Overview of recurrent chromosomal losses in retinoblastoma detected by low coverage next generation sequencing.

Genes are frequently lost or gained in malignant tumors and the analysis of these changes can be informative about the underlying tumor biology. Retinoblastoma is a pediatric intraocular malignancy, and since deletions in chromosome 13 have been described in this tumor, we performed genome wide sequencing with the Illumina platform to test whether recurrent losses could be detected in low coverage data from DNA pools of Rb cases. An in silico reference profile for each pool was created from the human genome sequence GRCh37p5; a chromosome integrity score and a graphics 40 Kb window analysis approach, allowed us to identify with high resolution previously reported non random recurrent losses in all chromosomes of these tumors. We also found a pattern of gains and losses associated to clear and dark cytogenetic bands respectively. We further analyze a pool of medulloblastoma and found a more stable genomic profile and previously reported losses in this tumor. This approach facilitates identification of recurrent deletions from many patients that may be biological relevant for tumor development.

Regresión de ambliopía en adulto con corrección óptica luego de neuropatía óptica isquémcia anterior no arterítica embolica conralateral / Visual recovery in amblyopia with optical correction after conralateral embolic non-arteritic anterior ischemic optic neuropathy

Introducción. La ambliopía se considera ampliamente como un proceso irreversible si se inicia manejo luego de la primera década de la vida. Existen reportes escasos de mejoría de la agudeza visual en adultos que han presentado pérdida funcional de su ojo bueno. La neuropatía óptica isquémica anterior no arterítica suele deberse a fenómenos locales de hipoperfusión de la cabeza del nervio óptico. Aunque rara, se ha descrito isquemia por émbolos, principalmente secundarios a fenómenos tromboembólicos de origen cardíaco. Caso Clínico. Presentamos el caso de un paciente de 52 años, ambliope del ojo izquierdo por anisometropía alta, quien presenta pérdida funcional de su mejor ojo debido a una neuropatía óptica isquémica anterior no arterítica de tipo embólico. El fenómeno embólico se presentó en el contexto de un reemplazo valvular cardíaco. Luego de corrección óptica (lente de contacto), la agudeza visual del ojo ambliope, mejoró notablemente. Conclusiones. Inferimos que puede existir algún grado de plasticidad cerebral en por lo menos una proporción de adultos. Está justificada la terapia óptica en pacientes ambliopes, ante la pérdida de su mejor ojo. Aunque no es frecuente, debe tenerse presente como origen de una neuropatía óptica isquémica anterior, los fenómenos embólicos, sobre todo en pacientes con enfermedades valvulares cardíacas (AU)

Introduction. It is widely accepted that amblyopia is an irreversible event if treated beyond the first decade of life. However there is evidence of visual acuity improvement in adults, especially after the loss of the good eye. Non Arteritic anterior ischemic optic neuropathyis most frequently secondary to hypoperfusion of the optic nerve head.There have been reported a few cases of embolic anterior optic neuropathy, mainly in patients with cardiac diseases. Case Report. We present the case of a 52 year old man, with an anisometropic amblyopia, who developed an embolic anterior optic neuropathy, leading to functional loss of his good eye. The embolic phenomenon occurred in the setting of a heart valve replacement surgery. After optical correction there was a sound improvement in visual acuity of the previously amblyopic eye. Conclusions. We conclude that some degree of plasticity could persist in a subgroup of adult patients. This is sufficient enough to justify the optic treatment in amblyopic patients, especially with the loss of the sound eye. Even if it is rare, embolus should be considered in the differential diagnosis of the anterior ischemic neuropathy, specifically in the setting of heart valve conditions (AU)

First Report of Fusarium Rot Caused by Fusarium oxysporum on Lemon in Tucumán, Argentina.

Fusarium rot is considered a minor disease of citrus fruits. Several Fusarium species have been associated with fruit decay, most commonly F. lateritium Nees, F. moniliforme J. Sheld., F. oxysporum Schltdl., and F. solani (Mart.) Sacc. (2,3). In the winters of 2007, 2009, 2010, and 2011, lemon [Citrus limon (L.) Burm. f.] fruit with white mycelium covering the peduncle were submitted to the Phytopathology Lab at the Estación Experimental Agroindustrial Obispo Colombres. All fruit samples from Tucumán, Argentina, were stored in boxes kept in packinghouse for more than 1 month. In 2007 only, light to dark brown flavedo around the peduncle was observed in less than 1% of the sample fruit received. No internal breakdown was visible. No change in rind color was observed in the samples received in remaining years. Abundant Fusarium sp. conidia were observed on the mycelium. Colonies with white to violet fluffy aerial mycelium developed on potato dextrose agar (PDA) and produced abundant ovoid or oblong microconidia (1.9 to 3.6 × 4.8 to 10.8 µm), usually unicellular, borne in false heads on short monophialides, and loculated slightly falcate macroconidia were mostly three to five septate (2.4 to 4.8 × 19.2 to 31.2 µm). Unbranched and branched-monophialidic conidiophores were observed. Simple or paired chlamydospores developed on synthetic nutrient agar (1 g KH2PO4, 1 g KNO3, 0.5 g MgSO4.7H2O, 0.5 g KCl, 0.2 g sucrose, and 20 g agar/liter distilled water). On the basis of morphological and cultural criteria, 22 isolates were identified as F. oxysporum (4) designated as D1 to D22. Morfological identification was confirmed by PCR (1) using genomic DNA extracted from the mycelium of pure culture, and an amplified product of 70 bp, specific for the species F. oxysporum, was obtained. The internal transcribed spacer (ITS) region of rDNA was amplified using the primers ITS4/ITS5 and secuenced. BLAST analysis of the 600 bp segment showed a 100% indentity with F. oxysporum, strains CCF 4362 and 1166 (GenBank Accession Nos. HE974454 and FR731133, respectively). Pathogenicity tests were conducted twice by inoculating 10 surface-disinfected wounded lemon fruit. A rind disc (5 mm in diameter and 1 mm deep) near the stem end was removed and a 5-mm-diameter agar disc of D2 isolate (grown at 25°C for 5 days on PDA) was attached to the wound replacing the rind disc. The inoculation site was covered with moistened cotton wool and the fruit were wrapped in plastic bags to prevent the inoculum from drying out. Ten control fruit were inoculated with uncultured PDA plugs (5 mm in diameter). All fruit were maintained in a growth chamber at 25°C under humid conditions. After 5 to 6 days, all inoculated fruit showed white aerial mycelium, initially on the inoculation site and then on the peduncle, similar to that observed on naturally infected fruit. After 20 days, two fruit developed stem end dry rot and showed peduncle fall but no internal breakdown was visible. Control fruit developed any symptom as described above. F. oxysporum was consistently reisolated from infected tissues, completing Koch's postulates. To our knowledge, this is the first report of Fusarium rot caused by F. oxysporum on lemon in Tucumán, Argentina. References: (1) V. Edel et al. Mycol. Res. 104:518, 2000. (2) H. S. Fawcett. Citrus Diseases and Their Control, 1936. (3) A. Z. Joffe and M. Schiffmann-Nadel. Fruits 27:117, 1972. (4) P. E. Nelson et al. Fusarium species: An Illustrated Manual for Identification, 1983.

[High-altitude retinopathy]. / Retinopatía de gran altura.

CASE REPORT: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range). DISCUSSION: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain.

Retinopatía de gran altura / High-altitude retinopathy

Caso Clínico: Varón de 36 años que presenta pérdida súbita de visión central, durante una expedición al Daulaghiri (cordillera del Himalaya), de 8.167 m de altitud. Discusión: Las hemorragias retinianas de la altura son una manifestación frecuente en montañeros que superan los 5.500 m de altitud. Según su localización puede cursar deforma asintomática y suele evolucionar favorablemente. En caso de afectación macular, la visión disminuye de forma drástica y el pronóstico es incierto(AU)

Case report: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range).Discussion: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500 m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain(AU)

Analysis of community composition of biofilms in a submerged filter system for the removal of ammonia and phenol from industrial wastewater.

The bacterial diversity of a submerged filter, used for the removal of ammonia and phenol from an industrial wastewater with high salinity, was studied by a cultivation-independent approach based on PCR/TGGE (temperature-gradient gel electrophoresis). The wastewater treatment plant (laboratory scale) combined the nitrification and denitrification processes and consisted of two separated columns (one anoxic and one aerated) connected through a valve. The spatial diversity of bacterial communities in the plant biofilms was analysed by taking samples at four different heights in the system. TGGE profiles of PCR-amplified sequences of the 16 S rRNA gene (V3-hypervariable region) showed significant variations of the bacterial diversity, mainly depending on the concentration of O(2) along the system. Several bands separated by TGGE were reamplified and sequenced, in order to explore the composition of the microbial communities in the biofilms. Most of the sequenced bands (10 out of 13) were closely related to the 16 S rRNA gene of marine alpha-proteobacteria, mainly grouping in the periphery of the genus Roseobacter. Other sequences were related to those of gamma-proteobacteria, the nitrite oxidizer Nitrospira marina and anaerobic phenol-degrading bacteria of the Desulfobacteraceae.

Detection of DNA hybridization by ABEI electrochemiluminescence in DNA-chip compatible assembly.

The electrochemiluminescence (ECL) of a luminol derivate (ABEI) generated both by a carbon electrode and a polypyrrole-coated carbon electrode was examined. It was found that the polypyrrole film (ppy) did not inhibit the ECL. After that, ABEI anchored on a single stranded DNA target (ODNt) has been used for the ECL detection of the hybridization between a complementary single stranded DNA probe (ODNp) covalently linked to a polypyrrole support and the ODNt. The ECL detection has been performed using a DNA sensor having a low surface concentration of ODNp probes, constituted of a polypyrrole copolymer electrosynthesized from a pyrrole-ODNp/pyrrole monomer ratio of 1/20,000.

Psicosis posparto asociada a bromocriptina / Pospartum psychosis and bromocriptine

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Psicosis postpart o asociada a bromocriptina / Postpartum psychosis induced by bromocriptine

No disponible

[Evaluation of the morphology of stapedial reflex in otosclerosis. Provoked otosclerotic stapedial reflex]. / Evolución de la morfología del reflejo estapedial a lo largo del curso de la otoesclerosis. Reflejo estapedial otoesclerótico provocado.

Stapedial reflex is used, amongst other pathologies, for the study of otosclerosis. In this retrospective study we have collected 188 cases of patients with otosclerosis whose diagnosis has been confirmed surgically and their first line relatives. We have performed a descriptive analysis of audiometric tests, tympanometries and ipsilateral stapedial reflexes in relation with the evolutive phase of the disease. Transmission hypoacusis has been seen in 54%, mixed hypoacusis in 29% and sensorineural hypoacusis 8% of cases. On and OFF stapedial reflexes have been seen in 18%, inverted reflexes in 46% and absent reflexes in 27% of cases. The original drawings of the different types of reflexes during the evolution of otosclerosis can be seen in the four figures shown in the study: normal reflexes; ON and OFF a, b and c types; inverted a and b; and absent reflexes. The clinical evolutive phase and the audiometric and impedance tests have been correlated. Through Chi-square (p < 0.001), we have obtained a statistical significance in relation to the use of stapedial reflexes. Also it has been suggested the use of provoked stapedial reflexes in patients with sub clinical otosclerosis in order to diagnose the disease. We conclude that the knowledge of the evolutive morphology os stapedial reflexes in otosclerosis helps diagnostic capacity.

Regulatory role of tetraspanin CD9 in tumor-endothelial cell interaction during transendothelial invasion of melanoma cells.

Heterotypic interaction among tumor cells (TCs) and endothelial cells (ECs) may play a critical role during the vascular dissemination of neoplastic cells and during pathologic angiogenesis in tumors. To identify molecules involved in these processes, the distribution of vascular junctional proteins was first studied by immunofluorescence at sites of heterologous intercellular contact using TC-EC mosaic monolayers grown on 2-dimensional collagen. Several members of the tetraspanin superfamily, including CD9, CD81, and CD151, were found to localize at the TC-EC contact area. The localization of tetraspanins to the TC-EC heterologous contact area was also observed during the active transmigration of TCs across EC monolayers grown onto 3-dimensional collagen matrices. Dynamic studies by time-lapse immunofluorescence confocal microscopy showed an active redistribution of endothelial CD9 to points of melanoma insertion. Anti-CD9 monoclonal antibodies were found to specifically inhibit the transendothelial migration of melanoma cells; the inhibitory effect was likely caused by a strengthening of CD9-mediated heterotypic interactions of TCs to the EC monolayer. These data support a novel mechanism of tetraspanin-mediated regulation of TC transcellular migration independent of TC motility and growth during metastasis and a role for these molecules in the formation of TC-EC mosaic monolayers during tumor angiogenesis.

Recognition of carbohydrate epitopes specific for electron-dense granule antigens from Entamoeba histolytica by monoclonal antibodies in the cecal content of infected hamsters.

The pathogenic trophozoites of Entamoeba histolytica produce and secrete electron-dense granules (EDG) containing collagenase, considered a virulence factor. Two monoclonal antibodies (MAbs) (L7.1 and L1.1) anti-EDG antigens were raised. MAb L7.1 has been reported to recognize proteic EDG antigens and MAb L1.1 reacted with a carbohydrate epitope. These epitopes were present in axenic and xenic amoebas. To detect EDG antigens by a enzyme-linked immunosorbent assay (ELISA) in a experimental model of early intestinal amoebiasis, both MAbs were employed. E. histolytica HM1 axenic and monoxenic trophozoites were inoculated into the cecum according to the washed-closed cecal loop technique. The cecal content was recovered at 8, 24, and 48 h post-inoculation. Antigens from EDG in whole trophozoites and cell-free supernatants were detected. Our results indicate that it is possible to detect EDG antigens in the cecal content of hamsters in the early phase of the invasive amoebiasis.

Detección de un trastorno de la alimentación tras una fibrilación ventricular / Detection of an eating disorder alfter ventricular fibrillation

Es sabido que los defectos nutricionales son una de las causas de alteraciones cardiacas(arritmias). Los trastornos de la conducta alimentaria pueden manifestarse como fallo cardiaco y muerte súbita combinados con alteraciones psicosomáticas. Los trastornos de la conducta alimentaria, como la anorexia nerviosa y la bulimia nerviosa están asociados con potenciales consecuencias negativas. La anorexia nerviosa está asociada con un riesgo importante de muerte y suicidio. La malos resultados están en relación directa con la larga evolución de la enfermedad. La detección primaria tiene un importante papel en el diagnóstico y manejo de los trastornos de la conducta alimentaria. (AU)

Genetic isolation by distance among Aedes aegypti populations along the northeastern coast of Mexico.

A population genetic analysis of gene flow was conducted among 10 Aedes aegypti collections from seven cities along the northeastern coast of Mexico. Four collections were made from Monterrey to examine local patterns of gene flow. Markers included 60 random amplified polymorphic DNA (RAPD) loci amplified by the polymerase chain reaction and single strand conformation polymorphism analysis of variation in a 387-basepair region of the NADH dehydrogenase subunit 4 from the mitochondrial DNA (mtDNA). Seven mitochondrial haplotypes were detected and phylogenetic analysis identified two well-supported clades. Regression analysis of geographic distances and pairwise FST estimated from RAPD markers indicated that populations are isolated by distance and that free gene flow occurs among collections within 90-250 km. Isolation by distance was not detected using mtDNA haplotypes. The Nuevo Laredo collection had unique RAPD and mtDNA haplotype frequencies and reduced heterozygosity suggesting that few mosquitoes established this population.

[Allergic fungal sinusitis: recent developments]. / Sinusitis alérgica micótica: conceptos actuales.

Allergic fungal sinusitis is a recently reported disease of the nose and paranasal sinuses. Since the first reports by Lamb et al and Katzenstein there has been controversy about its diagnosis and treatment. Recently diagnostic criteria have been suggested. To our judgement they have a high degree of specificity. Allergy to fungi elements is essential. Currently surgical treatment consist in an adequate ventilation of the nose and paranasal sinuses followed by the use of oral and topical steroids. Immunotherapy is controversial and more prospective studies are needed to evaluate its possible use.

Entamoeba histolytica: surface proteolytic activity and its relationship with in vitro virulence.

We determined the surface-associated proteolytic activity in three Entamoeba histolytica Schaudinn, 1903 strains (monoxenic HM1, axenic HM1, and HK9) of known virulence and its relationship with collagenase activity. Both activities were also determined in axenic HM1 amoebae trophozoites which were sensitive and resistant to complement-mediated lysis. Surface proteolytic activity was determined in glutaraldehyde-fixed E. histolytica trophozoites, which degraded the insoluble substrate, hide powder azure, and cleaved the human immunoglobulin G heavy chain in a time-dependent fashion, at neutral pH, in presence of 2-mercaptoethanol as cysteine protease activator. Surface proteolytic activity was strain dependent: monoxenic HM1 > axenic HM1 > axenic HK9. This activity correlated with collagenolytic activity (p < 0.05). Acquisition of resistance to complement-mediated lysis by axenic HM1 strain did not modify either surface proteases or collagenase expression. Our results suggest that this surface proteolytic activity could be used as an in vitro virulence marker for E. histolytica.