ABSTRACT
Caso clínico: Mujer de 29 años con hemangiomas capilares retinianos (HCR) bilaterales. Ante la sospecha clínica de enfermedad de von Hippel Lindau (VHL), se realizan estudios genéticos que son negativos en 2 ocasiones. Se produce progresión de los HCR del ojo izquierdo, con aparición de membrana epimacular, que son tratados con láser, ranibizumab intravítreo y vitrectomía. Finalmente, el tercer estudio genético detecta una mutación de novo en el gen VHL que permite confirmar el diagnóstico. Discusión: El síndrome de VHL causa una enfermedad ocular compleja y de difícil diagnóstico que requiere tratamiento precoz de los HCR para modificar el pronóstico visual (AU)
Clinical case: A 29-year-old female with bilateral retinal capillary haemangiomas (RCH). A genetic analysis was carried out due to the suspicion of von Hippel-Lindau (VHL) disease, with negative results on 2 occasions. There was progression of the RCH in the left eye, leading to a macular epiretinal membrane. The patient was treated with laser, intravitreal ranibizumab, and vitrectomy. Finally, a third genetic test detected a de novo mutation in the VHL gene, and led to the genetic diagnosis. Discussion: VHL syndrome causes a complex ocular disease with a difficult diagnosis that requires early treatment of the RCH in order to modify its visual prognosis (AU)
Subject(s)
Humans , Female , Adult , von Hippel-Lindau Disease/complications , Hemangioma, Capillary/therapy , Retinal Vasculitis/therapy , Ranibizumab/therapeutic use , Photophobia/etiology , Laser Therapy , Vitrectomy , Genetic Markers , Laser Coagulation/methodsABSTRACT
Phosphoinositides are phosphatidylinositol derived, well known to be second messengers in various cell signaling pathways as well as in processes such as cell differentiation, cellular stress response, gene transcription, and chromatin remodeling. The pleckstrin homology domain of phospholipase C-delta 1 is responsible for recognizing and binding to PI(4,5)P2 and for this reason has been widely used to study this phosphoinositide as a biosensor when it is conjugated to a fluorescent tag. In this work, we modified the primary structure of pleckstrin homology domain by site-specific mutagenesis to change the specificity for phosphoinositides. We obtained 3 mutants: K30A, W36F, and W36Y with different specificity to phosphoinositides. Mutant domain K30A recognized PI(4,5)P2 , PI(3,4,5)P3 , phosphatidic acid (PA), and weakly PI(3,5)P2 . Mutant domain W36F recognized all the phosphoinositides studied and the PA. Finally, mutant domain W36Y seemed to interact with PA and all the other phosphoinositides studied, except PI(3)P. The changes in recognition argue against a simple charge and nonpolar region model for these interactions and more in favor of a specific docking region with a specific recognition site. We conducted in silico modeling that explains the mechanisms behind the observed changes and showed that aromatic amino acids appear to play more important role, than previously thought, in the specificity of phospholipids' binding domains.
Subject(s)
Amino Acids, Aromatic/chemistry , Pleckstrin Homology Domains , Amino Acid Sequence , Animals , Models, Molecular , Mutagenesis, Site-Directed , Mutant Proteins/chemistry , Mutant Proteins/metabolism , Phosphatidylinositol Phosphates/metabolism , Phospholipase C delta/chemistry , RatsABSTRACT
CASO CLÍNICO: Paciente varón de 23 años sin antecedentes personales de interés que acude por traumatismo con rama de limonero en ojo derecho hacía dos días. En la biomicroscopia se observaba una erosión corneal central, un infiltrado estromal arboriforme blanquecino y un Tyndall +/++. El cultivo de raspado corneal fue positivo para Colletotrichum spp. El paciente respondió favorablemente a la anfotericina tópica. DISCUSIÓN: Colletotrichum spp. constituye una causa infrecuente de queratitis, secundaria generalmente a erosiones ocasionadas por productos de origen vegetal, y debe ser incluido en el diagnóstico diferencial de las queratitis fúngicas
CASE REPORT: A 23 years old male with an unremarkable past medical history suffered an injury with a branch of a lemon tree in the right eye two days prior to presentation. The slit-lamp examination showed a central corneal erosion with a white tree-shaped stromal infiltrate and Tyndall +/++ in anterior chamber. Cultivation of corneal scraping was positive for Colletotrichum spp. The patient responded favourably to topical amphotericin. DISCUSSION: Colletotrichum spp. is an uncommon cause of keratitis, usually secondary to corneal erosion caused by plant material and should be included in the differential diagnosis of fungal keratitis
Subject(s)
Humans , Male , Young Adult , Keratitis/diagnosis , Eye Infections, Fungal/diagnosis , Colletotrichum/isolation & purification , Eye Injuries, Penetrating/complications , Microscopy , Amphotericin B/therapeutic useABSTRACT
Seventeen striped dolphins (Stenella coeruleoalba) displaying swimming disorders compatible with neurological syndromes were investigated for Brucella infection. Sixteen dolphins had meningoencephalomyelitis. Serum antibody against Brucella antigen was detected in all 14 animals tested and Brucella ceti was isolated from eight out of nine animals. Brucella antigen was detected in the brain by immunofluorescence, but not by immunohistochemical labelling. By contrast, Brucella antigen was demonstrated by immunohistochemistry in the trophoblast of animals with severe placentitis and in the mitral valve of animals with myocarditis. The microscopical lesions observed in the tissues of the infected dolphins were similar to those of chronic brucellosis in man. The severity of brucellosis in S. coeruleoalba indicates that this dolphin species is highly susceptible to infection by B. ceti.
