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Classic renal tubular acidosis is characterized by a primary defect in establishment of a large hydrogen ion gradient across the distal renal tubule. Thus the development of hyperchlorenic metabolic acidosis follows. In addition, hypokalemia results from renal potassium wasting secondary hyperaldosteronism from sodium wasting and contraction of the extracellular fluid. The presenting signs and symptoms are growth retardation, fatigue, periodic paralysis, polyuria, polydipsia, vomiting and constipation as well as nephrocalcinosis and nephrolithiasis. It is suggested that effective treatment with alkali therapy requires markedly higher doses than formerly recommended, and may related to a higher rate of endogenous acid production from (1) intermediary metabolism of sulfur amino acids and organic acids, (2) impaired tubular reabsorption of bicarbonate and (3) hydrogen ion release from hydroxyapatite formation. It is also suggested that acidosis may interfere with vitamin D metabolism and thus play an important role in the pathoetiology of the growth failure in children with this disorder.
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PMID:Acid-base, calcium, potassium and aldosterone metabolism in renal tubular acidosis. 3 60

Five cases of a chronic neuromuscular syndrome consisted of muscular aching and sometimes burning pain, fasciculations, cramps, fatigue, and occasional paresthesia. The disorder affected the legs and, less commonly, the girdle, trunk, and arm muscles. The symptoms were enhanced by physical activity and were usually improved by rest. Neither muscular wasting nor weakness was found, although the condition was present for an average of 4.7 years and, in one patient, as long as 10 years. Electrophysiologic studies showed motor abnormalities indicative of axonal degeneration and muscle fiber denervation, most marked in the legs. Light microscopy of skeletal muscle and spinal cord in one case disclosed evidence of mild denervation atrophy in muscle, but no loss of anterior horn cells. The findings are compatible with a benign polyneuropathy.
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PMID:The muscular pain-fasciculation syndrome. 56 28

Polymyalgia rheumatica should be considered when a syndrome of constitutional symptoms, especially weight loss, low-grade fever, weakness, wasting proximal muscles, fatigue, malaise and depression, is seen in the elderly. Giant-cell arteritis plays a part later in the course. Thus the need for biopsy of a long segment of the temporal artery to help in determining diagnosis and therapy. An elevated erythrocyte sedimentation rate (ESR) is an important clue. The usual high value is about 80 mm/hour; if it is over 100 mm/hour, giant-cell arteritis should be suspected. Salicylates, indomethacin, phenylbutazone and hydroxychloroquine produce some clinical improvement but do not lower the high ESR; moreover, the patients are prone to experience relapses. Prednisone, however, not only produces clinical improvement but lowers the high ESR. Potassium p-aminobenzoate may be useful in maintaining the remission.
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PMID:Polymyalgia rheumatica. 124 88

Ten unselected African patients infected with human immunodeficiency virus (HIV) and with slim disease were evaluated using physical examination, anthropometric measurements, Karnovsky performance score, and muscle biopsy. All had marked weight loss (36.8 +/- 10.8%) with extreme fatigue, marked diffuse wasting with significantly decreased circumferences of arms, thighs and calves (P < or = 0.002), and a low Karnovsky performance score (range 30-70). Mild to moderate motor deficit (in 9/10 patients) contrasted with the major amyotrophy. Chronic diarrhoea (in 7/10) and/or prolonged fever (in 7/10) were always associated with the amyotrophy. Atrophy of muscle fibers was the main finding of muscle biopsy. Only 5 patients met the CDC criteria for the 'HIV wasting syndrome'. We conclude that slim disease, which is highly suggestive of the acquired immune deficiency syndrome (AIDS) in Africa, is a condition associated with chronic diarrhoea and/or prolonged fever, that encompasses the 'HIV wasting syndrome' sensu stricto and probably other debilitating diseases associated with AIDS, such as tuberculosis.
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PMID:The slim disease in African patients with AIDS. 141 62

Exercise performance data, circulatory function and respiratory and leg muscle quality, expressed as muscle fiber composition, are reviewed and together with our own data discussed as possible limiting factors for physical performance in chronic obstructive pulmonary disease (COPD). COPD is regarded as synonymous with reduced physical performance, exaggerated breathlessness or dyspnea, muscle hypotrophy and/or wasting and, frequently, malnutrition. Impaired right ventricular circulatory function seems to be essential. The observed preponderance of fast twitch (FT), 'glycogenolytic' and capillary-poor muscle fiber type in the investigated muscles might reflect endowment, a 'hypoxic vasoconstriction'-related downregulation of the other main fiber type: the slow twitch (ST), capillary-rich, fatigue-resistant fiber, and/or selective muscle trauma to ST fibers. Ischemic heart disease (IHD) patients demonstrate a similar fiber type pattern in leg muscles. Both COPD and IHD patients have low leg muscle and plasma deposits of antioxidants such as coenzyme Q10 (CoQ10) and alpha-tocopherol. This could reflect a depressed resistance to radical induced cell trauma and/or malnutrition. The magnitude of the antioxidant reduction is less pronounced in patients rich in FT fibers indicating a ST fiber-related susceptibility to trauma. Treatment of other muscle disorders including heart muscle with, e.g., CoQ10 improves performance due to a causative enhanced antioxidant potential, reduced catabolism and/or an upregulated muscle anabolism, increased mitochondrial volume/function, etc. Such data are lacking in COPD.
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PMID:Exercise-limiting factors in respiratory distress. 151 68

Relationships between nutrition and infection are generally complex, bidirectional, and not perfectly worked out. Healthy people can adapt to simple decreases in intake or increases in expenditure. However, the imposition of infection with associated cytokines may impair such adaptations, resulting in wasting of lean tissue. In human immunodeficiency virus (HIV) infection, nutritional abnormalities are common. Lean body mass depletion is associated temporally with death in a subset of acquired immune deficiency syndrome (AIDS) patients. Weakness, fatigue, and anorexia are important symptomatic complaints affecting quality of life. Pathophysiologic mechanisms remain speculative, although there is reason to suspect four theoretic factors: decreased intake, malabsorption, hypermetabolism, and altered metabolism. More than one disturbance may be necessary for clinical wasting to develop; ie, a primary abnormality plus a failure of homeostatic adaptation. Excess cytokine production also may be involved, but this is uncertain. Therapeutics remain empiric in the absence of known mechanisms. Current options are restricted to diet adjustments or supplements, treatment of underlying diseases (where possible), and rarely, parenteral alimentation. Promising investigational possibilities include an appetite stimulant (megestrol acetate) and therapies to oppose cytokine production or actions, but definitive beneficial effects on nutritional status, subjective performance, disease activity, or survival have not yet been demonstrated. Advances in clinical therapeutics await an improved understanding of pathophysiologic mechanisms and carefully designed clinical trials testing proposed interventions.
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PMID:Current approach to the treatment of human immunodeficiency virus-associated weight loss: pathophysiologic considerations and emerging management strategies. 225 24

A 72-year-old woman of definite type of malignant rheumatoid arthritis (MRA) with severe peripheral neuropathy. She has often noted pain of both shoulders or knee joints since some years ago. At the age of 71, she noticed numbness of the feet with pain and swelling of knee joints. She was diagnosed as definite type of rheumatoid arthritis by one podiatrist. Although she took some medications, she subsequently developed general fatigue, appetite loss, exacerbation of arthritis, drop feet and hands with prominent coldness. She was admitted to our hospital on March 22, 1985. On examination, she revealed purpura, decubitis, heart murmur, arthritis of knee joints, and fingers necrosis with skin ulcer. She had severe muscle weakness, and wasting of four limbs. Moderate impairment of all-modality sensations were noted in all extremities. Distal involvement was greater than proximal. Laboratory data during administration of prednisolone (60 mg/day) were as follows: glucose in urine, 2+; occult blood in urine, 1+; white blood cells count, 18600 with 92% polymorphonuclear leukocytes; erythrocyte sedimentation rate, 60 mm in an hour; CRP, 14.62 mg/dl (normal 0.5 greater than); RA test, 2+; RAHA, 10240; CH50, 10 U/ml (normal 32-42); C3, 37 mg/dl (normal 55-75); C4, 9 mg/dl (normal 15-28); immune complex, 4.4 micrograms/ml (normal 3.0): Chest X-ray film showed cardiomegaly (CTR, 57%). ECG disclosed atrial premature contraction, and echo cardiography suggested epicarditis with aortic valve insufficiency. 99mTc RI angiogram revealed impairment of peripheral circulation. SCV on sural nerve was not elicited. Sural nerve biopsy showed obliterans type of endoarteritis and axonal degeneration with loss of myelinated fiber.
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PMID:[A case of malignant rheumatoid arthritis with severe peripheral neuropathy]. 258 90

Wasting of muscle and a negative nitrogen balance are obvious effects of malnutrition, and have led to the use of anthropometric measurements and nitrogen balance for its assessment. A positive nitrogen balance and an increase in limb muscle circumference are believed to be solid indices of the beneficial effects of nutritional support. In experiments with growing rats and in young children, nitrogen retention and growth are recognized to be the desirable effects of optimal nutritional intake. This concept has been applied to malnourished adult humans (nongrowing) who have been considered potentially able to "regrow" the lost tissue. Although it is true that patients receiving long-term (greater than 6 months) home total parenteral nutrition (TPN), gain body weight and nitrogen over many months and years of observation, these processes are not seen during shorter (less than 40 days) periods of nutritional intervention given in hospital. Despite adequate intakes of nitrogen and calories, little or no significant increase in total body nitrogen is seen in a variety of patients receiving TPN in hospital over several weeks, but nutritional support does appear to improve outcome in the form of reduced complications after a period of support so short that body composition is barely altered. For example, Young and Hill showed that although amino acids and amino acids plus calories both resulted in equivalent sparing of body nitrogen, the latter was associated with quicker wound healing and fewer complications. Thus, the outcome and body composition data suggest that reversal of the adverse effects of malnutrition is not based on improvement of the traditional parameters of nutrition, such as gain in body nitrogen, or a demonstrable increase in muscle mass, or in plasma proteins. On the basis of the foregoing evidence, there are grounds for suspecting that functional abnormalities in adult humans may not be the result of simple loss of lean tissue and therefore may recover before such lean tissue is regained. This hypothesis is supported by the observation of Klidjian et al who showed that muscle force is a good measure of outcome. One of the major organ systems of the human body is the musculoskeletal system, and therefore it would seem important to determine the effect of malnutrition on that system. Previous studies of muscle function have been largely related to the examination of fatigue, myopathy, and endocrine-metabolic abnormalities. Subsequently we undertook initial studies of muscle function in very malnourished patients as outlined below.
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PMID:Rhoads lecture--1988. Bulk or bounce--the object of nutritional support. 306 74

This article provides a clinically-oriented overview of palliative care for patients with AIDS. Indicators of decreased survival time are divided into categories of infections/illnesses, clinical signs and symptoms, immunological and serological markers, and psychosocial factors. Primary symptoms in AIDS are discussed according to etiology and treatment. However, treatments of opportunistic infections per se are not directly addressed in this article. Problems discussed include pain, confusion, depression and anxiety, fatigue, fever, dyspnea, nausea and vomiting, diarrhea, wasting, and dehydration. The article also briefly addresses clinical and ethical questions and challenges presented by AIDS to hospice or palliative care providers, and the various stages of HIV infection.
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PMID:Palliative care for patients with acquired immunodeficiency syndrome. 749 35

We report the case of 71-year-old male who was once diagnosed as having diabetic amyotrophy, because of pronounced wasting in proximal muscles, massive weight loss, and development of paresthesia in his legs. Afterwards, ragged red fibers and mitochondrial tRNA mutation at position 3243 were documented in muscle biopsy. He had diabetes mellitus associated with 3243 mitochondrial DNA mutation, suggesting that clinically, diabetic amyotrophy may be overlapped with mitochondria-related disease entities in some parts. Coenzyme Q10 administration was effective in relieving the symptoms in his legs, fatigue, and residual urine in his bladder. These were confirmed with the improvement in neurological parameters. In conclusion, this case gives important help in understanding myopathy in diabetes. It would be important to check on the 3243 mitochondrial tRNA mutation in patients with diabetic amyotrophy and/or diabetic neuropathic symptoms.
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PMID:A case of diabetic amyotrophy associated with 3243 mitochondrial tRNA(leu; UUR) mutation and successful therapy with coenzyme Q10. 754 75


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