Ryan Shared "M2M" - 110 Picmonics
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M2M
Lesch-Nyhan Syndrome
- X-linked Recessive
- Absence of HGPRT
- Hypoxanthine to IMP
- Guanine to GMP
- Excess uric acid
- Gout
- Retardation
- Self-mutilation
- Choreoathetosis
- PRPP is increased
2 mins
Ornithine Transcarbamylase Deficiency
- Pathophysiology
- Most Common Urea Cycle Disorder
- X-Linked Recessive
- Signs and Symptoms
- Hyperammonemia
- Decreased BUN
- Carbamoyl Phosphate is Converted to Orotic Acid
- Pyrimidine Synthesis Pathway
- Evident in Babies
3 mins
Orotic Aciduria
- Pathophysiology
- Autosomal Recessive
- Defect in UMP Synthase
- De Novo Pyrimidine Synthesis Pathway
- Symptoms
- Increased Orotic Acid in Urine
- Megaloblastic Anemia
- No Response to B12 or Folate
- Non-Hyperammonemic
- Failure to Thrive
- Treatment
- Oral Uridine Monophosphate
2 mins
Severe Combined Immunodeficiency (SCID)
- Both B and T Cell Deficiency
- Recurrent Viral, Bacterial, Fungal, Protozoal Infections
- Defective Interleukin (IL) 2 Receptor
- X-Linked
- Adenosine Deaminase Deficiency
- Failure to Synthesize MHC II Antigens
- Treat with Bone Marrow Transplant
2 mins
Ataxia Telangiectasia
- Pathophysiology
- Autosomal Recessive
- ATM Gene
- Defect in DNA repair
- Signs & Symptoms
- Cerebellar defects
- Spider Angiomas
- Sensitive to Radiation
- Defective Tumor Suppressor Gene
- Increased risk of Cancer, Leukemias, and Lymphomas
- Increased AFP levels
- IgA deficiency
- Repeated sinopulmonary infections
2 mins
Burkitt's Lymphoma
- Adolescents or young adults
- C-myc gene moves next to heavy chain Ig gene
- T 8;14
- Starry sky appearance
- Sheets of lymphocytes with interspersed macrophages
- Jaw lesion in endemic (African) form
- Pelvis or abdomen in non endemic form (American form)
- Associated with EBV
2 mins
Systemic Lupus Erythematosus (SLE) Diagnosis and Clinical Features
- IM DAMN SHARP acronym
- Immunoglobulins
- Malar rash
- Discoid rash
- Antinuclear antibody
- Mucositis
- Neurologic disorders
- Serositis
- Hematologic disorders
- Arthritis
- Renal disorders
- Photosensitivity
2 mins
Systemic Lupus Erythematosus (SLE) Mechanism, Treatment and Complications
- Mechanism and Characteristics
- Systemic Autoimmune Disease
- 9:1 female to male ratio
- Treatment
- Glucocorticoids
- NSAIDS
- Hydroxychloroquine
- Cyclophosphamide
- Complications
- Lupus nephritis
- Libman-Sacks Endocarditis
- Secondary Antiphospholipid Antibody Syndrome
- Other
- Drug-induced lupus
2 mins
Gout Treatment
- Acute (Acute-angle)
- NSAIDs
- Glucocorticoids
- Colchicine
- Impairs Leukocyte Chemotaxis
- Chronic Gout (Crone Goat)
- Inhibit Xanthine Oxidase
- Allopurinol
- Febuxostat
- Inhibit Reabsorption of Uric Acid
- Probenecid
1 min
Gout Disease
- Acute Inflammatory Monoarthritis
- Epidemiology
- Primarily in Males
- Pathophysiology
- Precipitation of Monosodium Urate Crystals
- Underexcretion of Uric Acid
- Overproduction of Uric Acid
- Negatively Birefringent, Needle-Shaped
- Symptoms
- Swollen, Red, Painful Joint
- Asymmetric Joint Distribution
- Podagra
- Tophus
- After Large Meal or Alcohol
2 mins
Gout Disease (DEMO)
- Mechanism
- Acute Inflammatory Monoarthritis
- Symptoms
- Tophus
- Podagra
- Swollen, Red, Painful Joint
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
Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
- Characteristics
- Autosomal Dominant
- Defective DNA Mismatch Repair
- 80% Risk of Colon Cancer Development
- Proximal (Right) Colon
- Type II associated with Endometrial, Ovarian and Skin Cancers
- 3-2-1 Rule
- 3 Relatives with Colon Cancer
- Occurs Across 2 Generations
- 1 Relative Diagnosed < 50 Years Old
- Treatment
- Frequent Screening
- Colectomy
3 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
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
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
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
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
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