Trevor Shared "Path Final" - 34 Picmonics
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Path Final
Factor V Leiden Thrombophilia
- Pathophysiology
- Most Common Genetic Clotting Disorder in Caucasians
- Genetic Point Mutation
- Glutamine Replaces Arginine
- Mutant Factor V
- Resistant to Degradation by Activated Protein C
- Symptoms
- Hypercoagulability
- Recurrent DVT (Increased Risk of Thromboembolism)
- Considerations
- Avoid Oral Contraceptives
- Caution During Pregnancy
2 mins
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
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
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
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
Ehlers-Danlos Syndrome Types
- Types
- Types 1 and 2 - Classical
- Type V Collagen Mutation
- Joints and Skin
- Type 3 - Hypermobility
- Most Common
- Tenascin X Deficiency
- Joint Instability
- Type 4 - Vascular
- Type III Collagen Mutation
- Vascular and Organ Rupture
2 mins
Ehlers-Danlos Syndrome Disease
- Pathophysiology
- Faulty Collagen Synthesis
- Autosomal Dominant or Recessive
- Various Severities
- Signs and Symptoms
- Hypermobile Joints
- Hyperextensible Skin
- Easy Bruising/Bleeding
- Berry (Saccular) Aneurysm
- Considerations
- Brighton Criteria
2 mins
Tay-Sachs Disease
- Pathophysiology
- Autosomal Recessive
- Hexosaminidase A Deficiency
- Increased GM2 Ganglioside
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Neurodegeneration
- Developmental Delay
- Diagnosis
- Onion Skin Lysosomes
1 min
Niemann-Pick Disease
- Pathophysiology
- Autosomal Recessive
- Sphingomyelinase Deficiency
- More Common in Ashkenazi Jewish Population
- Signs and Symptoms
- Cherry Red Spot on Macula
- Hepatosplenomegaly
- Neurodegeneration
- Diagnosis
- Foam Cells
1 min
Gauchers Disease
- Pathophysiology
- Autosomal Recessive
- Beta Glucocerebrosidase Deficiency
- Diagnosis
- Lipid-laden Macrophages
- Crumpled Tissue Paper
- Signs and Symptoms
- Osteoporosis
- Bone Crises
- Aseptic Necrosis of Femur
- Erlenmeyer Flask Deformity
- Hepatosplenomegaly
- Pancytopenia
2 mins
Fabry's Disease
- Pathophysiology
- X-linked Recessive
- Alpha-galactosidase A Deficiency
- Increased Ceramide trihexoside
- Early Signs and Symptoms
- Decreased Sweating (Hypohidrosis)
- Angiokeratoma
- Episodic Peripheral Neuropathy
- Late Signs and Symptoms
- Cardiovascular Disease
- Renal Failure
1 min
Hurler Syndrome
- Pathophysiology
- Autosomal Recessive
- Mucopolysaccharidoses
- Alpha-L-Iduronidase Deficiency
- Increased Heparan Sulfate
- Increased Dermatan Sulfate
- Signs and Symptoms
- Hepatosplenomegaly
- Developmental Delay
- Gargoylism
- Corneal Clouding
- Airway Obstruction
2 mins
Hunter Syndrome
- Pathophysiology
- X-linked Recessive
- Mucopolysaccharidoses
- Iduronate Sulfatase Deficiency
- Increased Dermatan Sulfate
- Increased Heparan Sulfate
- Signs and Symptoms
- No Corneal Clouding
- Aggressive Behavior
1 min
Krabbe Disease
- Pathophysiology
- Autosomal Recessive
- Galactocerebrosidase Deficiency
- Increased Psychosine
- Signs and Symptoms
- Developmental Delay
- Peripheral Neuropathy
- Optic Atrophy
- Diagnosis
- Globoid Cells
1 min
Metachromatic Leukodystrophy
- Pathophysiology
- Autosomal Recessive
- Arylsulfatase A Deficiency
- Increased Cerebroside Sulfate
- Signs and Symptoms
- Demyelination
- Ataxia
- Dementia
1 min
Von Gierke Disease
- Pathophysiology
- Autosomal Recessive
- Type I Glycogen Storage Disease
- Glucose-6-Phosphatase Deficiency
- Signs and Symptoms
- Increased Glycogen in Liver
- Hepatomegaly
- Enlarged Kidneys
- Severe Fasting Hypoglycemia
- Increased Triglycerides
- Increased Uric Acid (Gout)
- Increased Lactic Acid
- Doll-like Facies
- Treatment
- Continuous Oral Glucose (or Cornstarch)
- Avoid Fructose and Galactose
2 mins
Cori Disease
- Pathophysiology
- Type III Glycogen Storage Disease
- Deficiency of Alpha 1, 6 Glucosidase
- Debranching Enzyme
- Limit-Dextrin Accumulation (In Cytosolic Structures)
- Signs and Symptoms
- Hypoglycemia
- Muscle Weakness
- Hypotonia
- Stunted Growth
- Hepatomegaly
- Diagnosis
- Normal Blood Lactic Acid Levels
- Gluconeogenesis Intact
- Increased LFT's
- Increased Creatine Kinase (CK/CPK)
- Treatment
- Continuous Feeding
- High Protein Diet
- Cornstarch (Uncooked)
4 mins
McArdles Disease
- Pathophysiology
- Type V Glycogen Storage Disease
- Muscle Glycogen Phosphorylase Deficiency
- Signs and Symptoms
- Increased Glycogen in Muscle
- Painful Muscle Cramps
- Myoglobinuria
- Normal Lactic Acid
- Treatment
- Vitamin B6
2 mins
