Results: 100

Higher rate of rheumatic manifestations and delay in diagnosis in Brazilian Fabry disease patients

Adv Rheumatol; 60 (), 2020
Abstract Background: Fabry disease (FD) is an X-linked lysosomal disorder due to mutations in the GLA gene resulting in defective enzyme alpha-galactosidase A. FD patients are frequently misdiagnosed, commonly for rheumatic diseases. Determining pathogenicity of a mutation depends of in silico predictio...

The rare case of a cystic pancreatic neuroendocrine tumor

Autops. Case Rep; 10 (3), 2020
The pancreatic neuroendocrine tumors (PanNETs) most commonly present as solid neoplasms; however, very rarely, they may present primarily as cystic neoplasms. Most of the cystic PanNETs are non-secreting tumors, and the radiological features are not well defined. Hence pre-operative diagnosis is usually ...

Spider bites of medical significance in the Mediterranean area: misdiagnosis, clinical features and management

Despite the disrepute spiders have had for centuries, their bite is a rare occurrence. In the Mediterranean area, only two of the numerous known species are considered of medical significance: Latrodectus tredecimguttatus and Loxosceles rufescens. Spider bites have no pathognomonic signs or symptoms, the...

Pitfalls en RM de próstata multiparamétrica

Rev. chil. radiol; 25 (4), 2019
Resumen: La resonancia magnética multiparamétrica (RMmp) de próstata ha tenido un desarrollo importante en los últimos años dado la alta prevalencia del cáncer de próstata y la necesidad de tener información imagenológica concreta para el correcto manejo de los pacientes urológicos. Otras técn...

Insuficiencias metodológicas lastran el diagnóstico de la enfermedad celiaca
Methodological shortage hampers the diagnostic of celiac disease

Rev. cuba. pediatr; 91 (4), 2019
Introducción: La enfermedad celiaca es el resultado de una sensibilidad permanente al gluten. Puede conducir principalmente a trastornos intestinales. Cuatro criterios son utilizados para el diagnóstico de esta enfermedad: clínicos, histológicos, serológicos y moleculares. La insuficiente utilizaci�...

Outcomes of cases of prenatally-diagnosed congenital pulmonary airway malformation

Abstract Objective To evaluate the outcomes of cases of prenatally-diagnosed congenital pulmonary airway malformation (CPAM). Methods We retrospectively evaluated cases of prenatally-diagnosed CPAM between 2004 and 2018. Ultrasonographic features such as visualization of a fetal lung mass and heterogen...

Prevalence of Masked and White-Coat Hypertension in Pre-Hypertensive and Stage 1 Hypertensive patients with the use of TeleMRPA

Arq. bras. cardiol; 113 (5), 2019
Abstract Background: The diagnosis of arterial hypertension based on measurements of blood pressure in the office has low accuracy. Objective: To evaluate the prevalence of masked hypertension (MH) and white-coat hypertension through home blood pressure monitoring (HBPM) in pre-hypertensive and stage 1...

Anticuerpos anti-estreptavidina: Confusión diagnóstica por interferencia bioquímica
Anti-estreptavidin antibodies. Diagnostic confusion by biochemical interference

Medicina (B.Aires); 79 (5), 2019
Se presenta el caso de una paciente que, durante los estudios por búsqueda de fertilidad y posterior embarazo, mostraba un perfil tiroideo alterado con niveles elevados de T4 libre y TSH normal. Luego de descartar un adenoma tirotropo y ante la ausencia de sintomatología clínica de hipertiroidismo, se...

Pediatric appendicitis: age does make a difference

ABSTRACT Objective: To investigate the influence of patient age on the diagnosis and management of appendicitis, as well as to evaluate the rate of complications according to the age group. Methods: We undertook a retrospective analysis of 1,736 children who underwent laparoscopic appendectomy in our...