NR-507 Advanced Pathophysiology Week 8 Final Exam Study Guide, Exams of Nursing

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NR-507 Advanced Pathophysiology Week 8 Final Exam Study Guide 100% CORRECT Reproductive: endometrial cycle and the occurrence of ovulation - the menstrual cycle consist of three phases: the follicular/proliferative phase (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 blood vessels, 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 columnar epithelial 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. 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 thyroid hormone 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.

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 circadian secretion 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. 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. 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. 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. 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 - Pathophysiology- Cerebral 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 neuronal damage. 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 liquefied 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, difficulty speaking or swallowing, and weakness with difficulty 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 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. 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. 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 bell-shaped 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
4. The recurrence risk becomes higher if more than one family member is affected
5. If the expression of the disease in the proband is more severe, the recurrence risk is higher.
6. The recurrence risk is higher if the proband is of the less commonly affected sex
7. The recurrence risk for the disease usually decreases rapidly in more remotely related relatives
8. 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.

6. Transcription continues until a DNA sequence called a termination sequence is reached.
8. 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.
10. 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

11. 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)

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 toe-walking, 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 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 re-formed. 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 infections - people 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 deficiencies 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 worldwide - overuse 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 so-called 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-to-the- 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 stomach generally 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. Autoimmunity- immune 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. inflammatory chemicals blocked by anti-inflammatory drugs- Cyclooxygenase exists in two different forms: COX-1 is found in most tissues and COX-2 is associated with inflammation. NSAIDS inhibit both COX-1 and COX-2, blocking sythesis of prostaglandins of the E series, but inhibition of COX-1 causes complications, such as GI toxicity: Selective COX-2 inhibitors are now available, Celebrex is the only one available in the U.S. right now, due to others being pulled for increasing risk for heart attack and stroke. characteristics of acute phase reactant C-reactive protein - hs-CRP is an acute phase reactant or protein mostly synthesized in the liver and is an indirect measure of atherosclerotic plaque-related inflammation and plaque progression. Elevated levels are associated with numerous other CAD risk factors including smoking, obesity, and diabetes and, while they have been found to be an independent risk factor for CAD, the risk is highest when there is an associated elevation in LDL-C. Current recommendation suggest that hs-CRP should be used as a part of overall cardiovascular risk assessment in selected individuals. Dermatology: process by which a deep pressure ulcer heals - debride dead tissue, opening of deep pockets for drainage, repair of damaged dead tissue by construction of skin flaps for large, deep ulcers. Negative-pressure wound healing is used in the treatment of advanced-stage pressure injuries. complications of the development of contractures during wound healing - excessive wound contraction may result in a deformity or contracture, such as a scar formation with contractures in burn patients. Internal contractures can also occur, such as in cirrhosis of the liver, where internal scar tissue becomes contracted and constricts blood flow that may contribute to the development of portal hypertension and esophageal varices. Duodenal strictures caused by dysfunctional healing of an ulcer and esophageal strictures caused by chemical burns. Proper positioning and range of motion exercises, as well as surgery, are among the physical means used to overcome the excessive myofibroblast-derived tension that results in contractures. Acid/Base:

causes of respiratory alkalosis - prime cause is an increase in respiratory rate or volume. Hyperventilation should always be ruled out in the case of a spontaneously breathing individual with respiratory alkalosis. Fever, anemia, thyrotoxicosis, early salicylate intoxications, or anxiety or panic disorder. molecules that act as buffers in the blood - A plasma buffer is any negatively charged molecule that can bind with hydrogen ions to raise the pH of the blood. Bicarbonate is the major plasma buffer; however, proteins such as hemoglobin and albumin also have a negative charge and play a role in plasma buffering as well. Cardiovascular: most common cardiac valve disease in women - mitral valve prolapse in younger women, but three times more women than men have mitral valve stenosis. when myocardial ischemia may be reversible - unstable angina is the result of reversible myocardial ischemia and is a harbinger of impending infarction. Tachycardia, exercise, coronary spasm, hypotension, anemia, hypoxemia and aortic valvular disease. Many individuals with reversible myocardial ischemia exhibit a normal physical examination between episodes. Individuals with reversible myocardial ischemia present clinically in several ways. Chronic atherosclerotic coronary obstruction usually results in recurrent predictable chest pain called stable angina. Unstable angina is the result of reversible myocardial ischemia and is a harbinger of impending infarction. Unstable angina is a form of acute coronary syndrome that results in reversible myocardial ischemia. It is important to recognize this syndrome because it signals that the atherosclerotic plaque has ruptured, and infarction may soon follow. symptoms of stable angina - chest pain caused by myocardial ischemia. Transient substernal chest discomfort, ranging from a sensation of heaviness or pressure to moderately severe pain. May be mistaken for indigestion. Pain may radiate to the neck, lower jaw, left arm, and left shoulder or occasionally to the back or down the right arm. Pallor, diaphoresis, and dyspnea may be associated with the pain. The pain is usually relieved by rest and nitrates. Women with myocardial ischemia often have either no or atypical symptoms, such as palpitations, anxiety, weakness, and fatigue orthostatic hypotension - a drop in a blood pressure that occurs on standing. The compensatory vasoconstriction response to standing is altered by a marked vasodilation and blood pooling in the muscle vasculature. Orthostatic hypotension may be primary or secondary. The primary form is caused by neurologic changes that affect the autonomic reflexes that control blood pressure upon standing. isolated systolic hypertension - is elevated systolic blood pressure accompanied by normal diastolic blood pressure (less than 90 mmHg). ISH is becoming more prevalent in all age groups and is strongly associated with cardiovascular and cerebrovascular events.

results of sustained controlled hypertension - Sustained HTN => Vascular remodeling (Hyaline sclerosis & Atherosclerosis) leading to either (Heart)-Cardiac disease, Coronary artery disease (CAD), Congestive heart failure, (Kidney)-Renal disease (Nephrosclerosis), (Eye)-Retinal changes; sustained HTN => Neurologic disease (stroke, dementia, encephalopathy) the relationship of insulin resistance on the development of primary hypertension - insulin resistance is associated with endothelial injury and affects renal function, causing renal salt and water retention. Insulin resistance is associated with overactivity of the SNS and the RAAS. Many individuals with diabetes treated with drugs that increase insulin sensitivity, blood pressure often declines, even in the absence of antihypertensive drugs. defects in the normal secretion of natriuretic hormones and the impact on renal system - Natriuretic hormones, such as atrial natriuretic peptide, stimulate sodium excretion by the kidneys in response to volume overload. So a defect in the normal secretion would cause sodium retention and increased fluid overload, increasing blood pressure. effects of increased sympathetic nervous system activity due to primary hypertension - The SNS contributes to the pathogenesis of HTN in many people. In a healthy individual, the SNS contributes to the maintenance of adequate blood pressure and tissue perfusion by promoting cardiac contractility and heart rate (maintenance of adequate cardiac output) and by inducing arteriolar vasoconstriction (maintenance of peripheral resistance). In people with HTN, overactivity of the SNS can result from increased production of catecholamines (epinephrine and norepinephrine) or from increased receptor reactivity involving these neurotransmitters. Increased SNS activity causes increased heart rate and systemic vasoconstriction, thus raising the blood pressure. Efferent sympathetic outflow stimulates renin release, increases tubular sodium reabsorption, and reduces renal blood flow. Structural changes in blood vessels (vascular remodeling), insulin resistance, increased renin and angiotensin levels, and procoagulant effects can also occur with SNS induced HTN. complications of unstable plaque in the coronary arteries - Prone to ulceration or rupture and thrombosis so platelets begin sticking to the exposed underlying tissue of the vessel wall and form a clot that completely occlude the vessels. This results in acute coronary syndrome known as unstable angina and indicates a higher risk for subsequent MI. forms of dyslipidemia associated with the development of the fatty streak in atherosclerosis - increased levels of LDLs. Macrophages that are filled with lipoproteins are called foam cells. These migrate into the vessel wall and accumulate, forming fatty streaks. Smooth muscle cells migrate over the fatty streaks & Fibrous tissue is synthesized. This forms a plaque, which can partially obstruct the lumen of the vessel. events that initiate the process of atherosclerosis - Damaged endothelium>fatty

streak and lipid core formation>fibrous plaque formation>complicated lesions that could rupture, occluding the vessel causing ischemia and possible infarction.

signs and symptoms of increased left atrial and pulmonary venous pressures in left sided heart failure - pulmonary edema. Dyspnea on exertion and fatigue, possible inspiratory crackles, pleural effusions. Pulmonary congestion without cardiomegaly. differences between left and right sided heart failure - Right sided heart failure (cor pulmonale) is the inability of the right ventricle to provide adequate blood flow into the pulmonary circulation at a normal central venous pressure. Most often results from severe left heart failure when the increased left ventricular filling pressure is reflected back into the pulmonary circulation. As pressure in the pulmonary circulation rises, the resistance to right ventricular emptying increases. The right ventricle hypertrophies in response to this increased workload, however it undergoes progressive diastolic and systolic deterioration and will dilate and fail. When this happens, pressure will rise in the systemic venous circulation, resulting in JVD, peripheral edema, and hepatosplenomegaly. When right heart failure occurs in the absence of left heart failure, it is caused most commonly by pulmonary HTN resulting from diffuse hypoxic pulmonary disease, such as chronic obstructive pulmonary disease (COPD) and cystic fibrosis, or from primary pulmonary arterial HTN. It can result from right ventricular MI, cardiomyopathies, and pulmonic valvular disease. Left-sided heart failure-with reduced EF (systolic heart failure)-an ejection fraction of <40% and an inability of the heart to generate an adequate cardiac output to perfuse vital tissues. Cardiac output depends on the heart rate and stroke volume. Stroke volume is influenced by three major factors: contractility, preload, and afterload. Contractility is reduced by diseases that disrupt myocyte activity. MI is the most common cause of decreased contractility; other causes include myocarditis and cardiomyopathies. When contractility is decreased, SV falls, and left ventricular end-diastolic volume increases. This causes dilation of the heart and an increase in preload. *Heart failure with preserved EF (diastolic heart failure) can occur singly or along with systolic heart failure. Isolated diastolic heart failure is defined as pulmonary congestion despite a normal stroke volume and cardiac output. Major causes include HTN-induced myocardial hypertrophy and myocardial ischemia with resultant ventricular remodeling. Hypertrophy and ischemia cause a decreased ability of the myocytes to actively pump calcium from the cytosol, resulting in impaired relaxation. Two areas of pathophysiologic changes in the ventricle have been identified in diastolic dysfunction: decreased compliance of the left ventricle and abnormal diastolic relaxation. infective endocarditis - infection and inflammation of the endocardium, especially the cardiac valves. Bacteria are the most common cause of IE with Staphylococcus aureus the most common causative agent worldwide. Three critical elements are present for IE: Trauma, congenital heart disease, valvular heart disease, and the presence of prosthetic valves are the most common risk factors for endocardial damage that leads to IE. Blood-born microorganisms adherence to the damaged endocardial surface, and formation of infective endocardial vegetations are the other two elements. Risk Factors for Infective Endocarditis • Implantation of prosthetic heart valves • Congenital lesions associated with highly turbulent flow (e.g., ventricular septal defect) • Acquired valvular heart disease (especially mitral

valve prolapse) • Previous attack of infective endocarditis • Intravenous drug use • Long-term indwelling