a.
b.
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Chapter #12 Managing Chronic Conditions
Genetic/inherited
Congenital
Metabolic
Degenerative
Infectious
Chronic Disease Prevention closely tied to lifestyle choices.
A. Genetic/inherited Conditions
- occur in three ways
i.
ii.
iii.
abnormal genes passed on ___________
mutation of normal cells at early stage of replication, then
passed on with __________
abnormal number of ___________
-consistent records are not kept or underestimated
- ___________ difficult to determine
a. Abnormal number of sex chromosomes
Normal is ______ chromosomes – 23 pairs
Make have 44 _____
Female have 44_____
i. Klinefelter’s Syndrome – abnormal number of sex
chromosomes which usually occurs in _____ with at 44XXY
Manifestation – tall, very thin, breast enlargement, small penis
and testicles, underdeveloped secondary sex characteristics,
infertile, impaired learning ability
___________due to extra X chromosome
Prevention/Dx/MGT
Hormone therapy; but fertility is ___ restored by testosterone
therapy
ii. Turner’s Syndrome
Occurs in _______ (1 in 5,000) with 44X0 – absence of second
X chromosome
Equivalency to ________ – infertility, diminished secondary
sex characteristics
iv. Supermasculinity
1 in 1,000 male births with 44XYY – slightly taller and more
____________
v.
Cystic Fibrosis (inherited)
Affects children with 1 in 2,000 Births – life expectancy up to
age ____– important bodily functions are disrupted like
digestive ________ – increased mucous production and
conservation of electrolytes – Serious problems with
__________ and digestion
Prevention/Dx/MGT
Usually Dx in _______ 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 a _______ test – Incurable, life-shortening;
special diets developed to support weight and maintain growth
Needs include respiratory therapy, inhaled antibiotics, vaccines
and drug combos- On the horizon is __________
VI.Tay Sach’s Disease (inability to metabolize fat)
- _____of genetic diseases – seen in Eastern European _____
- children appear normal at birth but signs of neurological
abnormalities develop by age 6
- includes blindness, deafness, muscle ______, paralysis and
inability to swallow
- Symptoms – also include _______speech, cramps, tremors
and sometimes mental illness
- Death usually occurs around age 15 (______ lodged in brain)
Prevention, Dx and MGT
- have carrier status detected through genetic testing
VII. Sickle Cell Anemia
- abnormal __________– more prominent in _______
- shortened life expectancy with periods of pain and
impairment
- 8% of Blacks carry this trait
- ________ shaped RBC unable to diffuse through capillaries
- Body removes cells quickly leading to ________
- Results in impaired lung function, _________ heart failure,
gallbladder infections, bone changes, abnormalities of skin
and eyes
- Px lives up to_____ years of age
Prevention/Dx/Treatment
- easily diagnosed with symptoms appearing after two years of
age via blood test
- MGT by physical and occupational therapy
- Disease is ___________
- If disease if found in a woman, it is through genetic mutation
and not inherited
B. CONGENTIAL ABNORMALITIES
- abnormalities present at birth – due to tissue changes during
embryonic development
- forms early _____________ranging in degree of severity
- causes considered multi-factoral – genetics and environment
i.
Clubfoot
1 in 1,000 with curved foot and prominent arches
possibly caused by early _____________
Prevention/Dx/ MGT
-manipulating feet with plaster casts
- tendon surgery, multiple splintings/castings
- stretching exercises
ii.
-
Cleft Palate/Cleft Lip
failure of lip and roof of mouth to ______
1 in 800 births with cause unknown
possibly certain medications (___________)
Use of alcohol and smoking
Corrected with surgeries
Prevention, Dx, MGT
- Dx at delivery with treatment determined by a number of
specialists
- Lip surgery at 3-4 months
- Cleft palate done before 2nd birthday
- If nasal and throat structures are malformed – more surgery
iii. Patent Foramen Ovale (PFO)
- 1 in 5 births
- hole ________ ventricles does not close completely
- it is rarely identified and not harmful unless there is a ______
of blood “Blue” blood or “blue” baby
- possible cyanosis and heart ______
Prevention, Dx, MGT
- no treatment needed unless other heart abnormalities exist
- possible problems with ________ changes (scuba diving,
planes, etc)
iv. Scoliosis
-abnormal spine _____________
- no known cause
- begins as curvature to the side
- entire _________ Cavity can be affected – compress heart/lungs
Prevention/Dx/MGT
- screening begins in elementary school
- treated by orthopedic surgeons – (?chiropractors?)
a. do nothing
b. use a brace (25-30 degrees)
c. undergo surgery > 45 degrees)
C. METABOLIC DISORDERS
- Caused by boy’s inability to control _______processes which
results in abnormal functions and genetic predispositions
i.
-
Non-insulin dependent diabetes milletus (Type _)
problem with glucose ________
a genetic predisposition with insulin levels
triggers mechanism for obesity and inactivity
build-up of glucose in blood – ______________
removal of excess glucose in _______
excessive ________
Prevention/Dx/MGT
- dietary modification
- regular exercise
- borderline is controlled with some oral meds
- monitoring unresolved stress and depression can increase
glucose levels
- generally glucose _________ with RNA receptor at site of
blood diffusion
ii. Insulin-dependent diabetes milletus (Type 1)
- childhood onset
- body produces no ________
Prevention/Dx/MGT
- use of insulin from outside source as body fails to produce
product
- pump or ___________
- use glucometer at home; but future methods may include
inhalation, powdered forms, insulin __________
- the use of insulin is no replacement for sound diet, exercise,
and stress MGT. (diabetes complications – p. 397)
iii. Hypoglycemia – Low Blood Sugar
- headaches, mild confusion, low energy levels, anxiety,
sweating, tremors, behave abnormally
- can be X-er to diabetics or non-diabetics
v.
PKU (Phenylketonuria)
- recessive genetic disorder with inability to convert
phenylalaline to tyrosine which results in effects to
__________system
- twitching, spasms, contractures, restless leg syndrome,
inability to sleep, figidity habits, blank _______
Prevention/Dx/MGT
- all infants tested at birth – cannot eat meat, fish, poultry,
milk, eggs, cheese, dairy, beans, nuts, bakery products
- babies feed ________ formulas, shifts to formulated low
protein foods (through feeding tube)
- fruits, vegetables and some grains
- over time phenylalanine can be added to diet
- restricted diet throughout life
D. Degenerative Diseases
- diagnosed later in life with both functional and structural
wasting
iv. Fibromyalgia
- symptoms include morning stiffness, muscle pain, fatigue,
numbness and tingling, poor sleep, jaw discomfort and
_______ headaches
- altered ___________ regulation, hormonal dysfunction
caused by trigger events such as infection, emotional stress,
physical trauma, thyroid ____________ and connective
tissue disorders
Prevention/Dx/MGT
- reduce stress, avoid infections, check 18 bodily tender points
when discomfort levels are up
- improve sleep with meds
- reduce pain via acupuncture, therapeutic massage
- _____________, calcium citrate and brewer’s yeast
- Condition is chronic with periods of remission
vi. Asthma
- chronic respiratory disease with acute attacks of
breathlessness and wheezing
- chronic airway inflammation (genetic disposition?)
a. _________ asthma
- most common, through __________ conditions such as
pollen, dust, molds, exercise, smoke , certain foods and drugs
can cause a reaction
b. ___________asthma
- caused by stress or frequent respiratory ___________
Prevention/Dx/MGT
- Sound diet, exercise (moderate), stress mgt,
inhalants/_______________, herbal teas
vii. Crohn’s Disease
- form of inflammatory _________disease
- deterioration of intestinal ___________
- symptoms include abdominal pain, fever, diarrhea, weight
loss and rectal ____________
- caused by genetic predisposition, emotional stress and
__________ response to foodstuffs and liquids
Prevention/Dx/MGT
- blood test and GI series, ___________ colon exam, treatment
through medications, surgery may be necessary to remove
obstruction due to ____________ intestinal walls
- Use of _______________controversial
viii. Systemic _______ Erythematosus (SLE)
- autoimmune disorder which attacks body’s own tissues; more
often seen in women during young _________; higher among
___________
- genetic predisposition and emotional stress onset
- symptoms include periods of inflammation, stiffness, fatigue,
pleurisy, discomfort in muscles, skin, joints
Prevention, Dx, MGT
- biopsy of skin rash, prednisone, blood test, Vitamin B6,
amino acid tryptophane
ix. Multiple Sclerosis
- systemic __________ damage with resultant impaired
movement
- mental deterioration
- treatment by reducing severity of symptoms and extending
remission
- often accompanied by __________
x.
Parkinson’s Disease
- loss of muscular __________ with trembling, stiffness in
limbs and trunk, slowness and impaired ____________
- slow progression with DLA after age of _______
- caused by buildup of free ________, environmental toxins
with an inherited predisposition
- (Michael J. Fox)
Prevention/Dx/MGT
- diagnosed by neurologist – meds used to slow development
- some electrode stimulus – TENS – for tremors, __________
xi. Alzheimer’s Disease (AD)
- often confused with mild _______, with person being
forgetful, confused, _________, infantile behavior like
incontinence
Prevention/Dx/MGT
- Medications to prevent _______damage