Search results for "diagnostic tool"

El asesoramiento genético en los déficits visuales y auditivos

2008

espanolObjetivo: Las enfermedades hereditarias que afectan a la retina y la audicion presentan una amplia heterogeneidad clinica y genetica. Durante la pasada decada se han producido importantes avances en el conocimiento de la patogenia molecular de estas enfermedades y, actualmente, mas de 200 genes y loci estan implicados en enfermedades de la retina y mas de 60 son responsables de perdida de audicion. Metodo: El estudio genetico molecular es crucial para confirmar el diagnostico clinico, permite, en ocasiones, conocer el pronostico de la enfermedad, un consejo genetico y reproductivo adecuado y permite la posibilidad de crear grupos de pacientes geneticamente homogeneos para futuros ens…

New imaging techniques and opportunities in endoscopy.

2011

Gastrointestinal endoscopy is undergoing major improvements, which are driven by new available technologies and substantial refinements of optical features. In this Review, we summarize available and evolving imaging technologies that could influence the clinical algorithm of endoscopic diagnosis. Detection, characterization and confirmation are essential steps required for proper endoscopic diagnosis. Optical and nonoptical methods can help to improve each step; these improvements are likely to increase the detection rate of neoplasias and reduce unnecessary endoscopic treatments. Furthermore, functional and molecular imaging are emerging as new diagnostic tools that could provide an oppor…

Methods to investigate coronary microvascular function in clinical practice.

2012

A growing amount of data is increasingly showing the relevance of coronary microvascular dysfunction (CMVD) in several clinical contexts. This article reviews techniques and clinical investigations of the main noninvasive and invasive methods proposed to study coronary microcirculation and to identify CMVD in the presence of normal coronary arteries, also trying to provide indications for their application in clinical practice.

Choledochocele imaged with magnetic resonance cholangiography.

2000

Choledochal cysts are rare developmental malformations of the biliary tree. Percutaneous and endoscopic ultrasound, as well as endoscopic retrograde cholangiopancreatography, are recommended diagnostic tools. Magnetic resonance cholangiography may also contribute to the workup and treatment plan of patients with choledochal cysts. We report a 25-yr-old white woman with episodic nausea and moderate epigastric dyscomfort. Magnetic resonance cholangiography showed a rather spherical, cyst-like, fluid-filled structure in continuity with the prepapillary segment of the common bile duct, thus making a choledochocele (type III choledochal cyst) likely. The patient was treated by endoscopic sphinct…

La perception phonémique en français des apprenants polonophones (le cas des voyelles antérieures de moyenne aperture : [e][ɛ])

2017

The perception of sounds of a foreign tongue influences the quality of comprehension and speaking in the language, as well as learning how to read and write properly. The differentiation and identification of sounds enables the development of aural-verbal memory, subsequently associating particular sound patterns with particular meanings. In other words, a developed perception of sounds ensures an efficient communication in a foreign language. Since learners perceive foreign sounds with varied proficiency, the teacher should recognize the difficulties and undertake remedial measures to facilitate learning progress. This article aims to present an educational tool, currently in development, …

16S rRNA sequences as diagnostic tools to elucidate potential symbiotic relationships between bacteria and the marine sponge Halichondria panicea : r…

1999

Ausgeprägte Virilisierung in der Postmenopause - eine Falldarstellung

2005

Severe postmenopausal virilization is a rare event in clinical practice. To evaluate ovarian or adrenal hyperandrogenism endocrine tests and imaging are useful diagnostic tools. We report a case of a postmenopausal woman with hirsutism and androgenetic alopecia. A malignant cause for the present disorder could be excluded by imaging. Selective venous sampling was administered with increased testosterone level of the right adrenal vein. Right adrenalectomy and right oophorctomy was recommended.

Extracellular vesicles in parasitic diseases

2014

Parasitic diseases affect billions of people and are considered a major public health issue. Close to 400 species are estimated to parasitize humans, of which around 90 are responsible for great clinical burden and mortality rates. Unfortunately, they are largely neglected as they are mainly endemic to poor regions. Of relevance to this review, there is accumulating evidence of the release of extracellular vesicles (EVs) in parasitic diseases, acting both in parasite parasite inter-communication as well as in parasite host interactions. EVs participate in the dissemination of the pathogen and play a role in the regulation of the host immune systems. Production of EVs from parasites or paras…

In Vivo Nuclear Imaging of Hypoxia as Predictive Biomarkers and follow up the Response to Anti-VEGF Therapies in Idiopathic Pulmonary Fibrosis

2022

Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive and fatal disease of unknown origin. In France, it is one of the most common interstitial pathologies (IP) and affects 4,400 new people each year. IPF is characterized by dysregulated healing mechanisms that lead to the accumulation of large amounts of collagen in the lung tissue and cause disorganization of the alveolar architecture. It results in progressive deterioration of the respiratory function, leading in a few years to chronic respiratory failure and then to death. Idiopathic pulmonary fibrosis has a lower survival rate than many cancers with a median survival of 2 to 5 years from diagnosis. This pathology whose main ris…

A genomic diagnostic tool for human endometrial receptivity based on the transcriptomic signature

2009

Objective: To create a genomic tool composed of a customized microarray and a bioinformatic predictor for endometrial dating and to detect pathologies of endometrial origin. To define the transcriptomic signature of human endometrial receptivity. Design: Two cohorts of endometrial samples along the menstrual cycle were used: one to select the genes to be included in the customized microarray (endometrial receptivity array [ERA]), and the other to be analyzed by ERA to train the predictor for endometrial dating and to define the transcriptomic signature. A third cohort including pathological endometrial samples was used to train the predictor for pathological classification. Setting: Healthy…