The authors describe a 5-year-old girl who developed a Noonan syndrome-like disorder as a result of the CBL c.1194C>G/p.His398Gln variant, including headache, papilledema, intracranial hypertension, ...hyperproteinorrhachia, leucorrhachia, and brain inflammation and vasculitis with CD3 positive lymphocyte infiltration. The patient responded partially to corticosteroids, acetazolamide, and ventriculoperitoneal valve placement. The serum cytokine profile revealed persistently elevated levels of IL-1 RA, IL-2R alpha, IL-6, IL-18, MCP-1, and MCP-3. Cyclophosphamide was used as a bridge to allogeneic hematopoietic stem cell transplantation in this case.
Angiogenesis is a requirement for the sustained growth and proliferation of solid tumors, and the development of new compounds that induce a sustained inhibition of the proangiogenic signaling ...generated by tumor hypoxia still remains as an important unmet need. In this work, we describe a new antiangiogenic compound (22) that inhibits proangiogenic signaling under hypoxic conditions in breast cancer cells. Compound 22 blocks the MAPK pathway, impairs cellular migration under hypoxic conditions, and regulates a set of genes related to angiogenesis. These responses are mediated by HIF-1α, since the effects of compound 22 mostly disappear when its expression is knocked-down. Furthermore, administration of compound 22 in a xenograft model of breast cancer produced tumor growth reductions ranging from 46 to 55% in 38% of the treated animals without causing any toxic side effects. Importantly, in the responding tumors, a significant reduction in the number of blood vessels was observed, further supporting the mechanism of action of the compound. These findings provide a rationale for the development of new antiangiogenic compounds that could eventually lead to new drugs suitable for the treatment of some types of tumors either alone or in combination with other agents.
BACKGROUND AND OBJECTIVEAnkylosing spondylitis (AS) is an inflammatory disease, and choroidal thickness (CT) has been proposed and evaluated as a potential marker of systemic inflammation associated ...with AS and other inflammatory diseases. This study compared CT measurements taken from patients with severe AS disease activity without eye inflammation with those taken from healthy subjects.
METHODSThis cross-sectional, multicenter study compared CT in 44 patients with high AS disease activity, and no history of eye inflammation with CT in 44 matched healthy subjects aged between 18 and 65 years. In the AS group, the correlation between CT and C-reactive protein, human leukocyte antigen (HLA) B27 positivity, disease duration, and disease activity was calculated.
RESULTSMean CT values of patients with AS were significantly higher in the right eye, the left eye, and the thickest choroid eye. The right eye mean CT was 338.3 ± 82.8 μm among patients with AS and 290.5 ± 71.2 μm among healthy subjects (p = 0.005). The left eye mean CT was 339.5 ± 84.7 μm for patients with AS and 298.4 ± 68.9 μm for healthy subjects (P = 0.015). The thickest choroid eye CT was 358.4 ± 82.1 μm among patients with AS and 314.1 ± 65.2 μm among healthy subjects (P = 0.006). We did not find a significant correlation between CT and disease activity, C-reactive protein, human leukocyte antigen B27 positivity, or disease duration.
CONCLUSIONSPatients with active AS but without a history of eye inflammation had a thicker choroid than healthy subjects. This finding suggests that CT is a marker of systemic inflammation in patients with inflammatory disease, regardless of known eye symptoms.
To examine whether image processing of non-mydriatic DRI Triton SS-OCT (Topcon Corporation, Tokyo, Japan) using the red free filter could assess the presence of choroidal nodules and thus include ...their detection as a diagnostic criterion in neurofibromatosis type 1 (NF1).
We included 417 eyes from 210 patients, 377 - from 190 patients diagnosed with NF1 according to the criteria established by the National Institutes of Health Consensus Development Conference (NIH) and 40 from 20 healthy patients as a control group. The mean age was 9.4 years (range 2 years–18 years). All patients had their visual acuity measured by a test according to age, were examined for the presence of lisch nodules and an Optical Coherence Tomography (OCT) of the macular area was performed. All the OCT images were analysed to check if visible nodules could be identified.
Ages 14 (95% CI=(9.7,18.3)) and 12 years (95% CI=(9.1,14)) are the cut-off points that best separate those with choroidal nodules with Triton OCT and lisch with slit lamp, respectively, from those without. lisch nodules were detected in 50% of cases of NF1 patients. The presence of choroidal nodules did not present a statistically significant correlation with the occurrence of optic pathway glioma (p = 0.96) nor with the patient's visual worsening (p = 0.072). A statistically significant correlation was observed between the presence of choroidal nodules and the presence of lisch nodules (p < 0.05).
The Topcon Triton OCT red free tool would not be a good tool to detect choroidal nodules in patients with NF1 because of its low sensitivity. If the presence of choroidal nodules were to be included in the diagnostic criteria for NF1, it would be convenient to use a device with red and infrared radiations.
Purpose:
To study the subfoveal choroidal thickness (SFCT), macular ganglion cell layer (GCL-IPL) and central macular thickness (CMT) in Caucasian children, and to analyze these optical coherence ...tomography (OCT) parameters depending on the spherical equivalent (SE).
Methods:
Cross-sectional study of SFCT, GCL-IPL, and CMT in Caucasian children, analyzed with spectral-domain OCT Cirrus 5000 and Enhanced-depth imaging technique. Correlation between these three OCT parameters, age, sex, and spherical equivalent was analyzed. The eyes were classified into three groups: group 1 included eyes with SE < 0, group 2 included eyes with SE between 0 and +2.00, and group 3 eyes with SE > +2.00.
Results:
Hundred ninety-eight eyes of 121 subjects were studied. The mean age was 9.22 years (range 3–16); 61.1% were female. The mean SFCT was 351.04 ± 84.08 µm, being 310.04 ± 82.84µm in group 1 (n = 62), 373.14 ± 83.16 µm in group 2 (n = 71) and 365.18 ± 73.16 µm in group 3 (n = 65); statistically significant differences were found between groups 2 and 3, compared with group 1. GCL-IPL thickness was significantly thinner (p < 0.001) in group 1, compared with group 3. There were no statistically significant differences between the three groups regarding CMT. Correlation with age, and sex was not found.
Conclusions:
SFCT and GCL-IPL thickness were significantly thinner (p < 0.001) in myopic children when compared with a non-myopic pediatric population. However, it seems that there is not a correlation among the three OCT parameters studied, age and sex, when they are analyzed depending on refractive error.
INTRODUCTIONRecently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset ...global delay, dysmorphic facial features, auditory disorder, and reduced vision. MATERIALS AND METHODSWe report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly. RESULTSThe identical compound heterozygous missense mutations in the TELO2gene were found in each. Ophthalmologically, both siblings were diagnosed with progressive congenital bilateral nuclear-lamellar cataracts. CONCLUSIONSWe report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.
Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, ...dysmorphic facial features, auditory disorder, and reduced vision.
We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly.
The identical compound heterozygous missense mutations in the TELO2gene were found in each. Ophthalmologically, both siblings were diagnosed with progressive congenital bilateral nuclear-lamellar cataracts.
We report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.
Introducción: Actualmente, se considera que los docentes son las principales figuras para la implementación de programas de educación emocional. En este contexto, será preciso conocer las creencias e ...ideas de los docentes sobre la educación del aprendizaje social y emocional, en concreto, con respecto a su comodidad de aplicación, a su grado de compromiso y al apoyo percibido de sus respectivos centros educativos. Método: Bajo esta consideración, este trabajo está enfocado en analizar en qué medida el nivel de inteligencia emocional (IE) rasgo de los docentes se relaciona con tales creencias e ideas (comodidad, compromiso y apoyo) que poseen con respecto a la implementación de la educación emocional. Para ello, se analizaron diferencias según nivel de IE rasgo y según el sexo. Se contó con una muestra de 115 profesores de Educación Secundaria y Bachillerato. Los instrumentos utilizados fueron Trait Emotional Intelligence Questionnaire Short Form” (TEIQueSF) y el Domains of SEL Beliefs Scale (DSBS) de Brackett et al. (2012). Resultados: Los resultados revelaron que los docentes muestran puntuaciones medio-altas en IE y que existen diferencias estadísticamente significativas en las creencias del profesorado según sexo y su nivel de IE. Conclusiones: Se concluye de este modo que, por un lado los docentes están comprometidos con la importancia de la impartición de aprendizaje social y emocional, pero no perciben suficiente apoyo por parte de las instituciones educativas, por lo que su nivel de IE rasgo es susceptible de mejora; por otro lado, se evidencia que el profesorado con mayor nivel de IE, mayor es su grado de comodidad para impartir estos aprendizajes emocionales. Finalmente, las docentes parecen tener mayor sensación de apoyo del centro para impartir aprendizajes socioemocionales al alumnado.
Los plaguicidas son sustancias químicas que permiten eliminar las plagas que invaden los cultivos de banano, ayudando a mejorar su producción y comercialización, sin embargo, según la Organización ...Interamericana de la Salud y la Organización Mundial de la Salud se estima que cada año ocurren tres millones de casos de intoxicación aguda por plaguicidas y se reportan entre 80.000 y 220.000 casos de muerte. Los objetivos de la presente investigación fueron diferenciar trabajadores rurales expuestos y no expuestos a plaguicidas e identificar el tipo de plaguicida al que los trabajadores del Recinto San Rafael están expuestos. Se incluyeron 40 pobladores, llevando a cabo todos los protocolos de autorización se procedió a realizar la encuesta a la muestra poblacional, este instrumento se lo aplicó a cada paciente de forma personalizada. Una vez recopilados los datos, estos fueron anonimizados y recogidos en una base de datos creada con el Software Microsoft Office Excel, para posterior análisis estadístico. La edad más representativa de la muestra poblacional fue entre 30-40 años. De acuerdo al grado de exposición el 52.5% de los trabajadores estuvieron expuestos directamente, mientras que el 47.5% tuvieron exposición indirecta, el 80.95% de los trabajadores expuestos a la manipulación y uso de plaguicidas tienen baja instrucción formal. Los plaguicidas más empleados con un 40% fueron los organofosforados seguidos de los bipiridilos con el 12.5%.
