Libro blanco de las ACES Pediátricas 2024

Neumología Pediátrica. Anexos ❚ 677 d. Recognize the inheritance pattern and genetic mechanism underlying spinal muscular atrophy e. Recognize that sleep-disordered breathing typically precedes overt respiratory failure in patients with neuromuscular disease f. Recognize that impaired airway clearance is a distinct risk factor for morbidity and mortality in neuromuscular disorders 9. Pulmonary alveolar proteinosis a. Recognize that pulmonary alveolar proteinosis can be congenital or acquired b. Understand the role of GM-CSF in surfactant homeostasis c. Know that the usual therapy for symptomatic pulmonary alveolar proteinosis is whole lung lavage 10. Prader-Willi syndrome a. Know that children with Prader-Willi syndrome also have an abnormal ventilatory response to hypoxemia b. Know that obese children with Prader-Willi syndrome have a decreased ventilatory response to hypercapnia and hypoxia 11. Familial dysautonomia a. Know that patients with familial dysautonomia (Riley-Day syndrome) have a reduced or absent ventilatory response to hypoxemia 2. Evaluation/Diagnosis A. Pulmonary history 1. Understand the importance of environmental exposure to animals, allergens, cigarette smoke, wood-burning stoves, and air pollutants in various respiratory diseases 2. Recognize the effect of immunizations on the risk and severity of subsequent respiratory infections 3. Identify the symptoms that assist in diagnostic evaluation of chronic chest pain (chronic cough, acute/chronic wheeze, hemoptysis, dyspnea) in childhood 4. Know that globus hystericus, hyperventilation syndrome, chronic nonproductive cough, chest pain, and laryngeal wheezing may have psychological components 5. Know the differential diagnosis of acute and chronic cough 6. Know that psychogenic or "habit" cough is characterized by its stereotypical nature and improvement during sleep B. Physical examination 1. Inspection a. Cyanosis 1. Know that peripheral cyanosis is a common finding in healthy children without hypoxemia 2. Understand the relationship between cyanosis and the concentration of desaturated hemoglobin 3. Understand the influence of carboxyhemoglobin and methemoglobin on skin color b. Respiratory pattern 1. Know the normal range of respiratory rate by age 2. Recognize abnormal respiratory patterns, including periodic breathing and Cheyne-Stokes, Biot, and Kussmaul respiration 3. Recognize periodic breathing