The Use of Autologous Blood Patch in Ullrich Muscular Dystrophy and Recurrent Pneumothorax.

We present the case of a 19-year-old female with Ullrich congenital muscular dystrophy (UCMD1, a collagen VI defect) who developed a right-sided pneumothorax after choking on a piece of meat. She received two chest tubes (pigtails) that resolved the pneumothorax. She was discharged in stable condition, and a chest radiograph two weeks later showed total resolution of the pneumothorax. Two months after this episode, the patient presented with another small, right-sided pneumothorax that shortly progressed to extension throughout the right side of the chest. These pneumothoraces were treated with three different pigtails, but this intervention was ineffective. Providers chose to utilize an autologous blood patch, which is an injection of the patient's own blood instilled in the pleural cavity through a chest drain. The blood forms a clot and subsequently seals the lung tissues through inflammation. This technique was chosen because the patient had advanced neuromuscular weakness with chronic respiratory failure. Also, our patient was not a candidate for chemical or surgical pleurodesis due to the nature of the persistent pneumothorax and the underlying lung fibrosis and collagen defect. Subsequent reaccumulation of the pneumothorax led to a second blood patch procedure, which proved effective. The patient recovered and was discharged in stable condition with no further episodes of pneumothorax over the subsequent 14 months from the initial episode.

Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers.

Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI) in female cells. XLA is caused by mutations in the Bruton tyrosine kinase (BTK) gene, located in Xq22.1. In this study, XCI is nonrandom or skewed in B-cells. B-cells with an active X-chromosome carrying a BTK mutation do not mature. Peripheral B-cells in XLA carriers inactivate the mutated X-chromosome. Methods: HUMARA was performed using DNA from purified B-cells and total leukocytes. DNA was digested using methylation-sensitive HhaI. The PCR of the HUMARA polymorphic marker was performed with the HhaI digested samples. The lengths of the PCR products were determined. If a suspected carrier showed skewed XCI in their B-cells, the marker length that corresponded with the length determined in the index patient indicated their carrier status. Results: HUMARA was conducted on purified B-cells; this allowed easier identification of the mutated or inactive allele, as the active allele was enzymatically digested. Analysis of 30 possible carriers using modified HUMARA corroborated that the carrier status in all samples that were heterozygous for the marker using XCI calculation for leukocytes showed a Gaussian distribution, while the carrier B-cell DNA showed a skewed XCI. Conclusion: Carrier status was successfully determined for most of the analyzed samples. B-cell enrichment resulted in precise carrier determination data, reduced the sample size, and facilitated inactive and active allele identification.

Electrochemical detector based on a modified graphite electrode with phthalocyanine for the elemental analysis of actinides.

The quantification of actinides in aqueous solutions involves complex and expensive separation processes. Electrochemical methods have been widely used for the quick and accurate identification and quantification of organic and inorganic compounds directly or indirectly. Therefore, this work proposes the use of modified graphite with phthalocyanine for electrochemical detection and quantification of Th, U, Pu, Am, and Cm, in aqueous media by cyclic voltammetry. The electrodes were characterized by Raman and infrared spectroscopy, and the cyclic voltammetry data were modeled with Aoki's model. The detection limits (DL) and the quantification limits (QL) reached by the electrochemical detection of these actinides were of the order of ppt. Aoki's model fitted perfectly with the experimental data. The functionalization of graphite electrodes promotes the formation of phthalic anhydride, and the phthalocyanine is anchored on the epoxy groups of the graphite. The electrochemical detection process of these actinides is indirect. This electrochemical detector is cheap and disposable and can be an alternative for an initial characterization of actinides in liquid waste.

Thin source spraying method for gross alpha/beta measurements with emphasis on alpha/beta particle self-absorption.

Gross alpha/beta analysis is an initial rapid screening technique used to discriminate alpha- and beta-particle emitters in the nuclear industry. Self-absorption in the sample affects the detection; therefore, self-absorption curves must be constructed. Beta and alpha self-absorption curves were constructed under different conditions. Results reproducibility depends on uniformity of the dry residue on planchets. To determine and compare activities correctly, the preparation method of the sample must be identical to the ones measured the construction of the self-absorption curves.

Decontamination of radioactive metal surfaces by electrocoagulation.

The decontamination of noncompactable radioactive wastes, such as tools and equipment, aims to reduce the waste volume to be conditioned and stored. The electrocoagulation (EC) application in the decontamination of noncompactable radioactive waste from stainless steel containing uranium, was studied to evaluate its technical viability. The first studies were carried out with stainless steel plates coated with WO3 to simulate a fixed contamination and to determine the best tungsten removal conditions via EC considering pH, electrolyte support, distance between the electrodes, cell potential and counter-electrode material. The best removal conditions for WO3 were applied to plates contaminated with UO2(NO3)2 to evaluate the viability of the EC decontamination process. Uranium removal efficiencies of 90% were obtained in 1 h, at pH of 1, 2.4 V and 1 cm of distance between anode / cathode in a circular array. The EC process, under the previously obtained conditions, was applied to two metallic pieces contaminated with U. It proved feasible to decontaminate metallic pieces through the EC process, thus being able to obtain up to 90% U removal efficiency; however, it is important that the surfaces of the parts are free of grease and dust.

Mercury bioaccumulation patterns in fish from the Iténez river basin, Bolivian Amazon.

The bioaccumulation mechanism expresses an increment of mercury concentration along the lifetime of each individual. It is generally investigated along the age or size range of organisms from a same population. Water chemistry and trophic position are important factors that may influence the emergence of bioaccumulation patterns. In order to detect the influence of these parameters on fish mercury bioaccumulation patterns, we explored the relations between mercury concentration, size and isotopic trophic position of fish populations of six species (three non piscivorous and three piscivorous) in three rivers of the Iténez basin (Bolivia) with different sediment load in water and anthropogenic impact. Fishes of the Iténez basin showed fairly lower mercury contamination in relation to the regional context. They presented lower total mercury concentrations in unperturbed clear water river (average of 0.051 µg g(-1) for non piscivores; 0.088 µg g(-1) for piscivores), intermediate values (average of 0.05 and 0.104 µg g(-1)) in unperturbed white water river, whereas the highest values (average of 0.062 and 0.194 µg g(-1)) were found in the perturbed clear water river. Piscivore and invertivore species showed significant positive bioaccumulation patterns in the perturbed river and in the unperturbed white water river. No positive pattern was detected in the unperturbed clear water river. Positive patterns could not be attributed to differences in trophic condition and mean fish mercury concentration between populations. Bioaccumulation seems not to be the main factor to explain increased mercury concentrations in fish from the perturbed river.