Module 12 Flashcards
1
Q
Syndrome vs. Disease vs. Disorder?
A
- A disease can be defined as a health condition that has a clearly defined reason behind it.
- A syndrome (from the Greek word meaning ‘run together’) however, may produce a number of symptoms without an identifiable cause. They may suggest the possibility of an underlying disease or even the chances of developing a disease.
- For example: Metabolic Syndrome (AKA Syndrome X) is not a disease. It may indicate an underlying disease like that of type 2 diabetes or a heart disease.
- A syndrome refers to a group of symptoms, while a disease refers to an established condition.
- A disease you can identify some type of pathology behind something
- Syndromes may or may not correlate to some disease
- Metabolic syndrome: obesety, diabetes, high blood pressure, high cholesterol, (can’t call it a disease)
2
Q
Syndrome vs. Disease vs. Disorder?
A
- A disease a condition that is marked by 3 basic factors:
1. An established biological cause behind the condition
2. A defined group of symptoms
3. Consistent change in anatomy due to the condition - A syndrome does not have any of these features. Even the symptoms that are present are usually not consistent, and definitely not traceable to a single cause.
- Disorder – usually when dealing with mental issues. (Generalized Anxiety Disorder)
Usually used when the diagnosis and treatment are harder to pinpoint
3
Q
Down Syndrome
A
- Trisomy 21 with physical and mental disorders
- 80% reach the age of 60
- 5,000 babies born in US per year
- 95% of Down Syndrome
- 1%-Mosaic (Some trisomy, some normal)
- 4%Translocation (Chromosome 14 has extra 21 genes)
- Causes
- Chromosomal disorder (#21)
- Maternal age
- 35 – 1/385
- 40 – 1/106
- 45 – 1/30
- Signs and Symptoms
- Small head with flat facial features
- Slanted eyes
- Single crease in palm of hand
- Heart defects, leukemia (ALL), dementia - 25% over age 35
- May have decreased IQ and speech difficulties
- Testing
- Prenatal care – US or amniocentesis
- Karyotype test
- As women get older their eggs are older as well. The risk of having a child with down syndrome increases significantly Mosaic means that some cells Need to know s/s Microcephaly is small head? Look it up Dementia early onset althimers?
4
Q
Klinefelter’s Syndrome
A
- Causes
- Chromosomal disorder XXY
- Males with an extra ‘X’ chromosome
- Signs and Symptoms
- Both male and female sexual characteristics
- Decreased Testosterone > less body and facial hair, gynecomastia (risk breast CA), weak muscles and bones, shy
- Infertility (95-99% due to low sperm count)
- Impaired language development
- Testing
- Clinical Exam
- Chromosomal testing
- Hormones
- Tx
- Testosterone Replacement Therapy (TRT)
- Language Therapy
-Extra X chromosome
They won’t have ovaries or a uterus
Incidence of breast cancer is very low
Krater willies syndrome
5
Q
Turner’s Syndrome, 45X
A
- 1 in 2500 worldwide female births
- Causes
- Chromosomal disorder > women > X only
- In other words, missing a ‘X’ chromosome
- Signs and Symptoms
- Short stature
- No or irregular menstrual periods
- No breast development, widely spaced nipples
- Infertility
- Low posterior hairline, Webbed neck
- Infants have swollen hands and feet
- Testing
- Clinical
- Chromosomal testing
- Tx
- Hormone Therapy - GH and Estrogen
- Sometime written as 45XO meaning they are missing the other x chromosome
6
Q
45,XO
47, XXY
A
Turner is 45,XO
Klinefelter is 47, XXY
7
Q
Function of GH
A
.
8
Q
Gigantism & Acromegaly – Excess GH
A
- Abnormal secretion of GH
- Gigantism > before closed plates
- Acromegaly > After closed plates
- Causes
- Pituitary adenoma
- Signs and Symptoms
- Enlarged organs and structures
- Hyperglycemia
- GH inhibits peripheral glucose uptake
- GH increases hepatic glucose production
- Results in insulin resistance
- Testing
- GH
- CT
- Tx
- Surgery to remove Pit. Adenoma, meds to block GH
9
Q
Gigantism
A
- GH stimulates development of the long bones of the body
- Giantism: oversecretion of GH; usually the result of a tumor on the pituitary gland
10
Q
Acromegaly
A
- Growth Hormone oversecretion continues after epiphyseal plates have closed
- Occurs in adults
- Bones of hands face and feet are enlarged
11
Q
Dwarfism – GH Deficiency
A
- “Adult height of less than 4 feet 10 inches or less”
- Many different conditions that cause dwarfism
- 70% are achondroplasia (most common form)
- Causes
- Decreased GH (pituitary tumor)
- Achondroplasia (autosomal dominant) > means ‘w/o cartilage’ however, problem is with ossification; spontaneous mutation (7/8) or AD (1/8)
- 1 in 25,000 births worldwide
- Primordial dwarfism > autosomal recessive
- Smaller body size in all stages of life beginning from before birth
- Signs and Symptoms
- Hip deformities
- Clubfoot
- Scoliosis and lordosis
- Testing
- Clinical exam > height percentiles
- Hormones
- X-Ray/CT
- Genetic testing
- Primordial dwarfism is much less common
12
Q
Achondroplasia
A
- Disproportionate head to body
- Short limbs
- Diverging ring finger
- trident appearance
- Intelligence is normal
- Autosomal dominant - older father has a link for new mutation which is passed on to offspring
13
Q
Polycystic Kidney Disease
A
- Kidneys with fluid filled cysts (including tubules and collecting ducts)
- Causes
- Autosomal dominant – onset in adults
- (90% of all PKDs)
- Autosomal recessive – onset right after birth or in childhood
- Autosomal dominant – onset in adults
- Signs and Symptoms
- HTN, pain, abdominal or back mass, hematuria, frequent kidney infections
- Higher risk of cerebral/aortic aneurysms, mitral valve prolapse and diverticulosis
- Testing
- Imaging > CT, US
- Genetic testing
- Polycystic Kidney Disease Info Link
- Multiple cysts in the kidneys everywhere
- Most is autosomal dominant
- Why would a person have high blood pressure? There is low flow in the kidneys so they release renin, when this is released angiotensin two, aldosterone, and ADH all go up which increases blood pressure (HTN)
- This was the case study of the guy with GFR > ? Mustache mexican guy
14
Q
Sickle Cell Anemia
A
- Causes
- Genetic > Autosomal recessive
- African American
- Hb S instead of Hb A (a valine replacing a glutamine in the 6th position of the beta globin chain)
- Sickle Cell trait – 1 allele for Hb S and 1 for Hb A (protection against malaria – Plasmodium parasite – a protazoan)
- Signs and Symptoms
- Sickling of cells > abdominal and bone pain, ulcerations, thrombi, infarcts
- Hemolytic crisis > Jaundice and hematuria
- Splenic sequestration crisis
- Aplastic crisis (RBCs live 10-20 days)
- Lack of oxygen and dehydration increase sickling
- Testing
- Hemoglobin electrophoresis
- Tests for type of Hb (S or A)
- Anemia: Decreased RBCs
- Tx
- Antibiotics, Hydroxyurea (stimulates Hb F)
- A person needs two bad copies in order to get this disease
Hemoglobin f you find at age fetus it is fetal hemoglobin
s/s is pain it will be excruciating pain
Sickle cells can only live about 10-20 days
This is a cause of anemia
One of the hemolytic anemias
hydroxyuria Stimulates production of Hb F
15
Q
Scoliosis
A
- Lateral curvature of the spine
- 98% are apex right thoracic
- Causes
- 3 types
1) Idiopathic – 80%
2) Congenital – Hemivertebrae
3) Teratological – Systemic syndrome - Neuromuscular Cerebal palsy,
- Muscular Dystrophy, Marfan’s syndrome
- 3 types
- Signs and Symptoms
- Uneven height > shoulders, hips, leg length
- Testing
- X-Ray, R/O pathologies
- Tx
- > 25 degrees =>bracing (16 hours/day)
- > 50 degrees =>spinal fusion
