Disorder characterization

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  • In writing An Atlas of Parkinson’s Disease and Related Disorders, I have been conscious of the need to find an appropriate match between the text and the illustrative material. The text is designed to provide a basic overview of the conditions discussed, inevitably concentrating on those areas which lend themselves best to photographic illustration. Some movement disorders, by their very nature, do not lend themselves to still photography whereas others, characterized by sustained postures, are ideally suited to the technique.

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  • The field of movement disorders is relatively broad, encompassing disorders of increased movement, such as tremors, dystonia, and tics, to disorders characterized by a paucity of movement, such as Parkinson’s disease. Our understanding of the pathogenic mechanisms and our treatment options are expanding at a rapid pace. This expansion ranges from the medical and surgical advances in treating Parkinson’s disease to the flood of genetic abnormalities that have now been found to cause various movement disorders.

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  • Table 52-2 Description of Secondary Skin Lesions Lichenification: A distinctive thickening of the skin that is characterized by accentuated skin-fold markings. Scale: Excessive accumulation of stratum corneum. Crust: Dried exudate of body fluids that may be either yellow (i.e., serous crust) or red (i.e., hemorrhagic crust). Erosion: Loss of epidermis without an associated loss of dermis. Ulcer: Loss of epidermis and at least a portion of the underlying dermis. Excoriation: Linear, angular erosions that may be covered by crust and are caused by scratching.

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  • A–D. The distribution of some common dermatologic diseases and lesions Figure 52-7 Psoriasis. This papulosquamous skin disease is characterized by small and large erythematous papules and plaques with overlying adherent silvery scale.

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  • Applications of FISH The majority of FISH applications involve hybridization of one or two probes of interest as an adjunctive procedure to conventional chromosomal banding techniques. In this regard, FISH can be utilized to identify specific chromosomes, characterize de novo duplications or deletions, and clarify subtle chromosomal rearrangements. Its greatest utilization, however, is in the detection of microdeletions (see below). Though conventional cytogenetic studies can detect some microdeletions, initial detection and/or confirmation with FISH is essential.

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  • Presbycusis (age-associated hearing loss) is the most common cause of sensorineural hearing loss in adults. In the early stages, it is characterized by symmetric, gentle to sharply sloping high-frequency hearing loss. With progression, the hearing loss involves all frequencies. More importantly, the hearing impairment is associated with significant loss in clarity. There is a loss of discrimination for phonemes, recruitment (abnormal growth of loudness), and particular difficulty in understanding speech in noisy environments.

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  • Caring for the Patient with Deficits of Higher Cerebral Function Some of the deficits described in this chapter are so complex that they may bewilder not only the patient and family but also the physician. It is imperative to carry out a systematic clinical evaluation in order to characterize the nature of the deficits and explain them in lay terms to the patient and family. Such an explanation can allay at least some of the anxieties, address the mistaken impression that the deficit (e.g.

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  • Harrison's Internal Medicine Chapter 76. Eating Disorders Eating Disorders: Introduction Anorexia nervosa and bulimia nervosa are characterized by severe disturbances of eating behavior. The salient feature of anorexia nervosa (AN) is a refusal to maintain a minimally normal body weight. Bulimia nervosa (BN) is characterized by recurrent episodes of binge eating followed by abnormal compensatory behaviors, such as self-induced vomiting. AN and BN are distinct clinical syndromes but share certain features in common.

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  • Recurrent episodes of binge eating, which is characterized by the consumption of a large amount of food in a short period of time and a feeling that the eating is out of control. Recurrent inappropriate behavior to compensate for the binge eating, such as self-induced vomiting. The occurrence of both the binge eating and the inappropriate compensatory behavior at least twice weekly, on average, for 3 months. Overconcern with body shape and weight.

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  • Gestational Hypertension This is the development of elevated blood pressure during pregnancy or in the first 24 h post partum in the absence of preexisting chronic hypertension and other signs of preeclampsia. Uncomplicated gestational hypertension that does not progress to preeclampsia has not been associated with adverse pregnancy outcome or adverse long-term prognosis. Renal Disease (See also Chaps. 272 and 280) Normal pregnancy is characterized by an increase in glomerular filtration rate and creatinine clearance.

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  • Insomnia Associated with Neurologic Disorders A variety of neurologic diseases result in sleep disruption through both indirect, nonspecific mechanisms (e.g., pain in cervical spondylosis or low back pain) or by impairment of central neural structures involved in the generation and control of sleep itself. For example, dementia from any cause has long been associated with disturbances in the timing of the sleep-wake cycle, often characterized by nocturnal wandering and an exacerbation of symptomatology at night (so-called sundowning).

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  • Microdeletion Syndromes The term contiguous gene syndrome refers to genetic disorders that mimic a combination of single-gene disorders. They result from the deletion of a small number of tightly clustered genes. Because some are too small to be detected cytogenetically, they are termed microdeletions. The application of molecular techniques has led to the identification of at least 18 of these microdeletion syndromes (Table 63-4). Some of the more common ones include the Wilms' tumor–aniridia complex (WAGR), Miller Dieker syndrome (MDS), and velocardiofacial (VCF) syndrome.

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  • Thrombotic Thrombocytopenic Purpura TTP and HUS were previously considered overlap syndromes. However, in the past few years the pathophysiology of inherited and idiopathic TTP has become better understood and clearly differs from HUS. TTP was first described in 1924 by Eli Moschcowitz and characterized by a pentad of findings that include microangiopathic hemolytic anemia, thrombocytopenia, renal failure, neurologic findings, and fever. The full-blown syndrome is less commonly seen now, probably due to earlier diagnosis.

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  • Hemolytic Uremic Syndrome HUS is a syndrome characterized by acute renal failure, microangiopathic hemolytic anemia, and thrombocytopenia. It is seen predominantly in children and in most cases is preceded by an episode of diarrhea, often hemorrhagic in nature. Escherichia coli O157:H7 is the most frequent, although not only, etiologic serotype. HUS not associated with diarrhea (termed DHUS) is more heterogeneous in presentation and course.

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  • Disseminated Intravascular Coagulation DIC is a clinicopathologic syndrome characterized by widespread intravascular fibrin formation in response to excessive blood protease activity that overcomes the natural anticoagulant mechanisms. DIC is associated with several underlying pathologies (Table 110-2). The most common causes are bacterial sepsis, malignant disorders such as solid tumors or acute promyelocytic leukemia (APL), and obstetric causes. DIC is diagnosed in almost half of pregnant women with abruptio placentae or with amniotic fluid embolism.

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  • Diseases of the neuromuscular junction (NMJ) include a large spectrum of acquired and inherited disorders mainly characterized by fluctuating muscle weakness and fatigability of ocular, bulbar or limb muscles. Remarkable progress has been made in our understanding of the pathogenesis of these disorders in recent years.

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  • Researchers have theorized that anti-inflammatory medications may help prevent diseases, such as coronary artery diseases (CAD), cardio vascular diseases (CVD), stroke, colon cancer and Alzheimer’s. Several recent findings from different laboratories in the world employing case-control human studies and/or specific animal models for chronic human diseases support these ideas.

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  • Decreased aldosterone synthesis may be due to primary adrenal insufficiency (Addison's disease) or congenital adrenal enzyme deficiency (Chap. 336). Heparin (including low-molecular-weight heparin) inhibits production of aldosterone by the cells of the zona glomerulosa and can lead to severe hyperkalemia in a subset of patients with underlying renal disease, diabetes mellitus, or those receiving K+-sparing diuretics, ACE inhibitors, or NSAIDs.

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  • Tetanus is a neurologic disorder, characterized by increased muscle tone and spasms, that is caused by tetanospasmin, a powerful protein toxin elaborated by Clostridium tetani. Tetanus occurs in several clinical forms, including generalized, neonatal, and localized disease. †A contributor to HPIM since the 12th edition, Dr. Abrutyn passed away on February 22, 2007. Etiologic Agent C. tetani is an anaerobic, motile, gram-positive rod that forms an oval, colorless, terminal spore and thus assumes a shape resembling a tennis racket or drumstick.

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  • The pioneering cardiac surgeon Alain Carpentier, MD, PhD, developed a functional classification to reflect the underlying pathological changes that contributed to MR (Carpentier A. 1983) (Figure 4). As described in this classification, type I MR is characterized as normal leaflet motion but with annular dilatation or leaflet perforation; type II lesions are related to leaflet prolapse and may be caused by myxomatous disease, such as chord rupture or elongation, or by papillary muscle rupture or elongation; and type III lesions are caused by restricted leaflet motion.

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