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)
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
3 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
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
5 mins
5 A's of Alzheimer's Disease
- Agnosia
- Anomia
- Aphasia
- Apraxia
- Amnesia
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
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
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
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
3 mins
Sickle Cell Anemia (Management)
- Long Term Treatment
- Hydroxyurea
- Bone Marrow Transplant
- Folate
- Acute Treatment
- Exchange Transfusion
- Prophylaxis
- Penicillin Prophylaxis
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
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
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
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
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
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)
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
4 mins
