ABSTRACT
INTRODUCTION: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist. METHODS: A retrospective multicentric study involving type 1 GD patients has been conducted in 16 centers, between 2009 and 2011. RESULTS: Fifty-five type 1 GD patients were included, under the care of an internist or an haematologist. They were originally hospitalized in 8 different specialized units. Diagnosis was established by bone-marrow aspiration in 22 patients (40%), by enzymatic assay of glucocerebrosidase activity in 15 patients (27%), and by bone-marrow biopsy in 9 patients (16%). The use of enzymatic assay became more frequent after 1990. The delay between first hospitalization due to GD symptoms and definitive diagnosis was less than one year for 38 patients. Patients with suspected GD were mainly referred to an internist physician. CONCLUSION: GD seems to be better recognized and quickly diagnosed since 1990 in spite of the multiplicity of journeys. The role of the internist seems important.
Subject(s)
Critical Pathways , Diagnostic Techniques and Procedures , Gaucher Disease/diagnosis , Hematology/methods , Internal Medicine/methods , Adult , Aged , Diagnosis, Differential , Female , Gaucher Disease/genetics , Genetic Testing/methods , Hematology/organization & administration , Humans , Internal Medicine/organization & administration , Male , Middle Aged , Retrospective Studies , Surveys and QuestionnairesABSTRACT
Gender studies of a profession focus on the work distribution between men and women. Sociologists started to study the medical profession in the 80s only. Since it was male-dominated female doctors had no choice but adjusting their behavior to that of men. Nowadays, the majority of the young people interested in becoming a doctor are women. It is mandatory to gain insight into the demographic specificities of the medical population working in a large university hospital (according to sex, age, as well as to the level within the medical hierarchy). It is also important to analyze the key elements that differentiate male and female in their relationship to work and promotion. Finally, it is urgently necessary to change our organizations as well as our practices in order to be able to take into account these major changes of the medical demography.
Subject(s)
Career Choice , Physicians , Attitude of Health Personnel , Female , Humans , Male , Sex FactorsABSTRACT
Doctors must regularly adjust their patients' care according to recent relevant publications. The chief residents from the Department of Internal Medicine of a university hospital present some major themes of internal medicine treated during the year 2008, such as heart failure, diabetes, COPD, and thromboembolic disease. Emphasis will be placed primarily on changes in the daily hospital practice induced by these recent studies. This variety of topics illustrates both the broad spectrum of the current internal medicine, and the many uncertainties associated with modem medical practice based on evidence.
