Posterior mediastinal melanoma causing severe dysphagia: A case report

<p>Abstract</p> <p>Introduction</p> <p>We describe an original case of progressive severe dysphagia caused by a posterior mediastinal metastatic melanoma of unknown origin. To the best of our knowledge, such an event has never been described before in the literature.</p> <p>Case presentation</p> <p>A progressive severe dysphagia case is reported induced by a melanoma of unknown origin (metastatic to a posterior mediastinal lymph node). At the time of diagnosis, the lesion appeared as a large posterior mediastinal mass mimicking a neurogenic tumour with oesophageal involvement. After complete resection, pathological assessment of the tumour by immunohistochemistry was consistent with nodal metastatic melanoma.</p> <p>Conclusion</p> <p>This report of a posterior mediastinal lymph node melanoma is unique. The nodal origin is definitely unusual: a primary melanoma should always be carefully ruled out. In fact no other evidence, a part from the absence of the tumour elsewhere, can support the diagnosis of a primary nodal melanoma.</p

Potencial productivo y dinamica de tallos de dos brachiarias a edades de rebrote en otoño: Productive potential and stem dynamics of two brachiarias species at regrowth ages in autumn

La estacionalidad y la frecuencia de cosecha tienen un efecto en la tasa de rebrote en los pastos y pueden disminuir el porcentaje de senescencia y descomposición del forraje, por lo tanto, influyen en el rendimiento, en la calidad y la persistencia de la pradera. El objetivo fue evaluar el potencial productivo y dinámica de tallos de los ecotipos Insurgente (Brachiaria brizantha Hochst. Stapf Cv. Insurgente) y Mulato (Brachiaria hibrido Cv. Mulato II) en tres periodos de corte (21, 42, y 63 días) en Otoño. En el Campus Tuxpan de la Facultad de Ciencias Agropecuarias y Ambientales, de Iguala, Gro. Las variables evaluadas fueron: rendimiento de forraje (kg MS ha-1), producción de componentes morfológicos (HOJA Y TALLO), relación hoja tallo (H:T), densidad poblacional (DPT), tasa de aparición de tallos (TAT), tasa de muerte de tallos (TMT), tasa de sobrevivencia de tallos (TST) e índice de estabilidad de tallos (IET), Se utilizó un diseño de bloques completamente al azar con arreglo bifactorial (Factor 1: Brachiarias, Factor 2: periodos de corte). Los datos se analizaron con el procedimiento ANOVA del paquete estadístico SAS® versión 9.2 para Windows®. La comparación de medias se realizó con la prueba de “t” de “Student” (P&lt;0.05). La producción total de materia seca (4392.7 Kg MS ha-1), la de hoja (3084.8 Kg MS ha-1), la tasa de crecimiento (209.17 Kg MS ha-1) y la relación hoja tallo (4.2943 Kg MS kg-1) fueron afectados por los periodos de corte (P &lt;0001) y por los ecotipos, el Mulato presentó los valores más altos. La mayor producción de hoja, tallo y total de materia seca se presentó en el tercer periodo de corte y de igual forma la tasa de crecimiento. En la dinámica de tallos los ecotipos no presentaron diferencias, los periodos de corte si afectaron a la TAT (81.87 tallos m2) y al IET (1.79), en los que el periodo de corte 1 presento los valores más altos. &nbsp

Synergy between multiple microtubule-generating pathways confers robustness to centrosome-driven mitotic spindle formation.

notes: PMCID: PMC3898610types: Journal Article; Research Support, Non-U.S. Gov'tCopyright © 2014 The Authors. Published by Elsevier Inc. All rights reserved.The mitotic spindle is defined by its organized, bipolar mass of microtubules, which drive chromosome alignment and segregation. Although different cells have been shown to use different molecular pathways to generate the microtubules required for spindle formation, how these pathways are coordinated within a single cell is poorly understood. We have tested the limits within which the Drosophila embryonic spindle forms, disrupting the inherent temporal control that overlays mitotic microtubule generation, interfering with the molecular mechanism that generates new microtubules from preexisting ones, and disrupting the spatial relationship between microtubule nucleation and the usually dominant centrosome. Our work uncovers the possible routes to spindle formation in embryos and establishes the central role of Augmin in all microtubule-generating pathways. It also demonstrates that the contributions of each pathway to spindle formation are integrated, highlighting the remarkable flexibility with which cells can respond to perturbations that limit their capacity to generate microtubules.Biotechnology and Biological Sciences Research Council PhD studentship (to D.H.)Wellcome Trust Institutional Strategic Support Fund WT097835MF (to J.G.W. and J.M.)

Divergent Modulation of Neuronal Differentiation by Caspase-2 and -9

Human Ntera2/cl.D1 (NT2) cells treated with retinoic acid (RA) differentiate towards a well characterized neuronal phenotype sharing many features with human fetal neurons. In view of the emerging role of caspases in murine stem cell/neural precursor differentiation, caspases activity was evaluated during RA differentiation. Caspase-2, -3 and -9 activity was transiently and selectively increased in differentiating and non-apoptotic NT2-cells. SiRNA-mediated selective silencing of either caspase-2 (si-Casp2) or -9 (si-Casp9) was implemented in order to dissect the role of distinct caspases. The RA-induced expression of neuronal markers, i.e. neural cell adhesion molecule (NCAM), microtubule associated protein-2 (MAP2) and tyrosine hydroxylase (TH) mRNAs and proteins, was decreased in si-Casp9, but markedly increased in si-Casp2 cells. During RA-induced NT2 differentiation, the class III histone deacetylase Sirt1, a putative caspase substrate implicated in the regulation of the proneural bHLH MASH1 gene expression, was cleaved to a ∼100 kDa fragment. Sirt1 cleavage was markedly reduced in si-Casp9 cells, even though caspase-3 was normally activated, but was not affected (still cleaved) in si-Casp2 cells, despite a marked reduction of caspase-3 activity. The expression of MASH1 mRNA was higher and occurred earlier in si-Casp2 cells, while was reduced at early time points during differentiation in si-Casp9 cells. Thus, caspase-2 and -9 may perform opposite functions during RA-induced NT2 neuronal differentiation. While caspase-9 activation is relevant for proper neuronal differentiation, likely through the fine tuning of Sirt1 function, caspase-2 activation appears to hinder the RA-induced neuronal differentiation of NT2 cells

An Afro-Brazilian Griot: An Interview with Conceição Evaristo

Conceição Evaristo as she is known in the literary world is an Afro-Brazilian author who has published widely both in Brazil and abroad. Her works range from poetry to essays. Born in 1946 in a favela in Belo Horizonte, the author is nowadays one of the most prominent names in the Afro-Brazilian literary world. Depicting the ‘escrevivência’ as she names it, that is, writing the experience of the marginalised and oppressed, Conceição Evaristo has captivated readers with her deceptively simple character and stories

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study

Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ somatic mutation p.Arg183Gln, while two had PIK3CA mutations. Unexpectedly, 8 of 11 cases of diffuse CM with overgrowth (DCMO) carried known PIK3CA mutations, and the remaining 3 had pathogenic GNA11 variants. Recurrent PIK3CA mutations were identified in the patients with megalencephaly–CM–polymicrogyria (MCAP), CLOVES, and Klippel–Trenaunay syndrome. Interestingly, PIK3CA somatic mutations were associated with hand/foot anomalies not only in MCAP and CLOVES, but also in CMO and DCMO. Two patients with blue rubber bleb nevus syndrome carried double somatic TEK mutations, two of which were previously undescribed. In addition, a novel sporadic case of Parkes Weber syndrome (PWS) due to an RASA1 mosaic pathogenic variant was described. Finally, a girl with a mild PWS and another diagnosed with CMO carried pathogenic KRAS somatic variants, showing the variability of phenotypic features associated with KRAS mutations. Overall, our findings expand the clinical and molecular spectrum of sporadic VMs, and show the relevance of genetic testing for accurate diagnosis and emerging targeted therapies

Two Italian Patients with <i>ELOVL4</i>-Related Neuro-Ichthyosis: Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in ELOVL4 gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed ELOVL4 homozygous frameshift variant c.435dupT (p.Ile146TyrfsTer29), and compound heterozygous variants c.208C>T (p.Arg70Ter) and c.487T>C (p.Cys163Arg), respectively. Both patients were born with collodion membrane followed by development of diffuse mild hyperkeratosis and scaling, localized erythema, and palmoplantar keratoderma. One infant displayed mild facial dysmorphism. They suffered from failure to thrive, and severe gastro-esophageal reflux with pulmonary aspiration. The patients presented axial hypotonia, hypertonia of limbs, and absent head control with poor eye contact from infancy. Visual evoked potentials showed markedly increased latency and poor morphological definition, indicative of alteration of the retro-retinal visual pathways in both patients. Ultrastructural skin examination revealed abnormalities of lamellar bodies with altered release in the epidermal granular and horny layer intracellular spaces. Our findings contribute to expanding the phenotypic and genotypic features of ELOVL4-related neuro-ichthyosis