Alexander Shared "Genetics" - 27 Picmonics
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Genetics
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
Osteogenesis Imperfecta
- Pathophysiology
- Autosomal Dominant
- Decreased Type I Collagen Production
- Symptoms
- Phenotypically Diverse
- Brittle Bone Disease
- Fractures from Minimal Trauma
- Confused with Child Abuse
- Hearing Loss
- Dental Imperfections
- Blue Sclera
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
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
Achondroplasia
- Mechanism
- Autosomal Dominant
- Advanced Paternal Age
- Most Common Cause of Dwarfism
- Mutation of FGFR3 (Fibroblast Growth Factor Receptor 3)
- Defective Endochondral Ossification
- Symptoms
- Delayed Motor Milestones
- Shortened Limbs with Normal Axial Skeleton Size
- May Develop Hydrocephalus
- Symptoms of Spinal Stenosis
- Normal Life Span and Fertility
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 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 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
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
Phenylketonuria (PKU)
- Pathophysiology
- Decreased Phenylalanine Hydroxylase
- Decreased Tetrahydrobiopterin Cofactor
- Autosomal Recessive
- Tyrosine Becomes Essential
- Phenylalanine Found in Nutrasweet
- Symptoms
- Musty or Mousy Body Odor
- Growth Retardation
- Seizures
- Intellectual Disability
- Hypopigmentation
2 mins
Hemochromatosis Pathophysiology
- Pathophysiology
- Hemosiderin Deposition
- Autosomal Recessive
- HLA-A3
- Secondary to Transfusion Therapy
- Increase Iron
- Increase Ferritin
- Increased Transferrin Saturation
2 mins
Hemochromatosis Signs and Symptoms
- Signs and Symptoms
- Micronodular Cirrhosis
- Hepatocellular Carcinoma
- Diabetes
- Bronze Skin Coloring
- CHF
- Arthropathy
- Testicular Atrophy
- Impotence
2 mins
Muscular Dystrophy
- Mechanism
- X-linked Recessive
- Signs and Symptoms
- Muscle Weakness
- Motor Problems
- Gower Sign
- Large Calves
- Waddling Gait
- Loss of Ambulation
- Consideration
- Cardiac and Respiratory Failure
2 mins
G6PD Deficiency
- X-linked Recessive
- Hemolytic Anemia
- Inflammatory Response
- Fava Beans
- Sulfonamides
- Primaquine
- Anti TB Drugs
- Heinz Bodies
- Bite Cells
- Prevalent Among African Americans due to Increased Malarial Resistance
2 mins
Fragile X
- Pathophysiology
- Trinucleotide Repeat
- CGG Repeats
- FMR1 Gene
- X-linked Dominant
- Signs and Symptoms
- Developmental Delay
- Autism
- Large Ears
- Large Jaw
- Long Face
- Macroorchidism
2 mins
Myotonic Dystrophy
- Pathophysiology
- Autosomal Dominant
- Trinucleotide Repeat
- CTG
- Signs and Symptoms
- Facial Muscle Weakness
- Frontal Balding
- Sustained Grip
- Conduction Defects
- Cataracts
- Selective Atrophy of Type 1 Fibers
- Testicular Atrophy
2 mins
Friedreich's Ataxia
- Trinucleotide Repeat
- GAA Repeat
- Frataxin
- Mitochondrial Dysfunction
- Autosomal Recessive
- Hammertoes
- High Arches
- Kyphoscoliosis
- Lateral Corticospinal Tract
- Posterior Column
- Spinocerebellar Tract
- Type I Diabetes Mellitus
- Hypertrophic Cardiomyopathy
1 min
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
