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Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 223 – LYSOSOMAL STORAGE DISEASES Margaret M. McGovern   Robert J. Desnick The lysosomal storage diseases are a family of more than 40 disorders resulting from different defects in lysosomal function. Although most of these disorders are caused by deficiency of a specific hydrolytic enzyme, others are […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 217 – DISORDERS OF LIPID METABOLISM Clay F. Semenkovich In industrialized countries, many adults are aware of the relationship between abnormal lipid metabolism and vascular disease. Terms such as “bad cholesterol” are entrenched in popular culture because of the availability of effective lipid-modifying therapies […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Section XVI – Metabolic Diseases Chapter 216 – APPROACH TO INBORN ERRORS OF METABOLISM Louis J. Elsas II Definition Metabolism is a collective term for integrated biochemical processes of the intact organism, differentiated organ, cell, and subcellular organelle. Normal metabolism enables homeostasis for the organism by maintaining anabolic […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 192 – PRINCIPLES OF CANCER THERAPY Michael C. Perry Diagnosis Approach to the Patient with Cancer Few diagnoses produce such emotional responses as “cancer” or “leukemia,” and the first moments after those words are uttered often produce a storm of feelings that limit useful […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 170 – MEGALOBLASTIC ANEMIAS Aśok C. Antony Definition Megaloblastic anemias, a group of disorders characterized by a distinct morphologic pattern in hematopoietic cells, are commonly due to deficiency of vitamin B12 (cobalamin) or folates. Folates and cobalamin are both required to sustain one-carbon metabolism, […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 169 – NONHEMOLYTIC NORMOCHROMIC, NORMOCYTIC ANEMIAS Ayalew Tefferi Definition For practical purposes, it is reasonable to define “normocytic” anemia strictly as a mean corpuscular volume (MCV) reading that lies within the normal reference range (approximately 80 to 100 fL) ( Chapter 162 ) and […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 166 – HEMOGLOBINOPATHIES: THE THALASSEMIAS Griffin P. Rodgers Definition The thalassemia syndromes are a heterogeneous group of inherited anemias characterized by defects in the synthesis of one or more globin chain subunits of the adult hemoglobin tetramer (HbA). Patients with β-thalassemia have a decrease […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 164 – AUTOIMMUNE AND INTRAVASCULAR HEMOLYTIC ANEMIAS Robert S. Schwartz Definition The immune-mediated hemolytic anemias comprise a group of disorders in which antibodies, complement, and macrophages, usually acting in concert, send the patient’s red blood cells to a premature demise. In the most common […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 162 – APPROACH TO THE ANEMIAS Kenneth S. Zuckerman Definition Anemia is defined as a reduction in the number of circulating erythrocytes. It is a common manifestation of primary bone marrow disorders (resulting in impaired production of erythrocytes), primary abnormalities of erythrocytes (resulting in […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 161 – THE PERIPHERAL BLOOD SMEAR James R. Newland Wright-Giemsa–stained peripheral blood is examined for its formed elements: red blood cells (RBCs), white blood cells (WBCs), and platelets. A careful review of the peripheral smear is useful when a patient has an abnormal WBC […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 151 – ACUTE VIRAL HEPATITIS Jay H. Hoofnagle Definition Acute viral hepatitis is a distinct clinical syndrome that can be caused by five separate, unrelated viruses. Clinically, acute viral hepatitis is marked by symptoms of malaise, nausea, poor appetite, vague abdominal pain, and jaundice; […]

Goldman: Cecil Medicine, 23rd ed. Copyright © 2007 Saunders, An Imprint of Elsevier Chapter 89 – CYSTIC FIBROSIS Michael J. Welsh Definition Cystic fibrosis is an autosomal recessive genetic disease caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). It is relatively common, with an incidence of 1 in 2000 to 3000 whites; […]

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