Assuntos
Cardiomiopatia Hipertrófica/genética , Doença de Depósito de Glicogênio Tipo IIb/genética , Proteína 2 de Membrana Associada ao Lisossomo/genética , Feminino , Variação Genética , Doença de Depósito de Glicogênio Tipo IIb/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Padrões de Herança , Mutação com Perda de FunçãoRESUMO
BACKGROUND: This study evaluated the influence of platelet-rich plasma (PRP) on the histologic characteristics of autologous fat grafts to the upper lip of rabbits. METHODS: Nine New Zealand white rabbits were used. Eight of the rabbits underwent fat harvest from the groin fat pads using a modified Coleman technique. One side of the upper lip was infiltrated with autologous fat and the other side with fat and PRP. Four of the infiltrated rabbits were killed 8 weeks after the lip augmentation, and the remaining four infiltrated rabbits plus one control case were killed 12 weeks after the procedure. Coronal sections of both upper lips were analyzed microscopically to evaluate the quality of the fat graft, the inflammatory reaction, the presence of oil cysts, the degree of fibrosis, and the neovascularization. RESULTS: The infiltration of adipose tissue plus PRP presented less inflammatory reaction (p < 0.05) and fewer oil cysts (p < 0.05) than the infiltration of adipose tissue without PRP. CONCLUSIONS: The infiltration of fat tissue plus PRP generates a lower inflammatory reaction and less formation of oil cysts than the infiltration of isolated fat. Platelet-rich plasma increases the maintenance of the transplanted fat cells.
Assuntos
Tecido Adiposo/patologia , Tecido Adiposo/transplante , Lábio/patologia , Plasma Rico em Plaquetas , Transplante de Tecidos/métodos , Animais , Sobrevivência Celular , Lábio/cirurgia , Masculino , Modelos Animais , Coelhos , Transplante AutólogoRESUMO
A case of a purely eccrine nevus in an adolescent patient presenting with focal hyperhidrosis on an area comprising the left forearm and the dorsal aspect of the left hand is described. No clinically evident lesions were identifiable. Dermatopathologic findings were subtle, showing only a slight increase in the number of eccrine glands. Clinicopathological correlation was paramount to achieve the diagnosis.
RESUMO
Giant cell reparative granuloma (GCRG) is a rare fibroosseous lesion uncommonly seen in the orbital area. Although benign, it is known to be recurrent and locally destructive. We report two cases of GCRG of the orbit. In both cases, computed tomography revealed a heterogeneously growing well-defined mass, arising from the roof of the orbit, affecting the cortex, and invading the orbit. In the first case, the mass extended into the anterior cranial fossa. Magnetic resonance imaging with gadolinium showed, in both cases, a cystic character of the lesion with fluid levels. The surgical treatment was performed via an upper crease incision. An ultrasonic aspirator system was used to remove the tumor tissue and its extension into cranial fossa. Careful histopathologic analysis established the diagnosis of GCRG. Symptoms resolved completely with no evidence of recurrence after a follow-up of 18 and 14 months, respectively. We present the clinicopathological and radiological findings, and we describe the surgical approach. As a rare entity, GCRG of the orbit should be considered in differential diagnosis of fibroosseous orbital masses. Complete surgical excision carries a low risk of recurrence.
RESUMO
Non-compacted myocardiopathy is rare, the prevalence ranging between 0.01-0.26%. in adults. We present the macroscopic, microscopic and electron microscopy findings of cardiac transplant samples from a 36-year-old patient diagnosed with non-compacted myocardiopathy. This condition shows a high genetic and phenotypic heterogeneity, with superposition of different phenotypes and variability in the hereditary patterns. Clinical diagnosis is established by coupling imaging results to clinical characteristics. The clinical manifestations of non-compacted myocardiopathy are variable, including arrhythmic events and variable degrees of cardiac failure, although some patients may be asymptomatic. In certain cases a heart transplant may be necessary. The differential diagnosis should be made with hypertrophic and dilated myocardiopathy. However, only a few reports can be found in the literature that discuss the pathology of this condition.
Assuntos
Cardiomiopatias/patologia , Miocárdio/patologia , Adulto , Procedimentos Cirúrgicos Cardíacos , Cardiomegalia/patologia , Cardiomiopatias/genética , Cardiomiopatias/cirurgia , Cardiomiopatia Dilatada/patologia , Diagnóstico Diferencial , Feminino , Transplante de Coração , Humanos , Miocárdio/ultraestruturaRESUMO
Pulmonary veno-occlusive disease (PVOD) is a very infrequent form of pulmonary arterial hypertension with an aggressive clinical course, poor response to specific vasodilator treatment, and low survival. Confirming a definitive diagnosis is essential to guide treatment and assess lung transplantation. However, in the absence of histological or genetic confirmation, the diagnosis is complex, requiring a clinical suspicion. Multidetector computed tomography (MDCT) is an essential part of the non-invasive diagnostic tools of PVOD. We retrospectively reviewed the MDCT findings from a consecutive series of 25 patients diagnosed with PVOD, 9 with the sporadic form and 16 with the hereditary form of the disease. The presence and extent of typical findings of the diagnostic triad were assessed in all patients (ground glass parenchymal involvement, septal lines, and lymphadenopathy). In our series, 92% of patients showed at least two of the radiological findings described as typical of the disease. All patients presented at least one typical radiological characteristic. The incidence of radiological findings considered typical is very high, however was not associated with greater hemodynamic severity nor to the development of acute lung edema. No significant differences were found between the two groups. A poorly expressive MDCT does not exclude the disease.
RESUMO
BACKGROUND: The knowledge of hereditary predisposition has changed our understanding of Pulmonary Arterial Hypertension. Genetic testing has been widely extended and the application of Pulmonary Arterial Hypertension specific gene panels has allowed its inclusion in the diagnostic workup and increase the diagnostic ratio compared to the traditional sequencing techniques. This is particularly important in the differential diagnosis between Pulmonary Arterial Hypertension and Pulmonary Venoocclusive Disease. METHODS: Since November 2011, genetic testing is offered to all patients with idiopathic, hereditable and associated forms of Pulmonary Arterial Hypertension or Pulmonary Venoocclusive Disease included in the Spanish Registry of Pulmonary Arterial Hypertension. Herein, we present the clinical phenotype and prognosis of all Pulmonary Arterial Hypertension patients with disease-associated variants in TBX4. RESULTS: Out of 579 adults and 45 children, we found in eight patients from seven families, disease-causing associated variants in TBX4. All adult patients had a moderate-severe reduction in diffusion capacity. However, we observed a wide spectrum of clinical presentations, including Pulmonary Venoocclusive Disease suspicion, interstitial lung disease, pulmonary vascular abnormalities and congenital heart disease. CONCLUSIONS: Genetic testing is now essential for a correct diagnosis work-up in Pulmonary Arterial Hypertension. TBX4-associated Pulmonary Arterial Hypertension has marked clinical heterogeneity. In this regard, a genetic study is extremely useful to obtain an accurate diagnosis and provide appropriate management.
Assuntos
Hipertensão Pulmonar Primária Familiar/genética , Variação Genética , Proteínas com Domínio T/genética , Adolescente , Adulto , Criança , Pré-Escolar , Códon sem Sentido , Diagnóstico Diferencial , Hipertensão Pulmonar Primária Familiar/diagnóstico , Hipertensão Pulmonar Primária Familiar/diagnóstico por imagem , Feminino , Deleção de Genes , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo Único , Prognóstico , Pneumopatia Veno-Oclusiva/diagnóstico , Pneumopatia Veno-Oclusiva/genéticaRESUMO
INTRODUCTION AND OBJECTIVES: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course. METHODS: Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant. RESULTS: Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD. CONCLUSIONS: We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness.
Assuntos
DNA/genética , Mutação , Proteínas Serina-Treonina Quinases/genética , Pneumopatia Veno-Oclusiva/genética , Adulto , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Linhagem , Proteínas Serina-Treonina Quinases/metabolismo , Pneumopatia Veno-Oclusiva/congênito , Pneumopatia Veno-Oclusiva/mortalidade , Espanha/epidemiologia , Taxa de Sobrevida/tendências , Adulto JovemRESUMO
Introducción y objetivos: La enfermedad venooclusiva pulmonar (EVOP) hereditaria se relaciona con mutaciones bialélicas en EIF2AK4 y se ha descrito una mutación fundadora en pacientes ibéricos de etnia gitana con EVOP familiar. Los objetivos son la caracterización fenotípica y el análisis de supervivencia de pacientes ibéricos de etnia gitana con EVOP familiar portadores de la mutación fundadora p.Pro1115Leu en EIF2AK4, según su tolerancia clínica a vasodilatadores pulmonares (VDP). Estudio genético familiar y análisis de factores socioculturales de la etnia con potencial impacto en la propagación de la enfermedad. Métodos: Estudio observacional de pacientes de etnia gitana con EVOP familiar incluidos en el Registro Español de Hipertensión Arterial Pulmonar. Se realizó estudio genético de EIF2AK4 a casos afectados y familiares (noviembre 2011-julio 2016) y estudio histopatológico pulmonar en caso de trasplante pulmonar o fallecimiento. Los pacientes se clasificaron en tolerantes y no tolerantes a VDP, comparando sus características basales y la supervivencia libre de fallecimiento o el trasplante. Resultados: Se estudió a 18 pacientes (9 casos índice y 9 familiares afectados). Se halló la mutación fundadora en homocigosis en EIF2AK4 en todos ellos y en 2 familiares sanos, y en heterocigosis en el 34,2% de familiares sanos. Se observó elevada consanguineidad, edad joven de reproducción con multiparidad y pronóstico sombrío de nuestra cohorte existiendo diferencias significativas entre pacientes tolerantes y no tolerantes. Conclusiones: Se describen 2 fenotipos de EVOP hereditaria en etnia gitana según tolerancia a VDP e histología pulmonar, con impacto pronóstico y distribución familiar. Destacamos el papel de la consanguineidad en la propagación de la enfermedad y una alta rentabilidad del cribado genético familiar (AU)
Introduction and objectives: Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of this study were phenotypical characterization and survival analysis of Iberian Romani patients with familial PVOD carrying the founder p.Pro1115Leu mutation in EIF2AK4, according to their tolerance to pulmonary vasodilators (PVD). Familial genetic screening was conducted, as well as assessment of sociocultural determinants with a potential influence on disease course. Methods: Observational study of Romani patients with familial PVOD included in the Spanish Registry of Pulmonary Arterial Hypertension. Genetic screening of EIF2AK4 was performed in index cases and relatives between November 2011 and July 2016 and histological pulmonary examination was carried out in patients who received a lung transplant or died. The patients were divided into 2 groups depending on their tolerance to PVD, with comparison of baseline characteristics and survival free of death or lung transplant. Results: Eighteen Romani patients were included: 9 index cases and 9 relatives. The biallelic founder mutation in EIF2AK4 was found in all affected cases and 2 unaffected relatives. Family screening showed 34.2% of healthy heterozygotes, high consanguinity, young age at childbirth, and frequent multiparity. Prognosis was bleak, with significant differences depending on tolerance to PVD. Conclusions: We describe 2 phenotypes of hereditary PVOD depending on tolerance to PVD, with prognostic impact and familial distribution. Consanguinity may have a negative impact on the transmission of PVOD, with familial genetic screening showing high effectiveness (AU)
Assuntos
Humanos , Masculino , Adulto Jovem , Adulto , Pneumopatias/diagnóstico , Pneumopatias/genética , Vasodilatadores/uso terapêutico , Mutagênese/genética , Tecido Parenquimatoso/patologia , Prognóstico , Pneumopatias/patologia , Roma (Grupo Étnico)/genética , Fenótipo , 28599 , /métodosAssuntos
Neoplasias Cardíacas/secundário , Lipossarcoma Mixoide/patologia , Imagem Cinética por Ressonância Magnética , Mixoma/diagnóstico por imagem , Neoplasias Peritoneais/patologia , Idoso , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/patologia , Humanos , Lipossarcoma Mixoide/diagnóstico , Lipossarcoma Mixoide/diagnóstico por imagem , Masculino , Mixoma/diagnóstico , Mixoma/patologia , Neoplasias Peritoneais/diagnóstico , Neoplasias Peritoneais/diagnóstico por imagem , UltrassonografiaRESUMO
Las lesiones lipomatosas uterinas son una variante poco frecuente de los tumores mesenquimales benignos. Se dividen en lipomas puros y lesiones lipomatosas (difusas o focales) en el seno de un leiomioma. Presentamos el caso de una mujer de 70 años con histerectomía simple tras el diagnóstico ecográfico de «mioma gigante». Macroscópicamente la lesión correspondía a una formación lipomatosa de 13,8cm de eje máximo e histológicamente estaba constituida por células adiposas maduras, sin septos, y con cambios atróficos y traumáticos, positivas para S100 y vimentina y negativas para MDM2 y CDK4 por inmunohistoquímica e hibridación fluorescente in situ. Focalmente se identificaban áreas de degeneración mixoide y no se observaba necrosis ni hemorragia. El estudio ultraestructural fue congruente con una proliferación celular con diferenciación adiposa (AU)
Uterine fatty lesions are a rare variant of benign mesenchymal tumours. They are divided into pure and lipomatous lesions (diffuse or focal) within a leiomyoma. We report the case of a 70 year old woman who underwent a simple hysterectomy after an ultrasound diagnosis of «giant leyomioma». Macroscopically the lesion corresponded to a lipomatous formation of 13.8cm maximum diametre. Histologically the lesion consisted of mature adipose cells without septa and traumatic and atrophic changes. There was focal myxoid degeneration, but necrosis and hemorrhage were not observed. The cells were S100 and vimentin positive on immunochemistry. MDM2 and CDK4 were negative by immunochemistry and fluorescence in situ hybridization. The ultrastructural study was consistent with a cell proliferation with adipose differentiation (AU)
Assuntos
Humanos , Feminino , Idoso , Lipoma/diagnóstico , Lipoma/patologia , Neoplasias Uterinas/patologia , Imuno-Histoquímica/instrumentação , Imuno-Histoquímica/métodos , Mioma/complicações , Mioma/patologia , Hibridização in Situ Fluorescente/instrumentação , Condrossarcoma Mesenquimal/patologia , Útero/patologia , Microscopia/instrumentação , Tomografia Computadorizada de Emissão/métodosRESUMO
Presentamos un caso de un varón de 56 años con un nódulo en el testículo derecho. Los hallazgos histológicos revelaron una neoplasia epitelial bien delimitada constituida por nidos de células claras separados entre sí por finos tractos conectivo-vasculares. Con el diagnóstico de metástasis de carcinoma renal de células claras, una ecografía de ambos riñones reveló una masa renal derecha de 6,5cm de dimensión máxima. Es necesario tener en mente la posibilidad de una metástasis testicular de un tumor primario desconocido en adultos dado que la metástasis puede constituir la primera manifestación de la enfermedad(AU9
A 56 year old man presented with a nodule in the right testis. Microscopically, the well delimitated epithelial neoplasm consisted of nests of clear cells separated by a vascular network. An initial diagnosis of metastatic, clear cell type renal cell carcinoma was made. Subsequent bilateral renal ultrasound revealed a 6.5cm right renal mass. The possibility that testicular tumours in adults could be metastatic and the first manifestation of an occult primary tumour should be considered(AU)
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica/patologia , Neoplasias Testiculares/patologia , Carcinoma/patologia , Imuno-Histoquímica/métodos , Diagnóstico Diferencial , Seminoma/complicações , Seminoma/patologia , Tumor de Células de Sertoli/patologia , Células de Sertoli/patologiaRESUMO
Presentamos el caso de una mujer de 55 años, inmunocompetente,con resección de un meningioma hace 12 años,que en la misma localización de su resección previa mostróen la tomografía computerizada una masa intraaxial calcificada.Se realizó craneotomía y se resecó la masa en su totalidad.Macroscópicamente la lesión consistía en múltiplesfragmentos irregulares de consistencia dura, que medían de2 a 3 cm en su eje mayor. Microscópicamente se observó unamatriz de apariencia condromixoide, de patrón nodular,rodeada por una empalizada de células epitelioides y fusiformesen continuidad con parénquima cerebral, tejidofibroso y hueso lamelar. La lesión se diagnosticó de pseudoneoplasiacalcificante del neuroeje, también descrita comolesión fibro-ósea del sistema nervioso central. La pseudoneoplasiacalcificante del SNC es una lesión muy infrecuentey está considerada como un proceso reactivo por la mayoríade los investigadores. Se han publicado casos asociados conmeningioangiomatosis. Por lo que sabemos, este es el primercaso de pseudoneoplasia calcificante intracraneal asociada ahistoria previa de meningioma en la misma localización (AU)
55-year-old immunocompetent woman, with a historyof a resected meningioma 12 years previously, was found tohave an intraaxial calcified mass in the same area of the previoustumour by CT. A craniotomy was performed and themass was completely excised. Macroscopically, the lesionconsisted of multiple fragments of irregular, gritty, almostcalcified tissue, measuring approximately 2 to 3 cm inmaximum diameter. Microscopically, the lesion was seen tohave a chondromyxoid-like matrix in a nodular patternsurrounded by a palisade of spindle or epithelioid cells incontinuity with cerebral parenchyma, fibrous tissue andlamellar bone. The lesion was diagnosed as a calcifyingpseudotumour of the neural axis, also known as fibroosseuslesion of the central nervous system. Fibro-osseuslesions of the central nervous system are uncommon lesionsconsidered to be a reactive phenomenon by most authors.Cases associated with meningioangiomatosis have beenreported. To our knowledge, this is the first case of intracranialcalcifying pseudoneoplasm associated with a previoushistory of meningioma in the same location (AU)