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N. Rocko, MD

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Which of the following types of mutation causes the premature termination of protein synthesis B A nonsense mutation occurs when a nucleotide substitution within a codon changes the code from that for an amino acid to a stop sequence blood pressure chart and pulse cheap valsartan 40 mg on-line. In the reverse situation heart attack ukulele discount 40mg valsartan, the point mutation changes a termination codon into one for an amino acid and a longer protein is produced heart attack warnings generic valsartan 40 mg on line. A missense mutation occurs when a base substitution alters the codon so that a different amino acid is inserted during translation prehypertension in your 20s effective valsartan 80mg. A frame shift mutation occurs when there is a deletion or insertion of more or less than three bases. B Exons are the components of genes that determine the amino acid sequence of the protein synthesized. D the human genome contains approximately 3 billion base pairs and approximately 25,000 genes. They are subject to selection pressures that cause genes to drift in the population. Over 350,000 such differences are present in the human genome, but very few are associated with human disease. A Approximately 80% of polymorphisms result from single nucleotide substitutions and are called single nucleotide polymorphisms. These are specific base sequences that occur throughout the genome that are repeated at a particular locus. Unlike conventional electrophoresis, a stationary support such as agarose is not used. Instead, a small-bore open tubular column is immersed in buffer solution at its ends and subjected to an electric field. The negative nature of the glass capillary attracts cations that are pulled to the cathode when the voltage is applied. An ultraviolet light detector or laser-induced fluorescence detector is located near the cathode and detects the molecules as they migrate. Such high resolution is possible because very high voltage can be used, since the heat produced is lost through the capillary wall. The process involves three steps that are repeated to double the number of copies produced with each cycle. Annealing occurs when a primer binds upstream to the segment of interest on each strand, called the template. Extension involves the enzymatic addition of nucleotides to the primer to complete the new strand. This breaks the double bonds between the base pairs and is reversible by lowering the temperature. Taq polymerase is obtained from Thermus aquaticus, a bacterium that lives in the hot springs of Yellowstone National Park. Substitute deoxyuridine triphosphate in place of deoxythymidine triphosphate in the master mix C. The formula p2 + 2pq + q2 = 1 describes the distribution of a two-allele gene in a population. After washing to remove the unbound labeled probes, dioxetane is added, and chemiluminescence is measured. This can derive from other samples, positive controls, or amplicons from preceding samples, but the most common source of contamination is by amplicons. The internal control should always be amplified, but the product can be distinguished from the target amplicons. Failure of a sample to demonstrate the internal control product in an assay where positive and negative control reactions are valid indicates the presence of an inhibitor in the sample. Use of aerosol barrier pipette tips when transferring samples or reaction products B.

Once entrapped within their own matrix these cells are properly termed chondrocytes pulse pressure wave discount valsartan 80mg on line. Although adult perichondrium retains some potential to form new cartilage whats prehypertension mean buy valsartan 40mg fast delivery, the capacity for growth and repair is limited by its avascularity arterial generic valsartan 160mg with amex. Where elastic cartilage forms blood pressure variability valsartan 40mg on line, chondroblasts at first elaborate fibers that are neither elastic nor collagenous in character. Fibrous cartilage develops much as does ordinary connective tissue, but some fibroblasts transform into chondroblasts and secrete a small amount of cartilage matrix about themselves. Bone Bone is mesenchymal in origin and develops by replacement of a preexisting tissue. If bone is formed directly in a primitive connective tissue, the process is called intramembranous ossification; when replacement of a preformed cartilaginous model is involved, the process is known as endochondral ossification. In the areas where bone is to form, the mesenchyme becomes richly vascularized, and the cells proliferate actively. Some cells undergo changes that subsequently lead to bone formation and are regarded as osteoprogenitor cells. The osteoprogenitor cells enlarge and transform into osteoblasts that lay down layers of matrix. The plasmalemma of osteoblasts has receptors for parathyroid hormone and 1, 25-dihydroxyvitamin D3 and can be stimulated by these molecules. The osteoblasts remain in contact with one another by long tapering processes, and as more and more matrix is deposited, the cells and their processes become entrapped in the matrix. Ultimately the cells and cell processes are completely enclosed in the matrix, thus forming the lacunae and canaliculi. The first matrix consists of type I collagen fibers embedded in a glycosaminoglycan gel that contains specific glycoproteins and, being unmineralized, is soft. At this stage, the matrix is called osteoid; after a short lag period, it becomes mineralized to form true bone. Osteoblasts elaborate osteocalcin and alkaline phosphatase which hydrolyzes phosphateand calcium-containing substrates to release phosphate and calcium. In addition, osteoblasts release matrix vesicles which concentrate calcium and phosphate during the mineralizing process. Blood alkaline phosphatase levels are good indicators to access not only osteogenesis but also bone repair. As osteoblasts become trapped in the newly deposited matrix and become osteocytes, new osteoblasts are recruited from differentiation of osteoprogenitor cells. Bone development by intramembranous ossification occurs in several foci throughout the mesenchymal field and results in the formation of scattered, irregular trabeculae of bone that increase in size by addition of new bone to their surfaces. In the first formed bone, collagen fibers run in every direction; the bone is called woven bone and has randomly scattered osteocytes and lacks a lamellar arrangement. In areas that become compact bone, such as the inner and outer tables of the skull, the trabeculae continue to thicken by appositional growth, and the spaces between them are gradually obliterated. As bone encroaches on vascular spaces, the matrix is laid down in irregular, concentric layers that surround blood vessels and come to resemble osteons, except that the collagen fibers in the lamellae are randomly arranged. Between the plates of compact bone, where spongy bone persists, thickening of the trabeculae ceases and the intervening connective tissue becomes the blood-forming marrow. The connective tissue surrounding the developing bone condenses to form the periosteum. The osteoblasts on the outer surface of the bone assume a fibroblast-like appearance and are incorporated into the inner layer (cambium) of the periosteum, where they persist as potential bone-forming cells. Similarly, osteoblasts on the inner surface and those covering the trabeculae of spongy bone are incorporated into the endosteum and also retain their potential for producing bone. Endochondral bone formation involves simultaneous formation of the bone matrix and removal of the cartilage model. The cartilage does not contribute directly to the formation of bone, and much of the complex process involved in endochondral bone formation is concerned with removal of cartilage. The first indications of ossification of a long bone appear in the center of the cartilage model in the region destined to become the shaft or diaphysis. In this area, called the primary ossification center, the chondrocytes hypertrophy and their cytoplasm becomes vacuolated. Lacunae enlarge at the expense of the surrounding matrix, and the cartilage between adjacent lacunae is reduced to thin, fenestrated partitions.

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This antibody is not clinically significant in this situation arteria3d pack unity valsartan 160mg for sale, but it needs to be removed to reveal the possible presence of an underlying antibody of clinical significance blood pressure normal lying down buy 80mg valsartan visa. C Anti-Lea is produced primarily by persons with the Le(a-b-) phenotype because Le(a-b+) persons still have some Lea antigen present in saliva hypertension diet plan discount 80mg valsartan amex. Although Lea is not present on their red cells blood pressure medication and memory loss cheap valsartan 80 mg without a prescription, Le(a-b+) persons do not form anti-Lea. B Dosage effect is the term used to describe the phenomenon of an antibody that reacts more strongly with homozygous cells than with heterozygous cells. Compatible blood may not be found for the patient with a strongly reacting anti-M C. Neutralization with hydatid cyst fluid Blood bank/Apply principles of special procedures/ Blood group antibodies/1 10. Anti-Fya, anti-Fyb Blood bank/Apply knowledge of fundamental biological characteristics/Blood group antibodies/1 characteristically gives a refractile mixed-field appearance Anti-s Blood bank/Apply knowledge of fundamental biological characteristics/Blood group antibodies/1 11. D Hydatid cyst fluid contains P1 substance, which can neutralize anti-P1 antibody. The corresponding antigen is characterized as high frequency in the Rh system and can mask the presence of other alloantibodies. Which antibody is frequently seen in patients with warm autoimmune hemolytic anemia Anti-Fyb Blood bank/Apply knowledge of fundamental biological characteristics/Blood group antibodies/1 9. A Adult cells contain mostly I antigen, and anti-I would react with all adult cells found on screen or panel cells. Cord cells, however, contain mostly i antigen and would test negative or only weakly positive with anti-I. C Antibodies to the M and N antigens are IgM antibodies commonly found as cold agglutinins. The k (Cellano) antigen is a high-frequency antigen and is found on most red cells. Rarely, because most individuals have the antigen and therefore would not develop the antibody C. It depends upon the population, because certain racial and ethnic groups show a higher frequency of anti-k D. Impossible to determine without consulting regional blood group antigen charts Blood bank/Calculate/Hemotherapy/1 between an anti-e and anti-Fya in an antibody mixture When you performed the type and screen, the type was O positive and screen was negative. C the 3+3 rule ascertains correct identification of antibody at a confidence level of 95%. For this level to be met, reagent red cells are found containing target antigen to suspected antibody that react in test phase; likewise, reagent red cells devoid of antigen will not react in test phase. Because k-negative individuals are very rare, the occurrence of anti-k is also rare. An enzyme panel, therefore, would enhance reactivity of anti-e and destroy reactivity to anti-Fya. Reactivity with anti-Fya is lost with enzyme-treated red cells, but reactivity with antiJka is enhanced with enzyme-treated cells. A the Kidd antibodies are notorious for disappearing from serum, yielding a negative result for the antibody screen. If a patient has a history of a Kidd antibody, blood must be crossmatched using antigen-negative units. If the patient is transfused with the corresponding antigen, an anamnestic response may occur with a subsequent hemolytic transfusion reaction. A technologist performs an antibody study and 137 finds 1+ and weak positive reactions for several of the panel cells. Several selected panels and a patient phenotype do not reveal any additional information.

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D Siderocytes are red cells containing iron granules and are visible when stained with Prussian blue blood pressure different in each arm order 40 mg valsartan with mastercard. C Excessive anticoagulant causes shrinkage of cells; thus blood pressure drops after exercise buy valsartan 160 mg with visa, the Hct will be affected pulse pressure 93 discount valsartan 80mg with mastercard. D Neutrophils are highly phagocytic and release lysozymes blood pressure essential oils cheap valsartan 160 mg, peroxidase, and pyrogenic proteins. Eosinophils migrate to sites where there is an allergic reaction or parasitic infestation, releasing peroxidase, pyrogens, and other enzymes, including an oxidase that neutralizes histamine. If a patient has a reticulocyte count of 7% and an 5 Hct of 20%, what is the corrected reticulocyte count B In anemic states, the reticulocyte percentage is not a true measure of reticulocyte production. The following formula must be applied to calculate the corrected (for anemia) reticulocyte count. A Osmotic fragility is decreased when numerous sickle cells and target cells are present and is increased in the presence of spherocytes. The osmotic fragility test is increased in the presence of spherocytes, whereas this test is decreased when sickle cells, target cells, and other poikilocytes are present. A decreased osmotic fragility test would be associated with which of the following conditions Centrifugal force for microhematocrit determination should be 12,000 g for 5 min in order to avoid error caused by trapped plasma. The Miller disk is a reticle (grid) that is placed in the eyepiece of the microscope and divides the field into two squares, one being nine times larger in size than the other. What staining method is used most frequently to stain and manually count reticulocytes Cytochemical staining Hematology/Apply knowledge of standard operating procedures/Reticulocytes/1 20. Supravital staining with new methylene blue is used to identify the reticulocytes. Two electrodes suspended in isotonic solutions are separated by a glass tube having a small aperture. A vacuum is applied, and as a cell passes through the aperture it impedes the flow of current and generates a voltage pulse. Given the following values, which set of red blood 7 cell indices suggests spherocytosis C Spherocytes have a decreased cell diameter and volume, which results in loss of central pallor and discoid shape. It depends upon both the mean (average value) and dispersion of results and is most influenced by reproducibility or precision. D Deoxyhemoglobin is the physiological Hgb that results from the unloading of oxygen by Hgb. A Acidosis is associated with a shift to the right of the oxyhemoglobin dissociation curve and, therefore, increased oxygen release (decreased affinity of Hgb for oxygen). Hgb S and Hgb C do not change the affinity of oxygen for hemoglobin; however, many hemoglobinopathies do. For example, Hgb Kansas causes a right shift and Hgb Chesapeake causes a left shift of the oxyhemoglobin dissociation curve. Absolute granulocytopenia is usually present; however, lymphocyte production is less affected. What is the major type of leukocyte seen in the peripheral smear of a patient with aplastic anemia Eosinophil Hematology/Correlate clinical and laboratory data/ Leukocytes/Aplastic anemia/1 percentage (range) in the adult population C the normal adult percentage of lymphocytes in a white cell differential is between 20% and 44%, although normal ranges vary by institution, patient population, and testing methodology.

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