351 research outputs found
Extracellular vesicles proteins for early cancer diagnosis: From omics to biomarkers
No full textExtracellular vesicles (EVs) are a promising source of early biomarkers for cancer diagnosis. They are enriched with diverse molecular content, such as proteins, DNA, mRNA, miRNA, lipids, and metabolites. EV proteins have been widely investigated as potential biomarkers since they reflect specific patient conditions. However, although many markers have been validated and confirmed using external cohorts of patients and different analytical approaches, no EV protein markers are approved for diagnostic use. This review presents the primary strategies adopted using mass spectrometry and immune-based techniques to identify and validate EV protein biomarkers. We report and discuss recent scientific research focusing on cancer biomarker discovery through EVs, emphasizing their significant potential for the tempestive diagnosis of several cancer typologies. Finally, recent advancements in the standardization of EV isolation and quantitation through the development of easy-to-use and high-throughput kits for sample preparation—that should make protein EV biomarkers more reliable and accessible—are presented. The data reported here showed that there are still several challenges to be addressed before a protein vesicle marker becomes an essential tool in diagnosing cancer
Dietary Treatments and New Therapeutic Perspective in GLUT1 Deficiency Syndrome
No full textGLUT1 deficiency syndrome (GLUT1DS) results from impaired glucose transport into the brain: awareness of its wide phenotypic spectrum is a prerequisite in order to ensure an early diagnosis, treating the patients is the subsequent challenge to allow prompt compensation for the brain’s lack of fuel. The ketogenic diet (KD) plays a primary role in the treatment of GLUT1DS because it provides ketone bodies as an alternative source to meet the demands of energy of the brain. Therefore, we recommend early initiation of the KD based on the assumption that early diagnosis and treatment improves the long term neurological outcome: the classic KD (4:1 or 3:1) at the present time is the most proven and effective in GLUT1DS. A KD should be continued at least until adolescence, although there are reports of good tolerability even in adulthood, possibly with a less rigorous ratio; in our experience seizure and movement disorder control can be achieved by a 2:1 ketogenic ratio but the relationship between ketosis and neurodevelopmental outcome remains undetermined. Other types of KDs can, therefore, be considered. The Modified Atkins diet, for example, is also well tolerated and provides effective symptom control; furthermore, this diet has the advantage of being easy to prepare and more palatable, which are important requirements for good compliance. Nevertheless, about 20 % of these patients have compliance trouble or the same diet loses its effectiveness over time; for these reasons, new therapeutic strategies are currently under investigation but further studies on pathophysiological mechanisms and potential effects of novel “diets” or “therapies” are needed for this new pathology
Ambroise (R.), Frapa (P.), Giorgis (S.) ; photographies de Motte (V.) et Sauvaire (R.) ; dessins de Deffontaines (P.). 1989. Paysages de terrasses.
No full textMagagnosc J.S. Ambroise (R.), Frapa (P.), Giorgis (S.) ; photographies de Motte (V.) et Sauvaire (R.) ; dessins de Deffontaines (P.). 1989. Paysages de terrasses.. In: Norois, n°151, Juillet-Septembre 1991. p. 347
Ambroise (R.), Frapa (P.), Giorgis (S.) ; photographies de Motte (V.) et Sauvaire (R.) ; dessins de Deffontaines (P.). 1989. Paysages de terrasses.
No full textMagagnosc J.S. Ambroise (R.), Frapa (P.), Giorgis (S.) ; photographies de Motte (V.) et Sauvaire (R.) ; dessins de Deffontaines (P.). 1989. Paysages de terrasses.. In: Norois, n°151, Juillet-Septembre 1991. p. 347
GLUT1 deficiency syndrome 2013: Current state of the art
No full textAbstractGlucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The “classic” GLUT1DS patient presents with infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly, hypotonia, spasticity, and a complex movement disorder consisting of ataxia and dystonia. However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating hemiplegia, and other paroxysmal events, such as intermittent ataxia, dystonia, and migraine.At the current state of the art in understanding of GLUT1DS, classifying the disease phenotype as “classical” or “non-classical” seems to be of limited clinical utility. It seems more appropriate to think in terms of a broad clinical spectrum in which we can observe intellectual impairment, acquired microcephaly, epilepsy, and movement disorders characterized by different clinical manifestations and degrees of severity.Lumbar puncture, a simple investigation, should be considered the first diagnostic step that, moreover, is feasible worldwide. Thereafter, mutational analysis of the solute carrier family 2 (facilitated glucose transporter) member 1 (SLC2A1) gene should be performed in patients with highly suggestive clinical findings and low cerebrospinal fluid glucose (<50mg/dl or ratio <0.60).Early diagnosis is critical because it allows prompt initiation of treatment with a ketogenic diet (KD). Childhood is the critical period for treatment of GLUT1DS: early diagnosis is crucial for an effective etiological therapy. KD treatment can be useful in adulthood too. Compliance has been found to be much better in GLUT1DS than in the other conditions for which KD treatment is indicated
Commentary on “Catatonia in a Patient with Aicardi-Goutières Syndrome Efficiently Treated with Immunoadsorption”
No full textNumerical analysis of the dynamic interaction between an acoustic cavity and a vibrating coupled panel
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