Search for Neutrino-Induced Neutral-Current Δ Radiative Decay in MicroBooNE and a First Test of the MiniBooNE Low Energy Excess under a Single-Photon Hypothesis.

We report results from a search for neutrino-induced neutral current (NC) resonant Δ(1232) baryon production followed by Δ radiative decay, with a ⟨0.8⟩ GeV neutrino beam. Data corresponding to MicroBooNE's first three years of operations (6.80×10^{20} protons on target) are used to select single-photon events with one or zero protons and without charged leptons in the final state (1γ1p and 1γ0p, respectively). The background is constrained via an in situ high-purity measurement of NC π^{0} events, made possible via dedicated 2γ1p and 2γ0p selections. A total of 16 and 153 events are observed for the 1γ1p and 1γ0p selections, respectively, compared to a constrained background prediction of 20.5±3.65(syst) and 145.1±13.8(syst) events. The data lead to a bound on an anomalous enhancement of the normalization of NC Δ radiative decay of less than 2.3 times the predicted nominal rate for this process at the 90% confidence level (C.L.). The measurement disfavors a candidate photon interpretation of the MiniBooNE low-energy excess as a factor of 3.18 times the nominal NC Δ radiative decay rate at the 94.8% C.L., in favor of the nominal prediction, and represents a greater than 50-fold improvement over the world's best limit on single-photon production in NC interactions in the sub-GeV neutrino energy range.

First Measurement of Energy-Dependent Inclusive Muon Neutrino Charged-Current Cross Sections on Argon with the MicroBooNE Detector.

We report a measurement of the energy-dependent total charged-current cross section σ(E_{ν}) for inclusive muon neutrinos scattering on argon, as well as measurements of flux-averaged differential cross sections as a function of muon energy and hadronic energy transfer (ν). Data corresponding to 5.3×10^{19} protons on target of exposure were collected using the MicroBooNE liquid argon time projection chamber located in the Fermilab booster neutrino beam with a mean neutrino energy of approximately 0.8 GeV. The mapping between the true neutrino energy E_{ν} and reconstructed neutrino energy E_{ν}^{rec} and between the energy transfer ν and reconstructed hadronic energy E_{had}^{rec} are validated by comparing the data and Monte Carlo (MC) predictions. In particular, the modeling of the missing hadronic energy and its associated uncertainties are verified by a new method that compares the E_{had}^{rec} distributions between data and a MC prediction after constraining the reconstructed muon kinematic distributions, energy, and polar angle to those of data. The success of this validation gives confidence that the missing energy in the MicroBooNE detector is well modeled and underpins first-time measurements of both the total cross section σ(E_{ν}) and the differential cross section dσ/dν on argon.

Search for an Excess of Electron Neutrino Interactions in MicroBooNE Using Multiple Final-State Topologies.

We present a measurement of ν_{e} interactions from the Fermilab Booster Neutrino Beam using the MicroBooNE liquid argon time projection chamber to address the nature of the excess of low energy interactions observed by the MiniBooNE Collaboration. Three independent ν_{e} searches are performed across multiple single electron final states, including an exclusive search for two-body scattering events with a single proton, a semi-inclusive search for pionless events, and a fully inclusive search for events containing all hadronic final states. With differing signal topologies, statistics, backgrounds, reconstruction algorithms, and analysis approaches, the results are found to be either consistent with or modestly lower than the nominal ν_{e} rate expectations from the Booster Neutrino Beam and no excess of ν_{e} events is observed.

Search for a Higgs Portal Scalar Decaying to Electron-Positron Pairs in the MicroBooNE Detector.

We present a search for the decays of a neutral scalar boson produced by kaons decaying at rest, in the context of the Higgs portal model, using the MicroBooNE detector. We analyze data triggered in time with the Fermilab NuMI neutrino beam spill, with an exposure of 1.93×10^{20} protons on target. We look for monoenergetic scalars that come from the direction of the NuMI hadron absorber, at a distance of 100 m from the detector, and decay to electron-positron pairs. We observe one candidate event, with a standard model background prediction of 1.9±0.8. We set an upper limit on the scalar-Higgs mixing angle of θ<(3.3-4.6)×10^{-4} at the 95% confidence level for scalar boson masses in the range (100-200) MeV/c^{2}. We exclude, at the 95% confidence level, the remaining model parameters required to explain the central value of a possible excess of K_{L}^{0}→π^{0}νν[over ¯] decays reported by the KOTO collaboration. We also provide a model-independent limit on a new boson X produced in K→πX decays and decaying to e^{+}e^{-}.

First Measurement of Differential Charged Current Quasielasticlike ν_{µ}-Argon Scattering Cross Sections with the MicroBooNE Detector.

We report on the first measurement of flux-integrated single differential cross sections for charged-current (CC) muon neutrino (ν_{µ}) scattering on argon with a muon and a proton in the final state, ^{40}Ar (ν_{µ},µp)X. The measurement was carried out using the Booster Neutrino Beam at Fermi National Accelerator Laboratory and the MicroBooNE liquid argon time projection chamber detector with an exposure of 4.59×10^{19} protons on target. Events are selected to enhance the contribution of CC quasielastic (CCQE) interactions. The data are reported in terms of a total cross section as well as single differential cross sections in final state muon and proton kinematics. We measure the integrated per-nucleus CCQE-like cross section (i.e., for interactions leading to a muon, one proton, and no pions above detection threshold) of (4.93±0.76_{stat}±1.29_{sys})×10^{-38} cm^{2}, in good agreement with theoretical calculations. The single differential cross sections are also in overall good agreement with theoretical predictions, except at very forward muon scattering angles that correspond to low-momentum-transfer events.

Insulin-like growth factor-1 deficiency and metabolic syndrome.

Consistent evidence associates IGF-1 deficiency and metabolic syndrome. In this review, we will focus on the metabolic effects of IGF-1, the concept of metabolic syndrome and its clinical manifestations (impaired lipid profile, insulin resistance, increased glucose levels, obesity, and cardiovascular disease), discussing whether IGF-1 replacement therapy could be a beneficial strategy for these patients. The search plan was made in Medline for Pubmed with the following mesh terms: IGF-1 and "metabolism, carbohydrate, lipids, proteins, amino acids, metabolic syndrome, cardiovascular disease, diabetes" between the years 1963-2015. The search includes animal and human protocols. In this review we discuss the relevant actions of IGF-1 on metabolism and the implication of IGF-1 deficiency in the establishment of metabolic syndrome. Multiple studies (in vitro and in vivo) demonstrate the association between IGF-1 deficit and deregulated lipid metabolism, cardiovascular disease, diabetes, and an altered metabolic profile of diabetic patients. Based on the available data we propose IGF-1 as a key hormone in the pathophysiology of metabolic syndrome; due to its implications in the metabolism of carbohydrates and lipids. Previous data demonstrates how IGF-1 can be an effective option in the treatment of this worldwide increasing condition. It has to distinguished that the replacement therapy should be only undertaken to restore the physiological levels, never to exceed physiological ranges.

Altered liver expression of genes involved in lipid and glucose metabolism in mice with partial IGF-1 deficiency: an experimental approach to metabolic syndrome.

BACKGROUND: Insulin growth factor 1 (IGF-1) has multiple effects on metabolism. Much evidence suggests that the deficiency of this hormone increases insulin resistance, impairs lipid metabolism, augments oxidative damage and deregulates the neuro-hormonal axis. An inverse relationship between IGF-1 levels and the prevalence of Metabolic Syndrome (MetS) with its cardiovascular complications has been identified. However, the underlying mechanisms linking IGF-1 and MetS are still poorly understood. In order to elucidate such mechanisms, the aim of this work was to study, in mice with partial IGF-1 deficiency, liver expression of genes involved in glucose and lipid metabolism as well as serum levels of glucose, triglycerides and cholesterol, as well as liver malondialdehyde (MDA) levels, as a marker for oxidative damage. METHODS: Three experimental groups were studied in parallel: Controls (CO), wild type mice (igf-1 (+/+)); untreated heterozygous mice (Hz, igf-1 (+/-)) and Hz (igf-1 (+/-)) mice treated with low doses of IGF-1 for 10 days (Hz + IGF-1). RESULTS: A reduction of IGF-1 serum levels in the Hz group was found, which was normalized by IGF-1 therapy. Serum levels of glucose, triglycerides and cholesterol were significantly increased in the untreated Hz group as compared to both controls and Hz + IGF-1 groups. The expression of genes involved in gluconeogenesis, glycogenolysis, lipid synthesis and transport, and catabolism were altered in untreated Hz animals and the expression of most of them was normalized by IGF-1 therapy; MDA was also significantly increased in the Hz untreated group. CONCLUSIONS: The mere partial IGF-1 deficiency is responsible for the reduction in the expression of genes involved in glucose and lipid metabolism, resulting in dyslipidemia and hyperglycemia. Such genetic alterations may seriously contribute to the establishment of MetS.

Implications of retinal effects observed in chronic toxicity studies on the clinical development of a CNS-active drug candidate.

The development path described for JNJ-26489112 provides perspectives on interpretation of retinal effects observed in nonclinical studies and their implications for clinical development. JNJ-26489112 is a CNS-active investigational drug that has potential as a novel treatment for treatment-resistant and bipolar depression, epilepsy, and neuropathic/inflammatory pain. In a 6-month toxicity study in albino rats, retinal atrophy was observed at supratherapeutic exposures to JNJ-26489112. The histopathological changes and topography of the lesions were characteristic of light-induced damage specific to albino rats. The species/strain specificity is supported by an absence of any ocular effects in dogs and in pigmented and albino rats, housed under standard and reduced lighting, respectively. To further evaluate its potential to cause ocular effects, in vivo functional and structural ocular analyses were included in a 9-month monkey toxicity study. Reductions in rod- and cone-mediated electroretinograms were observed at supratherapeutic exposures but without any histopathologic changes. These data suggested that the effects of JNJ-26489112 in monkeys were neuromodulatory and not neurotoxic. Taken together, data related to the light-induced atrophy in albino rats and reversible neuromodulatory effects in monkeys, supported the safe evaluation of JNJ-26489112 in a clinical proof-of-concept study that included comprehensive functional and structural ocular monitoring.

Macular optical coherence tomography findings and GPR143 mutations in patients with ocular albinism.

The aim of this study was to describe macular findings using spectral-domain optical coherence tomography (SD-OCT) in patients with ocular albinism (OA) and their carrier mothers, and to identify the frequency of GPR143 gene mutations in these patients. The study included five patients with a clinical diagnosis of OA. SD-OCT of the macular area was performed in both patients and their mothers. The anatomical characteristics of the macula and retinal pigment epithelium (RPE), patterns of autofluorescence and infrared imaging were analyzed. Polymerase chain reaction amplification of the complete coding sequence of GPR 143 was performed and subsequently analyzed by direct sequencing in patients and their possible carrier mothers. SD-OCT images revealed the presence of inner retinal layers in the fovea, an abnormal disposition of the Henle layer and a lack of thickening in the perifoveal area. We found increased thickness in the RPE to the outer segment and in the outer segment to the outer nuclear layer that is associated with increased visual acuity. Autofluorescence images revealed an absence of normal hipoautofluorescence in the fovea. No changes were observed in the images of their carrier mothers. Mutation screening and sequence analysis of the GPR 143 gene revealed a novel pathological mutation in two patients. Abnormalities in the macula were observed in all patients. SD-OCT is a useful tool for the assessment of patients with OA. No changes were observed in the SD-OCT of carrier mothers. Only two patients had the GPR143 gene mutation.

Gene therapy restores vision in a canine model of childhood blindness.

The relationship between the neurosensory photoreceptors and the adjacent retinal pigment epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of hereditary retinal degenerations. The molecular bases for both primary photoreceptor and RPE diseases that cause blindness have been identified. Gene therapy has been used successfully to slow degeneration in rodent models of primary photoreceptor diseases, but efficacy of gene therapy directed at photoreceptors and RPE in a large-animal model of human disease has not been reported. Here we study one of the most clinically severe retinal degenerations, Leber congenital amaurosis (LCA). LCA causes near total blindness in infancy and can result from mutations in RPE65 (LCA, type II; MIM 180069 and 204100). A naturally occurring animal model, the RPE65-/- dog, suffers from early and severe visual impairment similar to that seen in human LCA. We used a recombinant adeno-associated virus (AAV) carrying wild-type RPE65 (AAV-RPE65) to test the efficacy of gene therapy in this model. Our results indicate that visual function was restored in this large animal model of childhood blindness.

[Morphological analysis of the hippocampal region associated with an innate behaviour task in the transgenic mouse model (3xTg-AD) for Alzheimer disease]. / Análisis morfológico de la región del hipocampo asociado a una tarea conductual innata en el modelo de ratón transgénico (3xTg-AD) para la enfermedad de Alzheimer.

INTRODUCTION: Different animal models for Alzheimer disease (AD) have been designed to support the hypothesis that the neurodegeneration (loss of neurons and synapses with reactive gliosis) associated with Aß and tau deposition in these models is similar to that in the human brain. These alterations produce functional changes beginning with decreased ability to carry out daily and social life activities, memory loss, and neuropsychiatric disorders in general. Neuronal alteration plays an important role in early stages of the disease, especially in the CA1 area of hippocampus in both human and animal models. METHODS: Two groups (WT and 3xTg-AD) of 11-month-old female mice were used in a behavioural analysis (nest building) and a morphometric analysis of the CA1 region of the dorsal hippocampus. RESULTS: The 3xTg-AD mice showed a 50% reduction in nest quality associated with a significant increase in damaged neurons in the CA1 hippocampal area (26%±6%, P<.05) compared to the WT group. CONCLUSIONS: The decreased ability to carry out activities of daily living (humans) or nest building (3xTg-AD mice) is related to the neuronal alterations observed in AD. These alterations are controlled by the hippocampus. Post-mortem analyses of the human hippocampus, and the CA1 region in 3xTg-AD mice, show that these areas are associated with alterations in the deposition of Aß and tau proteins, which start accumulating in the early stages of AD.

[Clinical profile and non-recreational methamphetamine abuse (shabu) among stroke patients in the Philippine population]. / Perfil clínico y abuso de metanfetamina no recreativa (shabú) entre los pacientes con ictus en la población filipina.

INTRODUCTION: Chronic non-recreational use of methamphetamine (shabu) is increasing among the Filipino population in Barcelona. The Asian population presents a different stroke pattern, with a higher incidence of haemorrhage, and different vascular risk factors and health behaviours. The objective of this study is to describe the stroke profile and incidence of methamphetamine use in patients of Filipino origin admitted to our centre. PATIENTS AND METHODS: Demographic data, vascular risk factors, clinical data and prognosis were recorded. Methamphetamine exposure was analysed in plasma samples collected on admission, which were then analysed by liquid chromatography-mass spectrometry. RESULTS: Of a total of 6,418 stroke patients, 73 (1.1%) were identified as being of Filipino origin. The mean age was 54.4 ± 12.1 years, 54% were male and the stroke was ischaemic in 64.4% of cases. Arterial hypertension was the main risk factor. Ten (13.7%) patients tested positive for methamphetamine and amphetamine. These results confirm recent substance use prior to the stroke, mostly in men (80%). In patients who were consumers, 60% had a haemorrhagic stroke, with a poor functional prognosis at three months in 55.6% of patients. CONCLUSIONS: In our setting, patients of Filipino ethnicity admitted for stroke related to the consumption of shabu belonged a younger age bracket, with a lower prevalence of vascular risk factors and a predominance of the haemorrhagic subtype. Methamphetamine testing in Filipino stroke patients is recommended due to the high prevalence of methamphetamine use in our country.

TITLE: Perfil clínico y abuso de metanfetamina no recreativa (shabú) entre los pacientes con ictus en la población filipina.Introducción. En la población filipina de Barcelona está aumentando el consumo crónico no recreativo de metanfetaminas (shabú). La población asiática presenta un patrón de ictus diferente, con mayor incidencia de hemorragias, y diferentes factores de riesgo vascular y conductas de salud. El objetivo es describir el perfil de ictus e incidencia de consumo de metanfetaminas en pacientes de origen filipino ingresados en nuestro centro. Pacientes y métodos. Se registraron datos demográficos, factores de riesgo vascular, datos clínicos y pronóstico. Se analizó la exposición a metanfetamina en muestras de plasma recogidas en el ingreso, que se analizaron por cromatografía líquida-espectrometría de masas. Resultados. Del total de 6.418 pacientes con ictus, se identificó a 73 pacientes filipinos (1,1%). La edad media era de 54,4 ± 12,1 años, el 54% eran hombres y el ictus era isquémico en el 64,4%. La hipertensión arterial fue el principal factor de riesgo. Diez (13,7%) pacientes dieron positivo a metanfetamina y anfetamina. Estos resultados confirman un consumo reciente de sustancias previo al ictus, principalmente en hombres (80%). En pacientes consumidores, un 60% presentaba un ictus hemorrágico, con mal pronóstico funcional a tres meses en el 55,6% de los pacientes. Conclusiones. En nuestro medio, los pacientes de etnia filipina ingresados por ictus en relación con consumo de shabú presentaron un perfil de edad más joven, con menor prevalencia de factores de riesgo vascular y predominio del subtipo hemorrágico. Se recomienda la determinación de metanfetamina en los pacientes filipinos con ictus debido a la alta prevalencia del consumo de metanfetamina en nuestro país.

rAAV2/5 gene-targeting to rods:dose-dependent efficiency and complications associated with different promoters.

A prerequisite for using corrective gene therapy to treat humans with inherited retinal degenerative diseases that primarily affect rods is to develop viral vectors that target specifically this population of photoreceptors. The delivery of a viral vector with photoreceptor tropism coupled with a rod-specific promoter is likely to be the safest and most efficient approach to target expression of the therapeutic gene to rods. Three promoters that included a fragment of the proximal mouse opsin promoter (mOP), the human G-protein-coupled receptor protein kinase 1 promoter (hGRK1), or the cytomegalovirus immediate early enhancer combined with the chicken ß actin proximal promoter CBA were evaluated for their specificity and robustness in driving GFP reporter gene expression in rods, when packaged in a recombinant adeno-associated viral vector of serotype 2/5 (AAV2/5), and delivered via subretinal injection to the normal canine retina. Photoreceptor-specific promoters (mOP, hGRK1) targeted robust GFP expression to rods, whereas the ubiquitously expressed CBA promoter led to transgene expression in the retinal pigment epithelium, rods, cones and rare Müller, horizontal and ganglion cells. Late onset inflammation was frequently observed both clinically and histologically with all three constructs when the highest viral titers were injected. Cone loss in the injected regions of the retinas that received the highest titers occurred with both the hGRK1 and CBA promoters. Efficient and specific rod transduction, together with preservation of retinal structure was achieved with both mOP and hGRK1 promoters when viral titers in the order of 10(11)vg ml(-1) were used.

Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies.

Over 200 mutations in the retina specific member of the ATP-binding cassette transporter superfamily (ABCA4) have been associated with a diverse group of human retinal diseases. The disease mechanisms, and genotype-phenotype associations, nonetheless, remain elusive in many cases. As orthologous genes are commonly mutated in canine models of human blinding disorders, canine ABCA4 appears to be an ideal candidate gene to identify and study sequence changes in dogs affected by various forms of inherited retinal degeneration. However, the size of the gene and lack of haplotype assignment significantly limit targeted association and/or linkage approaches. This study assessed the naturally observed sequence diversity of ABCA4 in the dog, identifying 80% of novel variations. While none of the observed polymorphisms have been associated with blinding disorders to date, breed and potentially disease specific haplotypes have been identified. Moreover, a tag SNP map of 17 (15) markers has been established that accurately predicts common ABCA4 haplotypes (frequency > 5%) explaining >85% (>80%) of the observed genetic diversity and will considerably advance future studies. Our sequence analysis of the complete canine ABCA4 coding region will clearly provide a baseline and tools for future association studies and comparative genomics to further delineate the role of ABCA4 in canine blinding disorders.

[Sensitivity and specificity of three complementary methods in the diagnosis of carpal tunnel syndrome]. / Sensibilidad y especificidad de tres métodos complementarios para el diagnóstico de síndrome de túnel carpiano.

INTRODUCTION: Currently there is no universally accepted standard of reference for the diagnosis of carpal tunnel syndrome so it is considered a «latent class¼ pathology, that is, it lacks any diagnostic tests that absolutely certain the presence of disease. METHODS: Prospective, observational and analytical study evaluating the three diagnostic methods used for carpal tunnel syndrome (clinical examination, ultrasound and electromyography). Normality values were set for each diagnostic method. RESULTS: 50 people (14 men and 36 women) were evaluated. The clinical examination showed a positive and significant correlation with the diameter of the affected median nerve (ecography) (R = 0.694, p = 0.032). The values of the under the curve area (UCA) for median nerve conduction speed (MNCS), cubital nerve conduction speed (CNCS), and distal latency (DL) by electromyography were 0.60, 0.519 and less than 0.50 respectively. This states that the diagnostic value of electromyography characteristics is bad. CONCLUSION: Our work establishes clinical examination as a good quality tool being the most sensitive method for diagnosing carpal tunnel syndrome. If there was a need for diagnostic confirmation, the ultrasound proved to be a highly satisfactory study generating less stress, pain and invasion to the patient, decreasing health expenditure and speeding up the process.

INTRODUCCIÓN: Actualmente, no existe un estándar de referencia aceptado universalmente para el diagnóstico del síndrome de túnel carpiano, por lo que se le considera una patología de «clase latente¼, es decir, que carece de alguna prueba diagnóstica que dé certeza absoluta de la presencia de la enfermedad. MÉTODOS: Estudio prospectivo, observacional y analítico en el cual se evaluaron los tres métodos diagnósticos utilizados para el síndrome de túnel carpiano (examen clínico, ecografía y electromiografía). En él, se establecieron valores de normalidad para cada método diagnóstico. RESULTADOS: Se evaluó un total de 50 personas (14 hombres y 36 mujeres). El examen clínico presentó correlación positiva y significativa con el diámetro del nervio mediano afectado (ecografía) (R = 0.694 y p = 0.032). Los valores del área bajo la curva (AUC, por sus siglas en inglés) para la velocidad de conducción del nervio mediano (VCNM), velocidad de conducción de nervio cubital (VCNC) y latencia distal motora (LDM) por electromiografía fueron de 0.60, 0.519 y. CONCLUSIÓN: < 0.50, respectivamente, lo cual determinó que el valor diagnóstico de las características por electromiografía es malo. Nuestro trabajo establece al examen clínico como una herramienta de buena calidad, siendo el método más sensible para el diagnóstico de síndrome de túnel carpiano. Si existiera la necesidad de realizar una confirmación diagnóstica, la ecografía mostró ser un estudio altamente satisfactorio, el cual genera menos estrés, dolor e invasión al paciente, disminuyendo, a su vez, el gasto de salud y agilizando el proceso.

[Distal radius intraarticular fractures: fluoroscopy reduction versus arthroscopic assistance. Systematic review]. / Fracturas intraarticulares de radio distal: reducción bajo fluoroscopía versus asistencia artroscópica. Revisión sistemática.

INTRODUCTION: Intraarticular distal radius fractures are a therapeutic challenge for the orthopedist surgeon there are studies that support the use of fluoroscopy, and others promote arthroscopy, with this work we try to summarize the evidence, to determine whether arthroscopic assistance provides additional benefits to avoid joint incongruities compared to results obtained under fluoroscopic assistance. MATERIAL AND METHODS: Systematic search for prospective, retrospective, cohort, follow-up, clinical trials on PubMed, MEDLINE, Scopus, Scielo, Embase, Google Scholar and other national sources, including as keywords the terms: "intra-articular distal radius fracture", "wrist arthroscopy", "arthroscopy", "fluoroscopy". The average values and standard offsets for each characteristic, obtained from the selected works, were analyzed using descriptive statistics and illustrative graphs. RESULTS: 463 patients (256 women and 207 men) were evaluated, with an average age of 48.29 years and range from 39 to 64 years. The two treatments (A and F) were homogeneous in terms of the age of the patients reporting (p = 0.5820) and the average follow-up time (p = 0.9597). Only the ulnar deviation and DASH score, for which the arthroscopy group performed best, in the remaining variables the differences were not significant. CONCLUSION: The evidence available to date is conflicting, and does not allow recommendations to be made for or against these interventions, finding other factors that could influence decision-making.

INTRODUCCIÓN: Las fracturas intraarticulares de radio distal son un desafío terapéutico para el cirujano ortopedista. Hay estudios que avalan el uso de la fluoroscopía y otros promueven la artroscopia. Con este trabajo intentamos resumir la evidencia, para determinar si la asistencia artroscópica aporta beneficios adicionales para evitar incongruencias articulares en comparación con los resultados obtenidos bajo asistencia fluoroscópica. MATERIAL Y MÉTODOS: Búsqueda sistemática de estudios prospectivos, retrospectivos, de cohortes, seguimiento, ensayos clínicos en PubMed, MEDLINE, Scopus, Scielo, Embase, Google Scholar y otras fuentes nacionales, incluyendo como palabras clave los términos. RESULTADOS: intraarticular distal radius fracture, wrist arthroscopy, arthroscopy, fluoroscopy. Los valores medios y desvíos estándar para cada característica, obtenidos de los trabajos seleccionados fueron analizados usando estadística descriptiva y gráficos ilustrativos. Fueron evaluados 463 pacientes (256 mujeres y 207 hombres), con una edad promedio de 48.29 años y rango de 39 a 64 años. Los dos tratamientos (A y F) fueron homogéneos en cuanto a la edad de los pacientes que reportan (p = 0.5820) y el tiempo de seguimiento promedio (p = 0.9597). Sólo la desviación cubital y el DASH, para las cuales el grupo de artroscopía tuvo mejor desempeño, en las variables restantes las diferencias no fueron significativas. CONCLUSIÓN: La evidencia disponible hasta la fecha es controvertida y no permite hacer recomendaciones a favor o en contra de estas intervenciones, encontrando otros factores que podrían influir en la toma de decisiones.

Comparative genomic mapping of uncharacterized canine retinal ESTs to identify novel candidate genes for hereditary retinal disorders.

PURPOSE: To identify the genomic location of previously uncharacterized canine retina-expressed expressed sequence tags (ESTs), and thus identify potential candidate genes for heritable retinal disorders. METHODS: A set of over 500 retinal canine ESTs were mapped onto the canine genome using the RHDF(5000-2) radiation hybrid (RH) panel, and the resulting map positions were compared to their respective localization in the CanFam2 assembly of the canine genome sequence. RESULTS: Unique map positions could be assigned for 99% of the mapped clones, of which only 29% showed significant homology to known RefSeq sequences. A comparison between RH map and sequence assembly indicated some areas of discrepancy. Retinal expressed genes were not concentrated in particular areas of the canine genome, and also were located on the canine Y chromosome (CFAY). Several of the EST clones were located within areas of conserved synteny to human retinal disease loci. CONCLUSIONS: RH mapping of canine retinal ESTs provides insight into the location of potential candidate genes for hereditary retinal disorders, and, by comparison with the assembled canine genome sequence, highlights inconsistencies with the current assembly. Regions of conserved synteny between the canine and the human genomes allow this information to be extrapolated to identify potential positional candidate genes for mapped human retinal disorders. Furthermore, these ESTs can help identify novel or uncharacterized genes of significance for better understanding of retinal morphology, physiology, and pathology.

The beta subunit of cyclic GMP phosphodiesterase mRNA is deficient in canine rod-cone dysplasia 1.

Irish setter dogs affected with rod-cone dysplasia 1 have elevated levels of retinal cGMP resulting from deficient rod-specific cGMP phosphodiesterase (cGMP PDE) activity. We investigated the mRNAs coding for the three subunits of cGMP PDE and for the proteins involved in the activation/deactivation of this enzyme in the retinas of developing affected and control dogs. While the photoreceptor cells are viable in the diseased retinas, opsin, transducin alpha 1 and beta 1, 48 and 33 kd proteins, and cGMP PDE alpha and gamma mRNAs have normal transcript sizes and levels. In contrast, a different pattern of cGMP PDE beta mRNAs with lower than normal concentrations is present in the developing affected retinas prior to degeneration. Our observations suggest that an abnormality involving cGMP PDE beta expression is implicated in rod-cone dysplasia 1.

An area within human ventral cortex sensitive to "building" stimuli: evidence and implications.

Isolated, ventral brain lesions in humans occasionally produce specific impairments in the ability to use landmarks, particularly buildings, for way-finding. Using functional MRI, we tested the hypothesis that there exists a cortical region specialized for the perception of buildings. Across subjects, a region straddling the right lingual sulcus was identified that possessed the functional correlates predicted for a specialized building area. A series of experiments discounted several alternative explanations for the behavior of this site. These results are discussed in terms of their impact upon our understanding of the functional structure of visual processing, disorders of topographical disorientation, and the influence of environmental conditions upon neural organization.

Targeting gene expression to cones with human cone opsin promoters in recombinant AAV.

Specific cone-directed therapy is of high priority in the treatment of human hereditary retinal diseases. However, not much information exists about the specific targeting of photoreceptor subclasses. Three versions of the human red cone opsin promoter (PR0.5, 3LCR-PR0.5 and PR2.1), and the human blue cone opsin promoter HB569, were evaluated for their specificity and robustness in targeting green fluorescent protein (GFP) gene expression to subclasses of cones in the canine retina when used in recombinant adeno-associated viral vectors of serotype 5. The vectors were administered by subretinal injection. The promoter PR2.1 led to most effective and specific expression of GFP in the long- and medium-wavelength-absorbing cones (L/M cones) of normal and diseased retinas. The PR0.5 promoter was not effective. Adding three copies of the 35-bp LCR in front of PR0.5 lead to weak GFP expression in L/M cones. The HB569 promoter was not specific, and GFP was expressed in a few L/M cones, some rods and the retinal pigment epithelium. These results suggest that L/M cones, the predominant class of cone photoreceptors in the retinas of dogs and most mammalian species can be successfully targeted using the human red cone opsin promoter.