We report a genome-wide association study to iron status. We identify an association of SNPs in TPMRSS6 to serum iron (rs855791, combined P = 1.5 × 10−20), transferrin saturation (combined P = 2.2 × ...10−23) and erythrocyte mean cell volume (MCV, combined P = 1.1 × 10−10). We also find suggestive evidence of association with blood hemoglobin levels (combined P = 5.3 × 10−7). These findings demonstrate the involvement of TMPRSS6 in control of iron homeostasis and in normal erythropoiesis.
Between 40% and 80% of the variation in human intelligence (IQ) is attributable to genetic factors. Except for many rare mutations resulting in severe cognitive dysfunction, attempts to identify ...these factors have not been successful. We report a genomewide linkage scan involving 634 sibling pairs designed to identify chromosomal regions that explain variation in IQ. Model-free multipoint linkage analysis revealed evidence of a significant quantitative-trait locus for performance IQ at 2q24.1-31.1 (LOD score 4.42), which overlaps the 2q21-33 region that has repeatedly shown linkage to autism. A second region revealed suggestive linkage for both full-scale and verbal IQs on 6p25.3-22.3 (LOD score 3.20 for full-scale IQ and 2.33 for verbal IQ), overlapping marginally with the 6p22.3-21.31 region implicated in reading disability and dyslexia.
Background
No standardized written or volumetric definition exists for ‘loss of domain’ (LOD). This limits the utility of LOD as a morphological descriptor and as a predictor of peri- and ...postoperative outcomes. Consequently, our aim was to establish definitions for LOD via consensus of expert abdominal wall surgeons.
Methods
A Delphi study involving 20 internationally recognized abdominal wall reconstruction (AWR) surgeons was performed. Four written and two volumetric definitions of LOD were identified via systematic review. Panelists completed a questionnaire that suggested these definitions as standardized definitions of LOD. Consensus on a preferred term was pre-defined as achieved when selected by ≥80% of panelists. Terms scoring <20% were removed.
Results
Voting commenced August 2018 and was completed in January 2019. Written definition: During Round 1, two definitions were removed and seven new definitions were suggested, leaving nine definitions for consideration. For Round 2, panelists were asked to select all appealing definitions. Thereafter, common concepts were identified during analysis, from which the facilitators advanced a new written definition. This received 100% agreement in Round 3. Volumetric definition: Initially, panelists were evenly split, but consensus for the Sabbagh method was achieved. Panelists could not reach consensus regarding a threshold LOD value that would preclude surgery.
Conclusions
Consensus for written and volumetric definitions of LOD was achieved from 20 internationally recognized AWR surgeons. Adoption of these definitions will help standardize the use of LOD for both clinical and academic activities.
ABSTRACT We present observations of a new phenomenon in pulsating white dwarf stars: large-amplitude outbursts at timescales much longer than the pulsation periods. The cool ( = 11,060 K), ...hydrogen-atmosphere pulsating white dwarf PG 1149+057 was observed nearly continuously for more than 78.8 day by the extended Kepler mission in K2 Campaign 1. The target showed 10 outburst events, recurring roughly every 8 day and lasting roughly 15 hr, with maximum flux excursions up to 45% in the Kepler bandpass. We demonstrate that the outbursts affect the pulsations and therefore must come from the white dwarf. Additionally, we argue that these events are not magnetic reconnection flares, and are most likely connected to the stellar pulsations and the relatively deep surface convection zone. PG 1149+057 is now the second cool pulsating white dwarf to show this outburst phenomenon, after the first variable white dwarf observed in the Kepler mission, KIC 4552982. Both stars have the same effective temperature, within the uncertainties, and are among the coolest known pulsating white dwarfs of typical mass. These outbursts provide fresh observational insight into the red edge of the DAV instability strip and the eventual cessation of pulsations in cool white dwarfs.
Soundscapes provide a new tool for the study of fish communities. Bigeyes (Pempheris adspersa) are nocturnal planktivorous reef fish, feed in loose shoals and are soniferous. These vocalisations have ...been suggested to be contact calls to maintain group cohesion, however direct evidence for this is absent, despite the fact that contact calls are well documented for many other vertebrates, including marine mammals. For fish, direct evidence for group cohesion signals is restricted to the use of visual and hydrodynamic cues. In support of adding vocalisation as a contributing cue, our laboratory experiments show that bigeyes significantly increased group cohesion when exposed to recordings of ambient reef sound at higher sound levels while also decreasing vocalisations. These patterns of behaviour are consistent with acoustic masking. When exposed to playback of conspecific vocalisations, the group cohesion and vocalisation rates of bigeyes both significantly increased. These results provide the first direct experimental support for the hypotheses that vocalisations are used as contact calls to maintain group cohesion in fishes, making fish the evolutionarily oldest vertebrate group in which this phenomenon has been observed, and adding a new dimension to the interpretation of nocturnal reef soundscapes.
Aims:
This study aimed at comparing several health outcomes in young adulthood among child refugees who settled in the different immigration and integration policy contexts of Denmark, Norway and ...Sweden.
Methods:
The study population included refugees born between 1972 and 1997 who immigrated before the age of 18 and settled in the three Nordic countries during 1986–2005. This population was followed up in national registers during 2006–2015 at ages 18–43 years and was compared with native-born majority populations in the same birth cohorts using sex-stratified and age-adjusted regression analyses.
Results:
Refugee men in Denmark stood out with a consistent pattern of higher risks for mortality, disability/illness pension, psychiatric care and substance misuse relative to native-born majority Danish men, with risk estimates being higher than comparable estimates observed among refugee men in Norway and Sweden. Refugee men in Sweden and Norway also demonstrated increased risks relative to native-born majority population men for inpatient psychiatric care, and in Sweden also for disability/illness pension. With the exception of increased risk for psychotic disorders, outcomes among refugee women were largely similar to or better than those of native-born majority women in all countries.
Conclusions:
The observed cross-country differences in health indicators among refugees, and the poorer health outcomes of refugee men in Denmark in particular, may be understood in terms of marked differences in Nordic integration policies. However, female refugees in all three countries had better relative health outcomes than refugee men did, suggesting possible sex differentials that warrant further investigation.
In this study, a novel technique using baited underwater video with infrared lighting was compared with traditional underwater census surveys to investigate fish populations
in situ. Fish abundance ...at the baited underwater video was related to the olfactory capability of each species. Olfactory specialists were shown to arrive at baited underwater video drops earlier, and in greater numbers, than non-olfactory species. This pattern was reversed in non-olfactory species, which were found to dominate underwater census surveys and appear less at baited underwater video drops. The sensory capacity of a species was found to be a larger determinant for fish abundance at baited underwater video drops than was the actual density of that species. The result of this study has ramifications for fish sampling techniques that use chemical stimuli to attract fish species, such as in the deep sea. The baited underwater video technique was highly effective at determining the diel activity of fish species.
► Identifies novel technique for investigating nocturnal fish
in situ. ► Modified baited underwater video ideal for determining fish diel activity patterns. ► Using chemical attractants in sampling design overestimates olfactory specialists.
Bariatric surgery remains the only effective and durable treatment option for morbid obesity. Vertical Sleeve Gastrectomy (VSG) is currently the most widely performed of these surgeries primarily ...because of its proven efficacy in generating rapid onset weight loss, improved glucose regulation and reduced mortality compared with other invasive procedures. VSG is associated with reduced appetite, however, the relative importance of energy expenditure to VSG-induced weight loss and changes in glucose regulation, particularly that in brown adipose tissue (BAT), remains unclear. The aim of this study was to investigate the role of BAT thermogenesis in the efficacy of VSG in a rodent model.
Diet-induced obese male Sprague–Dawley rats were either sham-operated, underwent VSG surgery or were pair-fed to the food consumed by the VSG group. Rats were also implanted with biotelemetry devices between the interscapular lobes of BAT to assess local changes in BAT temperature as a surrogate measure of thermogenic activity. Metabolic parameters including food intake, body weight and changes in body composition were assessed. To further elucidate the contribution of energy expenditure via BAT thermogenesis to VSG-induced weight loss, a separate cohort of chow-fed rats underwent complete excision of the interscapular BAT (iBAT lipectomy) or chemical denervation using 6-hydroxydopamine (6-OHDA). To localize glucose uptake in specific tissues, an oral glucose tolerance test was combined with an intraperitoneal injection of 14C-2-deoxy-d-glucose (14C-2DG). Transneuronal viral tracing was used to identify 1) sensory neurons directed to the stomach or small intestine (H129-RFP) or 2) chains of polysynaptically linked neurons directed to BAT (PRV-GFP) in the same animals.
Following VSG, there was a rapid reduction in body weight that was associated with reduced food intake, elevated BAT temperature and improved glucose regulation. Rats that underwent VSG had elevated glucose uptake into BAT compared to sham operated animals as well as elevated gene markers related to increased BAT activity (Ucp1, Dio2, Cpt1b, Cox8b, Ppargc) and markers of increased browning of white fat (Ucp1, Dio2, Cited1, Tbx1, Tnfrs9). Both iBAT lipectomy and 6-OHDA treatment significantly attenuated the impact of VSG on changes in body weight and adiposity in chow-fed animals. In addition, surgical excision of iBAT following VSG significantly reversed VSG-mediated improvements in glucose tolerance, an effect that was independent of circulating insulin levels. Viral tracing studies highlighted a patent neural link between the gut and BAT that included groups of premotor BAT-directed neurons in the dorsal raphe and raphe pallidus.
Collectively, these data support a role for BAT in mediating the metabolic sequelae following VSG surgery, particularly the improvement in glucose regulation, and highlight the need to better understand the contribution from this tissue in human patients.
Display omitted
•VSG results in increased BAT temperature and glucose uptake into BAT as well as elevated gene markers of BAT activity and browning of white fat.•Removal of BAT substantially limits the positive impact of VSG on both body weight and glycemic control.•Combination of two neurotropic viruses highlights a patent neural circuit between the gut and BAT that may underpin this response.
ABO incompatible (ABOi) kidney transplantation is an important modality to facilitate living donor transplant for incompatible pairs. To date, reports of the outcomes from this practice in the United ...States have been limited to single-center studies.
Using the Scientific Registry of Transplant Recipients, we identified 738 patients who underwent live-donor ABOi kidney transplantation between January 1, 1995, and March 31, 2010. These were compared with matched controls that underwent ABO compatible live-donor kidney transplantation. Subgroup analyses among ABOi recipients were performed according to donor blood type, recipient blood type, and transplant center ABOi volume.
When compared with ABO compatible-matched controls, long-term patient survival of ABOi recipients was not significantly different between the cohorts (P=0.2). However, graft loss was significantly higher, particularly in the first 14 days posttransplant (subhazard ratio, 2.34; 95% confidence interval, 1.43-3.84; P=0.001), with little to no difference beyond day 14 (subhazard ratio, 1.28; 95% confidence interval, 0.99-1.54; P=0.058). In subgroup analyses among ABOi recipients, no differences in survival were seen by donor blood type, recipient blood type, or transplant center ABOi volume.
These results support the use and dissemination of ABOi transplantation when a compatible live donor is not available, but caution that the highest period of risk is immediately posttransplant.
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