Episcleritis and periorbital edema secondary to VEXAS syndrome.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly described autoinflammatory entity caused by a UBA-1 gene mutation. Among the most frequent symptoms it produces fever, cytopenias, polychondritis, pulmonary infiltrates and up to 40% ocular involvement such as periorbital edema, uveitis, episcleritis, scleritis and retinal vasculitis. Patients respond to high doses of corticosteroids, however, many end up being refractory to them and to the classic immunosuppressants. We described the case of a 77-year-old male patient with ocular involvement in the form of episcleritis and periorbital edema who was later diagnosed with VEXAS Syndrome. The patient, after failing treatment with immunosuppressants, is currently receiving treatment with oral steroids and tocilizumab. Ophthalmologist must be aware of the ophthalmological affectation of autoinflammatory diseases and especially of this new entity described as the VEXAS Syndrome.

Results of the screening program for Fabry disease in patients with cornea verticillata at the University Hospital of Navarre.

INTRODUCTION: Cornea verticillata (CV) or vortex keratopathy is characterized by the presence of spiral-shaped deposits in the corneal epithelium. The most frequent causes are antimalarial drugs and amiodarone and, among systemic causes, Fabry disease (FD). MATERIAL AND METHODS: A multidisciplinary, prospective, descriptive study was conducted in a tertiary reference center in Spain's Autonomous Community of Navarre after the implementation of a FD screening program for patients attended to in the Ophthalmology Department. The study analyzed those diagnosed with CV, who were subsequently referred to the rare disease clinic of the University Hospital of Navarre's Internal Medicine Department for an FD study. RESULTS: Two women and four men with a mean age of 76.8 years were diagnosed with CV out of a total of 17,280 patients evaluated in outpatient consultations by three ophthalmology specialists during the period from April 2018 to April 2020. One patient died before performing the screening study and no patients were diagnosed with FD. CONCLUSIONS: Despite the fact that the University Hospital of Navarre's FD screening program for patients with CV did not confirm any cases of FD, ophthalmology specialists should consider the possible diagnosis of FD in patients with CV in their routine consultations.

[Impact of novel coronavirus infection in patients with uveitis associated with an autoimmune disease: result of the COVID-19-GEAS patient survey]. / Impacto de la infección por el nuevo coronavirus en los pacientes con uveítis asociada a una enfermedad autoinmune: resultado de la encuesta COVID-19-GEAS pacientes.

INTRODUCTION: The objetive of these study is to know the characteristics of COVID-19 in patients with uveitis associated with Systemic Autoimmune Disease (SAD) through telematic survey. MATERIAL AND METHODS: Internal Medicine Society and Group of Systemic Autoimmune disease conducted a telematic survey of patients with SAD to learn about the characteristics of COVID-19 in this population. RESULTS: A total of 2,789 patients answered the survey, of which 28 had a diagnosis of uveitis associated with SAE. The majority (82%) were female and caucasian (82%), with a mean age of 48 years. The most frequent SAEs were Behçet's disease followed by sarcoidosis and systemic lupus erythematosus. 46% of the patients were receiving corticosteroid treatment at a mean prednisone dose of 11 mg/day. Regarding infection, 14 (50%) patients reported symptoms compatible with SARS-CoV-2 infection. RT-PCR was performed on the nasopharyngeal smear in two patients and in one of them (4%) it was positive. CONCLUSIONS: Both asymptomatic and symptomatic COVID-19 patients with ASD-associated UNI had received similar immunosuppressive treatment.

Impact of novel coronavirus infection in patients with uveitis associated with an autoimmune disease: Result of the COVID-19-GEAS patient survey.

INTRODUCTION: The objective of these study is to know the characteristics of COVID-19 in patients with uveitis associated with Systemic Autoimmune Disease (SAD) through telematic survey. MATERIAL AND METHODS: Internal Medicine Society and Group of Systemic Autoimmune disease conducted a telematic survey of patients with SAD to learn about the characteristics of COVID-19 in this population. RESULTS: A total of 2,789 patients answered the survey, of which 28 had a diagnosis of uveitis associated with SAE. The majority (82%) were female and caucasian (82%), with a mean age of 48 years. The most frequent SAEs were Behçet's disease followed by sarcoidosis and systemic lupus erythematosus. 46% of the patients were receiving corticosteroid treatment at a mean prednisone dose of 11 mg/day. Regarding infection, 14 (50%) patients reported symptoms compatible with SARS-CoV-2 infection. RT-PCR was performed on the nasopharyngeal smear in two patients and in one of them (4%) it was positive. CONCLUSIONS: Both asymptomatic and symptomatic COVID-19 patients with ASD-associated UNI had received similar immunosuppressive treatment.

Multidisciplinary care and units for uveitis in the internal medicine departments in Spain: Survey of the Systemic Autoimmune Diseases Group.

OBJECTIVE: To identify the multidisciplinary uveitis units in which internal medicine departments participate in collaboration with ophthalmology departments in Spain. MATERIAL AND METHODS: We conducted a multicentre, observational cross-sectional study that collected information using a structured survey sent by email to 1015 partners of the Systemic Autoimmune Diseases Workgroup of the Spanish Society of Internal Medicine (GEAS-SEMI) from the 1st to the 31st of March 2017. RESULTS: We identified a total of 21 support units/consultations for the ophthalmology departments. Seventeen (81%) of the units were specific internal medicine-ophthalmology consultations, and 5 (24%) units had been created in the past 5 years. A median of 460 patients were assessed per unit by the end of the year. CONCLUSIONS: This study shows, for the first time in Spain, the important and close collaboration between ophthalmologists and internists, especially in highly specialized national reference institutions.

Multidisciplinary care and units for uveitis in the internal medicine departments in Spain: Survey of the Systemic Autoimmune Diseases Group. / Unidades y asistencia multidisciplinar de uveítis en los servicios de medicina interna en España: encuesta del Grupo de Enfermedades Autoinmunes Sistémicas.

OBJECTIVE: To identify the multidisciplinary uveitis units in which internal medicine departments participate in collaboration with ophthalmology departments in Spain. MATERIAL AND METHODS: We conducted a multicentre, observational cross-sectional study that collected information using a structured survey sent by email to 1015 partners of the Systemic Autoimmune Diseases Workgroup of the Spanish Society of Internal Medicine (GEAS-SEMI) from the 1st to the 31st of March 2017. RESULTS: We identified a total of 21 support units/consultations for the ophthalmology departments. Seventeen (81%) of the units were specific internal medicine-ophthalmology consultations, and 5 (24%) units had been created in the past 5 years. A median of 460 patients were assessed per unit by the end of the year. CONCLUSIONS: This study shows, for the first time in Spain, the important and close collaboration between ophthalmologists and internists, especially in highly specialised national reference institutions.

Complications and visual acuity of patients with uveitis: Epidemiological study in a reference unit in northern Spain. / Complicaciones y agudeza visual en los pacientes con uveítis en una unidad multidisciplinar de referencia del norte de España.

OBJECTIVE: To describe uveitis complications and visual acuity in a cohort of 500 patients in a multidisciplinary unit in northern Spain. MATERIAL AND METHODS: Retrospective-prospective study of complications and visual acuity of 500 adult patients evaluated in the Multidisciplinary Unit of the Navarra Hospital Complex from the period January 2010 until March 2015. An analysis was made of the complications, visual acuity and visual loss, with a follow-up of one-year. A comparative study was also made of the complications with 2 previous series published in Madrid and Holland. RESULTS: Moderate-severe visual loss was 13.5% in the right eye, and 13% in the left eye. Visual loss was associated with an age of 65 years or above. Complications were observed in 35% of patients, and cataract was the most frequent complication (10%), followed by synechiae (8%), and macular oedema (5%). Compared with the 2 other series, the present cohort showed a higher proportion of cataracts. CONCLUSIONS: Visual loss was associated with older age and cataract was the most common complication in our study.

Bilateral acute iris transillumination syndrome. A case report. / Síndrome de la transiluminación iridiana aguda bilateral. A propósito de un caso clínico.

OBJECTIVE: To present a case report of a patient with a bilateral acute iris transillumination syndrome (BAIT). METHODS: BAIT syndrome is a new clinical condition characterised by severe transillumination of the iris, acute onset of pigment dispersion in the anterior chamber, and a medial mydriatic pupil that is unresponsive or poorly responsive to light, due to a sphincter paralysis. Patients with BAIT generally present with acute ocular pain, photophobia, and red eyes. DISCUSSION: The case is presented of a 53 year-old woman, who, after being treated with moxifloxacin for an upper respiratory tract infection, developed a BAIT syndrome, which was initially diagnosed as acute anterior uveitis. CONCLUSION: As far as is known this is the first case reported in Navarra, but more case reports are needed to establish clear patterns about this condition.

Profile of patients with uveitis referred to a multidisciplinary unit in northern Spain. / Caracterización de los pacientes con uveítis remitidos a una unidad multidisciplinar de referencia en el norte de España.

OBJECTIVE: To describe the main characteristics of a cohort of patients with uveitis referred to a multidisciplinary unit in northern Spain. MATERIAL AND METHODS: Retrospective analysis of clinical records of patients evaluated in the Multidisciplinary Unit of the Navarra Hospital Complex from the period January 2010 until March 2015. An analysis was performed on the demographic characteristics, origin, types of uveitis, laterality, and aetiology. The present series was also compared with 2 previous series from Castilla y León and Barcelona. RESULTS: A total of 500 patients were identified, with a mean age of 47.9±16.4 years, with 50% women. The most frequent type of uveitis was anterior uveitis (65.4%), followed by posterior uveitis (17.6%), panuveitis (15.2%), and intermediate uveitis (1.8%). The origin was unclassifiable in 31.2%, followed by non-infectious systemic disease in 29.2%. Ankylosing spondylitis was the most frequent cause in 10.8% of patients, followed by herpes infection in 9.2%, and toxoplasmosis in 7.8%, respectively. Compared with the 2other cohorts, the present cohort showed a higher proportion of unilateral anterior uveitis. Furthermore, the patients from the Navarra series had a higher prevalence of unilateral and idiopathic uveitis compared to the series from Barcelona. CONCLUSIONS: The main characteristics of the present cohort of patients with uveitis are similar to those of patients from other regions of our country. Unilateral anterior uveitis and idiopathic uveitis were the most frequent in our series.

[Extrapulmonary tuberculosis]. / Tuberculosis extrapulmonar.

In spite of the lung being the target organ par excellence of tuberculosis, any other organ and system can be affected. In this article we review the forms of extrapulmonary tuberculosis, with the exception of the pleural form that requires the use of good diagnostic skills. From the dreaded tuberculous meningitis, by way of the insidious affectation of the spondylodiscitis, the so-called ganglionary affectation , the genitourinary affectation, pericarditis, and ending with less frequent forms such as ocular and cutaneous tuberculosis. In each section we will indicate what is most characteristic with the aim of providing a diagnostic and therapeutic orientation.

[Silicosis]. / Silicosis.

Silicosis, which acquired great significance during the period of increase in mining and construction, continues to be a pathology with a high morbidity and mortality within pneumoconiosis. Exposure to silica produces pathological, clinical and radiological alterations that together with compatible personal antecedents suggests its diagnosis in a simple way. The associated complications as well as its differential diagnosis from other types of pneumopathy mean that a review of this entity is needed.

[Hypersensitivity Pneumonitis (extrinsic allergic alveolitis)]. / Neumonitis por hipersensibilidad (alveolitis alérgica extrínseca).

Farmer's lung was first described in 1932. We can define hypersensitivity pneumonitis as a pulmonary and systemic disease that is accompanied by dyspnoea and coughing; it is caused by an immunological type of inflammation of the alveolar walls and the terminal airways and it is secondary to the repeated inhalation of a variety of antigens by a susceptible host. It can be said that it is an underdiagnosed disease and only a high degree of clinical manifestations and a detailed history of exposure can lead to an early diagnosis and satisfactory treatment. A combination among clinical-radiological, functional, cytological or pathological findings leads in some cases to a diagnosis. Treatment is based on avoiding further exposure to the causal agent and in the more serious cases the administration of systemic corticoid treatment.

[Leiomyosarcoma of the spermatic cord]. / Leiomiosarcoma de cordón espermático.

Presentation of an uncommon paratesticular tumour, located in the spermatic cord and originated in the smooth muscle of the cremaster, deferent, or the cord's vascular structures. In 1966, KYLE in Canada reviewed 22 cases of paratesticular leiomyosarcoma from the English literature, and in 1984 PUTS in the Netherlands extended this catalogue to 39. TAKAHA in 1991 presented 18 cases found in the Japanese literature. The theory of malignant degeneration from a previously existing leiomyomatous tumour is generally accepted. This entity is clinically associated with a clear tendency to local relapse, which does not imply a worse prognosis, and with a high percentage of blood metastasis three years after exeresis. The choice therapy is oncologic inguinal orchiectomy. Radiotherapy and chemotherapy, as coadjuvant therapies, appeared to be more effective in children's than in adult's sarcoma. Prognosis of these neoplasias in the reviewed literature is highly variable, ranging between 10% and 62% survival at 5 years, possibly due to the diversity of therapies and the patient's stage at the time of diagnosis.

[Left supraclavicular adenopathy. Metastasis of carcinoma of the prostate]. / Adenopatía supraclavicular izquierda. Metástasis por carcinoma de próstata.

Herein we describe two cases of prostatic carcinoma whose presenting feature was a left supraclavicular lymphadenopathy. The patients had presented no urinary symptomatology and the rectal examination of the prostate had disclosed minimal changes. A review of the literature has shown that the survival and treatment should be approached with the same protocols used in patient that initially present with bony or visceral metastasis. The finding of a supraclavicular lymphadenopathy should always prompt us to suspect the possibility of prostatic cancer.

[Bladder schistosomiasis: presentation of a new case]. / Esquistosomiasis vesical: presentación de un nuevo caso.

We report a case of urinary schistosomiasis involving only the bladder and mimicking a transitional cell pseudotumor. We describe the clinical and pathological features and discuss the diagnosis, medical and surgical treatment of this disease entity whose incidence is slowly increasing in black immigrants of the Maresme area of Barcelona.

[Colpo-urethral suspension for stress incontinence]. / La colpouretrosuspensión en la incontinencia de esfuerzo.

The paper explains the results obtained in 90 female patients with stress urine incontinence (90% in grade II at medium stress) who have undergone surgery through the vagina to free the urethra, cervix vesicae and bladder, raising them with a silk transversal suture anchored to the pubourethral ligament residues as well as anal and pubococcygeal ligaments. All the operations were performed by the author, achieving good results in 88.8% of the cases and with a post-operational follow-up ranging from 5 months to 13 years. These results can be overlapped with those obtained through optional routes, either abdominal and combined.

Secondary hydronephrosis to polyarteritis nodosa.

A case of secondary hydronephrosis to lesions from polyarteritis nodosa localized in a short segment of the mid-portion of the ureter together with sclerolipomatosis, periureteritis and functional stenosis is presented. Polyarteritis nodosa is a necrotizing vasculitis affecting small and middle-sized arteries of all organs but more particularly the kidney, heart, gastrointestinal tract, testicles, liver and the striad muscles. Localization in the fatty tissue surrounding the ureter with a periureteritis is not frequent, only 1 case has been published in the literature (1).