Search results for " DIAGNOSIS"
showing 10 items of 1378 documents
Emergence of tularemia in France: paradigm of the Burgundy region
2011
International audience; We report three consecutive cases of tularemia occurring in Burgundy, France, a region previously considered not endemic for tularemia. The patients presented with varied and unspecific clinical manifestations. The epidemiological circumstances, especially the mode of contamination, were not particularly suggestive of tularemia. Serological diagnosis was delayed in two cases because of the lack of significant antibody titers at the time of admission. In contrast, a diagnosis could readily be obtained in all three cases by detection of Francisella tularensis DNA from clinical samples using PCR-based methods. These cases highlight the increased incidence and geographic…
Patterns of transmitted HIV drug resistance in Europe vary by risk group
2014
BACKGROUND: In Europe, a continuous programme (SPREAD) has been in place for ten years to study transmission of drug resistant HIV. We analysed time trends of transmitted drug resistance mutations (TDRM) in relation to the risk behaviour reported. METHODS: HIV-1 patients newly diagnosed in 27 countries from 2002 through 2007 were included. Inclusion was representative for risk group and geographical distribution in the participating countries in Europe. Trends over time were calculated by logistic regression. RESULTS: From the 4317 patients included, the majority was men-having-sex-with-men -MSM (2084, 48%), followed by heterosexuals (1501, 35%) and injection drug users (IDU) (355, 8%). MSM…
17β-Hydroxysteroid dehydrogenase-3 deficiency: From pregnancy to adolescence
2009
OBJECTIVE: Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17beta-hydroxysteroid-dehydrogenase type 3 (17beta-HSD3) deficiency in Italy. SETTING: Pediatric Endocrine Departments, University Hospitals. PATIENTS: The cases of 5 Italian subjects affected by 17beta-HSD3 deficiency are presented in this study. INTERVENTIONS: Laboratory and genetic assessment. Gonadectomy and female sex assignment (4 patients) or GnRH analog therapy to regress puberty and gender identity disorder (1 patient). RESULTS: Presentation lasted from pregnancy (pre-natal diagnosis of a 46,XY fetus with female external genitalia) to infancy (inguinal hernia contai…
From pioneering to implementing automated blood pressure measurement in clinical practice: Thomas Pickeringʼs legacy
2010
Thomas G. Pickering spent most of his scientific career in carrying out research on clinical hypertension and blood pressure (BP) measurement. In our review of Pickering's seminal work, we first focused on white-coat hypertension and masked hypertension, two terms that he had introduced. Next, we highlighted the early publications of Pickering on diurnal BP variability and on the clinical application of self-measured BP. Pickering's work inspired many investigators worldwide and constituted a solid basis for further research. Pickering's original ideas led to algorithms for risk stratification involving white-coat hypertension and masked hypertension, diurnal BP variability, and self-measur…
Cardiovascular events and intensity of treatment in polycythemia vera.
2013
A b s t r ac t Background Current treatment recommendations for patients with polycythemia vera call for maintaining a hematocrit of less than 45%, but this therapeutic strategy has not been tested in a randomized clinical trial. Methods We randomly assigned 365 adults with JAK2-positive polycythemia vera who were being treated with phlebotomy, hydroxyurea, or both to receive either more intensive treatment (target hematocrit, <45%) (low-hematocrit group) or less intensive treatment (target hematocrit, 45 to 50%) (high-hematocrit group). The primary composite end point was the time until death from cardiovascular causes or major thrombotic events. The secondary end points were cardiovascula…
Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on i…
2021
Abstract BACKGROUND Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, fur…
Chronic bronchitis without airflow obstruction, asthma and rhinitis are differently associated with cardiovascular risk factors and diseases
2019
Background and objectives Cardiovascular and respiratory diseases can frequently coexist. Understanding their link may improve disease management. We aimed at assessing the associations of chronic bronchitis (CB), asthma and rhinitis with cardiovascular diseases and risk factors in the general population. Methods We used data collected in the Gene Environment Interactions in Respiratory Diseases study, an Italian multicentre, multicase-control study. Among 2463 participants (age 21–86, female 50%) who underwent standardized interviews, skin prick and lung function tests, we identified 254 cases of CB without airflow obstruction, 418 cases of asthma without CB, 959 cases of rhinitis alone, a…
“Relaparoscopic” management of surgical complications: The experience of an Emergency Center
2015
Background/aim: Laparotomy has been the approach of choice for re-operations in patients with surgical complications. The aim of this retrospective analysis was to evaluate the feasibility and the safety of laparoscopic approach for the management of general abdominal surgery complications. Materials and methods: We report a retrospective review of 75 patients who underwent laparoscopic evaluation for postoperative complications over a 4-year period. Primary outcomes (resolution rate by exclusive laparoscopic approach, conversion rate, further surgery rate) and secondary outcomes (mortality, hospitalization, prolonged ileus, wounds problems and median operative time) were evaluated. Results…
Encapsulating peritoneal sclerosis: do not be too late for the right diagnosis! Case report and short literature review
2020
Encapsulating peritoneal sclerosis (EPS) is a rare clinical syndrome characterized by an acquired, inflammatory fibrocollagenous membrane encasing the small intestine, resulting in symptoms of bowel obstruction. It is still unclear whether early surgical intervention has an advantage over conservative management, but, in most reviewed case reports, it is preferred to preserve the surgical management in patients not responding to conservative measures, or when bowel ischaemia is occurring. We report a case of a 58-year old patients, affected by chronic renal failure, on treatment with peritoneal dialysis, in which a late diagnosis of encapsulating peritoneal sclerosis was made, and where sur…
Correction: Association of ionizing radiation dose from common medical diagnostic procedures and lymphoma risk in the Epilymph case-control study
2020
International audience; Medical diagnostic X-rays are an important source of ionizing radiation (IR) exposure in the general population; however, it is unclear if the resulting low patient doses increase lymphoma risk. We examined the association between lifetime medical diagnostic X-ray dose and lymphoma risk, taking into account potential confounding factors, including medical history. The international Epilymph study (conducted in the Czech-Republic, France, Germany, Ireland, Italy, and Spain) collected self-reported information on common diagnostic X-ray procedures from 2,362 lymphoma cases and 2,465 frequency-matched (age, sex, country) controls. Individual lifetime cumulative bone mar…