Term
|
Definition
| A genetic mutation leading to hemaglobin (Hgb) precipitation, which causes a deformity in RBC shape (drepanocyte). These cells are sticky and can lead to clumping/clogging, restricting blood flow and blood oxygen levels (hypoxia). Once they join, they usually do not separate. |
|
|
Term
| Chronic granulocytic leukemia |
|
Definition
Proliferating cells are partly or completely differentiated. Myelocytes, metamyelocytes, band forms, and neutrophils appear in peripheral blood. Greater
than 100k/ul; increased Eos and Bas; LAP is <10; splenomegaly is usually present |
|
|
Term
|
Definition
Persistent neutrophilia due to a redistribution of neutrophils; 50k/ul
but not greater than 100k/ul; redistributed from marrow, microcirculation, and marginating compartment. Most frequent causes of leukemoid reaction are inflammation, infection, and malignancy. Eos and Bas increase is rare; LAP is >100; no splenomegaly. |
|
|
Term
|
Definition
| Phospholipase B crystals that are found in diseases associated with eosinophilia and are seen in secretions or excretions (sputum, feces) or CT. Found in sputum of asthmatics. |
|
|
Term
| Cellularity of the Bone Marrow |
|
Definition
1. Bone cellularity changes with age.
2. Bone marrow cellularity calculated by subtracting individual's age from 100 with a deviation of 10 (100 – age +/-10=bone marrow cellularity)
3. Normocellular bone is in normal range
4. Hypocellular bone marrow, occuring in aplastic anemia or after chemotherapy, is low levels
5. Hypercellular bone marrow, occuring in myelogenous leukemia, is a high percentage.
6. e.g. Cloris Leachman, an 82 yr. old man, should have bone marrow containing 8-28% of active bone-producing cells
if he had 48% of active bone-producing cells, he would have hypercellular bone marrow |
|
|
Term
|
Definition
| TCP is a platelet count < 150,000/ul. The leading cause of decreased platelet production is alcohol which impairs the maturation of megakaryocytes. Counts rise after 3-5 days of abstinence. |
|
|
Term
| Chronic Granulomatous disease (CGD) |
|
Definition
| An x-linked disorder characterized by deficient NADPH oxidase in the cell membranes of neutrophils and monocytes. NADPH reduces molecular oxygen to sueroxide anion (O2-), and a cellular response using this complex is called a respiratory bust (RPB). Deficient NADPH means the RPB is absent. Classic test for CGD was the nitroblue tetrazolium test (NBT), where neutrophils change to a blue color if the RPB is intact. More sensitive tests are now available. |
|
|
Term
|
Definition
| Greater than 10% of total wbc count or greater than 800 per microliter. Many or just about anything causes it: bacteria, viral, and protozoan infections; Hodgkin lymphoma and chronic myelogenous leukemia are two malignancies with exremely high monocyte counts. |
|
|
Term
| Acquired Immunodeficiency Disease |
|
Definition
1. Mediated by RNA retrovirus called Human Immunodeficiency Virus (HIV)
2. HIV utilizes a glycoprotein (gp120) on its surface to bind to the CD4 molecule on the surface of CD4+ T helper cells.
3. This allows the virus to fuse with CD4+ T cells, releasing its contents, which includes the enzyme reverse transcriptase and its RNA-encoded genome.
4. HIV utilizes reverse transcriptase to convert its RNA into DNA, which is then incorporated into the genome of the T cell.
5. This allows the virus to utilize the transcription and translation machinery of the T cell to generate more copies of itself.
6. As the HIV virus is replicated inside the T cell, it eventually lyzes the T cell releasing thousands of new copies of the virus to infect more T cells.
7. The result is a decrease in number of CD4+ T cells, which leads to persistant reoccurring infections by opportunistic pathogens such as pneumonia, toxoplasmosis and the development of malignancies such as Kaposi sarcoma and non-Hodgkin lymphoma.
8. Immune system responds by generating CD8 + CTL and Ab
9. Diagnosis is by PCR to detect virus RNA sequence and/or counts of CD4+ T cells.
10. Treatment includes a cocktail of chemotherapeutic agents that includes AZT – an inhibitor of reverse transcriptase |
|
|
Term
|
Definition
1. Inflammation of tonsils that results in sore throat and fever.
2. In severe cases of inflammation, tonsils can become so swollen that they impair swallowing
3. and/or breathing.
4. Usually caused by Group A streptococcal bacteria
5. Treatment – antibiotics
6. In the case where tonsillitis is reoccurring, an abscess has formed, or tonsils have become extremely hypertrophic, a tonsillectomy is performed. |
|
|
Term
|
Definition
1. Activation of B cells as a consequence of an infection (such as a bacterial infection) results in their migration to nodules in the cortex of lymph nodes.
2. Activated B cells then proliferate rapidly resulting in an increase in node size to several times normal.
3. Additionally, the node may become hard and palpable to touch.
4. Palpable lymph nodes in neck are diagnostic for upper respiratory infections. |
|
|
Term
|
Definition
1. Malfunction of immune system such that it can no longer distinguish self from non-self.
2. Lymphocytes see Ags derived from self as foreign.
3. Immune system begins to destroy healthy tissue.
4. Examples are rheumatoid arthritis, Graves disease, and lupus
5. Treatment generally consists of immunosuppressive drugs. |
|
|
Term
|
Definition
| 1. Deletion of the region 22q11 on chromosome 22, involving 30 different genes. 2. Characterized by heart defects, mental retardation, malformed or absent kidneys, unique facial appearance, psychiatric disorders, & congenital absence of thymus and parathyroid glands due to abnormal development of 3rd and 4th pharyngeal pouches. 2. Associated with abnormal cell-mediated immunity but normal humoral immunity. 3. Patients usually die from tetany (due to absence of parathyroid gland) or uncontrollable infection (due to lack of thymus and therefore mature T cells). Treatment--> bonemarrow transplant |
|
|
Term
|
Definition
1. symptoms include: swelling; restricted range of movement; reocurring infections in affected limb; hardening and thickening of skin
2. Causes:
A. Primary lymphedema--rare, inherited disorder causing improper development of lymphatic vessels
1. Milroy's disease- begins in infancy; malformation of lymph nodes--> lymphedema
2. Meige disease--lymphedema occurs in childhood or at puberty; lack of valves in lymphatic vessels-->backward flow--> lymphedema
B. Secondary lymphedema--causes include surgery (removal of lymph nodes and/or vessels (breast cancer); radiation treatment for cancer; obstruction by cancerous mass; infection |
|
|
Term
|
Definition
1. Absence or reduced production of ADH due usually to lesion of hypothalamus or posterior lobe of pituitary gland
2. ADH acts to increase permeability of distal region of nephron (distal convoluted tubule and collecting ducts via ADH-regulated water channels)
3. ADH causes rapid resorption of water across tubule epithelium (concentrating urine)
4. Absence or reduced level of ADH results in production of large volumes of dilute urine (up to 20 L/day) and extreme thirst.
5. Diagnosed by determining urine and/or blood concentration
6. Treatments include: synthetic ADH |
|
|
Term
|
Definition
1. Tumors of the anterior pituitary usually composed of secretory cells
2. Enlarge and often suppress (or alternatively increase – gigantism) secretions by the
remaining pars distalis cells
3. Frequently destroy surrounding bone and neural tissues
4. Treated by surgical removal. |
|
|
Term
|
Definition
1. Characterized by diffuse enlargement of thyroid gland and protrusion of eyeballs (exophthalmic goiter)
2. Associated with presence of columnar-shaped thyroid follicular cells, excessive production of thyroid hormones, and decreased amounts of follicular colloid
3. Caused by binding of autoimmune IgG Abs to TSH receptors which results in stimulation of thyroid follicular cells & increased thyroid hormone secretion
4. Normal negative feedback so TSH levels in circulation usually normal.
5. Abnormal levels of secretion of thryoid hormones causes increased metabolism & increased sympathetic activity
6. Treatment: surgical removal of thyroid gland or radiotherapy (labeled iodine) to destroy most active follicular cells |
|
|
Term
|
Definition
1. Most common symptom of thyroid disease
2. Enlargement of thyroid gland due to excessive release of TSH from anterior pituitary
3. Due to insufficient iodine in diet (< 10 g/day) or autoimmune – Hashimoto’s thyroiditis
4. Treatment: increase iodine in diet or synthetic thyroid supplement |
|
|
Term
|
Definition
1. Over-activity of parathyroid glands resulting in excess secretion of PTH and subsequent bone resorption.
2. Associated with high blood calcium levels, which may lead to deposition of calcium salts in kidneys (kidney stones – leading to UTI) and walls of blood vessels
3. May be caused by benign tumor of parathyroid glands.
4. Treatment in severe cases is partial removal of the gland by surgery. |
|
|
Term
|
Definition
1. Characterized by secretion of inadequate amounts of adrenocortical hormones
2. Usually due to destruction of adrenal cortex
3. Most often caused by autoimmune disease or tuberculosis
4. Symptoms include: weight loss, muscle weakness, fatique, low BP, skin hyperpigmentation
5. Life-threatening & requires steroid treatment |
|
|
Term
| Hodgkin's Lymphoma (Disease) |
|
Definition
1. malignant growth of lymph system cells
2. chracterized by reed-sternberg cell (b-cell)
3. 40-50% also associated with Epstein-Barr virus
4. More common in ages 15-40 & > 55; rare in <5
5. This year, 4330 men & 3550 women diagnosed
6. Treatments: chemotherapy, bone marrow transplant, peripheral blood transplant, immunotherapy (mAbs), & radiation |
|
|
Term
|
Definition
| lymphatic vessel tumor; cystic hygromas--cyst resulting from blockage of lymphatic tissue |
|
|
Term
|
Definition
1. decrease in or total absence of plasma insulin results in elevated blood glucose levels and loss of glucose in urine.
2. Type I (insulin dependent; juvenile-onset)--> results from low levels of insulin in blood; characterized by insatiable hunger, unquenchable thirst, and excessive urination; usually has sudden onset before age 20; distinguished by damage to and destruction of beta cells of islets; treated with combination of diet and insulin therapy.
3. Type II (non-insulin-dependent)--> Does NOT result from low levels of insulin in blood; is insulin-resistant (due to decreased binding of insulin to its receptor and defects in induction of signal transduction pathway); commonly occurs in overweight individuals over 40 years of age; usually controlled by diet. |
|
|
Term
| thyroid hormones and fetal development |
|
Definition
1. T3 & T4 cross placental barrier
2. Critical in early stages of brain development
3. Deficiency during fetal development results in irreversible damage to CNS, including lower numbers of neurons, defective myelination, and mental retardation
4. T3 and T4 also stimulate gene expression for GH in somatotropes (absence results in stunted growth)
5. Congenital hypothyroidism (cretinism) combination of CNS damage and stunted growth |
|
|
Term
|
Definition
| pemphix=bubble; a chronic, blistering skin disorder caused by the action of IgG antibodies to surface antigens (cadherin family) on keratinocytes, an autoimmune disorder; |
|
|
Term
| Epidermolysis bullosa (EB) |
|
Definition
| 3 distinct mechanisms of blister formation, See handout; (1) defects in keratin within the basal layer,(2) defect in laminin, and (3) defect in Type VII collagen-anchoring fibrils. |
|
|
Term
| Sweating and Disease – i.e. Cystic Fibrosis – Sweat Test |
|
Definition
| In CF, Na+ and Cl- is 2-5X greater in sweat; Uremia, when urea remains in blood intead of excreted in urine. Concentration of urea in sweat increases and when water evaporates, crystals form on skin and lips called “urea frost”. |
|
|
Term
|
Definition
| Dermal repair: remove collagen by macrophages, fibroblast proliferation, incision made parallel to collagen fibers; Epidermis, proliferation of keratinocytes in st. basale in undamaged area, scab forms, st basal cells migrate beneath scab, proliferation of cell layers occurs behind the migration therefore a scab releases from its edges; if highly traumatic removal then hair follicles and glands will proliferate into dermis and epidermis; if there is no dermis, epidermis, hair follicles, or glands left then skin grafting is required. |
|
|
Term
|
Definition
| typically categorized as tyrosinase positive or negative. In cases of tyrosinase positive albinism, the tyrosinase is present but is unable to enter melanocytes to produce melanin. In tyrosinase negative cases, this enzyme is not produced. |
|
|
Term
|
Definition
| A noncontagious skin disorder that most commonly appears as inflamed, edematous skin lesions covered with a silvery white scale. Cells reach apical layers in a short time. The most common type of psoriasis is plaque psoriasis and it is most common on the extensor surfaces of the knees, elbows, scalp, and trunk. Scalp psoriasis appears as erythematous raised plaques with silvery white scales on the scalp. See possible cause- T-cells, release tumor necrosis factor TNF |
|
|
Term
|
Definition
| associated with partial albinism of hair and skin, results from mutation in myosin Va gene. Myosin Va is a molecular motor protein that binds to actin and the melanosome, when it is released from the microtubule in dendrites. the binding helps transfer or transport melanosome to melanocyte dendrite cell membrane. |
|
|
Term
| Acne Vulgaris, obstructive type |
|
Definition
| plugging of the outlet of a hair follicle by keratin debris; androgen receptors on sebaceous gland cells stimulate division/maturation of cells and production of sebum; sebum outflow to the skin surface is blocked and follicles are distended (a comedo); males tend to have more severity in disease |
|
|
