Reproductive:
endometrial cycle and the occurrence of ovulation- the menstrual cycle consist of
three phases: the follicular/proliferative phase
... [Show More] (postmenstrual), followed by the
luteal/secretory phase (premenstrual), and the ischemic/menstrual phase.
*Ovarian hormones control the uterine (endometrial) events of the menstrual
cycle. During the follicular/proliferative phase of the ovarian cycle estrogen
produced by the follicle causes the endometrium to proliferate (proliferative
phase) and induces the LH surge and progesterone production in the granulosa
layer. During the luteal/secretory phase, estrogen maintains the thickened
endometrium, and progesterone causes it to develop blood vessels and secretory
glands (secretory phase). As the corpus luteum “starved” endometrium
degenerates and sloughs off, causing menstruation, the ischemic/menstrual
phase.
uterine prolapse- the descent of the cervix or entire uterus into the vaginal canal
due to weakened pelvic fascia and musculature and poor support from the
vaginal muscles and fascia.
polycystic ovarian syndrome- most common cause of anovulation and ovulatory
dysfunction in women. Defined as having at least two of the following three
features: irregular ovulation, elevated levels of androgens (e.g., testosterone),
and the appearance of polycystic ovaries on ultrasound. PCOS is associated with
metabolic dysfunction, including dyslipidemia, insulin resistance, and obesity.
One of the most common endocrine disturbances affecting women, especially
young women, and is a leading cause of infertility in the U.S. Strong genetic
component to PCOS, various features of the syndrome may be inherited. PCOS
patients are three times as likely to have insulin resistance, higher for obese
women. Tend to have increased leptin levels. Symptoms within 2 years of puberty
& include: dysfunctional bleeding or amenorrhea, hirsutism, acne, acanthosis
nigricans, and infertility. 60% are obese. Increased risk for gestational DM,
pregnancy-induced HTN, preterm birth, and perinatal mortality.
testicular cancer and conditions that increase risk- most common cancer in men,
age 15-35. Slightly more common on the right than on the left. 90% of testicular
cancers are germ cell tumors arising from the male gametes. Two types:
Seminomas-most common, least aggressive, make up 30-35% of testicular
cancers & Nonseminomas-include embryonal carcinomas, teratomas, and
choriocarcinomas, which are the most aggressive, but rare form of testicular
cancer. Risk factors include: genetic predisposition, history of cryptorchidism,
abnormal testicular development, HIV, AIDS, Klinefelter syndrome, and history of
testicular cancer. Can arise from specialized cells of the gonadal stroma-these
tumors, which are named for their cellular origins, are Leydig cell, Sertoli cell,
granulosa cell, and theca cell tumors and constitute less than 10% of all testicular
cancers.
symptoms that require evaluation for breast cancer- painless lump, palpable
nodes in the axilla, retraction of tissue (dimpling), chest pain, dilated bloodvessels, edema, edema of the arm, hemorrhage, local pain, nipple/areolar eczema,
nipple discharge in non-lacting woman, pitting of the skin (like surface of an
orange peel), reddened skin, local tenderness and warmth, skin retraction,
ulceration.
signs of premenstrual dysphoric disorder- One of these symptoms must be
present for a diagnosis: marked affective lability, marked irritability or anger or
increased interpersonal conflicts, marked anxiety, tension. One of these must
also be present: decreased interest, difficulty concentrating, easy fatigability, low
energy, increase or decrease in sleep, feelings of being overwhelmed, physical
symptoms, such as: breast tenderness, muscle or joint aches, bloating or weight
gain. (Greater than 5 of these symptoms occur during the week before menses
onset, improve within a few days after menses onset, and diminish in the week
postmenses).
dysfunctional uterine bleeding- bleeding that is abnormal in duration, volume,
frequency, or regularity; and has been present for the majority of the previous 6
months. May be acute or chronic. PALM-COEIN System for classification of
abnormal uterine bleeding: PALM-structural causes: Polyp, Adenomyosis,
Leiomyoma, Malignancy. COEIN-nonstructural causes: coagulopathy, ovulatory
dysfunction, endometrial, iatrogenic, not yet classified. Increased endometrial
bleeding is correlated with a change from ovulatory to anovulatory cycles due to
high estrogen levels.
pathophysiology of prostate cancer- More than 95% of prostatic neoplasms are
histologically similar to adenocarcinomas and rely on androgen-dependent
signaling for their development and progression. Most of these neoplasms occur
in the periphery of the prostate. Prostatic adenocarcinoma is a heterogeneous
group of tumors with a diverse spectrum of molecular and pathologic
characteristics, and therefore clinical behaviors and challenges. The biologic
aggressiveness of the neoplasm appears to be related to the degree of
differentiation rather than the size of the tumor. Testicular testosterone provides
the main source of androgens in the prostate and is the major circulating
androgen, whereas DHT predominates in prostate tissue and binds to the
androgen receptors with greater affinity than does testosterone. Androgen
production outside of the testes, or extra testicular sources. Testosterone is
converted to dihydrotestosterone, DHT is the most potent intraprostatic
androgen.
HPV and the development of cervical cancer- almost exclusively caused by
cervical human papillomavirus (HPV) infection. HPV strains 16 & 18 are most
often implicated as causing 70% of all cervical cancers and also contribute to
many vaginal, vulvar, penile, anal, and oropharyngeal cancers. Most HPV
infections are cleared from the immune system; vast majority of infections do not
cause cervical cancer. Screening before age 21 not recommended. Women with
multiple sex partners are more likely to be exposed to high-risk HPV, but women
with only one lifetime sexual partner can also become infected. Transformation
zone is where the two cell types of squamous epithelium cells and columnarepithelial cells come together and this is where carcinoma in situ is most likely to
develop. PAP test or HPV screening necessary for early detection; 90% can be
detected by these. Viral DNA becomes integrated into the genomic DNA of the
infected basal cell of the cervix and directs the persistent production of viral
oncogenes. Persistence of infection with high-risk HPV is a prerequisite for the
development of cervical intraepithelial neoplasia, lesions, and invasive cervical
cancers.
Endocrine:
body’s process for adapting to high hormone levels- Feedback systems. Most
hormone levels are regulated by negative feedback, in which tropic hormone
secretion raises the level of a specific hormone. The elevated level of the specific
hormone then causes negative feedback, decreasing secretion of the tropic
hormone. Positive feedback systems, in which elevated hormone levels increase
a response which then further increases hormone secretion, is seen most often in
reproductive hormones. Negative feedback is the most common & occurs when a
chemical, neural, or endocrine response decreases the subsequent synthesis and
secretion of a hormone. Positive feedback occurs when a neural, chemical, or
endocrine response increases the synthesis and secretion of a hormone. Positive
feedback also occurs when an increased hormone level further increases the
synthesis and secretion of that same hormone. The sensitivity or affinity of the
target cell to a particular hormone is related to the concentration of receptors per
cell: the more receptors, the higher the affinity or the more sensitive the cell is to
the stimulating effects of the hormone. Thus the cell can adjust its sensitivity to
the concentration of the signaling hormone. hormone is distributed throughout
the body, only target cells with specific receptors for that hormone are affected.
Target cell response depends on blood levels of the hormone, the concentration
of target cell receptors, and affinity of the receptor for the hormone. Hormone
receptors of the target cell have two main functions: (1) to recognize and bind
with high affinity to their particular hormones and (2) to initiate a signal to
appropriate intracellular effectors. See Chapter 1 for cell signaling pathways,
particularly.
Cushing’s Syndrome- the clinical manifestations resulting from chronic exposure
to excess endogenous cortisol and is more common in women. Cushing’s
disease is excess endogenous secretion of ACTH. ACTH dependent
hypercortisolism (about 80%) results from overproduction of pituitary ACTH by a
pituitary adenoma (most common and can occur at any age) or by an ectopic
secreting nonpituitary tumor, such as a small cell carcinoma of the lung (more
common in older adults). ACTH-independent hypercortisolism (about 20%) is
caused by cortisol secretion from a rare benign or malignant tumor of one or both
adrenal glands (more common in children). A Cushing-like syndrome may
develop as a side effect of long-term pharmacologic administration of
glucocorticoids. With ACTH-dependent hypercortisolism, the excess ACTH
stimulates excess production of cortisol and there is loss of feedback control of
ACTH secretion. Whatever the cause, two observations consistently apply to
individuals with Cushing’s syndrome: 1.) They don’t have diurnal or circadiansecretion patterns of ACTH and cortisol, and 2.) They do not increase ACTH and
cortisol secretion in response to a stressor. In individuals with ACTH-dependent
hypercortisolism, secretion of both cortisol and adrenal androgens is increased,
and corticotropin-releasing hormone (CRH) secretion is inhibited. Weight gain is
the most common feature; “moon face” due to excess sodium and water
retention, truncal obesity, buffalo hump. DM develops in approximately 20% of
individuals with hypercortisolism. Polyuria is a manifestation of hyperglycemia
and resultant glycosuria. Differentiation among pituitary, ectopic, and adrenal
causes is essential for effective treatment.
causes of hypoparathyroidism- most commonly caused by damage to or removal
of the parathyroid glands during thyroid surgery and occurs because of the
anatomic proximity of the parathyroid glands to the thyroid. Also associated with
genetic syndromes, including familial hypoparathyroidism and DiGeorge
syndrome (velocardiofacial syndrome), and an idiopathic or autoimmune form of
the disease. A lack of circulating PTH causes depressed serum calcium levels
and increased serum phosphate levels. In the absence of PTH, resorption of
calcium from bone and regulation of calcium reabsorption from the renal tubules
are impaired. Therefore phosphate rea sorption by the renal tubules is increased,
causing decreased renal phosphate excretion and hyperphosphatemia.
Hypomagnesemia also can cause a decrease in PTH secretion and function,
because it inhibits PTH secretion. When serum magnesium levels return to
normal, however, PTH secretion returns to normal, as does the responsiveness of
peripheral tissues to PTH. Hypomagnesemia may be related to chronic
alcoholism, malnutrition, malabsorption, increased renal clearance of magnesium
caused by the use of aminoglycoside antibiotics or certain chemotherapeutic
agents, or prolonged magnesium-deficient parenteral nutritional therapy.
lab results that point to primary hypothyroidism- increased levels of TSH, and
decreased levels of TH (total T3 and both total and free T4). When hypothyroidism
is caused by pituitary deficiencies, serum TSH levels are decreased or are
inappropriately normal in the face of low levels of TH.
pathophysiology of thyroid storm- usually occurs in individuals who have
undiagnosed or partially treated severe hyperthyroidism and who are subjected
to excessive stress from other causes. These causes may include infection,
pulmonary or cardiovascular disorders, trauma, burns, seizures, surgery
(especially thyroid surgery) obstetric complications, emotional distress, or
dialysis. The symptoms of thyroid storm are caused by the sudden release and
increased action of thyroxine (T4) and tri-iodothronine (T3) exceeding metabolic
demands. Without treatment, death can occur quickly. One hypothesis suggests
the incidence of thyroid storm is due to the rapid increase in thyroid hormone
levels, rather than the absolute hormone level that occurs during thyroid surgery,
following radioactive iodine treatment, after sudden discontinuation of the
antithyroid drug, or after administration of the large dose of iodine in contrast
studies. The hyperactivity of sympathetic nervous system with increased
response to catecholamine along with an increased cellular response to thyroidhormone during acute stress or infections, causing cytokines release and altered
immunological disturbances, are other possible mechanisms of thyroid storm.
signs of thyrotoxicosis (hyperthyroidism)- results from any cause of increased
amounts of TH levels-Grave’s disease. Thin hair, exophthalmos, enlarged thyroid
(warm on palpation, nodular, solitary “toxic” nodule, heart failure (tachycardia),
weight loss, diarrhea, warm skin, sweaty palms, hyperreflexia, pretibial
myxedema, oligomenorrhea or amenorrhea, N/V, anorexia, restlessness, short
attention span, dyspnea.
Neurological:
Dermatomes- Specific areas of cutaneous (skin) innervation at these spinal cord
segments are called dermatomes. The sensation of pain corresponds to skin
dermatomes T6 and L1. Sensory nerve distribution of skin dermatomes. Referred pain is
usually well localized and is felt in the skin dermatomes or deeper tissues because
visceral afferent neurons and regional somatic neurons converge on second-order
neurons at the same level of the spinal cord. Referred pain.
substance release at the synapse- In response to the arrival of an action potential
at the synaptic knob (presynaptic neuron), vesicles containing neurotransmitters
release their contents into the synaptic cleft (the space between the neurons).
Neurotransmitters diffuse across the synaptic cleft and bind to specific receptors
on postsynaptic neurons, where they trigger an action potential in the
postsynaptic neuron.
Spondylolysis- a structural defect (Degeneration, fracture, or developmental
defect) in the pars interarticularis of the vertebral arch (the joining of the vertebral
body to the posterior structures). The lumbar spine at L5 is affected most often.
Heredity plays a significant role and spondylolysis is associated with an
increased incidence of other congenital spinal defects. Symptoms include lower
back pain and lower limb pain. Cervical spondylosis is facet hypertrophy and disk
degeneration with narrowing in the cervical spine predominantly at C5-C6 and C6-
C7.
location of the motor and sensory areas of the brain- Cerebral Cortex. The
peripheral nervous system is divided int somatic nervous system and autonomic
nervous system. The somatic nervous system consist of motor and sensory
pathways regulating voluntary motor control of skeletal system. The autonomic
nervous system consists of motor and sensory components involved in
regulating the body’s internal environment (viscera) through involuntary control
of organ systems. Primary motor cortex (M1) lies along the precentral gyrus in
frontal lobe, Sensory is postcentral gyrus in the cortex.
pathophysiology of cerebral infarction and excitotoxins- PathophysiologyCerebral infarction results when an area of the brain loses its blood supply
because of vascular occlusion. IV tPA is used to treat acute strokes due to its
thrombolytic activity but can also cause neurotoxic outcomes during stroke.
Intracerebral injection of excitotoxins such as glutamate causes neuronaldamage. Neuronal injury following focal cerebral ischemia is attributed to
excitotoxic effects of glutamate injury causing hypoxia from depolarization.
agnosia- A defect of pattern recognition—a failure to recognize the form and
nature of objects. Agnosia can be tactile, visual, or auditory, but only one sense is
generally affected. For example, an individual may be unable to identify a safety
pin by touching it with a hand but able to name it when looking at it. Agnosia may
be as minimal as a finger agnosia (failure to identify by name the fingers of one's
hand) or more extensive, such as a color agnosia. Agnosia most commonly is
associated with cerebrovascular accidents (CVA), it may arise from any
pathologic process that injures these specific areas of the brain. Ex. Spatial,
object, visual, color, auditory, finger, tactile
accumulation of blood in a subarachnoid hemorrhage- Subarachnoid hemorrhage is
when a vessel is leaking, blood oozes into the subarachnoid space. When a
vessel tears, blood under pressure is pumped into the subarachnoid space.
Subarachnoid hemorrhage (SAH) is the escape of blood from a defective or
injured vasculature into the subarachnoid space. The blood increases the
intracranial volume, (Increased ICP, headache). Chronic subdural hematomas
develop over weeks to months. The existing subdural space contains the
liquefed clot from the acute bleed and/or accumulation of blood from a
leaking vein. 80% have chronic headaches and tenderness over the hematoma
on palpation. They may have confusion, memory loss, or coma, difculty
speaking or swallowing, and weakness with difculty walking, loss of
sensation, or seizures. Chronic subdural hematomas require a craniotomy to
evacuate the gelatinous blood and to prevent brain herniation. Percutaneous
drainage for chronic subdural hematomas has proven successful
most common cause of meningitis- Viral meningitis is the most common cause.
Infectious meningitis may be caused by bacteria, viruses, fungi, parasites, or
toxins. Streptococcus pneumoniae bacteria is the most common cause of
bacterial meningitis. Bacterial: Meningococcus (Neisseria meningitidis) and
pneumococcus (Streptococcus pneumoniae) are the most common pathogens.
Genitourinary:
diet and the prevention of prostate cancer- epidemiological studies have found
that total fat intake, animal and saturated fat, red meat, and dairy products are
associated with an increase in prostate cancer risk. Vitamin E, a fat-soluble
vitamin is obtained from vegetable oils, nuts, and egg yolk. Obesity, high BMI and
excessive carbohydrate intake are linked to advanced and aggressive prostate
cancer. Monounsaturated fats may decrease the risk of prostate cancer, high
levels of linolsleic acid (corn oil, safflower) are proinflammatory, and promotes
proliferation and angiogenesis. The Western diet has increased omega 6/omega 3
ratios and therefore is proinflammatory. Cooking meats at high temperatures is
carcinogenic. MEAL (Men’s eating and living study), diet-based intervention to
increase vegetable and fruit consumption to see if it can slow prostate cancer
progression for men with low-grade prostate cancer. Meats that contain nitrate
are bad.Impact of Benign Prostatic Hypertrophy (BPH) on the urinary system- Benign
prostatic hyperplasia (BPH) is enlargement of the prostate gland. Postrenal-caused by UT
obstruction, BPH is problematic as prostatic tissue compresses the urethra resulting in
frequent lower urinary tract symptoms such as urge to urinate often, a delay in starting
urination, decreased force of the urinary stream, long-term urinary retention. Obstruction
to urine flow in the lower urinary tract includes enlargement of prostate in men.
Genetics:
the role of DNA in genetics- Our bodies are made up of trillions of cells. And at
sometime in its development every cell contains a nucleus, the control center,
where genetic material DNA is located. DNA contains the genetic information, the
programming for our cell. Therefore, it must be replicated or copied in its entirety
before any cell can reproduce. The enzyme DNA polymerase is important to help
catalyze the DNA replication process. Each set of 46 chromosomes inside our
somatic cells contains approximately 6 feet of DNA tightly packaged inside the
nucleus of the cell. Genes are composed of DNA, and the most important
constituent of DNA is four types of nitrogenous bases. The four bases, adenine,
cytosine, guanine, and thymine, are commonly represented by their first letters:
A, C, G, and T, respectively. DNA to serve as the basis of genetic inheritance, DNA
must be able to provide a code for all the body's proteins. In addition to having
the ability to specify amino acid sequences, DNA must be able to replicate itself
accurately during cell division so that the genetic code can be preserved in
subsequent cell generations. DNA polymerase is the primary enzyme involved in
replication. It adds bases to the new DNA strand and performs “proofreading”
functions.
transcription- the process by which RNA is synthesized from a DNA template. The
result is the formation of messenger RNA (mRNA) from the base sequence
specified by the DNA molecule. Transcription of a gene begins when an enzyme
called RNA polymerase binds to a promoter site on the DNA. A promoter site is a
sequence of DNA that specifies the beginning of a gene. Transcription continues
until a DNA sequence called a termination sequence is reached.
effects of genetic mutations- any inherited alteration of genetic material.
Substances that cause mutations are called mutagens. Mutation rate in humans
varies from locus to locus and ranges from 10-4 to 10-7 per gene per generation.
Trisomy; Down Syndrome- Trisomy is an aneuploid cell containing three copies
of one chromosome. The most well-known example of aneuploidy in an autosome
is trisomy of the twenty-first chromosome, which causes Down Syndrome.
Down’s is seen in 1 in 800 live births. Down’s has 47 chromosomes, with an extra
on #21 (low nasal bridge, epicanthal folds, protruding tongue, and flat, low-set
ears, poor muscle tone (hypotonia) and short stature are characteristics). 97% of
cases caused by nondisjunction during the formation of one of the parent’s
gametes or during early embryonic development. Risk increases with maternal
age >35. Newborns with trisomy of chromosomes 13, 18, or 21 can survive.(Trisomy 13 is Patau syndrome, Trisomy 18 is Turner’s syndrome, and Trisomy 21
is Down syndrome)
Klinefelter syndrome- Individuals with at least two X chromosomes and a Y
chromosome in each cell (47,XXY karyotype) have a disorder known as Klinefelter
syndrome, have a male appearance b/c of Y chromosome, sterile, female-like
breasts (gynecomastia), testes are small, body hair is sparse, the voice is often
somewhat high pitched, stature is elevated, and a moderate degree of mental
impairment may be present. Klinefelter syndrome is found in about 1 in 1000 male
births. Individuals with the 48,XXXY and 49,XXXXY karyotypes also are
considered to have Klinefelter syndrome. Klinefelter syndrome smallness of
testes with fibrosis and hyalinization of seminiferous tubules, variable degrees of
masculinization, azoospermia, infertility, and increased levels of urinary
gonadotropins; associated typically with an XXY chromosome complement
although variants include XXYY, XXXY, and XXXXY.
diseases that have multifactorial traits- Hypertension, coronary heart disease,
stroke, diabetes mellitus (types 1 and 2), and some cancers are caused by
complex genetic and environmental factors.
multifactorial inheritance- Principles of Multifactorial Inheritance 1. Traits in which
variation is thought to be caused by the combined effects of multiple genes are
polygenic. 2. The term multifactorial is used when environmental factors also are
believed to cause variation in the trait. 3. Many quantitative traits (e.g., blood
pressure) are multifactorial. 4. Because traits are caused by the additive effects of
many genetic and environmental factors, they tend to follow a normal or bellshaped distribution in populations. 5. Those diseases, however, that do not follow
a bell-shaped distribution appear to be either present or absent in individuals.
They do not follow the inheritance patterns of single-gene disease. Instead, such
diseases may follow an underlying liability distribution. It is thought that a
threshold of liability must be crossed before the disease is expressed. 6.
Examples of diseases that correspond to the liability model include pyloric
stenosis, neural tube defects, CL/P, and some forms of congenital heart disease.
7. Many of the common adult diseases, such as hypertension, coronary heart
disease, stroke, diabetes mellitus (types 1 and 2), and some cancers, are caused
by complex genetic and environmental factors and are thus multifactorial
diseases. 8. For most multifactorial diseases, empirical risks (risks based on
direct observation of data) have been derived. 9. In contrast to most single-gene
diseases, recurrence risks for multifactorial diseases can change significantly
from one population to another because gene frequencies, as well as
environmental factors, can differ among populations. 10. Several criteria are used
to define multifactorial inheritance: (a) the recurrence risk becomes higher if
more than one family member is affected; (b) if the expression of the disease in a
proband is more severe, the recurrence risk is higher; (c) the recurrence risk is
higher if the proband is of the less commonly affected sex; (d) the recurrence risk
for the disease usually decreases rapidly in more remotely related relatives; and
(e) if the prevalence of the disease in a population is f, the risk for offspring and
siblings of probands is approximately .Criteria are commonly used to define multifactorial inheritance
1.The recurrence risk becomes higher if more than one family member is affected
2. If the expression of the disease in the proband is more severe, the recurrence
risk is higher.
3.The recurrence risk is higher if the proband is of the less commonly affected
sex
4. The recurrence risk for the disease usually decreases rapidly in more remotely
related relatives
Duchenne muscular dystrophy- most common of the muscular dystrophies,
affecting approximately 1 in 3500 male births. Occurs primarily in boys because
of an X-linked inheritance. Caused by deletion of one or more exons of the DMD
gene on the X chromosome or, more rarely, by a nonsense mutation resulting in
premature termination of translation. DMD is the largest gene in the human
genome and encodes dystrophin, a large, membrane-stabilizing protein.
Dystrophin is present in normal muscle cells and absent in DMD. Dystrophin
mediates anchorage of the actin cytoskeleton of skeletal muscle fibers to the
basement membrane through a membrane glycoprotein complex. The lack of
dystrophin results in poorly anchored fibers that are torn apart under the
repeated stress of contraction. Free calcium then enters the muscle cells,
causing cell death and fiber necrosis. Disruption of the cell membrane allows
escape of creatine kinase (CK), increasing serum levels to 100 to 1000 times or
more its normal level. Marked elevations of CK levels are easily identified in
children suspected to have DMD and are an important diagnostic screen.
Identified around age 3-4 years because of gait abnormalities, including toewalking, difficulty getting up from the ground, and frequent falls. Diagnosis
confirmed with genetic testing and elevated CK levels.
Neurofibromatosis- Neurofibromas are a group of autosomal dominant disorders
of the nervous system. They include neurofibromatosis type 1-most prevalent
with an incidence of about 1 in 3500 people and causes multiple cutaneous
neurofibromas; cutaneous macular lesions (café’-au-lait spots and freckles); and,
less commonly, bone and soft tissue tumors. Inactivation of the NF1 gene results
in loss of function of neurofibromin in Schwann cells and promotes
tumorigenesis (neurofibromas). Learning disabilities are present in about 50% of
affected individuals. Neurofibromatosis type-rare, occues in about 1 in 60,000
people. The NF2 gene product is neurofibromin 2 (merlin), a tumor-suppressor
protein. Mutations promote development of central nervous system tumors,
particularly schwannomas, although other tumor types can occur (meningiomas,
ependymomas, astrocytomas, and neurofibromas). Genetic testing is available
and prenatal diagnosis is possible.NIH Diagnostic Criteria for Neurofibromatosis
Criteria for the Diagnosis of NF1 Two of the following seven criteria: • Six or more
café-au-lait macules greater than 5 mm in greatest diameter in prepubertal
individuals and greater than 15 mm in greatest diameter in post-pubertal
individuals (adults) • Multiple axillary or inguinal freckles • One plexiform
neurofibroma or two or more neurofibromas of any type • Optic glioma • Two or
more Lisch nodules (iris hamartomas) • A distinctive osseous lesion such as
sphenoid dysplasia or thinning of the cortex of long bones with or without
pseudarthrosis • A first-degree relative with NF1 by the above criteria
Criteria for the Diagnosis of NF2 Either one of the following criteria: • Bilateral
masses of the eighth cranial nerve seen with appropriate imaging techniques
(e.g., CT or MRI) • A first-degree relative with NF2 and either: a. Unilateral mass of
the eighth cranial nerve or b. Two of the following: 1. Neurofibroma 2.
Meningioma 3. Glioma 4. Schwannoma 5. Juvenile posterior subcapsular
lenticular opacity
Musculoskeletal:
ions that initiate muscle contraction- Contraction begins as the calcium ions
combine with troponin, a reaction that overcomes the inhibitory function of the
troponin-tropomyosin system.
growth of long bones in children- growth in the length of long bones occurs at
the physeal plate through endochondral ossification. Cartilage cells at the
epiphyseal side of the physeal plate multiply and enlarge. As rapidly as new
cartilage cells form, cartilage cells at the metaphyseal side of the plate are
destroyed and replaced by bone. Bone is constantly being destroyed and reformed. This is a rapid process in young children, allowing them to heal bone
injury more quickly than adults. Long bones have a broad end (epiphysis), broad
neck (metaphysis), and narrow midportion (diaphysis) that contains the
medullary cavity. Rickets occurs in the growing bones of children, deficient Vit. D
or calcium.
bones belonging to the appendicular skeleton- consists of 126 bones that make
up the upper and lower extremities, the shoulder girdle (pectoral girdle), and the
pelvic girdle (os coxae). The skeleton contributes about 14% of the weight of the
adult body.
Immunity/Inflammation:
how vaccines are formed- by taking viruses or bacteria and weakening them so that
they can't reproduce (or replicate) themselves very well or so that they can't
replicate at all. Children given vaccines are exposed to enough of the virus or
bacteria to develop immunity, but not enough to make them sick.populations at risk for getting systemic fungal infections and parasitic infectionspeople with weakened immune systems, genetic defects, infections such as HIV, cancer, and
drugs used to prevent transplant rejection. ppl on broad spectrum antibiotics. Poor hygiene
& sanitation, developing countries, children. Immune defciencies may allow invasive
systemic infections (e.g., systemic fungal infections)
systemic manifestations of infection- fever, leukocytosis, increased heart rate,
pain, and serum elevations of enzymes in the plasma
mechanisms responsible for the increase in antimicrobial resistance worldwideoveruse or misuse of antimicrobials (antibiotics). Antimicrobial resistance occurs naturally
through genetic changes.
functions of normal flora in the body- relationship between between the normal
microbiome and humans has been referred to as commensal (to the benefit of
one organism without affecting the other); however, the relationship may be more
mutualistic (to the benefit of both organisms). Members of the normal
microbiome also produce chemicals (ammonia, phenols, indoles, and other toxic
materials) and toxic proteins (bacteriocins) that inhibit colonization by
pathogenic microorganisms.
desensitization therapy- Clinical desensitization to allergens can be achieved in
some individuals. Minute quantities of the allergen are injected in increasing
doses over a prolonged period. The procedure may reduce the severity of the
allergic reaction in the treated individual. Mechanisms by which desensitization
occurs may be several, one of which is the production of large amounts of socalled blocking antibodies, usually circulating IgG, Suppressing the allergic
response.
cells involved in “left shift” in the WBC count differential- when the demand for
circulating mature neutrophils exceeds the supply, the marrow begins to release
immature neutrophils (and other leukocytes) into the blood. Premature release of
the immature white cells is responsible for the phenomenon known as “shift-tothe-left” or leukemoid reaction. This refers to the microscopic detection of
disproportionate numbers of immature leukocytes in peripheral blood smears.
When immature leukocytes are released prematurely they cause a shift in the
distribution of cells in the blood toward the left side, or immaturity side, of the
diagram. As infection or inflammation diminshes and as granulopoiesis
replenishes circulating granulocytes, a shift back to normal occurs.
forms of immunity- Innate immunity-1st line of defense: physical, mechanical, and
biochemical barriers and normal microbiome, including the skin and
membranous sheets lining the GI, GU and respiratory tracts. Physical and
mechanical: routine sloughing off and replacement of dead skin cells also
removes adherent bacteria, and mechanical cleansing of the surfaces include
vomiting and urination. Goblet cells of the upper respiratory tract produce mucus
that coats the epithelial surface and traps microorganisms that are removed by
hairlike cilia that mechanically move the mucus upward to be expelled by
coughing or sneezing. Low temp of skin and low pH of the skin and stomachgenerally inhibit bacterial growth. Biochemical barriers-epithelial surfaces also
provide biochemical barriers by synthesizing and secreting substances meant to
trap or destroy microorganisms. Mucus, perspiration, saliva, tears, and earwax
are all examples of biochemical secretions that can trap and kill potential
disease-causing microorganisms. 2nd line of defense: Inflammation. Programmed
to respond to cellular or tissue damage, whether the damaged tissue is septic
(contaminated with microorganisms) or sterile. This is a rapid initiation and
interactive system of humoral (soluble in the blood) and cellular systems
designed to limit the extent of tissue damage, destroy contaminating infectious
microorganisms, initiate the adaptive immune response, and begin the healing
process. Adaptive (acquired) immunity, often called the immune response or
immunity, and consists of lymphocytes and serum proteins called antibodies.
Inflammation is the “first responder” that contains the initial injury and slows
spread of infection, whereas adaptive immunity is the “secondary responder”
that augments the initial defenses against infection and provides long-term
security against reinfection. Innate immunity, especially inflammation, and
adaptive immunity are highly interactive and complementary. Autoimmunityimmune system responds to self-antigens responds to antigens within your own
body. IgM appears first, but rapidly disintegrates, followed by IgG that persists
longer.
major histocompatibility class I antigens- the MHC molecules are glycoproteins
found on the surface of all human cells except red blood cells. They are divided
into two general classes, I & II, based on their molecular structure, distribution
among cell populations, and function in antigen presentation. MHC molecules
are encoded from the MHC region on chromosome 6, which contains information
for class I and class II molecules, as well as for several other molecules that
participate in the innate or immune responses. MHC class I molecules are single
transmembrane chains (alpha) and Beta 2 microglobulin. They are all nucleated
cells and platelets and present “ENDOGENOUS” antigens (Beta 10 amino acids)
derived from intracellular proteins. They react with CD8 on Tc cells. The MHC
class 1 molecules present small peptide antigens in a pocket formed by the
alpha1 and alpha2 domains of the alpha chain. [Show Less]