Carlos Shared "Carlos' Creations" - 146 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
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
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 ⊕ 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
- “Floppy baby” 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
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
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
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
Nondominant (Right) parietal cortex lesion
- Hemineglect if lesion in nondominant (right) hemisphere
Dominant (Left) parietal cortex lesion (Gerstmann Syndrome)
- Agraphia
- Acalculia
- Finger Agnosia
- left-right disorientation
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
Communicating Hydrocephalus
- Decreased Absorption of CSF by arachnoid granulations
- Arachnoid scarring post-meningitis
- Increased ICP (Intracranial Pressure)
- Papilledema
- Hernia
