El síndrome del cromosoma X Frágil: fenotipo conductual y dificultades de aprendizaje

En este artículo se describe el fenotipo conductual de las personas con el Síndrome X Frágil y las repercusiones que tiene en el ámbito educativo. Este síndrome se caracteriza por problemas de integración sensorial, déficits cognitivos (razonamiento verbal, habilidades abstractas/visuales y cuantitativas, memoria a corto plazo, procesamiento secuencial, atención y procesos ejecutivos), trastornos del lenguaje (fonético-fonológicos, semánticos, morfosintácticos y pragmáticos) y de la comunicación, ansiedad social, hiperexcitación general, autismo, dificultades sociales no autistas, déficit de atención e hiperactividad, y dificultades de aprendizaje. El fenotipo conductual es muy variable y depende del sexo, de la edad, y de si estas personas presentan mutación completa o premutación. El fenotipo conductual tiene repercusiones importantes en el ámbito de la educación, ya que nos permite entender las dificultades de aprendizaje y conductuales de las personas con Síndrome del X Frágil, y desarrollar estrategias de intervención específicas

Borderline Intellectual Functioning: Consensus and good practice guidelines

Objectives: To elaborate a conceptual framework and to establish consensus guidelines. Method: A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared. Results: Scientific publications covering BIF are scarce. The term that yields a bigger number of results is ‘‘Borderline Intelligence’’. The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document. Conclusions: It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual

Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder

This study examined whether secondary medical diagnoses that affect CNS function (i.e., seizures, malformations, or genetic disorders), are more likely to occur in individuals with fragile X syndrome (FXS) and autism spectrum disorder (FXS þ ASD) or FXS alone. Ninety males (3-25 years) with FXS or FXS þ ASD were evaluated for secondary medical diagnoses by medical history and examination. A significant difference in the incidence of medical problems was found between patients with FXS þ ASD (38.6%) and FXS alone (18.2%, P < 0.05). Medical problems that affect the CNS are more likely to occur in those with FXS þ ASD and it is probable that additional brain dysfunction associated with these medical problems enhance the risk of autism in those with FXS.

An Ultra‐Long‐Lived Triplet Excited State in Water at Room Temperature: Insights on the Molecular Design of Tridecafullerenes

Suitably engineered molecular systems exhibiting triplet excited states with very long lifetimes are important for high-end applications in nonlinear optics, photocatalysis, or biomedicine. We report the finding of an ultra-long-lived triplet state with a mean lifetime of 93 ms in an aqueous phase at room temperature, measured for a globular tridecafullerene with a highly compact glycodendrimeric structure. A series of three tridecafullerenes bearing different glycodendrons and spacers to the C60 units have been synthesized and characterized. UV/Vis spectra and DLS experiments confirm their aggregation in water. Steady-state and time-resolved fluorescence experiments suggest a different degree of inner solvation of the multifullerenes depending on their molecular design. Efficient quenching of the triplet states by O2 but not by waterborne azide anions has been observed. Molecular modelling reveals dissimilar access of the aqueous phase to the internal structure of the tridecafullerenes, differently shielded by the glycodendrimeric shell

Bactericidal Effect of Photodynamic Therapy, Alone or in Combination with Mupirocin or Linezolid, on Staphylococcus aureus

Antibiotic treatments frequently fail due to the development of antibiotic resistance, underscoring the need for new treatment strategies. Antimicrobial photodynamic therapy (aPDT) could constitute an alternative therapy. In bacterial suspensions of Staphylococcus aureus, which is commonly implicated in cutaneous and mucosal infections, we evaluated the in vitro efficacy of aPDT, using the photosensitizing agents rose bengal (RB) or methylene blue (MB), alone or combined with the antibiotics mupirocin (MU) or linezolid (LN). RB or MB, at concentrations ranging from 0.03 to 10 μg/ml, were added to S. aureus ATCC 29213 suspensions containing >108 cells/ml, in the absence or presence of MU or LN (1 or 10 μg/ml). Suspensions were irradiated with a white metal halide (λ 420–700 nm) or light-emitting diode lamp (λ 515 and λ 625 nm), and the number of viable bacteria quantified by counting colony-forming units (CFU) on blood agar. Addition of either antibiotic had no significant effect on the number of CFU/ml. By contrast, RB-aPDT and MB-aPDT effectively inactivated S. aureus, as evidenced by a 6 log10 reduction in bacterial growth. In the presence of MU or LN, the same 6 log10 reduction was observed in response to aPDT, but was achieved using significantly lower concentrations of the photosensitizers RB or MB. In conclusion, the combination of MU or LN and RB/MB-aPDT appears to exert a synergistic bactericidal effect against S. aureus in vitro

La Cátedra de Antoni Gaudí : estudio analítico de su obra

La presente obra contiene un sustrato expositivo de la arquitectura gaudiniana sobre el sentido naturalista del arte de Gaudí, según la tesis doctoral de Gustavo García Gabarró, dirigida por Juan Bassegoda Nonell quien, a su vez, expone un resumen de los estudios realizados en la Real Cátedra Gaudí a lo largo de 30 años. Mediante este estudio se intenta hacer comprensible a Gaudí a través de su sentido franciscano del mundo y del arte, evitando cualquier enfoque historiográfico o relativo a la morfología descriptiva de los edificios construidos por este especial arquitecto catalán

La Cátedra de Antoni Gaudí : estudio analítico de su obra

La presente obra contiene un sustrato expositivo de la arquitectura gaudiniana sobre el sentido naturalista del arte de Gaudí, según la tesis doctoral de Gustavo García Gabarró, dirigida por Juan Bassegoda Nonell quien, a su vez, expone un resumen de los estudios realizados en la Real Cátedra Gaudí a lo largo de 30 años. Mediante este estudio se intenta hacer comprensible a Gaudí a través de su sentido franciscano del mundo y del arte, evitando cualquier enfoque historiográfico o relativo a la morfología descriptiva de los edificios construidos por este especial arquitecto catalán

La Cátedra de Antoni Gaudí : estudio analítico de su obra

La presente obra contiene un sustrato expositivo de la arquitectura gaudiniana sobre el sentido naturalista del arte de Gaudí, según la tesis doctoral de Gustavo García Gabarró, dirigida por Juan Bassegoda Nonell quien, a su vez, expone un resumen de los estudios realizados en la Real Cátedra Gaudí a lo largo de 30 años. Mediante este estudio se intenta hacer comprensible a Gaudí a través de su sentido franciscano del mundo y del arte, evitando cualquier enfoque historiográfico o relativo a la morfología descriptiva de los edificios construidos por este especial arquitecto catalán