Lupus Myelopathy in a Child

A 5-year-old female developed, after a 7-month period of fever, anorexia, weight loss, and a transitory cutaneous erythematous eruption, a severe acute transverse myelopathy, with a partial recovery of motor and sensory function. She had positive antinuclear and antidouble-stranded DNA antibodies but no antiphospholipid antibodies. Six months later she had massive proteinuria and restarted treatment with steroids and cyclophosphamide. Our patient is one of the youngest reported with lupus myelopathy. We discuss the clinical presentation, the magnetic resonance imaging findings, and other relevant laboratory studies of this rare but serious complication of systemic lupus erythematosus

Botulismo Infantil em Portugal – Um Lactente com Hipotonia

O Botulismo Infantil (BI) constitui uma síndrome neuroparalítica rara, potencialmente fatal, causada pela neurotoxina do Clostridium botulinum. Descreve-se o primeiro caso reportado desde o início da notificação obrigatória em Portugal (1999). Lactente de dois meses, internado por prostração, dificuldade alimentar e obstipação. Constatou-se envolvimento inicial dos pares cranianos associado a fraqueza muscular progressiva, descendente e simétrica. Constituíam factores de risco o consumo de mel caseiro e o banho com ervas de camomila. A confirmação diagnóstica foi efectuada pela pesquisa de esporos de Clostridium botulinum nas fezes e pela prova de inoculação em ratinhos. O tratamento implicou suporte respiratório e nutricional, e imunoglobulina humana anti-toxina, com evolução favorável. A clínica e o contexto epidemiológico são importantes para o diagnóstico, permitindo a instituição precoce do tratamento

Aneurisma Intracraniano na Criança

Os aneurismas cerebrais são raros na criança, embora a sua ruptura seja a principal causa de hemorragia subaracnoideia neste grupo etário. Apresenta-se o caso de uma criança de 11 anos de idade, que recorreu ao hospital por cefaleia súbita e intensa, sem história prévia de traumatismos ou infecções. O estudo clínico e imagiológico realizado foi sugestivo de hemorragia subaracnoideia. A angiografia cerebral permitiu o diagnóstico de aneurisma da bifurcação da artéria carótida interna esquerda. Foi submetida a cirurgia, com boa evolução pós-operatória. Pretende-se com este caso alertar para as dificuldades no diagnóstico diferencial de ruptura de aneurisma cerebral na criança e salientar que um diagnóstico correcto e precoce permite melhorar o prognóstico

Methadone Intoxication in a Child: Toxic Encephalopathy?

Methadone is used in the treatment of opioid addiction. Acute intoxication can lead to severe consequences and can even be lethal. In several case reports and small series, a presumably toxic leukoencephalopathy is described resulting from inhalation of heroin. We present the case of a 3-year-old boy who ingested methadone accidentally. In a coma with acute obstructive hydrocephalus owing to massive cerebellar edema and supratentorial lesions, he was successfully treated with methylprednisolone and cerebrospinal fluid external drainage. To our knowledge, this is the first report of an encephalopathy associated with synthetic opioid intoxication

Febrile Syndrome and Coma.Case Report and Comments

A endocardite infecciosa é relativamente pouco frequente na idade pediátrica, mas a sua morbilidade e mortalidade são elevadas. Os autores descrevem um caso clínico de endocardite infecciosa aguda por Staphylococcus aureus numa criança de 5 anos de idade, sem factores de risco conhecidos, diagnosticada na sequência de complicações neurológicas (degradação súbita do estado de consciência e sinais neurológicos focais) resultantes de enfarte talâmico bilateral. A localização da lesão na TAC cranioencefálica sugere provável lesão de variante anatómica da artéria paramediana tálamosubtalâmica posterior. A propósito deste caso os autores fazem uma breve revisão desta forma de apresentação e das opções terapêuticas

Social odors conveying dominance and reproductive information induce rapid physiological and neuromolecular changes in a cichlid fish

Background: Social plasticity is a pervasive feature of animal behavior. Animals adjust the expression of their social behavior to the daily changes in social life and to transitions between life-history stages, and this ability has an impact in their Darwinian fitness. This behavioral plasticity may be achieved either by rewiring or by biochemically switching nodes of the neural network underlying social behavior in response to perceived social information. Independent of the proximate mechanisms, at the neuromolecular level social plasticity relies on the regulation of gene expression, such that different neurogenomic states emerge in response to different social stimuli and the switches between states are orchestrated by signaling pathways that interface the social environment and the genotype. Here, we test this hypothesis by characterizing the changes in the brain profile of gene expression in response to social odors in the Mozambique Tilapia, Oreochromis mossambicus. This species has a rich repertoire of social behaviors during which both visual and chemical information are conveyed to conspecifics. Specifically, dominant males increase their urination frequency during agonist encounters and during courtship to convey chemical information reflecting their dominance status. Results: We recorded electro-olfactograms to test the extent to which the olfactory epithelium can discriminate between olfactory information from dominant and subordinate males as well as from pre- and post-spawning females. We then performed a genome-scale gene expression analysis of the olfactory bulb and the olfactory cortex homolog in order to identify the neuromolecular systems involved in processing these social stimuli. Conclusions: Our results show that different olfactory stimuli from conspecifics' have a major impact in the brain transcriptome, with different chemical social cues eliciting specific patterns of gene expression in the brain. These results confirm the role of rapid changes in gene expression in the brain as a genomic mechanism underlying behavioral plasticity and reinforce the idea of an extensive transcriptional plasticity of cichlid genomes, especially in response to rapid changes in their social environment.Fundacao para a Ciencia e a Tecnologia (FCT, Portugal) [EXCL/BIA-ANM/0549/2012, Pest-OE/MAR/UI0331/2011]; Dwight W. and Blanche Faye Reeder Centennial Fellowship in Systematic and Evolutionary Biology; Institute for Cellular and Molecular Biology Fellowship; FCTinfo:eu-repo/semantics/publishedVersio

De-Novo Assembly and Analysis of the Heterozygous Triploid Genome of the Wine Spoilage Yeast Dekkera bruxellensis AWRI1499

Despite its industrial importance, the yeast species Dekkera (Brettanomyces) bruxellensis has remained poorly understood at the genetic level. In this study we describe whole genome sequencing and analysis for a prevalent wine spoilage strain, AWRI1499. The 12.7 Mb assembly, consisting of 324 contigs in 99 scaffolds (super-contigs) at 26-fold coverage, exhibits a relatively high density of single nucleotide polymorphisms (SNPs). Haplotype sampling for 1.2% of open reading frames suggested that the D. bruxellensis AWRI1499 genome is comprised of a moderately heterozygous diploid genome, in combination with a divergent haploid genome. Gene content analysis revealed enrichment in membrane proteins, particularly transporters, along with oxidoreductase enzymes. Availability of this assembly and annotation provides a resource for further investigation of genomic organization in this species, and functional characterization of genes that may confer important phenotypic traits

Aberrant Expression of Functional BAFF-System Receptors by Malignant B-Cell Precursors Impacts Leukemia Cell Survival

Despite exhibiting oncogenic events, patient's leukemia cells are responsive and dependent on signals from their malignant bone marrow (BM) microenvironment, which modulate their survival, cell cycle progression, trafficking and resistance to chemotherapy. Identification of the signaling pathways mediating this leukemia/microenvironment interplay is critical for the development of novel molecular targeted therapies

Field Attractants for Pachnoda interrupta Selected by Means of GC-EAD and Single Sensillum Screening

The sorghum chafer, Pachnoda interrupta Olivier (Coleoptera: Scarabaeidae: Cetoniinae), is a key pest on sorghum, Sorghum bicolor (L.) Moench (Poaceae), in Ethiopia. At present there is a lack of efficient control methods. Trapping shows promise for reduction of the pest population, but would benefit from the development of attractive lures. To find attractants that could be used for control of P. interrupta, either by mass trapping or by monitoring as part of integrated pest management, we screened headspace collections of sorghum and the highly attractive weed Abutilon figarianum Webb (Malvaceae) for antennal activity using gas chromatograph-coupled electroantennographic detection (GC-EAD). Compounds active in GC-EAD were identified by combined gas chromatography and mass spectrometry (GC-MS). Field trapping suggested that attraction is governed by a few influential compounds, rather than specific odor blends. Synthetic sorghum and abutilon odor blends were attractive, but neither blend outperformed the previously tested attractants eugenol and methyl salicylate, of which the latter also was part of the abutilon blend. The strong influence of single compounds led us to search for novel attractive compounds, and to investigate the role of individual olfactory receptor neurons (ORNs) in the perception of kairomones. We screened the response characteristics of ORNs to 82 putative kairomones in single sensillum recordings (SSR), and found a number of key ligand candidates for specific classes of ORNs. Out of these key ligand candidates, six previously untested compounds were selected for field trapping trials: anethole, benzaldehyde, racemic 2,3-butanediol, isoamyl alcohol, methyl benzoate and methyl octanoate. The compounds were selected on the basis that they activated different classes of ORNs, thus allowing us to test potential kairomones that activate large non-overlapping populations of the peripheral olfactory system, while avoiding redundant multiple activations of the same ORN type. Field trapping results revealed that racemic 2,3-butanediol is a powerful novel attractant for P. interrupta

Brettanomyces bruxellensis yeasts: impact on wine and winemaking

Yeasts belonging to the Brettanomyces/Dekkera genus are non-conventional yeasts, which affect winemaking by causing wine spoilage all over the world. This mini-review focuses on recent results concerning the presence of Brettanomyces bruxellensis throughout the wine processing chain. Here, culture-dependent and independent methods to detect this yeast on grapes and at the very early stage of wine production are encompassed. Chemical, physical and biological tools, devised for the prevention and control of such a detrimental species during winemaking are also presented. Finally, the mini-review identifies future research areas relevant to the improvement of wine safety and sensory profiles