Congenital stromal corneal dystrophy in a Spanish family: Clinical, genetic and histological analysis.

PURPOSE: To present the clinical, genetic, and histopathological features of the ninth family affected by congenital stromal corneal dystrophy (CSCD) to date. METHODS: Twelve cases of a Spanish family affected by CSCD were analyzed regarding history, visual acuity (VA, decimal scale), an ophthalmologic exam and specular microscopy. Five eyes were treated by deep anterior lamellar keratoplasty (DALK), and thirteen eyes by penetrating keratoplasty (PK). In the two last generations, a genetic study was performed. RESULTS: Most of the patients affected were born with opaque corneas except for three, whose corneas were clear at birth. Biomicroscopy showed a whitish diffuse stromal opacity with an unaltered epithelium, causing poor VA (from hand motions to 0.4). Patients treated with PK presented mean postoperative VA of 0.19±0.20 over a follow-up time of 235.3±101.4months with 38% recurrences. Patients who underwent DALK experienced VA improvement to 0.17±0.11 over a follow-up time of 10.8±2.6months without signs of recurrence. In the latter, the big bubble technique was not achieved, so a manual technique was performed. The genetic study showed heterozygosis for a 1-bp deletion at nucleotide 962 in exon 8 of the decorin gene. CONCLUSIONS: CSCD is a rare entity, which should be treated by DALK whenever possible, obtaining better results than PK. Close monitoring of children of affected individuals is important, because CSCD can progress during the early years of life.

Intercritical photophobia in the migrainous patient. Proposal for diagnostic criteria.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.

Optic neuropathy by ethambutol in a patient with multiple sclerosis.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Optic neuropathy by ethambutol in a patient with multiple sclerosis. / Neuropatía óptica por etambutol en paciente con esclerosis múltiple.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

Intercritical photophobia in the migraineous patient. Proposal for diagnostic criteria. / Fotofobia intercrítica en el paciente migrañoso. Propuesta de criterios diagnósticos.

INTRODUCTION: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. BASIC PROCEDURE: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. OBJECTIVE: The purpose of this article is to establish diagnostic criteria for photophobia. RESULTS: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. CONCLUSION: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.

Fotofobia intercrítica en el paciente migrañoso. Propuesta de criterios diagnósticos / Intercritical photophobia in the migraineous patient. Proposal for diagnostic criteria

Introducción: La fotofobia es un síntoma de intolerancia anómala a la luz sin sensación de dolor que requiere de una anamnesis y una exploración para el diagnóstico de una etiología subyacente.Procedimiento básico: El presente artículo se centra en 30 casos clínicos con fotofobia intensa aislada y su revisión de la bibliografía. Objetivo: El objetivo consiste en establecer unos criterios diagnósticos de la fotofobia. Resultados: La etiología de la fotofobia parece encontrarse a nivel de las células ganglionares de la retina intrínsecamente fotosensibles, conocidas como las células de la melanopsina, y a un nivel neuroquímico mediado por el péptido relacionado con la calcitonina y el péptido pituitario activador de la ciclasa. Conclusión: El tratamiento de la fotofobia podría consistir en anticuerpos monoclonales contra los péptidos relacionados con la calcitonina y/o el péptido pituitario activador de la ciclasa.(AU)

Introduction: Photophobia is a symptom of abnormal light intolerance without pain sensation that requires an anamnesis and an examination to diagnose an underlying etiology. Basic procedure: This article focuses on 30 clinical cases with isolated intense photophobia and on the review of the literature. Objective: The purpose of this article is to establish diagnostic criteria for photophobia. Results: The etiology of photophobia appears to be at the level of the intrinsically photosensitive retinal ganglion cells known as melanopsin cells and at a neurochemical level mediated by calcitonin-related peptide and the pituitary activating peptide cyclase. Conclusion: The treatment of photophobia could consist of monoclonal antibodies against calcitonin-related peptide and/or pituitary activating peptide cyclase.(AU)

Neuropatía óptica por etambutol en paciente con esclerosis múltiple / Optic neuropathy by ethambutol in a patient with multiple sclerosis

Presentamos el caso clínico de una paciente que desarrolló una neuropatía óptica tóxica por etambutol en el contexto de una reactivación tuberculosa y que, además, presentaba como antecedentes personales una esclerosis múltiple. El objetivo es destacar la importancia de realizar un buen diagnóstico diferencial de este efecto adverso y de conocer sus manifestaciones y características clínicas, campimétricas y tomográficas principales. Además, dado que la reversibilidad del daño sigue siendo discutida en la bibliografía, es esencial el diagnóstico precoz para lo que es importante informar al paciente de los posibles síntomas, así como llevar a cabo una exploración oftalmológica y test cromáticos antes de comenzar el tratamiento para valorar si hay progresión.

We present the clinical case of a patient who developed a toxic optic neuropathy due to ethambutol in the context of a tuberculosis reactivation and who also had a personal history of multiple sclerosis. The objective is to highlight the importance of making a good differential diagnosis of this adverse effect and of knowing its main clinical, campimetric and tomographic manifestations and characteristics. Furthermore, since the reversibility of damage is still discussed in the literature, early diagnosis is essential. For this purpose, it is important to inform the patient of the possible symptoms and to carry out an ophthalmological examination and colour tests before starting treatment to assess whether there is progression.

The effect of cyclic adenosine monophosphate on the mitogen-activated protein kinase pathway depends on both the cell type and the type of tyrosine kinase-receptor.

The mitogen-activated protein kinase (MAP kinase) is a key participant in growth factor-stimulated intracellular events such as proliferation and differentiation. We and others have previously described a cross-talk between the MAP kinase pathway and the cAMP pathway. Indeed, in several cell lines and, in particular in fibroblasts, an increase in the level of cAMP produced an inhibition of MAP kinase together with decreased cell proliferation. In contrast, in PC12 cells, cAMP induced an increase in the NGF-induced activation of MAP kinase concomitantly with augmented NGF-induced differentiation. Therefore, it has been proposed that the cellular context is important for the nature of the cAMP effects on growth factor-stimulated MAP kinase activity. Here we show that the type of tyrosine kinase receptor stimulated also participates in the nature of the cAMP effect. Thus, in NIH3T3 fibroblasts expressing NGF receptors (NIH3T3/trk cells) we found that cAMP potentiates NGF-stimulated ERK1 and MEK1 activities, whereas in NIH3T3 fibroblasts expressing insulin receptors (NIH3T3/IR cells) we saw no effect of cAMP on the activation of insulin-stimulated ERK1 and MEK1. In PC12 cells and in Rat1 fibroblasts expressing insulin receptors (PC12/IR and Rat1/IR cells) we observed, respectively, a potentiation and an inhibition of insulin-stimulated ERK1 activity. In addition, cAMP does not seem to modify the basal nor growth factor-stimulated She or IRS-1 tyrosine phosphorylation in the different cell lines studied. Finally, we observed that cAMP inhibited serum- and insulin-induced, but not NGF-induced, cell proliferation in NIH3T3 cells. However, cAMP potentiated insulin-stimulated cell differentiation in PC12/IR cells. These results led us to conclude that the cAMP effect on cell proliferation in NIH3T3 fibroblasts and PC12/IR cells appears to be correlated, in part, with the effect of cAMP on the MAP kinase pathway, but by itself this pathway cannot fully account for these observations.

Regulation of the MAP kinase cascade in PC12 cells: B-Raf activates MEK-1 (MAP kinase or ERK kinase) and is inhibited by cAMP.

In PC12 cells, cAMP stimulates the MAP kinase pathway by an unknown mechanism. Firstly, we examined the role of calcium ion mobilization and of protein kinase C in cAMP-stimulated MAP kinase activation. We show that cAMP stimulates p44mapk independently of these events. Secondly, we studied the role of B-Raf in this process. We observed that NGF, PMA and cAMP induce the phosphorylation of B-Raf as well as an upward shift in its electrophoretic mobility. We show that B-Raf is activated following NGF and PMA treatment of PC12 cells, and that it can phosphorylate and activate MEK-1. However, cAMP inhibits B-Raf autokinase activity as well as its ability to phosphorylate and activate MEK-1. This inhibition is likely to be due to a direct effect since we found that PKA phosphorylates B-Raf in vitro. Further, we show that B-Raf binds to p21ras, but more important, this binding to p21ras is virtually abolished with B-Raf from PC12 cells treated with CPT-cAMP. Hence, these data indicate that the PKA-mediated phosphorylation of B-Raf hampers its interaction with p21ras, which is responsible for the PKA-mediated decrease in B-Raf activity. Finally, our work suggests that in PC12 cells, cAMP stimulates MAP kinase through the activation of an unidentified MEK kinase and/or the inhibition of a MEK phosphatase.

Jules Germain Cloquet: del epónimo al anatomista del Romanticismo / Jules Germain Cloquet: From the eponymous to the anatomist of Romanticism

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Traumatismos deportivos en oftalmología. Un estudio descriptivo en un hospital terciario / Sports injuries in opthalmology. A descriptive study in a tertiary hospital / Lesões esportivas em oftalmologia. Estudo descritivo em hospital terciário

OBJETIVO: Determinar las características clínicas y epidemiológicas de los traumatismos deportivos oculares de la población asistencial de un hospital terciario de Madrid. MÉTODO: Recopilación retrospectiva de los datos clínicos de los pacientes que acudieron al servicio de urgencias del Hospital Clínico San Carlos en el periodo enero 2015-diciembre 2017 y que habían sufrido un traumatismo ocular durante la práctica de algún deporte. RESULTADOS: Se incluyeron en el estudio un total de 54 pacientes. 47 (87.04%) fueron hombres. La edad media fue de 27.26 años ± 13.01 años de desviación estándar. El deporte que causó más traumatismos entre los pacientes incluidos en el estudio fue el fútbol, seguido de deportes de raqueta, fuerza y combate y baloncesto. La iritis traumática fue el diagnóstico más frecuente, seguido de lesión periocular, lesiones de polo anterior, conmoción retiniana, lesiones regmatógenas, fractura orbitaria y desprendimiento de retina. El 87.04% de los cuadros se resolvieron con tratamiento médico. CONCLUSIONES: La mayoría de los traumatismos oculares deportivos son leves y se resuelven apenas con tratamiento médico. Se deben excluir diagnósticos más graves que requieran de un tratamiento más específico. Las campañas de prevención de daños deben ir encaminadas a los grupos con mayor riesgo de presentarlos

OBJECTIVE: The purpose of this article is to determine the clinical and epidemiologic characteristics of ocular sports injuries in a tertiary hospital of Madrid. METHOD: The study was based on a retrospective record of clinical data of patients who underwent clinical exploration after ocular sport injury between January 2015 and December 2017 in Clinic Hospital San Carlos. RESULTS: A total of 54 patients were recruited from which 47 (87.04%) were males. The mean age was 27.26 years ± 13.01 years Standard Deviation. The sport with the most frequent cause of ocular injury was soccer, followed by racket sports, fight sports and basketball. Traumatic iritis was the most frequent diagnosis, followed by periocular lesions, anterior segment lesions, conmotio retinae, rhegmatogenous lesions, orbital fracture and retinal detachment. Medical treatment solved 87.04% of the cases. CONCLUSIONS: Most of the sports related to ocular injuries were minor cases and they could be solved with only medical treatment. More severe diagnosis must be investigated for more specific treatments, thought. Prevention strategies must be focused in higher risk groups

OBJETIVO: O objetivo deste artigo é determinar as características clínicas e epidemiológicas das lesões oculares desportivas num hospital terciário de Madrid. MÉTODO: O estudo foi baseado num registo retrospectivo de dados clínicos de doentes que foram submetidos a exploração clínica depois duma lesão desportiva ocular entre Janeiro de 2015 e Dezembro de 2017 no Hospital Clínico San Carlos. RESULTADOS: Foram recrutados 54 doentes, dos quais 47 (87.04%) eram do sexo masculino. A idade média foi de 27.26 anos ± 13.01 anos de desvio padrão. O desporto que mais frequentemente causou lesões oculares foi o futebol, seguido dos desportos de raquete, luta desportiva e basquetebol. A irite traumática foi o diagnóstico mais frequente, seguida de lesões perioculares, lesões do segmento anterior, conmotio retinae, lesões regmatogénicas, fractura orbital e descolamento da retina. O tratamento médico resolveu 87.04% dos casos. CONCLUSÕES: A maioria dos desportos relacionados com lesões oculares foram casos menores e só puderam ser resolvidos com tratamento médico. É necessário investigar um diagnóstico mais rigoroso para tratamentos mais específicos. As estratégias de prevenção devem ser centradas nos grupos de maior risco

Del anatomista François Pourfour du Petit / The anatomist François Pourfour du Petit

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