Study of the prevalence of familial autoimmune myasthenia gravis in a Spanish cohort.

BACKGROUND: Myasthenia gravis (MG) is an autoimmune disease caused by a failure of neuromuscular transmission. Familial clustering has been reported despiteMG usually manifesting as a sporadic condition presumed not to be inherited. Our study investigated the prevalence of FAMG in a Spanish cohort, characterizing their phenotype,antibody titres and thymus findings. MATERIAL/METHODS: We investigated the presence of familial cases in 462 MG patients, characterizing by age and MGFA class at debut, quantitative MG score, antibody titres, MGFA post-intervention status and thymus pathology. RESULTS: Sixteen cases from8 unrelated pedigrees were identified. The prevalence of FAMG caseswas 3.46%.Mean age at onset was 57.8 ± 17.4 years (range=23­82). Distribution at debut was: 6 ocular, 4 IIa, 4IIb, 1 IIIa and 1 IIIb. Thymoma was identified in two of the 7 thymectomized individuals. CONCLUSIONS: The prevalence of FAMG in Spain is similar to other populations. Post-intervention status did not differ from sporadic autoimmune MG. As in other neuromuscular disorders, phenotype and inheritance heterogeneity are present in FAMG. In addition to the interfamilial heterogeneity observed, members of the same family affected with FAMG may even present different ages of onset, severity and thymus involvement. Further studies are necessary to clarify the role of genetic risk factors in this form of autoimmune MG.

Pancreatic endocrine tumors or apudomas.

INTRODUCTION AND OBJECTIVE: pancreatic endocrine tumors (PET) are difficult to diagnose. Their accurate localization using imaging techniques is intended to provide a definite cure. The goal of this retrospective study was to review a PET series from a private institution. PATIENTS AND METHODS: the medical records of 19 patients with PETs were reviewed, including 4 cases of MEN-1, for a period of 17 years (1994-2010). A database was set up with ten parameters: age, sex, symptoms, imaging techniques, size and location in the pancreas, metastasis, surgery, complications, adjuvant therapies, definite diagnosis, and survival or death. RESULTS: a total of 19 cases were analyzed. Mean age at presentation was 51 years (range: 26-67 y) (14 males, 5 females), and tumor size was 5 to 80 mm (X: 20 mm). Metastatic disease was present in 37% (7/19). Most underwent the following imaging techniques: ultrasounds, computed tomography (CT) an magnetic resonance imaging (MRI). Fine needle aspiration punction (FNA) was performed for the primary tumor in 4 cases. Non-functioning: 7 cases (37%), insulinoma: 2 cases [1 with possible multiple endocrine neoplasia (MEN)], Zollinger-Ellison syndrome (ZES) from gastrinoma: 5 (3 with MEN-1), glucagonoma: 2 cases, 2 somatostatinomas; carcinoid: 1 case with carcinoide-like syndrome. Most patients were operated upon: 14/19 (73%). Four (4/14:28%) has postoperative complications following pancreatectomy: pancreatitis, pseudocyst, and abdominal collections. Some patients received chemotherapy (4), somatostatin (3) and interferon (2) before or after surgery. Median follow-up was 48 months. Actuarial survival during the study was 73.6% (14/19). CONCLUSIONS: age was similar to that described in the literature. Males were predominant. Most cases were non-functioning (37%). Most patients underwent surgery (73%) with little morbidity (28%) and an actuarial survival of 73.6% at the time of the study.

Tumores endocrinos o apudomas pancreáticos / Pancreatic endocrine tumors or apudomas

Introducción y objetivo: los tumores endocrinos pancreáticos (TEP) son difíciles de diagnosticar. Su localización exacta mediante métodos de imagen tiene el propósito de lograr una curación definitiva. El objetivo de este trabajo retrospectivo fue revisar una serie institucional privada de TEP. Pacientes y métodos: se revisaron las historias clínicas de 19 pacientes con TEP, 4 casos con NEM-1, observados durante 17 años (1994-2010). Se creó una base de datos con diez parámetros: edad y sexo, síntomas, métodos diagnósticos de imagen, tamaño y situación en el páncreas, metástasis, cirugía, complicaciones, tratamientos complementarios, diagnóstico definitivo, supervivencia o éxitus. Resultados: en total se analizaron 19 casos. La edad media de presentación fue 51 años (intervalo: 26-67 años) (14 varones y 5 mujeres), con un tamaño del tumor de 5 a 80 mm (X: 20 mm). El 37% (7/19) tenían metástasis. En la mayoría se practicaron los siguientes métodos de imagen: ecografía, TAC y RM. La PAAF del tumor primitivo se practicó en 4 casos. No funcionantes: 7 casos (37%), insulinomas: 2 casos (1 con posible NEM), SZE por gastrinomas: 5 (3 con NEM-1), glucagonoma: 2 casos, 2 somatostatinomas, carcinoide: 1 caso con síndrome carcinoide-like. La mayoría de los enfermos fueron intervenidos quirúrgicamente 14/19 (73%). En cuatro (4/14: 28%) pacientes hubo complicaciones postoperatorias después de pancreatectomías: páncreas, seudoquiste y colecciones abdominales. Algunos casos fueron tratados con quimioterapia (4), somatostatina (3) e interferón (2) antes o después de la cirugía. La mediana de seguimiento fue de 48 meses. La supervivencia actuarial en el momento del estudio fue del 73,6% (14/19). Conclusiones: la edad fue similar a lo descrito en la literatura. El sexo predominante fue el masculino. La mayoría fueron no funcionantes (37%). La mayoría fueron intervenidos quirúrgicamente (73%), con escasa morbilidad (28%) y con una supervivencia actuarial en el momento de cerrar el estudio del 73,6%(AU)

Introduction and objective: pancreatic endocrine tumors (PET) are difficult to diagnose. Their accurate localization using imaging techniques is intended to provide a definite cure. The goal of this retrospective study was to review a PET series from a private institution. Patients and methods: the medical records of 19 patients with PETs were reviewed, including 4 cases of MEN-1, for a period of 17 years (1994-2010). A database was set up with ten parameters: age, sex, symptoms, imaging techniques, size and location in the pancreas, metastasis, surgery, complications, adjuvant therapies, definite diagnosis, and survival or death. Results: a total of 19 cases were analyzed. Mean age at presentation was 51 years (range: 26-67 y) (14 males, 5 females), and tumor size was 5 to 80 mm (X: 20 mm). Metastatic disease was present in 37% (7/19). Most underwent the following imaging techniques: ultrasounds, computed tomography (CT) and magnetic resonance imaging (MRI). Fine needle aspiration punction (FNA) was performed for the primary tumor in 4 cases. Nonfunctioning: 7 cases (37%), insulinoma: 2 cases [1 with possible multiple endocrine neoplasia (MEN)], Zollinger-Ellison syndrome (ZES) from gastrinoma: 5 (3 with MEN-1), glucagonoma: 2 cases, 2 somatostatinomas; carcinoid: 1 case with carcinoide-like syndrome. Most patients were operated upon: 14/19 (73%). Four (4/14: 28%) has postoperative complications following pancreatectomy: pancreatitis, pseudocyst, and abdominal collections. Some patients received chemotherapy (4), somatostatin (3) and interferon (2) before or after surgery. Median follow-up was 48 months. Actuarial survival during the study was 73.6% (14/19). Conclusions: age was similar to that described in the literature. Males were predominant. Most cases were non-functioning (37%). Most patients underwent surgery (73%) with little morbidity (28%) and an actuarial survival of 73.6% at the time of the study(AU)

Miastenia gravis, timoma y seudooclusión intestinal / Myasthenia gravis, thymoma and intestinal pseudo-obstruction

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