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Noninfectious diseases, metabolic diseases, toxicities, and neoplastic diseases of South American camelids.

Although the SAC generally are healthy and tolerant of a wide variety of management schemes, a number of noninfectious diseases have been documented to occur, affecting all body systems. Gastrointestinal diseases appear to be the most common afflictions, particularly dental diseases, indigestion, ulceration of the third compartment, and the various causes of colic, such as enteritis, peritonitis, and intestinal accidents. Diseases of the urinary system (urolithiasis, amyloidosis, and glomerulonephritis in particular), the nervous system (especially various compressive lesions of the spinal cord), and the respiratory system (such as obstructive pulmonary diseases) are not uncommon. Diseases of the cardiovascular system (other than congenital defects), hemolymphatic system, and nonsurgical diseases of the musculoskeletal system only rarely are encountered. Heat stress appears to be a very common problem in certain areas, but other metabolic diseases (ketosis, hypocalcemia, and hypothyroidism) are of minor importance. It is assumed that SAC are susceptible to most of the same toxicities that affect domestic livestock species. The best documented examples appear to be the Ericaceae family of plants (laurels, rhododendrons, and so on) and the organophosphate chlorpyrifos. Neoplasia occasionally is seen; examples include lymphosarcoma, gastric squamous cell carcinoma, and adenocarcinoma. As the longevity of these species increases because of their pet status, neoplasia can be expected to become more common. The treatment of most of these conditions is based upon extrapolation from domestic ruminants.

Animals↗

[Molecular biology diagnostics of hereditary metabolic diseases].

Metabolic diseases are often a result of monogenic inheritance and are suitable subjects for molecular diagnosis. Much progress has been made on research into this group of diseases, and further advances are expected after the completion of the Human Genome Project (HUGO) and as a consequence of improved molecular genetic methods. Although it is possible to diagnose many metabolic disorders by biochemical analyses of enzyme function, the underlying molecular genetic defects must be identified in order to be able to make accurate diagnoses of patients and their relatives. A molecular diagnosis is also a pre-condition for gene therapy. It is of paramount importance that more knowledge is gained of the correlation between genotype and phenotype for the genetic counselling of patients and their families. Important challenges at the present time are how to achieve a better understanding of the molecular and metabolic basis for the way in which diseases manifest themselves clinically and the factors which modify the phenotype.

DNA Mutational Analysis↗

[Pulsatility, flow and metabolic diseases].

Metabolic diseases, and particularly diabetes mellitus have a well-established vascular determinism. Diabetic arteriopathy is associated from its onset with elevated tissue blood flow at rest and blood and plasma hyperviscosity. These anomalies are corrected by the perfect equilibration of the glycemia with the artificial pancreas. In 8 to 28% of cases, according to the author, there is an original hemodynamic picture; the enhanced flow hyperpulsatile diabetic arteriopathy observed in a caricatural manner in ulcerated mutilating acropathies. The vasomotor inertia of the diabetic artery and the metabolic neuropathy suggest that surgery to increase blood flow might be of interest in diabetic patients, as a function of results of previous function tests.

Diabetes Mellitus, Type 1↗

[Status of lysosomal diseases amongst metabolic diseases].

Lysosomal diseases belong to the group of diseases which disturb the synthesis, catabolism or processing of complex molecules. These are the most common metabolic diseases, as they account for about one-third of all known metabolic diseases. They can be expressed as early as the intra-uterine stage of life, or appear after birth at any age, including during adulthood. They develop gradually, evolve independently of any intercurrent catabolic event and are independent of diet. Although they have long been associated with an inevitably fatal outcome, several can now be treated effectively, either by enzyme replacement therapy which increases catabolism of the overloaded substance thanks to an input of the deficient enzyme, or by drugs which reduce the synthesis of the overloaded substance.

Adult↗

[Abdominal pain in metabolic diseases].

Metabolic disorders which may mimicry a surgical abdomen are ketoacidosis, acute intermittent porphyria, hyperparathyroid crises, Addisons crises, hyperchylomicronemia, hemolytic crises, abdominal crises in hemochromatosis. Abdominal pain of non-surgical and non-inflammatory origin may be also found in abdominal allergic crises, intestinal wall bleeding due to anticoagulants, thrombocytopenia or acute poisoning. The symptoms may be very similar to those in surgical peritonitis. A careful work-up leads to the right diagnosis.

Abdomen, Acute↗

[Eating behavior of patients with metabolic diseases and metabolically healthy probands in Austria. Results of a questionnaire survey at the Graz Autumn Fair 1991].

Malnutrition as the cause of developing atherosclerosis is undoubtedly of major importance. For that reason, proper nutrition and eating habits among the population is of specific significance in preventive medicine. In order to establish a more pronounced food consciousness among the population of Styria, a questionnaire was issued to 1.354 persons attending the Graz Autumn Fair in 1991. The results showed above all that approximately 40% of the subjects investigated presented a disease due to malnutrition and metabolic disorder, mainly hyperlipidemia. The choice of various foods varied according to male and female tastes; roasted pork was more often a men's favourite dish (p < 0.001) while women had a prediction for vegetarian food (p < 0.001). There was, however, no difference in the choice of eating habits in persons with or without metabolic disorders. Thus, women in general do pursue a healthier consciousness was not so pronounced in man. Yet, it could not be established by means of the questionnaire that subjects with metabolic disorders showed different eating habits with respect to their disease.

Adult↗

Emergency management of inherited metabolic diseases.

Inherited metabolic diseases with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with reduced fasting tolerance, (3) disorders with disturbed energy metabolism, (4) disorders of neurotransmission and (5) disorders in which no specific emergency treatment is available. Diagnostic emergency laboratory evaluation should cover all differential diagnoses that are therapeutically relevant and should always include ammonia, glucose, lactate and acid-base status as well as testing the urine for ketones. These are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min. According to the clinical situation and biochemical derangement, special metabolic investigations must be initiated in parallel. These include acylcarnitine profiling with tandem mass spectrometry (in plasma or dried blood spots) and analysis of amino acids in plasma and of organic acids in urine. The results of all laboratory investigations relevant to the diagnosis of metabolic disorders for which specific emergency therapy exists should be available within 24 h. There is general agreement with regard to some therapeutic strategies that are clearly explained by pathophysiology: in disorders with endogenous intoxication, anabolism must be promoted and specific detoxification measures initiated. In disorders with reduced fasting tolerance, administration of glucose at the rate of hepatic glucose production forms the basis of treatment. Correction of acidosis is a major goal in disorders with disturbed mitochondrial energy metabolism, while glucose supply may have to be limited. Many current therapeutic strategies are based on case reports and personal experiences at different metabolic centres. The aim of devising the 'best' management is often hampered by the lack of objective evidence of efficacy.

Emergency Medical Services↗

[Genetic basis of endocrine-metabolic diseases].

Endocrine-metabolic diseases are very important because of either the variety of affected organs and the great social impact of at least some conditions, due to their high incidence and morbidity in the general population. A multifactorial origin has been recognized in many endocrine-metabolic diseases; in fact genetic and environmental risk factors contribute to the expression of pathologic phenotype. Recent progresses in molecular genetics allowed development of specific genetic tests which improved diagnosis of monogenic diseases and ascertainment of genetic susceptibility for some multifactorial pathologies. Therefore, management of the most important endocrine-metabolic diseases should take into account the interaction between improvement of the diagnosis and primary prevention actions through modification of environmental and lifestyle-related risk factors.

Diabetes Mellitus↗

Cutaneous manifestations of metabolic diseases: uncommon presentations.

Metabolic diseases are common diseases in the Western world. Many of these diseases, including diabetes mellitus, hyperlipoproteinemia, gout, calcinosis, and hemochromatosis, are associated with skin diseases or often present with specific cutaneous signs. A knowledge of cutaneous manifestations helps to identify patients at risk, establish the internal diagnosis, and monitor the adverse effects of therapy.

Calcinosis↗

[Incidence of coronary disease and other metabolic diseases in 80 gout patients].

A study about gout associated with hypertension, diabetes, ischemic cardiopathy and different alterations in the sanguineous levels of lipids was conducted on 80 patients of the Rheumatology Service at the National Institute of Cardiology in Mexico City. We found abnormal levels of tryglicerids in the blood of 55% of the patients and a high level of cholesterol in only 5%. In 27% of the patients, some alteration showed in the carbo-hydrates methabolism, and in 22,5% of them we found systemic arterial hipertension. Slight ischemic cardiopathy was showing in a 37% of the patients, but uric acid level in blood seemed to be of little importance for the frequency, type or severity of the coronary heart disease. We made a comparison between the results we obtained through these studies and those found among the Mexican population and with information found in international medical publications.

Adolescent↗