Erica Shared "Genetics" - 17 Picmonics

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Genetics

Klinefelter's Syndrome
Pathophysiology
Male (XXY)
Signs and Symptoms
Eunuchoid Body Shape
Gynecomastia and Female Hair Distribution
Testicular Atrophy
Dysgenesis of Seminiferous Tubules
Possible Developmental Delay
Hypogonadism
Decreased Inhibin B
Increased FSH
Abnormal Leydig Cell Function
Decreased Testosterone
Increased LH
Increased Estrogen
Barr body (inactivated X chromosome)
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6 mins
Huntington's Disease
Pathophysiology
Autosomal Dominant
Trinucleotide Repeat
CAG Repeats
Chromosome 4
Anticipation
Caudate
Decrease of ACh
Decrease of GABA
Signs and Symptoms
Chorea
Dementia
Depression
Glutamate Toxicity
Neuronal Death via NMDA Binding
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3 mins
Huntington's Disease
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
Turner Syndrome
Signs and Symptoms
Female (XO)
Short stature
Shield Chest
Cystic Hygroma (Webbing of Neck)
Lymphedema in Hands and Feet
Ovarian Dysgenesis
Streak Ovary
Decreased Estrogen
Increased FSH
Increased LH
Dysgerminoma
Bicuspid Aortic Valve
Preductal Coarctation of the Aorta
Horseshoe Kidney
Menopause before Menarche
Amenorrhea
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5 mins
5 A's of Alzheimer's Disease
Agnosia
Anomia
Aphasia
Apraxia
Amnesia
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1 min
Alzheimer's Disease Assessment (Early Symptoms)
Risk Factors
Advanced Age
Early Signs and Symptoms
Poor Judgment and Decision-Making
Difficulty Having a Conversation
Inability to Manage a Budget
Losing Track of the Date or Season
Misplacing Things
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1 min
Alzheimer's Disease Assessment (Late Symptoms)
Late Signs and Symptoms
Memory Impairment
Wandering Behavior
Confabulation
Perseveration
Lack of Abstract Thinking
Severe Cognitive Decline
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1 min
Colorectal Cancer Assessment
3rd Most Common Cancer
Assessment
Change in Bowel Habits
Bowel Obstruction
Rectal Bleeding
Anemia
Weight Loss
Ascites
Considerations
Colonoscopy
FOBT and FIT
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2 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
Sickle Cell Anemia (Management)
Long Term Treatment
Hydroxyurea
Bone Marrow Transplant
Folate
Acute Treatment
Exchange Transfusion
Prophylaxis
Penicillin Prophylaxis
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1 min
Sickle Cell Anemia (Mechanism)
Intrinsic Normocytic Hemolytic Anemia
Point Mutation
Autosomal Recessive
African-American
Dehydration or Decreased O2
Newborns Asymptomatic
Heterozygote Malarial Resistance
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2 mins
Sickle Cell Anemia (Signs and Complications)
Signs
Crew-cut on Skull X-ray
Complications
Auto-splenectomy
Painful Crisis
Aplastic Crisis
Splenic-sequestration Crisis
Hyper-hemolytic Syndrome
Renal Papillary Necrosis
Salmonella osteomyelitis
Pulmonary Hypertension
Hyposthenuria
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2 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
Cystic Fibrosis Diagnosis and Treatment
Diagnosis
Sweat chloride test > 60 mmol/L
Meconium Ileus
Treatment
N-acetylcysteine
Antibiotic Prophylaxis
Pulmonary Maintenance
Lung transplant
Vitamin Replacement
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1 min
Cystic Fibrosis Symptoms and Complications
Recurrent Pulmonary Infections
Chronic Bronchitis
Nasal Polyps
Pancreatic Insufficiency
Intestinal Obstruction
Malabsorption and Diarrhea
Vitamin Deficiencies
Chronic Hepatic Disease
Infertility in Males
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1 min
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
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2 mins
Neurofibromatosis Type 1
Pathophysiology
Autosomal Dominant
Chromosome 17
Signs and Symptoms
Neurofibromas
Optic Glioma
Lisch Nodules
Hamartomas
Cafe Au Lait Spots
Scoliosis
Pheochromocytoma
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4 mins

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