Association between phenotype and deletion size in 22q11.2 microdeletion syndrome: systematic review and meta-analysis.

BACKGROUND: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power. RESULTS: Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (ORAB v/s AC-AD: 0.654 [0.408-1.046]; OR AD v/s AB-AC: 1.291 [0.860-1.939]) or palate anomalies (ORAB v/s AC-AD: 1.731 [0.708-4.234]; OR AD v/s AB-AC: 0.628 [0.286-1.382]). CONCLUSIONS: The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.

Building a network for multicenter, prospective research of central nervous system infections in South America: Process and lessons learned.

Multicenter collaborative networks are essential for advancing research and improving clinical care for a variety of conditions. Research networks are particularly important for central nervous system infections, which remain difficult to study due to their sporadic occurrence and requirement for collection and testing of cerebrospinal fluid. Establishment of long-term research networks in resource-limited areas also facilitates diagnostic capacity building, surveillance for emerging pathogens, and provision of appropriate treatment where needed. We review our experience developing a research network for encephalitis among twelve hospitals in five Peruvian cities since 2009. We provide practical suggestions to aid other groups interested in advancing research on central nervous system infections in resource-limited areas.

Effect of heavy metals and organic matter on root exudates (low molecular weight organic acids) of herbaceous species: An assessment in sand and soil conditions under different levels of contamination.

Bioavailability of heavy metals can be modified by different root exudates. Among them, low molecular weight organic acids (LMWOAs) play an important role in this process. Three plant species (Poa annua, Medicago polymorpha and Malva sylvestris), potentially used for phytoremediation, have been assessed for both metal uptake and LMWOAs excretion in contaminated environments with different concentrations of Cd, Cu and Zn. The experiments have been carried out in washed sand and in three contaminated soils where two organic amendments were added (biosolid compost and alperujo compost). The most abundant LMWOAs excreted by all studied plants were oxalic and malic acids, although citric and fumaric acids were also detected. The general tendency was that plants responded to an increase of heavy metal stress releasing higher amounts of LMWOAs. This is an efficient exclusion mechanism reducing the metal uptake and allowing the plant growth at high levels of contamination. In the experiment using wash sand as substrate, the organic acids composition and quantity depended mainly on plant species and metal contamination. M. polymorpha was the species that released the highest concentrations of LMWOAs, both in sand and in soils with no amendment addition, whereas a decrease of these acids was observed with the addition of amendments. Our results established a clear effect of organic matter on the composition and total amount of LMWOAs released. The increase of organic matter and nutrients, through amendments, improved the soil quality reducing phytotoxicity. As a result, organic acids exudates decreased and were solely composed of oxalic acid (except for M. polymorpha). The release of LMWOAs has proved to be an important mechanism against heavy metal stress, unique to each species and modifiable by means of organic amendment addition.

Piscirickettsiosis and Piscirickettsia salmonis in fish: a review.

The bacterium Piscirickettsia salmonis is the aetiological agent of piscirickettsiosis a severe disease that has caused major economic losses in the aquaculture industry since its appearance in 1989. Recent reports of P. salmonis or P. salmonis-like organisms in new fish hosts and geographical regions have increased interest in the bacterium. Because this gram-negative bacterium is still poorly understood, many relevant aspects of its life cycle, virulence and pathogenesis must be investigated before prophylactic procedures can be properly designed. The development of effective control strategies for the disease has been limited due to a lack of knowledge about the biology, intracellular growth, transmission and virulence of the organism. Piscirickettsiosis has been difficult to control; the failure of antibiotic treatment is common, and currently used vaccines show variable long-term efficacy. This review summarizes the biology and characteristics of the bacterium, including its virulence; the infective strategy of P. salmonis for survival and evasion of the host immune response; the host immune response to invasion by this pathogen; and newly described features of the pathology, pathogenesis, epidemiology and transmission. Current approaches to the prevention of and treatment for piscirickettsiosis are discussed.

[Chronic tophaceous gout]. / Gota tofácea crónica.

Gout is a common illness, usually of unknown etiology, is more frequent in men, and with a prevalence that increases with age. It is characterized by recurrent episodes of acute arthritis due to the deposition of monosodium urate crystals in joints. The underlying disorder in most cases is hyperuricemia, usually as a consequence of impairment in its renal excretion. Although it is generally believed that both the diagnosis and treatment are simple, the truth is that the level of adherence of clinical decisions using the existing guidelines is poor. We describe a case of chronic tophaceous gout, and review the general characteristics of this condition.

Gota tofácea crónica / Chronic tophaceous gout

La gota es una entidad frecuente, habitualmente de causa desconocida, de predominio en varones y cuya prevalencia aumenta con la edad. Se caracteriza por episodios recidivantes de artritis aguda debidos al depósito de cristales de urato monosódico en las articulaciones. El trastorno subyacente en la mayoría de los casos es la hiperuricemia, habitualmente por defecto de su excreción renal. Aunque en general se piensa que tanto el diagnóstico como el tratamiento son sencillos, lo cierto es que el grado de adhesión de las decisiones clínicas a las guías existentes es escaso. Se describe un caso de gota tofácea crónica, y se revisan las características generales de la entidad (AU)

Gout is a common illness, usually of unknown etiology, is more frequent in men, and with a prevalence that increases with age. It is characterized by recurrent episodes of acute arthritis due to the deposition of monosodium urate crystals in joints. The underlying disorder in most cases is hyperuricemia, usually as a consequence of impairment in its renal excretion. Although it is generally believed that both the diagnosis and treatment are simple, the truth is that the level of adherence of clinical decisions using the existing guidelines is poor. We describe a case of chronic tophaceous gout, and review the general characteristics of this condition (AU)

Cladosporium cladosporioides LPSC 1088 produces the 1,8-dihydroxynaphthalene-melanin-like compound and carries a putative pks gene.

Cladosporium cladosporioides is a dematiaceous fungus with coloured mycelia and conidia due to the presence of dark pigments. The purpose of this study was to characterize the dark pigments synthetized by Cladosporium sp. LPSC no. 1088 and also to identify the putative polyketide synthase (pks) gene that might be involved in the pigment biosynthesis. Morphological as well as molecular features like the ITS sequence confirmed that LPSC 1088 is Cladosporium cladosporioides. UV-visible, Fourier Transform Infrared (FTIR) and Electron Spin Resonance (ESR) spectroscopy analysis as well as melanin inhibitors suggest that the main dark pigment of the isolate was 1,8 dihydroxynaphthalene (DHN)-melanin-type compound. Two commercial fungicides, Difenoconazole and Chlorothalonil, inhibited fungal growth as well as increased pigmentation of the colonies suggesting that melanin might protect the fungus against chemical stress. The pigment is most probably synthetized by means of a pentaketide pathway since the sequence of a 651 bp fragment, coding for a putative polyketide synthase, is highly homologous to pks sequences from other fungi.

First molecular identification of Diphyllobothrium dendriticum plerocercoids from feral rainbow trout (Oncorhynchus mykiss) in Chile.

Between April and June 2009, 1,075 feral rainbow trout from 10 different lakes involved with aquaculture activities in Los Lagos Region, Chile, were inspected for Diphyllobothrium species. All viscera and muscles of the fish were examined using stereomicroscopy; pyloric cecae and stomachs infected with plerocercoids were checked by histology and scanning electron microscopy. Plerocercoids of Diphyllobothrium dendriticum were confirmed by PCR and sequencing of COI and 18S rRNA + ITS1 + 5.8S rRNA + ITS2 genes for the first time in Chile. Overall prevalence of plerocercoids of D. dendriticum was 9.2% (99/1,075) in Los Lagos Region and 17.4% (99/570) for Chiloe Island. Plerocercoids were not detected in the continental lakes of the Los Lagos Region (Chapo, Rupanco, and Llanquihue). Tarahuín Lake exhibited a prevalence of 50.9% (81/159), Cucao Lake 5.1% (4/79), Natri Lake 4.7% (5/107), Huillinco Lake 3.6% (5/138), and San Antonio Lake 66.7% (4/6). Abundance was 1.1 plerocercoid larvae per fish (1,169 larvae/1,075 fish). All the plerocercoids were found encysted in the viscera of the fish. Plerocercoids were 10.9 ± 3 (7-16) mm long by 0.4 ± 0.2 (0.2-0.6) mm wide. The scolex was enlarged, with 2 bothria and a frontal pit. The body was covered with short capilliform filitriches, 4-6 mm long. The Chilean COI and 18SrRNA + ITS1 + 5.8SrRNA + ITS2 gene sequences indicated 96.34-96.52% and 99% similarity with D. dendriticum sequences, respectively. Diphyllobothrium dendriticum is reported for the first time in freshwater ecosystems as far as 43 ° S on Chiloe Island. These findings and previous reports of plerocercoids of Diphyllobothrium spp. in farmed rainbow trout at Tarahuín Lake support the putative life cycle of this parasite in lakes of southern Chile where there are aquaculture activities.

Hipopotasemia severa aguda secundaria a voriconazol. Causas farmacológicas infrecuentes de hipopotasemia / No disponible

No disponible

Endohelminth parasites from salmonids in intensive culture from southern Chile.

A total of 228 salmonids (90 Oncorhynchus mykiss, 48 Oncorhynchus kisutch, and 90 Salmo salar) from 8 intensive aquaculture centers in the south of Chile were examined for endohelminths parasites between December 2008 and May 2009. The body cavities of 2 O. mykiss were infected by Diphyllobothrium sp. plerocercoids (prevalence: 6.7%, mean intensity: 1.0, mean abundance: 0.07) from the Lake Tarahuin hatchery on the south of Chiloé Island. Also, tetraphyllidean plerocercoids (prevalence: 3.3%, mean intensity: 1, mean abundance: 0.03) and fourth-stage larvae of Hysterothylacium aduncum (prevalence: 6.7%, mean intensity: 1, mean abundance 0.07) were observed in O. kisutch from a marine hatchery in Chiloé. The occurrences of Diphyllobothrium sp. in a lake and a tetraphyllidean plerocercoid from marine cultured salmonid in Chiloé are reported for first time. No muscular infection by helminths was recorded in the fish examined.

Evolutionary history of Trypanosoma cruzi according to antigen genes.

Trypanosoma cruzi, the agent of Chagas disease is associated with a very high clinical and epidemiological pleomorphism. This might be better understood through studies on the evolutionary history of the parasite. We explored here the value of antigen genes for the understanding of the evolution within T. cruzi. We selected 11 genes and 12 loci associated with different functions and considered to be involved in host-parasite interaction (cell adhesion, infection, molecular mimicry). The polymorphism of the respective genes in a sample representative of the diversity of T. cruzi was screened by PCR-RFLP and evolutionary relationships were inferred by phenetic analysis. Our results support the classification of T. cruzi in 2 major lineages and 6 discrete typing units (DTUs). The topology of the PCR-RFLP tree was the one that better fitted with the epidemiological features of the different DTUs: (i) lineage I, being encountered in sylvatic as well as domestic transmission cycles, (ii) IIa/c being associated with a sylvatic transmission cycle and (iii) IIb/d/e being associated with a domestic transmission cycle. Our study also supported the hypothesis that the evolutionary history of T. cruzi has been shaped by a series of hybridization events in the framework of a predominant clonal evolution pattern.

Cribado de aneurisma de aorta abdominal en población de riesgo: revisión sistemática / Screening for abdominal aortic aneurysm in a population at risk: a systematic review

Objetivo. Evaluar el cribado poblacional del aneurisma de aorta abdominal (AAA) en grupos de riesgo. Materialesy métodos. Revisión sistemática de la bibliografía utilizando las bases de datos Medline, Embase, HTA y CochraneLibrary. La selección de los artículos se realizó mediante la lectura de sus resúmenes y aplicando una serie de criteriosde inclusión y exclusión. Se procedió a la lectura crítica a texto completo, al análisis y extracción de sus resultadosy a la elaboración de un nuevo metaanálisis. Resultados. Se seleccionó una revisión sistemática, un metaanálisis y seisartículos retrospectivos, y se llegó a los siguientes resultados: a) el cribado de AAA reduce el porcentaje de roturas y lamortalidad específica por esta causa, recomendándose en hombres entre 65 y 75 años, con carácter único y medianteecografía abdominal; b) se recomienda la cirugía cuando el aneurisma es > 5-5,5 cm, presenta un crecimiento > 1 cm/ añoo cuando produce síntomas, entre 3 y 3,9 cm se recomienda el seguimiento anual, entre 4 y 5,4 cm la vigilancia cada 3-6meses o su derivación a cirugía y no se recomienda reevaluar aquellos pacientes con diámetro aórtico < 2,5 cm; y c) la implementaciónde un programa de cribado en el Sistema Nacional de Salud precisa una infraestructura apropiada y asegurarla integración de los diferentes elementos participantes, recomendándose la realización de estudios pilotos previosen áreas sanitarias determinadas. Conclusión. El cribado de AAA reduce la proporción de morbimortalidad específicapor esta causa, cuando se realiza en hombres entre 65 y 75 años

Aim. To evaluate the mass screening for abdominal aortic aneurysm (AAA) in at risk groups. Materials andmethods. We performed a systematic review of the literature using the databases Medline, Embase, HTA, and theCochrane Library. Relevant articles were selected by reading the abstracts found in the search and applying series ofinclusion and exclusion criteria. Afterwards, the entire text was read critically and the results were extracted andanalyzed. A new meta-analysis is being carried out. Results. One systematic review, one meta-analysis and sixretrospective articles were selected. We have the following results: a) it is recommended the mass screening for AAA inmen 65-75 years of age carried out by means of abdominal ultrasound; b) it is recommend the following up of patientswhen the AAA is equal or more than 3 cm and the treatment with open surgery or endovascular repair of AAA if AAA isat 5-5,5 cm, it presents a growth bigger than 1 cm/year, and/or when the patient presents symptoms; and c) to implementa screening program in the National Health System, appropriate infrastructures are required and the integration of thedifferent elements should be assured. It will have important repercussions on human health and on the organization.Before setting up a screening program an assessment should be made of the reality of the National Health System,carrying out previously pilot studies to determine the factibility in certain health areas. Conclusion. Screening for AAAreduces the specific morbility and mortality due to this cause, when it is carried out among men aged 65 to 75 years

Autoevaluación del aprendizaje en enfermería con ejercicios interactivos del programa Hot Potatoes / Self-evaluation of nursing learning with Hot Potatoes interactive exercises

Introducción. Los ejercicios interactivos de autoevaluación son una herramienta muy útil para fomentar el aprendizaje autónomo del estudiante. El programa Hot Potatoes permite el diseño de actividades interactivas para la evaluación formativa, con la incorporación de un sistema de retroacción que refuerza los contenidos no asimilados cuando la respuesta no es correcta. El objetivo de estudio es averiguar la opinión de los estudiantes sobre la utilización del programa Hot Potatoes. Materiales y métodos. Estudio descriptivo transversar en la promoción 2006-2007 de la asignatura Enfermería Maternal II. Los datos se recogieron a través de un cuestionario diseñado ad hoc. Resultados. Los ejercicios mejor valorados y considerados de menor dificultad fueron los de múltiple; los más dificiles fueron los textos desordenados y los ejercicios de rellenar huecos. Todos los estudiantes consideraron que el método motivó si interés por la asignatura y facilitó su aprendizaje. El 71% considera que el método le ha servido para adquirir conocimientos y ha sido muy útil como herramienta de estudio. Los aspectos que consideran más interesantes incluyen que: son un método de repaso y estudio, facilitan el aprendizaje de una forma amena y permiten conocer el nivel de conocimientos y corregir los errores durante el aprendizaje. entre los aspectos que mejorarían destacan que incluirían más ejercicios y un número de preguntas más elevado. Conclusiones. El método ha tenido una buena aceptación y ha fomentado el aprendizaje autónomo. consideramos que se trata de una estrategia de autoevaluación adecuada para la adaptación a los nuevos créditos europeos (ECTS) (AU)

The interactive exercises of self-assessment are a very useful tool to foster the autonomous learning of the student. The suite Hot Potatoes allows the design of interactive activities for the formative evaluation, incorporating a system of feedback the reinforce the nor assimilated contents when the answer is not correct. The aim of study is to find out the students opinion about the utilization of the suit Hot Potatoes. Materials and methods. Cross-sectional descriptive study in Barcelona University students from Maternity Nursing. Date were gathered through a questionnaire designed ad hoc. Results. The exercises better appraised and the considerated of less difficulty ones were those of multiple-choice; the most difficult, the matching texts and gap-fill exercises. All students considered that the method had motivated their interest in the subject and it had facilitated their learning. 71% considers that the method has been useful as a study tool. The aspects that the students consider more interesting include that: they are a method of review and study, it facilitates the learning in a pleasant way, and it allows to know the level of knowledge and to correct the errors during the leraning. Among the aspects that would improve they would include more exercises and questions. Conclusions. The method has had a good acceptance and has fostered the autonomous learning. We consider that it is a self-assessment tool suitable for the adaptation of the new European Credit Transfer System (AU)

Dendroremediation of heavy metal polluted soils.

Heavy metals are among the most common and harmful pollutants reaching the soil ecosystem all over the world. Phytoextraction is an effective, non-intrusive, inexpensive, aesthetically pleasing, socially accepted, highly promising phytotechnology for the remediation of soils polluted with heavy metals. To overcome the so-called 'Achilles' heel' of phytoextraction, namely, the long time needed for effective remediation, this phytotechnology should be combined with other profit-making activities such as forestry or bioenergy production. Dendroremediation, or the use of trees to clean up polluted soil and water, appears of great potential for metal phytoextraction, especially when using fast-growing tree species, for example, willows (Salix sp. pl.) and poplars (Populus sp. pl.). Most important, the ecologic and environmental risks of dispersing heavy metals into the ecosystems by dendroremediation strategies should be minimized by selecting the right tree species, properly managing/disposing the polluted plant material, or a combination of both options.

Palliation of malignant aerodigestive fistulae with self-expanding metallic stents.

Malignant aerodigestive fistulae are rare but devastating sequelae of thoracic cancers, most commonly associated with esophageal cancer. Survival following development of a malignant aerodigestive fistula is measured in weeks. Palliation is the primary goal of therapy and to this end, we report the use of self-expanding metallic stents (SEMS) as treatment. Between May 1999 and January 2004, 12 patients were treated for malignant aerodigestive fistulae. The underlying diagnosis was esophageal cancer for 10 patients, and non-small cell lung cancer for two others. All patients were symptomatic and fistulae were diagnosed by esophagoscopy in seven, bronchoscopy in two, and esophagram in three. Seven covered Wallstents (seven esophageal) and eight covered Ultraflex (five tracheal and three esophageal) were used. A single stent was placed in eight patients (seven esophageal and one tracheal). Three patients required esophageal and tracheal stents and one patient needed two tracheal stents. General anesthesia was required in 50% of the patients. There were no procedure-related complications. Symptoms were palliated in 100% of patients and oral intake was reinstituted in 42% (5/12). All the patients were discharged from hospital after SEMS placement and one patient returned for an uneventful tracheal stent replacement secondary to mucus impaction 2 months later. SEMS placement is an effective strategy to palliate malignant aerodigestive fistulae. Complications are rare and symptoms are alleviated in most patients.

Phytoextraction and phytofiltration of arsenic.

Arsenic, a ubiquitous contaminant in groundwater and soils, is currently drawing much public attention. Arsenic-contaminated soils can be cleaned up via phytoextraction-the use of plants to extract the arsenic from soil and transport it into aboveground tissues. Arsenic removal from polluted soils can be carried out using hyperaccumulator ferns like the Chinese brake fern Pteris vittata, which accumulates very high concentrations of the element in aboveground tissues. The capacity of the plant to take up large concentrations of arsenic, even at low levels in soil, illustrates efficient bioaccumulation. The possibility of using Pteris ferns to remove arsenic from water by phytofiltration has been proposed.

Recommendations for treatment with IMRT for prostate and head-neck cancer. Axencia de Avaliación de Tecnoloxías Sanitarias de Galicia.

Intensity-modulated radiation therapy (IMRT) is an advanced form of radiotherapy for the treatment of cancer that allows, on one hand, to administer a more homogeneous dose to the patients on the volume to irradiate (which would increase the local control of the disease), and on the other hand, to diminish the toxicity in the organs at risk. This type of treatment is based on imaging techniques, on computer dosimetry programs, and on more precise immobilization accessories. Before delivering IMRT it is necessary to establish a protocol that includes the different phases of the treatment process, that is, the obtaining of anatomical data, beam definition, calculation, dose distribution, and treatment performance and control. In this article we present the basic standards for the IMRT treatment for prostate and head-neck cancer agreed upon a consensus meeting. The follow-up of the recommendations settled down in this document will help in the establishment of a standardized clinical practice -assuring the quality- and a better evaluation of the results of the clinical intervention.