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

The purpose of this study was to determine whether differences in ferritin levels due to race were large enough to alter interpretation of ferritin test results during pregnancy. Patients were screened for hemoglobinopathies and other diseases known to affect ferritin levels. Maternal blood samples were obtained at delivery and analyzed for hemoglobin, hematocrit, and ferritin. One hundred thirty-four white and 69 black parturients were studied. Race was found to significantly affect serum ferritin levels p less than 0.001). Whereas blacks had a mean hemoglobin level 0.6 g/dl lower than whites, their mean serum ferritin level was 7.6 ng/ml higher (18.97 +/- 13.6 vs 11.41 +/- 9). No differences were found in the number of red blood cells, smoking status, or most other clinical variables. The mean serum ferritin level of anemic black parturients was higher, although not significantly different, than that of white nonanemic parturients (14.2 +/- 9.5 vs 12.1 +/- 9.4 ng/ml). Furthermore, increasing parity significantly decreased serum ferritin in both races (p less than 0.004). This was not due to differences in the interval between pregnancies. The results show conclusively that black parturients have significantly higher ferritin levels than white parturients. Therefore, different norms need to be established for blacks and whites if ferritin is used to screen for anemia during pregnancy.
J Am Coll Nutr 1989 Dec
PMID:The effect of race on serum ferritin during parturition. 262 Dec 96

A case of Salmonella costochondritis developed at a traumatic focus in a 37-yr-old Hispanic male without hemoglobinopathy or systemic disease. Bone scans and gallium scans were initially positive and remained abnormal, despite a variable clinical course and repeatedly negative serology and blood cultures. Scintigraphy was valuable for both detection and monitoring of antibiotic treatment, as well as providing localization for subsequent surgical resection.
J Nucl Med 1988 Dec
PMID:Gallium detection of Salmonella costochondritis. 319 13

The Cooperative Study of Sickle Cell Disease (CSSCD) is a multiinstitutional investigation of the natural history of clinical course of sickle cell disease from birth through adulthood. The study is not a trial; rather, it involves data collection at 23 institutions in a uniform, standardized fashion on 3800 patients. Recruitment aspects that were addressed include issues related to recruitment of different age groups, ranging from newborns to pregnant women to patients over 50 years of age; the need to include mildly affected patients to ensure that the study would not reflect only a severe hospital-based population; recruitment from rural populations; and the need to screen and enter a newborn population at birth. The recruitment goal of entering 3200 patients, including 2100 patients with SS hemoglobinopathy, over a 24-month period was accomplished after 27 months.
Control Clin Trials 1987 Dec
PMID:Recruitment in the Cooperative Study of Sickle Cell Disease (CSSCD). 344 Mar 86

Vaso-occlusive sickle cell crisis (VSCC) is the most common maternal complication in pregnancies associated with sickle hemoglobinopathies. Maternal and fetal morbidity and mortality secondary to this serious obstetric problem can be reduced significantly with a well-devised therapeutic plan, expert perinatal teams, and careful attention to obstetric and medical detail in a setting of comprehensive tertiary health care. A variety of better medical, obstetric, and neonatal care practices have helped considerably to improve the combined life span for affected mothers and fetuses. In the absence of any effective and safe pharmacologic agent to prevent sickle crisis, our experience suggests that adherence to the described management principles offers the greatest hope to the sickling parturient that her vaso-occlusive crises can be effectively managed for a healthy outcome, both for herself and for her baby.
Clin Perinatol 1986 Dec
PMID:Acute management of sickle cell crisis in pregnancy. 353 55

Support from the national sickle cell disease program in the United States is resulting in significant advances in health care. Ten regional comprehensive sickle cell centers provide a variety of management strategies. An example is the inauguration of neonatal diagnosis for sickle hemoglobinopathies, with parental education and the utilization of special follow-up clinics for affected infants. The administration of prophylactic antibiotics and improved vaccines for control of life-threatening infection is enhancing survival in infants and children. A number of antisickling agents are under preliminary clinical investigation in adult patients. Bone marrow transplantation represents another potential method for management of selected types of sickle cell disease. The results of a national cooperative study on the clinical course of the disease, which was inaugurated in 1978, is providing new information that will be helpful to clinicians and health planners. The federally funded sickle cell centers have effectively utilized interdisciplinary personnel to provide comprehensive medical care, psychosocial support, and patient education. These centers serve as models or bridges whereby the fruits of research activity can be more readily applied to the care of patients. This comprehensive approach, no doubt, can contribute to improvement in the survival of and quality of life for patients. There is, however, a need to continue national support for research efforts to attain a definitive cure for this serious, painful, and disabling illness, which affects about 50,000 people in the United States and many more in other countries. Currently, many families of affected patients are unable to cope personally with socioeconomic problems imposed by the long-term nature of this illness, insufficient income, inadequate insurance coverage, and escalating costs of health care. Clearly, there is a need for additional state and/or federal programs to provide supplements for the medical expenses incurred by persons with long-term handicapping diseases of genetic origin.
Am J Dis Child 1985 Dec
PMID:Advances in the treatment of sickle cell disease in children. 390 8

Glomeruli from 6 cases of sickle cell disease (SS) with the nephrotic syndrome (NS) were compared histologically and quantitatively with glomeruli from 9 cases of SS, 10 cases of sickle cell trait (SCT), 4 cases of other hemoglobinopathies, all without NS, and normal controls. Five of 6 patients with SS and NS had extensive reduplication of their glomerular basement membranes and mild mesangial proliferation. Similar but milder lesions occurred in SS without NS but not in SCT or controls. Incidental renal disease occurred in 1 patient with SS and NS. Nephrotic syndrome was probably secondary to effects of sickle cell disease. Glomeruli in SS were significantly larger (>70%) than in SCT and controls. Mean total glomerular area per unit area of cortex in SS with normal BUN significantly exceeded that of SCT, which, in turn, was significantly greater than that of controls. Mechanisms for the histologic lesions and hypertrophy of the glomeruli were suggested.
Am J Pathol 1974 Dec
PMID:Pathology of the glomerulus in sickle cell anemia with and without nephrotic syndrome. 461 Dec 24

Isoelectric focusing (IEF) of hemoglobin was compared to the classical chromatography of labeled globin chains for 22 antenatal diagnoses of hemoglobinopathies: 11 for beta thalassemia, and 11 for sickle cell disease. In all cases, the two methods gave identical results. The diagnosis was confirmed after birth or abortion. Three fetuses homozygous for beta thalassemia and one homozygous for sickle cell disease exhibited no Hb A by IEF, in contrast to normal fetuses or those heterozygous for one of the two hemoglobinopathies. In addition, blood samples obtained in other centers after abortion of 22 fetuses homozygous for beta + or beta 0 thalassemia exhibited no Hb A when analyzed by IEF. When Hb A was present, the respective proportions of Hb A and acetylated Hb F were determined by densitometry of the IEF gel. The Hb A/acetylated Hb F ratio obtained by IEF correlated well with the beta A/gamma ratio of globin chain synthesis, IEF requires 0.1 mg of unlabeled hemoglobin. It is performed in 90 min and several samples can be analyzed simultaneously. If present, maternal contamination of fetal blood must be eliminated by selective lysis of maternal (RBC) using the Orskov reaction. Improvements in this method to obtain suitable samples for IEF analysis are described.
Blood 1980 Dec
PMID:Prenatal diagnosis of hemoglobinopathies: comparison of the results obtained by isoelectric focusing of hemoglobins and by chromatography of radioactive globin chains. 615 34

Hemoglobinopathies are due to changes in the normal amino acid sequence of globin. Thalassemias result from imbalance in the normal coordinated synthesis of the globin subunits that make up the hemoglobin tetramer. It is now apparent that a single globin gene can have coding region mutations which simultaneously produce a structural defect (hemoglobinopathy) and a biosynthetic defect (thalassemia). It is likely that two distinct mutations within the same gene can occur and produce a hemoglobinopathy with features of thalassemia. In this review the authors discuss such disorders and include the Hb Lepore and Constant Spring variants, hyper-unstable globins, mutations which create alternative sites for mRNA splicing, and amino acid substitutions likely to be associated with an additional thalassemia lesion within the same gene.
Am J Pathol 1983 Dec
PMID:Thalassemic hemoglobinopathies. 635 93

Clinical records and scintigrams were reviewed of 18 patients with sickle cell hemoglobinopathies who had undergone combined technetium and gallium scintigraphy during 22 separate episodes of suspected osseous infection. The combined scintigrams were correctly interpreted as indicating osteomyelitis in four studies. Ga-67 localization was abnormally increased in all of these studies, including one where the Tc-99m MDP bone scan showed decreased activity, another where the bone scan was normal at the site of Ga-67 uptake, and two where the distribution of Tc-99m MDP and Ga-67 were incongruent. Of 18 studies in patients with infarction, the combined scintigrams were correctly interpreted in 16 and showed either no local accumulation of Ga-67 or less accumulation than that of Tc-99m MDP at symptomatic sites. In the other two studies, the scintigrams were falsely interpreted as indicating osteomyelitis and showed congruent, increased accumulation of both Tc-99m MDP and Ga-67 (with the latter of similar or greater intensity). This pattern must be considered indeterminate. Overall, the results indicate that the combination of technetium and gallium scintigraphy is an effective means to distinguish osteomyelitis from infarction in patients with sickle cell hemoglobinopathies.
Radiology 1984 Dec
PMID:Osteomyelitis and infarction in sickle cell hemoglobinopathies: differentiation by combined technetium and gallium scintigraphy. 649 77

To estimate the frequency of bacteremia in children with sickle cell hemoglobinopathies (SCHs) and to evaluate the usefulness of various findings in predicting septicemia, we reviewed the charts of 153 patients with SCH who made 326 emergency department visits in a one-year period. Ninety children were febrile (greater than 38.0 degrees C). Four children, three of whom were 2 years old or younger, were bacteremic with Streptococcus pneumoniae. A temperature greater than 40 degrees C occurred in three of the four and was more common than in those who had sterile blood cultures. Two of the five patients who were 2 years old or younger and who had the combination of a WBC count of 20,000/cu mm or more and a temperature of 39.5 degrees C or higher were bacteremic. These children were significantly more likely to have bacteremia than those with lower temperatures and WBC counts.
Am J Dis Child 1982 Dec
PMID:Fever in children with sickle cell hemoglobinopathies. 714 63


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