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1.
Int J Mol Sci ; 22(8)2021 Apr 12.
Artículo en Inglés | MEDLINE | ID: mdl-33921510

RESUMEN

Rare diseases affect a small part of the population, and the most affected are children. Because of the low availability of patients for testing, the pharmaceutical industry cannot develop drugs for the diagnosis of many of these orphan diseases. In this sense, the use of benzothiazole compounds that are highly selective and can act as spectroscopy probes, especially the compound 2-(4'-aminophenyl)benzothiazole (ABT), has been highlighted. This article reports the design of potential contrast agents based on ABT and iron to develop a new material with an efficient mechanism to raise the relaxation rate, facilitating diagnosis. The ABT/δ-FeOOH hybrid material was prepared by grafting (N-(4'-aminophenyl) benzothiazole-2-bromoacetamide) on the surface of the iron oxyhydroxide particles. FTIR spectra confirmed the material formations of the hybrid material ABT/δ-FeOOH. SEM analysis checked the covering of nanoflakes' surfaces in relation to the morphology of the samples. The theoretical calculations test a better binding mode of compound with iron oxyhydroxide. Theoretical findings show the radical capture mechanism in the stabilization of this new material. In this context, Fe3+ ions are an electron acceptor from the organic phase.


Asunto(s)
Benzotiazoles/química , Medios de Contraste/uso terapéutico , Compuestos Férricos/química , Enfermedades Raras/diagnóstico , Medios de Contraste/química , Humanos , Iones/química , Hierro/química , Fenómenos Magnéticos , Enfermedades Raras/diagnóstico por imagen , Enfermedades Raras/patología , Análisis Espectral
2.
Rev. Soc. Bras. Clín. Méd ; 18(4): 217-221, DEZ 2020.
Artículo en Portugués | LILACS | ID: biblio-1361632

RESUMEN

A sarcoidose caracteriza-se como doença granulomatosa que acomete diferentes órgãos humanos, especialmente os pulmões, sendo sua patogênese pouco conhecida. No caso em questão, a paciente iniciou com sintomas inespecíficos, como fraqueza, perda ponderal e tosse seca esporádica, sendo internada para extensão da propedêutica. Sugeriu-se como hipótese diagnóstica inicial possível quadro de mieloma múltiplo, tendo em vista a anemia, a disfunção renal, a hipercalcemia e, sobretudo, as lesões osteolíticas apresentadas pela paciente. Todavia, o diagnóstico de sarcoidose foi selado a partir das biópsias de medula óssea e de linfonodo inguinal, que evidenciaram mielite e linfadenite granulomatosas, respectivamente. A terapêutica instituída baseou-se na administração de corticosteroides e em medidas de redução da calcemia. A paciente recebeu alta, com melhora do quadro clínico, para acompanhamento ambulatorial da doença. Conclui-se que a sarcoidose não possui tratamento curativo, mas a terapêutica imunossupressora é eficaz no controle da progressão da enfermidade, fazendo com que o paciente tenha um prognóstico favorável.


Sarcoidosis is characterized as a granulomatous disease that affects different human organs, especially the lungs, and its pathogenesis is little known. In this case, the patient started with nonspecific symptoms, such as weakness, weight loss, and sporadic dry cough, being hospitalized for extension of the propaedeutics. The initial diagnostic hypothesis suggested was a possible case of multiple myeloma, based on the anemia, renal dysfunction, hypercalcemia and, above all, the osteolytic lesions presented by the patient. However, the diagnosis of sarcoidosis was made after bone marrow and inguinal lymph node biopsies that showed granulomatous myelitis and lymphadenitis, respectively. The therapy instituted was based on the administration of corticosteroids and on measures to reduce the level of calcium. The patient was discharged, with clinical improvement, for outpatient follow-up of the disease. It is concluded that sarcoidosis has no curative treatment, but immunosuppressive therapy is effective in controlling the progression of the disease, giving the patient a favorable prognosis.


Asunto(s)
Humanos , Femenino , Anciano , Sarcoidosis/diagnóstico por imagen , Enfermedades Raras/diagnóstico por imagen , Mieloma Múltiple/diagnóstico por imagen , Sarcoidosis/tratamiento farmacológico , Rayos X , Biopsia , Electroforesis de las Proteínas Sanguíneas , Médula Ósea/patología , Prednisona/uso terapéutico , Tomografía Computarizada por Rayos X , Corticoesteroides/uso terapéutico , Creatinina/sangre , Diagnóstico Diferencial , Lesión Renal Aguda/diagnóstico , Hipercalcemia , Anemia , Ganglios Linfáticos/patología , Linfadenitis/diagnóstico , Mielitis/diagnóstico
3.
Clin. biomed. res ; 40(1): 58-60, 2020.
Artículo en Inglés | LILACS | ID: biblio-1117425

RESUMEN

Report of two cases of gastric diverticulum (GD) documented by upper gastrointestinal contrast radiographic studies and computed tomography (CT).


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Anciano , Divertículo Gástrico/diagnóstico por imagen , Enfermedades Raras/diagnóstico por imagen
6.
Rev Assoc Med Bras (1992) ; 64(7): 577-580, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30365656

RESUMEN

Frantz' tumours or solid pseudopapillary tumours of the pancreas are rare neoplasms with low malignant potential. Young women in the second to third decades of life are more frequently affected. The treatment of choice is resection of the lesion, which is often curative. The recurrence is uncommon when radical surgical resection is used. Radiological characteristics are important for the correct diagnosis, since the preoperative planning is fundamental to obtain the cure. The objective of this study is to report a rare case of locoregional recurrence and to review the radiological findings of solid pseudopapillary tumours of the pancreas in the literature, as well to know the incidence and risk factors of tumor recurrence. This case report is from a 37-year-old female patient evaluated at an Oncologic Hospital, in the city of São Paulo, Brazil, who presented an uncommon evolution of the disease, characterized by local recurrence despite the complete resection of the primary lesion with free margins.


Asunto(s)
Recurrencia Local de Neoplasia/complicaciones , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias Pancreáticas/diagnóstico por imagen , Neoplasias Pancreáticas/cirugía , Adulto , Femenino , Humanos , Imagen por Resonancia Magnética , Pancreatectomía , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico por imagen , Tomografía Computarizada por Rayos X
7.
São Paulo med. j ; São Paulo med. j;136(5): 492-496, Sept.-Oct. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-979372

RESUMEN

ABSTRACT CONTEXT: Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. Case Report: A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. CONCLUSIONS: Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Infecciones Fúngicas del Sistema Nervioso Central/diagnóstico por imagen , Criptococosis/diagnóstico por imagen , Cryptococcus neoformans/aislamiento & purificación , Inmunocompetencia , Neoplasias Encefálicas/patología , Neoplasias Encefálicas/diagnóstico por imagen , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Huésped Inmunocomprometido , Resultado Fatal , Infecciones Fúngicas del Sistema Nervioso Central/patología , Criptococosis/patología , Enfermedades Raras/patología , Enfermedades Raras/diagnóstico por imagen , Diagnóstico Diferencial
8.
Rev. Assoc. Med. Bras. (1992, Impr.) ; Rev. Assoc. Med. Bras. (1992, Impr.);64(7): 577-580, July 2018. graf
Artículo en Inglés | LILACS | ID: biblio-976831

RESUMEN

SUMMARY Frantz' tumours or solid pseudopapillary tumours of the pancreas are rare neoplasms with low malignant potential. Young women in the second to third decades of life are more frequently affected. The treatment of choice is resection of the lesion, which is often curative. The recurrence is uncommon when radical surgical resection is used. Radiological characteristics are important for the correct diagnosis, since the preoperative planning is fundamental to obtain the cure. The objective of this study is to report a rare case of locoregional recurrence and to review the radiological findings of solid pseudopapillary tumours of the pancreas in the literature, as well to know the incidence and risk factors of tumor recurrence. This case report is from a 37-year-old female patient evaluated at an Oncologic Hospital, in the city of São Paulo, Brazil, who presented an uncommon evolution of the disease, characterized by local recurrence despite the complete resection of the primary lesion with free margins.


RESUMO Os tumores de Frantz ou tumores pseudopapilares sólidos do pâncreas são neoplasias raras, que apresentam baixo potencial maligno. A maioria acomete mulheres jovens na segunda a terceira década de vida. O tratamento de escolha é a ressecção da lesão, uma vez que é frequentemente curativa. A recidiva é incomum quando é empregada ressecção cirúrgica completa. As características radiológicas são importantes para a hipótese diagnóstica, uma vez que o planejamento pré-operatório é fundamental para a obtenção da cura. O presente estudo tem como objetivo relatar um caso raro de recidiva locorregional e rever na literatura os achados radiológicos dos tumores pseudopapilares sólidos do pâncreas, assim como conhecer a incidência e os fatores de risco da recorrência tumoral. Este relato de caso é de uma paciente do sexo feminino, de 37 anos, avaliada em um hospital de referência oncológica, na cidade de São Paulo, Brasil, que apresentou uma evolução incomum da doença, caracterizada pela recorrência locorregional, apesar da ressecção da lesão primária com margens livres.


Asunto(s)
Humanos , Femenino , Adulto , Neoplasias Pancreáticas/cirugía , Neoplasias Pancreáticas/diagnóstico por imagen , Recurrencia Local de Neoplasia/complicaciones , Recurrencia Local de Neoplasia/diagnóstico por imagen , Pancreatectomía , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico por imagen
9.
Rev Assoc Med Bras (1992) ; 64(1): 19-21, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29561938

RESUMEN

Peliosis hepatis is a rare benign disorder characterized by the presence of multiple cavities filled with blood with no preferential localization in the liver parenchyma. It may be related to several etiologic conditions, especially infections and toxicity of immunosuppressive drugs. To our knowledge, there are only three articles reporting the association between peliosis hepatis and systemic lupus erythematosus. In this report, we describe a case of this rare condition, highlighting the importance of magnetic resonance imaging. A short review of this subject is also presented.


Asunto(s)
Lupus Eritematoso Sistémico/complicaciones , Peliosis Hepática/diagnóstico por imagen , Peliosis Hepática/etiología , Enfermedades Raras/diagnóstico por imagen , Femenino , Humanos , Imagen por Resonancia Magnética , Persona de Mediana Edad , Tomografía Computarizada por Rayos X
10.
Rev. Assoc. Med. Bras. (1992, Impr.) ; Rev. Assoc. Med. Bras. (1992, Impr.);64(1): 19-21, Jan. 2018. graf
Artículo en Inglés | LILACS | ID: biblio-896417

RESUMEN

Summary Peliosis hepatis is a rare benign disorder characterized by the presence of multiple cavities filled with blood with no preferential localization in the liver parenchyma. It may be related to several etiologic conditions, especially infections and toxicity of immunosuppressive drugs. To our knowledge, there are only three articles reporting the association between peliosis hepatis and systemic lupus erythematosus. In this report, we describe a case of this rare condition, highlighting the importance of magnetic resonance imaging. A short review of this subject is also presented.


Resumo Peliose hepática é uma patologia benigna rara caracterizada pela presença de múltiplas cavidades preenchidas por sangue sem localização preferencial no parênquima do fígado. Pode estar relacionada a uma série de condições etiológicas, dentre elas doenças infecciosas e toxicidade por drogas imunossupressoras. Para nosso conhecimento, existem apenas três artigos que abordam a associação entre peliose hepática e lúpus eritematoso sistêmico. Neste relato, descrevemos um caso desta rara condição, destacando a importância da ressonância magnética. Uma breve revisão sobre o tema é apresentada.


Asunto(s)
Humanos , Femenino , Peliosis Hepática/etiología , Peliosis Hepática/diagnóstico por imagen , Enfermedades Raras/diagnóstico por imagen , Lupus Eritematoso Sistémico/complicaciones , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , Persona de Mediana Edad
11.
Sao Paulo Med J ; 136(5): 492-496, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29116307

RESUMEN

CONTEXT: Central nervous system (CNS) infectious diseases have high prevalence in developing countries and their proper diagnosis and treatment are very important for public health planning. Cryptococcus neoformans is a fungus that may cause several CNS manifestations, especially in immunocompromised patients. Cryptococcal meningitis is the most common type of involvement. Mass-effect lesions are uncommon: they are described as cryptococcomas and their prevalence is even lower among immunocompetent patients. The aim here was to report an extremely rare case of cryptococcoma causing a mass effect and mimicking a brain tumor in an immunocompetent patient. The literature on CNS cryptococcal infections was reviewed with emphasis on cryptococcomas. Clinical, surgical and radiological data on a female patient with this rare presentation of cryptococcoma mimicking a brain tumor are described. CASE REPORT: A 54-year-old female patient presented to the emergency department with a rapid-onset progressive history of confusion and completely dependency for basic activities. Neuroimaging showed a left occipital lesion and neurosurgical treatment was proposed. From histopathological evaluation, a diagnosis of cryptococcoma was established. She received clinical support with antifungals, but despite optimal clinical treatment, her condition evolved to death. CONCLUSIONS: Cryptococcal infections have several forms of presentation and, in immunocompetent patients, their manifestation may be even more different. Cryptococcoma is an extremely rare presentation in which proper surgical and clinical treatment should be instituted as quickly as possible, but even so, there is a high mortality rate.


Asunto(s)
Infecciones Fúngicas del Sistema Nervioso Central/diagnóstico por imagen , Criptococosis/diagnóstico por imagen , Cryptococcus neoformans/aislamiento & purificación , Inmunocompetencia , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/patología , Infecciones Fúngicas del Sistema Nervioso Central/patología , Criptococosis/patología , Diagnóstico Diferencial , Resultado Fatal , Femenino , Humanos , Huésped Inmunocomprometido , Imagen por Resonancia Magnética , Persona de Mediana Edad , Enfermedades Raras/diagnóstico por imagen , Enfermedades Raras/patología , Tomografía Computarizada por Rayos X
12.
An Bras Dermatol ; 92(5 Suppl 1): 37-39, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29267441

RESUMEN

Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune subepidermal blistering disease, with few cases described in childhood. It has different clinical-pathological features. We report a case of BSLE in a 10-year-old child with systemic lupus erythematosus, treated with prednisone and hydroxychloroquine. There was complete remission with dapsone, with no recurrence of skin lesions throughout one year of follow-up. We highlight the rarity and early age of occurrence.


Asunto(s)
Vesícula/patología , Lupus Eritematoso Sistémico/patología , Membrana Basal/patología , Biopsia , Vesícula/tratamiento farmacológico , Niño , Femenino , Técnica del Anticuerpo Fluorescente Directa , Humanos , Lupus Eritematoso Sistémico/tratamiento farmacológico , Enfermedades Raras/diagnóstico por imagen , Enfermedades Raras/patología
13.
Medwave ; 17(8): e7040, 2017 Sep 14.
Artículo en Español, Inglés | MEDLINE | ID: mdl-28914826

RESUMEN

INTRODUCTION: Pulmonary alveolar proteinosis is a rare, diffuse interstitial lung disease, characterized by alveolar obstruction due to the accumulation of pulmonary surfactant. CLINICAL PRESENTATION: A 30-year-old male with progressively worsening dyspnea and non-productive cough for one year. He was a sugar cane plantation worker and had prior recurrent respiratory infections. Physical exam revealed cyanosis, and bilateral coarse and fine rales. Chest computed tomography showed diffuse crazy paving pattern. Bronchoscopy with bronchoalveolar lavage yielded a foamy, thick whitish material. Cytology revealed lymphocytes and acellular proteinaceous eosinophilic material. Transbronchial biopsy confirmed the diagnosis of pulmonary alveolar proteinosis. Patient met criteria for whole lung lavage, responding favorably to this therapy. CONCLUSION: Pulmonary alveolar proteinosis is a rare lung disease and important to consider due to the diagnostic and therapeutic challenge it represents.


INTRODUCCIÓN: La proteinosis alveolar pulmonar es una enfermedad intersticial difusa poco frecuente, en la cual se produce obstrucción alveolar, debido al acúmulo de surfactante pulmonar. REPORTE DEL CASO: Varón de 30 años de edad, presentó disnea progresiva y tos seca de un año de evolución. Antecedente personal: estibador de caña de azúcar. Presentó infecciones respiratorias recurrentes. Al examen físico se encontró cianosis, crepitantes difusos bilaterales y subcrepitantes en bases pulmonares. En la tomografía torácica con contraste se encontró un patrón de "empedrado loco". Se realizó videobroncoscopia con lavado broncoalveolar, aspirando material lechoso, espumoso y mucoso. Por citología se encontró linfocitos y material eosinofílico proteináceo acelular. El estudio anatomopatológico de la biopsia transbronquial reveló proteinosis alveolar pulmonar. El paciente reunió los criterios para tratamiento con lavado broncoalveolar total. Luego de este procedimiento, evolucionó favorablemente. CONCLUSIÓN: La proteinosis alveolar pulmonar constituye una enfermedad importante a considerar, por el desafío diagnóstico y terapéutico que representa.


Asunto(s)
Lavado Broncoalveolar/métodos , Disnea/etiología , Proteinosis Alveolar Pulmonar/diagnóstico , Adulto , Biopsia , Broncoscopía/métodos , Tos/etiología , Humanos , Masculino , Proteinosis Alveolar Pulmonar/diagnóstico por imagen , Proteinosis Alveolar Pulmonar/fisiopatología , Enfermedades Raras/diagnóstico , Enfermedades Raras/diagnóstico por imagen , Enfermedades Raras/fisiopatología , Tomografía Computarizada por Rayos X
14.
Arq Neuropsiquiatr ; 75(2): 92-95, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-28226077

RESUMEN

METHODS: Series of cases collected from Brazilian centers. RESULTS: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. CONCLUSION: SS-CNS is a rare disease that may remain undiagnosed for long periods. Awareness of this condition is essential for the clinician.


Asunto(s)
Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Siderosis/diagnóstico por imagen , Adulto , Anciano , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedades Raras/diagnóstico por imagen
15.
Arq. neuropsiquiatr ; Arq. neuropsiquiatr;75(2): 92-95, Feb. 2017. tab, graf
Artículo en Inglés | LILACS | ID: biblio-838869

RESUMEN

ABSTRACT Superficial siderosis (SS) of the central nervous system (CNS) is a rare and possibly underdiagnosed disorder resulting from chronic or intermittent bleeding into the subarachnoid space, leading to deposition of blood products in the subpial layers of the meninges. Magnetic resonance imaging (MRI) shows a characteristic curvilinear pattern of hypointensity on its blood-sensitive sequences. Methods Series of cases collected from Brazilian centers. Results We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion SS-CNS is a rare disease that may remain undiagnosed for long periods. Awareness of this condition is essential for the clinician.


RESUMO Siderose superficial (SS) do sistema nervoso central (SNC) é uma doença rara e provavelmente subdiagnosticada, resultante de sangramento crônico no espaço subaracnóide, levando ao depósito de produtos sanguíneos nas camadas meníngeas subpiais. Ressonância magnética (RM) mostra um padrão curvilíneo característico com hipointensidade nas suas sequências sensíveis a sangue. Métodos Série de casos coletados de centros brasileiros. Resultados Apresentamos 13 casos de pacientes com história progressiva de disfunção neurológica causada por SS-SNC. Os achados clínicos mais frequentes destes pacientes foram ataxia progressiva da marcha, perda auditiva, hiperreflexia e disfunção cognitiva. O diagnóstico de SS-SNC foi firmado de sete meses a 30 anos após o início da doença. Conclusão SS-SNC é uma condição rara que pode permanecer sem diagnóstico por longos períodos. O conhecimento desta entidade é essencial ao clínico.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen , Siderosis/diagnóstico por imagen , Imagen por Resonancia Magnética , Enfermedades Raras/diagnóstico por imagen
16.
An. bras. dermatol ; An. bras. dermatol;92(5,supl.1): 37-39, 2017. graf
Artículo en Inglés | LILACS | ID: biblio-887065

RESUMEN

Abstract: Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune subepidermal blistering disease, with few cases described in childhood. It has different clinical-pathological features. We report a case of BSLE in a 10-year-old child with systemic lupus erythematosus, treated with prednisone and hydroxychloroquine. There was complete remission with dapsone, with no recurrence of skin lesions throughout one year of follow-up. We highlight the rarity and early age of occurrence.


Asunto(s)
Humanos , Femenino , Niño , Vesícula/patología , Lupus Eritematoso Sistémico/patología , Membrana Basal/patología , Biopsia , Vesícula/tratamiento farmacológico , Técnica del Anticuerpo Fluorescente Directa , Enfermedades Raras/patología , Enfermedades Raras/diagnóstico por imagen , Lupus Eritematoso Sistémico/tratamiento farmacológico
17.
An Bras Dermatol ; 90(3): 423-5, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26131880

RESUMEN

The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.


Asunto(s)
Falanges de los Dedos de la Mano , Uñas Malformadas , Adolescente , Falanges de los Dedos de la Mano/anomalías , Falanges de los Dedos de la Mano/diagnóstico por imagen , Dedos/anomalías , Dedos/diagnóstico por imagen , Humanos , Masculino , Uñas Malformadas/congénito , Uñas Malformadas/diagnóstico por imagen , Radiografía , Enfermedades Raras/congénito , Enfermedades Raras/diagnóstico por imagen , Síndrome
18.
Rev. Méd. Clín. Condes ; 26(4): 432-441, jul. 2015. ilus, tab
Artículo en Español | LILACS | ID: biblio-1129069

RESUMEN

El diagnóstico y manejo prenatal de enfermedades raras involucra un estudio multidisciplinario. Desde una visión obstétrica, herramientas de imagenología como la ultrasonografía y en menor medida la resonancia magnética fetal (RMF) son esenciales para el diagnóstico de anomalías morfológicas y sospecha de defectos cromosómicos. Para el diagnóstico de enfermedades cromosómicas el estudio de cariograma obtenido de vellosidades coriales, líquido amniótico o sangre fetal mediante técnicas invasivas tal como biopsia corial, amniocentesis o cordocentesis ha sido hasta hace poco el gold standard del diagnóstico. Nuevas técnicas moleculares capaces de detectar microdeleciones como es el microarray nos ha permitido aproximarnos al origen de las enfermedades raras. Se revisarán además algunos de los defectos anatómicos raros y su enfoque neonatal.


Prenatal diagnosis and management of rare diseases is a multidisciplinary task. From the obstetric vision, prenatal diagnosis is based on fetal images obtained by ultrasound or magnetic resonance and fetal chromosomes study. The study of fetal morphology allows us the diagnosis of fetal abnormalities and the suspicion of chromosomal defects. Fetal chromosomal study is obtained either by chorionic villus sampling, amniocentesis and cordocentesis, all associated to fetal risk. New screening techniques such as fetal DNA on maternal blood or the study of fetal micro deletions using micro Array on amniotic fluid has extended diagnostic opportunity of rare fetal diseases. We will review some of the most common rare diseases and the neonatal approach.


Asunto(s)
Humanos , Femenino , Embarazo , Enfermedades Raras/diagnóstico por imagen , Enfermedades Fetales/diagnóstico por imagen , Imagen por Resonancia Magnética , Tamizaje Masivo , Aberraciones Cromosómicas , Ultrasonografía , Enfermedades Raras/genética , Enfermedades Fetales/genética , Hernia Diafragmática/diagnóstico por imagen , Enfermedades del Sistema Nervioso/diagnóstico por imagen
20.
An. bras. dermatol ; An. bras. dermatol;90(3): 423-425, May-Jun/2015. graf
Artículo en Inglés | LILACS | ID: lil-749667

RESUMEN

Abstract The Iso-Kikuchi Syndrome is a rare condition characterized by nail dysplasia involving the index fingers, including micronychia, polyonychia, anonychia, irregular lunula, malalignment and hemionychogryphosis. On the antero-posterior image, radiologic examination reveals a narrowing of the distal phalanx. The lateral image shows a Y-shaped bifurcation of the distal phalanx. We report a case of a patient with typical clinical and radiologic signs of Iso-Kikuchi Syndrome.


Asunto(s)
Humanos , Masculino , Adolescente , Falanges de los Dedos de la Mano , Uñas Malformadas , Síndrome , Radiografía , Enfermedades Raras/congénito , Enfermedades Raras/diagnóstico por imagen , Falanges de los Dedos de la Mano/anomalías , Falanges de los Dedos de la Mano/diagnóstico por imagen , Dedos/anomalías , Dedos/diagnóstico por imagen , Uñas Malformadas/congénito , Uñas Malformadas/diagnóstico por imagen
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