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Clinically the bullae are large chest pain treatment protocol cheap aspirin 100pills line, flaccid phoenix pain treatment center 100pills aspirin with amex, and easily ruptured because of their thin roof sciatic pain treatment pregnancy 100pills aspirin fast delivery. Verruca vulgaris allied pain treatment center youngstown oh discount 100pills aspirin, the most common type of wart, may occur anywhere on the body, but most commonly is located on the dorsal surfaces of the hands. The pho- 472 Pathology tomicrograph reveals characteristic features of verrucae vulgaris, including hyperkeratosis, papillary hyperplasia of the epidermis, and numerous large keratohyalin granules within the epidermal cells. Epidermodysplasia verruciformis is an autosomal recessive disease associated with impaired cellmediated immunity and the widespread development of multiple flat warts. The superficial mycoses are characterized by infection of the superficial layers of the skin. The most common type is pityriasis versicolor (tinea versicolor), an infection of the upper trunk that is caused by M. Clinically, there are multiple groups of macules (discolorations) with a fine peripheral scale. These macules are hyperpigmented (dark) in white-skinned races but hypopigmented (light) in dark-skinned races. The fragments of hyphae are the "spaghetti," while the round yeast cells are the "meatballs. Examination of his peripheral blood reveals leukoerythroblastosis with numerous target cells. Abnormal "tunneling" of osteoclasts into bone trabeculae Abnormal osteoclasts that lack the normal ruffled border Decreased calcification of osteoid matrix Decreased cartilage cell proliferation at epiphyseal plates of long bones Defective synthesis of type I procollagen 448. A 4-year-old boy presents with a history of numerous fractures that are not related to excessive trauma. Physical examination reveals evidence of previous fractures along with abnormally loose joints, decreased hearing, and blue scleras. Osteopetrosis Osteoporosis Osteomalacia Osteogenesis imperfecta Osteitis deformans 473 Copyright 2002 the McGraw-Hill Companies. Physical examination reveals severe kyphosis, while an x-ray of her back reveals a compression fracture of a vertebral body in the lumbar area along with marked thinning of the bones. Serum calcium, phosphorus, alkaline phosphatase, and parathyroid hormone levels are all within normal limits. Osteopetrosis Osteoporosis Osteomalacia Osteitis fibrosa cystica Osteitis deformans 450. Sections of bone showing normal-sized trabeculae that are only partially calcified with enlarged seams of uncalcified osteoid are most likely the result of a. Failure of bone remodeling Failure of bone mineralization Failure of osteoid formation Reactive bone formation Reduction in the amount of normally mineralized bone 451. A section of bone shows prominent osteoid seams, very large osteoclasts with more than 12 hyperchromatic nuclei, and viral-type inclusion particles. The part of a long bone initially involved in hematogenous osteomyelitis is the a. Metaphyseal region Diaphysis Epiphysis Area around the entrance of the nutrient artery Medullary cavity Musculoskeletal System 475 453. Which one of the listed abnormalities is most likely to produce a spinal cord lesion that destroys both bone and the disk space (cartilage) Systemic steroid therapy Irradiation therapy Sickle cell disease Alcoholism Fracture of the femoral neck 455. Histologic sections from a mass diagnosed as being an osteosarcoma would reveal a. Endothelial-lined spaces surrounded by multinucleated giant cells Haphazard arrangement of immature bony trabeculae forming "Chinese letters" Lobules of hyaline cartilage with few cells Malignant anaplastic cells secreting osteoid Thick bone trabeculae with osteoclasts that lack a normal ruffled border 476 Pathology 456. Select the lettered location and general configuration in the diagram below that is most characteristic for osteochondromas. X-rays reveal a round, radiolucent area with central mineralization that is surrounded by thickened bone. Chondroma Chondrosarcoma Osteoblastoma Osteoma Osteoid osteoma Musculoskeletal System 477 458. Which one of the listed statements best describes the most characteristic location and x-ray appearance for a chondroma An 11-year-old boy presents with an enlarging, painful lesion that involves the medullary cavity of his left femur.
Chromosome abnormalities are seen in approximately 1 in 150 live births and are the leading known cause of mental retardation pain treatment in acute pancreatitis buy 100 pills aspirin overnight delivery. The vast majority of fetuses with chromosome abnormalities are lost prenatally: Chromosome abnormalities are seen in 50% of spontaneous fetal losses during the first trimester of pregnancy pain treatment arthritis cheap 100pills aspirin fast delivery, and they are seen in 20% of fetuses lost during the second trimester arch pain treatment running 100 pills aspirin amex. Chromosomes are ordered according to size pain treatment center dr mckellar generic aspirin 100pills, with the sex chromosomes (X and Y) placed in the lower right portion of the karyotype. Metaphase chromosomes can be grouped according to size and to the position of the centromere, but accurate identification requires staining with one of a variety of dyes to reveal characteristic banding patterns. G-banding reveals a pattern of light and dark (G-bands) regions that allow chromosomes to be accurately identified in a karyotype. Chromosome nomenclature Each mitotic chromosome contains a centromere and two sister chromatids because the cell has gone through interphase and has entered mitosis when the karyotype analysis is performed (metaphase). In these chromosomes, the p arm contains little genetic information, most of it residing on the q arm. Most somatic cells are diploid, containing both members of each pair, or 46 chromosomes. Triploidy, which usually occurs as a result of the fertilization of an ovum by 2 sperm cells, is common at conception, but the vast majority of these conceptions are lost prenatally. These babies have multiple defects of the heart and central nervous system, and they do not survive. The two important sex chromosome aneuploidies are Turner syndrome and Klinefelter syndrome. Mosaicism in Turner syndrome is thought to arise in early embryogenesis by mechanisms that are not completely understood. The original cell is diploid for all chromosomes, although only one homologous pair is shown in the figure for simplicity. The other gametes with no copy of chromosome 21 will result in conceptions that are monosomy 21, a condition incompatible with a live birth. In this case, the sister chromatids of a chromosome (for example, chromosome 21) fail to segregate (disjoin). When fertilization occurs, the conception will be a trisomy 21 with Down syndrome. One gamete has no copy of chromosome 21 and will result in a conception that is a monosomy 21. There is no corresponding increase in risk with advanced paternal age; sperm cells are generated continuously throughout the life of the male. Down syndrome can also be screened by assaying maternal serum levels of -fetoprotein, chorionic gonadotropin, and unconjugated estriol. Gametes Metaphase of Meiosis 2 S, G2 Prophase Metaphase of Meiosis 1 Disjunction During Meiosis 1 Homologous chromosomes pair with each other at the metaphase plate. Disjunction During Meiosis 2 During Metaphase 2, each chromosome aligns individually at the metaphase plate. In Anaphase 2, sister chromatids migrate to opposite poles and each daughter cell gets one chromatid. Some alterations may result in a loss or gain of genetic material and are called unbalanced alterations; balanced alterations do not result in a gain or loss of genetic material and usually have fewer clinical consequences. As with other types of mutations, structural alterations can occur either in the germ line or in somatic cells. The latter, although not transmitted to offspring, can alter genetic material such that the cell can give rise to cancer. Translocations High-Yield Translocations occur when chromosomes are broken and the broken elements reattach to other chromosomes. Translocations can be classified into two major types: reciprocal and Robertsonian. If this happens during gametogenesis, the offspring will carry the reciprocal translocation in all his or her cells and will be called a translocation carrier.
Species in which the organism has either male or female reproductive structures are said to be dioecious (meaning "two houses") pain treatment for dogs with cancer purchase 100pills aspirin with amex. Among dioecious species pain management for old dogs 100 pills aspirin free shipping, sex may be determined chromosomally pain and headache treatment center in manhasset ny aspirin 100 pills sale, genetically pain treatment in dvt discount aspirin 100pills otc, or environmentally. Chromosomal Sex-Determining Systems the chromosome theory of inheritance (discussed in Chapter 3) states that genes are located on chromosomes, which serve as vehicles for the segregation of genes in meiosis. Definitive proof of this theory was provided by the discovery that the sex of certain insects is determined by the presence or absence of particular chromosomes. In 1891, Hermann Henking noticed a peculiar structure in the nuclei of cells from male insects. Understanding neither its function nor its relation to sex, he called this structure the X body. McClung studied the X body in grasshoppers and recognized that it was a chromosome. McClung observed that the cells of female grasshoppers had one more chromosome than the number of chromosomes in the cells of male grasshoppers, and he concluded that accessory chromosomes played a role in sex determination. In 1905, Nettie Stevens and Edmund Wilson demonstrated that, in grasshoppers and other insects, the cells of females have two X chromosomes, whereas the cells of males have a single X. In some insects, they counted the same number of chromosomes in the cells of males and females but saw that one chromosome pair was different: two X chromosomes were found in female cells, whereas a single X chromosome plus a smaller chromosome, which they called Y, was found in male cells. Stevens and Wilson also showed that the X and Y chromosomes separate into different cells in sperm formation; half of the sperm receive an X chromosome and the other half receive a Y. This distribution of X and Y chromosomes in sperm accounts for the 1: 1 sex ratio observed in most dioecious organisms (Figure 4. As Stevens and Wilson found for insects, sex in many organisms is determined by a pair of chromosomes, the sex chromosomes, which differ between males and females. A few rare persons have male anatomy, although their cells each contain two X chromosomes. Even though these people are genetically female, we refer to them as male because their sexual phenotype is male. In most eukaryotes, sexual reproduction consists of meiosis, which produces haploid gametes (or spores), and fertilization, which produces a diploid zygote. In this type of sex-determining system, the male is the heterogametic sex-half of his gametes have an X chromosome and half have a Y chromosome. The female is the homogametic sex-all her egg cells contain a single X chromosome. Although the X and Y chromosomes are not generally homologous, they do pair and segregate into different cells in meiosis. They can pair because these chromosomes are homologous in small regions called the pseudoautosomal regions (see Figure 4. In humans, there are pseudoautosomal regions at both tips of the X and Y chromosomes. Secondary pseudoautosomal region the nonsex chromosomes, which are the same for males and females, are called autosomes. We think of sex in these organisms as being determined by the presence of the sex chromosomes, but, in fact, the individual genes located on the sex chromosomes are usually responsible for the sexual phenotypes. In meiosis in females, the two X chromosomes pair and then separate, with one X chromosome entering each haploid egg. In males, the single X chromosome segregates in meiosis to half the sperm cells; the other half receive no sex chromosome. Because males produce two different types of gametes with respect to the sex chromosomes, they are said to be the heterogametic sex. Females, which produce gametes that are all the same with respect to the sex chromosomes, are the Short arms Centromere Y chromosome Long arms X chromosome 4. In both genic sex determination and chromosomal sex determination, sex is controlled by individual genes; the difference is that, with chromosomal sex determination, the chromosomes also look different in males and females. Environmental Sex Determination Genes have had a role in all of the examples of sex determination discussed thus far. However, in a number of organisms, sex is determined fully or in part by environmental factors.
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Nevertheless joint and pain treatment center santa maria ca purchase 100 pills aspirin amex, they can often be distinguished by the frequencies of types of gametes: interchromosomal recombination produces 50% nonrecombinant gametes and 50% recombinant gametes pain treatment center st louis quality aspirin 100 pills, whereas intrachromosomal recombination frequently produces less than 50% recombinant gametes pain treatment centers of america little rock buy aspirin 100 pills mastercard. However pain treatment center milwaukee buy aspirin 100 pills cheap, when the genes are very far apart on the same chromosome, they assort independently, as if they were on different chromosomes. In this case, intrachromosomal recombination also produces 50% recombinant gametes. Intrachromosomal recombination of genes that lie far apart on the same chromosome and interchromosomal recombination are genetically indistinguishable. Determining the proportions of the types of offspring requires an additional piece of information-the recombination frequency. The recombination frequency provides us with information about how often the alleles in the gametes appear in new combinations and therefore allows us to predict the proportions of offspring phenotypes that will result from a specific cross with linked genes. In cucumbers, smooth fruit (t) is recessive to warty fruit (T) and glossy fruit (d) is recessive to dull fruit (D). Geneticists have determined that these two genes exhibit a recombination frequency of 16%. Suppose we cross a plant homozygous for warty and dull fruit with a plant homozygous for smooth and glossy fruit and then carry out a testcross by using the F1: T t D d t t d d C c wx Wx They crossed this heterozygous plant with a plant that was homozygous for colorless and heterozygous for waxy (with both chromosomes normal): C c wx Wx c c Wx wx this cross will produce different combinations of traits in the progeny, but the only way that colorless and waxy progeny can arise is through crossing over in the doubly heterozygous parent: C wx Wx c Crossing over C Wx c c Wx c wx wx Some colored, starchy progeny C Wx c c c wx wx wx Some colorless, waxy progeny Note: Not all progeny genotypes are shown. Notice that, if crossing over entails physical exchange between the chromosomes, then the colorless, waxy progeny resulting from recombination should have a chromosome with an extra piece but not a knob. Furthermore, some of the colored, starchy progeny should possess a knob but not the extra piece. This outcome is precisely what Creighton and McClintock observed, confirming the chromosomal theory of inheritance. Curt Stern provided a similar demonstration by using chromosomal markers in Drosophila at about the same time. We will examine the molecular basis of recombination in more detail in Chapter 12. Four types of gametes will be produced by the heterozygous parent, as shown in Figure 7. The of recombinant gametes (T recombination frequency tells us that 16% of the gametes produced by the heterozygous parent will be recombinants. Because there are two types of recombinant gametes, each should arise with a frequency of 16%/2 = 8%. All the other gametes will be nonrecombinants; so they should arise with a frequency of 100% - 16% = 84%. Because there are two types of nonrecombinant gametes, each should arise with a frequency of 84%/2 = 42% (or 0. The other parent in the testcross is homozygous and therefore produces d) with a frequency only a single type of gamete (t of 100% (or 1. The expected proportion of each type can be determined by using the multiplication rule, multiplying together the probability of each gamete. Warty, dull fruit Testcross Smooth, glossy fruit d from the recessive parent) with chromosome t = 0. The proportions of the other types of F2 progeny can be calculated in a similar manner (see Figure 7. This method can be used for predicting the outcome of any cross with linked genes for which the recombination frequency is known. In other crosses, the difference between independent assortment and linkage is not so obvious. Is this outcome the 1: 1: 1: 1 ratio we would expect if A and B assorted independently Perhaps these genes assorted independently and chance produced the slight deviations between the observed numbers and the expected 1: 1: 1: 1 ratio. Alternatively, the genes might be linked, with considerable crossing over taking place between them, and so the number of nonrecombinants is only slightly greater than the number of recombinants. How do we distinguish between the role of chance and the role of linkage in producing deviations from the results expected with independent assortment We encountered a similar problem in crosses in which genes were unlinked-the problem of distinguishing between deviations due to chance and those due to other factors. We addressed this problem (in Chapter 3) with the goodnessof-fit chi-square test, which helps us evaluate the likelihood that chance alone is responsible for deviations between the numbers of progeny that we observed and the numbers that we expected by applying the principles of inheritance.
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