A clinical manifestations

Cordano A. Clinical manifestations of nutritional copper deficiency in infants and children. Am J Clin Nutr 1998 67 1012S-6S. 

In practice, clinicians and dieticians rarely aim to balance this whole spectrum of recommendations but rather they tend to relate a clinical manifestation to an imbalance of a particular metal and then, possibly to assess the intake from so-called food from the plate studies. It must be stressed that the biological roles of many of these elements are interdependent and in some instances will tend to raise the apparent concentration of a sister element (this is called stimulation), and in other cases will tend to suppress the intake and bio-availability of a related element (called antagonism). 

Simmons A. Clinical manifestations and treatment considerations of herpes simplex vims infection. J Infect Dis 2002 186(suppl l) S71-77. 

A13. Freund, H.A. Clinical manifestations and studies in 15A27. 

The following Biochemical Gonnections box discusses a clinical manifestation of an enzyme malfunction in the pentose phosphate pathway. 

Clinical manifestation of vitamin B 2 deficiency is usually a result of absence of the gastric absorptive (intrinsic) factor. Dietary deficiency of vitamin B 2 is uncommon and may take 20 to 30 years to develop, even in healthy adults who foUow a strict vegetarian regimen. An effective enterohepatic recycling of the vitamin plus small amounts from bacterial sources and other contaminants greatly minimizes the risk of a complete dietary deficiency. Individuals who have a defect in vitamin B 2 absorption, however, may develop a deficiency within three to seven years. 

Leishmaniasis affects some 12 million humans aimuaHy ia an area where 350 million are at risk. It is a complex of at least two protozoan diseases, consisting primarily of cutaneous and visceral forms. A mucocutaneous form is considered by some to be another distinct variety. Clinical manifestations of the disease range from an asymptomatic infection to an infection ia which there is considerable destmction of cutaneous tissue and mucous membranes. Leishmaniasis can often be fatal, especially ia the visceral form. The seriousness of the disease depends on the state of the immunological system of the... 

Beri-beri or clinically manifest thiamin deficiency exists in several subforms infantile beri-beri and adult beri-beri. Infantile beri-beri occurs in exclusively breastfed infants of thiamin-deficient mothers. Adults can develop different forms of the disease, depending on their constitution, environmental conditions, the relative contribution of other nutrients to the diet as well as the duration and severity of deficiency. First of all, there is a so called dry or atrophic (paralytic or nervous) form, including peripheral degenerative polyneuropathy, muscle weakness and paralysis. Second, a wet or exudative (cardiac) form exists. In this form, typical symptoms are lung and peripheral oedema as well as ascites. Finally, there is a cerebral form, that can occur as Wernicke encephalopathy or Korsakoff psychosis. Tli is latter form mostly affects chronic alcoholics with severe thiamin deficiency. 

Thiamin has a very low toxicity (oral LD5o of thiaminchloride hydrochloride in mice 3-15 g/kg body weight). The vitamin is used therapeutically to cure polyneuropathy, beri-beii (clinically manifest thiamin deficiency), and Wernicke-Korsakoff Syndrome ( Wernicke encephalopathy and Korsakoff psychosis). In mild polyneuropathy, 10-20 mg/d water-soluble or 5-10 mg/d lipid-soluble thiamin are given orally. In more severe cases, 20-50 mg/d water-soluble or 10-20 mg/d lipid-soluble thiamin are administered orally. Patients suffering from beri-beri or from early stages of Wernicke-Korsakoff Syndrome receive 50-100 mg of thiamin two times a day for several days subcutaneously or intravenously until symptoms are alleviated. Afterwards, the vitamin is administered orally for several weeks. 

Various clinical manifestations may be present in a patient in shock. For example, in the early stages of shock the extremities may be warm because compensatory mechanisms are initiated and the blood flow to the skin and extremities is maintained. If the condition is untreated, the skin and extremities become cool and clammy because of the failure of the compensatory mechanisms and the progression of shock. Thus, more advanced shock may be referred to as... 

Urinary tract infection (UTI) is an infection caused by pathogenic microorganisms of one or more structures of the urinary tract. The most common structure affected is the bladder, with the urethra, prostate, and kidney also affected (see Pig. 47-1). Display 47-1 identifies the disorder most frequently associated with each of these structures within the urinary system. Clinical manifestations of a UTI of the bladder (cystitis) include urgency, frequency, burning and pain on urination, and pain caused by spasm in the region of the bladder and the suprapubic area. 

The findings discussed above suggest that the presence of Met(O) residues in a-l-PI and lens proteins might account for some of the observed clinical manifestations. It is of interest to speculate that Met(0)-peptide reductase may function as a repair enzyme to prevent the accumulation of Met(O) residues in most proteins. Whether in those examples as discussed above, the accumulation of Met(O) in proteins is a result of an overwhelming increase in the synthesis of biological oxidants and/or a decrease in the ability to either destroy the biological oxidants or reduce the Met(O) residues in the proteins is not known. If it is the latter, this could be due to a decrease in the reductase itself or to some impairment in the reducing system that the enzyme requires. 

Glycogenosis type IV (branching enzyme deficiency) results in the formation of a variant of glycogen, characterized by abnormally long inner and outer glucosyl chains and fewer branch points than normal. The abnormal variant is stored in sufficient amounts to cause some vacuolation. The clinical manifestations of this... 

Histamine concentrations are maximal almost immediately, decrease thereafter with a half-life of about 20 min, and should be assayed within the first hour of a reaction. The sensitivity of this test for the diagnosis of anaphylaxis was estimated at 75%, the specificity at 51%, the positive predictive value at 75% and the negative predictive value at 51%. Tryptase reaches a peak in the patient s serum 30 min after the first clinical manifestations. Its half-life is 90 min, and the levels usually decrease over time. In a recent series, the sensitivity was estimated at 64%, specificity at 89.3%, positive predictive value at 92-95%, and negative predictive value at 54.3% [9]. 

Modified from Olkonnen VM, Ikonen E Genetic defects of intra-cellular-membrane transport. N Eng J Med 2000343 1095. Certain related conditions not listed here are also described in this publication. l-cell disease is described in Chapter 47. The majority of the disorders listed above affect lysosomal function readers should consult a textbook of medicine for information on the clinical manifestations of these conditions. 

Diabetes continues to be a major cause of excessive morbidity, severe disability and premature death in Western populations. In developed countries, the cost of diabetes to society may be estimated to be as high as 5% of the total health costs, much of which relates to the chronic vascular complications of this disorder (Williams, 1991). The vascular lesion in diabetes consists of (1) microangiopathy, distinguished by thickening of capillary basement membranes resulting in increased vascular permeability, which is clinically manifested as diabetic retinopathy (Fig. 12.1a) and/or nephropathy (Fig. 12.1b), and (2) macroangiopathy (Fig. 12.2),... 

The body s normal daily potassium requirement is 0.5 to 1 mEq/kg (0.5 to 1 mmol/kg) or 40 to 80 mEq (40 to 80 mmol) to maintain a serum potassium concentration of 3.5 to 5 mEq/L (3.5 to 5 mmol/L). Potassium is the most abundant cation in the ICF, balancing the sodium contained in the ECF and maintaining electroneutrality of bodily fluids. Because the majority of potassium is intracellular, serum potassium concentration is not a good measure of total body potassium however, clinical manifestations of potassium disorders correlate well with serum potassium. The acid-base balance of the body affects serum potassium concentrations. Hyperkalemia is routinely seen in... 

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