ABSTRACT
El síndrome periódico asociado a la criopirina es una enfermedad rara y probablemente infradiagnosticada. Se presenta con manifestaciones sistémicas, entre ellas oftalmológicas, muy diversas, por lo que su diagnóstico supone un reto para el clínico. Presentamos el caso de una niña de 4 años en la que la identificación de papiledema en el examen oftalmológico constituyó el signo guía para el diagnóstico de síndrome periódico asociado a la criopirina. Pretendemos así concienciar sobre esta enfermedad de graves implicaciones y cuyo diagnóstico precoz resulta esencial para los afectados, para que sea tenido en cuenta con mayor frecuencia como diagnóstico diferencial (AU)
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis (AU)
Subject(s)
Humans , Female , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/diagnostic imaging , Papilledema/etiology , Diagnosis, DifferentialABSTRACT
Cryopyrin-associated periodic syndrome is a rare and probably underdiagnosed disease. It presents with various systemic manifestations, including ophthalmological, making its diagnosis a challenge for the clinician. We present the case of a 4-year-old girl for which the identification of papilledema in the ophthalmological examination was the key sign for the diagnosis of cryopyrin-associated periodic syndrome. Our aim is to raise awareness of this syndrome with serious implications for affected patients, so that it is taken into account more frequently as a differential diagnosis, allowing an early diagnosis.
Subject(s)
Cryopyrin-Associated Periodic Syndromes , Papilledema , Female , Humans , Child, Preschool , Cryopyrin-Associated Periodic Syndromes/complications , Cryopyrin-Associated Periodic Syndromes/diagnosis , Papilledema/etiology , Papilledema/complications , Diagnosis, DifferentialABSTRACT
Among all Soft Tissue sarcomas there are some subtypes with low incidence and/or peculiar clinical behaviour, that need to be consider separately. Most of them are orphan diseases, whose biological characteristics imply a clearly different diagnostic and therapeutic approach from other more common sarcoma tumors. We present a brief and updated multidiciplinary review, focused on practical issues, aimed at helping clinicians in decision making. In this second part we review these subtypes: Alveolar Soft Part Sarcoma, Epithelioid Sarcoma, Clear Cell Sarcoma, Desmoplastic Small Round Cell Tumor, Rhabdoid Tumor, Phyllodes Tumor, Tenosynovial Giant Cell Tumors, Myoepithelial Tumor, Perivascular Epithelioid Cell Neoplasms (PEComas), Extraskeletal Myxoid Chondrosarcoma, NTRK-fusions Sarcomas. Most of them present their own radiological and histopathological feautures, that are essential to know in order to achieve early diagnosis. In some of them, molecular diagnosis is mandatory, not only in the diagnosis, but also to plan the treatment. On the other hand, and despite the low incidence, a great scientific research effort has been made to achieve new treatment opportunities for these patients even with approved indications. These include new treatments with targeted therapies and immunotherapy, which today represent possible therapeutic options. It is especially important to be attentive to new and potential avenues of research, and to promote the conduct of specific clinical trials for rare sarcomas.
Subject(s)
Sarcoma/diagnosis , Sarcoma/therapy , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/therapy , Decision Making , Humans , Practice Guidelines as TopicABSTRACT
OBJECTIVES: Early initiation of antiretroviral therapy (ART) during acute HIV infection is associated with favourable clinical and epidemiological outcomes. Barriers to prompt treatment initiation limit the benefits of universal access to ART in Mexico. We sought to create an algorithm for the immediate detection and treatment of patients with acute HIV infection. METHODS: A nationwide cohort of patients with acute HIV infection was created in 2015. In order to identify cases and treat them promptly at our centre, an interdisciplinary group coordinated through an instant-messaging tool using smart phones was established. When a probable case was detected, a discussion was initiated to confirm the diagnosis and facilitate the administrative processes to initiate ART as soon as possible. We compared time to ART initiation with that in a comparison group of patients with chronic HIV infection enrolled during the same period (May 2015 to February 2017) through routine care, using survival analysis estimators and log-rank tests. RESULTS: We recruited 29 patients with acute HIV infection. The median time to ART initiation was 2 days in these patients, in contrast to 21 days for patients with chronic infection. There were no significant differences in the percentages of patients engaged in care, on treatment or virologically suppressed at 1 year of follow-up. CONCLUSIONS: Implementing immediate ART initiation programmes is feasible in Mexico, in spite of the substantial administrative barriers that exist in the country. More extensive replication of this model in other centres and in patients with chronic infection is warranted to evaluate its effect on the continuum of care.
Subject(s)
Anti-HIV Agents/administration & dosage , HIV Infections/drug therapy , Adult , Algorithms , Anti-HIV Agents/therapeutic use , Cohort Studies , Female , Humans , Male , Mexico , Middle Aged , Physician-Patient Relations , Smartphone , Survival Analysis , Tertiary Care Centers , Time-to-Treatment , Treatment OutcomeABSTRACT
Mediastinal infantile hemangioma has not been reported so far (as far as we are aware), using accurate diagnostic methods. MRI scans are essential for a correct characterization and assessment of the extension. Moreover, Endothelial cell glucose transporter 1 (GLUT1) isoform protein represents an extremely important diagnostic tool to differentiate Infantile Hemangioma from other vascular neoplasms. With regards to management, surgery appears to be the treatment of choice, although it is important to highlight that it is a rare disease and more studies are needed to establish a proper diagnostic and therapeutic protocol. The prognosis seems to be favorable, with not known cases of recurrence or progression to malignancy.
Los hemangiomas infantiles suponen los tumores más comunes en la época de la infancia. Su localización principal se sitúa en la piel, seguida del hígado. Los hemangiomas mediastínicos no han sido descritos hasta la fecha utilizando los métodos diagnósticos actuales adecuados. La resonancia magnética es esencial para una correcta caracterización y evaluación de la extensión. El estudio es histológico siendo el transportador celular de glucosa tipo 1 (GLUT-1) una importantísima herramienta diagnóstica para diferenciar el hemangioma infantil de otras neoplasias vasculares. En lo que al manejo respecta, la cirugía con excisión completa de la masa parece el tratamiento de elección. Es importante resaltar la rareza de esta enfermedad y la necesidad de realizar más estudios para establecer un adecuado protocolo diagnóstico-terapéutico. El pronóstico parece ser favorable, sin constar casos de recurrencia o progresión hacia la malignidad.
Subject(s)
Glucose Transporter Type 1/metabolism , Hemangioma/diagnostic imaging , Mediastinal Neoplasms/diagnostic imaging , Female , Hemangioma/pathology , Humans , Infant , Magnetic Resonance Imaging/methods , Mediastinal Neoplasms/pathology , PrognosisABSTRACT
El ependimoma mixopapilar de partes blandas es una neoplasia extremadamente infrecuente que se encuentra englobada dentro de los tumores ependimarios. Comunicamos el caso de un ependimoma mixopapilar de partes blandas en la región sacrococcígea en un varón de 18 años. El examen macroscópico de la pieza quirúrgica reveló la presencia de una lesión nodular bien delimitada de 8,3 cm de diámetro. Histológicamente se trataba de una proliferación tumoral de hábito epitelioide con papilas centradas por estructuras vasculares en ocasiones hialinizadas. Inmunohistoquímicamente demostró positividad para PGFA, S100, focalmente para vimentina y negatividad para CKAE1/AE3. Presentamos una revisión de la literatura y una discusión del diagnóstico diferencial (AU)
Soft tissue myxopapillary ependymoma is an extremely rare neoplasm classified as an ependymary tumour. We report a case of a soft tissue myxopapillary ependymoma in the sacrococcygeal region of an 18 year-old male. Macroscopic examination of the surgical specimen showed an 8.3 cm well-circumscribed nodular lesion. Histologically, it was seen to be a neoplastic epithelioid-like proliferation with papillae arranged around vascular structures, with occasional hyalinization. Immunohistochemistry revealed S100, GFAP and focal vimentin immunostaining but no CKAE1/AE3 expression. The differential diagnosis is discussed together with a review of the literature (AU)
Subject(s)
Humans , Male , Young Adult , Ependymoma/diagnosis , Ependymoma/pathology , Immunohistochemistry/methods , Immunohistochemistry , Diagnosis, Differential , Vimentin , Soft Tissue Neoplasms/diagnosis , Soft Tissue Neoplasms/pathology , Sacrococcygeal Region/pathology , Ependymoma/surgery , EpendymomaABSTRACT
We present the case of a left tibia with an outgrowth at its distal metaphyseal/epiphyseal end, composed of cancellous bone, surrounding a destructive process that, on radiological examination, reaches the tibiotalar joint surface. The cancellous bone of the outgrowth is well preserved and is in continuity with intramedullary cancellous bone. The tibia belonged to a prehispanic adult individual, probably male, from La Gomera, in the Canary Archipelago. The antiquity of the sample is unknown, but radiocarbon dating of other samples ranges from 1600 to1800 years BP. The lesion is suggestive of a cartilage-derived tumor, most likely a chondrosarcoma. Other etiologic possibilities are also discussed, including osteochondroma, enchondroma, chondromyxoid fibroma or chondroblastoma.
