Disorders of Cholesterol Synthesis Peter T. Clayton The isoprenoid synthesis pathway (Fig. 164-1) leads to the synthesis of cholesterol, haem A, ubiquinone, dolichol, farnesyl-pyrophosphate, and geranylgeranyl-pyrophosphate. When cholesterol…
Autoinflammatory Disorders Philip J. Hashkes Autoinflammatory syndromes, formerly known as periodic fever syndromes, are defined as recurrent attacks of often unprovoked systemic inflammation that are related to a…
Disorders of Sulfur-Containing Amino Acid Metabolism Bernd Christian Schwahn Sulfur-containing amino acids have various roles: They mediate the transfer of methyl groups for virtually all transmethylation reactions; they…
Hospice and Palliative Care Julie Hauer, Barbara L. Jones, and Joanne Wolfe Palliative care is a model of interdisciplinary care that seeks to improve the quality of life…
Gastroesophageal Reflux and Other Causes of Esophageal Inflammation Colin D. Rudolph GASTROESOPHAGEAL REFLUX Gastroesophageal reflux (GER) is the spontaneous passage of gastric contents into the esophagus. It is…
Leukoencephalopathies Mark P. Gorman Leukoencephalopathies comprise a clinical and radiographic heterogeneous group of disorders. All these disorders share the common features of neurologic dysfunction and preferential involvement of…
Tools for Diagnosis and Management of Respiratory Disease Beverley Newman and Geoffrey Kurland Viewing the pediatric chest and lungs, whether by radiographic or bronchoscopic means, is often central…
Sexually Transmitted Infections Loris Y. Hwang, Anna-Barbara Moscicki, and Mary-Ann Shafer Currently, substantial numbers of adolescents engage in sexual intercourse: 34% have experienced their sexual debut by ninth…
Cystic Diseases of the Kidney Friedhelm Hildebrandt Virtually all renal cystic illnesses are monogenic diseases (Table 470-1). A recent unifying theory of their pathophysiology suggests that all gene…
Buruli Ulcer (Mycobacterium ulcerans Infection) Wayne M. Meyers, Françoise Portaels, and Douglas S. Walsh Mycobacterium ulcerans causes indolent, necrotizing cutaneous lesions known as Buruli ulcers.1M ulcerans infections present…
