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Quatrième de couverture : "L'hémogramme est l'examen biologique le plus prescrit en France. C'est un test d'exploration clé pour le diagnostic et le suivi des maladies du sang, mais aussi un test d'orientation dans de nombreuses autres situations médicales ou chirurgicales. Pour aider les professionnels de santé dans leurs investigations, cet ouvrage organisé en trois parties, présente de manière concise toutes les étapes du diagnostic hématologique, depuis la recherche d'une anomalie de l'hémogramme jusqu'au diagnostic final. 1 Démarches diagnostiques : s'orienter rapidement devant une anomalie de l'hémogramme à partir d'arbres décisionnels clairs et détaillés dans la suite du chapitre. Modalités de prescription, interprétation des principaux examens complémentaires et prise en charge du patient sont décrites pour chaque anomalie. 2 Principales hémopathies : l'essentiel de ce qu'il faut connaître sur les hémopathies les plus fréquentes pour poser le bon diagnostic et/ou orienter les investigations complémentaires. 3 Listes utiles : répertoire d'anomalies cellulaires les plus communes. Elles permettront au lecteur de trouver rapidement leurs significations."

Hematologic Diseases --- Blood Cell Count --- Hematologic Tests --- Hémogramme. --- Sang --- diagnosis --- Maladies. --- Hémogramme. --- Blood --- biochemistry --- Blood cell count --- Hémopathies. --- Diseases --- Diagnosis --- Hematologic Diseases - diagnosis --- Blood - biochemistry --- Hematologic Tests. --- diagnosis.

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Phenylketonuria (PKU) is an established inherited amino acid disorder with a very traditional dietary therapy, but there is still more to learn and verify about its nutritional composition, application and overall effectiveness. Although in the 1950s, the first patient successfully treated with diet therapy patently established the role of a low phenylalanine protein substitute, in present times, it is still necessary to characterise the most effective source of artificial protein; defining its optimal amino acid profile; and identifying nutrient modulation that will improve the functionality of protein substitutes. It is also important to understand the impact of a life-long synthetic diet on gut microbiota, metabolomics and inflammatory status. In early-treated patients with PKU, it is unclear if co-morbidities such as overweight, obesity, hypertension and diabetes are higher than in the general population and if these are associated with increased cardiovascular risk. It is also uncertain if overweight and obesity in PKU is related to early dietary practices, the nutritional composition of protein substitutes and special low-protein foods, impact of the dietary treatment on satiety, disordered eating patterns, non-adherence with the low phenylalanine diet and poor metabolic control, or if this is even a consequence of the disorder. In a generation of ageing patients, the impact of intermittent and suboptimal dietary adherence on nutritional status deserves systematic study.

Research & information: general --- Biology, life sciences --- Food & society --- phenylketonuria --- special low protein foods --- nutritional composition --- UK --- macronutrients --- phenylketonuria (PKU) --- consensus --- Delphi method --- food labelling --- phenylalanine --- Phe --- protein --- exchanges --- PKU --- glycomacropeptide --- amino acid --- absorption --- diet therapy --- protein substitute --- gastrointestinal symptoms --- prolonged release --- satiety --- macronutrient intake --- protein content --- free from --- gluten free --- aspartame --- sugar tax --- phenylalanine hydroxylase deficiency --- hyperphenylalaninemia --- medical formula --- amino acid mixture --- tetrahydrobiopterin --- sapropterin --- BH4 --- body composition --- bone mineral density --- bone turnover markers --- osteoporosis --- blood biochemistry --- casein glycomacropeptide --- amino acid protein substitute --- low-protein diet --- newborn screening --- metabolic control --- guidelines --- nitrogen balance --- amino acid catabolism --- blood urea nitrogen --- body mass index --- obesity --- overweight --- phenylalanine restriction --- phenylalanine-restricted diet --- food --- school --- IHCP --- parent/caregiver experiences --- England --- prescribing patterns --- costs --- adult phenylketonuria --- standard operating procedure --- inherited metabolic disorders --- dietary management --- eating out --- low protein food --- restaurants --- amino acids --- adherence --- epigenetics --- health --- preconception --- women --- dietary patterns --- food frequency questionnaire --- validation --- reproducibility