[Desmoplastic round cell tumor]. / Tumor desmoplásico de células redondas.

Desmoplastic small round cell tumor is a rare and very aggressive neoplasm that belongs to the family of "small round blue cell tumors". It has a higher incidence in males in the second decade of life. It is due to translocation t(11;22) (p13;q12). It can be located both in the abdomen and in the retroperitoneum and is characterized by nonspecific symptoms. The treatment is very varied and the one that guarantees the total cure of the patient has not yet been detected. The objective of this study is to expose a clinical case of desmoplastic tumor as an rare abdominal disease and its imaging expression.

El tumor desmoplásico de células pequeñas y redondas es una neoplasia poco frecuente y muy agresiva que forma parte de la familia de los "tumores de células pequeñas, redondas y azules". Presenta una mayor incidencia en el sexo masculino en la segunda década de la vida. Se debe a la translocación t(11;22) (p13;q12). Se puede localizar tanto en el abdomen como en el retroperitoneo caracterizándose por presentar síntomas inespecíficos. El tratamiento es muy variado y no se ha detectado todavía aquel que garantice la cura total del paciente. El objetivo del presente estudio es exponer un caso clínico de tumor desmoplásico como enfermedad abdominal infrecuente y su expresión imagenológica.

Tumor desmoplásico de células redondas / Desmoplastic round cell tumor

Resumen El tumor desmoplásico de células pequeñas y redon das es una neoplasia poco frecuente y muy agresiva que forma parte de la familia de los "tumores de célu las pequeñas, redondas y azules". Presenta una mayor incidencia en el sexo masculino en la segunda década de la vida. Se debe a la translocación t(11;22) (p13;q12). Se puede localizar tanto en el abdomen como en el re troperitoneo caracterizándose por presentar síntomas inespecíficos. El tratamiento es muy variado y no se ha detectado todavía aquel que garantice la cura total del paciente. El objetivo del presente estudio es exponer un caso clínico de tumor desmoplásico como enfermedad abdo minal infrecuente y su expresión imagenológica.

Abstract Desmoplastic small round cell tumor is a rare and very aggressive neoplasm that belongs to the family of "small round blue cell tumors". It has a higher incidence in males in the second decade of life. It is due to trans location t(11;22) (p13;q12). It can be located both in the abdomen and in the retroperitoneum and is character ized by nonspecific symptoms. The treatment is very varied and the one that guarantees the total cure of the patient has not yet been detected. The objective of this study is to expose a clinical case of desmoplastic tumor as an rare abdominal disease and its imaging expression.

Contralateral Autokeratoplasty, Pars Plana Vitrectomy for Luxated Cataract, and Flanged Intrascleral Intraocular Lens Fixation.

Purpose: To describe a case of a combined procedure including autokeratoplasty, pars plana vitrectomy (PPV), and scleral intraocular lens (IOL) fixation. Methods: Case report. Results: We describe a case of an 85-year-old patient presenting a right, blind eye with a clear cornea and a left eye with acceptable visual potential but affected by bullous keratopathy, aphakia, and a posteriorly dislocated nucleus. The patient underwent a contralateral autokeratoplasty, PPV, and flanged intrascleral IOL fixation with double needle technique. After 24 months of follow-up, the graft remained clear, and the IOL was stable. Conclusions: Complex cases comprising anterior and posterior segments pathology sometimes require combined procedures. A shortage of corneal tissue in developing countries is common. In strictly selected cases, autokeratoplasty may be an option and is associated with fewer complications than allograft corneal transplantation. Sutureless novel techniques for intrascleral fixation of IOL have shown good results and reliable lens stability.

Posterior Amorphous Corneal Dystrophy: New Chromosomal Breakpoints in the Small Leucine-Rich Proteoglycan-Coding Region.

PURPOSE: The purpose of this study was to report the clinical features and describe the results obtained by multimodal corneal imaging of a patient with novel chromosomal breakpoints of the 12q21.33 locus. METHODS: This study was a case report and literature review. RESULTS: A 12-year-old girl presented with visual loss whose examination revealed a best-corrected visual acuity of 20/50 in her right eye and 20/35 in her left eye and corneal flattening and gray sheet-like opacities deep in the stroma. Anterior segment optical coherence tomography and ultrabiomicroscopy showed an evenly distributed hyperreflective line in the posterior stroma. Confocal microscopy revealed enlarged keratocytes and the presence of small reflective deposits from the pre-Descemet line to the endothelium. In addition, a 447-kb deletion that included the small leucine-rich proteoglycan-coding region in locus 12q21.33 was found. She was, therefore, diagnosed with PACD. CONCLUSIONS: PACD is a rare genetic disorder of the cornea characterized by gray sheet-like opacification of the posterior stroma in combination with corneal flattening. Confocal microscopy provides histologic segmentation of each corneal layer and shows the degree to which they are affected. New chromosomal breakpoints of a deletion in the small leucine-rich proteoglycan-coding region are hereby reported. PACD may be a contiguous gene syndrome, and further tests are required to identify the exact position responsible for the phenotypic variation.

Association Between Skin Findings and Ocular Signs in Rosacea.

OBJECTIVES: To report the most frequent signs in ocular rosacea and evaluate their association with skin findings. MATERIALS AND METHODS: Fifty-one patients diagnosed with rosacea by a trained dermatologist were evaluated by an ocular surface specialist. A complete ophthalmological examination was performed. RESULTS: In our study, the prevalence of ocular signs in patients with rosacea was 74.5%. The average age at presentation was 50 years and women were more affected than men. The most common findings were lid margin erythema, meibomian gland dysfunction, and blepharitis. Fifteen patients had decreased visual acuity due to complications related to rosacea such as leukoma and corneal neovascularization. Interestingly, patients that had the lowest visual acuity presented with dermatological signs of papules and pustules (p=0.001) and rhinophyma (p=0.023). Two patients who showed subepithelial fibrosis and fornix foreshortening were diagnosed as having ocular cicatricial pemphigoid (OCP) by immunohistopathological analysis of conjunctival specimens. CONCLUSION: Ocular compromise is common in rosacea. Our study shows that there might be a relationship between the severity of ocular involvement and certain subtypes of cutaneous disease. Rosacea and OCP may coexist. In cases that present with conjunctival fibrotic changes, a diagnostic biopsy is mandatory.

Bloqueo nervioso corticoideo-bupivacaína: ¿La mejoría post-procedimiento inmediato predice el éxito terapéutico a mediano plazo? / Corticoid-bupivacaine Nerve Block: Does the Immediate Relief Postprocediment Predicts Medium-term Therapeutic Success?

Resumen Objetivo. Establecer la relación entre la reducción inmediata de los síntomas post bloqueo nervioso lumbar guiado por tomografía computada (TC) y la mejoría tras un lapso de tiempo de un mes. Materiales y métodos. Se analizaron datos sobre 46 procedimientos de bloqueos lumbares radiculares y epidurales guiados por TC realizados entre diciembre de 2018 y marzo de 2019. Los pacientes firmaron consentimiento informado y el Comité de Ética en Investigación de nuestra institución aprobó el estudio. Se colectó, mediante un cuestionario dicotómico, información acerca de los síntomas iniciales, los cambios inmediatos al procedimiento y los síntomas tras un mes del mismo. Resultados. Inmediatamente post-bloqueo, 30 pacientes (65%) mostraron mejoría o ausencia de síntomas y seis de ellos manifestaron persistencia de los síntomas al mes. Post-procedimiento inmediato, 16 pacientes (34%) no presentaron ningún cambio en la sintomatología. De estos, siete presentaron mejoría al mes. La razón de momios para la persistencia del efecto analgésico al mes en los casos en los que el paciente manifestó alivio inmediato después del procedimiento fue de 5,1 (95% IC 1.128 a 24.031). La prueba de McNemar para determinar si esta diferencia en la proporción de pacientes con alivio inmediatoposterioralapunciónypersistenciadelefectoanalgésicoarrojóunpvaluede0,08. Conclusión. Existió asociación positiva entre la mejoría inmediata y la ausencia de síntomas al mes. Sin embargo, el análisis estadístico de antes y después insinúa que estos resultados pudieron ser por el azar.

Abstract Objective. To establish the relationship between the immediate symptom reduction of post-lumbar nerve block guided by Computed Tomography (CT) and the improvement after a period of one month. Materials and methods. Data from 46 patients who performed lumbar, foraminal and epidural CT-guided blocks were analyzed, performed from December 2018 to March 2019. The patients signed a written informed consent and our institutional Ethical Committee approved the study. By means of a dichotomous questionnaire, information was collected about the initial symptoms, the immediate changes after the procedure and the presence of symptoms one month later. Results. Immediately after blockade, 30 patients (65%) showed improvement or absence of symptoms six of them manifested persistence of symptoms after a month. Immediately after the procedure, 16 (34%) patients did not present any change in the symptomatology. Seven of them showed improvement after a month. Odds ratio for persistence of analgesic effect after a month when the patient had manifested immediate relief after procedure was 5.1 (95% IC 1.128-24.031). Nevertheless, exact Mc Nemar's test to establish statistically significant difference in patients with immediate relief and those with persistence of it after a month showed a p value of 0.08. Conclusion. There was a positive association between immediate and midterm symptom relief, however before and after statistical analysis hints that this results may have been given by chance.

Scleral Compromise in Hereditary Porphyria Cutanea Tarda.

PURPOSE: To report a case of bilateral scleral compromise in a male patient with hereditary porphyria cutanea tarda (PCT). METHODS: Case report. RESULTS: A 57-year-old male was referred to the Cornea Service at Hospital de Clinicas in Buenos Aires for bilateral scleral thinning. He claimed ocular discomfort and photophobia. Slit-lamp biomicroscopy revealed an oval area of deep scleral thinning without uveal prolapse, adjacent to a conjunctival hyperemic zone in the interpalpebral area, 2 mm temporal to the limbus in the right eye. The left eye presented with a conjunctivalized scleral thinning in the interpalpebral area, 2 mm temporal to the limbus. Physical examination revealed facial hyperpigmentation and hypertrichosis and multiple hypopigmented scars in hands and nails. His family history was positive for PCT. The diagnosis was made by urine porphyrin test and genetic molecular testing. In an attempt to reduce ocular and systemic levels of porphyrins, the patient was treated with oral hydroxychloroquine and repeated phlebotomies, altogether with specially designed glasses to avoid local exposure to sunlight. CONCLUSIONS: Scleral involvement is a rare manifestation of PCT. An adequate treatment, including interdisciplinary management may ameliorate ocular signs and symptoms.

Polluted Air Exposure Compromises Corneal Immunity and Exacerbates Inflammation in Acute Herpes Simplex Keratitis.

Air pollution is a serious environmental issue worldwide in developing countries' megacities, affecting the population's health, including the ocular surface, by predisposing or exacerbating other ocular diseases. Herpes simplex keratitis (HSK) is caused by the herpes simplex virus type 1 (HSV-1). The primary or recurring infection in the ocular site causes progressive corneal scarring that may result in visual impairment. The present study was designed to study the immunopathological changes of acute HSK under urban polluted air, using the acute HSK model combined with an experimental urban polluted air exposure from Buenos Aires City. We evaluated the corneal clinical outcomes, viral DNA and pro-inflammatory cytokines by RT-PCR and ELISA assays, respectively. Then, we determined the innate and adaptive immune responses in both cornea and local lymph nodes after HSV-1 corneal by immunofluorescence staining and flow cytometry. Our results showed that mice exposed to polluted air develop a severe form of HSK with increased corneal opacity, neovascularization, HSV-1 DNA and production of TNF-α, IL-1ß, IFN-γ, and CCL2. A high number of corneal resident immune cells, including activated dendritic cells, was observed in mice exposed to polluted air; with a further significant influx of bone marrow-derived cells including GR1+ cells (neutrophils and inflammatory monocytes), CD11c+ cells (dendritic cells), and CD3+ (T cells) during acute corneal HSK. Moreover, mice exposed to polluted air showed a predominant Th1 type T cell response over Tregs in local lymph nodes during acute HSK with decreased corneal Tregs. These findings provide strong evidence that urban polluted air might trigger a local imbalance of innate and adaptive immune responses that exacerbate HSK severity. Taking this study into account, urban air pollution should be considered a key factor in developing ocular inflammatory diseases.

Ectodermal Dysplasia: Association with Anti-Basement Membrane Autoantibodies.

Ectodermal dysplasia (ED) is a group of several genetic conditions with absence or dysgenesis of at least two ectodermal derivatives: teeth, skin and its appendages including hair, nails, eccrine and sebaceous glands. The most important clinical findings in patients with ED are hypodontia, hypotrichosis, and hypohidrosis, which can lead to episodes of hyperthermia. Few reports have focused on the progressive keratopathy in ED. Cicatrizing conjunctivitis associated with anti-basement membrane autoantibodies has been described. We report a series of three ectodermal dysplasia patients with an ocular phenotype typically seen in ocular mucous membrane pemphigoid; conjunctival immunohistopathology revealed anti-basement membrane autoantibodies in all of them, and systemic immunosuppression proved to be effective in improving symptoms and helping to stabilize ocular surface disease.

The First Argentinian Family with Familial Amyloidosis of the Finnish Type.

Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.

Hot Topics in Dry Eye Disease.

BACKGROUND: Dry eye disease (DED) is a multifactorial disease of the tears and ocular surface that results in symptoms such as discomfort, visual disturbance, and tear film instability, with potential damage to the ocular surface. The principal pathological mechanisms of DED are hyperosmolarity and inflammation. These mechanisms are deeply interrelated and lead to a self-perpetuating "vicious circle". METHODS: The objective of this review is to describe novel pharmacological and non-pharmacological treatments for DED. RESULTS: Based on the better understanding of the physiopathology of the disease, new treatment strategies have been developed. CONCLUSION: The focus of the management of DED has been taken away from just reducing symptoms and redirected towards specific targets of its physiopathology, being inflammation the most addressed topic.

Effects of PUFAs in a Mouse Model of HSV-1 Chorioretinitis.

PURPOSE: To examine the effects of n-3 and n-6 polyunsaturated fatty acids (n-3 and n-6 PUFAs) in a murine model of herpetic chorioretinitis. METHODS: BALB/c mice were fed on three high fat diets, which contained: Menhaden oil (rich in n-3 PUFAs); Safflower oil (rich in n-6 PUFAs); or Corn oil (rich in saturated fatty acids) as control group, 14 days previously and until 12 days following anterior chamber (AC) HSV-1 inoculation. RESULTS: Mice fed on Menhaden oil present an early development of contralateral chorioretinitis by day 6 post-AC HSV-1 inoculation and also significant increase of RNA HSV-1 expression compared with Safflower and Corn oil groups. Furthermore, mice fed on Menhaden oil showed a significant decrease secretion of TNF-α, IFN-γ, IL-2 and IL-10 in splenic cells and both retinas. CONCLUSION: Our results showed that mice fed on Menhaden oil (n-3 PUFAs) presented an early development of contralateral chorioretinitis by day 6 post-AC HSV-1 inoculation and also a significant increase in RNA HSV-1 expression compared with animals fed on Safflower and Corn oils. This increase of HSV-1 could be associated with the higher development of chorioretinitis.

Tuberculous Subretinal Abscess in a Non-HIV Patient with Miliary Tuberculosis.

This case report describes the features of a tuberculous subretinal abscess in a non-HIV patient. It includes the characterization of the lesion with spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence examination. SD-OCT and autofluorescence imaging showed external retinal involvement during development of the tuberculous subretinal abscess. Patients with tuberculous lesions need a multidisciplinary approach, since the disease may involve any part of the body. In this case in particular, incidental findings at computed tomography scan led to the detection of this rare ocular manifestation of tuberculous disease.

Atypical Bilateral Fuchs Uveitis: Diagnostic Challenges.

UNLABELLED: Bilateral Fuchs uveitis associated with vitreous infiltration and posterior segment involvement requires a thorough diagnostic evaluation. The lack of well-defined diagnostic criteria makes identification of this entity difficult. The aim of this case report was to present the characteristics of a patient with atypical Fuchs uveitis and the procedures needed to rule out the differential diagnosis with specific attention to the utility of in vivo confocal microscopy (IVCM). CASE REPORT: One case of chronic bilateral uveitis with severe vitreous opacities is presented. After extensive systemic workup, including vitrectomy, the case had no identifiable systemic etiology. IVCM of the cornea revealed the presence of dendritiform keratic precipitates. CONCLUSION: The diagnosis of Fuchs uveitis is based on clinical findings as no confirmatory laboratory tests are available. A high index of suspicion is key to an early diagnosis, especially in the cases with vitreous opacities and posterior segment manifestations. Auxiliary tests such as IVCM may aid the clinician in the diagnosis of Fuchs uveitis.

Treatment of Acanthamoeba keratitis by corneal cross-linking.

PURPOSE: To evaluate the efficacy of corneal cross-linking (CXL; riboflavin/ultraviolet A) as a simple therapy for Acanthamoeba keratitis. METHODS: Twenty rabbits were systemically anesthetized and the stroma of their right corneas was inoculated with a suspension of Acanthamoeba. Rabbits were divided into 2 groups: one group was treated with corneal CXL 3 days after infection and the other did not receive any treatment (control). All eyes in both groups were examined before (days 0 and 3) and after (day 7) CXL treatment. On day 7, the eyes were enucleated; 18 corneal buttons (9 of each group) were sent for microbiological examination and 2 (1 of each group) for histopathologic examination. RESULTS: All animals developed Acanthamoeba keratitis. There was no statistically significant difference between groups before treatment (day 0, P = 1, and day 3, P = 0.684). The treated corneas had a higher score (3.48 ± 0.30) at the time of enucleation compared with control corneas (2.60 ± 0.26). This difference was statistically significant (P = 0.008). Microbiological analysis revealed that the treated corneas had a higher protozoal count (2.86 ± 0.09) compared with the control corneas (2.18 ± 0.07); this difference was statistically significant (P = 0.001). CONCLUSIONS: Treatment of Acanthamoeba keratitis by corneal CXL (riboflavin/ultraviolet A) did not prove effective in decreasing the intensity and severity of Acanthamoeba keratitis.