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Chapter 064. The Practice of Genetics in Clinical Medicine (Part 6)

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Follow-Up Care after Testing. Depending on the nature of the genetic disorder, posttest interventions may include (1) cautious surveillance and appropriate health care screening, (2) specific medical interventions, (3) chemoprevention, (4) risk avoidance, and (5) referral to support services. For example, patients with known pathologic mutations in BRCA1 or BRCA2 are offered intensive screening as well as the option of...

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 7)

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Familial AD CDKN Avoidance of. AD PTCH Avoidance of UV light. Factor V Leiden AD F5 Avoidance of. XL G6PD Avoidance of oxidant drugs. AR PI Avoidance of. Avoidance of occupational and environmental toxins. AD CASR Avoidance of parathyroidectomy. AD RYR1 Avoidance of precipitating anesthetics

Chapter 064. The Practice of Genetics in Clinical Medicine (Part 8)

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Identification of familial forms of long QT syndrome, associated with ventricular arrhythmias, allows early electrocardiographic testing and the use of prophylactic antiarrhythmic therapy, overdrive pacemakers, or defibrillators (Chap. Individuals with familial hypertrophic cardiomyopathy can be screened by ultrasound, treated with beta blockers or other drugs, and counseled about the importance of avoiding strenuous exercise and dehydration (Chap. Likewise, individuals with...

Chapter 066. Stem Cell Biology (Part 1)

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67), patient-derived stem cells can also provide disease models and a means to test drug effectiveness.. Identification, Isolation, and Derivation of Stem Cells. Resident Stem Cells. The definition of stem cells remains elusive. Stem cells were originally postulated as unspecified or undifferentiated cells that provide a source of renewal. These resident stem cells are now identified in a variety of...

Chapter 066. Stem Cell Biology (Part 2)

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Self-Renewal and Proliferation of Stem Cells. Asymmetric cell division does not increase the number of stem cells. For stem cells to proliferate in vitro, they must divide symmetrically. Resident stem cells are often quiescent and divide infrequently. However, once the stem cells are successfully cultured in vitro, they often acquire the capacity to divide continuously and the ability to proliferate...

Chapter 067. Applications of Stem Cell Biology in Clinical Medicine (Part 1)

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Applications of Stem Cell Biology in Clinical Medicine. Applications of Stem Cell Biology in Clinical Medicine: Introduction. Endogenous stem cells in tissues such as liver and skin have a remarkable ability to regenerate the organs, whereas heart and brain have a much more limited capability for self-repair. Under rare circumstances, circulating stem cells may contribute to regenerative responses by migrating...

Chapter 067. Applications of Stem Cell Biology in Clinical Medicine (Part 2)

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Hematopoietic stem cells (HSCs) (Chap. Stem cells offer the possibility of a renewable source of cell replacement for virtually all organs.. 67-1): (1) injection of stem cells directly into the damaged organ or into the circulation, allowing them to "home". (2) in vitro differentiation of stem cells followed by transplantation into a damaged organ—e.g., pancreatic islet cells could be generated...

Chapter 067. Applications of Stem Cell Biology in Clinical Medicine (Part 3)

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The search for a renewable source of stem cells capable of regenerating pancreatic islets has therefore been intensive.. A number of different cell types are candidates for use in stem cell replacement, including ES cells, hepatic progenitor cells, pancreatic ductal progenitor cells, and bone marrow stem cells. Multipotential stem cells also reside within gastric glands and intestinal crypts.. stem cells...

Chapter 067. Applications of Stem Cell Biology in Clinical Medicine (Part 4)

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Applications of Stem Cell Biology in Clinical Medicine. The use of stem cells in regenerative medicine has been studied for many other organ systems and cell types, including skin, eye, cartilage, bone, kidney, lung, endometrium, vascular endothelium, smooth muscle, striated muscle, and others. In fact, the potential for stem cell regeneration of damaged organs and tissues is virtually limitless. However,...

Chapter 068. Hematopoietic Stem Cells (Part 1)

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Hematopoietic Stem Cells (Part 1). Hematopoietic Stem Cells. Hematopoietic Stem Cells: Introduction. poiesis: creation) stem cells. If the hematopoietic stem cell is damaged and can no longer function (e.g., due to the nuclear accident at Chernobyl), a person would survive 2–4 weeks in the absence of extraordinary support measures. Stem cells produce tens of billions of blood cells daily from...

Chapter 068. Hematopoietic Stem Cells (Part 2)

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Hematopoietic Stem Cells (Part 2). Developmental Biology of Hematopoietic Stem Cells. These intraembryonic sites engage in sequential order, moving from the genital ridge at a site where the aorta, gonadal tissue, and mesonephros are emerging to the fetal liver and then, in the second trimester, to the bone marrow and spleen. As the location of stem cells changes, the relative...

Chapter 068. Hematopoietic Stem Cells (Part 3)

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Hematopoietic Stem Cells (Part 3). Excess Capacity of Hematopoietic Stem Cells. In the absence of disease, one never runs out of hematopoietic stem cells.. Indeed, serial transplantation studies in mice suggest that sufficient stem cells are present to reconstitute several animals in succession, with each animal having normal blood cell production. The fact that allogeneic stem cell transplant recipients also...

Chapter 068. Hematopoietic Stem Cells (Part 4)

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Hematopoietic Stem Cells (Part 4). Stem cells are multipotent. SCF, stem cell factor. The hematopoietic stem cell must balance its three potential fates:. memory T and B cells and among stem cells. Self-renewal capacity gives way to differentiation as the only option after cell division when cells leave the stem cell compartment, until they have the opportunity to become memory...

Chapter 068. Hematopoietic Stem Cells (Part 5)

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Hematopoietic Stem Cells (Part 5). Some limited understanding of self-renewal exists and, intriguingly, implicates gene products that are associated with the chromatin state, a high-order organization of chromosomal DNA that influences transcription. These include members of the polycomb family, a group of zinc finger–containing transcriptional regulators that interact with the chromatin structure, contributing to the accessibility of groups of genes...

Chapter 069. Tissue Engineering (Part 1)

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Tissue Engineering (Part 1). Tissue Engineering. Tissue Engineering: Introduction. The origins of tissue engineering date to the sixteenth century when complex skin flaps were used to replace the nose. Modern tissue engineering combines the disciplines of materials sciences and life sciences to replace a diseased or damaged organ with a living, functional substitute.. The most common tissue engineering approach combines...

Chapter 069. Tissue Engineering (Part 2)

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Tissue Engineering (Part 2). A scaffold provides a three-dimensional framework to support the tissue or organ-specific cells. The scaffold not only provides mechanical support, but it must also supply critical nutrients and transport metabolites to and from the developing tissue. Important scaffold properties vary depending on the tissue but typically include specific biomechanical properties, porosity, biocompatibility, and appropriate surface characteristics...

Chapter 069. Tissue Engineering (Part 3)

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Tissue Engineering (Part 3). Table 69-2 Tissue-Engineering Products in Clinical Trials. Challenges to Tissue Engineering. The greatest success in tissue engineering to date has been in tissues such as skin and cartilage where the requirements for nutrients and oxygen are relatively low. Off-the-shelf availability will need to be addressed for tissue engineering products to be used widely. Lavik E, Langer...

Chapter 070. Nutritional Requirements and Dietary Assessment (Part 1)

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Nutrients are substances that must be supplied by the diet because they are. not synthesized in the body in sufficient amounts. Nutrient requirements for groups of healthy persons have been determined experimentally. Specific nutrient requirements include 9 essential amino acids, several fatty acids, 4 fat-soluble vitamins, 10 water-soluble vitamins, and choline. Several inorganic substances, including 4 minerals, 7 trace minerals,...

Chapter 070. Nutritional Requirements and Dietary Assessment (Part 2)

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For adults, 1.0–1.5 mL water per kcal of energy expenditure is sufficient under usual conditions to allow for normal variations in physical activity, sweating, and solute load of the diet. Water losses include 50–100 mL/d in the feces, 500–1000 mL/d by evaporation or exhalation, and, depending on the renal solute load, ≥1000 mL/d in the urine. Fever increases water losses...

Chapter 070. Nutritional Requirements and Dietary Assessment (Part 3)

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Note: This table presents recommended dietary allowances (RDAs) in bold type and adequate intakes (AIs) in ordinary type. RDAs are set to meet the needs of almost all individuals (97 to 98%) in a group. For healthy breastfed infants, the AI is the mean intake. The AI for other life stage and gender groups is believed to cover needs of...