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General principles of physiology

Foundations of homeostasis Life functions (e.g., growth and development, reproduction, breathing, cognition, movement, self-defense, and responses to environmental stress) require either the input of energy into the body or the transformation of energy from one form to a more useful form by the body. For anything to happen in an organism, there must be a force, an energy, or work in the form of some gradient—chemical,…

Case Based Problems Discussion

Chapter 1 : Organ Systems and Tissues 1. In human development the brain and the spinal cord are derived from a. endoderm b. ectoderm c. mesoderm d. yolk sac e. none of the above The correct answer is b 2. Oviducts and uterus are derived from a. myotome b. mesonephros c. Mullerian ducts d. endoderm e. all of the above The correct answer is c 3.…

Blood and Lymphatic System

Deep Vein Thrombosis The normal function of a blood clot is to increase wound healing. However, when a clot is formed in a major blood vessel (often in the leg) unrelated to wound healing, it can be a major threat to life. Adventitious clot formation can occur when an individual spends long periods of time without movement, such as when sitting in a car or plane…

Vitamins and Nutrition

Vitamin D Deficiency There are many locations in North America and around the world where sunlight is limited. As many as half or more patients seen in clinical practice may be deficient in vitamin D, indicating the seriousness of this problem. Children growing up in a region with limited sunlight and remaining there as adults often prove to be vitamin D deficient and at risk for…

Micronutrients (Metals and Iodine)

Iron-deficiency Anemia Estimates by the World Health Organization are that 30% of the world’s population is anemic, and of these, half is due to the most common form of anemia, iron-deficiency anemia ( IDA ). IDA is the result of inadequate consumption of dietary iron. The diminished capacity of persons with IDA results in lowered efficiency of job performance, indirectly affecting the economy. IDA in children…

Membrane Transport

Cystic Fibrosis (Mucoviscidosis) and Aberrant Ion Transport A mutation in the gene for a chloride ion transporter gives rise to this disease. The transporter protein is called the cystic fibrosis transmembrane conductance regulator ( CFTR ). CFTR regulates the passage of chloride and sodium ions across epithelial membranes ( Fig. 18.1 ). A more realistic structure of the CFTR channel is shown in Fig. 18.2 .…

Growth Factors and Cytokines

Prospects for Cytokine Tumor Necrosis Factor–Related Apoptosis-Inducing Ligand and Ovarian Cancer Among gynecological cancers , ovarian cancer causes more deaths than the others. One of the problems is that ovarian cancer is often diagnosed when it has already progressed to a late stage. Even when initial treatment seems successful, the cancer can reoccur and when this happens, the cancer is usually not curable. During a lifetime,…

Steroid Hormones

Steroid hormones play a major role in bodily functioning because they are required for many critical physiological processes, including survival of stress, injury (and illness), metabolism, inflammation, salt and water balance, immune functions, and development of sexual characteristics. Notably, the steroid hormone, cortisol , is required for adaptation (in particular, to stress and to changing environments) and human life is not possible in its absence. In…

Polypeptide Hormones

Panhypopituitarism: Malfunction of the Hypothalamus–Pituitary–End Organ Axis The pituitary is the source of several hormones that control many essential terminal hormonal functions. These include signals from the anterior pituitary that governs the stress hormone, cortisol from the adrenal cortex, the thyroid hormone from the thyroid gland, growth hormone (GH) from the anterior pituitary, sex hormones from the gonads of both male and female, the reabsorption of…

Metabolism of Fat, Carbohydrate, and Nucleic Acids

Gaucher’s Disease: Most Common Lipid Storage Disease This is an autosomal recessive disease resulting from a mutation in the gene for glucocerebrosidase . The genetic mutation is received from both parents as shown in Fig. 14.1 . As shown in the fourth panel of the figure ( lower left ), when both parents are carriers but do not exhibit the overt disease, one in four offsprings…

Metabolism of Amino Acids

Urea Cycle–Related Disease: Hyperammonemia The urea cycle is one of the metabolic pathways that will be discussed in this chapter. The urea cycle eliminates unneeded nitrogen, derived from nitrogen-containing compounds, from the body in the form of urea. Many amino acids can be converted to glutamate that can, in turn, be converted to aspartate . Aspartate can enter the urea cycle to produce urea for excretion…

Transcription

Congenital Heart Disease: Mutations of Transcription Factors Normal Heart Development The progenitor cells for mammalian heart development are located in the anterior lateral plate mesoderm. At about day 15 of human embryonic development, the progenitor cells condense into two lateral heart primordia. These include lineage precursors for the myocardial and endocardial lineages. At 3 weeks of human development, the cardiac precursors move toward the center, forming…

Protein Biosynthesis

Defects in Mitochondrial Oxidative Phosphorylation and Disease: Deficiency in Mitochondrial Translation There are 13 proteins encoded by the mitochondrial genome (mitochondrial DNA) that comprise the respiratory chain (Fig. 14.19) located in the inner mitochondrial membrane. About 150 different proteins are required for the translation of these 13 respiratory chain proteins. Translation deficiencies caused by nuclear gene mutations generate mutations in transfer RNA (tRNA), ribosomal RNA (rRNA),…

Nucleic Acids and Molecular Genetics

Huntington’s Disease, A Single-Gene Mutation There are 4000 or more human diseases caused by a single-gene mutation. Huntington’s disease is an example of an autosomal dominant disease . There are many others like this: Marfan syndrome, neurofibromatosis, retinoblastoma, myotonic dystrophy, familial hypercholesterolemia, adult polycystic kidney disease, familial adenomatous polyposis, hypertrophic obstructive cardiomyopathy , and osteogenesis imperfecta to name a few. In autosomal recessive diseases , one…

Lipids

Hypercholesterolemia Cholesterol , a critical structural element, comprises about 25% of the cell membrane and occurs in an equal proportion to phospholipid constituents (Fig. 2.7). It provides some rigidity to an otherwise completely flexible membranous structure. Its presence in the membrane facilitates the diffusion of nonpolar molecules. Cholesterol is essential to life. However, disease situations occur when blood cholesterol cannot be handled properly, that is, when…

Glycolysis and Gluconeogenesis

Hemolytic Anemia: Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency (A Rare Disease) Hemolytic Anemia In the process of its maturation, the red blood cell ( RBC ) eliminates many of its subcellular structures, including the cell nucleus, mitochondria, endoplasmic reticulum, and Golgi apparatus to maximize storage capacity for hemoglobin ( Hb ). Because of the lack of mitochondria for oxidative metabolism, the RBC is dependent on glycolysis for its energy…