16 research outputs found
Superficial siderosis of the central nervous system: case report
Introdução: A Siderose Superficial do Sistema Nervoso Central (SS) Ă© uma doença rara caracterizada pelo depĂłsito de hemossiderina no encĂ©falo e na medula espinhal. Clinicamente se caracteriza por ataxia e surdez neurossensorial progressivas associados a lesĂŁo do neurĂŽnio motor superior. O diagnĂłstico Ă© feito atravĂ©s do exame de ressonĂąncia nuclear magnĂ©tica (RNM) de EncĂ©falo e Medula Espinhal. Objetivo: Relatar um caso de paciente com elementos caracterĂsticos da sĂndrome, associados Ă presença incomum de epilepsia. MĂ©todo: Relatamos o caso de um paciente com SS acompanhado no Instituto de Neurologia Deolindo Couto da UFRJ-RJ. ConclusĂŁo: A Siderose Superficial do Sistema Nervoso Central Ă© uma afecção do SNC que deve ser pensada em todo paciente com quadro de ataxia e surdez neurossensorial progressivas, necessitando de RNM, preferencialmente as imagens de Gradiente eco em T2 para o diagnĂłstico.Introduction: Superficial Siderosis Central Nervous System (SS) is a rare disease characterized by the deposition of hemosiderin in the brain and spinal cord. Clinically there is progressive ataxia and sensorineural deafness associated with upper motor neuron lesion. The diagnosis is made by examination of magnetic resonance imaging (MRI) Brain and Spinal Cord. Objective: Report a case of a patient with characteristic features of the syndrome, associated with the unusual presence of epilepsy. Method: We report the case of a patient with SS followed at the Institute of Neurology Deolindo Couto da UFRJ-RJ. Conclusion: The Superficial Siderosis Central Nervous System is a disease of the CNS that must be considered in any patient with ataxia and progressive deafness, requiring MRI, preferably images Gradient echo T2 for diagnosis
Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences
The question whether taxonomic descriptions naming new animal species without type specimen(s) deposited in collections should be accepted for publication by scientific journals and allowed by the Code has already been discussed in Zootaxa (Dubois & NemĂ©sio 2007; Donegan 2008, 2009; NemĂ©sio 2009aâb; Dubois 2009; Gentile & Snell 2009; Minelli 2009; Cianferoni & Bartolozzi 2016; Amorim et al. 2016). This question was again raised in a letter supported
by 35 signatories published in the journal Nature (Pape et al. 2016) on 15 September 2016. On 25 September 2016, the following rebuttal (strictly limited to 300 words as per the editorial rules of Nature) was submitted to Nature, which on
18 October 2016 refused to publish it. As we think this problem is a very important one for zoological taxonomy, this text is published here exactly as submitted to Nature, followed by the list of the 493 taxonomists and collection-based
researchers who signed it in the short time span from 20 September to 6 October 2016
Comparison between the NASCET method and subjective visual impression in the evaluation of internal carotid artery stenosis
OBJECTIVE: To evaluate the accuracy of subjective visual impression (SVI) of an experienced neuro-radiologist in the measurement of the degree of internal carotid artery (IC) stenosis evaluated by digital angiography (DGA). METHOD: Ten symptomatic patients with internal carotid stenosis greater than 70% in a previous duplex scan were submitted to DGA. The degree of stenosis in both sides (symptomatic and asymptomatic) were evaluated by the same neuro-radiologist who gave his SVI and applied the NASCET method immediately after. Both methods were compared using the intraclass correlation coeficient (r) and its 95% confidence interval (95% ci). For each method, the sample (20 ICs) was also divided in surgical (stenosis between 70 and 99%) and non surgical ICs, using kappa concordance coeficient (k) to compare the results. RESULTS: The results comparing the 20 values obtained by each method are: r = 0.90 (95% ci: 0.77 -- 0.96). Dividing the sample in surgical and non surgical ICs, k = 0.857, p < 0.0001; sensitivity = 100% (39.6% - 100%); specificity = 93.8% (67.7% - 99.7%); positive predictive value = 80% (29.9% - 98.9%); negative predictive value = 100% (74,7% - 100%). CONCLUSION: The SVI may be used by at least some experienced neuroradiologists as a preliminary tool to evaluate the degree of IC stenosis with DGA, but a standardised and well established method should be routinely performed
An insight into the transcriptome of the digestive tract of the bloodsucking bug, Rhodnius prolixus.
The bloodsucking hemipteran Rhodnius prolixus is a vector of Chagas' disease, which affects 7-8 million people today in Latin America. In contrast to other hematophagous insects, the triatomine gut is compartmentalized into three segments that perform different functions during blood digestion. Here we report analysis of transcriptomes for each of the segments using pyrosequencing technology. Comparison of transcript frequency in digestive libraries with a whole-body library was used to evaluate expression levels. All classes of digestive enzymes were highly expressed, with a predominance of cysteine and aspartic proteinases, the latter showing a significant expansion through gene duplication. Although no protein digestion is known to occur in the anterior midgut (AM), protease transcripts were found, suggesting secretion as pro-enzymes, being possibly activated in the posterior midgut (PM). As expected, genes related to cytoskeleton, protein synthesis apparatus, protein traffic, and secretion were abundantly transcribed. Despite the absence of a chitinous peritrophic membrane in hemipterans - which have instead a lipidic perimicrovillar membrane lining over midgut epithelia - several gut-specific peritrophin transcripts were found, suggesting that these proteins perform functions other than being a structural component of the peritrophic membrane. Among immunity-related transcripts, while lysozymes and lectins were the most highly expressed, several genes belonging to the Toll pathway - found at low levels in the gut of most insects - were identified, contrasting with a low abundance of transcripts from IMD and STAT pathways. Analysis of transcripts related to lipid metabolism indicates that lipids play multiple roles, being a major energy source, a substrate for perimicrovillar membrane formation, and a source for hydrocarbons possibly to produce the wax layer of the hindgut. Transcripts related to amino acid metabolism showed an unanticipated priority for degradation of tyrosine, phenylalanine, and tryptophan. Analysis of transcripts related to signaling pathways suggested a role for MAP kinases, GTPases, and LKBP1/AMP kinases related to control of cell shape and polarity, possibly in connection with regulation of cell survival, response of pathogens and nutrients. Together, our findings present a new view of the triatomine digestive apparatus and will help us understand trypanosome interaction and allow insights into hemipteran metabolic adaptations to a blood-based diet.Journal ArticleResearch Support, N.I.H. IntramuralResearch Support, Non-U.S. Gov'tSCOPUS: ar.jSCOPUS: ar.jinfo:eu-repo/semantics/publishe
COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19
The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5âmillion control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p
Apolipoprotein B, Residual Cardiovascular Risk After Acute Coronary Syndrome, and Effects of Alirocumab.
Background: Apolipoprotein B (apoB) provides an integrated measure of atherogenic risk. Whether apoB levels and apoB lowering hold incremental predictive information on residual risk after acute coronary syndrome beyond that provided by low-density lipoprotein cholesterol is uncertain. Methods: The ODYSSEY OUTCOMES trial (Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab) compared the proprotein convertase subtilisin/kexin type 9 inhibitor alirocumab with placebo in 18â924 patients with recent acute coronary syndrome and elevated atherogenic lipoproteins despite optimized statin therapy. Primary outcome was major adverse cardiovascular events (MACE; coronary heart disease death, nonfatal myocardial infarction, fatal/nonfatal ischemic stroke, hospitalization for unstable angina). Associations between baseline apoB or apoB at 4 months and MACE were assessed in adjusted Cox proportional hazards and propensity scoreâmatched models. Results: Median follow-up was 2.8 years. In proportional hazards analysis in the placebo group, MACE incidence increased across increasing baseline apoB strata (3.2 [95% CI, 2.9â3.6], 4.0 [95% CI, 3.6â4.5], and 5.5 [95% CI, 5.0â6.1] events per 100 patient-years in strata 35â<50, and â€35 mg/dL, respectively). Compared with propensity scoreâmatched patients from the placebo group, treatment hazard ratios for alirocumab also decreased monotonically across achieved apoB strata. Achieved apoB was predictive of MACE after adjustment for achieved low-density lipoprotein cholesterol or nonâhigh-density lipoprotein cholesterol but not vice versa. Conclusions: In patients with recent acute coronary syndrome and elevated atherogenic lipoproteins, MACE increased across baseline apoB strata. Alirocumab reduced MACE across all strata of baseline apoB, with larger absolute reductions in patients with higher baseline levels. Lower achieved apoB was associated with lower risk of MACE, even after accounting for achieved low-density lipoprotein cholesterol or nonâhigh-density lipoprotein cholesterol, indicating that apoB provides incremental information. Achievement of apoB levels as low as â€35 mg/dL may reduce lipoprotein-attributable residual risk after acute coronary syndrome. Registration: URL: https://www.clinicaltrials.gov ; Unique identifier: NCT01663402.gov; Unique identifier: NCT01663402.URL: https://www