Results: 279

Surgical repair of complex aortopulmonary window: a case study

Abstract Aortopulmonary septal defect, also known as the aortopulmonary window, is a rare congenital macrovascular malformation. This case involves a 9-year-old boy with aortopulmonary septal defect (type I combined with type IV). Before surgery, milrinone and alprostadil were used to counteract high lun...

Locoregional recurrence of Frantz' tumor: a case report and review of the literature

SUMMARY Frantz' tumours or solid pseudopapillary tumours of the pancreas are rare neoplasms with low malignant potential. Young women in the second to third decades of life are more frequently affected. The treatment of choice is resection of the lesion, which is often curative. The recurrence is uncommo...

Mortalidad por enfermedades huérfanas en Colombia, 2008-2013

Biomédica (Bogotá); 38 (2), 2018
Resumen Introducción. Las enfermedades huérfanas caracterizadas por su baja prevalencia, comúnmente son de origen genético y degenerativo, y amenazan la vida. Objetivo. Describir la mortalidad por enfermedades huérfanas y analizar la tendencia en Colombia entre 2008 y 2013. Materiales y métodos....

Modelos de atención en salud en enfermedades raras: revisión sistemática de la literatura

Resumen Las enfermedades de baja prevalencia requieren modelos de gestión diferentes a los de otras condiciones. Este trabajo buscó recoger las experiencias internacionales. Se realizaron búsquedas en numerosas bases de datos de literatura indexada y de documentos grises. Un panel de expertos de dife...

A rare case of gastric mucormycosis in an immunocompetent patient

Abstract We report the case of a 23-year-old immunocompetent patient who presented at the emergency department of a Brazilian hospital with epigastric pain and fever. After an investigation that included a computed tomography scan and upper gastrointestinal endoscopy with biopsy, a diagnosis of mucormyco...

Paciente con asociación de síndrome uña-rótula y artrogriposis múltiple congénita. Evolución clínico-radiológica
Patient with association of nail-patella syndrome and multiple congenital arthrogryposis. Clinical radiological evolution

Rev. medica electron; 40 (3), 2018
RESUMEN La asociación de la artrogriposis múltiple congénita con el síndrome uña -rótula es rara, porque ambas patologías son infrecuentes. Debido a la gran variedad de manifestaciones clínico-radiológica de ambos síndromes, es necesario conocer el cuadro clínico de cada una de ellas para pode...

Adult linear IgA bullous dermatosis: report of three cases

An. bras. dermatol; 93 (3), 2018
Abstract: Linear immunoglobulin A bullous dermatosis is a rare autoimmune disease that usually has an excellent prognosis in childhood; however, its control is more difficult in adults. It presents heterogeneous clinical manifestations and is frequently confused with other bullous diseases such as bullou...

Enfermedad de Wegener o granulomatosis con poliangeítis. Presentación de un caso
Wegener´s disease or granulomatosis with polyangiitis. Case presentation

Rev. medica electron; 40 (3), 2018
RESUMEN La enfermedad de Wegener o granulomatosis con poliangeítis, es una enfermedad rara, que se caracteriza por presentar una vasculitis sistémica primaria granulomatosa, con afectación de las vías aéreas superiores, inferiores y el riñón. Se exponen las características clínicas y resultados ...

Mammary hibernoma: A case report of a rare disease

Abstract Mammary hibernomas are extremely rare benign tumors composed of brown fat cells, with only five cases previously reported in the literature. We report the case of a 42- year-old female patient with a painless growing mass in her right breast. A partial mastectomy was performed, and the diagnosis...

Acromegaly: a rare disease?

Medicina (B.Aires); 78 (2), 2018
Acromegaly is generally considered a benign and uncommon disease. However, some recent data bring support to the idea that it is more frequent than previously thought. Besides, acromegaly can significantly shorten the length of life due to its cardiovascular and metabolic complications. Since its clinica...