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 “pencil-in-cup” 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 ⁄3 of patients with psoriasis
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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
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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
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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
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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
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McCune-Albright Syndrome
G protein Signaling 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
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Modes of Inheritance
Autosomal Dominant
Autosomal recessive
X-linked recessive
X-linked Dominant
Mitochondrial Inheritance
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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
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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
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Pyruvate Metabolism
Glucose
Glycolysis
Pyruvate
Alanine Aminotransferase (ALT)
Alanine
Pyruvate carboxylase
Oxaloacetate
Pyruvate dehydrogenase (PDH)
Acetyl-CoA
Lactic Acid Dehydrogenase (LDH)
Lactate
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Fructose Metabolism
Fructose
Fructokinase
Fructose-1-P
Aldolase B
Glyceraldehyde
Glycerol
Triose Kinase
Dihydroxyacetone-P
Glyceraldehyde-3-P (G3P)
Glycolysis
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Galactose Metabolism
Galactose
Galactokinase
Aldose Reductase
Galactitol
Galactose-1-P
Galactose-1-phosphate Uridyltransferase
UDP-Galactose
UDP-Glucose
Glucose-1-P
Glycolysis/Glycogenesis
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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
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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
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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
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3 mins
Bicarbonate (HCO3-) Lab Value
22 - 28 mEq/L
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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
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5 mins
Streptococcus bovis (Group D streptococci NonEnterococcus)
Gram ⊕ cocci, colonizes the gut.
Bile Resistant
S gallolyticus (S bovis biotype 1) causes
Bacteremia (bacteria in blood)
Subacute Endocarditis in Colon Cancer Patients
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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
“Floppy baby” with marked hypotonia
Tongue fasciculations
Death by 7 months
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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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