Failure of Ouabain to Influence the Osmotic Fragility in Hereditary Spherocytosis

No effect of 3 μmol ouabain on the osmotic fragility of red blood cells in subjects suspected of being carriers of hereditary spherocytosis, as well as in patients with overt disease could be demonstrated. These results are in disagreement with a recent report. Some possible explanations for these discrepant results are discussed. It is concluded that ouabain probably adds little to the diagnostic capability of the osmotic fragility test.     

Does Preincubation of the Red Blood Cells Contribute to the Capability of the Osmotic Fragility Test to Detect very Mild Forms of Hereditary Spherocytosis?

During incubation for 24 h at 37°C, erythrocytes from patients with hereditary spherocytosis (HS) undergo a greater increase in osmotic fragility than do normal cells, and this procedure has been recommended for differentiating more clearly between patients with very mild HS and normal subjects. The greater effect of preincubation on erythrocytes from patients with HS was confirmed, but, except in cases demonstrating a markedly increased osmotic fragility before incubation, this effect was outweighed by a simultaneous loss of test precision. It therefore seems that preincubation does not significantly contribute to the capability of the osmotic fragility test to detect very mild forms of HS.     

Sorbitol Intolerance in Adults

Sorbitol is a commonly used sugar substitute in "sugar-free" food products. Although sorbitol intolerance manifested by abdominal pain, bloating, and diarrhea has been observed in children, it has not been well documented in adults. Forty-two healthy adults (23 whites, 19 nonwhites) participated in this study. After ingestion of 10 g of sorbitol solution, end expiratory breath samples were collected at 15-min intervals for 4 h and analyzed for H2 concentration. Clinical sorbitol intolerance was detected in 43% of the whites and 55% of the nonwhites, the difference not being statistically significant. However, severe clinical sorbitol intolerance was significantly more prevalent in nonwhites (32%) as compared to whites (4%). There was a good correlation between the severity of symptoms and the amount of hydrogen exhaled. Dietetic foods, many of them containing sorbitol, are very popular with diabetics and "weight watchers." Based on our observations, we believe that a large number of adults could be suffering from sorbitol-induced nonspecific abdominal symptoms and diarrhea. These symptoms could lead to an extensive diagnostic work-up and lifelong diagnosis of irritable bowel syndrome.     

Sorbitol dehydrogenase in the diagnosis of liver disease

Summary and conclusions In an attempt to find a more useful clinical test for the diagnosis of liver disease, serum levels of the enzyme sorbitol dehydrogenase (SDH) were measured in patients with liver disease and patients with nonhepatic diseases. The majority of patients in both groups had concomitantly elevated serum levels of SGOT and SGPT. In the patients tested, SDH elevations were found to be specific for liver involvement, but much less sensitive than the transaminases. The serum sorbitol dehydrogenase test, in its present form, does not appear to offer any special advantages over the transaminase studies presently employed to detect hepatocellular disease. Certain conclusions can be drawn from the data: (1) SDH was found to be organ-specific but not disease-specific in the patients tested; (2) it was seen to be less sensitive than the transaminases; and (3) SDH levels remained elevated for much shorter periods of time than the transaminases.     

Lineation of the Osmotic Fragility Curve of Erythrocytes

Lineation of the osmotic fragility curve by the method of Detraglia et al (1974) may be performed in most samples from a hospital population. Using the lineation procedure, the osmotic fragility may be tested by only 2 solutions of known osmolarity without any great loss of precision or accuracy. The osmotic fragility curve may be described by 2 values: C₅₀ = the concentration at which 50% of the erythrocytes are haemolyzed and C₅₀ - C₈₀ = the decrease in concentration raising the fraction of haemolysis from 0.50 to 0.80.     

Sorbitol in the accessory glands of the diabetic male rat

Summary Diabetes was induced in rats by i.v. injection of streptozotocin (60 mg/kg body weight). Diabetes was accompanied by infertility and atrophy of the male accessory glands. Blood glucose rose above 500 mg% (post-prandial) and blood testosterone decreased to 14% of the level found in normoglycemic rats. Diabetes was followed by increased levels of sorbitol in the male accessory glands, prostate, seminal vesicle and coagulating gland, and in the eyes and sciatic nerves. Insulin treatment of the diabetic rats prevented sorbitol accumulation in the above tissues. A Y-22, 284, an inhibitor of aldose reductase given in the food (1 g/kg body weight/day) for 3 weeks, did not prevent sorbitol accumulation in the organs mentioned. The changes in sorbitol metabolism in the diabetic rat and their possible involvement in male fertility are discussed.     

Sorbitol as a Sweetener in the Diet of Insulin-dependent Diabetes

ABSTRACT. We compared sorbitol given alone and as part of a mixed meal to nine insulin-dependent diabetics (IDD's) during continuous subcutaneous insulin infusion (CSII). Blood glucose, sorbitol and breath hydrogen+methane were measured following six test meals: Pure glucose, sorbitol and lactulose, a mixed meal alone, and sweetened with sorbitol and sucrose. Blood glucose increase was very small after lactulose and sorbitol, significantly larger after glucose. A considerable increase in breath hydrogen+methane appeared after sorbitol and lactulose, but not after glucose. No differences in blood glucose responses were found after the mixed meal alone or sweetened with sorbitol and sucrose. A sustained low level increase in breath hydrogen+methane occurred after all solid meals. Sorbitol was not detected in serum after any meal. Conclusion: Sorbitol ingested by IDD's during CSII in watery solution is not absorbed in the small intestine and causes osmotic diarrhoea. Ingested in a composite meal it does not affect blood glucose and does not cause osmotic diarrhoea.     

Osmotic Erythrocyte Fragility and ABO Blood Groups

In a study of 1008 blood donors a reduced frequency of blood group A and an increased frequency of blood group O were observed in those with increased osmotic fragility of their red cells.     

Fragility fractures and the osteoporosis care gap: an international phenomenon

OBJECTIVES: To describe practice patterns in the management of osteoporosis after fragility fracture. METHODS: Systematic review of articles in MEDLINE, EMBASE, Cochrane, and CINAHL databases (1996 to February 2005). Diagnostic outcomes included clinical osteoporosis diagnoses, laboratory tests, and bone density scans. Treatment outcomes included initiation of calcium, vitamin D, hormone replacement therapy, bisphosphonates, calcitonin, raloxifene and falls assessments. RESULTS: Thirty-five studies met our inclusion criteria and demonstrated that adults who experience fragility fracture are not receiving osteoporosis management. An osteoporosis diagnosis was reported in 1 to 45% of patients with fractures; laboratory tests were ordered for 1 to 49% and 1 to 32% of patients had bone density scans. Calcium/vitamin D and pharmacological therapy was reported in 2 to 62% and 1 to 65% of patients, respectively. Osteoporosis treatment was recommended more often in women than men, and more often in patients with vertebral fractures than in patients with nonvertebral fractures. Older patients were more likely to be diagnosed with osteoporosis, but treatment was more likely in younger patients. A history of prior fracture was reported in 7 to 67% of patients. Between 1 and 22% of patients had a subsequent fracture during follow-up periods of 6 months to 5 years. Falls assessments were not often reported; when they were, they were infrequently performed. A greater proportion of patients were diagnosed/treated during follow-up studies than in studies evaluating diagnosis/treatment on discharge from acute care. CONCLUSIONS: The majority of individuals who sustain fragility fractures are not receiving adequate osteoporosis management. Future research should address barriers to appropriate management and the efficacy of implementation strategies designed to close the osteoporosis care gap. RELEVANCE: This article is of particular importance to health care professionals who provide care for patients with fragility fracture.     

Hereditary spherocytosis and hemochromatosis

A 37-year-old male, splenectomized at the age of 1 year, was admitted to the ward with severe chest pain and signs of cardiogenic shock. Clinical investigations revealed the presence of both hemochromatosis and hereditary spherocytosis (HS). HLA typing showed A3,B7 and A24,B57 haplotypes and genetic analysis revealed homozygosity for the C282Y mutation. A family study was performed. The parents and four brothers were heterozygous for the C282Y mutation. Two of the brothers also presented high levels of iron stores and they had been splenectomized because of HS, while two other siblings had neither spherocytosis nor hemochromatosis. The mother had a mild anemia with dehydrated red blood cells (RBC), while the father appeared to have low-density, but normal RBC; none of them presented with spherocytosis. All siblings with spherocytosis and elevated iron stores showed a RBC density distribution similar to the mother. We present the first case with genetically proven hemochromatosis in combination with spherocytosis, focusing on the various possibilities of iron accumulation in individuals with spherocytosis and heterozygosity for the C282Y mutation.     

Hereditary and acquired thrombophilia

During the past decade knowledge about the etiology of venous thromboembolism has increased tremendously. Inherited and acquired risk factors for venous thromboembolism are common in patients as well as in the general population. Whether the presence of most of these risk factors has consequences for the management of symptomatic and asymptomatic individuals is not fully clear at present. Therefore, while searching for new thrombophilic defects, it is crucial to determine the absolute risk for (recurrent) venous thromboembolism as well as other clinical manifestations in carriers. However, tentative guidelines for managing patients and their families are given in this review.     

HLA and Hereditary Spherocytosis

Abstract. The HLA types of two families with hereditary spherocytosis (HS) suggest that the HS gene(s) may be linked with the HLA locus. If substantiated by further family studies, this linkage would place HS on chromosome 6.; Accepted: February 14, 1977