Examen clinique

L'examen clinique fait partie de l'examen médical ou psychologique qui permet au médecin ou aux infirmiers en pratique avancée de décrire l'état d'un patient, ou d'un individu examiné par un psychologue, afin d'aboutir à un diagnostic à partir de données d'observations cliniques. Le mot clinique vient du latin signifiant « alité » ou « médecine exercée près du lit du malade ». Description .

L'examen physique comporte les 4 moyens d'observations ; inspection, palpation, percussion et auscultation.
L'examen clinique intègre les données obtenues lors de l'anamnèse (interrogatoire, questionnaire) et les données para-cliniques (examens complémentaires).

Cet examen comprend classiquement deux étapes : une anamnèse qui permet, par l'interrogatoire, de retracer l'histoire de la maladie, puis un examen physique à la recherche de signes physiques. Parfois, des examens médicaux complémentaires sont nécessaires si les deux étapes précédentes ne suffisent pas à l'établisseme

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Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Farah Ouechtati

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic evaluation included a full clinical examination, color vision testing and electroretinography. Linkage analysis using microsatellite markers flanking CNGA3, CNGB3, GNAT2 and PDE6C genes was performed. Mutations were screened by direct sequencing. A total of 12 individuals were diagnosed with congenital complete achromatopsia. They are members of six nuclear consanguineous families belonging to the same large consanguineous family. Linkage analysis revealed linkage to GNAT2. Mutational screening of GNAT2 revealed three intronic variations c.119-69G > C, c.161+66A > T and c.875 31G > C that co-segregated with a novel mutation p.R313X. An identical GNAT2 haplotype segregating with this mutation was identified, indicating a founder mutation. All patients were homozygous for the p.R313X mutation. This is the first report of the clinical and genetic investigation of complete achromatopsia in North Africa and the largest family with recessive achromatopsia involving GNAT2; thus, providing a unique opportunity for genotype-phenotype correlation for this extremely rare condition. Journal of Human Genetics (2011) 56, 22-28; doi:10.1038/jhg.2010.128; published online 25 November 2010

2011

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EEG beta band activity is related to attention and attentional deficits in the visual performance of elderly subjects

Izabela Szumska

We have previously shown that beta-band EEG activity is related to attentional modulation in the visual system of cats and humans. In a separate experiment we also observed that some elderly subjects expressed beta-band power decreases during a simple visual attention task, an effect which was accompanied by low behavioral accuracy in this subgroup. Here, we conducted a detailed examination of beta power deficits in elderly subjects in comparison to young controls. In order to do so, we equalized the subjective level of task difficulty by adjusting visual stimuli presentation duration in such a way that elderly and young subjects achieved similar behavioral results. We found that: (1) beta-band power of EEG signals recorded over occipital regions in elderly and young groups is related to visual attention, as judged from increases in beta power preceding correct responses and lack of beta activity change before erroneous responses; (2) despite forming a homogeneous group when screened for dementia (MMSE), age, education level, visual correction, and speed-accuracy trade-off strategy, elderly subjects could be assigned into one of the two subgroups: high performers, who did not differ from young performers in terms of beta-band power increases, and low ;performers, whose beta power decreased during the most difficult attentional conditions (shortest - 3 s and longest - 11 s cue-target delays). These findings posit that the beta-band activity decrease recorded in low performing elderly subjects reflects difficulty in activation and deficits in sustaining attentional processes. (C) 2013 Elsevier B.V. All rights reserved.

Elsevier2013

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Host and pathogen genomics of severe pediatric infections

Samira Asgari

Infectious diseases are among the leading causes of human morbidity and mortality, with the greatest burden felt in the pediatric population. For any infectious disease, only a fraction of the exposed individuals develop clinical symptoms. These inter-individual differences can be due to variation in pathogen virulence or in host susceptibility. The recent advent of high-throughput sequencing (HTS) technology has enabled studies of both human and pathogen genetic factors that have the potential to influence infectious diseases pathogenesis and alter clinical presentation. In this thesis, I present a set of genomic studies that used HTS to dissect the genetic basis of life-threatening infections with Pseudomonas aeruginosa (P. aeruginosa) and respiratory syncytial virus (RSV). This work provides conclusive evidence for the role of rare human genetic variants in susceptibility to life-threatening P. aeruginosa and RSV infections in previously healthy children. Furthermore, in an attempt to determine the role of viral genetic factors in severe presentations of RSV infection, I established a framework for exploring RSV genetic variation using HTS technology and bioinformatic analysis. Together, theses studies demonstrate that current genomic technology, bioinformatic analysis and functional follow-up have the potential to give us novel insight into the molecular basis of host-pathogen interactions and infectious disease pathogenesis.

EPFL2016

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