Human gut microbiota analysis of cystic fibrosis infants using metaproteomics.

We report a metaproteomic analysis of the gut microbiota of eight infants with cystic fibrosis, during the first year of life. This is the first study in this disease that uses metaproteomics to analyze stool samples from patients at such a young age.

Pediatric Case of Li-Fraumeni Syndrome in Honduras.

Li-Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,000,000 people, of which 40% turn out to be carcinomas. We present a 12-year-old boy with a history of worsening headaches of more than one month, gait disturbance, projectile vomiting, and right hemiparesis. An intraventricular tumor was identified in the occipital of the left lateral ventricle, which turned out to be a TP53-mutant choroidal plexus carcinoma.

Ziprasidone in the treatment of delusional parasitosis.

Delusional parasitosis is characterized by a patient's fixed false belief of being infested with parasites or small creatures. The first-line treatment options are typical antipsychotics such as pimozide. However, the accompanying extrapyramidal side effects might limit their use. We report on a patient with a good response to pimozide combined with ziprasidone. Ziprasidone is an atypical antipsychotic drug with a lower risk of extrapyramidal symptoms; thus, it might be considered a good first or second treatment option for delusional parasitosis.

Volatile organic compounds in headspace over electrical components at 75 to 200°C - part 1. identification of constituents and emission rates.

The identity and emission rates of volatile organic compounds (VOCs) in headspace vapors over electronic components were determined at temperatures from 75 to 200°C using gas chromatography/mass spectrometry. The emission of VOCs may provide a basis to detect the onset of the overheating of electronic components in confined atmospheres near electronic bays on airplanes and submarines before smoldering or ignition. VOCs found in headspace vapors over components, including resistors, capacitors, diodes, transistors, and insulation from wires of a transformer, were composed of simple mixtures of substances with 6 to 10 carbon number from chemical families including ketones, aldehydes, substituted benzenes, alcohols, and phenols. Composition of the vapors was characteristic but not exclusive of a particular electrical component, except for phenols and methylstyrene, which were found only in a single component. Emission rates were expressed as nanogram of chemical per gram of component per minute, and increased from a low of 0.001 ng/g-min for nonanal from transformer wire at 100°C to a maximum of 2.5 ng/g-min at 150°C for isophorone from a resistor. Patterns of persistence with repeated sampling of headspace for components at 200°C over 5 hr suggested that VOCs arose from impurities in plastics rather than from thermal decomposition of the polymer.

Clinical and biological implications of MYC activation: a common difference between MGUS and newly diagnosed multiple myeloma.

Events mediating transformation from the pre-malignant monoclonal gammopathy of undetermined significance (MGUS) to multiple myeloma (MM) are unknown. We analyzed gene expression data sets generated on the Affymetrix U133 platform from 22 MGUS and 101 MM patients using gene-set enrichment analysis. Genes overexpressed in MM were enriched for cell cycle, proliferation and MYC activation gene sets. Upon dissecting the relationship between MYC and cell-cycle gene sets, we identified and validated an MYC activation signature dissociated from proliferation. Applying this signature, MYC is activated in 67% of myeloma, but not in MGUS. This was further confirmed by immunohistochemistry (IHC) using membrane CD138 and nuclear MYC double staining. We also showed that almost all tumors with RAS mutations expressed the MYC activation signature, and multiple mechanisms may be involved in activating MYC. MYC activation, whether assessed by gene-expression signature or IHC, is associated with hyperdiploid MM and shorter survival even in tumors that are not proliferative. Bortezomib treatment is able to overcome the survival disadvantage in patients with MYC activation.

Networks as a novel tool for studying team ball sports as complex social systems.

This paper describes and evaluates the novel utility of network methods for understanding human interpersonal interactions within social neurobiological systems such as sports teams. We show how collective system networks are supported by the sum of interpersonal interactions that emerge from the activity of system agents (such as players in a sports team). To test this idea we trialled the methodology in analyses of intra-team collective behaviours in the team sport of water polo. We observed that the number of interactions between team members resulted in varied intra-team coordination patterns of play, differentiating between successful and unsuccessful performance outcomes. Future research on small-world networks methodologies needs to formalize measures of node connections in analyses of collective behaviours in sports teams, to verify whether a high frequency of interactions is needed between players in order to achieve competitive performance outcomes.

Strict Anatomical Colocalization of Vitiligo and Elastolytic Granulomas.

Vitiligo is the most common depigmenting disorder, with a worldwide occurrence of 0.1-2% in the general population. Multiple conditions have been described colocalized in vitiligo patches, like psoriasis or lichen planus. However, actinic granuloma has not been described in association with vitiligo lesions so far.

Conjunctival Melanoma: A New Clinical and Therapeutical Approach.

Melanoma involving the conjunctiva is extremely rare. Graver prognosis has been reported with primary conjunctival melanoma than with their cutaneous counterparts [Collin et al.: Aust N Z J Ophthalmol 1986;14:29-34]. Among conjunctival melanomas, two significant risk factors for tumour-related death have been identified: (i) age older than 55 years and (ii) unfavourable tumour location (caruncle, cornea, fornix, palpebral conjunctiva) [Werschnik and Lommatzsch: Am J Clin Oncol 2002;25:248-255]. Here we present a rare case of lentigo maligna involving the palpebral, bulbar conjunctiva and the caruncle. We describe dermoscopic patterns observed and the use of a novel ocular melanoma therapy with topical imiquimod.

Rapid diagnosis of vibriosis and white spot syndrome (WSS) in the culture of shrimp, Penaeus monodon in Philippines.

Viral and bacterial pathogens have raised serious concerns in the sustainability of the shrimp culture industry in the Philippines. Heavy mortality associated with luminous vibriosis and white spot syndrome virus (WSSV) infection has been the major problem besetting the industry. Using published PCR protocols for the diagnosis of vibriosis and white spot syndrome virus (WSSV) disease in shrimp, we optimized these assays that could be suited to the shrimp aquaculture setting in the Philippines. Genomic DNAs of Vibrio spp. that exhibited luminescence as well as those that grew on thiosulfate citrate bile salt sucrose agar (TCBS) were used for the PCR amplification of the ribonuclease P (RNase P) gene. There was differential amplification of the RNase P gene based on the phenotypic characters of the Vibrio spp. Similar results were also obtained using direct colony PCR of the bacterial colonies. White spot syndrome virus was also detected in the infected shrimp and there were differences in the detection frequency in relation to the tissues used for PCR amplification. Duplex PCR was also optimized that could be used for simultaneous detection of these pathogens in shrimp.

Genetic aberrations and survival in plasma cell leukemia.

Plasma cell leukemia (PCL) is an aggressive and rare hematological malignancy that originates either as primary disease (pPCL) or as a secondary leukemic transformation (sPCL) of multiple myeloma (MM). We report here the genetic aberrations and survival of 80 patients with pPCL or sPCL and make comparisons with 439 cases of MM. pPCL presents a decade earlier than sPCL (54.7 vs 65.3 years) and is associated with longer median overall survival (11.1 vs 1.3 months; P<0.001). 14q32 (IgH) translocations are highly prevalent in both sPCL and pPCL (82-87%); in pPCL IgH translocations almost exclusively involve 11q13 (CCND1), supporting a central etiological role, while in sPCL multiple partner oncogenes are involved, including 11q13, 4p16 (FGFR3/MMSET) and 16q23 (MAF), recapitulating MM. Both show ubiquitous inactivation of TP53 (pPCL 56%; sPCL 83%) by coding mutation or 17p13 deletion; complemented by p14ARF epigenetic silencing in sPCL (29%). Both show frequent N-RAS or K-RAS mutation. Poor survival in pPCL was predicted by MYC translocation (P=0.006). Survival in sPCL was consistently short. Overall pPCL and sPCL are different disorders with distinct natural histories, genetics and survival.

6q deletion in Waldenström macroglobulinemia is associated with features of adverse prognosis.

Fluorescence in situ hybridisation (FISH) is an effective technique for the cytogenetic analysis of Waldenström macroglobulinemia (WM), but the potential impact of molecular cytogenetics on disease evolution and as a prognostic marker is still unknown. Deletion of the long arm of chromosome 6 (6q-) is the most frequent cytogenetic abnormality in WM. This study analysed the prevalence of this aberration in 102 WM patients, and correlated it with disease characteristics. The incidence of 6q21 deletion was 7% by conventional cytogenetics and 34% when analysed by FISH (54% when cytoplasmic immunoglobulin M-FISH was used). Patients with deletion of 6q displayed features of adverse prognosis, such as higher levels of beta2-microglobulin and monoclonal paraprotein and a greater tendency to display anaemia and hypoalbuminemia. Interestingly, there was a correlation between the presence of 6q deletion and the International Staging System prognostic index (incidence of 6q- among patients stratified in stages 1, 2 and 3 was 24%, 42% and 67% respectively). Those patients diagnosed with smouldering WM who displayed the abnormality showed a trend to an earlier requirement of treatment. Finally, the survival analysis did not show differences between the two groups of patients, probably due to the short follow up of our series.

Aplicación de la estrategia secuencial de la OCDE para evaluar la irritación y corrosión dérmica por un producto fitosanitario / Application of the OCDE sequential strategy for the evaluation of dermal irritation and corrosion

Con la intención de reemplazar los ensayos en animales y mejorar las propiedades predictivas, la Guía TG404 de la OCDE sobre irritación/corrosión dérmica aguda ha desarrollado una nueva estrategia secuencial que promueve el uso de métodos alternativos tales como los test en sistemas in vitro. Se ha aplicado el procedimiento de esta estrategia para evaluar la irritación y corrosión dérmica por un nuevo fertilizante con fines de registro, con el objetivo de comprobar sus ventajas en un estudio normalizado. Para evaluar la corrosión dérmica se ha utilizado el sistema in vitro validado EpiDerm™, epidermis reconstituída formada por queratinocitos humanos. Puesto que por el momento no existe un modelo in vitro validado para irritación dérmica, ésta fue evaluada en el sistema EpiDerm™ y mediante un método in vivo. En ambos ensayos in vitro se midió también la liberación de IL1α. El producto fue clasificado como no corrosivo y no irritante. Los resultados del estudio demuestran las ventajas de la estrategia secuencial propuesta por la OCDE en la evaluación de la corrosión e irritación por las siguientes razones: a) se adquiere un conocimiento previo sobre las propiedades físicoquímicas de los compuestos químicos con el fin de evitar la exposición innecesaria de los animales a sustancias corrosivas b) los métodos in vitro de corrosión dérmica pueden sustituir los animales de experimentación c) las modificaciones propuestas para el test in vivo reducen el sufrimiento de los animales y suponen un importante ahorro económico y de tiempo. No obstante, se requiere con urgencia disponer de métodos alternativos in vitro para evaluar la irritación cutánea

In order to replace the assays carried out on animals and improve the predictive properties, the Guideline TG404 of the OCDE on acute dermal corrosion/irritation has developed a new sequential strategy that promotes the use of alternative methods such as the tests in in vitro systems. The procedure of this strategy has been applied in order to evaluate the irritation and dermal corrosion produced by a new fertilizer with the objective of obtaining a patent and in order to determine the advantages of using said fertilizer in a normalized study. In order to evaluate the dermal corrosion, the validated in vitro system EpiDermTM, a reconstituted epidermis formed by human keratinocytes, has been used. Since, at this moment, no in vitro model which is validated for dermal irritation exists, this method was evaluated in the EpiDermTM system and by means of and in vivo method. In both in vivo assays, the release of IL1α was measured also. The product was classified as noncorrosive and nonirritant. The results of the study showed the advantages of the sequential strategy proposed by the OCDE in the evaluation of the corrosion and irritation due to the following reasons: a) prior knowledge is acquired regarding the physicochemical properties of the chemical compounds for the purpose of avoiding unnecessary exposure of corrosive substances to the animals; b) the in vitro methods of dermal corrosion can substitute the experimentation animals and c) the modifications proposed for the in vivo test reduce animal suffering and represent important time and economical savings. However, there is an urgent need for available alternative in vitro methods for the evaluation of cutaneous irritation

Scorpion envenoming in two regions of Colombia: clinical, epidemiological and therapeutic aspects.

To determine clinical and epidemiological features of scorpion stings in two departments of Colombia, a descriptive study was performed in the hospitals of 10 towns from Antioquia (2 256 071 inhabitants) and five from Tolima (630 424 inhabitants). One hundred and twenty-nine cases were admitted during one year, 51 in Antioquia, 78 in Tolima and 41 were children less than 15 years old. Most stings (70.5%) occurred inside the house; 27.9% were on the hands and 26.4% on the feet. The scorpion species involved were Tityus pachyurus (51), Centruroides gracilis (31), T. fuehrmanni (29), T. asthenes (7) and Chactas spp. (1). In 10 cases the scorpion involved was not identified. Systemic envenoming signs (e.g. vomiting, tachypnea) were significantly more frequent in children than in adults (P < 0.05). Four children had hypertension, but none developed pulmonary oedema. One 3-year-old girl, stung by T. asthenes, had acute oedematous pancreatitis. Ninety-eight patients had mild envenoming. Moderate (27 patients) and severe (four patients) envenoming was significantly more frequent in children than in adults (P = 0.003; relative risk = 2.97). A pepsin-digested anti-Centruroides spp. antivenom was administered to 19 of 31 patients presenting systemic envenoming signs. No adverse reactions to antivenom were observed.

The sensitivity, specificity, and clinical relevance of gel versus tube DATs in the clinical immunology laboratory.

The DAT is a test used to demonstrate in vivo antibody and/or complement coating of RBCs. Typically, the DAT is performed in test tubes; however, recently a number of commercially available tests using gel-filled microtubes have become available. Few data comparing the sensitivity of these test media are available. To compare the rate of detection of a positive DAT performed in test tubes versus in gel-filled microtubes and to assess the clinical significance of the results in patients undergoing evaluation of anemia, we tested 310 consecutive EDTA-anticoagulated blood samples from adult patients. The samples were analyzed using both the conventional tube technique and a gel-based assay (DiaMed; Cressier sur Morat, Switzerland). Test results were expressed as either positive or negative. When a positive result by either technique was encountered, the treating physician was interviewed to determine whether the result warranted further patient investigation or treatment. In 268 out of 310 cases the DAT was negative by both methods. Of the 42 patients with a positive DAT, the test was positive by both methods in 18 patients. In the remaining 24 cases the DAT was positive by the gel test only. In all cases positive by both techniques the test result affected patient management. Of the 24 cases that were positive only by gel test, 3 were judged to be clinically significant. In this study, the gel test was more sensitive than the tube technique for performance of the DAT. However, the clinical significance of a DAT positive only by a gel test is doubtful. We believe that use of the gel-based DAT should be more extensively evaluated before it is adopted as a standard technique in general clinical laboratory practice.

Tuberculosis del sistema nervioso en hospitales estatales de Honduras / Nervous system tuberculosis in state hospitals in Honduras

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