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Prader-Willi syndrome (PWS) is a neurobehavioral disorder characterized mainly by neonatal hypotonia, dysmorphic features, hypogonadism, mental retardation and behavioral problems. The PWS has not been associated with renal complications. We report the case of an infant with Prader-Willi syndrome due to loss of the paternal copy of chromosome 15q11.2-13, who presented with severe proteinuria and microscopic hematuria. Renal biopsy revealed mesangioproliferative glomerulonephritis (MPGN). The early onset of the primary MPGN in this infant make us consider a possible association between the deficiency of the paternally expressed genes from the 15q11-q13 region and the renal disease.
RESUMO
INTRODUCTION: Thyroid nodules are a common diagnostic challenge mainly because of the need to exclude thyroid malignancy. The aim of this study was to evaluate the usefulness of demographic, ultrasonographic and scintigraphic findings in differentiating benign from malignant thyroid lesions in patients presenting with thyroid nodules. MATERIALS AND METHODS: 941 patients, who presented with palpable thyroid nodules and underwent at least one fine-needle aspiration biopsy (FNAB), were retrospectively evaluated. RESULTS: The thyroid was assessed by ultrasonography (US) in 796 patients and by scintigraphy (SC) in 774 patients. The final diagnostic outcome was established after surgery (n=183) or after a minimum of one-year clinical follow-up period. Higher rates of malignancy were observed in male gender (p<0.001), in patients presenting with a solitary nodule in US (p<0.001), in nodules with maximum diameter > or =4.5 cm in US (p=0.024) and in nodules detectable by SC (p=0.006). There were no statistical differences in the rates of malignancy among cystic, solid or mixed nodules in US or among "hot", "warm" or "cold" nodules in SC. CONCLUSIONS: Male gender, solitary nodule and nodule diameter > or =4.5 cm can serve as adjuncts to FNAB in predicting the risk of thyroid malignancy in patients presenting with thyroid nodules.
Assuntos
Neoplasias da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Adulto , Idoso , Biópsia por Agulha Fina , Demografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Cintilografia , Estudos Retrospectivos , Fatores de Risco , Caracteres Sexuais , Neoplasias da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/epidemiologia , Nódulo da Glândula Tireoide/cirurgia , Ultrassonografia , Adulto JovemRESUMO
INTRODUCTION: Fine Needle Aspiration Biopsy (FNA) is a method widely used in the assessment of thyroid nodules. The main aim of this 18-year retrospective study was the investigation of the diagnostic value of FNA cytology in thyroid malignancy. SUBJECTS AND METHODS: We retrospectively reviewed 1376 patients who underwent 1938 FNAs from 1987 to 2004 in the Department of Endocrinology, "Hippokration" General Hospital, Thessaloniki, Greece. Of them 178 subsequently underwent total or subtotal thyroid resection and a pathology report was available. RESULTS: FNA cytology shows a sensitivity of 76.2% and a specificity of 90.5% for thyroid malignancy, with a significant agreement between FNA cytology and the histology following resection surgery (Cohen's method, p<0.05). There was a considerable improvement in the diagnostic value of FNA cytology during the sub-period 1996-2004 as compared to the sub-period 1987-1995. CONCLUSIONS: 1) FNA is a reliable diagnostic method in the assessment of thyroid malignancy, 2) a non-diagnostic FNA should always be repeated, 3) meticulous follow-up is mandatory, even after a cytological result of benign hyperplasia and 4) increased experience can improve the diagnostic value of FNA in thyroid malignancy.
Assuntos
Biópsia por Agulha Fina/estatística & dados numéricos , Glândula Tireoide/citologia , Humanos , Hipertireoidismo/patologia , Valores de Referência , Estudos Retrospectivos , Sensibilidade e Especificidade , Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/patologia , Tireoidite/patologiaRESUMO
The prenatal diagnosis of two subsequent pregnancies of the mother of a patient homozygous for a mutation in the L-2-hydroxyglutarate dehydrogenase gene is described. In the first pregnancy, measurement of L-2-hydroxyglutaric acid in amniotic fluid revealed an affected fetus. This pregnancy was terminated. In the prenatal diagnosis of the second pregnancy, mutational analysis was also included and proved to be of pivotal importance. Despite mildly increased levels of L-2-hydroxyglutaric acid in the amniotic fluid, the fetus was heterozygous for this mutation thus excluding L-2-HGA.
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Análise Mutacional de DNA , Glutaratos/urina , Aborto Induzido , Amniocentese , Encéfalo/patologia , Feminino , Humanos , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-NatalRESUMO
Sclerosing stromal tumors (SSTs) are uncommon ovarian neoplasms of the sex cord-stromal category, that usually occur below 30 years of age. In the present study three cases of SSTs, diagnosed during the last eight years in our hospital, were examined immunohistochemically with stains for estrogen receptors, alpha and beta, progesterone receptors, and stains for markers that have been reported to be of use in the diagnosis of sex cord-stromal tumors. They were also examined by fluoresence in situ hybridization (FISH) for the presence of trisomy 12 and 7. Positivity for ERbeta was observed in a significantly larger number of cells than ERalpha. Positivity for calretinin and A103 was observed in tumor cells. In two cases 20-30% of the nuclei showed trisomy 12. No aberration of chromosome 7 was detected. The finding of increased ERbeta expression needs further investigation.
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Neoplasias Ovarianas/diagnóstico , Tumores do Estroma Gonadal e dos Cordões Sexuais/diagnóstico , Adolescente , Adulto , Cromossomos Humanos Par 12 , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Receptores de Estrogênio , Receptores de Progesterona , Tumores do Estroma Gonadal e dos Cordões Sexuais/genética , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Trissomia/diagnóstico , Trissomia/genéticaRESUMO
Chondrosarcoma of the uterus is an extremely rare type of pure heterologous uterine sarcoma. In the present report a case of myxoid chondrosarcoma that occurred in the uterine corpus of a 46-year-old woman is described together with a brief review of the cases of uterine chondrosarcoma previously reported in the literature.
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Condrossarcoma/patologia , Neoplasias Uterinas/patologia , Biópsia por Agulha , Condrossarcoma/cirurgia , Feminino , Seguimentos , Humanos , Histerectomia/métodos , Imuno-Histoquímica , Pessoa de Meia-Idade , Medição de Risco , Resultado do Tratamento , Neoplasias Uterinas/cirurgiaRESUMO
The aim of this study was to enhance our understanding of the pathways of lymphatic spread of primary carcinomas in the upper abdomen by recognizing the development, configuration, and frequency of nodal enlargement in discrete anatomic regions. The study included 417 patients with histologically confirmed carcinomas (CC) of the stomach (n = 267), liver (n = 98), gallbladder (n = 25), and bile ducts (n = 27). All patients were studied by high-resolution CT and tumor extension to the lymph nodes of the subperitoneal space was clearly identified in 59 patients [33 with CC of the stomach, 8 with CC of the gallbladder, 3 with CC of the bile ducts, and 15 with hepatocellular carcinoma (HCC)]. In 47 of 59 patients this extension was confirmed by surgery or aspiration biopsy. Three discrete anatomic groups of lymph nodes were recognized producing a relatively distinct CT configuration when involved: (a) the hepatoduodenal seen in 49 patients; (b) the peripancreatic demonstrated in 33 patients; and (c) the aortocaval recognized in 16 patients. These groups of lymph nodes can be seen individually involved or in combination. Recognition of involvement of these nodes is important for correct diagnosis and staging of upper abdominal malignancies. The development of this involvement follows the natural flow of lymph via the lesser omentum to the retroperitoneal space.
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Neoplasias do Sistema Digestório/diagnóstico por imagem , Metástase Linfática/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Idoso , Neoplasias do Sistema Digestório/patologia , Feminino , Humanos , Linfonodos/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Radiografia Abdominal , Estudos RetrospectivosRESUMO
A patient with renal amyloidosis secondary to Crohn's disease is reported. The results of colchicine therapy after 3 1/2 years of treatment were so good that we review relevant data from the literature.
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Amiloidose/etiologia , Colchicina/uso terapêutico , Doença de Crohn/complicações , Nefropatias/etiologia , Adulto , Amiloidose/tratamento farmacológico , Amiloidose/patologia , Doença de Crohn/patologia , Humanos , Nefropatias/tratamento farmacológico , Nefropatias/patologia , MasculinoAssuntos
Injúria Renal Aguda/tratamento farmacológico , Injúria Renal Aguda/etiologia , Aminoácido Oxirredutases/antagonistas & inibidores , Choque Séptico/complicações , Injúria Renal Aguda/fisiopatologia , Animais , Arginina/análogos & derivados , Arginina/farmacologia , Pressão Sanguínea/efeitos dos fármacos , Modelos Animais de Doenças , Cães , Hemodinâmica/efeitos dos fármacos , Rim/patologia , Lipopolissacarídeos/toxicidade , Fígado/patologia , Óxido Nítrico Sintase , Choque Séptico/patologia , Choque Séptico/fisiopatologia , ômega-N-MetilargininaRESUMO
Mononuclear inflammatory cells were retrospectively analysed using monoclonal antibodies in the interstitium and glomeruli of 16 renal biopsy specimens from patients with nephrotic syndrome due to idiopathic membranous nephropathy (IMN). The aim of the study was to determine the composition of the infiltrate and to assess the ability to predict the response of proteinuria to corticosteroids. All patients had received prednisolone as a sole treatment. Nine patients had shown a complete or partial remission of proteinuria (group A) and seven did not respond at all (group B). Both groups were matched for age and degree of proteinuria; also both groups had normal renal function at the time of biopsy. Very few intraglomerular leukocytes, mostly monocytes/macrophages (MM) were found. The majority of interstitial T cell population and B cells were a minor component. No significant differences were found between the two groups regarding the types of the intraglomerular cells. However, interstitial T-cells, CD4+ve T helper/inducer cells, CD8+ve T cytotoxic/suppressor cells and MM were significantly higher in group A than in group B. Also HLA-DR expressing interstitial cells were much in excess in group A. In addition patients with complete remission of proteinuria had higher numbers of interstitial cells compared to those with partial response. There was no correlation between the numbers of types of intraglomerular and interstitial cells and the degree of proteinuria at presentation. Also no association was found between intraglomerular or interstitial cell population and subsequent relapse of proteinuria. In conclusion, interstitial but not intraglomerular mononuclear cells seem to determine the initial response of proteinuria to corticosteroids in patients with IMN.
Assuntos
Glomerulonefrite Membranosa/tratamento farmacológico , Glomérulos Renais/patologia , Prednisolona/uso terapêutico , Proteinúria/tratamento farmacológico , Adulto , Idoso , Anticorpos Monoclonais , Biópsia , Linfócitos T CD4-Positivos/imunologia , Feminino , Glomerulonefrite Membranosa/complicações , Glomerulonefrite Membranosa/fisiopatologia , Humanos , Imunofenotipagem , Inflamação/etiologia , Inflamação/patologia , Glomérulos Renais/imunologia , Leucócitos Mononucleares/imunologia , Masculino , Pessoa de Meia-Idade , Proteinúria/etiologia , Proteinúria/fisiopatologia , Estudos RetrospectivosRESUMO
Thirty-six patients with idiopathic membranous nephropathy were retrospectively studied. The mean age was 47 years and the male to female ratio 25 to 11. Twenty-eight patients (77.8%) had nephrotic syndrome at first investigation. Nineteen patients received corticosteroids alone (group A) and 17 received corticosteroids combined with cyclophosphamide (group B). The mean period of follow-up was 58.9 months (range, 12 to 156 months). The two groups did not differ in clinical or laboratory features at the time of biopsy or at the start of treatment. In the entire series a complete remission of proteinuria occurred in 13 of 36 patients (36.1%) and a partial remission occurred in 13 (36.1%); 10 patients (27.8%) had no response. Optimal remission of proteinuria was usually recorded 6 to 12 months after the start of treatment. The two groups showed no statistical differences regarding the rate of complete (seven v six patients; P = not significant) or partial (six v seven patients; P = not significant) remissions. Two patients (one from each group) entered end stage renal failure during follow-up. At last assessment, the number of patients with complete remission (four v three patients; P = not significant), nonnephrotic proteinuria (nine v nine patients; P = not significant), or nephrotic syndrome (five v four patients; P = not significant) was similar in both groups. In addition, final plasma creatinine did not differ significantly between the two groups (1.8 +/- 2.3 mg/dL v 2.6 +/- 2.6 mg/dL; P = not significant).(ABSTRACT TRUNCATED AT 250 WORDS)
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Ciclofosfamida/uso terapêutico , Glomerulonefrite Membranosa/tratamento farmacológico , Prednisolona/uso terapêutico , Adulto , Creatinina/sangue , Quimioterapia Combinada , Feminino , Seguimentos , Glomerulonefrite Membranosa/sangue , Glomerulonefrite Membranosa/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome Nefrótica/tratamento farmacológico , Síndrome Nefrótica/etiologia , Prednisolona/efeitos adversos , Prednisolona/sangue , Proteinúria/tratamento farmacológico , Proteinúria/etiologia , Recidiva , Indução de Remissão , Estudos Retrospectivos , Resultado do TratamentoRESUMO
Parathyroid carcinoma is a rare tumor responsible for 0.5-5% of primary hyperparathyroidism. It is usually small (not more than 27 g) and the precise diagnosis of malignancy is made when local or distant metastases are found. We describe a case of a 37 yr old male presenting with a substernal goiter and no specific symptoms except hypertension. This mass had cysts and calcifications and it was in the anterior upper mediastinum. The patient had severe hypercalcemia (Ca greater than 14 mg/dl), high PTH levels and mild renal failure. Bone scanning showed signs of hyperparathyroidism. The patient was subjected to total thyroidectomy and removal of the mass en block. The tumor was circumscribed lobulated and mostly cystic. It weighed 1,200 g (380 g after evacuation of cysts) and measured 12 x 9 x 4.5 cm. Histologic examination showed a highly differentiated adenocarcinoma of parathyroid with metastasis in a regional lymph node. Almost 4 years later the patient is alive and well without hypercalcemia and without evidence of distant metastases.
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Adenocarcinoma/diagnóstico , Carcinoma Papilar/diagnóstico , Bócio/diagnóstico , Neoplasias das Paratireoides/diagnóstico , Adenocarcinoma/complicações , Adenocarcinoma/patologia , Adulto , Carcinoma Papilar/complicações , Carcinoma Papilar/patologia , Diagnóstico Diferencial , Bócio/patologia , Humanos , Hipercalcemia/complicações , Hiperparatireoidismo/complicações , Masculino , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/patologiaRESUMO
The differentiation between cyclosporine nephrotoxicity (CyN) and acute rejection (AR) still remains a matter of intensive research. In a retrospective study over the last 2 years, we assessed the clinical and histopathological data of 43 episodes of renal dysfunction in 39 renal transplant recipients immunosuppressed with cyclosporine (CyA). Ten episodes (23.2%) were identified as AR and 10 (23.2%) as acute CyN; in six cases (13.9%), signs of both AR and CyN were found. Fever (80%), oliguria (50%), and edema (50%) were prominent features in AR, but not in CyN. Renal blood flow was higher in the nephrotoxicity group and for corresponding degree of renal dysfunction. Significant hyperuricemia (greater than 8 mg/dL) was a prominent finding in CyN (80%) and to a lesser extent in AR (20%). The helper to suppressor cell ratio in the peripheral blood remained stable or slightly decreased in all cases with CyN, but increased in 70% of the cases with AR. CyN was associated with significantly higher whole blood CyA levels (P less than 0.005) and there was a positive correlation between plasma creatinine and CyA levels during the nephrotoxicity episodes (P less than 0.02). Diffuse mononuclear cell infiltrate was observed in 90% of the biopsies with AR and only in 20% with CyN (P less than 0.005). Concerning the extent of the tubular lesions, no significant differences were observed between the two groups. In contrast, vascular lesions such as arterial endothelial proliferation (P less than 0.05), hyalinosis (P less than 0.05), and glomerular capillary thrombi (P less than 0.05) were more commonly seen in nephrotoxicity biopsies.(ABSTRACT TRUNCATED AT 250 WORDS)
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Ciclosporinas/efeitos adversos , Rejeição de Enxerto , Transplante de Rim , Rim/efeitos dos fármacos , Doença Aguda , Adolescente , Adulto , Biópsia por Agulha , Criança , Creatinina/sangue , Ciclosporinas/sangue , Diagnóstico Diferencial , Humanos , Rim/patologia , Glomérulos Renais/patologia , Túbulos Renais/patologia , Pessoa de Meia-Idade , Circulação Renal/efeitos dos fármacos , Estudos RetrospectivosRESUMO
Between 1982 and 1984, fine needle aspiration biopsy cytology (ABC) was performed in 1100 patients (aged 14-80, 993 women), with nodular goitre, who had either a solitary cold nodule or dominant hypofunctioning nodule(s) within a multinodular or diffusely enlarged gland. Surgery was performed in 213 patients based on clinical and cytological criteria, and the histology of the surgical specimens was correlated with the cytological findings. ABC specimens were sufficient for cytological diagnosis in 190 patients and were classified as malignant (positive), suspicious or benign. In 37 patients who had a final histological diagnosis of malignancy, cytology was positive or suspicious in 33 and benign in 4. In the remaining 153 patients with benign histology there were 7 positive or suspicious aspirates, and 146 benign. The 37 malignancies included papillary carcinomas in 26 patients (24 positive or suspicious and 2 benign on cytology), Hürthle-cell tumours in 6 (6 positive), follicular carcinoma in 1 (negative), anaplastic carcinoma in 1 (suspicious), medullary carcinoma in 2 (1 positive, 1 negative), and lymphoma in 1 (positive). Our results indicate that the overall sensitivity rate of the ABC method for cancer was 89.2 per cent, the diagnostic specificity 95.4 per cent, the false-positive rate 17.5 per cent and the false negative rate 2.6 per cent. The overall accuracy of the method was 94.2 per cent. It is concluded that papillary and Hürthle-cell carcinomas can be diagnosed accurately with ABC but we recommend that the method be used in conjunction with clinical information and other conventional diagnostic procedures.