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1.
Case Rep Endocrinol ; 2020: 6827109, 2020.
Article in English | MEDLINE | ID: mdl-32082649

ABSTRACT

Introduction. Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively. Only 1-3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes. Clinical Case. A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor. The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing. Discussion and Conclusion. The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30-40% of cases. Only 20% of PGL are located in head and neck, of which only 1-3% will show elevated catecholamines. Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation. However, different phenotypes can be observed depending on such germline mutations. Genetic testing is important in patients with PCPG since 31% will present a germline mutation. In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered. A multidisciplinary approach is mandatory for every patient presenting with PCPG.

2.
GEN ; 63(2): 125-126, jun. 2009. ilus, tab
Article in Spanish | LILACS | ID: lil-664414

ABSTRACT

La interposición del colon entre el hígado y el diafragma es conocido como signo de Chilaiditis y este pasa a ser un síndrome cuando se encuentra asociado a síntomas como dolor abdominal, distensión, estreñimiento o vómitos, habitualmente es un hallazgo casual debido a que en la mayoría de los casos es asintomático y podría estar entre el 0.025% de todas las radiografías de tórax y abdomen realizadas. Se presenta el caso de un paciente femenino de 53 años quien presenta este hallazgo radiológico acompañado de estreñimiento y distensión.


The colon interposition between the liver and diaphragm is known as a Chilaiditis sign and this becomes a syndrome when it is associated with symptoms such as abdominal pain, bloating, constipation or vomiting, is usually an incidental finding because in most of the cases is asymptomatic and could be among the 0,025% of all the abdomen and chest x-rays carried out. We present a case of a female patient aged 53 who introduced this finding radiological accompanied by constipation and bloating.

3.
GEN ; 63(1): 21-24, mar. 2009. ilus, tab
Article in Spanish | LILACS | ID: lil-664389

ABSTRACT

Introducción: Helicobacter pylori (HP), gastritis atrófica, metaplasia intestinal, displasia, carcinoma gástrico, son patologías gástricas, cuyo diagnóstico es histológico. Objetivo: Revisión de hallazgos histológicos obtenidos por biopsias del tracto digestivo superior en el Servicio de Gastroenterología "Dr. Simón Beker" en el Hospital General del Oeste "Dr. José Gregorio Hernández" Mayo 2006 - 2007. Pacientes Y Métodos: Se revisaron los archivos de biopsias del servicio, estudio retrospectivo, corte transversal, descriptivo. Análisis estadístico de las variables, cálculo de la media aritmética, mediana y desviación estándar y chi cuadrado. Resultados: 599 pacientes, 67,4% femenino, 32,5% masculino, edad promedio de 47,3 años, se encontró: gastritis crónica 49,4%, HP 37,6%, cardioesofagítis crónica 4,8%, duodenitis crónica 4,5%, esófago de Barrett 1,7%, esofagítis crónica 1,4%, duodenitis parasitaria 0,5%, metaplasia intestinal gástrica completa 1,1% e incompleta 1,8%, ADC poco diferenciado 0,9% y bien diferenciado 0,08%, hiperplasia foveolar 0,7%, pólipo hiperplásico esofágico y papiloma escamoso ulcerado 0,08. De 571 pacientes con gastritis crónica, 434 (76%) presentaron infección por HP, con una asociación estadísticamente significativa. Conclusión: gastritis crónica e infección por HP son los hallazgos histológicos más frecuentes en nuestro centro.


Introduction: Helicobacter pylori (HP), intestinal atrophic gastritis, intestinal methaplasy, dysplasia and gastric carcinoma are gastric pathologies that depend on a histological diagnosis. Objective: Revision of histological findings obtained by biopsies of the upper digestive tract in the "Dr. Simón Beker" Gastroenterology Service in the Hospital General del Oeste "Dr. Jose Gregorio Hernandez" May 2006 - 2007. Patients and Methods: Biopsies records of the Service were reviewed, a retrospective, cross sectional, descriptive study was performed; with statistic analysis of the variables, calculations of the arithmetic mean median, standard deviation and chi square. Results: 599 patients, 67.4% female, 32.5% male, mean age of 47.3 years, were found: chronic gastritis 49.4%, HP 37.6%, 4.8% chronic cardioesophagitis, chronic duodenitis 4 5%, 1.7% BarrettÊs esophagus, chronic esophagitis 1.4%, 0.5% duodenitis, complete gastric intestinal methaplasy 1.1% and incomplete 1.8%, poorly differentiated ADC 0.9% and well differentiated 0.08%, 0.7% foveolar hyperplasia, esophageal hyperplasic polyps and ulcerated squamous papilloma 0.08. Of 571 patients with chronic gastritis, 434 (76%) were infected by HP, with a statistically significant association. Conclusion: chronic gastritis and infection by HP are the histological more frequent findings at our center.

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