion: We laid out a phantom‐based framework for objective assessment of how MAR impacts low‐contrast detectability, that we tested on two MAR algorithms. Our results demonstrate the importance of testing MAR performance over a range of object and imaging parameters, since applying MAR does not always improve the quality of an image for a given diagnostic task. Our framework is an initial step toward developing a more comprehensive objective assessment method for MAR, which would require developing additional phantoms and methods specific to various clinical applications of MAR, and increasing study efficiency. [ABSTRACT FROM AUTHOR]

Background and purpose: Impaired bulbar functions of speech and swallowing are among the most serious consequences of amyotrophic lateral sclerosis (ALS). Despite this, clinical trials in ALS have rarely emphasized bulbar function as an endpoint. The rater‐administered Amyotrophic Lateral Sclerosis Functional Rating Scale‐Revised (ALSFRS‐R) or various quality‐of‐life measures are commonly used to measure symptomatic benefit. Accordingly, we sought to evaluate the utility of measures specific to bulbar function in ALS. Methods: We assessed bulbar functions in 120 patients with ALS, with clinicians first making direct observations of the degree of speech, swallowing and salivation impairment in these subjects. Clinical diagnosis of bulbar impairment was then compared with ALSFRS‐R scores, speech rate, time to swallow liquids and solids, and scores obtained when patients completed visual analog scales (VASs) and the newly‐developed 21‐question self‐administered Center for Neurologic Study Bulbar Function Scale (CNS‐BFS). Results: The CNS‐BFS, ALSFRS‐R, VAS and timed speech and swallowing were all concordant with clinician diagnosis. The self‐report CNS‐BFS and ALSFRS‐R bulbar subscale best predicted clinician diagnosis with misclassification rates of 8% and 14% at the optimal cut‐offs, respectively. In addition, the CNS‐BFS speech and swallowing subscales outperformed both the bulbar component of the ALSFRS‐R and speech and swallowing VASs when correlations were made between these scales and objective measures of timed reading and swallowing. Conclusions: Based on these findings and its relative ease of administration, we conclude that the CNS‐BFS is a useful metric for assessing bulbar function in patients with ALS. [ABSTRACT FROM AUTHOR]

Summary: The palatable, energy‐dense foods that characterize modern environments can promote unhealthy eating habits, along with humans' predispositions to accept sweet tastes and reject those that are sour or bitter. Yet food preferences are malleable, and examining food preference learning during early life can highlight ways to promote acceptance of healthier foods. This narrative review describes research from the past 10 years focused on food preference learning from the prenatal period through early childhood (ages 2–5 years). Exposure to a variety of healthy foods from the start, including during the prenatal period, early milk‐feeding and the introduction to complementary foods and beverages, can support subsequent acceptance of those foods. Yet development is plastic, and healthier food preferences can still be promoted after infancy. In early childhood, research supports starting with the simplest strategies, such as repeated exposure and modelling, reserving other strategies for use when needed to motivate the initial tasting necessary for repeated exposure effects to begin. This review can help caregivers and practitioners to promote the development of healthy food preferences early in life. Specific implementation recommendations, the role of individual differences and next steps for research in this area are also discussed. [ABSTRACT FROM AUTHOR]

Implementation of pharmacogenetic-guided warfarin dosing has been hindered by inconsistent results from reported clinical trials and a lack of available algorithms that include alleles prevalent in non-white populations. However, current evidence indicates that algorithm-guided dosing is more accurate than empirical dosing. To facilitate multiethnic algorithm-guided warfarin dosing using preemptive genetic testing, we developed a strategy that accounts for the complexity of race and leverages electronic health records for algorithm variables and deploying point-of-care dose recommendations. [ABSTRACT FROM AUTHOR]

Aims To summarize evidence from and assess the quality of published systematic reviews evaluating the safety, efficacy and effectiveness of incretin-based medications used in the treatment of type 2 diabetes. Methods We identified systematic reviews of randomized controlled trials or observational studies published in any language that evaluated the safety and/or effectiveness of glucagon-like peptide-1 ( GLP-1) receptor agonists or dipeptidyl-peptidase-4 ( DPP-4) inhibitors. Data sources used include the Cochrane Library, PubMed, EMBASE, Web of Science, International Pharmaceutical Abstracts, table of contents of diabetes journals, and hand-searching of reference lists and clinical practice guidelines. The methodological quality of systematic reviews was independently assessed by two reviewers using the Assessment of Multiple Systematic Reviews ( AMSTAR) checklist. Our study protocol was registered with PROSPERO (2013: CRD42013005149). The primary outcomes were pooled treatment effect estimates for glycaemic control, macrovascular and microvascular complications, and hypoglycaemic events. Results We identified 467 unique citations of which 84 systematic reviews met our inclusion criteria. There were 51 reviews that evaluated GLP-1 receptor agonists and 64 reviews that evaluated DPP-4 inhibitors. The median (interquartile range) AMSTAR score was 6 (3) out of 11 for quantitative and 1 (1) for non-quantitative reviews. Among the 66 quantitative systematic reviews, there were a total of 718 pooled treatment effect estimates reported for our primary outcomes and 1012 reported pooled treatment effect estimates for secondary outcomes. Conclusions Clinicians and policy makers, when using the results of systematic reviews to inform decision-making with regard to round clinical care or healthcare policies for incretin-based medications, should consider the variability in quality of reviews. [ABSTRACT FROM AUTHOR]

Late blight, caused by Phytophthora infestans, has emerged as the most destructive disease of potato and tomato in South India since 2008. One hundred and fifty-seven isolates of Phytophthora infestans, 63 from potato and 94 from tomato, were collected from major potato and tomato production areas of South India between 2010 and 2012. Their phenotypic and genotypic characteristics were determined and compared with reference isolates. Isolates were characterized based on mating type, in vitro metalaxyl sensitivity, mitochondrial DNA haplotype, RG57 DNA fingerprinting patterns, SSR markers and aggressiveness on potato and tomato, in order to monitor population changes in P. infestans. All isolates were A2 mating type, metalaxyl resistant, mt DNA haplotype Ia and had RG57 and SSR fingerprints almost identical to the 13_A2 clonal lineage reported in Europe. Variation at the D13 and SSR4 loci allowed discrimination of minor variants, designated as 13_A2_3, 13_A2_3b, 13_A2_3c and 13_A2_1. A comparison of the lesion diameters caused by 157 isolates on detached leaflets of three potato and tomato cultivars showed all isolates to be equally aggressive, confirming that the same clonal population is infecting both hosts. This study demonstrates that the 13_A2 lineage was responsible for severe late blight outbreaks on potato and tomato in South India and has replaced the prior population represented by the US-1 and other genotypes. Revised management strategies will be required to combat this destructive 13_A2 clonal lineage and monitoring of the population across other potato- and tomato-growing regions of India is warranted. [ABSTRACT FROM AUTHOR]

Purpose: Iterative reconstruction (IR) algorithms have the potential to reduce radiation dose in CT diagnostic imaging. As these algorithms become available on the market, a standardizable method of quantifying the dose reduction that a particular IR method can achieve would be valuable. Such a method would assist manufacturers in making promotional claims about dose reduction, buyers in comparing different devices, physicists in independently validating the claims, and the United States Food and Drug Administration in regulating the labeling of CT devices. However, the nonlinear nature of commercially available IR algorithms poses challenges to objectively assessing image quality, a necessary step in establishing the amount of dose reduction that a given IR algorithm can achieve without compromising that image quality. This review paper seeks to consolidate information relevant to objectively assessing the quality of CT IR images, and thereby measuring the level of dose reduction that a given IR algorithm can achieve. Methods: The authors discuss task-based methods for assessing the quality of CT IR images and evaluating dose reduction. Results: The authors explain and review recent literature on signal detection and localization tasks in CT IR image quality assessment, the design of an appropriate phantom for these tasks, possible choices of observers (including human and model observers), and methods of evaluating observer performance. Conclusions: Standardizing the measurement of dose reduction is a problem of broad interest to the CT community and to public health. A necessary step in the process is the objective assessment of CT image quality, for which various task-based methods may be suitable. This paper attempts to consolidate recent literature that is relevant to the development and implementation of task-based methods for the assessment of CT IR image quality. [ABSTRACT FROM AUTHOR]

The present research program has studied the fracture properties of closed pore metal-ceramic foams for their potential applications as core systems in sandwich structures. The composite foams were created at Fireline, Inc. (Youngstown, OH) using their TCON process. The microstructure and mechanical properties of two different composite foams were investigated. It has been observed that the TCON foam with a higher metallic phase by volume had better fracture properties. The investigated foam systems were also bonded between two skin materials constituted by alternating layers of thermoplastic composite and aluminum, in order to manufacture a hybrid sandwich structure. It was found that the low velocity impact properties of the sandwich structures were superior to those displayed by their constituent materials. [ABSTRACT FROM AUTHOR]

The exponential rise in genomics research over the past decade has yielded a growing number of sequence variants associated with medication response that may have clinical utility. Despite existing barriers, attention is turning to strategies that integrate these data into clinical care. The CLIPMERGE PGx Program is establishing a best‐practices infrastructure for the implementation of genome‐informed prescribing using a biobank‐derived clinical cohort, preemptive genetic testing, and real‐time clinical decision support deployed through the electronic health record. Clinical Pharmacology & Therapeutics (2013); 94 2, 214–217. doi:10.1038/clpt.2013.72 [ABSTRACT FROM AUTHOR]

We report stock composition estimates for immature (ocean-age .1 and .2) sockeye salmon distributed across the Bering Sea in late summer and fall. We establish a baseline data set composed of single-nucleotide polymorphism markers that can achieve very high accuracies in identifying sockeye salmon stocks from throughout their range in Asia and North America. We demonstrate the capabilities of this data set to address high-seas salmon issues by analyzing samples collected by researchers from Russia, Japan, and the United States during late summer and fall 2002-2004 as part of the Bering-Aleutian Salmon International Survey. According to our findings, (1) Gulf of Alaska (GOA) stocks formed a significant portion of the immature sockeye salmon migrating in the eastern and central Bering Sea in summer and fall, and western GOA stocks had a broader distribution in the Bering Sea than eastern GOA stocks; (2) Asian stocks migrated as far east as the western Aleutian Islands and the Donut Hole area (international waters in the center of the Bering Sea); and (3) Bristol Bay stocks were the most widely distributed, accounting for more than one-half of the mixtures in all areas except the central and southern areas of the Russian Exclusive Economic Zone (REEZ) in the western Bering Sea and north of the western Aleutian Islands. These results provide a significant increase in our knowledge of the distribution of sockeye salmon, firmly establishing that the REEZ is a summer-fall feeding area for immature North American sockeye salmon, particularly stocks of southeastern Bristol Bay origin. Bristol Bay sockeye salmon appear to enter and exit the REEZ primarily along a migration route that extends across the Aleutian Basin. Supplemental and are available online only. [ABSTRACT FROM AUTHOR]

The effects of climate events on the feeding ecology and trophic dynamics of Pacific salmon ( Oncorhynchus spp.) in offshore waters of the central Gulf of Alaska were investigated during early summers (1994–2000), based on analyses of stomach contents, and carbon and nitrogen stable isotopes ( δ13C and δ15N). Gonatid squids (mainly Berryteuthis anonychus) were the dominant prey of all salmon species except for chum salmon ( O. keta). During the 1997 El Niño event and the 1999 La Niña event, squids decreased sharply in the diets of all Pacific salmon except coho salmon ( O. kisutch) in the Subarctic Current, and chum salmon diets changed from gelatinous zooplankton (1995–97) to a more diverse array of zooplankton species. A δ13C and δ15N analysis indicated that all salmon species occupied the same branch of the food web in 1999–2000. We hypothesize that high-seas salmon adapt to climate-induced changes in their prey resources by switching their diets either within or between trophic levels. To understand the effects of climate change on Pacific salmon in the Gulf of Alaska, biological oceanographic research on B. anonychus and other important prey resources is needed. [ABSTRACT FROM AUTHOR]

Abstract The importance of interspecific competition as a mechanism regulating population abundance in offshore marine communities is largely unknown. We evaluated offshore competition between Asian pink salmon and Bristol Bay (Alaska) sockeye salmon, which intermingle in the North Pacific Ocean and Bering Sea, using the unique biennial abundance cycle of Asian pink salmon from 1955 to 2000. Sockeye salmon growth during the second and third growing seasons at sea, as determined by scale measurements, declined significantly in odd-numbered years, corresponding to years when Asian pink salmon are most abundant. Bristol Bay sockeye salmon do not interact with Asian pink salmon during their first summer and fall seasons and no difference in first year scale growth was detected. The interaction with odd-year pink salmon led to significantly smaller size at age of adult sockeye salmon, especially among younger female salmon. Examination of sockeye salmon smolt to adult survival rates during 1977–97 indicated that smolts entering the ocean during even-numbered years and interacting with abundant odd-year pink salmon during the following year experienced 26% (age-2 smolt) to 45% (age-1 smolt) lower survival compared with smolts migrating during odd-numbered years. Adult sockeye salmon returning to Bristol Bay from even-year smolt migrations were 22% less abundant (reduced by 5.9 million fish per year) compared with returns from odd-year migrations. The greatest reduction in adult returns occurred among adults spending 2 compared with 3 years at sea. Our new evidence for interspecific competition highlights the need for multispecies, international management of salmon production, including salmon released from hatcheries into the ocean. [ABSTRACT FROM AUTHOR]

This study examined metabolic interactions between two nutrients-ethanol and carbohydrate. Both nutrients are metabolized by a common pathway to fatty acids from acetyl-coenzyme A by lipogenic enzymes. The effects of ethanol and carbohydrate on the induction of lipogenic enzymes in livers of rats were examined using two types of base diets differing in carbohydrate and lipid content and using isocaloric substitutions of ethanol, carbohydrate, and fat. Three nonlipogenic enzymes were used for comparison. lsocaloric substitution of both fat and carbohydrate for ethanol was necessary to show the specific effects of alcohol on the activity of lipogenic or nonlipogenic enzymes. Carbohydrate, and not ethanol, induced lipogenic enzymes. Ethanol specifically reduced the activity of lactate dehydrogenase and malic enzyme, but did not affect those of alcohol dehydrogenase or glycerol 3-phosphate dehydrogenase. Ethanol interacted with carbohydrate to increase the activity of ATP citrate lyase. In addition, we studied the effects of ethanol and different kinds of carbohydrates on the growth of rats and on the morphology of their livers and intestines. Ethanol significantly decreased growth characteristics (weight gain, growth rate, and caloric efficiency). Fructose, either as a monosaccharide or in sucrose, decreased this alcohol effect. Sucrose was better than glucose in lowering lipid accumulation in livers of rats. Fragility of intestinal villi was found with an alcohol, low carbohydrate diet, but was not present in alcohol diets with a higher level of carbohydrate. In contrast to carbohydrate, ethanol lacked some characteristics of a nutrient, namely, it did not induce some enzymes involved in its metabolism and did not promote optimum growth. [ABSTRACT FROM AUTHOR]

The value of integrated land (landscape) classification for the management of wildlife communities was tested by measurement of distribution patterns of eight vertebrate species, using indices derived from transect counts of animals and their signs. Highly significant relationships between animal distribution patterns and objective classification of landscape and seasons were demonstrated. Highest densities of animals occurred near borders of land systems. Methods used highlighted critical areas and yielded, rapidly and economically, information vital for sound management and establishment of national parks. Dangers to the ecological viability of the Parque Nacional de Doñana include overgrazing by non-indigenous species within the Park and development outside the Park of properties formerly acting as buffer zones. [ABSTRACT FROM AUTHOR]

The distribution pattern of the European wild rabbit in the Reserva Biologica de Doñana is described in relation to an objective landscape analysis of the study area. The landscape consists of three principal sand dune land systems, the youngest of which is till forming, lying between the Atlantic Ocean and the alluvial deltaic plain of the Rio Guadalquivir, Las Marismas. The climate is one of hot dry summers and mild wet winters. Las Marismas and smaller border areas of the sandy land systems form seasonal marshes each winter. Rabbits are distributed discontinuously and are concentrated near moist grassland areas near borders of land systems. Detailed distribution patterns in apparently favourable and unfavourable areas showed that rabbits thrive best where sand ridges suitable for warren building interdigitate or abut moist feeding grounds. It is suggested that the dynamics of distribution and numbers superimposed on objective landscape analysis allows sensible wildlife management decisions to be taken in the absence of more detailed parametric study. [ABSTRACT FROM AUTHOR]

Evaluates a method of rabbit control by destruction of warrens in semi-arid regions in New South Wales. Site description; Warren locations; Effectiveness of the method.

Investigates the variations in temperature and humidity in burrows in rabbit warrens located in semi-arid habitats. Use of Wallac thermo-hygrometer; Placement of temperature and humidity sensors into the burrows; Examination for the footprints and fresh dung of rabbits on the warrens.

Measures the relationship between the crude quality of food ingested and the quality of food in the anterior portion of the stomach in wild rabbits in Australia. Prediction of the quality of food eaten by rabbits from the quality of recently ingested food in the anterior portion of the stomach; Methods used in identifying dry matter intake in macropod marsupials; Relationship of the changes in food quality with changes in the climate.

Studies the effects of a severe drought on the morphology of the adrenal glands and other indices of health in the red kangaroo Megaleia rufa in north-western New South Wales. Decrease in body weight in adult kangaroos affected by drought; Description of the adrenal glands removed from femal red kangaroos; Affirmation that anoestrous female red kangaroos suckling small young may be better adapted to withstand drought than males.

The article focuses on the study of three populations of wild rabbit confined with large enclosures to determine various aspects of rabbit biology. The influence which rabbits exert on pastures has received limited attention from Australian workers, despite of its well-documented evidence published by British workers which showed damage pastures brought by rabbits. The study started in July 1957 in the three tow acre enclosures with tree densities of rabbit populations. Moreover, several studies reveal the harmful effects of rabbits on every class of habitat which they inhabit from alpine to semi-arid regions. In addition, rabbits seems to be more competent than sheep in selecting pastures for food.

Relative polycythaemia refers to raised haematocrit with normal red cell mass. Plasma volume may be reduced. This condition is associated with acute hypoxia, smoking, alcohol and diuretics. We describe two life-threatening thrombotic events in two patients with relative polycythaemia under age 40 years. The first had myocardial infarction and on admission haemoglobin was 21.6 g dL-1. The second developed pulmonary embolism and haemoglobin was 19.1 g dL-1. Both patients received antithrombotic measures and isovolumetric venesection. Sixteen patients (age <40 years) who attended our accident and emergency department in 1 year had a haemoglobin level of >18.0 g dL-1. Recognition of relative polycythaemia in at risk-individuals may help reduce thrombotic risk. [ABSTRACT FROM AUTHOR]

Vascular Ehlers-Danlos, Marfan and Loeys-Dietz syndromes have increased risk of aortic dilation and dissection. Previous early studies showed hypermobile Ehlers-Danlos syndrome (hEDS) may also have increased risk, with echocardiography screening recommended; subsequent studies have not confirmed the risk or recommended echocardiography. This pediatric-based study assessed aortic dilation prevalence in those with hEDS by serial echocardiographic examinations and assessed family history for aortic dissections. We retrospectively identified individuals with hEDS who had echocardiography studies from the electronic medical records at one pediatric center. Aortic root Z-scores >2.0 were found in 15/225 subjects (average age 12.9 years) on initial echocardiograms, with no Z-score >3.0. Subsequent studies (n = 68) found statistically significant decline in aortic root Z-scores. Repeat echocardiography in those with initial aortic root Z-score >2.0 (n = 10) demonstrated a decline in Z score <2.0 in seven. On final examination, 9/225 (4.0%) had a Z-score >2.0, not statistically different from the general population. No aortic dissection occurred in first- or second-degree relatives. In conclusion, aortic root dilation rate in hEDS is likely not different from the general population. We propose that in the absence of other cardiac findings or suspicion for another disorder, echocardiography is not required in hEDS., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Background Homozygous familial hypercholesterolemia (HoFH) is a rare, treatment-resistant disorder characterized by early-onset atherosclerotic and aortic valvular cardiovascular disease if left untreated. Contemporary information on HoFH in the United States is lacking, and the extent of underdiagnosis and undertreatment is uncertain. Methods and Results Data were analyzed from 67 children and adults with clinically diagnosed HoFH from the CASCADE (Cascade Screening for Awareness and Detection) FH Registry. Genetic diagnosis was confirmed in 43 patients. We used the clinical characteristics of genetically confirmed patients with HoFH to query the Family Heart Database, a US anonymized payer health database, to estimate the number of patients with similar lipid profiles in a "real-world" setting. Untreated low-density lipoprotein cholesterol levels were lower in adults than children (533 versus 776 mg/dL; P =0.001). At enrollment, atherosclerotic cardiovascular disease and supravalvular and aortic valve stenosis were present in 78.4% and 43.8% and 25.5% and 18.8% of adults and children, respectively. At most recent follow-up, despite multiple lipid-lowering treatment, low-density lipoprotein cholesterol goals were achieved in only a minority of adults and children. Query of the Family Heart Database identified 277 individuals with profiles similar to patients with genetically confirmed HoFH. Advanced lipid-lowering treatments were prescribed for 18%; 40% were on no lipid-lowering treatment; atherosclerotic cardiovascular disease was reported in 20%; familial hypercholesterolemia diagnosis was uncommon. Conclusions Only patients with the most severe HoFH phenotypes are diagnosed early. HoFH remains challenging to treat. Results from the Family Heart Database indicate HoFH is systemically underdiagnosed and undertreated. Earlier screening, aggressive lipid-lowering treatments, and guideline implementation are required to reduce disease burden in HoFH.

The administration of intermittent parathyroid hormone (iPTH) is anabolic to the skeleton. Recent studies with cultured osteoblasts have revealed that the expression of PHOSPHO1, a bone-specific phosphatase essential for the initiation of mineralisation, is regulated by PTH. Therefore, this study sought to determine whether the bone anabolic response to iPTH involves modulation of expression of Phospho1 and of other enzymes critical for bone matrix mineralisation. To mimic iPTH treatment, primary murine osteoblasts were challenged with 50 nM PTH for 6 h in every 48 h period for 8 days (4 cycles), 14 days (7 cycles) and 20 days (10 cycles) in total. The expression of both Phospho1 and Smpd3 was almost completely inhibited after 4 cycles, whereas 10 cycles were required to stimulate a similar response in Alpl expression. To explore the in vivo role of PHOSPHO1 in PTH-mediated osteogenesis, the effects of 14- and 28-day iPTH (80 µg/kg/day) administration was assessed in male wild-type (WT) and Phospho1 -/- mice. The expression of Phospho1, Alpl, Smpd3, Enpp1, Runx2 and Trps1 expression was enhanced in the femora of WT mice following iPTH administration but remained unchanged in the femora of Phospho1 -/- mice. After 28 days of iPTH administration, the anabolic response in the femora of WT was greater than that noted in Phospho1 -/- mice. Specifically, cortical and trabecular bone volume/total volume, as well as cortical thickness, were increased in femora of iPTH-treated WT but not in iPTH-treated Phospho1 -/- mice. Trabecular bone osteoblast number was also increased in iPTH-treated WT mice but not in iPTH-treated Phospho1 -/-  mice. The increased levels of Phospho1, Alpl, Enpp1 and Smpd3 in WT mice in response to iPTH administration is consistent with their contribution to the potent anabolic properties of iPTH in bone. Furthermore, as the anabolic response to iPTH was attenuated in mice deficient in PHOSPHO1, this suggests that the osteoanabolic effects of iPTH are at least partly mediated via bone mineralisation processes., (© 2022 The Authors. Cell Biochemistry and Function published by John Wiley & Sons Ltd.)

Introduction: Medical education continues to diversify its settings. For postgraduate trainees, moving across diverse settings, especially community-based rotations, can be challenging personally and professionally. Competent performance is embedded in context; as a result, trainees who move to new contexts are challenged to use their knowledge, skills and experience to adjust. What trainees need to adapt to and what that requires of them are poorly understood. This research takes a capability approach to understand how trainees entering a new setting develop awareness of specific contextual changes that they need to navigate and learn from., Methods: We used constructivist grounded theory with in-depth interviews. A total of 29 trainees and recent graduates from three internal medicine training programmes in Canada participated. All participants had completed at least one community-based rotation geographically far from their home training site. Interviews were recorded, transcribed and anonymised. The interview framework was adjusted several times following initial data analysis., Results: Contextual competence results from trainees' ability to attend to five key stages. Participants had first to meet their physiological and practical needs, followed by developing a sense of belonging and legitimacy, which paved the way for a re-constitution of competence and appropriate autonomy. Trainee's attention to these stages of adaptation was facilitated by a process of continuously moving between using their knowledge and skill foundation and recognising where and when contextual differences required new learning and adaptations., Discussion: An ability to recognise contextual change and adapt accordingly is part of Nussbaum and Sen's concept of capability development. We argue this key skill has not received the attention it deserves in current training models and in the support postgraduate trainees receive in practice. Recommendations include supporting residents in their capability development by debriefing their experiences of moving between settings and supporting clinical teachers as they actively coach residents through this process., (© 2021 The Authors. Medical Education published by Association for the Study of Medical Education and John Wiley & Sons Ltd.)

Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS. Those conditions discussed in over half of the articles were prioritized for further review. Second, we performed detailed literature searches on these specific conditions. To inform the search strategy and review process a series of key questions were formulated a priori. The quality of available evidence was then graded and knowledge gaps were identified. The number of participating adults and the design of clinical studies varied by condition and were often inadequate for answering all of our key questions. We provide data on thyroid disease, cervical spine disease, hearing impairment, overweight-obesity, sleep apnea, congenital heart disease, and osteopenia-osteoporosis. Minimal evidence demonstrates massive gaps in our clinical knowledge that compromises clinical decision-making and management of these medically complex individuals. The development of evidence-based clinical guidance will require an expanded clinical knowledge-base in order to move forward., (© 2017 Wiley Periodicals, Inc.)

Aims: The NHS Stop Smoking Service (NHS-SSS) helps approximately half its clients to quit for 4 weeks. However, most initially successful quitters relapse within 6 months. Short message service (SMS) texting has been shown to facilitate stopping smoking. We describe the development, implementation and subsequent evaluation, in terms of practicability and client response, of an SMS text-based relapse prevention intervention (RPI) delivered within routine community and specialist National Health Service (NHS) Stop Smoking Service (SSS) provision in four Primary Care Trusts., Design: Text messages aimed at motivation to remain abstinent, preventing careless lapses and continuing the full course of medicine for smoking cessation were developed and sent weekly to clients' mobile phones for 12 weeks and fortnightly for 6 months. They were asked to respond to some of the texts and contact the NHS SSS if they lapsed. They were also offered free nicotine mini lozenges to be sent via the mail on three occasions., Setting: NHS SSS., Participants: 202 clients who had been abstinent for 4 weeks., Measurements: Feasibility of introducing RPI into routine care; response to interactive messages and requests for the medication; rating of the helpfulness of RPI; self-reported and carbon monoxide (CO)-validated smoking status for up to 26 weeks., Findings: A text-based RPI was easy to implement within the NHS SSS provided by specialist advisers, but enrollment of clients from services provided by a network of pharmacists was difficult because client contact details were often lacking. Where records of the number of people invited to RPI were available, 94% of eligible participants enrolled. The RPI was well received by both SSS clients and staff, with 70% (n = 63) of clients who completed follow-up considering the intervention helpful. Eighty-five per cent (n = 172) of clients responded to at least one of the nine interactive text messages. Sixty-four clients (32% of the total, 47% of those we managed to contact) reported continuous abstinence at 6 months. Eighteen (9%) clients who relapsed to smoking used the RPI to re-engage with the NHS SSS and 10 (5%) successfully re-established abstinence., Conclusions: In smokers attending National Health Service Stop Smoking Services who are abstinent 4 weeks after their quit date, a relapse prevention intervention based on SMS text messaging was well received, and can be implemented economically and rapidly. A controlled trial is needed to establish whether it has a significant impact on relapse., (© 2012 The Authors, Addiction © 2012 Society for the Study of Addiction.)

We evaluated 4 evidence-based interventions to increase compliance. Three children with autism who exhibited noncompliance when asked to relinquish a preferred toy were exposed sequentially to interventions that included a reduction in response effort, differential reinforcement, and guided compliance. Results indicated that effort reduction alone was ineffective and that each participant's compliance improved after exposure to a different intervention; these results highlight the need to individualize treatments for compliance.

After a 3-step guided compliance procedure (vocal prompt, vocal plus model prompt, vocal prompt plus physical guidance) did not increase compliance, we evaluated 2 modifications with 4 preschool children who exhibited noncompliance. The first modification consisted of omission of the model prompt, and the second modification consisted of omitting the model prompt and decreasing the interprompt interval from 10 s to 5 s. Each of the modifications effectively increased compliance for 1 participant. For the remaining 2 participants, neither modification was effective; differential reinforcement in the form of contingent access to a preferred edible item was necessary to increase compliance. Problem behavior varied across participants, but was generally higher during guided compliance conditions and lower during differential reinforcement conditions.

Unlabelled: Late-onset sepsis is a unique entity in the neonatal intensive care unit (NICU), as organisms involved are, by definition, nosocomial. As such, a limited number of microbes are characteristically involved. Leclercia adecarboxylata is a gram-negative bacillus rarely cultured in a clinical context, with the few published cases primarily involving immunocompromised adults. We present an ex-26-week newborn girl who developed late-onset sepsis with Leclercia adecarboxylata bacteraemia in the NICU. The infection was successfully treated with gentamicin and cefotaxime. This is the fifth paediatric report of Leclercia adecarboxylata infection, and the first in a neonate. The case raises the possibility that prior courses of antibiotics may have predisposed this individual to a rare infection essentially limited to immunocompromised individuals., Conclusion: Leclercia adecarboxylata is a rare infection, particularly in immunocompetent individuals. In neonates, the clinical course can be good with timely initiation of appropriate antibiotics., (© 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.)