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Jill Shared "Chapter 3" - 7 Picmonics

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Chapter 3

Down Syndrome
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
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3 mins
Cystic Fibrosis Mechanisms
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
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2 mins
Lab and Diagnostic Tests During Pregnancy (Other Visits)
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
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3 mins
Hemophilia
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
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3 mins
Phenylketonuria (PKU)
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
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2 mins
Huntington's Disease Assessment and Interventions
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
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2 mins
Sickle Cell Anemia Assessment
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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2 mins

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