Huntingtons, achrodoplasia, hypercholesterolemia
NAme 3 Autosomal Dominant diseases?
Name 1 Y-linked disease?
Name 2 diseases that are X linked Recessive?
Sick Cell Anemia
In this condition recessive allele s codes for hemoglobin S?
RBCs sickle shaped, leg ulcers,
Some symptoms of Sickle cell Anemia?
Deletions, Duplications, Inversion, & Translocation
Name the 4 types of Errors in gene sequence?
What disease is caused by Trisomy 21?
congental heart defect, umbical hernia, broad flat face, epicanthic eyefold, short nose
Name Down Syndrome traits?
TURNER Syndrome (XO)
People with this genetic condition are females but only have 1 x chromosome, women have wide necks, short stature, & no mensturation?
How is cystic fibrosis inherited??
Deletion of 3 bases on chromosome 7 will cause _____? which causes thick mucous to build in lungs & digestive tract?
Caused by Chromosome 15? Will show lipid deposits on macula?
Which parent do you inherit mitochondria from?
Leber's Optic Neuropathy
An example of maternal inheritance?
An agent that can produce a permant alteration of structure or function in an organism exposed during fetal life?
Tertogenicity depends upon the ability to __________placenta
T/F There are such things called teratogenic agents?
Birth defects effect ___% of newborns & ___% of children later?
Agent, Gestational timing
2 factors that effect TERATOGENICITY?
Teratogen is harmless in small doeses but becomes harmful when exposure reaches a certain level?
Interaction effect/Cumulative Risk
Risks increased when embryo is exposed to more than 1 teratogen or risk factor at the same time?
(cell) growth, death, migration, tissue interactions, disruptions
Name the 5 principle mechanisms of teratogenesis
Gene mutation, chromosomal anomalies
Name the 2 prinicpal mechanisms of MUTAGENESIS?
May cause pulmonary hypertension & prolonged delivery in 3rd trimester?
May cause growth retardation & Infant death?
May cause miscarriage and lower birth wt?
May cause heart defects in infant in 1st trimester?
Causes babies to have missinng limbs?
May cause baby to have abnormal lung function, ectopic pregnacy, sudden infant death syndrome, & cleft lip?
Ultrasounds, aminocentesis & chorionic villus
Name the 3 prenatal diagnosis tests?
viruses, chemical carinogens, physical carinogens
Name the 3 ways a tumor may be induced?
Induced & spontaneous
2 causes of tumors?
___Neoplasms are characterized by slow growth in one location?
___Neoplasms are characterized by slow or rapid growth, metaplasia, and shows ANAPLASIA
Malignant tumors show ____ in which cells lose their differentiating features?
Proliferating neoplastic cells?
Connective tissue tumors?
Hematopoietic tumor cells?
Regulates cell cycle?
Cancer cells never enter ____stage?
proteases associated with apotosis?
Bc12(-) & BAX(+)
Apoptosis is regulated by ___&___?
What gene is mutated in 40% of all cancers?
metastasis more typical of carcinomas?
metastasis more typical of sarcomas?
autonomy, anaplasia, transformation, progression, contact inhibition
All cancers have these 5 pathophyisiological mechanisms?
Variation in size and shape?
More aggressive tumor is given a grade of?
TNM, & AJC
Two systems used for staging tumors?
stage defines that cancer is confined to organ of orgin?
stage defines, tumor is locally invasive?
Stage defined: Cancer spread to regional structures like lymph nodes?
Stage defined as: Cancer spreading o distant sites, i.e. metastasis
stroma & neoplastic tissue
All tumors have 2 basic components?
Malignant tumors arrising from mesenchymal tissue?
Tumor arrising from nerve tissue or immature tissue?
Tumors containing mature or immature cells or tissues representing more than 1 germ layer (sometimes all 3)
Tumor like malformation composed of the haphazard arrangement of tissues indigenous to the sight?
Ecoptopic rest of normal tissue?
choriocarcinoma, seminoma, & embryonal carcinoma
3 tumors that people will have a false positive on a pregnancy test.
Loss of body fat and lean bone mass with profound weaknness, anorexia, and anemia
Symptoms cant be explained by local or distant spread, tumor elaboration of hormones?
Surgery, radiotherapy, chemo
3 primary treatments for cancer
Poly cyclic hydrocarbons
What causes sarcomas?
What causes mammary carcinomas?
Alkyl nitroso amines
What causes hepatoma?
inherited, chemical, spontaneous, viral, radiological
Name the 5 causes of Tumors?
What kind of tumor is caused by a failure in the cellular growth control?
CDK 1/ cyclin B
What cyclin triggers events of early mitosis (chromosome condensation, nuclear membrane breakdown)
CDK4 / Cyclin D
What cyclin activates transcription factors for genes such as DNA polymerase delta and DNA ligase?
BAX _____ apotosis?
Bcl2 _____ apotosis?
Anemia is a decrease of ___transporting capacity?
Hematocrit & hemoglobin concentration
What two Complete blood count methods are used to diagnose anemia?
white, red blood cells, & platelets
What 3 things are measured by CBC?
What is the mean cell volume?
4-10 x 10^9
What is the leukocyte count in the blood?
The most common leukocyte is _____ and makes up 40-75 %?
What is the amount of platelets in the blood?
production, morphology & MCV
What are the 3 ways anemias are classified?
blood loss, increased RBC destruction, & Impaired RBC production
What are the 3 factors that can impair the production of RBC leading to Anemia?
Size, shape, hemoglobulization
Name the 3 ways to classify Anemia based on morphology ?
Production of ALL blood cells?
Production of RED blood cells?
Bone marrow, iliac crest, sternum, /long bones
Hematopoesis & Erthropoesis occurs in the ____ ____ ___ of adults and the _____of babies?
Megaloblastic, iron deficiency and Thalassemia are ____cell disorders?
Pure red cell aplasia, anemia of chronic disease, anemia of renal failure are _____Cell disorders?
Aplastic anemia, paraoxysmal nocturnal hemoglobinuria,& myelodyplastic syndrome are ____cell disorder?
Hemoglobinopathy, cell membrane defects, & enzyme disorders are ____hemolysis?
Autoimmune mediated destruction & mechanical destruction are _____hemolysis?
What test determines if anemia is a problem with production or destruction ?
Reticulocyte counts are extrememly helpful in either extremely low or greater than ____%?
Stem cells, proerythroblast, early/late erythrobhlast, normoblaast, & reticulocytes
Name the 5 cells that produce RBC?
If a person has blood loss or hemolysis they will have an increase in?
Microcytic anemia is ___Deficiency with MCV lower than ___fl?
People with normocytic anemia with MCV of 80-100fl usually have _____diseases such as cancer?
vit b12 or folic acid
Macrocytic anemia/megaloblastic is a ____ or ____defiecency with MCV above 100fl?
RBC's last for ____days before they are phagocytosed by the spleen?
iron ; bilbruin
When the spleen phagocytizes RBC ___is reused and hemoglobbin is converted to _____?
Iron is abosrbed in the GI tract and sent to the BM via transferrin where it is absorbed via?
Childhood/adolesance, pregnancy, lactation
When are the 3 times in life when we need an increase in iron?
milk, achlorhydria, & inflammatory bowel disease
What are the 3 conditons that are associated with poor intake/absorption of iron?
Iron deficiency in ____ALWAYS needs to be WORKED UP?
latrogenis, urinary loss, tissue loss, menstration, gi bleeding
Name 5 causes of iron deficiency?
low, high low
In Anemia you'll have ___iron ___transferrin and ___ ferritin?
fatigue, dizzyness, irritability, roaring, scotomas, HA, palipiltation
Name the 7 general symptoms of Anemia?
WHat condition will pts have blue sclera, dry skin, dysphagia, glottitis, splenomegaly, increaased platelet count, & hair loss?
vitamin C, Meat, Juice, Fish
What 4 foods can increase abosrbtion of iron?
Cereals, Teas, Milk
What 3 foods can decrease iron absorbtion?
thyroid & sex
What 2 types of horrmones are essential for RBC production
C, B6, & B12
Name the 3 vitamins which are essential for RBC production?
Megaloblastic anemia can lead to impaired ?
What ocular disease is caused by megaloblastic anemia (low B12)?
Folic acid anemia
What condition causes the tongue to be red & painful leading to a smooth shiny surface in chronic stages of deficiency?
Most common anemia syndrome other than bld loss, can be classified as normocytic, microcytic, or normochromic, has normal levels of reticulocytes?
Excessive _____ which inhibits the growth of erythroid progenitors can cause ACD?
Collagen vascular disease & Inflamatory Bowel Disease can cause ____condition?
inflamtion, infections, cancer, thryoid disease, renal failure, familiar meditarian syndrome
Name the 5 causes of ACD?
T/F You can treat ACD With IRON therapy?
Anemia of Chronic disease is a Diagnosis of ______?
In what condtion are iron levels low, transferin low, and ferriton high?
Anemia is chronic renal failure is due to reduced production of _____?
Stem cell anemia
Patients with this type of anemia have a hypocellular bone marrow and the only TX is a new bone marrow or else DEATH!
Paroxysmal Nocturnal Hemoglobinuria
What is an aquired chronic anemia arrising from somatic mutation in hematopoietic?
hemogloburia, abdominal pain , & dysphagia
Intravascular hemolysis in PNH cause ? (3)
What test is used to DX PNH?
Myelodysplasic syndrome (MDS)
Clonal hematopoietic stem cell disorder that has ineffective hematopoiesis & peripheral cytopenias mainly effects elderly?
Pure Red Cell Aplasia
Type of anemia where BM stops producing Red blood cells so result is decreased red cell count? but normal WBC & platelets?
Congential ____is known as Farconi's anemia & is idiopmathic in 2/3 of cases?
What condiiton can you get if you have a parvovirus B-19 infection?
TX for adult pure red cell aplasia?
Membrane, enzyme defects, & hemoglobinopathies
What are the 3 intrinsic types of hemolytic anemia?
autoimmune, alloimmune, & RX related & mechanical destruction hemolysis
Name the 3 extrinisc types of hemolytic anemia?
Name the type of extrinisic hemolysis found in new borns?
What is the enzyme defect that causes hemolytic anemia?
What hereditary disorder is caused by a reduction of alpha & beta where aggregates become oxidized damaging cell membranes leading to either hemolysis or ineffective erythropoiesis?
This disorder results in smaller blood cells that are lighter in color ?
____disease results from only having 1 functional beta globulin, which makes hemoglobin succeptible to oxidation, TX is folate?
Barts hydrops fetalis or Alpha thalassemia major
This disease results from NO functional globulin genes, Death will occur before birth?
Minor (Beta) Thalassemia
This arrises from mutations in chromosome 11, results in excess of alpha globuiln & lower beta globulin? Small light
Beta thalassemia Major
____ disease results from complete absence of B globulin, pt will have enlarged spleen & severe anemia; TX with transfusion?
Beta thalassemia major
You TX this disease with chronic transfusions with Chelation therapy to lower iron?
Beta Thalassemia intermediate
This disorder causes late development, exercise intolerance, & high iron levels due to reabsorption in GI?
Barts is a ___tetramer?
microcytosis, hypochromia, poikilocytosis, & RBC counts higher than expected
What are the four traits Severe Thalassemia will exhibit?
Untreated Major B Thalasemia will result in _____ in 1st or 2nd decade of life?
Sibblings wanting to give his brother a BM transplant will only have a ____chance of being a donor?
Cord Bld & BM
Two Transplants to Treat Thalassemia?
In Sickle cell disease, Valine replaces _____ at 6th amino acid position in Hb beta chain, causing cell to lose plasticity, & S clumps together (sickling)
____of beta subunits are replaced with beta S in sickle cell anemia?
Venous tortuosity, vascular occlusions, RPE changes, vitreous hemorages, neovascularization, retinal retraction
Sickle cell anemia effects every major organ,, what are some signs in the eye?
What test is used to determine if someone is a carrier for sickle?
T/F There is NO cure for Sickle cell anemia?
Do not eat FAVA beans in _____deficiency?
In cold autoimmune hemollytic anemia the reacting antibodies are?
What is the reacting antibody causing extravascular hemolysis in WARM autoimmune HA?
In indirect we test ____in direct anti-globulin testing we use patients____?
Cold agglutination occurs at ____Celcius?
Warm agglutination occurs at _____Celcius?
Prednisone is used to treat _____ Anemia?
Malaria & plasmodium falciparum
Name the 2 infections that can result in anemia?
high altitudes, chronic airway disease, & cyanotic heart disease
Name the 3 secondary causes of excessive RBC
____ disorder is accompanied by thrombosis as a result of hyperviscosity & ON swelling?
smoking, CO poisoning, & renal artery stenosis
Name the 3 secondary tissue causes of excessive RBC?
Renal carcinoma & Cushing
Name the 2 diseases which cause inappropriate erthropoeitin production causing excess RBC?
This disease ______is treated with phlebotmoy & myelosuppresive agents which may extend life by 10 years?
Vessel wall, coagulation cascade, & Platelets
what are the 3 Major Hemostasis systems
Fibrin forms in ____mins
Platelet adhesion forms in _____s?
Plug formation occurs in ___mins?
Vessel injuries will favor a thrombogenic or antithrombo environment?
The Response of an organism to prevent blood loss from within the vascular compartment?
Large discharge of blood?
___is self limiting in size, location, extent, and duration in site of bleeding to assist cellular repair processes & then is lysed?
Vitamin K, clot retraction, & Fibrinolysis
What 3 things does normal coagulation have?
_____inactivates fibinogen, prothrombin, & factors 5, 8, & 12?
What 2 functions of the endothelium have to aid hemostasis?
First step in Coagulation cascade?
____ is a pain reception reflex, that occurs only for sm bld vessels, but can reduce bld loss for hours
What factor contributes to platelet adhesion?
ADP & Thromboxane A2 play a role in Platelet___?
gamma & alpha, clotting factors
Name the 3 things that platelets store for platelet plug formation?
ADP, ATP, Ca, serotonin, histamine, Thromboxane A2 are _____grannules?
Fibrinogen, fibronectin, facts, PDGF, & TGF are ____granules?
Adhesion, Release Rxn, & Aggregation
Name the 3 steps from start to finish of Plug formation?
Thromboxane A2 & Serotonin are _____ which reduce blood flow to injured vessel?
Plug is reinforced by ____formed during clotting process?
fibrinogen to fibrin
Thrombin converts ____to ____ which is essential for platelet interaction with other platelets & Repair?
activated platelet membranes
Where does formation of Thrombin take place?
Glue that holds everything together?
Which coagulation pathway invloves kaolin phospholipids calicium?
Which coagulation pathway involves Thromboplastin (Tissue factor + PL) Ca
Which Coagulation pathway is independent of tissue factor & more important but slower at cleaving firbin?
PgI2(prostaclycin), NO, & Protein C/S
Name 3 things that inhibit platelet aggregation?
Plasmin, urokinase, & tPA
Name the 3 things responisble for getting rid of clots?
Failure of normal coagulation could be due to inadequate activity of a ____?
Christmas disease deficient in factor ___?
Vitamin K antagonist?
Thromin takes _____s or less to form a clot?
Heparin, fibrin degradtion, lupus, abnormal fibrinogen
Thrombin time is prolonged in what 4 condtions?
ACtivated partial thromboplastin time normally ____s?
partial thromboplastin time is prolonged due to a decrease to less than 30 % activity of _____coagulation factors?
prothrombin, fibrinogen, fibrin, Ca, polymerization
Name the 5 things responisble for coagulation & clot stabilzation
Antithromin 111 will immediate block fibrin formation when ____is present?
This protein is synthesized in the liver or endothelial cells & directly inactivates thrombin & serine proteases?
Bld disease results in fibro-fatty plaques with lipid deposited in the tunica that are LARGE OR MEDIUM sized?
Bld disease of SMALL arteries or arterioles with thickened vessel walls resulting in lumen narrowing, decreased elasticity with increased PR?
ischemic heart disease
HT, DM, smoking, sex, age, LDL
What are 6 general risk factors for artherosclerosis?
Lack of excercise, obesity, stress
What are 3 soft risk factors for artherosclerosis?
circle of willis
Artery associated with vision that can suffer from artherioscleosis?
aneuroisms, calcifications, thrombosis, hemorrages, & ulceration
Name 5 complications that can result from advanced atherosclerosis?
_____from atherosclerosis will result in pain in limbs, caused by walking but will go away when resting?
Amaurosis fugax & visual field loss
Name two eye symptoms caused by cerebral vascular arteriosclerosis?
Lipid that transfers energy?
Lipid that is the backbone of steroids, nerve tissue formation, & animal cell membrane?
Most cholesterol in serum?
Example of a lipoprotein?
Chylomicrons are made in the ______from fatty foods & travel to the _____where they will enter circulation system?
Cholesterol of cells?
Made in liver & intestine, transfer apoproteins, (reverse cholesterol transport?
Made in liver transfer triglycerides and will eventually become LDL?
Type of reactive reactive leukocytosis that is rare, myeloproliferative leukemia, anaphalatic shocks, & inflammation?
Type of Reactive leuk, associated with chronic infections, TB, lupus, endocartisis, viral infections?
Reactive WBC associated with viral infections, hepatitis, & epstein bar?
Infectious mono which is caused by epstein bar will have HUGE____cells???
Scratch cat fever?
Over production of WBC (mature & immature) in the BM /peripherial blood?
Neoplastic proliferative disease has a solid malignant mass of the lymph nodes & tissue?
___leukemia is associated with kids & blast type cells?
____ Leukemia is associated with old ppl
lymphatic & myleoid
What two cells are affected in leukemia?
Immature _____are found in the blood stream of every leukemia?
internal hemmorage & infections
Death in leukemia is associated with _____ & _____?
radiation, disease, HiV, x rays, chemicals
Name the 5 risk factors of leukemia?
Most common leukemia in kids?
AML & CLL
Two most common leukemia in adults?
AML > CLL > CML = ALL
Name the most common leukemia to least?
Which leukemia has the highest rate of survival (79%)?
Leukemia with survival rate of 66?
Leukemia with survival rate of 24%?
Anemia, granulocytopenia, thrombocytopenia
Name the 3 clinical aspects of Acute Leukemia?
Acute leukemia will have _____ ocular symptom?
Auer rods has to be present in order to have this disease?
80% of children Leukemia?
Remission for ALL Is _____%
5-10% of _____have philadelphia chrom, while 90% of ____have it?
hairy cell, prolymphocytic
Name the 2 subclasses of CLL?
What kind of leukemia is Chronic B line?
myeloid metaplasia, with meylofibrosis
In which leukemia are neoplastic stem cells found in the spleen?
Red ring of bld with a white middle found in leukemia?
Complete remission is defined by being cancer free & TX free for ____yrs?
induction, consolidation, & maintance phase
Name the 3 phases of chemotherapy?
Malignant lymphomas are ___Tumors?
___% of NHL are B line?
_____is used to show nodule architecture in NHL?
No systemic symptoms asscoiated with NHL would be ___stage?
Spreading of the NHL disease from lymph nodes to another organ is ____Stage?
___ann arbor stage both sides of diaphragm?
What ann arbor stage is extranodal sites beyond E?
One lymph node region or structure? Ann Arbor stage?
What neoplastic bld disorder has plasmacytoid differentiation and is a heavy chain disease associated with Ig M?
B cell malignancy has abnormal proliferation of plasma cells able to produce Ig M? Not very common 3-9 cases per 100,000 per yr but DEADLY?
Most cells affected by hodgkin lymphoma are polyclonal or neoplastic?
The presence of ____ cell in Hodgkin lymphoma is necessary to DX?
SOlitary bone lesion due to plasma cell tumor, pt will have normal BM, no anemia, hypercalcimia, or renal disease, normal immunoglobulins?