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1.
Arq Bras Cir Dig ; 36: e1763, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37729278

RESUMO

BACKGROUND: Hepatosplenic schistosomiasis is an endemic disease prevalent in tropical countries and is associated with a high incidence of portal vein thrombosis. Inflammatory changes caused by both parasitic infection and portal thrombosis can lead to the development of chronic liver disease with potential carcinogenesis. AIMS: To assess the incidence of portal vein thrombosis and hepatocellular carcinoma in patients with schistosomiasis during long-term follow-up. METHODS: A retrospective study was conducted involving patients with schistosomiasis followed up at our institution between 1990 and 2021. RESULTS: A total of 126 patients with schistosomiasis were evaluated in the study. The mean follow-up time was 16 years (range 5-31). Of the total, 73 (57.9%) patients presented portal vein thrombosis during follow-up. Six (8.1%) of them were diagnosed with hepatocellular carcinoma, all with portal vein thrombosis diagnosed more than ten years before. CONCLUSIONS: The incidence of hepatocellular carcinoma in patients with schistosomiasis and chronic portal vein thrombosis highlights the importance of a systematic long-term follow-up in this group of patients.


Assuntos
Carcinoma Hepatocelular , Neoplasias Hepáticas , Esquistossomose , Trombose , Humanos , Carcinoma Hepatocelular/complicações , Veia Porta , Estudos Retrospectivos , Neoplasias Hepáticas/complicações , Fatores de Risco , Esquistossomose/complicações
2.
ABCD (São Paulo, Online) ; 36: e1763, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1513503

RESUMO

ABSTRACT BACKGROUND: Hepatosplenic schistosomiasis is an endemic disease prevalent in tropical countries and is associated with a high incidence of portal vein thrombosis. Inflammatory changes caused by both parasitic infection and portal thrombosis can lead to the development of chronic liver disease with potential carcinogenesis. AIMS: To assess the incidence of portal vein thrombosis and hepatocellular carcinoma in patients with schistosomiasis during long-term follow-up. METHODS: A retrospective study was conducted involving patients with schistosomiasis followed up at our institution between 1990 and 2021. RESULTS: A total of 126 patients with schistosomiasis were evaluated in the study. The mean follow-up time was 16 years (range 5-31). Of the total, 73 (57.9%) patients presented portal vein thrombosis during follow-up. Six (8.1%) of them were diagnosed with hepatocellular carcinoma, all with portal vein thrombosis diagnosed more than ten years before. CONCLUSIONS: The incidence of hepatocellular carcinoma in patients with schistosomiasis and chronic portal vein thrombosis highlights the importance of a systematic long-term follow-up in this group of patients.


RESUMO RACIONAL: A esquistossomose hepatoesplênica é uma doença endêmica prevalente em países tropicais e está associada a uma alta incidência de trombose da veia porta. Alterações inflamatórias causadas tanto pela infecção parasitária quanto pela trombose portal podem levar ao desenvolvimento de doença hepática crônica com potencial carcinogênico. OBJETIVOS: Avaliar a incidência de trombose da veia porta e carcinoma hepatocelular em pacientes com esquistossomose durante um seguimento de longo prazo. MÉTODOS: Foi realizado estudo retrospectivo envolvendo pacientes com esquistossomose acompanhados em nossa instituição entre 1990 e 2021. RESULTADOS: Um total de 126 pacientes com esquistossomose foram avaliados no estudo. O tempo médio de acompanhamento foi de 16 anos (variando de 5 a 31). Do total, 73 (57,9%) pacientes apresentaram trombose da veia porta durante o seguimento e seis (8,1%) deles foram diagnosticados com carcinoma hepatocelular, todos com trombose da veia porta diagnosticada há mais de 10 anos. CONCLUSÕES: A incidência de carcinoma hepatocelular em pacientes com esquistossomose e trombose da veia porta crônica destaca a importância de um acompanhamento sistemático de longo prazo nesse grupo de pacientes.

3.
Front Endocrinol (Lausanne) ; 14: 1308662, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38264280

RESUMO

The best-known etiologies of hyperinsulinemic hypoglycemia are insulinoma, non-insulinoma pancreatogenous hypoglycemic syndrome, autoimmune processes, and factitious hypoglycemia. In 2009, a disease not associated with classic genetic syndromes and characterized by the presence of multiple pancreatic lesions was described and named insulinomatosis. We present the clinical and pathologic features of four patients with the diagnosis of insulinomatosis, aggregated new clinical data, reviewed extensively the literature, and illustrated the nature and evolution of this recently recognized disease. One of our patients had isolated (without fasting hypoglycemia) postprandial hypoglycemia, an occurrence not previously reported in the literature. Furthermore, we reported the second case presenting malignant disease. All of them had persistent/recurrent hypoglycemia after the first surgery even with pathology confirming the presence of a positive insulin neuroendocrine tumor. In the literature review, 27 sporadic insulinomatosis cases were compiled. All of them had episodes of fasting hypoglycemia except one of our patients. Only two patients had malignant disease, and one of them was from our series. The suspicion of insulinomatosis can be raised before surgery in patients without genetic syndromes, with multiple tumors in the topographic investigation and in those who had persistent or recurrent hypoglycemia after surgical removal of one or more tumors. The definitive diagnosis is established by histology and immunohistochemistry and requires examination of the "macroscopically normal pancreas." Our case series reinforces the marked predominance in women, the high frequency of recurrent hypoglycemia, and consequently, a definitive poor response to the usual surgical treatment.


Assuntos
Hiperinsulinismo , Hipoglicemia , Tumores Neuroendócrinos , Humanos , Feminino , Afeto , Hipoglicemiantes
4.
Ann Hepatol ; 27(4): 100707, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35477031

RESUMO

INTRODUCTION: Although hyperferritinemia may reflect the inflammatory status of patients with non-alcoholic fatty liver disease (NAFLD), approximately 33% of hyperferritinemia cases reflect real hepatic iron overload. AIM: To evaluate a non-invasive method for assessing mild iron overload in patients with NAFLD using 3T magnetic resonance imaging (MRI) relaxometry, serum hepcidin, and the expression of ferritin subunits. METHODS: This cross-sectional study assessed patients with biopsy-proven NAFLD. MRI relaxometry was performed using a 3T scanner in all patients, and the results were compared with iron content determined by liver biopsy. Ferritin, hepcidin, and ferritin subunits were assessed and classified according to ferritin levels and to siderosis identified by liver biopsy. RESULTS: A total of 67 patients with NAFLD were included in the study. MRI revealed mild iron overload in all patients (sensitivity, 73.5%; specificity, 70%). For mild (grade 1) siderosis, the transverse relaxation rate (R2*) threshold was 58.9 s-1 and the mean value was 72.5 s-1 (SD, 33.9), while for grades 2/3 it was 88.2 s-1 (SD, 31.9) (p < 0.001). The hepcidin threshold for siderosis was > 30.2 ng/mL (sensitivity, 87%; specificity, 82%). Ferritin H and ferritin L subunits were expressed similarly in patients with NAFLD, regardless of siderosis. There were no significant differences in laboratory test results between the groups, including glucose parameters and liver function tests. CONCLUSIONS: MRI relaxometry and serum hepcidin accurately assessed mild iron overload in patients with dysmetabolic iron overload syndrome.


Assuntos
Hiperferritinemia , Sobrecarga de Ferro , Síndrome Metabólica , Hepatopatia Gordurosa não Alcoólica , Siderose , Estudos Transversais , Ferritinas , Hepcidinas , Humanos , Sobrecarga de Ferro/diagnóstico por imagem , Sobrecarga de Ferro/etiologia , Fígado/patologia , Síndrome Metabólica/metabolismo , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/diagnóstico por imagem , Siderose/metabolismo , Siderose/patologia
5.
Radiographics ; 42(3): 722-740, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35363553

RESUMO

Liver surgery may be a curative treatment option not only for primary liver neoplasms but also for liver metastases in selected patients. The number of liver surgeries performed worldwide has increased, but surgical morbidity associated with these surgeries remains significant. Therefore, radiologists need to understand the terminology, surgical techniques, resectability and unresectability criteria, and possible postoperative complications as these are part of the decision-making process. Because vascular and biliary variations are common, an adequate preoperative anatomic evaluation determines the best surgical technique, helps identify patients in whom additional surgical steps will be required, and reduces the risk of inadvertent injury. The surgeon must ensure that the future liver remnant is sufficient to maintain adequate function, aided by the radiologist who can provide valuable information such as the presence of steatosis, biliary dilatation, signs of cirrhosis, and portal hypertension, in addition to the volume of the future liver remnant. Postoperative complications must also be understood and evaluated. The most common postoperative complications are vascular (bleeding, thrombosis, and ischemia), biliary (fistulas, bilomas, and strictures), infectious (incisional or deep), those related to liver failure, and even tumor recurrence. An invited commentary by Winslow is available online. Online supplemental material is available for this article. ©RSNA, 2022.


Assuntos
Hepatectomia , Neoplasias Hepáticas , Hepatectomia/métodos , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , Recidiva Local de Neoplasia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/cirurgia
6.
Obes Res Clin Pract ; 15(3): 300-302, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33766489

RESUMO

We report the case of an obese woman with a large hepatocellular adenoma (HCA) of 8.0 cm in diameter, followed for 5 years after Roux-en-Y Gastric Bypass, with a complete radiologic remission of the liver mass. Four other cases have been published with HCA regression after bariatric surgery, but none with long-term follow-up. As the association between obesity and HCA has been increasingly described, bariatric surgery should be considered a therapeutic option for stage 2 obese patients.


Assuntos
Adenoma de Células Hepáticas , Cirurgia Bariátrica , Carcinoma Hepatocelular , Derivação Gástrica , Laparoscopia , Neoplasias Hepáticas , Obesidade Mórbida , Adenoma de Células Hepáticas/diagnóstico por imagem , Adenoma de Células Hepáticas/etiologia , Adenoma de Células Hepáticas/cirurgia , Feminino , Humanos , Neoplasias Hepáticas/diagnóstico por imagem , Neoplasias Hepáticas/cirurgia , Obesidade Mórbida/cirurgia , Resultado do Tratamento
7.
Arq Gastroenterol ; 57(suppl 1): 1-20, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32294682

RESUMO

Hepatocellular carcinoma (HCC) is one of the leading causes of cancer-related mortality worldwide. The Brazilian Society of Hepatology (SBH) published in 2015 its first recommendations about the management of HCC. Since then, new data have emerged in the literature, prompting the governing board of SBH to sponsor a single-topic meeting in August 2018 in São Paulo. All the invited experts were asked to make a systematic review of the literature reviewing the management of HCC in subjects with cirrhosis. After the meeting, all panelists gathered together for the discussion of the topics and the elaboration of updated recommendations. The text was subsequently submitted for suggestions and approval of all members of the Brazilian Society of Hepatology through its homepage. The present manuscript is the final version of the reviewed manuscript containing the recommendations of SBH.


Assuntos
Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/terapia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/terapia , Brasil/epidemiologia , Carcinoma Hepatocelular/epidemiologia , Carcinoma Hepatocelular/patologia , Medicina Baseada em Evidências , Humanos , Neoplasias Hepáticas/epidemiologia , Neoplasias Hepáticas/patologia , Inoculação de Neoplasia , Ensaios Clínicos Controlados Aleatórios como Assunto , Sociedades Médicas , Revisões Sistemáticas como Assunto
9.
Radiol Case Rep ; 12(4): 697-700, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29484052

RESUMO

Multiple lymphomatous polyposis is an uncommon type of primary non-Hodgkin's lymphoma, characterized by multiple lymphomatous polyps along the gastrointestinal tract. We present 2 cases of diffuse gastrointestinal involvement and illustrate radiological and pathologic findings.

10.
Arq Bras Cir Dig ; 29(1): 9-13, 2016 Mar.
Artigo em Inglês, Português | MEDLINE | ID: mdl-27120731

RESUMO

BACKGROUND: Liver metastases of colorectal cancer are frequent and potentially fatal event in the evolution of patients. AIM: In the second module of this consensus, management of resectable liver metastases was discussed. METHOD: Concept of synchronous and metachronous metastases was determined, and both scenarius were discussed separately according its prognostic and therapeutic peculiarities. RESULTS: Special attention was given to the missing metastases due to systemic preoperative treatment response, with emphasis in strategies to avoid its reccurrence and how to manage disappeared lesions. CONCLUSION: Were presented validated ressectional strategies, to be taken into account in clinical practice.


Assuntos
Neoplasias Colorretais/patologia , Neoplasias Hepáticas/secundário , Neoplasias Hepáticas/cirurgia , Brasil , Terapia Combinada , Humanos
11.
ABCD (São Paulo, Impr.) ; 29(1): 9-13, Jan.-Mar. 2016.
Artigo em Inglês | LILACS | ID: lil-780014

RESUMO

Background : Liver metastases of colorectal cancer are frequent and potentially fatal event in the evolution of patients. Aim : In the second module of this consensus, management of resectable liver metastases was discussed. Method : Concept of synchronous and metachronous metastases was determined, and both scenarius were discussed separately according its prognostic and therapeutic peculiarities. Results : Special attention was given to the missing metastases due to systemic preoperative treatment response, with emphasis in strategies to avoid its reccurrence and how to manage disappeared lesions. Conclusion : Were presented validated ressectional strategies, to be taken into account in clinical practice.


Racional: As metástases hepáticas de câncer colorretal são evento frequente e potencialmente fatal na evolução dos pacientes. Objetivo : No segundo módulo desse consenso, foi discutido o manejo de metástases hepáticas ressecáveis. Método : Foi definido o conceito de metástases síncrônicas e metacrônicas, e ambos os cenários foram discutidos separadamente de acordo com as suas peculiaridades prognósticas e terapêuticas. Resultados : Foi dada especial atenção às missing metástases em resposta ao tratamento pré-operatório sistêmico, com ênfase em estratégias para evitar sua recorrência e como gerenciar as lesões desaparecidas. Conclusão : Foram apresentadas e validadas estratégias de ressecção em várias circunstâncias, para serem aplicadas na prática clínica.


Assuntos
Humanos , Neoplasias Colorretais/patologia , Neoplasias Hepáticas/cirurgia , Neoplasias Hepáticas/secundário , Brasil , Terapia Combinada
12.
Radiol Bras ; 48(4): 249-59, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26379324

RESUMO

Magnetic resonance imaging is a method with high contrast resolution widely used in the assessment of pelvic gynecological diseases. However, the potential of such method to diagnose vaginal lesions is still underestimated, probably due to the scarce literature approaching the theme, the poor familiarity of radiologists with vaginal diseases, some of them relatively rare, and to the many peculiarities involved in the assessment of the vagina. Thus, the authors illustrate the role of magnetic resonance imaging in the evaluation of vaginal diseases and the main relevant findings to be considered in the clinical decision making process.


A ressonância magnética é um método com alta resolução de contraste e por isso muito utilizada na avaliação de doenças ginecológicas pélvicas. No entanto, seu potencial para diagnóstico de lesões vaginais ainda é subestimado, provavelmente em razão da escassa literatura referente ao tema, da pouca familiaridade dos radiologistas com doenças vaginais, algumas delas relativamente raras, e das muitas peculiaridades em um exame para avaliação desta víscera oca. Desta forma, ilustraremos neste estudo o papel da ressonância magnética na avaliação das doenças vaginais e os principais achados relevantes para a conduta clínica.

13.
Radiol. bras ; 48(4): 249-259, July-Aug. 2015. ilus
Artigo em Inglês | LILACS | ID: lil-759410

RESUMO

AbstractMagnetic resonance imaging is a method with high contrast resolution widely used in the assessment of pelvic gynecological diseases. However, the potential of such method to diagnose vaginal lesions is still underestimated, probably due to the scarce literature approaching the theme, the poor familiarity of radiologists with vaginal diseases, some of them relatively rare, and to the many peculiarities involved in the assessment of the vagina. Thus, the authors illustrate the role of magnetic resonance imaging in the evaluation of vaginal diseases and the main relevant findings to be considered in the clinical decision making process.


ResumoA ressonância magnética é um método com alta resolução de contraste e por isso muito utilizada na avaliação de doenças ginecológicas pélvicas. No entanto, seu potencial para diagnóstico de lesões vaginais ainda é subestimado, provavelmente em razão da escassa literatura referente ao tema, da pouca familiaridade dos radiologistas com doenças vaginais, algumas delas relativamente raras, e das muitas peculiaridades em um exame para avaliação desta víscera oca. Desta forma, ilustraremos neste estudo o papel da ressonância magnética na avaliação das doenças vaginais e os principais achados relevantes para a conduta clínica.

14.
Clinics (Sao Paulo) ; 70(3): 207-13, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26017653

RESUMO

OBJECTIVES: Fibrolamellar hepatocellular carcinoma is a rare primary malignant liver tumor that differs from conventional hepatocellular carcinoma in several aspects. The aim of this study was to describe the clinical, surgical and histopathological features of fibrolamellar hepatocellular carcinoma and to analyze the factors associated with survival. METHODS: We identified 21 patients with histopathologically diagnosed fibrolamellar hepatocellular carcinoma over a 22-year period. Clinical information was collected from medical records and biopsies, and surgical specimens were reviewed. RESULTS: The median age at diagnosis was 20 years. Most patients were female (67%) and did not have associated chronic liver disease. Most patients had a single nodule, and the median tumor size was 120 mm. Vascular invasion was present in 31% of patients, and extra-hepatic metastases were present in 53%. Fourteen patients underwent surgery as the first-line therapy, three received chemotherapy, and four received palliative care. Eighteen patients had "pure fibrolamellar hepatocellular carcinoma," whereas three had a distinct area of conventional hepatocellular carcinoma and were classified as having "mixed fibrolamellar hepatocellular carcinoma." The median overall survival was 36 months. The presence of "mixed fibrolamellar hepatocellular carcinoma" and macrovascular invasion were predictors of poor survival. Vascular invasion was associated with an increased risk of recurrence in patients who underwent surgery. CONCLUSION: Fibrolamellar hepatocellular carcinoma was more common in young female patients without chronic liver disease. Surgery was the first therapeutic option to achieve disease control, even in advanced cases. Vascular invasion was a risk factor for tumor recurrence. The presence of macrovascular invasion and areas of conventional hepatocellular carcinoma were directly related to poor survival.


Assuntos
Carcinoma Hepatocelular/patologia , Neoplasias Hepáticas/patologia , Adolescente , Adulto , Fatores Etários , Biópsia , Carcinoma Hepatocelular/mortalidade , Carcinoma Hepatocelular/cirurgia , Intervalo Livre de Doença , Feminino , Humanos , Neoplasias Hepáticas/mortalidade , Neoplasias Hepáticas/cirurgia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/patologia , Estadiamento de Neoplasias , Fatores de Risco , Fatores Sexuais , Taxa de Sobrevida , Fatores de Tempo , Tomografia Computadorizada por Raios X , Carga Tumoral , Adulto Jovem
15.
Clinics ; 70(3): 207-213, 03/2015. tab, graf
Artigo em Inglês | LILACS | ID: lil-747108

RESUMO

OBJECTIVES: Fibrolamellar hepatocellular carcinoma is a rare primary malignant liver tumor that differs from conventional hepatocellular carcinoma in several aspects. The aim of this study was to describe the clinical, surgical and histopathological features of fibrolamellar hepatocellular carcinoma and to analyze the factors associated with survival. METHODS: We identified 21 patients with histopathologically diagnosed fibrolamellar hepatocellular carcinoma over a 22-year period. Clinical information was collected from medical records and biopsies, and surgical specimens were reviewed. RESULTS: The median age at diagnosis was 20 years. Most patients were female (67%) and did not have associated chronic liver disease. Most patients had a single nodule, and the median tumor size was 120 mm. Vascular invasion was present in 31% of patients, and extra-hepatic metastases were present in 53%. Fourteen patients underwent surgery as the first-line therapy, three received chemotherapy, and four received palliative care. Eighteen patients had “pure fibrolamellar hepatocellular carcinoma,” whereas three had a distinct area of conventional hepatocellular carcinoma and were classified as having “mixed fibrolamellar hepatocellular carcinoma.” The median overall survival was 36 months. The presence of “mixed fibrolamellar hepatocellular carcinoma” and macrovascular invasion were predictors of poor survival. Vascular invasion was associated with an increased risk of recurrence in patients who underwent surgery. CONCLUSION: Fibrolamellar hepatocellular carcinoma was more common in young female patients without chronic liver disease. Surgery was the first therapeutic option to achieve disease control, even in advanced cases. Vascular invasion was a risk factor for tumor recurrence. The presence of macrovascular invasion and areas of conventional hepatocellular carcinoma were directly related to poor survival. .


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Neoplasias da Mama/classificação , Neoplasias da Mama/etnologia , População Negra/estatística & dados numéricos , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Análise por Conglomerados , Estudos de Coortes , População Branca/estatística & dados numéricos , Expressão Gênica , Hispânico ou Latino/estatística & dados numéricos , /biossíntese , /genética , Biomarcadores Tumorais/biossíntese , Biomarcadores Tumorais/genética
16.
J Clin Transl Hepatol ; 3(4): 260-4, 2015 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-26807381

RESUMO

BACKGROUND AND AIMS: Schistosomiasis is a major chronic disease of humans in endemic regions, and infected individuals may develop a spectrum of pathology, including hepatic fibrosis, hepatosplenomegaly, and portal hypertension. Hepatocellular carcinoma (HCC) is considered the fifth most common cancer in the world, and there is limited and controversial evidence suggesting that Schistosoma mansoni infection may be a possible risk factor for HCC. The aim of this study was to report a case series of patients with HCC and S. mansoni infection and to conduct a literature review on the topic. METHODS: From January 2002 to January 2015, an institutional database was screened retrospectively to identify patients with HCC and S. mansoni infection at a single center in the Department of Gastroenterology of University of São Paulo School of Medicine and Hospital das Clínicas, Brazil. RESULTS: Seven cases were included. The mean age of patients was 62.1±10.3 years; six (85.7%) were male and one (14.3%) was female. All cases had positive epidemiology, coming from endemic areas of S. mansoni infection in Brazil, and four (57.1%) had previous complications (upper gastrointestinal bleeding) related to portal hypertension or surgery intervention (splenectomy) performed more than 10 years before the HCC diagnosis. Nontumoral portal vein thrombosis was identified in five (71.4%) patients. All patients had negative serology for HCV, and four (57.1%) had positivity of HBVcore antibodies without evidence of viral replication. According to BCLC staging, one (14.3%) patient was BCLC A and received TACE instead of RFA because HCC size was >30 mm; three (42.8%) BCLC B patients received sorafenib instead of local regional treatment due to the presence of nontumoral TPV. During follow-up, all patients developed tumoral progression and died. CONCLUSIONS: It remains unclear if S. mansoni infection alone has carcinogenic potential. The available literature indicates that S. Mansoni, in the presence of HBV and HCV infections, likely acts as a cofactor for the hepatic lesion and potentiates injury.

17.
Radiol. bras ; 47(3): 165-175, May-Jun/2014. graf
Artigo em Português | LILACS | ID: lil-713635

RESUMO

A pancreatite aguda é uma condição inflamatória causada por ativação intracelular e extravasamento inapropriado de enzimas proteolíticas que determinam destruição do parênquima pancreático e dos tecidos peripancreáticos. Consiste em uma condição clínica bastante frequente, identificando-se duas formas principais de apresentação: a forma edematosa, menos intensa, e a forma necrosante, a forma grave da doença que acomete uma proporção significativa dos pacientes. A avaliação radiológica, sobretudo por tomografia computadorizada, tem papel fundamental na definição da conduta nos casos graves, sobretudo no que diz respeito à caracterização das complicações locais, que têm implicação prognóstica, e na determinação do tipo de abordagem terapêutica. Novos conceitos incluem a subdivisão da pancreatite necrosante nas formas de necrose do parênquima pancreático concomitante com necrose dos tecidos peripancreáticos ou necrose restrita aos tecidos peripancreáticos. Além disso, houve sistematização dos termos: acúmulos líquidos agudos peripancreáticos, pseudocisto, alterações pós-necróticas pancreáticas/peripancreáticas e necrose pancreática delimitada. Tal conhecimento é de extrema relevância no sentido de uniformizar a linguagem entre os especialistas envolvidos no diagnóstico e tratamento desses pacientes.


Acute pancreatitis is an inflammatory condition caused by intracellular activation and extravasation of inappropriate proteolytic enzymes determining destruction of pancreatic parenchyma and peripancreatic tissues. This is a fairly common clinical condition with two main presentations, namely, endematous pancreatitis - a less severe presentation -, and necrotizing pancreatitis - the most severe presentation that affects a significant part of patients. The radiological evaluation, particularly by computed tomography, plays a fundamental role in the definition of the management of severe cases, especially regarding the characterization of local complications with implications in the prognosis and in the definition of the therapeutic approach. New concepts include the subdivision of necrotizing pancreatitis into the following presentations: pancreatic parenchymal necrosis with concomitant peripancreatic tissue necrosis, and necrosis restricted to peripancreatic tissues. Moreover, there was a systematization of the terms acute peripancreatic fluid collection, pseudocyst, post-necrotic pancreatic/peripancreatic fluid collections and walled-off pancreatic necrosis. The knowledge about such terms is extremely relevant to standardize the terminology utilized by specialists involved in the diagnosis and treatment of these patients.

19.
J Clin Endocrinol Metab ; 99(8): E1501-9, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24708098

RESUMO

CONTEXT: Primary macronodular adrenal hyperplasia (PMAH) is a rare cause of Cushing's syndrome, usually characterized by functioning adrenal macronodules and increased cortisol production. Familial clustering of PMAH has been described, suggesting an inherited genetic cause for this condition. OBJECTIVE: The aim of the present study was to identify the gene responsible for familial PMAH. PATIENTS AND METHODS: Forty-seven individuals of a Brazilian family with PMAH were evaluated. A single-nucleotide polymorphism-based genome-wide linkage analysis followed by whole-exome sequencing were then performed in selected family members. Additionally, 29 other patients with PMAH and 125 randomly selected healthy individuals were studied to validate the genetic findings. Moreover, PMAH tissue was also analyzed through whole-exome sequencing, conventional sequencing, and microsatellite analysis. RESULTS: A heterozygous germline variant in the ARMC5 gene (p.Leu365Pro) was identified by whole-exome sequencing in a candidate genomic region (16p11.2). Subsequently, the same variant was confirmed by conventional sequencing in all 16 affected family members. The variant was predicted to be damaging by in silico methods and was not found in available online databases or in the 125 selected healthy individuals. Seven additional ARMC5 variants were subsequently identified in 5 of 21 patients with apparently sporadic PMAH and in 2 of 3 families with the disease. Further molecular analysis identified a somatic mutational event in 4 patients whose adrenal tissue was available. CONCLUSIONS: Inherited autosomal dominant mutations in the ARMC5 gene are a frequent cause of PMAH. Biallelic inactivation of ARMC5 is consistent with its role as a potential tumor suppressor gene.


Assuntos
Síndrome de Cushing/genética , Predisposição Genética para Doença , Mutação de Sentido Incorreto , Proteínas Supressoras de Tumor/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Proteínas do Domínio Armadillo , Brasil , Síndrome de Cushing/epidemiologia , Feminino , Frequência do Gene , Ligação Genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
20.
Radiol Bras ; 47(3): 165-75, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25741074

RESUMO

Acute pancreatitis is an inflammatory condition caused by intracellular activation and extravasation of inappropriate proteolytic enzymes determining destruction of pancreatic parenchyma and peripancreatic tissues. This is a fairly common clinical condition with two main presentations, namely, endematous pancreatitis - a less severe presentation -, and necrotizing pancreatitis - the most severe presentation that affects a significant part of patients. The radiological evaluation, particularly by computed tomography, plays a fundamental role in the definition of the management of severe cases, especially regarding the characterization of local complications with implications in the prognosis and in the definition of the therapeutic approach. New concepts include the subdivision of necrotizing pancreatitis into the following presentations: pancreatic parenchymal necrosis with concomitant peripancreatic tissue necrosis, and necrosis restricted to peripancreatic tissues. Moreover, there was a systematization of the terms acute peripancreatic fluid collection, pseudocyst, post-necrotic pancreatic/peripancreatic fluid collections and walled-off pancreatic necrosis. The knowledge about such terms is extremely relevant to standardize the terminology utilized by specialists involved in the diagnosis and treatment of these patients.


A pancreatite aguda é uma condição inflamatória causada por ativação intracelular e extravasamento inapropriado de enzimas proteolíticas que determinam destruição do parênquima pancreático e dos tecidos peripancreáticos. Consiste em uma condição clínica bastante frequente, identificando-se duas formas principais de apresentação: a forma edematosa, menos intensa, e a forma necrosante, a forma grave da doença que acomete uma proporção significativa dos pacientes. A avaliação radiológica, sobretudo por tomografia computadorizada, tem papel fundamental na definição da conduta nos casos graves, sobretudo no que diz respeito à caracterização das complicações locais, que têm implicação prognóstica, e na determinação do tipo de abordagem terapêutica. Novos conceitos incluem a subdivisão da pancreatite necrosante nas formas de necrose do parênquima pancreático concomitante com necrose dos tecidos peripancreáticos ou necrose restrita aos tecidos peripancreáticos. Além disso, houve sistematização dos termos: acúmulos líquidos agudos peripancreáticos, pseudocisto, alterações pós-necróticas pancreáticas/peripancreáticas e necrose pancreática delimitada. Tal conhecimento é de extrema relevância no sentido de uniformizar a linguagem entre os especialistas envolvidos no diagnóstico e tratamento desses pacientes.

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