Therapeutische Umschau. Revue thérapeutique
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For general practitioners, emergency assessment of a critically ill or injured child can be difficult, as history is usually given by caregivers, physical examination may be challenging due to lack of cooperation and vital signs are potentially difficult to interpret because of age-related variations. The Pediatric Assessment Triangle (PAT) is a rapid and simple observational tool to standardize the initial assessment of children regardless of complaint or underlying diagnosis. ⋯ It allows clinicians to assess whether an urgent intervention is necessary or whether a more detailed history and physical examination may be done. Respiratory distress, gastro-enteritis with dehydration, febrile convulsions and traumatic brain injury constitute four common pediatric complaints that are encountered in a general practitioners consultation and will be discussed in some detail.
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New key technologies such as array-based molecular karyotyping and high throughput sequencing are currently introduced in pre- and postnatal diagnostic testing. These greatly improved genomic testing approaches are beginning to fundamentally change diagnostic strategies in the clinical setting. Molecular karyotyping in the fetus is now routinely performed in high risk situations or on parental request. ⋯ This approach allows for increased diagnostic yield in monogenic disorders and defining of more detailed genoptype-phenotype correlations. In addition, whole-exome or whole-genome sequencing has led to the identification of the genetic basis of many known genetic disorders and to the identification and delineation of novel disorders thus allowing a diagnosis in more patients. Fulfilling the potential of the increasing number of options for genetic testing for accurate diagnosis requires close collaboration between clinical geneticists and paediatricians.