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.

Colangitis crónicas: diagnóstico diferencial y papel de la resonancia magnética / Chronic cholangitides: differential diagnosis and role of MRI

Las colangitis crónicas idiopáticas son un grupo de enfermedades hepatobiliares, de probable origen autoinmune, que suelen ser asintomáticas en sus estadios iniciales y pueden evolucionar hacia cirrosis hepática. La sospecha se establece al encontrar elevación de las enzimas de colestasis en analíticas de sangre. Entre las colangitis idiopáticas, la más frecuente es la colangitis esclerosante primaria, asociada a la enfermedad inflamatoria intestinal y que conlleva una incidencia aumentada de neoplasias hepatobiliares y del tubo digestivo. Es importante establecer el diagnóstico diferencial con la colangitis asociada a IgG4, la colangitis biliar primaria y colangitis secundarias, puesto que el manejo terapéutico es diferente. La colangiopancreatografía por resonancia magnética (CPRM) es la mejor prueba para la valoración de la vía biliar intrahepática y extrahepática, y el estudio de RM proporciona información sobre el hígado y el resto de los órganos abdominales. Un adecuado protocolo de CPRM y el conocimiento de los distintos hallazgos colangiográficos característicos de cada entidad son esenciales para alcanzar un diagnóstico correcto

The idiopathic chronic cholangitides comprise a group of hepatobiliary diseases of probable autoimmune origin that are usually asymptomatic in the initial stages and can lead to cirrhosis of the liver. Elevated cholestatic enzymes on blood tests raise suspicion of these entities. Among the idiopathic cholangitides, the most common is primary sclerosing cholangitis, which is associated with inflammatory bowel disease and with an increased incidence of hepatobiliary and digestive tract tumors. It is important to establish the differential diagnosis with IgG4-associated cholangitis, primary biliary cholangitis, and secondary cholangitides, because the therapeutic management is different. Magnetic resonance cholangiopancreatography (MRCP) is the best test to evaluate the intrahepatic and extrahepatic biliary tract, and MRI also provides information about the liver and other abdominal organs. An appropriate MRCP protocol and knowledge of the different findings that are characteristic of each entity are essential to reach the correct diagnosis

Chronic cholangitides: Differential diagnosis and role of MRI. / Colangitis crónicas: diagnóstico diferencial y papel de la resonancia magnética.

The idiopathic chronic cholangitides comprise a group of hepatobiliary diseases of probable autoimmune origin that are usually asymptomatic in the initial stages and can lead to cirrhosis of the liver. Elevated cholestatic enzymes on blood tests raise suspicion of these entities. Among the idiopathic cholangitides, the most common is primary sclerosing cholangitis, which is associated with inflammatory bowel disease and with an increased incidence of hepatobiliary and digestive tract tumors. It is important to establish the differential diagnosis with IgG4-associated cholangitis, primary biliary cholangitis, and secondary cholangitides, because the therapeutic management is different. Magnetic resonance cholangiopancreatography (MRCP) is the best test to evaluate the intrahepatic and extrahepatic biliary tract, and MRI also provides information about the liver and other abdominal organs. An appropriate MRCP protocol and knowledge of the different findings that are characteristic of each entity are essential to reach the correct diagnosis.

Hemorragia vítrea una rara manifestación del hamartoma astrocítico retiniano: a propósito de un caso pediátrico / Vitreous haemorrhage a rare manifestation of retinal astrocytic hamartoma: a paediatric case report

Introducción: El hamartoma astrocítico retiniano es un tumor benigno generalmente asintomático, asociado o no al complejo de esclerosis tuberosa. La hemorragia vítrea es una rara presentación. Caso clínico: Paciente de 12 años acude por visión de "una mancha negra" en el hemicampo temporal superior del ojo derecho. Refiere un episodio similar hace 2 años. En lámpara de hendidura el polo anterior es normal. En la funduscopia se evidencia una masa de aspecto translúcido blanco-amarillenta peripapilar y hemorragia vítrea peripapilar. Las características de la autofluorescencia, angiografía fluoresceínica y la tomografía de coherencia óptica son compatibles con un hamartoma astrocítico retiniano. Los estudios complementarios (serología y radiografías) y examen clínico completo descartan afectación sistémica asociada. Se procedió a un seguimiento estrecho del paciente hasta reabsorción de la hemorragía vítrea. Conclusión: La hemorragia vítrea es una rara complicación de hamartoma astrocítico retiniano y dificulta la exploración fundoscópica. Debería descartarse afectación sistémica

Introduction: Retinal astrocytic hamartoma is generally an asymptomatic benign tumour that may or may not be associated with the tuberous sclerosis complex. Haemorrhage is a rare presentation. Case report: The case concerns a 12-year-old patient with "a black spot" vision in the upper temporal hemifield of the right eye, who referred a similar episode 2 years ago. The anterior pole was normal in the slit lamp. A mass of translucent white-yellow peri-papillary appearance and vitreous peri-papillary haemorrhage was observed in funduscopy. The autofluorescence, fluorescence angiography, and optical coherence tomography characteristics were all compatible with retinal astrocytic hamartoma. Complementary studies (serology and X-rays) and the complete clinical examination rule out associated systemic involvement. The patient was followed-up closely until the vitreous haemorrhage was reabsorbed. Conclusion: Vitreous haemorrhage is a rare complication of Retinal astrocytic hamartoma and funduscopic exploration is difficult. Systemic involvement should be ruled out

Vitreous haemorrhage a rare manifestation of retinal astrocytic hamartoma: a paediatric case report. / Hemorragia vítrea una rara manifestación del hamartoma astrocítico retiniano: a propósito de un caso pediátrico.

INTRODUCTION: Retinal astrocytic hamartoma is generally an asymptomatic benign tumour that may or may not be associated with the tuberous sclerosis complex. Haemorrhage is a rare presentation. CASE REPORT: The case concerns a 12-year-old patient with "a black spot" vision in the upper temporal hemifield of the right eye, who referred a similar episode 2 years ago. The anterior pole was normal in the slit lamp. A mass of translucent white-yellow peri-papillary appearance and vitreous peri-papillary haemorrhage was observed in funduscopy. The autofluorescence, fluorescence angiography, and optical coherence tomography characteristics were all compatible with retinal astrocytic hamartoma. Complementary studies (serology and X-rays) and the complete clinical examination rule out associated systemic involvement. The patient was followed-up closely until the vitreous haemorrhage was reabsorbed. CONCLUSION: Vitreous haemorrhage is a rare complication of Retinal astrocytic hamartoma and funduscopic exploration is difficult. Systemic involvement should be ruled out.

Resonancia magnética de la endometriosis pelviana / Magnetic resonance imaging of pelvic endometriosis

La endometriosis es una afección frecuente en mujeres en edad reproductiva, que puede causar dolor pelviano e infertilidad. Es importante el diagnóstico correcto y evaluar de forma completa su extensión, especialmente cuando se plantea un tratamiento quirúrgico. La resonancia magnética (RM), con técnica de exploración e interpretación radiológica cuidadas, permite un diagnóstico y estadificación más precisos y completos que la ecografía, especialmente en la endometriosis pelviana profunda. Además, en RM se pueden identificar implantes en localizaciones de difícil acceso para exploraciones endoscópicas o laparoscópicas. En este artículo describimos el protocolo de RM adecuado para estudiar la endometriosis pelviana, detallando la semiología en RM de la afectación en los órganos de la pelvis. Es necesario conocer y buscar hallazgos sutiles para evitar que pasen desapercibidos. Se describen sistemas de gradación clínica de la endometriosis y se revisa la eficacia diagnóstica de la RM comparada con otras técnicas de imagen y con la cirugía (AU)

Endometriosis is common in women of reproductive age; it can cause pelvic pain and infertility. It is important to diagnose endometriosis and to thoroughly evaluate its extension, especially when surgical treatment is being considered. Magnetic resonance imaging (MRI) with careful examination technique and interpretation enables more accurate and complete diagnosis and staging than ultrasonography, especially in cases of deep pelvic endometriosis. Furthermore, MRI can identify implants in sites that can be difficult to access in endoscopic or laparoscopic explorations. In this article, we describe the appropriate MRI protocol for the study of pelvic endometriosis and the MRI signs of pelvic organ involvement. It is necessary to know the subtle findings and to look for them so we can ensure that they are not overlooked. We describe clinical grading systems for endometriosis and review the diagnostic efficacy of MRI in comparison with other imaging techniques and surgery (AU)

Magnetic resonance imaging of pelvic endometriosis. / Resonancia magnética de la endometriosis pelviana.

Endometriosis is common in women of reproductive age; it can cause pelvic pain and infertility. It is important to diagnose endometriosis and to thoroughly evaluate its extension, especially when surgical treatment is being considered. Magnetic resonance imaging (MRI) with careful examination technique and interpretation enables more accurate and complete diagnosis and staging than ultrasonography, especially in cases of deep pelvic endometriosis. Furthermore, MRI can identify implants in sites that can be difficult to access in endoscopic or laparoscopic explorations. In this article, we describe the appropriate MRI protocol for the study of pelvic endometriosis and the MRI signs of pelvic organ involvement. It is necessary to know the subtle findings and to look for them so we can ensure that they are not overlooked. We describe clinical grading systems for endometriosis and review the diagnostic efficacy of MRI in comparison with other imaging techniques and surgery.

Sarcoma uterino frente a adenocarcinoma: ¿es posible distinguirlos mediante resonancia magnética? / Uterine sarcoma vs adenocarcinoma: can MRI distinguish between them?

Objetivo. Analizar las características radiológicas en resonancia magnética (RM) de sarcomas uterinos (principalmente carcinosarcomas) y compararlas con las de adenocarcinomas para definir hallazgos útiles para el diagnóstico diferencial. Material y métodos. Revisamos retrospectivamente los estudios de RM de 13 pacientes con diagnóstico histológico de sarcoma uterino. Analizamos el tamaño tumoral, la señal en secuencias T1, T2, T1 con gadolinio y difusión. Comparamos los datos obtenidos con otra serie de 30 casos consecutivos de adenocarcinomas estudiados mediante RM. Resultados. Los sarcomas presentaron un tamaño considerablemente mayor que los adenocarcinomas (p < 0,001), y midieron más de 9 cm en el 77% de los casos. No hubo diferencias en la estadificación tumoral según la FIGO valorada mediante RM y cirugía, y ambos tumores se diagnosticaron en estadios tempranos. La intensidad de señal en T2 fue significativamente diferente (p < 0,001), y el 100% de los sarcomas heterogéneos fueron predominantemente hiperintensos en T2 respecto al miometrio. El 100% de los sarcomas presentó un realce igual o mayor que el miometrial en el estudio poscontraste, con una diferencia significativa (p < 0,001) con los adenocarcinomas. En difusión no evidenciamos diferencias en los valores de ADC (apparent diffusion coefficient) en las áreas con mayor restricción, pero el mapa de ADC fue más heterogéneo en los sarcomas. Conclusión. Los sarcomas uterinos no presentan características específicas en RM, pero algunos hallazgos pueden indicar este diagnóstico. En nuestro estudio mostraron diferencias significativas con respecto a los adenocarcinomas, presentándose como tumores de mayor tamaño, de señal hiperintensa y heterogénea en T2, y con un realce mayor o igual que el miometrial (AU)

Objective. To analyze the MRI characteristics of uterine sarcomas (mainly carcinosarcomas) and to compare them with those of adenocarcinomas to define the findings that would be useful for the differential diagnosis. Materials and methods. We retrospectively reviewed the MRI studies of 13 patients with histologically diagnosed uterine sarcoma. We analyzed tumor size, signal in T2-weighted, unenhanced and gadolinium-enhanced T1-weighted, and diffusion-weighted sequences. We compared the data obtained with those of another series of 30 consecutive cases of adenocarcinomas studied with MRI. Results. The sarcomas (> 9 cm in 77% of cases) were considerably larger than the adenocarcinomas (p < 0.001). There were no differences in FIGO staging by MRI or surgery: both tumor types were diagnosed in early stages. The signal intensity in T2-weighted images differed significantly between the two tumor types: all the sarcomas were heterogeneous and predominantly hyperintense with respect to the myometrium in T2-weighted sequences (p < 0.001). In postcontrast studies, all the sarcomas showed enhancement greater than or equal to the myometrium; this finding was significantly different from the adenocarcinomas (p < 0.001). In diffusion-weighted sequences, we found no significant differences in ADC values in the areas with greatest restriction, but the ADC map was more heterogeneous in the sarcomas. Conclusion. Uterine sarcomas do not have specific characteristics on MRI, but some findings can indicate the diagnosis. In our study, we found significant differences between sarcomas and adenocarcinomas. Sarcomas were larger, had more hyperintense and heterogeneous signal intensity in T2-weighted sequences, and enhanced more than or at least as much as the myometrium (AU)

Uterine sarcoma vs adenocarcinoma: can MRI distinguish between them? / Sarcoma uterino frente a adenocarcinoma: ¿es posible distinguirlos mediante resonancia magnética?

OBJECTIVE: To analyze the MRI characteristics of uterine sarcomas (mainly carcinosarcomas) and to compare them with those of adenocarcinomas to define the findings that would be useful for the differential diagnosis. MATERIALS AND METHODS: We retrospectively reviewed the MRI studies of 13 patients with histologically diagnosed uterine sarcoma. We analyzed tumor size, signal in T2-weighted, unenhanced and gadolinium-enhanced T1-weighted, and diffusion-weighted sequences. We compared the data obtained with those of another series of 30 consecutive cases of adenocarcinomas studied with MRI. RESULTS: The sarcomas (> 9cm in 77% of cases) were considerably larger than the adenocarcinomas (p<0.001). There were no differences in FIGO staging by MRI or surgery: both tumor types were diagnosed in early stages. The signal intensity in T2-weighted images differed significantly between the two tumor types: all the sarcomas were heterogeneous and predominantly hyperintense with respect to the myometrium in T2-weighted sequences (p<0.001). In postcontrast studies, all the sarcomas showed enhancement greater than or equal to the myometrium; this finding was significantly different from the adenocarcinomas (p<0.001). In diffusion-weighted sequences, we found no significant differences in ADC values in the areas with greatest restriction, but the ADC map was more heterogeneous in the sarcomas. CONCLUSION: Uterine sarcomas do not have specific characteristics on MRI, but some findings can indicate the diagnosis. In our study, we found significant differences between sarcomas and adenocarcinomas. Sarcomas were larger, had more hyperintense and heterogeneous signal intensity in T2-weighted sequences, and enhanced more than or at least as much as the myometrium.

Tomografía computarizada multicorte para el estudio de complicaciones de la funduplicatura gástrica / Multislice computed tomography for the study of complications of gastric fundoplication

La técnica de imagen tradicionalmente empleada para valorar a los pacientes con cirugía de funduplicatura y sospecha de complicación es el tránsito esofagogastroduodenal con fluoroscopia. En este artículo describimos una nueva técnica mediante tomografía computarizada multicorte, que puede ser una herramienta útil para estudiar las funduplicaturas con sospecha de complicación o fallo tardío (AU)

The traditional approach to the imaging evaluation of patients after gastric fundoplication is an upper gastrointestinal series obtained by fluoroscopy. In this article, we describe a new technique using multislice computed tomography that we think can be useful to evaluate patients with suspected complications or late failure after gastric fundoplication (AU)

Multislice computed tomography for the study of complications of gastric fundoplication.

The traditional approach to the imaging evaluation of patients after gastric fundoplication is an upper gastrointestinal series obtained by fluoroscopy. In this article, we describe a new technique using multislice computed tomography that we think can be useful to evaluate patients with suspected complications or late failure after gastric fundoplication.

Long-term use of antimalarial drugs in rheumatic diseases.

OBJECTIVES: To evaluate long-term use of antimalarial drugs and to analyse all causes of discontinuation. METHODS: This is a retrospective study of a cohort of rheumatic diseases patients on antimalarials, during a maximum period of 17.5 years. Case was defined as antimalarial treatment discontinuation due to: a) lack of efficacy, b) adverse events, and c) other causes. Survival techniques were used to estimate the incidence rate (IR) per 1,000 patient-years with the 95% Confidence Interval (95% CI) of antimalarial treatment discontinuation. Cox regression models were conducted to evaluate possible associated factors to antimalarial discontinuation. RESULTS: One thousand, two hundred and ninety-one medical records were reviewed, and 778 patients were included. Patients started 869 different courses of treatment, with a total follow-up of 2,263 person-years. The IR of global discontinuation was 204 (95% CI 186-224). Fifty-two per cent of the treatments stopped were related to adverse events, 14% to lack of efficacy; and 34% to other reasons (refusal to take medication, ocular comorbidity, remission, or pregnancy). Adverse events discontinuations were related to non-ophthalmologic reasons in 54.5% (gastrointestinal, neuro-psychiatric, skin problems), and to ophthalmologic adverse events in 45.5%. Nine patients suffered definite presence of antimalarial retinopathy (IR: 3.97 [IC 95%: 2.06-7.62]) and one of them irreversible loss of vision (IR: 0.44 [IC 95%: 0.06-3.12]). Women, increasing age, and chloroquine vs. hydroxychloroquine use, increased the risk of discontinuation due to ophthalmologic adverse events. CONCLUSIONS: Results suggest that antimalarials have a good balance between benefit and risk. However, we noted a number of discontinuations due to both inefficacy and adverse events. The potential for an unusual but serious ophthalmologic toxicity emphasises the importance of close ophthalmologic monitoring.

Epiteliectomía conjuntival sectorial y trasplante de membrana amniótica en insuficiencia limbar parcial / Sectorial conjunctivl epitheliectomy and amniotic membrane transplantation for partial limbal stem cells deficiency

Caso clínico: Varón de 74 años de edad desarrolló una insuficiencia limbar parcial secundaria a una causticación en el ojo izquierdo. Fue tratado mediante la realización de una epiteliectomía sectorial conjuntival asociada a injerto de membrana amniótica. 3 semanas más tarde existía un epitelio corneal íntegro, estable y regular. Discusión: Este caso demuestra como la realización de una epiteliectomía sectorial asociada al injerto de membrana amniótica es un método eficaz y seguro para restaurar una superficie corneal estable en los casos de insuficiencia limbar parcial

Case report: A 74-year-old man developed a partial limbal stem cell deficiency secondary to a chemical injury in the left eye. He was treated with a sectorial conjunctival epitheliectomy and amniotic membrane transplantation. After 3 weeks there was an intact, smooth and stable corneal epithelium. Discussion: This case report emphasizes that conjunctival epitheliectomy and amniotic membrane transplantation appears to be a safe and effective method of restoring a stable corneal epithelium for cases of partial limbal stem cell deficiency

[Sectorial conjunctival epitheliectomy and amniotic membrane transplantation for partial limbal stem cells deficiency]. / Epiteliectomía conjuntival sectorial y trasplante de membrana amniótica en insuficiencia limbar parcial.

CASE REPORT: A 74-year-old man developed a partial limbal stem cell deficiency secondary to a chemical injury in the left eye. He was treated with a sectorial conjunctival epitheliectomy and amniotic membrane transplantation. After 3 weeks there was an intact, smooth and stable corneal epithelium. DISCUSSION: This case report emphasizes that conjunctival epitheliectomy and amniotic membrane transplantation appears to be a safe and effective method of restoring a stable corneal epithelium for cases of partial limbal stem cell deficiency.

[Possible recurrent multiple evanescent white dot syndrome and chroroidal neovascularization]. / Posible síndrome de múltiples manchas blancas evanescentes recurrente y neovascularización coroidea.

CASE REPORT: We present an unusual case of recurrent and bilateral multiple evanescent white dot syndrome (MEWDS), who had three bilateral episodes in a period of nine years. Thirteen years after the first episode, she was diagnosed with subretinal neovascularization (SRNV) which showed a satisfactory response to photodynamic therapy, with a final visual acuity of 20/40. DISCUSSION: MEWDS is considered classically to be an inflammatory disease with a good visual prognosis. Although the development of SRNV is unusual, we recommend long term follow-up of these patients since the early diagnosis and treatment of SRNV are both relevant for the retention of visual acuity.

Posible síndrome de múltiples manchas blancas evanescentes recurrente y neovascularización coroidea / Possible recurrent multiple evanescent white dot syndrome and choroidal neovascularization

Caso clínico: Se presenta un caso de presunto síndrome de múltiples manchas blancas evanescentes (MEWDS) recurrente y bilateral (tres episodios bilaterales en nueve años). Trece años después del episodio inicial, presentó una membrana neovascular subretiniana (MNVSR) que respondió favorablemente a terapia fotodinámica, con una agudeza visual final de 20/40. Discusión: El MEWDS se considera una enfermedad inflamatoria con buen pronóstico visual. Sin embargo, existe la posibilidad de desarrollar a largo plazo complicaciones como la MNVSR. Por ello,recomendamos el seguimiento periódico de estos pacientes por la importancia del diagnóstico y tratamiento precoz de las MNVSR en la agudeza visual final

Case report: We present an unusual case of recurrent and bilateral multiple evanescent white dot syndrome (MEWDS), who had three bilateral episodes in a period of nine years. Thirteen years after the first episode, she was diagnosed with subretinal neovascularization (SRNV) which showed a satisfactory response to photodynamic therapy, with a final visual acuity of 20/40. Discussion: MEWDS is considered classically to be an inflammatory disease with a good visual prognosis. Although the development of SRNV isunusual, we recommend long term follow-up of these patients since the early diagnosis and treatmentof SRNV are both relevant for the retention of visual acuity

Long-term treatment of refractory posterior uveitis with anti-TNFalpha (infliximab).

PURPOSE: To evaluate the long-term efficacy and safety of infliximab as treatment for noninfectious posterior uveitis. METHODS: An open-label clinical trial including seven patients (12 eyes) with posterior uveitis refractory to conventional treatment regimens with corticosteroids and at least one immunosuppressive agent. Three intravenous doses of 5 mg/kg of infliximab were administered at weeks 0, 2, and 6. Infliximab infusion was repeated in patients undergoing a relapse of uveitis after initial remission. Improvement was defined as amelioration of visual acuity or disappearance of retinal exudates and/or haemorrhages, decreased macular oedema and/or vitreous opacities. All patients were followed up for at least 36 months. RESULTS: Six of the seven patients (five diagnosed with Behçet's disease and one diagnosed with sarcoidosis) showed a significant improvement after the first infliximab dose. Only in one patient diagnosed with chronic idiopathic multifocal choroiditis did the drug have no effect, and this patient was withdrawn from the study. At the end of follow-up, one eye had lost one line of vision and three eyes showed improved vision. All eyes had improved in terms of signs of inflammation. No adverse effects of treatment were observed. CONCLUSION: Infliximab is efficient and safe for the long-term management of refractory posterior uveitis, especially in patients with predominant retinal vasculitis and vitritis.