[Dual-specificity Phosphatase 1 Suppresses Vascular Smooth Muscle Cell Calcification by Optical Atrophy 1-related Pathway].

Objective To investigate the effect of dual-specificity phosphatase 1/optical atrophy 1 (DUSP1/OPA1) signaling pathway on vascular smooth muscle cell (VSMC) calcification.Methods An in vitro model of VSMC calcification was induced by exposure to ß-glycerophosphate and calcium chloride.VSMC calcification was assessed by Alizarin Red S staining and calcium content by ELISA.Apoptosis was detected by TUNEL.Western blotting was employed to determine the protein levels of DUSP1,OPA1,Runt-related transcription factor 2 (Runx-2),bone morphogenetic protein 2 (BMP-2),and cysteinyl aspartate-specific proteinase-3 (Caspase-3).The effects of DUSP1 overexpression and OPA1 knockdown on cell calcification were investigated.Results Calcium chloride and ß-glycerolphosphate induced VSMC calcification and down-regulated the expression levels of DUSP1 (t=11.951,P<0.001) and OPA1 (t=8.487,P<0.001).DUSP1 overexpression promoted OPA1 expression (t=-8.921,P<0.001),attenuated VSMC calcification,reduced calcium content and apoptosis rate,and down-regulated the expression of Runx-2,BMP-2,and active Caspase-3 (all P<0.001).OPA1 knockdown increased calcium content and apoptosis rate,up-regulated the expression of Runx-2,BMP-2,and active Caspase-3,and promoted VSMC calcification (all P<0.001).Conclusion DUSP1 may inhibit the VSMC calcification through the OPA1 signaling pathway.

Tumor de hipófise em paciente com hidrocefalia: um desafio diagnóstico / Pituitary tumor in a patient with hydrocephalus: a diagnostic challenge

RESUMO A hidrocefalia é definida como a dilatação ventricular pelo aumento da pressão intraventricular e intracraniana quando não tratada ou por insucesso do tratamento. Muitas vezes, leva ao dano das vias ópticas, podendo causar atrofia óptica, devido à proximidade dessas vias com o ventrículo lateral quando ocorre a dilatação. Assim como a hidrocefalia pode levar à atrofia óptica, outras patologias também podem. Tumores hipofisários compartilham desse mesmo sinal, além de causar hemianospsia bitemporal quando o tumor comprime quiasma óptico. Ademais, a hemianopsia bitemporal é o distúrbio visual mais comum encontrado em pacientes com tumor de hipófise. Os tumores de hipófise, por exemplo, geram manifestações clínicas que podem estar relacionadas à disfunção da glândula ou aos efeitos mecânicos da expansão tumoral. Sinais e sintomas visuais estão mais ligados ao efeito mecânico do tumor. Assim, muitas vezes, o paciente procura o oftalmologista antes do endocrinologista. Neste caso, analisaremos uma paciente portadora de hidrocefalia que apresentava, concomitantemente, um tumor hipofisário, e a investigação oftalmológica fez toda a diferença no tratamento da paciente.

ABSTRACT Hydrocephalus is defined as ventricular dilation caused by increased intraventricular and intracranial pressure when untreated or due to treatment failure. Optical pathways can often cause optic atrophy due to the proximity to the lateral hazard when dilation occurs. Hydrocephalus can lead to optic atrophy, as well as other pathologies. Pituitary tumors share this same sign, in addition to causing bitemporal hemianopia when it compresses the optic chiasm. In addition, bitemporal hemianopia is the visual disturbance most commonly found in patients with pituitary tumors. Pituitary tumors, for example, have clinical manifestations that may be related to gland dysfunction, or to mechanisms of tumor expansion. Visual signs and symptoms are more linked to the mechanical effect of the tumor. Therefore, the patient usually seeks the ophthalmologist before the endocrinologist. In this case, we analyzed a patient with hydrocephalus who presented, at the same time, a pituitary tumor, and the ophthalmological investigation made all the difference in the treatment of the patient.

Clinical characteristics of infantile malignant osteopetrosis with eye disease / 中华实验眼科杂志

Background Malignant osteopetrosis is an extremely rare dense bone disease,and sometimes features ocular disease and cranial nerve palsy.This disease received high attention because of its poor prognosis.And whether the eye manifestation improved after treatment is a problem for concern.Objective This study was to clarify the clinical manifestation,treatment and prognosis of malignant osteopetrosis associated with ocular disease.Methods A retrospective study was adopted.Two children with malignant osteopetrosis associated with eye symptoms were collected from Beijing Children Hospital.The systemic and ocular medical examinations were performed on the patients,including physical examination,hematology laboratory examination,abdominal B ultrasound and bone X ray radiography,external ocular examination,flash visual evoked potential (F-VEP) and CT of orbit.Bone marrow hematopoietic stem cell transplantation was employed and 5-year following-up was cinducted on the chidren.Results The children showed increased bone density,systemic bone sclerosis,basilar thickening,abnormalities of hematology indexes,anemia,hepatosplenomegaly,optical canal stenosis and abnormality of F-VEP P2 wave.In addition,optical disc pale,facial paralysis and paralytic esotropia were seen in a female child and alternating strabismus was found in another boy.After successful treatment,the systemic symptoms remitted in both children,but the eye findings remained unchanged in the female child during the follow-up duration.However,the strabismus diminished in the male child.The optical bone canal widening to 1.9 mm 1 year and 3.2 mm 5 years after treatment in the female child.Conclusions Strabismus and eye disease are the signs of malignant infantile osteopetrosis and reflections of the impairment of the central nervous system.The pathogenetic mechanism of malignant osteopetrosisrelated eye disease is below understanding now.Early bone marrow hematopoietic stem cell transplantation for malignant osteopetrosis can offer the best chance of long-term survival and improve the prognosis of eye diseases.

Absceso subperióstico y síndrome del vértice orbitario: complicación posterior a la extracción del tercer molar mandibular / Subperiostial orbital abscess and apex syndrome as a complication after a mandibular molar extraction

Introducción: La diseminación de las infecciones que se extienden de dientes mandibulares y estructuras adyacentes hacia la órbita y tejido periorbitario son infrecuentes, pero graves ya que tienen el potencial de causar la pérdida de la visión. Objetivos: El propósito de este artículo es publicar un caso clínico muy interesante por lo infrecuente, y explicar a juicio de los autores las vías de diseminación de la infección, a su vez alertar a los diferentes especialistas involucrados sobre las severas consecuencias que pueden resultar tras la extracción de piezas dentales, como es la pérdida definitiva de la visión. Reporte del caso: Se trata de un paciente masculino de 43 años, sin antecedentes mórbidos relevantes, que fue enviado al Servicio Médico Legal para examen clínico forense con pérdida total de la visión del ojo derecho por atrofia óptica como complicación de un síndrome del vértice orbitario, luego de la exodoncia del tercer molar mandibular derecho. Conclusiones: Es fundamental el tratamiento oportuno y agresivo para detener la diseminación de una infección desde las estructuras adyacentes hacia la órbita. La comunicación efectiva interdisciplinaria entre los profesionales involucrados evita complicaciones de tipo médico-legales y secuelas definitivas al paciente.

Introduction: Infection dissemination from mandibular teeth to the orbit and adjacent structures is infrequent, but nevertheless serious, as they may cause severe problems, including vision loss. Aim: The purpose of this study is to present a rare and interesting case of such a dissemination, to discuss the possible routes of infection propagation, and to alert the different specialists involved on the possible complications after dental extractions, such as visual loss. Report of the case: The case of a 43-year-old previously healthy male is presented. The patient was sent to the Medical Legal Service for clinical forensic examination after total vision loss of the right eye, caused by optic atrophy as a complication of orbital apex syndrome, after the extraction of the third right mandibular molar. Conclusions: Opportune and aggressive treatment is crucial to stop infection spread from adjacent structures to the orbit. Effective communication among the professionals involved avoids medical - legal complications and precludes permanent sequels to the patient.

Atrofia óptica hereditaria autosómica dominante: A propósito de una familia / Dominant autosomal hereditary optical atrophy: Apropos of a family

Entre las causas de pérdida insidiosa, bilateral y simétrica de la visión central se deben tener siempre presente las atrofias ópticas heredo degenerativas. La atrofia óptica hereditaria autosómica dominante es la forma más frecuente de atrofia óptica heredofamiliar simple o monosintomática. Se realizó la caracterización clínica de una familia con el diagnóstico de esta discapacidad visual.

Among the causes of insidious, bilateral and symmetric loss of the central vision, the hereditary and degenerative optical atrophies should always be taken into account. The dominant autosomal hereditary optical atrophy is the most frequent form of simple or monosymptomatic hereditary family optical atrophy. The clinical characterization of a family with the diagnosis of this visual impairment was made.