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1.
Rev. ORL (Salamanca) ; 13(2): 97-109, junio 2022. ilus, tab
Artículo en Español | IBECS | ID: ibc-211133

RESUMEN

En marzo de 2021 se ha celebrado el 80 aniversario de la primera aplicación terapéutica del radioyodo (RAI) por Saúl Hertz a una paciente con hipertiroidismo el 31 de marzo de 1936. El éxito alcanzado impulsó su utilización en el tratamiento del carcinoma diferenciado de tiroides (CDT) y supuso un cambio de paradigma en el manejo de las enfermedades tiroideas. Desde entonces, han cambiado las estrategias de administración de RAI a pacientes con CDT y aún hoy día existen controversias. En esta revisión vamos a comentar las diferentes estrategias adoptadas en la administración de RAI a pacientes con CDT a lo largo de estas 8 décadas y cuáles son las controversias actuales en cuanto a qué pacientes con CDT hay que administrar RAI y qué actividad de RAI se debe administrar. (AU)


March 2021 has marked the eightieth anniversary of targeted radionuclide therapy, recognizing the first use of radioactive iodine (RAI) to treat thyroid disease by Dr. Saul Hertz on March 31, 1941. Success with hyperthyroidism fueled a seamless, almost intuitive transition to the use of RAI in thyroid carcinoma and marked the beginning of a new paradigm for thyroid cancer diagnosis and management. Since then, several therapeutic strategies have been adopted in the management of patients with differentiated thyroid cancer (DTC) and there are still controversies today regarding which patients with DTC should be administered RAI and what RAI activity should be administered, issues that will be commented in this review. (AU)


Asunto(s)
Humanos , Neoplasias de la Tiroides , Hipertiroidismo , Medicina , Terapéutica , Pacientes
2.
Acta Trop ; 227: 106295, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-34954257

RESUMEN

OBJECTIVES: Cystic echinococcosis is a zoonotic disease caused by the cestode Echinococcus granulosus. The activity of the cysts is assessed through the WHO-IWGE standardized classification based on ultrasound features. However, viability of the cysts is not always concordant with the activity assessed by ultrasound. The aim of the present study is to describe the metabolic activity of cysts in patients with cystic echinococcosis through FDG-PET. METHODS: Prospective observational study where adult patients diagnosed of cystic echinococcosis were offered to undergo FDG PET/CT before treatment onset. Demographic, clinical, radiological, and histopathological information was collected from all patients. RESULTS: Sixteen patients were included, 50% were male, and age ranged from 18 to 85 years. Most of the patients had liver involvement, and all patients had CE3, CE4 or CE5 stage of the WHO-IWGE classification. Only one patient (CE5) had an increased 18F-FDG uptake of the cyst in the FDG PET/CT. From the 5 patients who underwent surgical treatment, only one showed signs of viability of the cyst: a patient with CE5 with no increased 18F-FDG uptake of the cyst. CONCLUSION: In our pilot study, we did not find the correlation between the FDG PET/CT imaging and the cystic echinococcosis cyst bioactivity.


Asunto(s)
Equinococosis Hepática , Equinococosis , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Equinococosis/diagnóstico , Equinococosis Hepática/diagnóstico , Fluorodesoxiglucosa F18 , Humanos , Masculino , Persona de Mediana Edad , Proyectos Piloto , Tomografía Computarizada por Tomografía de Emisión de Positrones , Adulto Joven , Zoonosis
3.
Artículo en Inglés | MEDLINE | ID: mdl-34218882

RESUMEN

AIM: To evaluate 18F-FDG-PET/CT for suspected ovarian cancer relapse with negative/inconclusive conventional imaging, or restaging potentially resectable ovarian cancer relapse. MATERIAL AND METHODS: Thirty-six cases and 140 locations were studied. PET/CT, ceCT and serum CA-125 was conducted in all cases. Nineteen cases were requested for restaging, 17 for suspected relapse. We compared ceCT and PET/CT, assessed by histopathology or radiological follow-up, calculating sensitivity (S) and positive predictive value (PPV) by cases and lesions. We evaluated the correlation between size, number, uptake of the lesions and CA-125. We conducted survival analysis, using ROC curves to calculate the optimal cut-off of SUVmax for survival prediction. We checked whether PET/CT modify the therapeutic attitude vs. conventional imaging. RESULTS: PET/CT and ceCT were concordant in 12 cases: 11 positives (30 lesions), all confirmed. There was 1 FN. In the 24 non-concordant, PET/CT was positive in 19 (97 lesions); ceCT in 21 (59 lesions); 54% of the lesions were concordant. Overall, PET/CT detected 127 lesions, with S=97% and PPV=100%. ceCT detected 89 lesions, with S=61% and PPV=90%. No significant correlation was found between CA-125 and the other parameters. PET/CT detected 10 positive cases, with normal CA-125. PET/CT modified therapeutic management in 15 cases. Significant differences were found in survival with SUVmax=11.8 CONCLUSIONS: PET/CT plays an important role in ovarian cancer relapse, with sensitivity and PPV higher than ceCT, modified therapeutic management in up to 42% of cases, and could be a valuable tool for predicting survival.


Asunto(s)
Fluorodesoxiglucosa F18 , Recurrencia Local de Neoplasia/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos , Antígeno Ca-125/sangre , Medios de Contraste , Femenino , Humanos , Hallazgos Incidentales , Persona de Mediana Edad , Recurrencia Local de Neoplasia/sangre , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/terapia , Estadificación de Neoplasias , Neoplasias Ováricas/sangre , Neoplasias Ováricas/patología , Neoplasias Ováricas/terapia , Tomografía Computarizada por Tomografía de Emisión de Positrones/estadística & datos numéricos , Valor Predictivo de las Pruebas , Pronóstico , Curva ROC , Estudios Retrospectivos , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos X/métodos , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Carga Tumoral
4.
Rev. ORL (Salamanca) ; 11(3): 283-295, jul.-sept. 2020. ilus
Artículo en Español | IBECS | ID: ibc-197898

RESUMEN

INTRODUCCIÓN Y OBJETIVO: La Medicina Nuclear tiene un papel destacado en el estudio de la patología de tiroides y paratiroides. El objetivo de este trabajo es realizar una revisión de las técnicas de imagen disponibles actualmente en Medicina Nuclear, para el estudio de dicha patología. SÍNTESIS: La gammagrafía de tiroides sigue siendo una técnica útil en el estudio de la patología tiroidea, como, por ejemplo, en el nódulo tiroideo o el hipotiroidismo congénito. El SPECT-CT mejora el diagnóstico, frente al rastreo corporal total (RCT) con radioyodo, en pacientes con cáncer diferenciado de tiroides y cambia el manejo terapéutico, a la vez que, añadido a la gammagrafía de paratiroides, ayuda a la planificación de la cirugía, sobre todo en adenomas ectópicos. El PET-CT con 18F-FDG y con otros trazadores, tiene un papel relevante en varias indicaciones y tipos histológicos de cáncer de tiroides, aunque principalmente en la sospecha de recidiva. Así mismo, el PET-CT con fluorocolina es una alternativa excelente, con cifras elevadas de localización exitosa, en los casos de hiperparatiroidismo primario (HPTp) con pruebas convencionales negativas. CONCLUSIONES: Con los avances técnicos de los últimos años en el ámbito de la Medicina Nuclear y, particularmente, con la imagen híbrida, se ha mejorado el estudio de la patología tiroidea, fundamentalmente del cáncer de tiroides, así como la localización prequirúrgica del HPTp


INTRODUCTION AND OBJECTIVE: Nuclear Medicine has a relevant role in the study of thyroid and parathyroid gland pathology. The aim of this work is to review the imaging techniques available nowadays in Nuclear Medicine, to study this pathology. SYNTHESIS: Thyroid scinthigraphy is, even today, a useful tool in the study of thyroid pathology, such us in the thyroid nodule or in congenital hypothyroidism. SPECT-CT, compared to whole body scintigraphy (WBS) with radioiodine, improve the diagnosis and change the therapeutic management in patients with differentiated thyroid cancer, at the same time that, added to the parathyroid scintigraphy, it helps planning the surgery, especially in ectopic adenomas. PET-CT with FDG and other tracers has a relevant role in several indications and histology types of thyroid cancer, although mainly in the suspicion of recurrence. In addition, Fluorocholine PET-CT is an excellent alternative, with high successful localization rate, in cases with primary hyperparathyroidism (pHPT) and negative conventional techniques. CONCLUSIONS: With technical advances in the area of Nuclear Medicine, and particularly with hybrid imaging, the study of thyroid pathology has improved, especially in thyroid cancer, as well as pre-surgical localization of pHPT


Asunto(s)
Humanos , Enfermedades de la Tiroides/diagnóstico , Medicina Nuclear/métodos , Enfermedades de las Paratiroides/diagnóstico , Diagnóstico por Imagen/métodos , Nódulo Tiroideo/diagnóstico , Hipotiroidismo Congénito/diagnóstico , Cintigrafía , Tomografía Computarizada por Tomografía Computarizada de Emisión de Fotón Único/métodos , Fluorodesoxiglucosa F18
5.
Rev. ORL (Salamanca) ; 11(3): 297-304, jul.-sept. 2020. graf, ilus
Artículo en Español | IBECS | ID: ibc-197899

RESUMEN

INTRODUCCIÓN Y OBJETIVO: La PET/TC es una técnica cuyas indicaciones en Oncología se encuentran en expansión y el cáncer de tiroides es una de ellas. MÉTODO: Revisión narrativa. COMENTARIOS: En el presente artículo se revisan las indicaciones establecidas hasta la fecha, así como aquellos campos en los que son necesarias investigaciones adicionales que permitan establecer la utilidad de esta técnica en los distintos tipos de patología maligna tiroidea


INTRODUCTION AND OBJECTIVE: PET/CT is a technique which oncological indications are now increasing, being thyroid cancer one of them. METHOD: narrative review. COMMENT: The present study is a review of well-known indications, as well as those fields in which more studies are needed to establish the utility of this technique in every kind of malignant thyroid pathology


Asunto(s)
Humanos , Enfermedades de la Tiroides/diagnóstico por imagen , Glándula Tiroides/diagnóstico por imagen , Glándula Tiroides/patología , Tomografía Computarizada por Tomografía de Emisión de Positrones , Liposarcoma/diagnóstico por imagen , Carcinoma Medular/diagnóstico por imagen , Carcinoma Medular/patología , Carcinoma/diagnóstico por imagen , Carcinoma/patología
6.
Rev. ORL (Salamanca) ; 11(3): 305-327, jul.-sept. 2020. ilus
Artículo en Español | IBECS | ID: ibc-197900

RESUMEN

INTRODUCCIÓN Y OBJETIVO: El tratamiento de la patología con radioyodo (RAI) se viene realizando desde hace más de 7 décadas. Sin embargo, no existe consenso en cuanto a indicaciones, dosis y otros aspectos relacionados con el cuidado de los pacientes. La razón de ello es la ausencia de ensayos clínicos prospectivos bien diseñadospara resolver estos interrogantes en cuanto al tratamiento con 131I, a pesar de la alta prevalencia de las enfermedades tiroideas. El tratamiento con 131I está indicado en el tratamiento del hipertiroidismo, producido por la enfermedad de Graves, por el adenoma tóxico y por el bocio multinodular tóxico; del bocio multinodular no tóxico y del carcinoma diferenciado de tiroides (CDT). El objetivo del tratamiento con RAI en caso del hipertiroidismo y del bocio multinodular no tóxico es disminuir la función tiroidea o disminuir el volumen de la glándula tiroides. En el caso del CDT, los objetivos de la administración de RAI tras la cirugía son la ablación de los restos tiroideos, el tratamiento adyuvante de la enfermedad microscópica sospechada no confirmada y el tratamiento de la enfermedad persistente loco-regional o metastásica. A la espera de los resultados de ensayos clínicos actualmente en: marcha, el tratamiento con 131I está justificado no solo en los pacientes de alto riesgo, sino también en los pacientes de riesgo bajo (T > 1 cm) e intermedio


Introduction and ojective: Radioiodine (RAI) therapy of the thyroid diseases has been used for seven decades. However, there is no consensus regarding indications, doses, procedures, and other aspects related to the clinical care of the patients considered for 131I therapy. The reason for this is the lack of large well-designed prospective clinical trials resolving fundamental questions in relation to 131I therapy, despite the high prevalence of thyroid diseases. Radioiodine therapy is indicated for the treatment of hyperthyroidism (Graves'disease, toxic nodular goiter and toxic multinodular goiter), multinodular nontoxic goiter and differentiated thyroid carcinoma (DTC). In benign thyroid diseases, RAI is administered to decrease the thyroid function and/or reduction of the thyroid volume. In DTC, post-operative administration of RAI may includeremnant ablation to eliminate residual normal thyroid tissue after thyroidectomy, adjuvant therapy to destroy suspected, but unproven residual disease and RAI therapy to treat persistent disease in higher risk patients. Pending the results of the prospective clinical trials that are currently underway, the use of 131I seems to be justified not only in high-risk patients, but also in low-intermediate-risk patients


Asunto(s)
Humanos , Enfermedades de la Tiroides/terapia , Glándula Tiroides/efectos de los fármacos , Radioisótopos de Yodo/uso terapéutico , Hipertiroidismo/terapia , Radioisótopos de Yodo/metabolismo , Neoplasias de la Tiroides/terapia , Liposarcoma/terapia
7.
Clin Nucl Med ; 44(5): 397-398, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30789397

RESUMEN

Patient was a 52-year-old woman with medical history of lung adenocarcinoma operated in 2009 (stage I, T2 N0 M0), showing increasing levels of tumor markers and a doubtful retrocrural adenopathy by means of CT scan with intravenous contrast. An F-FDG PET/CT was performed, which showed 2 hypermetabolic foci in both annexes. The anatomopathological study detected bilateral ovarian adenocarcinoma compatible with metastases of pulmonary origin.


Asunto(s)
Adenocarcinoma del Pulmón/diagnóstico por imagen , Neoplasias Pulmonares/diagnóstico por imagen , Neoplasias Ováricas/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Adenocarcinoma del Pulmón/patología , Femenino , Fluorodesoxiglucosa F18 , Humanos , Neoplasias Pulmonares/patología , Persona de Mediana Edad , Neoplasias Ováricas/secundario , Radiofármacos
8.
Ann Nucl Med ; 32(8): 568-572, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30051167

RESUMEN

Large cell neuroendocrine carcinoma of the lung (LCNEC) is a high-grade, poorly differentiated tumor that typically does not express somatostatin receptors. Thus, it does not benefit from treatment with somatostatin analogs and peptide receptor radionuclide therapy (PRRT). The current study objective was to demonstrate that treatment with PRRT may be a valid option in neuroendocrine carcinomas with high expression of somatostatin receptors. This is a case report of a 58-year-old man who was diagnosed with LCNEC and received chemotherapy treatment with little benefit. Extensive hepatic and bone metastasis was detected on 111In-pentetreotide scintigraphy following high uptake of the radionuclide by the tumors. The patient benefitted from neuroendocrine treatment initially and from lutetium Lu 177 dotatate subsequently. A significant clinical and radiological response was observed, along with an improvement in quality of life. The use of PRRT is a valid alternative to chemotherapy in patients with LCNEC involving the expression of somatostin receptors.


Asunto(s)
Neoplasias Pulmonares/radioterapia , Tumores Neuroendocrinos/radioterapia , Octreótido/análogos & derivados , Compuestos Organometálicos/uso terapéutico , Humanos , Neoplasias Pulmonares/patología , Masculino , Persona de Mediana Edad , Clasificación del Tumor , Tumores Neuroendocrinos/patología , Octreótido/uso terapéutico , Calidad de Vida , Resultado del Tratamiento
9.
Arch. bronconeumol. (Ed. impr.) ; 51(3): e16-e18, mar. 2015. ilus
Artículo en Español | IBECS | ID: ibc-134226

RESUMEN

Los tumores carcinoides bronquiales son una causa infrecuente de neumonías de repetición en pacientes jóvenes. El diagnóstico se obtiene mediante pruebas de imagen, broncoscopia y confirmación histológica, y el tratamiento es fundamentalmente quirúrgico. Mediante la presentación de 2 casos, revisamos la utilidad de la gammagrafía con 111In-DTPA-Phe-octreotide (111In-pentetreotida) en la valoración de estos pacientes antes de la cirugía, apoyando el diagnóstico de tumor neuroendocrino ante una imagen sospechosa en otras pruebas (radiografía simple, TC) y descartando enfermedad regional o a distancia. Frente al reducido valor de la PET con 18F-FDG (realizada en uno de los casos), se destaca el papel de laSPECT-TC, que mejora notablemente la localización y la caracterización de los hallazgos


Bronchial carcinoid tumours are an uncommon cause of recurrent pneumonia in young patients. Diagnosis is determined from imaging studies, bronchoscopy, and histological confirmation, and treatment is generally surgical. Two cases are reviewed in order to examine the value of 111In-DTPA-Phe-octreotide (111In-pentetreotide) scintigraphy in the pre-surgical evaluation of these patients. After a suspicious area was observed in other tests (standard X-ray, CT), a neuroendocrine tumour was diagnosed using this technique and the presence of regional or distant disease was ruled out. Comparison with the less valuable 18F-FDG PET (carried out in one of the cases) highlights the usefulness of SPECT-CT, which performs notably better in terms of the localization and characterisation of findings


Asunto(s)
Humanos , Masculino , Femenino , Adulto Joven , Adolescente , Tumor Carcinoide/complicaciones , Neoplasias de los Bronquios/complicaciones , Neumonía/diagnóstico por imagen , Cintigrafía , Neumonía/etiología , Radioisótopos de Indio , Somatostatina/análogos & derivados , Diagnóstico por Imagen , Recurrencia
10.
Nucl Med Commun ; 36(3): 251-9, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25369750

RESUMEN

AIM: The aim of the study was to assess the contribution of 111In-pentetreotide single-photon emission computed tomography/computed tomography (SPECT/CT) imaging to conventional somatostatin receptor scintigraphy (SRS) in terms of lesion characterization and localization in the detection of neuroendocrine tumours (NETs). MATERIALS AND METHODS: A total of 107 patients with suspected or confirmed NET underwent SRS and SPECT/CT after the injection of 148-222 MBq of 111In-pentetreotide. SRS and SPECT/CT images were interpreted independently. Each site of abnormal tracer uptake was recorded according to the anatomical localization, and as being consistent or not with NET. The findings were confirmed with pathological and/or clinical/imaging follow-up data. RESULTS: A final diagnosis of NET was achieved in 49/107 patients (45.8%). No evidence of NET was found in the rest. SPECT/CT resulted in a significant reduction of indeterminate cases [14/107 (13.1%) vs. 1/107 (0.9%); P<0.001] and correctly reclassified one patient as negative for NET and another as positive for NET. SPECT/CT had 87.8% sensitivity and 96.6% specificity on a patient-based analysis, statistically higher than SRS (P<0.001). A total of 160 foci were detected (108 NETs and 52 physiological/benign tumours). SRS correctly classified 105/160 foci (65.6%) and remained inaccurate for 55 lesions. These 55 included 31 indeterminate lesions, 12 lesions detected only by SPECT/CT and 12 false-positive lesions. The number of foci correctly classified on the SPECT/CT images was 151/160 (94.4%), whereas two remained indeterminate and seven were false-positive findings. CONCLUSION: SPECT/CT provides incremental diagnostic value over SRS, mainly because of a precise anatomical localization that helps discriminate between tumour lesions and physiological uptake. SPECT/CT may detect unsuspected lesions in a small proportion of patients.


Asunto(s)
Tumores Neuroendocrinos/diagnóstico , Tumores Neuroendocrinos/metabolismo , Receptores de Somatostatina/metabolismo , Somatostatina/análogos & derivados , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Rayos X , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Imagen Multimodal , Tumores Neuroendocrinos/diagnóstico por imagen , Adulto Joven
11.
Arch Bronconeumol ; 51(3): e16-8, 2015 Mar.
Artículo en Inglés, Español | MEDLINE | ID: mdl-24576448

RESUMEN

Bronchial carcinoid tumours are an uncommon cause of recurrent pneumonia in young patients. Diagnosis is determined from imaging studies, bronchoscopy, and histological confirmation, and treatment is generally surgical. Two cases are reviewed in order to examine the value of (111)In-DTPA-Phe-octreotide ((111)In-pentetreotide) scintigraphy in the pre-surgical evaluation of these patients. After a suspicious area was observed in other tests (standard X-ray, CT), a neuroendocrine tumour was diagnosed using this technique and the presence of regional or distant disease was ruled out. Comparison with the less valuable (18)F-FDG PET (carried out in one of the cases) highlights the usefulness of SPECT-CT, which performs notably better in terms of the localization and characterisation of findings.


Asunto(s)
Neoplasias de los Bronquios/complicaciones , Tumor Carcinoide/complicaciones , Radioisótopos de Indio , Neumonía/diagnóstico por imagen , Neumonía/etiología , Somatostatina/análogos & derivados , Adolescente , Diagnóstico por Imagen , Femenino , Humanos , Masculino , Cintigrafía , Recurrencia , Adulto Joven
12.
Clin Nucl Med ; 39(11): 1009-11, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24999697

RESUMEN

A patient with primary hyperparathyroidism underwent radio-guided surgery by means of a γ-probe and a hand-held γ-camera. Before surgery, a parathyroid double-phase planar scintigraphy and an early SPECT/CT with 99mTc-MIBI were performed and suggested an ectopic parathyroid adenoma with early washout. The hand-held γ-camera was very useful for the localization of a parathyroid adenoma, which could not be found with the probe probably due to its faint uptake and to a high blood pool activity because it was localized next to the great vessels. Besides, it demonstrated the complete extirpation of the parathyroid tissue.


Asunto(s)
Adenoma/cirugía , Cámaras gamma , Neoplasias de las Paratiroides/cirugía , Cirugía Asistida por Computador/métodos , Tomografía Computarizada de Emisión de Fotón Único/instrumentación , Tomografía Computarizada por Rayos X , Adenoma/diagnóstico por imagen , Femenino , Humanos , Persona de Mediana Edad , Imagen Multimodal , Neoplasias de las Paratiroides/diagnóstico por imagen , Radiofármacos , Cirugía Asistida por Computador/instrumentación , Tecnecio Tc 99m Sestamibi
13.
Clin Nucl Med ; 38(10): 843-5, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23989444

RESUMEN

We present a 19-year-old woman with a neuroendocrine tumor of the appendix diagnosed during an acute appendicitis. An 111In-pentetreotide scan was performed to establish the extension of the disease. Scintigraphy showed an abnormal focal uptake in the right side of the pelvis. The SPECT/CT images demonstrated a round-shaped mass in the right ovary. Pathology revealed a benign cystic mature teratoma. In our case, hybrid imaging combining SPECT and CT contributed to localize the unusual 111In-pentetreotide accumulation within the anatomical context.


Asunto(s)
Neoplasias Ováricas/diagnóstico por imagen , Somatostatina/análogos & derivados , Teratoma/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único , Tomografía Computarizada por Rayos X , Femenino , Humanos , Imagen por Resonancia Magnética , Somatostatina/farmacocinética , Adulto Joven
14.
Med. clín (Ed. impr.) ; 140(10): 453-457, mayo 2013. tab, ilus
Artículo en Español | IBECS | ID: ibc-112451

RESUMEN

Fundamento y objetivo: Los avances en biología molecular han permitido el descubrimiento de nuevos genes implicados en el desarrollo del síndrome de paraganglioma familiar (PGL), entre ellos los que codifican para el complejo succinato deshidrogenasa mitocondrial (SDH). En el presente trabajo describimos el diagnóstico, expresividad clínica y consejo genético en una familia afectada de PGL por una mutación no descrita en SDHB.Pacientes y método: Se llevó a cabo el estudio genético mediante reacción en cadena de la polimerasa y secuenciación del gen SDHB y determinación bioquímica en sangre/orina de 24h de catecolaminas fraccionadas y metanefrinas, así como pruebas de imagen convencionales (tomografía computarizada y resonancia magnética) y funcionales (gammagrafía con 123I-MIBG) en todos los miembros de una familia con PGL. Resultado: La secuenciación del ADN demostró una mutación en heterocigosis no descrita en SDHB (c.287-3C>G intrón3/exón4) en 5 de los sujetos estudiados (71%). La penetrancia calculada de a mutación en los sujetos portadores fue del 40%, con una edad media de 35 años al diagnóstico. Todos los enfermos requirieron tratamiento quirúrgico tras la confirmación analítica y por imagen de la enfermedad activa. Conclusiones: Describimos la patogenicidad, algoritmo diagnóstico, consejo genético y expresividad clínica de una nueva mutación para SDHB (c.287-3C>G) en una familia con PGL (AU)


Background and objective: Advances in molecular biology have discovered new genes involved in the development of familial paraganglioma syndrome (PGL) including those encoding mitochondrial succinate dehydrogenase complex (SDH). We describe the diagnosis, clinical expression and genetic counselling in a family diagnosed of PGL due to a new SDHB mutation. Patients and method: Genetic study by PCR-direct sequencing SDHB gene and biochemical determination in blood/urine fractionated catecholamine 24h, metanephrines and conventional (computed tomography/magnetic resonance imaging) and functional imaging (123I-MIBG) in all members of a family diagnosed of PGL. Result: DNA sequencing showed a non-described SDHB heterozygous mutation (c.287-3C>G intron3/exon4) in 5 of the subjects (71%). The estimated penetrance of the mutation's carriers was 40%, with a mean age of 35 years at diagnosis. All patients with active illness required surgical treatment after imaging and laboratory confirmation. Conclusions: We describe he pathogenicity, diagnostic algorithm, genetic counselling and clinical expression of a new SDHB mutation (c.287-3C>G) in a family diagnosed of PGL (AU)


Asunto(s)
Humanos , Paraganglioma/genética , Síndromes Neoplásicos Hereditarios/genética , Feocromocitoma/genética , Predisposición Genética a la Enfermedad , Asesoramiento Genético , Expresión Génica/genética
15.
Med Clin (Barc) ; 140(10): 453-7, 2013 May 13.
Artículo en Español | MEDLINE | ID: mdl-23434467

RESUMEN

BACKGROUND AND OBJECTIVE: Advances in molecular biology have discovered new genes involved in the development of familial paraganglioma syndrome (PGL) including those encoding mitochondrial succinate dehydrogenase complex (SDH). We describe the diagnosis, clinical expression and genetic counselling in a family diagnosed of PGL due to a new SDHB mutation. PATIENTS AND METHOD: Genetic study by PCR-direct sequencing SDHB gene and biochemical determination in blood/urine fractionated catecholamine 24h, metanephrines and conventional (computed tomography/magnetic resonance imaging) and functional imaging ((123)I-MIBG) in all members of a family diagnosed of PGL. RESULT: DNA sequencing showed a non-described SDHB heterozygous mutation (c.287-3C>G intron3/exon4) in 5 of the subjects (71%). The estimated penetrance of the mutation's carriers was 40%, with a mean age of 35 years at diagnosis. All patients with active illness required surgical treatment after imaging and laboratory confirmation. CONCLUSIONS: We describe the pathogenicity, diagnostic algorithm, genetic counselling and clinical expression of a new SDHB mutation (c.287-3C>G) in a family diagnosed of PGL.


Asunto(s)
Mutación Missense , Síndromes Neoplásicos Hereditarios/genética , Paraganglioma/genética , Succinato Deshidrogenasa/genética , Adulto , Anciano de 80 o más Años , Catecolaminas/orina , Exones/genética , Femenino , Genotipo , Ácido Homovanílico/orina , Humanos , Hipertensión/etiología , Intrones/genética , Masculino , Persona de Mediana Edad , Síndromes Neoplásicos Hereditarios/enzimología , Síndromes Neoplásicos Hereditarios/orina , Paraganglioma/enzimología , Linaje , Penetrancia , Feocromocitoma/complicaciones , Feocromocitoma/diagnóstico por imagen , Feocromocitoma/enzimología , Feocromocitoma/genética , Feocromocitoma/cirugía , Feocromocitoma/orina , Neoplasias Retroperitoneales/complicaciones , Neoplasias Retroperitoneales/diagnóstico por imagen , Neoplasias Retroperitoneales/enzimología , Neoplasias Retroperitoneales/genética , Neoplasias Retroperitoneales/cirugía , Neoplasias Retroperitoneales/orina , Tomografía Computarizada de Emisión de Fotón Único , Ácido Vanilmandélico/orina , Adulto Joven
17.
Artículo en Inglés | MEDLINE | ID: mdl-22755532

RESUMEN

(131)I, commonly used in nuclear medicine, can be incorporated into the human body in a variety of chemical and physical forms. This study describes a sensitive method for the determination of (131)I concentration and its application to the estimation of the amount of airborne (131)I inhaled by staff workers of a Nuclear Medicine Department. Our method uses passive sampling with charcoal canisters followed by liquid scintillation counting, a very sensitive technique for the determination of low concentrations of airborne (131)I. We have studied the effects caused on the measured (131)I concentration in air by both, the doses administered to the patients and the distance of sampling canisters to the patient. We have found a direct relationship between the amount of (131)I activity administered and the airborne (131)I activity concentration. We have estimated the contribution of inhaled (131)I to the effective dose received by staff, finding differences between physicians and non-physician personnel. However, the measured exposure was quite low in both cases, thus suggesting that there is no need to introduce additional safety measures to the current ones.


Asunto(s)
Radioisótopos de Yodo/análisis , Medicina Nuclear , Exposición Profesional/análisis , Conteo por Cintilación/métodos , Femenino , Humanos , Masculino , Dosis de Radiación
19.
Nucl Med Commun ; 32(9): 847-52, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21760559

RESUMEN

AIM: To evaluate the efficacy of the γ probe, alone and in combination with other techniques, in primary hyperparathyroidism surgery, as well as its ability to distinguish between single-gland and multiple-gland diseases. MATERIALS AND METHODS: Sixty-three patients with primary hyperparathyroidism submitted to radioguided parathyroidectomy, with a minimum follow-up of 1 year, were included. A preoperatory scintigraphy with technetium-99m methoxyisobutylisonitrile was performed in all cases and the excised specimens were histopathologically examined. Intraoperative intact parathyroid hormone (ioPTHi) data were available for 59 patients. RESULTS: Sixty-three patients underwent radioguided parathyroidectomy: 30 minimally invasive radioguided parathyroidectomy, 18 unilateral, and 15 bilateral surgeries. A receiver operating characteristic curve analysis was carried out to distinguish between normal and pathological glands. Using a cut-off value of 1.15 for the γ-probe in-vivo index, we obtained 87% sensitivity, 95% specificity, and 97% positive predictive value (PPV). There were statistically significant differences among in-vivo indexes sorted by type of gland histology (Kruskall-Wallis; P=0.001). A receiver operating characteristic curve was again used to discriminate between single-gland and several-gland pathologies. For a cut-off of 1.51, we achieved 67% sensitivity, 87% specificity, and 95% PPV. CONCLUSION: Pathological glands can be detected by the γ probe (in-vivo index>1.15) with a PPV of 97%. Although an in-vivo index greater than 1.51 is suggestive of a solitary adenoma (PPV=95%), there are a significant number of cases (27%) with lower indexes, these would erroneously lead to an extended surgery in search of a multiglandulary disease. For this reason, the combined determination of the intraoperative intact parathyroid hormone is recommended to identify multiglandulary disease.


Asunto(s)
Hormona Paratiroidea/metabolismo , Paratiroidectomía/métodos , Conteo por Cintilación/métodos , Glándula Tiroides/metabolismo , Glándula Tiroides/cirugía , Femenino , Humanos , Periodo Intraoperatorio , Masculino , Persona de Mediana Edad , Cintigrafía , Estudios Retrospectivos , Glándula Tiroides/diagnóstico por imagen , Glándula Tiroides/patología
20.
Eur. j. anat ; 14(3): 133-141, dic. 2010. ilus, tab
Artículo en Inglés | IBECS | ID: ibc-107664

RESUMEN

The aim of this study was to check the degree of consistency and agreement between three methods for the estimation of body composition, fat mass and fat-free mass after their application to a group of young women. A transverse observation study was performed. Fifty-nine women aged between 18 and 28 years old were included. Each woman was subjected to three assessments of body composition: anthropometry, dual-energy x-ray absorptiometry and bio-impedance analysis. Pearson’s r coefficient and the Cronbach α were calculated. To check the degree of agreement, analysis of variance was implemented for repeated measurements and Bland and Altman plot was used. Differences were observed among the four assessment methodologies, the results of the General Durnin & Womersley Formula departing from those of the others, such that it was left out. In contrast, the consistency of the Specific Durnin & Womersley Formula was better in fat mass. Regarding the level of agreement between pairs of methods, a homogenous pattern was observed, with low bias, although broad 95% agreement limits were observed. These results indicate that different methods of body composition assessment provide different estimations in a sample of healthy young women. Dual-energy x-ray absorptiometry and anthropometry (Specific Durnin & Womersley Formula) have high levels of consistency, with low bias ranges (AU)


No disponible


Asunto(s)
Humanos , Tejido Adiposo/anatomía & histología , Antropometría/métodos , Composición Corporal , Impedancia Eléctrica , Grosor de los Pliegues Cutáneos , Densitometría/métodos
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