Jill Shared "Chapter 3" - 7 Picmonics
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Chapter 3
- Pathophysiology
- Trisomy 21
- Meiotic Nondisjunction
- Signs and Symptoms
- Intellectual Disability (Mental Retardation)
- Single palmar crease
- Flat Facies
- Duodenal Atresia
- Hirschsprung's Disease
- Septum Primum Type ASD
- Endocardial Cushion Defects
- Prominent Epicanthal Folds
- Increased Risk of Acute Lymphoblastic Leukemia
- Alzheimer's Disease
- Autosomal Recessive
- CFTR Chromosome 7
- Cl- channel Defect
- Decreased Chloride Secretion
- Increased Na and Water Reabsorption
- Increased Na and Cl in Sweat
- Dehydration of Mucous Layers
- Diagnosis
- 10-13 Weeks
- Offer Chorionic Villus Sampling (CVS)
- 15-18 Weeks
- Quad Screen
- 18-20 Weeks
- Ultrasound
- Anatomic Screening
- 24-28 Weeks
- One-Hour Glucose Challenge Test
- 35-37 Weeks
- Streptococcus Agalactiae
- Cause/Mechanism
- Genetic Mutation
- Assessment
- Prolonged Bleeding
- Pain
- Hemarthrosis
- Interventions
- Clotting Factor Replacement Therapy
- DDAVP (Desmopressin Acetate)
- Antifibrinolytic Therapy
- Analgesics
- Considerations
- Genetic Counseling
- Prevent Injury
- Cause
- Autosomal Recessive Genetic Disorder
- Enzyme Deficiency
- Assessment
- Failure to Thrive
- Irritability
- Musty or Mousy Odor
- Cognitive Impairment
- Interventions
- Low Phenylalanine Diet
- Low Protein Foods (Diet)
- Avoid Aspartame
- Sapropterin (Kuvan)
- Considerations
- Guthrie Blood Test
- Assessment
- Decreased GABA
- Appears around Age 40
- Slow Cognitive Decline
- Choreiform Movements
- Non Repetitive Jerks
- Interventions
- Neuroleptics
- Tetrabenazine
- Genetic Counseling
- Considerations
- Stages of Disease
- High Calorie Diet
- Cause/Mechanism
- Hemoglobin S (Genetic Defect)
- Sickle Shaped RBCs
- Assessment
- Jaundice
- Vaso Occlusive Crisis
- Fever
- Priapism
- Severe Pain
- Considerations
- Prominent in African Americans
- May be Asymptomatic
- Increased Risk of Infection
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