Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and diagnostic features of renal papillary necrosis (RPN) of 27 patients were studied. Diabetes mellitus was the most frequent (56%) condition associated with RPN. Analgesic abuse, sickle hemoglobinopathy and urinary tract obstruction were present in 4 patients each; in 6 of these 12 patients these conditions were present as a coexistent disease with diabetes mellitus. There was evidence of an acute or chronic infection of the urinary tract in 18 patients, as a coexistent condition with another underlying disease that itself can cause RPN in 14 patients and as the only cause of RPN in another 4. Thus, the presence of more than one diagnostic condition which might be implicated in the causation of RPN was present in 15 patients or 55% of the cases in this series. When infection was excluded, six patients or 22% of the cases had two coexisting diseases, each of which has been implicated as a cause of RPN. This observation underlines the multifactorial nature of this entity and might explain why RPN is not encountered more frequently in each of the various primary diseases with which it has been associated. The average age of the patients at the time of diagnosis was 53 years for women and 56 years for men. Only six of the patients were younger than 40 years, and three of these had sickle hemoglobinopathy. The diagnosis of RPN was based on x-ray findings in eight patients, on the histologic examination of papillary tissue in urine in one, and on autopsy findings in the rest. Papillary necrosis was bilateral in three-fourths of the cases. The clinical picture varied. Most of the patients (67%) presented with chills and fever. Flank pain and dysuria were present in 11 patients (41%). As a rule oliguria was rare and progressive uremia was uncommon. In cases diagnosed at post-mortem, the patients had succumbed to infection or to a primary severe extrarenal disorder with the possibility of RPN having been entertained clinically in only half these cases prior to autopsy.
 ...
PMID:Renal papillary necrosis: an update. 703 74

This study analyzes the obstetric cases seen by 1 consultant firm at the Riyadh Military Hospital in Saudi Arabia between December 4, 1978-July 1, 1979. Of 487 patients referred to the booking clinic by primary care physicians, only 384 patients attended. Many patients were advanced in pregnancy when seen in the primary care department and were seen by the obstetricians only when admitted to the labor floor. A retrospective analysis of the notes was made and the results assessed of those patients under the care of 1 consultant firm. Patients attending the antenatal clinic underwent the routine investigations and clerking procedures. Iron deficient anemia was rarely seen (2.6%), and the need for iron or vitamin replacements was based on hematological indices. Megaloblastic anemia was detected in only 1 case. Very few abnormal hemoglobinopathies (1.6%) were found. Diabetes and rheumatic and congenital cardiac disease were occasionally seen. Grand multiparity was common, although very few problems arose. The incidence of mild preeclampsia was 2.6%, compared with 20-30% for the U.K. It was rarely necessary to resort to surgical induction for suspected post-maturity. The incidence of preterm infants was between 4.7-5%. Salbutamol was used in the obstetric unit, being the only available beta-adrenergic agonist for the suppression of uterine activity. Patients were not adverse to taking tablets during pregnancy, but they were aware that drugs can reach the baby through the mother's milk. There was no major problem with the predominantly male medical staff. Contraception was freely discussed in the clinics and wards. Patients in higher social classes found it fully acceptable, but those in lower classes always insisted on discussions with the male partner and rarely was it accepted. Hospital delivery was acceptable to many patients, yet others gave birth at home and were ignorant of the hospital facilities available. A reasonable perinatal mortality rate is reported (15/1000) but the study does not consider those patients not attending the new hospital for delivery.
 ...
PMID:Initial findings in a new obstetric unit in Saudi Arabia. 708 Jan 67

Glycosylated hemoglobin (GHb) was estimated in normal and diabetic human, rat, and dog hemolysate by m-aminophenylboronic acid (PBA) affinity chromatography and the results compared with the values determined using two ion-exchange (ION-E) methods and a colorimetric thiobarbituric acid (TBA) method. There was a good correlation between the values estimated by PBA and both ION-E chromatography methods for the human samples (r = 0.83, P less than 0.0002, r = 0.86, P less than 0.002). In diabetic rat and dog hemolysates, PBA chromatography demonstrated higher glycosylated hemoglobin than in normal hemolysate. In both species, there was an excellent correlation between the PBA-estimated GHb and plasma glucose levels (rat r = 0.79, P less than 0.001; dog r = 0.67, P less than 0.003). The ION-E and TBA methods were not as effective in separating diabetic from normal samples and correlated less well with plasma glucose levels. PBA chromatography relies on the interaction of m-amino phenylboronate with the hydroxyl groups of the glucose residues attached to hemoglobin. It is not affected by intra- or interspecies variations in the hemoglobin moiety and should be adaptable for measurement of GHb in a number of laboratory animals and in patients with hemoglobinopathy. It is not affected significantly by temperature and may offer advantages over the ION-E method in the routine determination of human glycosylated hemoglobin.
Diabetes 1982 Aug
PMID:The measurement of glycosylated hemoglobin in man and animals by aminophenylboronic acid affinity chromatography. 716 May 42

Capillary isoelectric focusing (CIEF) with electro-osmotic zone displacement of normal and pathological hemoglobins (Hb) is reported. CIEF is performed in untreated, open-tubular, fused-silica capillaries of 75 microns internal diameter using methylcellulose for dynamic column conditioning. After direct injection of hemolysates mixed with carrier ampholytes, high resolution separation of Hb variants, including Hb A1c, A, F, D, S, E and A2, is obtained, this permitting unambiguous characterization of Hb patterns of normal adults, newborns, patients with diabetes, different hemoglobinopathies and thalassemia syndromes. Qualitatively, the CIEF data compare well with those obtained by gel isoelectric focusing and high-performance liquid chromatography. CIEF is demonstrated to be a simple, rapid and fully instrumental approach to Hb analysis. Run times of less than 20 min make CIEF an attractive method for routine Hb investigations and screening programs.
 ...
PMID:Application of dynamic capillary isoelectric focusing to the analysis of human hemoglobin variants. 751 28

The authors studied 31 cases of coronary artery disease with normal or minimally diseases coronary arteries in black Africans, 29.8% of 104 coronary patients undergoing coronary angiography in this series. These 31 cases comprised 16 cases of infarction, 10 cases of angina, 3 ventricular aneurysms and 2 cases of silent ischemia in diabetic patients. Twenty-five patients were men (80.6%). There were 6 women (19.3%) two of whom presented in the post-partum period. The average age of these patients was 45 years (males: 47.7 years; females: 41.8 years). The following risk factors were noted: smoking (60%), hypertension (25.8%), obesity (29%), diabetes (12.9%), serum cholesterol (average 2.15 g/l), serum triglycerides (average 1.25 g/l). The risk index per patient was 1.29. In comparison with coronary patients with angiographic coronary lesions (n = 73), the patients with normal angiography were significantly younger, comprised more females and had fewer risk factors (especially hypertension and diabetes), though this was not statistically significant. The prevalence of inaugural infarction was 81.2% in the cases of infarction with normal coronary arteries. These infarcts may be complicated by ventricular aneurysm formation. Spontaneous spasm was observed in 3 out of 31 patients (9.6%) at coronary angiography. A provocative test was performed in only 2 cases and 1 was positive. This deserves further study and may have therapeutic implications. The authors emphasise the high incidence of hemoglobin S or C traits (57.1%). These heterozygotic hemoglobinopathies could be a risk factor in these coronary patients with normal coronary angiography.
 ...
PMID:[Coronary disease with normal coronarography in the black Africans: epidemiological and clinical data in 31 cases. Role of abnormal hemoglobins]. 823 68

We describe a case of hemoglobinopathy detected on admission for examination for high blood glucose levels and abnormal liver function. In 1991, it was pointed out that he had postprandial hyperglycemia. In 1994, at age 60, he had lassitude and anorexia. He was admitted to our hospital on the suspicion of diabetes mellitus and liver disease. Glycosylated hemoglobin levels was very high, but the 75 gram oral glucose tolerance test result was within the normal range. After abstinence from alcohol, his glutamic oxaloacetic transaminase, glutamic pyruvic transaminase and gamma glutamyl traspeptidase became normal. Diabetes was excluded and abnormal hemoglobinopathy had been suspected. We analyzed his abnormal hemoglobin. In isoelectro-phoresis a fast moving variant was detected suggesting the presence of abnormal hemoglobin at the cathode. We fractionated hemolytic globin by CM-chromatography and detected an abnormal peak before the alpha chain band. Subsequently, we sequenced isolated abnormal alpha chain and detected the substitution of Ariginine for Glutamamine at position 92 (Hb J Cape Town). So far he has not demonstrated any symptoms or signs of HbJ Cape Town. Hemoglobinopathy is not uncommon in aged people.
 ...
PMID:[A case of abnormal hemoglobin (HbJ Cape Town) with high serum levels of HbAlc]. 865 77

During the past year, there has been increased understanding of the ocular manifestations of various cardiovascular and hematologic disorders. Carotid and vertebral artery lesions may lead to significant and varied ophthalmic pathology. Disorders of blood pressure may influence the intraocular pressure and play a role in the progression of glaucoma. Cardiovascular risk factors such as smoking, hyperlipidemia, hypertension, and diabetes mellitus, may also play a role in the development of anterior ischemic optic neuropathy. Several cardiac anomalies as well as the cardiac use of streptokinase have been reported to have secondary ocular involvement. Both benign and malignant hematologic disorders may result in serious ocular morbidity. Recent publications have focused on the secondary ophthalmic complications from the hemoglobinopathies, problems with blood viscosity, the lymphomas, the leukemias, and bone marrow transplantation.
 ...
PMID:Ocular manifestations of cardiovascular and hematologic disorders. 1016 Apr 27

The monitoring of diabetic patients by evaluating glycated protein levels is now widely accepted and performed. The microchromatographic version of the high performance liquid chromatography method is the technique most frequently used in clinical practice. The DCA 2000 instrument (Bayer Diagnostics, Milan, Italy), based on an immunochemical technique, has been proposed for the rapid and simple evaluation of HbAlc, using even capillary blood. We evaluated 171 subjects including 22 healthy volunteers, 78 type 2 diabetic patients with different degrees of metabolic control, 11 women affected by gestational diabetes mellitus (GDM), 6 patients with hyperlipemia, 38 patients with chronic renal failure, 13 diabetic patients with chronic renal failure, and 3 patients with hemoglobinopathies. The DCA 2000 model was compared with the Diamat HPLC system. Data from within-run imprecision studies showed excellent precision, for both DCA 2000 and the HPLC system. The correlation between the two different systems, as shown by other statistical evaluations, was good (y = 0.911x + 0.462, r = 0.923). Results from the control group and diabetic patients were used to compare the two methods. Values obtained using the DCA 2000 were significantly lower (p < 0.0001) than those obtained with the HPLC system, in both healthy subjects and diabetic patients. To detect possible interferences, selected samples were analyzed from patients with hyperlipemia, diabetes and chronic renal failure, and hemoglobinopathies. While in the case of hyperlipemia, an acceptable correlation coefficient between the two systems was confirmed (y = 1.047x - 1.236, r = 0.876), in the case of chronic renal failure the correlation turned out to be very low (y = 0.254x + 3.456, r = 0.203). Our results indicate that the DCA 2000 gives accurate and reliable results in the clinical field of interest.
 ...
PMID:Evaluation of diagnostic reliability of DCA 2000 for rapid and simple monitoring of HbA1c. 1092 29

Measurement of glycated hemoglobin in diabetic patients is an established procedure for evaluating long-term control of diabetes. The Diabetes Control and Complications Trial (DCCT), as well as the United Kingdom Prospective Diabetes Study (UKPDS), confirmed the direct relationship between the degree of glycemic control as estimated by glycohemoglobin (GHb) determinations and the development and progression of long-term complications in diabetic patients. Samples with known interferences of HbA(1c) determination as hemoglobinopathies are specifically excluded from certification testing and there are no guidelines or requirements for comparability of samples containing hemoglobin (Hb) variants. This paper reviews the interference of Hb variants on determination methods of glycated hemoglobin as they result in false HbA(1c) results.
Diabetes Metab Res Rev
PMID:Hemoglobin variants and determination of glycated hemoglobin (HbA1c). 1130 74

Bone marrow transplantation (BMT) has the potential to treat hemoglobinopathies (sickle cell and thalassemia) autoimmunity (diabetes, lupus, multiple sclerosis, rheumatoid arthritis, Crohn's colitis) and enzyme deficiency states. Graft versus host disease (GVHD) is a major complication and limitation to the therapeutic application of BMT. There have been many clinical trials and experimental animal models that have attempted to control GVHD through the engineering of the donor bone marrow cells (BMC). Historically, several methods have demonstrated effectiveness in controlling GVHD; however they were also associated with a marked increase in the rate of graft failure. Highly purified hematopoietic stem cells (HSC) engraft quite readily in genetically-matched recipients while they do not engraft as easily in MHC-disparate recipients. The numbers of HSC must be increased 100-200 fold in order to overcome the allogeneic barrier. We were the first to phenotypically and to functionally characterize a novel cell in the bone marrow that enables engraftment of highly purified HSC in allogeneic recipients. The discovery of graft facilitating cell populations has resulted in the restoration of the engraftment-potential of purified HSC between genetically-disparate individuals. The addition of facilitating cells (FC) to T cell-depleted BMC grafts results in allogeneic engraftment without GVHD or graft failure. New strategies of BMC engineering that retain FC and HSC but avoid GVHD have allowed successful engraftment in mismatched and older recipients. These techniques have expanded the therapeutic potential of BMT to virtually every candidate as well as to non-malignant diseases in which the morbidity associated with conventional BMT could not be accepted. This article reviews the transition of the FC technology from bench to bedside and discuss the potentially broad-reaching applications of BMT and mixed chimerism.
 ...
PMID:Bone marrow cell graft engineering: from bench to bedside. 1134 54


<< Previous 1 2 3 4 5 6 7 8 Next >>