Matthew Shared "Carlos' Creations" - 147 Picmonics

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Carlos' Creations

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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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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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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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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Lactobacillus
Gram positive
Facultative Anaerobe
Normal Vaginal Flora
Maintains Low pH (3.5-4.2) inhibiting growth of pathogenic organisms
Antibiotics kill normal flora and Raise pH
Rise of pH makes conditions favorable for Yeast, such as Candida
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Arnold-Chiari (Chiari II) Malformation
Herniation of cerebellar vermis through foramen magnum
Aqueductal stenosis
Lumbosacral Myelomeningocele
Hydrocephalus
Paralysis
Increased susceptibility in Ehlers-Danlos and Marfan
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Syringomyelia
Cystic cavity (syrinx) within central canal of spinal cord
Fibers crossing in anterior white commissure (spinothalamic tract) are typically damaged first
Results in a “cape-like,” bilateral loss of pain and temperature sensation in upper extremities
Fine (deep) touch sensation is preserved
Associated with Chiari I malformation
Most common at C8–T1
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Frontal Lobe Brain Lesion
Disinhibited Behavior
Deficit in Concentration
Deficit in Orientation
Deficit in Judgment
Reemergence of primitive reflexes
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Nondominant (Right) parietal cortex lesion
Hemineglect if lesion in nondominant (right) hemisphere
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Dominant (Left) parietal cortex lesion (Gerstmann Syndrome)
Agraphia
Acalculia
Finger Agnosia
left-right disorientation
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Pseudotumor cerebri (Idiopathic intracranial hypertension)
Increased ICP (Intracranial Pressure) with no apparent cause on imaging
Risk Factors
Being a woman of childbearing age
Obesity
Excessive Vitamin A
Danazol
Tetracycline
Symptoms/Findings
Headache
Diplopia
No change in Mental Status
Papilledema
Increased Opening Pressure
Treatment
Weight loss
Acetazolamide
CSF shunt
Topiramate
Lumbar Puncture
CN II fenestration surgery
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