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)

Sixty four cases of retinal and vitreous hemorrhages are reported during a 15 months prospective study in Bamako. Main diseases associated with hemorrhages are high blood pressure (56% of cases), hemoglobinopathies (33%) and diabetes mellitus (23%). In 28% of cases several aetiologies are connected. SC hemoglobin is a frequent aetiology of vitreous hemorrhage (40%). Hemoglobin AS and AC, generally asymptomatic, are also liable to hemorrhages. Terson and Eales syndromes, Werlhof disease, hemophilia and AIDS are most uncommon. In 8% of cases there is not any aetiology.
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PMID:[General causes of retinal and vitreous hemorrhages in Mali]. 181 88

Epidemiological studies have shown a consistent downward trend in the incidence and mortality of stroke in industrialized communities. There are however no reports on the pattern of stroke in Saudi nationals and expatriates in Saudi Arabia. The types and etiologies in 372 subjects (262 Saudis, 110 non-Saudis) are described. Males outnumbered females in the ratios of 2.2:1 and 8.2:1 for Saudis and non-Saudis, respectively. The frequency of stroke increased steadily with age until the 7th decade in Saudis but dropped sharply after the 6th in expatriates. The frequency of stroke types in Saudis was ischemic (61%), hemorrhagic (17%) and unspecified (22%) as against 46, 47, and 7% respectively in non-Saudis. Intracerebral hemorrhage was more frequent than subarachnoid hemorrhage (SAH) and was encountered more often in Saudis than in non-Saudis; SAH was 3 times more common in expatriates than in Saudis. The major predisposing factors for stroke were hypertension, diabetes mellitus, and cardiac disorders. Abnormal hemoglobinopathies, especially sickle cell anemia, were rare. The differences observed in the age and sex distribution and in the stroke pattern between Saudi nationals and expatriates most likely reflect the demographic structure existing in Saudi Arabia.
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PMID:Stroke in a tertiary hospital in Saudi Arabia: a study of 372 cases. 186 67

A 1-page check-off form that can be used to evaluate a woman's risk factors for oral contraceptives, IUD or diaphragm and spermicide, and provide a permanent health record of the evaluation, has been revised to reflect lower-dose pills and new information. Each risk factor is assigned points in columns under each contraceptive method, so that a score of 10 suggests that a contraindication may exist against that method. Some of the changes for orals are lower scores for age 40, unless other risk factors co-exist, especially smoking. Liver disease, hepatitis and gall bladder disease were eliminated, but liver tumors, endometrial cancer and cholestatic jaundice of pregnancy were each given 10 points. Scores were altered slightly for chloasma, hemoglobinopathies, hypertension and diabetes. Scores for the diaphragm were lowered for pelvic relaxation risk but 5 points were introduced for history of urinary tract infection. For IUDs, multiple sexual partners and abnormal bleeding are added as risks.
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PMID:Family-planning risk-scoring system: updated. 201 9

The cases of 100 consecutive persons (156 eyes) seen with peripheral proliferative retinopathy were reviewed in a retrospective fashion. Associated systemic and ocular diseases included sickling hemoglobinopathies (49%), branch retinal vein obstruction (20%), diabetes mellitus (9%), sarcoidosis (4%), intravenous drug abuse (4%), the ocular ischemic syndrome (1%), pars planitis (1%), Coats' disease (1%) and retinitis pigmentosa/retinal detachment (1%). In ten (10%) patients no obvious cause for the development of new blood vessel growth could be ascertained.
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PMID:Peripheral proliferative retinopathies. 244 26

By a combination of DEAE-cellulose chromatography and cation-exchange high-performance liquid chromatography glycosylated components of hemoglobin (Hb) A2 were separated and quantitated from persons with diabetes and some common hemoglobinopathies. Hb A2Ic values correlated well with total glycosylated Hb levels assayed by affinity chromatography, and Hb AIc, Hb SIc and Hb CIc levels, determined by high-performance liquid chromatography. The results indicate that Hb A2Ic may serve as an alternate index of glycemic control.
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PMID:High-performance liquid chromatographic separation and quantitation of glycosylated hemoglobin A2 as an alternate index of glycemic control. 395 86

The determination of glycosylated hemoglobin (GHb) has been found useful in the medium term assessment of diabetic control. Levels of GHb have been shown to be influenced by hematological abnormalities and methodology amongst other factors. Hemoglobinopathies are common in Nigerians and other people of African descent. No work, to our knowledge, has been done in Nigeria to study the effect of hemoglobinopathies on the levels of GHb in Nigerians or Africans. In this study, GHb levels in non-diabetic Nigerians (with hemoglobin genotypes AA, AS, and SS) were determined by short column chromatography and thiobarbituric acid colorimetry. Levels of GHb obtained by the microchromatographic method were significantly different from one another in the three subject groups. The group mean GHb level was highest in subjects with sickle cell anaemia and lowest in subjects with sickle cell trait. However, using the colorimetric method, the mean GHb level of the normal subjects with hemoglobin genotype AA was not significantly different from that of subjects with hemoglobin genotype AS or SS. Results of GHb determinations by microchromatography (for which several commercial kits are available) in subjects with sickle cell anemia or trait must be interpreted with caution. The colorimetric method, though more tedious, gives more reliable results and should be the method of choice in subjects with concurrent diabetes and sickle cell anemia or trait.
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PMID:Influence of methodology on glycosylated hemoglobin values in Nigerian subjects with sickle cell hemoglobinopathy. 646 29

The present study is a two year-follow up of 105 eyes (including 27 aphakic eyes), operated on retinal detachment by silicone oil injection after pars plana vitrectomy. This procedure was chosen either as an initial treatment (37 eyes) or after a classical treatment by external indentation had failed (68 eyes). All cases of retinal detachment were of bad prognosis: macular hole, massive periretinal proliferation, isolated or associated with a tear. Cases of vitrectomy with silicone injection for proliferative retinopathy due to diabetes or hemoglobinopathy were excluded. Operations were performed under a surgical microscope with the help of a corneal contact lens (Goldmann, Kl oti or O' Malley ). Functional and anatomical results, as well as complications, were evaluated at least 2 years after treatment. In 24,7% of cases, vision was improved as compared to preoperative visual acuity. Cataract was a constant complication in all phakic eyes, as silicone oil had not been removed within the first 6 months. Intraocular hypertension developed frequently both in phakic and in aphakic eyes (29,5 and 33% of cases, respectively) and responded poorly to medical or surgical treatment. Other complications occurred less frequently. They were corneal edema, conjunctival hyperemia and uveitis. Pain imposed the evisceration of 2 eyes. These complications were the consequence of silicone oil toxicity and/or the mechanical effects of intraocular oil. Besides treatment-associated complications, early (36 during the first 6 months) as well as late (2 between the 12th and 18th months) recurrences of retinal detachment were observed. In contrast to these fair functional results, anatomical results were good in most cases.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Treatment of retinal detachment by vitrectomy and injection of silicone oil. Long-term results and complications in 105 cases]. 647 Apr 12

Glycosylated hemoglobin (HbA1) is considered to be representative of prior blood-glucose levels and is being used in pregnant and nonpregnant diabetic patients as a possible index of both long and short-term glucose-control. Factors other than blood-glucose concentration have been reported to affect its value. Variant hemoglobin is one of them. HbA1 and blood-glucose levels were measured in pregnant patients at high risk for diabetes for screening for abnormal carbohydrate metabolism. HbA1 was measured by cation exchange column chromatography and glucose was measured by hexokinase reaction. The mean HbA1 in patients with normal blood sugars was 6.17 +/- 0.6 percent. A value of HbA1 of less than 5 percent as measured by cation exchange column chromatography was highly predictive (P less than 0.001) of hemoglobinopathies (S or C). The mean HbA1 of randomly selected matched patients with "normal" Hb was 5.94 +/- 0.72 percent. In patients with thalassemia, HbA1 values as measured by cation exchange column chromatography were elevated despite normal carbohydrate tolerance. While interpreting the results of HbA1 in the management of pregnant diabetics, the above fact should be kept in mind.
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PMID:Glycosylated hemoglobin (HbA1) and hemoglobinopathies in pregnancy. 650 39

Vaccine-induced levels of antibody to Streptococcus pneumoniae of approximately 250-300 ng of antibody nitrogen/ml are protective against pneumococcal disease. Side effects of vaccination are not severe and are generally confined to local reactions at the site of inoculation. Patients with a documented high risk of acquiring pneumococcal disease include the elderly, especially those with underlying cardiopulmonary disease, and those with sickle cell anemia, Hodgkin's disease, a renal transplant, multiple myeloma, asplenia, and nephrotic syndrome. People with insulin-dependent diabetes mellitus or renal failure do not appear to be at high risk. All of these groups, except those with multiple myeloma, respond to vaccine with levels of antibody that are protective for many but not all of the serotypes included in the vaccine. Immunosuppression, splenectomy, and hemoglobinopathy depress antibody response. Duration of vaccine-induced antibody is unknown but may be shorter than that in normal persons. Preliminary guidelines for vaccination are proposed.
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PMID:Assessment of the antibody response to pneumococcal vaccine in high-risk populations. 702 58

This review primarily deals with methods for separations of hemoglobins. An introduction considers electrophoretic methods as well as those involving isoelectric focusing and chromatography. The main advantages or disadvantages of each procedure are discussed after each technical description. The chromatographic methods are mainly limited to those used in clinical biochemistry. The second section treats the main diagnostic problems typically met with in the field of the hemoglobinopathies and deals successively with the diagnosis of hemoglobinopathies in the adult and the newborn. Numerous variants have been described in the adult, and among them Hb-S and Hb-C variants are the most frequent. Unstable or high oxygen affinity variants of hemoglobin are also considered. Finally, a new strategy for diagnosis is proposed. A special section is devoted to the diagnosis of thalassemia syndromes. The prenatal diagnosis of hemoglobinopathies is also discussed in some detail with a view to preventing the birth of homozygous children. This update ends with a chapter on the interest of the assay of hemoglobins A1c in the pathology of diabetes mellitus.
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PMID:An update on electrophoretic and chromatographic methods in the diagnosis of hemoglobinopathies. 703 6


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