RESUMO
Transmissible spongiform encephalopathies (TSEs) are characterised by accumulation of an abnormal isoform of prion protein (PrP(sc)), mainly in the brain but also in various peripheral tissues. Home-made assays consisting of non-standardised protocols are used currently for laboratory diagnosis of human TSE. The purpose of the present study was to test the ability of two commercial assays, TeSeE™ CJD ELISA and TeSeE™ Western blot, to detect PrPsc in cerebral and lymphoid tissues of TSE patients. Both tests detected a PrPsc-significant signal in the brains of 54 affected patients and not in 51 controls, yielding 100% specificity and 100% sensitivity. Furthermore, three post-mortem spleens and two pre-mortem tonsils from three patients with variant Creutzfeldt-Jakob disease (vCJD) were detected correctly. The expected PrPsc molecular patterns were found in TSE patient brain tissue and in the tonsils and spleens of the three vCJD patients. In conclusion, these rapid and robust in vitro tools were suitable for routine human TSE diagnosis and characterisation. CJD could also be diagnosed during the patient's lifetime by detection of PrPsc in the tonsil. A diagnostic strategy associating TeSeE™ CJD ELISA screening to biochemical confirmation by TeSeE™ Western blot is proposed.
Assuntos
Técnicas de Laboratório Clínico/métodos , Programas de Rastreamento/métodos , Doenças Priônicas/diagnóstico , Western Blotting/métodos , Encéfalo/patologia , Ensaio de Imunoadsorção Enzimática/métodos , Humanos , Tonsila Palatina/patologia , Estudos Retrospectivos , Sensibilidade e Especificidade , Baço/patologiaRESUMO
BACKGROUND: Frontotemporal dementia associated with motor neuron disease (FTD-MND) is a rare neurodegenerative disorder that may be inherited by autosomal dominant trait. No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3). METHODS: Ten French families with FTD-MND were tested for linkage to the 9p21.3-p13.3 region. We report extensive mutation screening in 9p-linked families and their clinical characteristics. RESULTS: We identified six new families with evidence for linkage to the chromosome 9p. Cumulative multipoint LOD score values were positive between markers D9S1121 and D9S301, reaching a peak of 8.0 at marker D9S248. Haplotype reconstruction defined the telomeric boundary at marker AFM218xg11, slightly narrowing the candidate interval. We found no disease-causing mutations by sequencing 29 candidate genes including IFT74 and no copy number variations in the 9p region. The mean age at onset was 57.9 +/- 10.3 years (range, 41-84), with wide heterogeneity within and among families suggesting age-dependant penetrance. The patients presented isolated FTD (32%), isolated MND (29%), or both disorders (39%). The general characteristics of the disease did not differ, except for an older age at onset and shorter disease duration in the 9p-linked compared to nonlinked families. TDP-43-positive neuronal cytoplasmic inclusions were found in cortex and spinal cord in 3 patients. CONCLUSIONS: This study increases the number of 9p-linked families now reported and shows that this locus may have a major effect on frontotemporal dementia (FTD) and motor neuron disease (MND). Considering our results, the causative gene might be implicated in at least 60% of the families with FTD-MND disorder.
Assuntos
Cromossomos Humanos Par 9/genética , Demência/genética , Ligação Genética/genética , Predisposição Genética para Doença/genética , Doença dos Neurônios Motores/genética , Mutação/genética , Adulto , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Mapeamento Cromossômico , Análise Mutacional de DNA , Demência/complicações , Feminino , Marcadores Genéticos/genética , Testes Genéticos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Doença dos Neurônios Motores/complicações , Linhagem , Penetrância , Adulto JovemAssuntos
Precursor de Proteína beta-Amiloide/genética , Angiopatia Amiloide Cerebral/genética , Saúde da Família , Duplicação Gênica , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Precursor de Proteína beta-Amiloide/metabolismo , Angiopatia Amiloide Cerebral/fisiopatologia , Humanos , Proteínas de Filamentos Intermediários/metabolismo , Doença por Corpos de Lewy/genética , Doença por Corpos de Lewy/patologia , Masculino , Pessoa de Meia-Idade , Proteínas do Tecido Nervoso/metabolismo , Testes Neuropsicológicos , Fenótipo , Proteínas tau/metabolismoRESUMO
OBJECTIVES: Retrorectal tumors are uncommon. This is a report on a series of vestigial retrorectal cystic tumors in adults that were surgically removed at two medical centers in France. We also assessed the significance of imaging and, in particular, magnetic resonance imaging (MRI) in the management of these lesions. METHODS: The medical files of adult patients operated on for vestigial retrorectal cystic tumors over the past 15 years were retrospectively studied and, in particular, the radiological studies, the treatment and the histopathology. RESULTS: Thirty patients underwent surgery for vestigial retrorectal cystic tumor. A preoperative diagnosis was possible in almost all cases. The surgical procedure was justified by preoperative imaging and included the transanal approach (three cases), posterior approach (23 cases), anterior approach (two cases) and combined posterior and anterior approach (two cases). Imaging can identify a multilobular lesion that may require the use of a coccygeal approach to achieve complete resection. During a mean follow-up of 3.2 years (range 0.5-15 years), two patients had a local recurrence (successfully surgically removed), and a further two patients were lost to follow-up. Only one lesion was malignant. CONCLUSIONS: Preoperative imaging, and especially magnetic resonance imaging, enables both a specific diagnosis and the selection of the optimal surgical procedure for the treatment of vestigial retrorectal cystic tumors in adults.
Assuntos
Neoplasias Retais , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/diagnóstico , Neoplasias Retais/terapia , Estudos Retrospectivos , Adulto JovemRESUMO
CMV reactivation is frequently observed in acute flares of ulcerative colitis (UC), particularly those which do not respond to intravenous steroids. Several recent series have suggested that, in most cases, CMV reactivation does not lead to severe complications and resolves spontaneously with the UC flare and discontinuation of immunosuppression. In the present paper, we describe two patients with active UC who developed a severe systemic CMV infection during a treatment with an oral microemulsion form of cyclosporine. This is of concern, particularly in a context of increasing use of immunosuppressive drugs in UC. We propose a prophylactic and curative approach to decrease morbidity related to CMV infection in active UC.
Assuntos
Colite Ulcerativa/tratamento farmacológico , Ciclosporina/efeitos adversos , Imunossupressores/efeitos adversos , Administração Oral , Adulto , Ciclosporina/administração & dosagem , Infecções por Citomegalovirus , Emulsões , Feminino , Humanos , Imunossupressores/administração & dosagem , Índice de Gravidade de DoençaAssuntos
Neoplasias de Cabeça e Pescoço/diagnóstico , Osso Parietal/patologia , Sarcoma Alveolar de Partes Moles/diagnóstico , Couro Cabeludo/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cranianas/diagnóstico , Adulto , Biópsia , Neoplasias Encefálicas/secundário , Humanos , Imageamento por Ressonância Magnética , Masculino , Neoplasias Musculares/secundário , Sarcoma Alveolar de Partes Moles/secundário , Neoplasias da Coluna Vertebral/secundário , Tomografia Computadorizada por Raios XRESUMO
Abdominal actinomycosis is an unusual peritoneal disease due to actinomyces, which are Gram-positive bacillus bacteria. Those saprophytes pathogens of digestive tract and genital mucous, can appear accidentally in the peritoneum cavity, in tumor form, simulating a neoplasic disease. We report the case of a 43-year old woman, with abdominal actinomycosis, revealed by feverish bowel obstruction. During laparotomy, several nodes were removed. Their histologic study permitted the diagnosis. Long-term antibiotics treatment allowed patient recovery.
Assuntos
Actinomicose/diagnóstico , Carcinoma/diagnóstico , Neoplasias Peritoneais/diagnóstico , Actinomicose/complicações , Adulto , Antibacterianos/uso terapêutico , Carcinoma/patologia , Diagnóstico Diferencial , Erros de Diagnóstico , Feminino , Humanos , Obstrução Intestinal/etiologia , Neoplasias Peritoneais/patologia , Resultado do TratamentoRESUMO
Intrathyroidal parathyroid adenoma is an infrequent lesion which can be explained by abnormalities during embryonic migration of the parathyroid glands. That abnormality can be a cause of failed cervical exploration for primary hyperparathyroidism. From a case report and literature data, we propose an exploration processes to search those ectopic parathyroid adenoma.
Assuntos
Adenoma/diagnóstico , Coristoma/patologia , Neoplasias das Paratireoides/diagnóstico , Glândula Tireoide , Adenoma/patologia , Feminino , Humanos , Hiperparatireoidismo/etiologia , Pessoa de Meia-Idade , Neoplasias das Paratireoides/patologiaRESUMO
Rathke's cleft cyst (RCC) are frequent benign cystic sellar lesions. Most RCC are small, intrasellar and asymptomatic. Larger cysts may compress adjacent structures and rarely become symptomatic. Diagnosis is strongly suggested at MRI by the presence of a midline non-enhancing lesion located exactly between the anterior and posterior lobes of the pituitary gland. Even if its signal is variable and related to intracystic protein concentration, it must be homogeneous with no fluid-fluid level. Once a diagnosis of RCC made, routine MR and clinical follow-up is sufficient for incidental asymptomatic cysts whereas the rare symptomatic lesions are neurosurgically resected.
Assuntos
Cistos do Sistema Nervoso Central/diagnóstico , Imageamento por Ressonância Magnética , Cistos do Sistema Nervoso Central/embriologia , Cistos do Sistema Nervoso Central/epidemiologia , Cistos do Sistema Nervoso Central/cirurgia , HumanosRESUMO
Gastrointestinal stromal tumours (Gist) are mesenchymal tumour with uncertain prognosis occurring in the gastrointestinal tract wall. For clinicians, these tumours raise two problems: to establish the diagnosis and to determinate the future behaviour for the choice officient therapeutics. For the diagnosis the new marker c-KIT is useful. A new treatment with an inhibitor of c-KIT has given encouraging results. currently there is no consensus on specific cut-points to distinguish as low or high risk (i.e., malignant) Gist. For metastases-free Gist, the prominent histopronostic markers are size, mitotic index and localization of the tumour. The small intestine Gist have the reputation to be more aggressive than in other localization. Skenoid fibers in small intestine Gist could be a marker of good prognostic. The authors reported three cases of small intestine Gist with skenoid fibers. The discussion point out the significance of this particular morphological aspect.
Assuntos
Biomarcadores Tumorais/análise , Neoplasias Intestinais/patologia , Intestino Delgado/patologia , Proteínas Proto-Oncogênicas c-kit/análise , Células Estromais/patologia , Adulto , Feminino , Humanos , Neoplasias Intestinais/cirurgia , Intestino Delgado/cirurgia , Masculino , Pessoa de Meia-Idade , PrognósticoRESUMO
We report a case of a renin secreting tumor, which is a very rare cause of secondary high blood pressure. A 22-year-old woman was hospitalised for exploration of high blood pressure (160/110 mmHg) with severe hypokaliemia (2,7 mmol/l) and secondary hyperaldosteronism. Physical examination was normal except the high blood pressure. Bioassays show increased kaliuresis (66 mmol/24h), plasma renin (89 pg/ml in clinostastism--108 pg/ml in orthostatism), pro-renin (1207 pg/ml in clinostastism--1412 pg/ml in orthostatism) and aldosterone (210 pg/ml in clinostastism--566 pg/ml in orthostatism). The rest of the endocrine tests were normal (cortisol and ACTH at 8:00 am, urinary free cortisol, overnight 1 mg dexamethasone suppression test). Doppler ultrasound method, performed by an experienced radiologist, did not show renal artery stenosis. Abdominal computerized tomography showed a nodular formation at the upper pole of the right kidney, isodense to renal medullary. The size tumor was 15 mm. The renal vein sampling shows high values of renin on both sides whereas, for the pro-renin, the values were higher on the tumor side. In spite of treatment with CEI (Converting Enzyme Inhibitors) and calcium antagonists, the blood pressure was not controlled. Hypokaliemia persisted (3 mmol/l) in spite of high daily potassium intake (64 mmol/l of potassium chloride). After tumor resection, reninoma was diagnosed by the pathology examination and blood pressure, plasma rennin, plasma aldosterone level returned to normal.
Assuntos
Hipertensão/etiologia , Neoplasias Renais/metabolismo , Renina/metabolismo , Adulto , Aldosterona/sangue , Precursores Enzimáticos/sangue , Humanos , Hipopotassemia/etiologia , Neoplasias Renais/diagnóstico , Neoplasias Renais/cirurgia , Veias Renais , Renina/sangue , Tomografia Computadorizada por Raios XRESUMO
Solid Cell Nests (SCN) of the thyroid gland were considered as embryonic remnants or as squamous metaplasia of follicular epithelium. In a retrospective study of 1 390 thyroids, SCN were found in 9.7 % of thyroids (16 % men and 8 % women, chi(2) : p <0, 01). The number of SCN rises with increasing number of sections examined. No statistical differences were found with age or thyroid disorders and presence of SCN, excluding the metaplastic theory. SCN contained in 38 % of cases, neuroendocrine cells (calcitonin and/or calcitonin gene related peptide, chromogranin A) and thyroglobulin cells was observed in 78.3 % of SCN. The different cell types of SCN fitted with the ultimobranchial remnant theory. Thus, some rare carcinomas (like mixed medullary and vesicular carcinoma or mucoepidermoid carcinoma) might originate from SCN.
Assuntos
Doenças da Glândula Tireoide/patologia , Glândula Tireoide/patologia , Adenoma/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcitonina/análise , Peptídeo Relacionado com Gene de Calcitonina/análise , Carcinoma/patologia , Criança , Pré-Escolar , Cromogranina A , Cromograninas/análise , Feminino , Humanos , Hiperplasia , Hipertireoidismo/patologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tireoglobulina/análise , Glândula Tireoide/química , Neoplasias da Glândula Tireoide/patologia , Tireoidite/patologiaRESUMO
The ultrastructural features of solid cell nests (SCN), made of squamous cells, and associated calcitonin cells (C cells), of the thyroid gland were studied in only a few cases in humans. A study was performed on 8 paraffin-embedded SCN, postembedded in Epon, to look for their ultrastructural features. Immunohistochemical analysis using calcitonin antibody was performed on semithin sections of SCN to explore the presence of C cells. Three cases (37.5%) of SCN were positive for calcitonin, and electron-dense secretory granules were observed in the cytoplasm. In two of these cases, an increased number of C cells in the adjacent thyroid parenchyma was observed. The presence of ciliated and lymphoid cells, in addition to intracytoplasmic microvacuolar and microfollicular (microglandular) structures, was noticed. Ciliated cells have already been reported in embryonic rests of human and animals, but ultrastructurally for the first time in human SCN. The presence of microfollicular structures, intracytoplasmic microvacuolar, secretory granules features, and ciliated cells, in addition to lymphoid cell, suggests the existence of a common ultimobranchial stem cell for C cells or for one or more cell types of the thyroid gland.
Assuntos
Glândula Tireoide/ultraestrutura , Idoso , Idoso de 80 Anos ou mais , Animais , Calcitonina/análise , Cílios/ultraestrutura , Grânulos Citoplasmáticos/ultraestrutura , Feminino , Humanos , Hiperplasia , Técnicas Imunoenzimáticas , Masculino , Microscopia Eletrônica , Pessoa de Meia-Idade , Células-Tronco/citologia , Células-Tronco/metabolismo , Glândula Tireoide/química , Corpo Ultimobranquial/citologia , Corpo Ultimobranquial/metabolismoRESUMO
We report two cases of leptomeningeal metastatic dissemination to the spinal cord of a grade B oligodendroglioma. Diagnosis was suspected on MRI but imaging findings were nonspecific. The pathways by which the intramedullary part of the spinal is reached by metastatic cells remains controversial. In the reported cases, both frontal and cystic primary intracerebral lesions were observed. Chemotherapy after radiotherapy appears to improve outcome. Nevertheless, prognosis remains very poor.
Assuntos
Neoplasias Encefálicas/patologia , Lobo Frontal , Oligodendroglioma/secundário , Neoplasias da Medula Espinal/secundário , Doenças do Nervo Abducente/etiologia , Antineoplásicos Alquilantes/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias Encefálicas/complicações , Neoplasias Encefálicas/tratamento farmacológico , Neoplasias Encefálicas/cirurgia , Carboplatina/administração & dosagem , Carmustina/uso terapêutico , Quimioterapia Adjuvante , Criança , Terapia Combinada , Etoposídeo/administração & dosagem , Evolução Fatal , Feminino , Humanos , Hipertensão Intracraniana/etiologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Invasividade Neoplásica , Oligodendroglioma/complicações , Oligodendroglioma/diagnóstico por imagem , Oligodendroglioma/tratamento farmacológico , Oligodendroglioma/radioterapia , Oligodendroglioma/cirurgia , Paralisia/etiologia , Prognóstico , Radiografia , Radioterapia Adjuvante , Neoplasias da Medula Espinal/diagnóstico por imagem , Neoplasias da Medula Espinal/tratamento farmacológico , Neoplasias da Medula Espinal/radioterapia , Neoplasias da Medula Espinal/cirurgiaRESUMO
Thirty-eight patients (25 women, 13 men; mean age, 57.8 [32 to 91]) showing one or more medullary thyroid microcarcinomas (ie, < 1 cm), with no prior MEN II or medullary thyroid carcinoma history in their family, were reviewed. Follow-up was available for 29 patients (mean, 53.6 months [1 to 147]). 21 patients (72.4%) are alive and free of disease, four patients (13.8%) died during follow-up without disease, 2 patients are alive with disease (local recurrence and persistent hypercalcitoninemia) after 80 and 99 months, respectively, and 2 patients died of disease after 24 and 46 months. Most tumors were incidental pathological findings (19 of 38) or were discovered by systematic blood calcitonin measurement for a nodular thyroid disease (15 of 38). Only the four patients who had an unfavorable outcome were symptomatic cases (palpable micro-MTC, diarrhea, cervical lymph node metastasis and pulmonary metastatic disease). The two patients with metastatic disease at diagnosis died during follow-up. In univariate analysis, a symptomatic medullary thyroid carcinoma was a strong predictor of an unfavourable outcome (p < .00008), as were the preoperative calcitonin level (P = .007) and an elevated postoperative calcitonin level (P = .004). Among 30 histopathological criteria, only the presence of amyloid correlated with an unfavorable outcome (P = .018).
Assuntos
Carcinoma Medular/patologia , Neoplasias da Glândula Tireoide/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Calcitonina/metabolismo , Carcinoma Medular/diagnóstico , Carcinoma Medular/metabolismo , Carcinoma Medular/mortalidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Taxa de Sobrevida , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/metabolismo , Neoplasias da Glândula Tireoide/mortalidadeRESUMO
The aim of this study was to compare 64 genetically determined pheochromocytomas (PH) (49 MEN IIa, 3 MEN IIb, 6 Von Recklinghausen diseases, 1 von Hippel-Lindau disease, 5 familial pheochromocytomas) and 48 sporadic PH. Genetically determined PH were more often observed among men and more frequently bilateral and multicentric than sporadic PH. Sporadic tumors had more often adrenal capsular invasion, necrosis and pseudocysts. Genetically determined PH were more differentiated with an insular pattern, hyaline globules and a higher percentage of polyhedric cells. Sporadic tumors were less differentiated with more frequently a diffuse pattern and small cells. Adrenal medullar hyperplasia was significantly associated with genetically determined PH. Adrenal cortical hyperplasia was not associated with a particular type of PH. The PS100 and chromogranin immunodetection was equivalent in both groups.
Assuntos
Neoplasias das Glândulas Suprarrenais/genética , Neoplasias das Glândulas Suprarrenais/patologia , Feocromocitoma/genética , Feocromocitoma/patologia , Córtex Suprarrenal/patologia , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Hiperplasia , Masculino , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2a/patologia , Neoplasia Endócrina Múltipla Tipo 2b/genética , Neoplasia Endócrina Múltipla Tipo 2b/patologia , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/patologiaRESUMO
Neuroendocrine tumors of the ampulla of Vater are rare (less than 100 cases reported). We report here a new case characterized by histamine secretion, a hitherto unreported feature. Clinical presentation is similar to that of other tumors of the ampulla of Vater. In our observation, the patient had noticed urticaria on the right forearm for several months. Tumor of the ampulla was confirmed by endoscopic ultrasonography, while neuroendocrine characterization was assessed on biopsies after endoscopic sphincterotomy. Histamine concentration in blood was the only elevated neuroendocrine marker and returned to normal after surgical resection. Histology showed a neuroendocrine tumor with extension to lymph nodes. On immunohistochemical analysis, production of histamine was confirmed, and the diagnosis of mastocytoma was eliminated. In view of the literature, neuroendocrine tumors of the ampulla of Vater are associated with a good prognosis (5 year-survival rate: 90%) despite early lymph node involvement.