Term
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Definition
| ___ is the abnormal reduction in total RBC mass. |
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Term
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Definition
| ___ may manifest in the number of RBCs, the quantity of hemoglobin or the volume of packed RBCs. |
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Term
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Definition
| ____ anemia presents in 5-30% of females especially pre-menopausal experiencing chronic blood loss (menstruation / occult malignancy), insifficient intake, faulty absorption or increased requirements (pregnancy). |
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Term
| mycrocytic hypochromic (small / pale RBCs) |
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Definition
| Iron-deficiency anemia is a ___ ___ anemia. |
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Term
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Definition
| ___ ___ is a bald, shiny tongue characteristic of iron deficiency anemia. |
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Term
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Definition
| ___ is hair loss associated with iron deficiency anemia. |
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Definition
| ___ describes spoon shaped finger nails characteristic of iron deficiency anemia. |
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Term
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Definition
| ___ anemia is treated by correcting the source of chronic blood loss or malabsorption or with supplements. |
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Term
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Definition
| Iron supplements are usually accompanied by ___ and a high protein diet. |
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Term
| Megaloblastic = megalocytic = macrocytic |
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Definition
| ___ anemias have large / pale RBCs. |
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Term
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Definition
| Since RBCs in ___ anemias are destroyed early because they are abnormal. Hematopoiesis also slows down. |
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Term
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Definition
| ___ anemias have either Vitamin B-12 or folic acid deficiency. |
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Term
| vitamin b-12 / folic acid |
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Definition
| Megaloblastic anemias have either ___ or ___ deficiencies. |
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Term
| vitamin b-12 = megaloblastic anemia |
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Definition
| ___ deficiency may be due to autoimmune gastriti, surgery, achlohydria, malabsorption, increased requirements or inadequate diet. |
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Term
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Definition
| Vitamin B-12 deficiency is also called ___ anemia. |
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Term
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Definition
| ___ is the inability to split R protein from B12 characteristic of pernicious anemia. |
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Term
| folic acid deficiency = megaloblastic anemia |
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Definition
| ___ defiency is especially common in alcoholics, also bowel diseases (celiac disease/tropical sprue), chronic phenytoin users or pregnant women. |
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Term
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Definition
| Generalized weakness, atropic glossitis, lemon-yellow pallor, diarrhea, nausea, vomiting, shortness of breath and drowsiness are characteristics of ___ anemia. |
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Term
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Definition
| In ___ deficiency (megaloblastic anemia), degradation of posterior and lateral tracts of spinal cord and peripheral tingling (due to demyelination of nerves) are classical clinic presentations. |
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Term
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Definition
| ___ is the malignancy of circulating WBCs. It has acute and chronic forms. |
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Term
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Definition
| ___ affects males more often than females. In general the younger, the more acute the leukemia. Need blood/bone marrow analysis to predict cell type. |
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Term
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Definition
| ___ leukemia presents with weakness, fever, headache, lymphadenopathy and anemia. The spleen, liver, kidneys and other organs may enlarge because of infiltrates. Hemorrhages and petecchiae due to thrombocytopenia. Infections often cause death. |
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Term
| acute myelogenous leukemia (AML) |
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Definition
| ___ ___ leukemia has non-lymphoid lineages. It contains myeloid, monocytic, erythroblastic and megakaryocytic cells. It occurs mainly in adulthood, 70% get remission, 30% survive 3 years. |
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Term
| acute lymphocytic leukemia |
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Definition
| ___ ___ leukemia is a disease of children. T-cell differentiation occurs if there is an abnormal t-cell receptor. B-cell differentiation occurs if there is an abnormality of Ig genes. Remission occurs in 90% of kids, 80% of adults. |
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Term
| acute lymphocytic leukemia / t-cell receptor / Ig genes |
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Definition
| ___ cause t-cell differentiation in ALL. ___ cause b-cell differentiation in ALL. |
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Term
| chronic aspects of leukemia |
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Definition
| ___ leukemia has a slow onset and lymphadenopathy sometimes occurs. Hepatosplenomegaly, enlarged tonsils and salivary glands, bruised skin with nodules or sores, and destructive bone lesions may result in fractures. |
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Term
| Chronic myelogenous leukemia (CML) |
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Definition
| ___ ___ leukemia's median age is 60years old, male > females 3:1. Pluripotent stem cell is malignant but not aggressive until blast phase. |
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Term
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Definition
| ___ ___ cell is malignant in chronic myelogenous leukemia. |
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Term
| chronic myelogenous leukemia |
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Definition
| Chemotherapy, interferon and marrow transplant are used to treat __ __ leukemia. |
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Term
| chronic lymphocytic leukemia (CLL) |
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Definition
| ___ ___ leukemia tends to have slow onset at age 30-50 years. It may progress to a rapidly fatal blast phase. Can have B/T cell type and the overall life expectancy is 2-10years. |
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Term
| viral (HTLV-1/2 target CD4 cells, EBV), environmental (chemicals - benzol/aniline dyes or radiation), chromosomal abnormalities (philadelphia chromosome or trisomy 21) |
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Definition
| The etiology of leukemias can be ___, __ or ___ ___. |
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Term
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Definition
| ___ is a malignancy of WBCs that don't circulate. It is usually found in lymph nodes and lymphoid organs. |
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Term
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Definition
| Patients with Sjorgren syndrome, organ transplants, AIDS or congenital immune deficiencies are at an increased risk of ___. |
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Term
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Definition
| ___ affects the soft tissues of the oral cavity with diffuse non-tender reddish or purple swellings with a boggy consistency on posterior hard palate more often than buccal mucosa or gingivae. |
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Term
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Definition
| Burkitt's lymphoma is a ___ grade non-hodgkin lymphoma. It is a small non-cleaved cell type of lymphoma found within jaws of African children. |
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Term
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Definition
| ___ lymphoma has a starry sky histological appearance. |
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Term
| MALT (mucosa-associated lymphoid tissue) |
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Definition
| ___ lymphomas are low-grade lymphomas localized to mucosa. Lymphoproliferative disease of palate is a precursor. |
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Term
| lymphoproliferative disease of palate |
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Definition
| ___ is a precursor of MALT lymphoma. |
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Term
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Definition
| Reed-Sternberg cells are found in malignancies of ___ lymphoma. |
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Term
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Definition
| ___ lymphoma affects males > females and the incidence peaks in 20s and 50s. It affects lymph nodes exclusively and is uncommon in the oral cavity. |
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Term
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Definition
| ___ is familial; inherited from parents. |
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Term
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Definition
| ___ is present at birth, but not necessarily inherited. |
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Term
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Definition
| ___ is the percentage of individual carrying autosomal dominant gene and expressing the trait. |
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Term
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Definition
| ___ ___ is the variable expression of autosomal dominant trait in affected individuals. |
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Term
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Definition
| ___ mutation is the substitution of a single base pair. |
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Term
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Definition
| ___ is any permanent change in DNA. |
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Term
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Definition
| ___ mutation is when there is an insertion or deletion of 1 or 2 base pairs. |
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Term
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Definition
| ___ ___ mutation is the amplification of a sequence of 3 nucleotides. |
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Term
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Definition
| Autosomal ___ mendelian disorders ares ones in which everyone who carries the gene is affected. |
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Term
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Definition
| In autosomal ___ disorders, usually one parent is affects and the other parent is normal. Sometimes the mutation is sporatic and neither parent carries it, but both parents are rarely affected. |
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Term
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Definition
| Autosomal ____ disorders usually involve structural or regulatory proteins. Males and females are affected equally and each pregnancy has at least 50% risk of affect child. Non-affected children are not carriers. |
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Term
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Definition
| Autosomal ___ disorders are when both copies of gene must carry the mutation for it to be expressed. |
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Term
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Definition
| In autosomal ___ disorders, if the mutation is expressed, all offspring will inherit the defective gene (since both copies of the gene are affected). If only one copy is affect, the patient is a carrier. |
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Term
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Definition
| Autosomal ___ disorders are often enzyme proteins rather than structural proteins. They include most inborn errors of metabolism and the age of onset is usually young. |
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Term
| x-linked (sex-linked) disorders |
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Definition
| ___ disorders are usually recessive. They are fully expressed in males, but heterozygous females usually express disease partially. |
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Term
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Definition
| The ___ ___ is present in x-linked disorders. Female has 2X chromosomes, but one is inactivated. If the active X chromosome carries the mutation, it will express it. |
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Term
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Definition
| Marfan Snydrome, Ehlers-Danlos syndrome and Osteogenesis imperfecta are examples of mendelian diseases with mutations in the ___ ___. |
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Term
| Marfan syndrome (defective fibrillin -- important in collagen leading to weak connective tissue) |
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Definition
| ___ ___ is a heritable disorder of the connective tissue. It affects many organ systems (skeleton, lungs, eyes, heart, blood vessels) and is an autosomal dominant disorder of structural proteins. |
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Term
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Definition
| Marfan syndrome is a mendelian disease caused by a mutation in structural protein leading to defective ____. |
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Term
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Definition
| Mitral valve prolapse, weak aorta, tall, scoliosis, losse joints, nearsighted and dislocated lenses are characteristics of ___ ___. |
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Term
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Definition
| Who is the stereotypical patient with Marfan Syndrome? |
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Term
| Ehlers-Danlos syndrome (soft, velvet-like skin, bruise easily, severe scarring, slow/poor wound healing) |
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Definition
| ____ ____ is a heterozygous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility and tissue fragility. |
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Term
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Definition
| TMJ dislocations, joint pain and early onset osteoarthritis are characteristics of which Mendelian disease. |
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Term
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Definition
| Blue sclera is a characteristic of which Mendelian disease with autosomal dominant and autosomal recessive types? |
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Term
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Definition
| ___ ___ is also known as brittle bone disease. blue sclera and dentinogenesis imperfect are characteristics. |
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Term
| Familial Hypercholesterolemia |
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Definition
| ___ ___ is the most common Mendelian disorder which is caused by a mutation for LDL receptor on hepatocytes leading to LDL accumulating in plasma. |
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Term
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Definition
| ___ ___ is autosomal recessive and is the most common lethal genetic disease in Caucasians. |
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Term
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Definition
| ___ ___ is caused by a defect in chloride transport protein. Patients present with salty sweat and thick mucous secretions in the pancreas, lungs and salivary glands. |
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Term
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Definition
| ___ ___ may lead to diabetes due to atrophy of the pancreas. |
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Term
| meconium ileus... it can also occur in adults and is called acquired segmental megacolon |
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Definition
| ___ ___ is the obstruction of the intestine in a newborn with cystic fibrosis. |
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Term
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Definition
| The tumor suppressor gene ___ prevents retinoblastoma. Gene ____ prevents neurofibromatosis type I. Gene ___ prevents most human cancers and many oral carcinomas. If these are mutated twice, the neoplasms will occur. |
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Term
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Definition
| Galactosemia, glycogen storage disease and lysosomal storage disease are mutations in ___ ___. Most are autosomal recessive and the parents are usually unaffected carriers. |
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Term
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Definition
| ___ is caused by missing step of the enzymatic process that converts lactose to glucose/galactose. |
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Term
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Definition
| ____ disease is a lysosomal storage disease. It is prominent in Ashkenazic Jews and French Canadians. |
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Term
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Definition
| ____ disease is a lysosomal storage disease caused by a deficiency in sphingomyelinase causing sphingomelin to accumulate in macrophages, neurons and other cells causing them to look foamy. |
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Term
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Definition
| ___ disease is a lysosomal storage disease caused by a defective enzyme glucocerebrosidase leading to foamy cells. |
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Term
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Definition
| ____ is a lysosomal storage disease with hurler syndrome and hunter syndrome as two subtypes. |
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Term
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Definition
| ___ is also called gargoylism due to the coarse face and skeletal anomalies caused by the defective degradation of mucopolysarrharides. |
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Term
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Definition
| ___ is the disorder of uric acid metabolism. It creates inflammatory foci called tophi. |
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Term
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Definition
| Risk factors for ___ include obesity, HTN and alcohol use. It is treated with colchine and probenecid or allopurinol. |
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Term
| monosomy, trisomy, mosaicism |
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Definition
___ is one less normal chromosome (2n-1).
___ is one more extra chromosome (2n+1).
___ is one or more populations of cells, some with normal numbers of chromosomes and others with extra or missing chromosomes. |
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Term
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Definition
| ___ cytogenic abnormalities result from errors during cell division. Imbalances are better tolerated in sex chromosomes. |
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Term
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Definition
| ___ cytogenic abnormalities include translocation in which a gene transfers from one chromosomes to another. |
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Term
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Definition
| Down syndrome is a ___ cytogenic abnormality. Burkitt lymphoma and CML are ___ cytogenic abnormality. |
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Term
| downs syndrome (trisomy 21) |
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Definition
| Fissured / enlarged tongue, open mouth, narrow palate, bifid uvula, tooth malformations and rampant periodontitis are oral findings of ___ ___. |
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Term
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Definition
| XXY males (usually XY) have ____ syndrome. |
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Term
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Definition
| Women lacking part of X chromosome have ___ syndrome. |
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