Carlos Shared "Master List for Adam" - 129 Picmonics
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Master List for Adam
Psoriatic Arthritis
- Associated with skin psoriasis and nail lesions.
- Asymmetric and patchy involvement (Image A) and Dactylitis and âpencil-in-cupâ deformity of DIP on x-ray (Image B)
- Negative Rheumatoid Factor
- HLA-B27 Association
- Dactylytis (sausage fingers)
- Increased ESR
- Pencil-in-cup appereance deformity on xray
- Treat with NSAIDS and DMARDs
- Seen in fewer than 1 â3 of patients with psoriasis
Type II Hypersensitivities
- Autoimmune Hemolytic Anemia
- Pernicious anemia
- Idiopathic thrombocytopenia purpura
- Erythroblastosis fetalis (Hemolytic disease of the newborn)
- Acute Hemolytic Transfusion reaction
- Rheumatic fever
- Goodpasture's Syndrome
- Bullous Pemphigoid
- Pemphigus vulgaris
- Graves' Disease
- Myasthenia Gravis
- Hyperacute Transplant Rejection
Xeroderma Pigmentosum
- Pathophysiology
- Defective Nucleotide Excision Repair
- Complications
- Extreme Light Sensitivity
- Dark Freckles on Skin
- Pale, Dry Skin
- Susceptible to UV Rays A and B
- Corneal Ulcers
- Increased Risk of Skin Cancer
- Some Patients Present Progressive Neurodegeneration
2 mins
I-cell disease
- Mechanism/Cause
- Decrease in Mannose-6-Phosphate
- Defect in Phosphotransferase
- Proteins are excreted extracellulary
- High Plasma levels of lysosomal enzymes
- Failure of cis Golgi to phosphorylate Mannose residues
- Symptoms/Findings
- Clouded Corneas
- Often fatal in Childood
- Coarse Facies
- Restricted joint movement
- Also known as Mucolipidosis Type II
Menkes Disease
- pathophysiology
- Connective tissue disease
- X-linked recessive
- Problem with collagen cross-linking
- Impared Copper Absorption and Transport
- Due to defective Menkes protein (ATP7A)
- symptoms
- Decreased activity of Lysyl Oxidase
- Brittle, Kinky Hair
- Hypotonia
- Growth Retardation
McCune-Albright Syndrome
- Gs-protein activating mutation
- Unilateral café-au-lait spots with ragged edges
- Polyostotic Fibrous Dysplasia
- At Least One Endocrinopathy
- Precocious puberty
- Lethal if mutation occurs before fertilization (affecting all cells), but survivable in patients with mosaicism
Modes of Inheritance
- Autosomal Dominant
- Autosomal recessive
- X-linked recessive
- X-linked Dominant
- Mitochondrial Inheritance
Duchenne and Becker Muscular Dystrophy
- Duchenne
- Frameshift Mutation
- X-linked recessive
- Progressive myofiber damage
- Truncated or absent dystrophin protein
- Muscle Weakness. Weakness begins in pelvic girdle muscles and progresses superiorly.
- Motor Problems
- Pseudohypertrophy of calf muscles due to fibrofatty replacement of muscle
- Onset before 5 years of age
- Gower Sign
- Waddling Gait
- Loss of Ambulation
- Dilated cardiomyopathy common cause of death
- Respiratory Failure
- Myonecrosis
- Increased CPK and Aldolase
- Confirmed with Western Blot and Muscle Biopsy
- Becker
- X-linked disorder typically due to nonframeshift deletions in dystrophin gene (partially functional instead of truncated)
- Becker is less severe and caused by Pinpoint missense mutation
- Onset in adolescence or early adulthood
Arsenic Poisoning
- Symptoms/Findings
- Vomiting
- Rice-water stools
- Garlic breath
- Can be found in Pesticides and Contaminated water
- Carcinogen
- Angiosarcoma
- Lung Cancer
- Squamous Cell Carcinoma of the Lung
- Treatment
- Dimercaprol
- Succimer
Pyruvate Metabolism
- Glucose
- Glycolysis
- Pyruvate
- Alanine Aminotransferase (ALT)
- Alanine
- Pyruvate carboxylase
- Oxaloacetate
- Pyruvate dehydrogenase (PDH)
- Acetyl-CoA
- Lactic Acid Dehydrogenase (LDH)
- Lactate
Fructose Metabolism
- Fructose
- Fructokinase
- Fructose-1-P
- Aldolase B
- Glyceraldehyde
- Glycerol
- Triose Kinase
- Dihydroxyacetone-P
- Glyceraldehyde-3-P (G3P)
- Glycolysis
Galactose Metabolism
- Galactose
- Galactokinase
- Aldose Reductase
- Galactitol
- Galactose-1-P
- Galactose-1-phosphate Uridyltransferase
- UDP-Galactose
- UDP-Glucose
- Glucose-1-P
- Glycolysis/Glycogenesis
Sorbitol Metabolism
- SORBITOL METABOLISM
- Glucose
- Aldose Reductase
- Sorbitol
- Sorbitol Dehydrogenase
- Fructose
- Has Sorbitol Dehydrogenase
- Liver
- Ovaries
- Seminal vesicle
- Lacks Sorbitol Dehydrogenase
- Lens and Retina
- Kidney
- Schwann Cell
- SORBITOL DEHYDROGENASE DEFICIENCY
- Cataracts
- Diabetes
- Retinopathy
- Glomerular Disease
- Peripheral Neuropathy
Cahill and Cori Cycle
- Protein Lysis
- Amino Acids
- α-Ketoacids
- Energy
- α-Ketoglutarate
- Glutamate
- ALT
- Alanine
- Alanine in Blood
- Alanine
- ALT
- Pyruvate
- Glucose
- Glucose
- Glucose
- Pyruvate
- Lactate
- Lactate
- Lactate
- α-Ketoglutarate
- Glutamate
- GDH
- α-Ketoglutarate
- NH4
- Urea
- Kidney
- Urine
- AST
- α-Ketoglutarate
- Oxaloacetate
- Aspartate
- NH3
- Muscle to Blood to Liver
Hyperchylomicronemia (Type I Familial Dyslipidemia)
- INHERITANCE
- Autosomal Recessive
- PATHOGENESIS
- Lipoprotein Lipase Deficiency (LPL)
- Altered Apolipoprotein C-II (Apo C-II)
- Lab Findings
- Increased Chylomicrons
- Increased Cholesterol
- Increased Triglycerides
- Symptoms/Findings
- Pancreatitis
- Hepatosplenomegaly
- No Increased Risk for Atherosclerosis
- Eruptive/Pruritic Xanthomas
- Milky White Appearance of Blood When Drawn
3 mins
Bicarbonate (HCO3-) Lab Value
- 22 - 28 mEq/L
Kartagener Syndrome (Primary Ciliary Dyskinesia)
- inheritance pattern
- Autosomal Recessive
- pathogenesis
- Immotile Cilia Due to a Dynein Arm Defect
- Symptoms
- Decreased Male and Female Fertility
- Immotile Sperm
- Dysfunctional Fallopian Tube Cilia
- Increased Risk of Ectopic Pregnancy
- Bronchiectasis
- Recurrent Sinusitis
- Chronic Ear Infections
- Conductive Hearing Loss
- Situs Inversus (Dextrocardia on Chest X-Ray)
- SCreening
- Decreased Nasal Nitric Oxide Used as Screening Test
5 mins
Streptococcus bovis (Group D streptococci NonEnterococcus)
- Gram â cocci, colonizes the gut.
- Bile Resistant
- S gallolyticus (S bovis biotype 1) causes
- Bacteremia (bacteria in blood)
- Subacute Endocarditis in Colon Cancer Patients
Poliomyelitis and Werdnig-Hoffmann disease (Spinal Muscular Atrophy)
- Degeneration of anterior horns of spinal cord
- LMN Lesion Only
- Poliomyelitis
- Asymmetric weakness/paralysis
- Fever
- Fatigue
- Headache
- Pain in Limbs
- Stiff Neck
- Vomiting
- Slight raise in Protein in CSF
- Increased WBC in CSF
- Werdnig-Hoffmann
- Autosomal Recessive
- Symmetric Flaccid Paralysis
- âFloppy babyâ with marked hypotonia
- Tongue fasciculations
- Death by 7 months
Hepatitis E (HEV) - RNA Hepevirus
- Fecal-Oral
- Epidemics from contaminated water during flooding
- High Mortality in Pregnant Women
- Non-enveloped (naked virus)
- Single-stranded RNA Virus
- Increased LFT's
- Jaundice
- Fever
- Patchy Necrosis on Liver Biopsy
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