Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.info:eu-repo/semantics/acceptedVersio

Current Developments in Antioxidant Therapies for Spinal Cord Injury

When spinal cord injury (SCI) occurs, numerous sources of reactive oxygen species and nitrogen species may be active within first minutes or hours and even reactivate few days later. Free radical formation and lipid peroxidation (LP) have been described as an important mechanism in the beginning and accelerated progress in the development of diverse pathologies, importantly in those related to central nervous system. The compromise of molecules and cellular structures due to the oxidative state of microenvironment in SCI may determinate survival or apoptosis of resident and infiltrating cells and polarization toward an inflammatory response, which lead to an extension of damaged tissue and loss of neuronal function, or a regulatory/regenerative response. The investigation of new antioxidant agents and their action at a molecular level begins to reveal mechanisms that, if correctly modulated, promise an improvement in recovery of functions with respect to conventional pharmacological therapies. In this chapter, we will review the general mechanisms of oxidative stress and lipid peroxidation, those antioxidant treatments in experimental development and clinical phase, as well as their achievements and limitations

Associação entre perfil de citocinas inflamatórias em abomaso e resistência de ovinos morada nova ao haemonchus contortus.

Devido ao impacto dos nematódeos gastrintestinais (GIN) na ovinocultura, em especial Haemonchus contortus, cuja resistência anti-helmíntica é crescente, medidas alternativas de controle se fazem necessárias. Dentre elas, merece destaque a seleção de animais e raças resistentes

A single dose of purple grape juice improves physical performance and antioxidant activity in runners: a randomized, crossover, double?blind, placebo study.

PurposeTo investigate the effects of a single dose of juice on physical performance, oxidative stress, inflammation and muscle damage in runners.Methods Fourteen recreational male runners (39 ± 9 years, VO2peak = 55.9 ± 6.5 ml/kg/min) performed two running tests to exhaustion at 80% of VO2max after ingesting grape juice or a placebo drink (10 ml/kg/day) randomly. Blood samples were taken before and 2 h after supplementation and immediately after running to analyze total antioxidant capacity (TAC), malondialdehyde (MDA), alpha-1 acid glycoprotein (A1GPA), high-sensitivity C-reactive protein (hs-CRP), creatine kinase (CK) and lactate dehydrogenase (LDH).ResultsThe participants ran for an average of 59.2 ± 27.8 min until exhaustion in the placebo group and for 68.4 ± 29.7 min until exhaustion in the grape juice intake group, which was a significantly longer time (p = 0.008). This improvement in physical performance was accompanied by a 43.6% increase in TAC (p = 0.000) at the post-exercise timepoint compared to the level at baseline. MDA, A1GPA, hs-CRP, CK, and LDH did not exhibit changes. In contrast, no significant change in any variable was observed after consuming the placebo drink.ConclusionThe single-dose intake of purple grape juice demonstrated an ergogenic effect in recreational runners by increas-ing run time to exhaustion and increasing antioxidant activity

Identificação de genes de referência para avaliação de expressão gênica em ovinos infectados com Haemonchus contortus.

A seleção de animais resistentes à hemoncose ovina é uma medida alternativa de controle cada vez mais estudada, tendo em vista o impacto desse parasita nos sistemas de produção e a elevada ocorrência de resistência múltipla aos antihelmínticos atualmente disponíveis

Impacto da infecção por nematoides gastrintestinais em cordeiros morada nova.

A raça Morada Nova é considerada resistente à infecção por nematoides gastrintestinais (GINs). Ela também se destaca por sua rusticidade, prolificidade, pele de excelente qualidade, precocidade sexual, excelente habilidade materna e inexistência de sazonalidade reprodutiva

Lowering IceCube’s energy threshold for point source searches in the southern sky

Observation of a point source of astrophysical neutrinos would be a "smoking gun" signature of a cosmic-ray accelerator. While IceCube has recently discovered a diffuse flux of astrophysical neutrinos, no localized point source has been observed. Previous IceCube searches for point sources in the southern sky were restricted by either an energy threshold above a few hundred TeV or poor neutrino angular resolution. Here we present a search for southern sky point sources with greatly improved sensitivities to neutrinos with energies below 100 TeV. By selecting charged-current nu(mu) interacting inside the detector, we reduce the atmospheric background while retaining efficiency for astrophysical neutrino-induced events reconstructed with sub-degree angular resolution. The new event sample covers three years of detector data and leads to a factor of 10 improvement in sensitivity to point sources emitting below 100 TeV in the southern sky. No statistically significant evidence of point sources was found, and upper limits are set on neutrino emission from individual sources. A posteriori analysis of the highest-energy (similar to 100 TeV) starting event in the sample found that this event alone represents a 2.8 sigma deviation from the hypothesis that the data consists only of atmospheric background

The contribution of Fermi-2LAC blazars to the diffuse TeV-PeV neutrino flux

The recent discovery of a diffuse cosmic neutrino flux extending up to PeV energies raises the question of which astrophysical sources generate this signal. One class of extragalactic sources which may produce such high-energy neutrinos are blazars. We present a likelihood analysis searching for cumulative neutrino emission from blazars in the 2nd Fermi-LAT AGN catalogue (2LAC) using an IceCube neutrino dataset 2009-12 which was optimised for the detection of individual sources. In contrast to previous searches with IceCube, the populations investigated contain up to hundreds of sources, the largest one being the entire blazar sample in the 2LAC catalogue. No significant excess is observed and upper limits for the cumulative flux from these populations are obtained. These constrain the maximum contribution of the 2LAC blazars to the observed astrophysical neutrino flux to be $27 \%$ or less between around 10 TeV and 2 PeV, assuming equipartition of flavours at Earth and a single power-law spectrum with a spectral index of $-2.5$. We can still exclude that the 2LAC blazars (and sub-populations) emit more than $50 \%$ of the observed neutrinos up to a spectral index as hard as $-2.2$ in the same energy range. Our result takes into account that the neutrino source count distribution is unknown, and it does not assume strict proportionality of the neutrino flux to the measured 2LAC $\gamma$-ray signal for each source. Additionally, we constrain recent models for neutrino emission by blazars.Comment: 18 pages, 22 figure