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Kindergeneeskunde blijft een uitdagende en vooral boeiende klinische specialiteit. In tegenstelling tot veel 'orgaanspecialismen', is het verwerven van een totaalbeeld bij een ziek kind essentieel om tot een correcte diagnose te komen. De sleutel daarvoor is een grondig en adequaat klinisch onderzoek. In dit boek wordt de student en de geïnteresseerde arts een aantal handvatten aangereikt om het systematisch klinisch onderzoek van het kind onder de knie te krijgen. Het boek weerspiegelt het jarenlange klinisch semeiologisch onderwijs aan de K.U. Leuven en is een bundeling van verschillende hoofdstukken die telkens een belangrijk deelaspect van de pediatrische semeiologie belichten.
Semiology. Diagnosis. Symptomatology --- semiologie --- diagnostiek (geneeskunde) --- baby's --- pediatrie --- kinderverpleegkunde --- Nursing --- Pediatrie --- Academic collection --- 605.2 --- klinisch onderzoek --- anamnese (ziektegeschiedenis) --- groei --- kinderen --- kindergeneeskunde (kinderziekten, pediatrie, perinatologie) --- palpatie --- psychomotorische ontwikkeling --- pubers (puberteit) --- Pediatrics --- Physical Examination --- Child --- Children --- Minors --- Examination, Physical --- Physical Examinations and Diagnoses --- Physical Exam --- Exam, Physical --- Examinations, Physical --- Exams, Physical --- Physical Examinations --- Physical Exams --- Surgical Clearance --- Independent Medical Evaluation --- kindergeneeskunde --- Kindergeneeskunde - Pediatrie
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Physiology of nerves and sense organs --- Neurologie --- Oogheelkunde --- Ophtalmologie --- Academic collection --- Theses
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Objectives: Inborn errors of metabolism (IEM) are a rare cause of childhood epilepsy. Diagnostic workup can be challenging for the physician. In this short narrative review a list was made of the most frequent and treatable forms of IEM causing childhood epilepsy. These disorders are presented by age of onset: vitamin responsive epilepsy (pyridoxine-dependent epilepsy, pyridoxamine 5’-phosphate oxidase deficiency, folinic acid responsive seizures, biotinidase/holocarboxylase deficiency), amino acid disorders (non-ketotic hyperglycinemia, serine biosynthesis disorder), organic acidemias, urea cycle defects, GLUT 1 transporter deficiency disorder, cerebral folate deficiency, creatine deficiency disorder and mitochondrial disorders. The aim was to provide a straightforward approach to identify and treat IEM. Methods: A literature research was carried out to identify all relevant articles. Papers were searched on Pubmed with the following MeSH terms: ‘Epilepsy’ ; ‘Metabolism Inborn Errors’. All review articles written in English, after 2004 and from a journal with an impact factor higher than 1.5 were included. Results & Conclusion: Each IEM is characterized by a specific deficit in the metabolic pathophysiology. Hence a diagnosis can be made based on specific laboratory investigations and gene mutation analysis. This short narrative review provides an overview of these clinical and diagnostic hallmarks. In each case targeted treatment strategies can significantly affect the neurological outcome and prognosis of the child.
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