Chronic Conditions

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Chronic Conditions

• Genetic/inherited
• Congenital
• Metabolic
• Degenerative
• Infectious

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Klinefelters Syndrome

• Feminization due to extra X chromosome
• Tall, small penis and testicles, underdeveloped
  secondary sex X-er
• Infertile, impaired learning abilities

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Management of K/S

• Hormone therapy but fertility is NOT restored by
  testosterone therpay

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ii. Turners Syndrome

• Occurs only in females (1 in 5,000) with absence
  of second X Chromosome
• Equivalency to Klinefelters infertility,
  diminished secondary sex X-er

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Short Stature, Webbed Neck, Lack of Secondary Sex
X-er, Hollow Chest, No menstruation, Low
hairline, droopy eyelids
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SuperMasculinity

• RAM FOOTBALL, 2005

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SuperMasculinity
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SuperMasculinity Slightly taller for most
females and more aggressive
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SuperMasculinity

• RAM Football Alumni, 2035

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Cystic Fibrosis (inherited)

• Affects children with 1 in 2,00 Births life
  expectancy up to age 30 important bodily
  functions are disrupted like digestive enzymes
  increased mucous production and conservation of
  electrolytes.
• Serious problems with respiration and digestion

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C.F.
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C.F.
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Prevention, DX, MGT

• Usually Dx in children with combination of
  symptoms poor growth, foul smelling stools,
  chronic coughing/wheezing, recurrent pneumonia,
  nasal polyps enlarged fingertips, skin that has a
  salty taste.
• Dx is through blood test Incurable, life
  shortening, special diets developed to support
  weight and maintain growth
• Needs respiratory therapy, inhaled antibiotics,
  vaccines and drug combos - ??gene therapy??

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Tay Sachs Disease (inability to metabolize fats)

• Rarest of genetic diseases seen in Eastern
  European Jews

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Tay Sachs

• Enlargement of the head

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T.S.

• Children may appear normal at birth, but signs of
  neurological abnormalities develop by age 6
• Includes blindness, deafness, muscle atrophy,
  paralysis and inability to swallow
• SYMPTOMS Slurred speech, cramps, tremors and
  sometimes mental illness
• Deaths usually occur around age 15 (lipids lodged
  in neural pathways of the brain

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Sickle Cell Anemia

• Abnormal hemoglobin
• More prominent in Blacks
• Shortened life expectancy with
• Periods of pain and impairment
• Crescent shaped RBC unable to diffuse through
  capillaries body removes cells which leads to
  anemia

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S.C.A

• Impaired lung function Congestive heart failure
  gallbladder infections bone changes,
  abnormalities of skin and eyes
• Px lives up to 50 years of age

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Prevention/Dx/Treatment

• Easily diagnosed with symptoms appearing after
  two years of age via blood test
• MGT by physical and occupational therapy
• Disease is irreversable
• If disease is found in woman, it is through
  genetic mutation and not inherited

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Congenital Abnormalities

• Abnormalities present at birth due to tissue
  changes during embryonic development
• Forms early in PG ranging in degree of severity
• Causes considered MULTI-FACTORAL genetics and
  environment

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