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1.
Acta Chir Plast ; 60(1): 22-25, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30939880

RESUMEN

In this report, we describe an innovative bolstering technique that resulted in successful skin graft take to the floor of the mouth when the teeth and alveolus were unavailable for anchorage.


Asunto(s)
Boca/cirugía , Trasplante de Piel/métodos , Proceso Alveolar/cirugía , Humanos , Mucosa Bucal/cirugía , Técnicas de Sutura , Diente/cirugía
2.
Mol Psychiatry ; 19(8): 872-9, 2014 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-24126926

RESUMEN

Schizophrenia (SZ) and autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that may share an underlying pathology suggested by shared genetic risk variants. We sequenced the exonic regions of 215 genes in 147 ASD cases, 273 SZ cases and 287 controls, to identify rare risk mutations. Genes were primarily selected for their function in the synapse and were categorized as: (1) Neurexin and Neuroligin Interacting Proteins, (2) Post-synaptic Glutamate Receptor Complexes, (3) Neural Cell Adhesion Molecules, (4) DISC1 and Interactors and (5) Functional and Positional Candidates. Thirty-one novel loss-of-function (LoF) variants that are predicted to severely disrupt protein-coding sequence were detected among 2 861 rare variants. We found an excess of LoF variants in the combined cases compared with controls (P=0.02). This effect was stronger when analysis was limited to singleton LoF variants (P=0.0007) and the excess was present in both SZ (P=0.002) and ASD (P=0.001). As an individual gene category, Neurexin and Neuroligin Interacting Proteins carried an excess of LoF variants in cases compared with controls (P=0.05). A de novo nonsense variant in GRIN2B was identified in an ASD case adding to the growing evidence that this is an important risk gene for the disorder. These data support synapse formation and maintenance as key molecular mechanisms for SZ and ASD.


Asunto(s)
Trastornos Generalizados del Desarrollo Infantil/genética , Predisposición Genética a la Enfermedad/genética , Mutación/genética , Proteínas del Tejido Nervioso/genética , Esquizofrenia/genética , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Población Blanca/genética
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