Galactic conformity measured in semi-analytic models

We study the correlation between the specific star formation rate of central galaxies and neighbour galaxies, also known as 'galactic conformity', out to 20 Mpc/h using three semi-analytic models (SAMs, one from L-GALAXIES and other two from GALFORM). The aim is to establish whether SAMs are able to show galactic conformity using different models and selection criteria. In all the models, when the selection of primary galaxies is based on an isolation criterion in real space, the mean fraction of quenched galaxies around quenched primary galaxies is higher than that around star-forming primary galaxies of the same stellar mass. The overall signal of conformity decreases when we remove satellites selected as primary galaxies, but the effect is much stronger in GALFORM models compared with the L-GALAXIES model. We find this difference is partially explained by the fact that in GALFORM once a galaxy becomes a satellite remains as such, whereas satellites can become centrals at a later time in L-GALAXIES. The signal of conformity decreases down to 60% in the L-GALAXIES model after removing central galaxies that were ejected from their host halo in the past. Galactic conformity is also influenced by primary galaxies at fixed stellar mass that reside in dark matter haloes of different masses. Finally, we explore a proxy of conformity between distinct haloes. In this case the conformity is weak beyond ~ 3 Mpc/h (<3% in L-GALAXIES, <1-2% in GALFORM models). Therefore, it seems difficult that conformity is directly related with a long-range effect.Comment: 15 pages, 7 figures. Accepted for publication in MNRA

Contrasting patterns of selection between MHC I and II across populations of Humboldt and Magellanic penguins

Indexación: Web of ScienceThe evolutionary and adaptive potential of populations or species facing an emerging infectious disease depends on their genetic diversity in genes, such as the major histocompatibility complex (MHC). In birds, MHC class I deals predominantly with intracellular infections (e.g., viruses) and MHC class II with extracellular infections (e.g., bacteria). Therefore, patterns of MHC I and II diversity may differ between species and across populations of species depending on the relative effect of local and global environmental selective pressures, genetic drift, and gene flow. We hypothesize that high gene flow among populations of Humboldt and Magellanic penguins limits local adaptation in MHC I and MHC II, and signatures of selection differ between markers, locations, and species. We evaluated the MHC I and II diversity using 454 next-generation sequencing of 100 Humboldt and 75 Magellanic penguins from seven different breeding colonies. Higher genetic diversity was observed in MHC I than MHC II for both species, explained by more than one MHC I loci identified. Large population sizes, high gene flow, and/or similar selection pressures maintain diversity but limit local adaptation in MHC I. A pattern of isolation by distance was observed for MHC II for Humboldt penguin suggesting local adaptation, mainly on the northernmost studied locality. Furthermore, trans species alleles were found due to a recent speciation for the genus or convergent evolution. High MHC I and MHC II gene diversity described is extremely advantageous for the long term survival of the species.http://onlinelibrary.wiley.com/doi/10.1002/ece3.2502/epd

Immature rats show ovulatory defects similar to those in adult rats lacking prostaglandin and progesterone actions

Gonadotropin-primed immature rats (GPIR) constitute a widely used model for the study of ovulation. Although the equivalence between the ovulatory process in immature and adult rats is generally assumed, the morphological and functional characteristics of ovulation in immature rats have been scarcely considered. We describe herein the morphological aspects of the ovulatory process in GPIR and their response to classical ovulation inhibitors, such as the inhibitor of prostaglandin (PG) synthesis indomethacin (INDO) and a progesterone (P) receptor (PR) antagonist (RU486). Immature Wistar rats were primed with equine chorionic gonadotropin (eCG) at 21, 23 or 25 days of age, injected with human chorionic gonadotropin (hCG) 48 h later, and sacrificed 16 h after hCG treatment, to assess follicle rupture and ovulation. Surprisingly, GPIR showed age-related ovulatory defects close similar to those in adult rats lacking P and PG actions. Rats primed with eCG at 21 or 23 days of age showed abnormally ruptured corpora lutea in which the cumulus-oocyte complex (COC) was trapped or had been released to the ovarian interstitum, invading the ovarian stroma and blood and lymphatic vessels. Supplementation of immature rats with exogenous P and/or PG of the E series did not significantly inhibit abnormal follicle rupture. Otherwise, ovulatory defects were practically absent in rats primed with eCG at 25 days of age. GPIR treated with INDO showed the same ovulatory alterations than vehicle-treated ones, although affecting to a higher proportion of follicles. Blocking P actions with RU486 increased the number of COC trapped inside corpora lutea and decreased ovulation. The presence of ovulatory defects in GPIR, suggests that the capacity of the immature ovary to undergo the coordinate changes leading to effective ovulation is not fully established in Wistar rats primed with eCG before 25 days of age

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

KMT5B gene; Neurodevelopment; MiceGen KMT5B; Neurodesenvolupament; RatolinsGen KMT5B; Neurodesarrollo; RatonesPathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.This work was supported by LB692 Nebraska Tobacco Settlement Biomedical Research Development Program (to H.A.F.S.); The Simons Foundation Autism Research Initiative–Bridge to Independence Award SFARI 381192 (to H.A.F.S.); The A*STAR, Singapore, IAF-PP Program H17/01/a0/004 (to C.Y.L.); The Wong Boon Hock Society research program Yong Loo Lin School of Medicine (to Z.X.C.); NIH training grant 2T32GM008638-25 (L.B.); The Intramural Research Program of the National Human Genome Research Institute (to W.G.); The National Center for Advancing Translational Sciences of the NIH award number TL1TR001880 (to S.E.S.); The Eunice Kennedy Shriver National Institute of Child Health and Human Development award number HD009003-01 (to S.E.S.); Institute for Translational Medicine and Therapeutics of the Perelman School of Medicine at the University of Pennsylvania (to S.E.S.); and Swiss National Science Foundation (SNSF) grant 320020_179547 and funds from the University of Zurich Research Priority Programs (URPP) AdaBD: Adaptive Brain Circuits in Developments (to A.Rau.). F.J.K. was funded by the Deutsche Forschungsgemeinschaft grant number FOR 2488. In silico modeling was supported by the Spanish Ministerio de Ciencia e Innovación grant number PID2019-111217RB-I00 (to X.d.l.C.). This study used data from the DDD study. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003). This study makes use of DECIPHER (www.deciphergenomics.org), which is funded by Wellcome (grant number 223718/Z/21/Z). See Nature PMID: 25533962 or www.ddduk.org/access.html for full acknowledgement

Metastatic pheochromocytoma to liver without elevation of metanephrines and catecholamines

AbstractIntroductionMalignant pheochromocytoma represents 10% of all patients with pheochromocytoma. Of these cases, only 5–9% presents without elevation of metanephrines and catecholamines.Presentation of caseA 43-year-old female patient presented with an abdominal tumor. An exploratory laparotomy was performed and the final report was a pheochromocytoma. After ten years, multiple liver lesions were detected and surgical treatment was performed. Pathological evaluation revealed a malignant pheochromocytoma with negative margins after 5 years of follow-up without evidence of disease.DiscussionThe recurrence rate of malignant pheochromocytoma is 15–20% at ten years and a 5-year survival rate that ranges from 50% to 80%. The presence of synchronous metastases is rare (10–27%), but have been reported until 20 years later with the most common metastatic sites being the local lymph nodes, bone (50%), liver (50%) and lung (30%). The prognostic factor such as size >6cm, age over 45 years, synchronous metastasis and no tumor excision are related with poor prognosis.ConclusionSurgical treatment offers the best survival rate and the only chance of cure so far and the goal is an R0 resection as in our case. So it should be the treatment of choice

Assessment of the toll-like receptor 4 Asp299Gly, Thr399Ile and interleukin-8 -251 polymorphisms in the risk for the development of distal gastric cancer

<p>Abstract</p> <p>Background</p> <p>The intensity of the inflammation induced by <it>Helicobacter pylori </it>colonization is associated with the development of distal gastric cancer (GC). The host response to <it>H</it>. <it>pylori </it>has been related to genetic polymorphisms that influence both innate and adaptive immune responses.</p> <p>Our aim was to investigate whether the presence of the <it>TLR4 Asp299Gly</it>, <it>TLR4 Thr399Ile </it>and <it>IL-8-251 </it>A/T polymorphisms had any influence in the development of distal GC in a Mexican population.</p> <p>Methods</p> <p>We studied 337 patients that were divided in two groups: 78 patients with histologically confirmed distal GC and 259 non-cancer controls. The presence of <it>H. pylori </it>in the control population was defined by positive results of at least two of four diagnostic tests: serology, histology, rapid urease test and culture. Human DNA was purified and genotyped for <it>TLR4 Asp299Gly </it>polymorphism by pyrosequencing, for <it>TLR4 Thr399Ile </it>by PCR-RFLP and for <it>IL8-251 </it>by the amplification refractory mutation system (ARMS)-PCR.</p> <p>Results</p> <p>The non-cancer control group was found to be in Hardy-Weinberg equilibrium at the polymorphic loci studied (chi-square _H-W= 0.58 for <it>IL8-251</it>, 0.42 for <it>TLR4 Asp299Gly </it>and 0.17 for <it>TLR4 Thr399Ile</it>). The frequencies of mutated alleles (homozygous plus heterozygous) were compared between cases and controls. We found no significant difference for <it>TLR4- Asp299Gly </it>[the 7.7% of distal GC patients and 7.7 % non-cancer controls (p = 0.82)] and for <it>TLR4 Thr399Ile </it>[the 1.3% of GC patients and the 5% of the control population (p = 0.2)]. In contrast, for <it>IL-8-251 </it>A/T, 80.77% of the GC patients and 66.4% in the control group age and gender matched had at least one copy of mutated allele (OR = 2.12, 95% CI = 1.1–4.2) (p = 0.023).</p> <p>Conclusion</p> <p>This study showed that the <it>IL8-251*A </it>allele could be related to the development of distal gastric cancer in this Mexican population.</p

Milagro Constraints on Very High Energy Emission from Short Duration Gamma-Ray Bursts

Recent rapid localizations of short, hard gamma-ray bursts (GRBs) by the Swift and HETE satellites have led to the observation of the first afterglows and the measurement of the first redshifts from this type of burst. Detection of >100 GeV counterparts would place powerful constraints on GRB mechanisms. Seventeen short duration (< 5 s) GRBs detected by satellites occurred within the field of view of the Milagro gamma-ray observatory between 2000 January and 2006 December. We have searched the Milagro data for >100 GeV counterparts to these GRBs and find no significant emission correlated with these bursts. Due to the absorption of high-energy gamma rays by the extragalactic background light (EBL), detections are only expected for redshifts less than ~0.5. While most long duration GRBs occur at redshifts higher than 0.5, the opposite is thought to be true of short GRBs. Lack of a detected VHE signal thus allows setting meaningful fluence limits. One GRB in the sample (050509b) has a likely association with a galaxy at a redshift of 0.225, while another (051103) has been tentatively linked to the nearby galaxy M81. Fluence limits are corrected for EBL absorption, either using the known measured redshift, or computing the corresponding absorption for a redshift of 0.1 and 0.5, as well as for the case of z=0.Comment: Accepted for publication in the Astrophysical Journa