818 research outputs found
Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1
Original article[Abstract]
Background Multiple endocrine neoplasia type 1 (MEN1) is a genetic disease that predisposes to endocrine tumour development. Some cutaneous lesions (angiofibromas, collagenomas, melanosis guttaca, lipomas, melanomas, ‘cafe au lait macules’) have been associated to this syndrome. We compare the prevalence of cutaneous lesion in affected patients with their non‐carrier relatives.
Patients and method We studied 9 patients with MEN1 and 20 non‐carrier, first‐degree relatives. Genetic screening was realized in all of them. Patients were examined by dermatologist, and biopsy was performed when necessary.
Results Patients with MEN1 presented hyperparathyroidism (100%), neuroendocrine tumours of pancreas (66%) and pituitary adenomas (44%); their relatives were free of endocrine features of MEN1. The studied cutaneous lesions were more prevalent in affected patients than in non‐carriers (55.5% vs. 25%; P = 0.029). Odds ratio of developing cutaneous lesions in MEN1 patients was 6.6 (95% confidence interval, 1.09–40.43). The frequency of angiofibromas was lower (22.2%) than the reported in other studies (43–88%), and we did not find any collagenoma.
Conclusions MEN1 is associated to some cutaneous lesions and could be useful for detecting MEN1 carriers in an affected family. Cutaneous lesions should be assessed in MEN1 patients.Instituto de Salud Carlos III; FIS PI051024Xunta de Galicia; PGIDT05PXIC91605P
Variaciones anuales y diarias de la concentración de polen de la atmósfera de la ciudad de Orense
En el presente trabajo« reali"" el utudlo >erobioló¡¡jc de la ciudad de Oren·
se entre el l de febrero y el 30 de: se:t iernbt ~ eJe 1992, rnedinnlc un CZiptJdor vctumétrico
sporc-uap tipo LANZ.ONI VPPS 20C(l, Se presenta 13 ... aria~n anual dd pok:n total y w~
nes mis abundant~ así c:onl() la \'Jriación dmria para Paace..1e y CoJtOJitO dunnle ~U!. j'ICrfO·
dos de polinización principal y de polen total de mayo a julio El polen que .llc..mZ3 potccnta·
jes mis cluados corresponde a Afmtr, PfalotwJ, Qw:rws. Pimu, Brt1do, Po:~ccac 'i CaSfU·
11 ea.El comportamiento intradiurno de Ctmunca y Po:Keae es similar, y sus ,-,.¡~ miximos
se regisrran durante la lilrde-flocheDuring tht rnonths from February to Scptrmber 1992, V.'C CJrr~J out an :.erobiological
study of the city uf Orcnse, u5ing vulumetrie LANZO~I VPPS 2000 spuoe-trnps. In
lhis work wc rcl'resent the total annu31 ~·3ti:u ion of rollen, p:trl~ularly o( thc mn<J. import:tnt
tax:l and likcwtse thc daily hour tu hour vari3tion o Poo.ceac and Custartt'a du ring it'o pollcn
scason and the ovcrall vari:uton of polkn total mea~ureU d~u\y and fwm hour 10 hoor. The
highc::M pcrtenta,ge or pollcn detccted COrrt~sponds lO AIIWS, Plataffll!, Qurrcu.s, Pmm, Btwla,
l"oaceae and Cos1at1U1. l111.: diunul \·:uiation for thc concentrJLion of polleo grains of PG:l·
ccac and úutanca prescntli a ¡Jatlcrn wbcrc thc: highc~ pe:tk~ .1rc obta1ncd during thc hale
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Data-driven model for the assessment of mycobacterium tuberculosis transmission in evolving demographic structures
In the case of tuberculosis (TB), the capabilities of epidemic models to produce quantitatively robust forecasts are limited by multiple hindrances. Among these, understanding the complex relationship between disease epidemiology and populations’ age structure has been highlighted as one of the most relevant. TB dynamics depends on age in multiple ways, some of which are traditionally simplified in the literature. That is the case of the heterogeneities in contact intensity among different age strata that are common to all airborne diseases, but still typically neglected in the TB case. Furthermore, while demographic structures of many countries are rapidly aging, demographic dynamics are pervasively ignored when modeling TB spreading. In this work, we present a TB transmission model that incorporates country-specific demographic prospects and empirical contact data around a data-driven description of TB dynamics. Using our model, we find that the inclusion of demographic dynamics is followed by an increase in the burden levels predicted for the next decades in the areas of the world that are most hit by the disease today. Similarly, we show that considering realistic patterns of contacts among individuals in different age strata reshapes the transmission patterns reproduced by the models, a result with potential implications for the design of age-focused epidemiological interventions
Comparisons of Blockage Widths of Ideally Hard Cylinders of Different Cross-Sectional Shapes
In some applications the electromagnetic waves radiating from or being received by an antenna are obstructed by some mechanical structure. If the structure is part of or close to an antenna, the obstruction may represent aperture blockage causing increased sidelobes and reduced gain of the antenna. For example, the blocking structures can be struts or masts supporting the feed in reflectarrays or in reflectors. Usually in antennas, the direction of the incident wave is known, so the struts can be designed to reduce the blockage for a given direction of incidence
MiR393 regulation of auxin signaling and redox-related components during acclimation to salinity in Arabidopsis
One of the most striking aspects of plant plasticity is the modulation of development in response to environmental changes. Plant growth and development largely depend on the phytohormone auxin that exerts its function through a partially redundant family of F-box receptors, the TIR1-AFBs. We have previously reported that the Arabidopsis double mutant tir1 afb2 is more tolerant to salt stress than wild-type plants and we hypothesized that down-regulation of auxin signaling might be part of Arabidopsis acclimation to salinity. In this work, we show that NaCl-mediated salt stress induces miR393 expression by enhancing the transcription of AtMIR393A and leads to a concomitant reduction in the levels of the TIR1 and AFB2 receptors. Consequently, NaCl triggers stabilization of Aux/IAA repressors leading to down-regulation of auxin signaling. Further, we report that miR393 is likely involved in repression of lateral root (LR) initiation, emergence and elongation during salinity, since the mir393ab mutant shows reduced inhibition of emergent and mature LR number and length upon NaCl-treatment. Additionally, mir393ab mutant plants have increased levels of reactive oxygen species (ROS) in LRs, and reduced ascorbate peroxidase (APX) enzymatic activity compared with wild-type plants during salinity. Thus, miR393 regulation of the TIR1 and AFB2 receptors could be a critical checkpoint between auxin signaling and specfic redoxassociated components in order to coordinate tissue and time-specific growth responses and tolerance during acclimation to salinity in Arabidopsis.Instituto de Fisiología Vegeta
Single nucleotide polymorphism (SNP) analysis used for the phylogeny of the Mycobacterium tuberculosis complex based on a pyrosequencing assay
Background
Different polymorphisms have been described as markers to classify the lineages of the Mycobacterium tuberculosis complex. The analysis of nine single nucleotide polymorphisms (SNPs) was used to describe seven SNPs cluster groups (SCGs). We attempted to classify those strains that could not been categorized into lineages by the genotyping methods used in the routine testing.
Results
The M. tuberculosis complex isolates collected in 2010 in our region were analysed. A new method based on multiplex-PCRs and pyrosequencing to analyse these SNPs was designed. For the pyrosequencing assay nine SNPs that defined the seven SCGs were selected from the literature: 1977, 74092, 105139, 232574, 311613, 913274, 2460626, 3352929 and gyrA95. In addition, SNPs in katG463, mgtC182, Ag85C103 and RDRio deletion were detected
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