Pages 221224

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Pages 221-224

• I apologize to all people, famous and not
  famous, referenced in this presentation.
• -Matt

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KEY sexual differentiation diseases

• Start with two duct system
• Mullerian Ducts
• Develop into female genital tract. Need Nothing.
• Mesonephric (Wolffian) Ducts
• Develop into male. Need testosterone.
• XY - Testes
• Sertoli Cells Anti-Mullerian Hormone
• Leydig Cells Testosterone
• Feedback causes decrease in LH

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True Hermaphrodite (pg 401)

• Key word True
• Truth is on the inside
• Truly both male and female inside
• The outside is ambiguous
• either phenotype

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Androgen Insensitivity (pg 401)

• XY Have testes and normal production.
• Make anti-mullerian, and testosterone
• Wolffian Ducts Insensitive, so degenerate.
• Mullerian Ducts Degenerate due to antimullerian
  hormone.
• The testosterone has no affect on development and
  or feedback.
• Development undecended testes or in labia
• Feedback - LH, Testosterone, and Estrogen are
  high.

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5 alpha Reductase (Pg 402)

• male alpha
• is a little
• reduced
• At puberty, see
• Masculinzation of the gentalia

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Cri-du-chat Syndrome (pg 110)
5- appendages on a cat (think chromosome
5) Cats mew Cats eyes Epicanthal
Folds Cats are mean defect in their heart
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Fragile X (pg 109)
Fragile X eXtra large jaw, testes, ears.
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Another Way
Large Ears
Large Jaw
Loves to Cing in G repeatedly (CGG triple
repeat)
Singing and Dancing Not Mentally Sound
William Hung -is Well Hung
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22q11 (pg 110)

• Catch-22
• Cleft Palate
• Abnormal Face
• Thymic Deficiency
• Cardiac Defects
• Hypocalcemia
• Velocardiofacial- Palate, heart, Face
• DiGeorge Syndrome (aberrant 3rd and 4th Branchial
  Pouches)

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Autosomal Dominant (pg 108)

• Two basic types Tumorous and Structural
  defects

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tumorous

• Neurofibromatosis type 1
• Von Recklinghausen Restaurant
• Café-au-lait
• D-Lisch-ous noodules
• Von-Recklinghausen (17 letters for chromosome 17)
• Neurofibromatosis type 2
• Effects things we have two of (eyes and ears)
• Bilateral acoustic neuromas
• Optic gliomas, cataracts

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tumorous

• Adult Polycystic Kidney Disease
• Chromosome 16
• Mutation APKD-1 (90)
• Adults are DOMINANT
• Juvenilles or RECESSIVE
• Associations
• Polycystic Liver
• Berry Aneurysms
• Mitral Valve Prolapse

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Tumerous

• Tuberous Sclerous
• Hypopigmented ash leaf spots
• Cortical and Retinal Hamartomas
• Seizures
• Mental Retardation
• Renal Cysts
• Cardiac Rhabdomyomas.
• Incomplete Penetrance.
• Facial Lesions

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Tuberous Sclerosis (TS)
TS Titos Sibling
Hypopigmented
Facial Lesions
Has a variable Presentation MR
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Tumerous

• Von-Hippel-Lindau
• Hemangioblastomas of the retina/cerebellum/medulla
  
• Bilateral Renal Cell Carcinomas and other tumors.
  
• VHL tumor suppressor gene - chromosome 3
• (von-hippel-lindau is 3 words)

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Tumerous

• Familial Adenomatuous Polyposis
• Early progression to colon cancer
• Deletion on Chromosome 5. 5 letters in polyp.
• APC Gene

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structural

• Familial Hypercholesterolemia
• Lack the LDL receptor
• Atherosclertoitc disease, xanthomas, early MI
• Marfans
• Chris The Dak Loves to Draw/talk/exaggerate
  about His fibril (Fibrillin Gene)
• Chris Openly Shocks (Cardiac, Ocular, Skeletal)

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structural Autosomal Dominant

• Hereditary Spherocytosis
• Defect in Cytoskeleton of RBC
• (spectrin, ankyrin)
• Leads to loss of membrane
• Prone to destruction in Spleen
• (splenectomy helps)
• We also see spherocytosis in Autoimmune hemolytic
  anemias
• increased osmotic fragility.

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structural

• Achondroplasia
• Defect in Fibroblast growth factor receptor 3
• Dwarfism, Short limbs, Heat and Trunk are normal
  size.

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Does not fit

• Huntingtons Disease
• Trinucleotide repeat of CAG
• CAG -Caudate decreases in Ach and Gaba
• Hunting 4 food chromosome 4
• Chorea, dementia, depression

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Autosomal Recessive

• When in doubt pick the disease with the enzyme or
  transporter deficiency.

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Cystic Fibrosis (pg 109)

• Affects multiple systems
• lungs, liver, pancreas
• Loss of fat soluble vitamins
• Failure to thrive
• Chromosome 7 defect
• Pseudomonas S. Aureus infections (nosocomial
  infections)
• Treatment N-acetylecysteine to loosen mucous
  plugs

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X- linked (pg 109)

• Passed from mothers to sons.
• Women affected by random inactivation of X
  chromosome.
• Fragile X, Duchennes muscular dystrophy
  hemophilia A B, Fabrys, G6PD, Hunters Ocular
  albinism, Lesch-Nyhan syndrome, Brutons
  agammaglobulinemia, Wiskott-Aldrich Syndrome.
• GOOD LUCK. Suggestion dont memorize this list.
  Learn the diseases first.

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Triplet Repeat Disorders (pg 109)

• Ever Expanding and Inheritable
• Affect offspring early and greater
• Fragile X- X linked (CGG)
• Huntingtons Autosomal Dominant (CAG)
• Friedrichs Ataxia (GAA)
• Myotonic Dystrophy (CTG)

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Neural Tube Defects (pg 348)

• The longer the word the more stuff that
  herniated.
• Meningo - Menengies
• Myelo Spinal Cord

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Fetal Alcohol (pg 110)

• Alcohol is a teratogen
• 1 cause of congenital malformation is the US
• 3-8 weeks are the worst effect
• Inhibition of Cell migration

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Neoplasia BasicsPremalignant (pg 292)

• Hyperplasia more cells
• Metaplasia cell changes to another type of cell
  (Enviromental Irritation)
• Trachea in Smokers, G-E junction in reflux
• Dysplasia Abnormal growth with loss of cellular
  orientation, shape and size
• Hyperchromatic Nuclei

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Neoplasia BasicsMalginant Changes

• Anaplasia - Abnormal cells lack differentiation
  (primitive)
• Neoplasia clonal proliferation of is
  uncontrolled and excessive
• Metastasis
• Seed and Soil
• Seed is the Tumor
• Soil is Target tissue

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Question 1

• A 25 year old man presents with bilateral hearing
  loss, MRI reveals bilateral tumors within the
  cerebellopontine angles. Surgery is performed,
  and the tumors are removed. Both are found to be
  nuerilemomas (Schwannoma). Which of the
  following is the most likely diagnosis?
• A) Metastatic Disease
• B) Multiple Sclerosis
• C) Neurofibromatosis Type 1
• D) Neurofibromatosis Type 2
• E) Tuberous Sclerosis

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Question 2

• 22-year-old man is evaluated for mitral
  regurgiation due to mitral valve prolapse.
  Examination reveals a tall slender young man with
  long extremities and long tapering fingers.
  Pupillary dilation followed by slit lamp
  examination reveals bilateral dislocation of the
  lenses of the eyes. This patient is potentially
  at increased risk for development of which of the
  following?
• A) Aortic Dissection
• B) Lisch Nodules
• C) Noncaseasting Granulomata
• D) Progressive Dementia
• E) Rapidly progressive renal failure

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Question 3

• A neonate has a prominent defect at the base of
  his spine through which his meninges and spinal
  cord protrude. A failure of which of the
  following processes is the most common cause of
  this type of defect?
• A) Development of the body
• B) Development of the pedicle
• C) Development of the primary vertebral
  ossification centers
• D) Development of the superior articular process
• E) Fusion of the vertebral arches

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Neoplastic Progression Song

• All of the cells how can this be
• They just dont look quite right

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• Is it a cancer I need an answer
• bout size, shape, and hyperchromatic nuclei

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• Its hyperplasia, followed by dysplasia

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• Biopsy will prove, next is Carcinoma insitu

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• Collagenase Turns on,
• Basements Membranes are gone

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• This cancer has gone invasive
• Its now a metastasis

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• Smoking and Gerd Lead to Metaplasia
• Which you know is reversible

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• Anaplasia, a sign of malignancy
• Is a lack of differentiation

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• Its hyperplasia, followed by dysplasia
• Biopsy will prove, next is Carcinoma insitu
• Collagenase Turns on,
• Basements Membranes are gone
• This cancer has gone invasive
• Its now a metastasis
• All of the cells, how can this be
• They just dont look quite right