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 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.
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PMID:[Coronary disease with normal coronarography in the black Africans: epidemiological and clinical data in 31 cases. Role of abnormal hemoglobins]. 823 68

The treatment of non-traumatic ischaemic osteonecrosis of the femoral head (ONFH) remains problematical and there is evidently scope to seek for a medical treatment of this disease which often leads to a surgical procedure for hip prosthesis. If we exclude the context of hemoglobin disorders, necrosis appears mainly in adults, when their limb bones contain a fatty marrow. Investigations such as intramedullary pressure measurement and transosseous phlebography suggest a disorder of the intraosseous blood circulation. Various studies in animals and man have provided arguments indicating that a kind of intraosseous 'obesity' due to hyperplasia and/or hypertrophy of the fatty tissue of the femoral marrow play a role in the development of necrosis. In this respect, the blood flow of the yellow marrow is close to ischemia, whereas red marrow flow can be very high. In various conditions, mainly hemolytic anemias, the femoral yellow marrow can convert to red marrow, which has also been described in anemias induced by blood loss. If it is not thought unreasonable to consider ONFH an 'ischemic' disease, these observations are an encouragement to attempt treatment by repeated phlebotomies. This procedure may locally restore red marrow, and then an adequate blood flow which could stabilize or even reverse the lesions if they are diagnosed early.
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PMID:Phlebotomy: a treatment of ischaemic necrosis of the femoral head? Analysis of a hypothesis. 1087 13

The United States Preventive Services Task Force has provided an evidence-based guideline indicating that bone mineral density (BMD) testing is appropriate for all women aged 65 or older. This does not preclude BMD testing in younger postmenopausal women but places the onus on the treating physician to justify the procedure to the patient and often the patient's insurance carrier. There are very few circumstances in which BMD testing is appropriate for healthy premenopausal women, but BMD testing in younger postmenopausal women is often appropriate: when there is a family history of osteoporosis with fracture, a personal history of fracture as an adult, and a medical, surgical or therapeutic history that might be associated with accelerated bone loss or increased risk of fracture. Medical conditions include intestinal diseases associated with malabsorption, such as non-tropical sprue, or primary hyperparathyroidism. Women who have neurologic conditions that increase the risk of falling should also be tested. There are data to suggest that patients with hemoglobinopathy are at increased risk for osteoporosis. Surgical conditions include the increasingly performed surgery for obesity and other surgery resulting in bowel resection (e.g., for inflammatory bowel disease). The major medication-related concern is corticosteroid therapy, but chronic or over-treatment with thyroxine, and chronic heparin therapy, should also be considered risk factors for osteoporosis. When performing a BMD test for the first time, it is essential to remember that 50% of women at menopause will have a negative T-score, but this does not imply that the patient has indeed lost any bone from her peak bone mass.
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PMID:Is BMD testing appropriate for all menopausal women? 1633 12

Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis. Risk factors for hypovitaminosis D are people with darker skin pigmentation, use of sunscreen, insufficient ultraviolet B exposure, prematurity, living in northern latitudes, malnutrition, obesity, exclusive breastfeeding, low maternal vitamin D level, certain medications, drinking unfortified cow's milk, liver failure, chronic renal insufficiency, cystic fibrosis, asthma, and sickle cell hemoglobinopathy. This review highlights and summarizes the molecular perspectives of vitamin D deficiency and its potential adverse health outcomes in pediatric age groups. The recommended treatment regimen is beyond the scope of this review.
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PMID:Pediatric Hypovitaminosis D: Molecular Perspectives and Clinical Implications. 2822 97

In this study, we perform a full genome-wide association study (GWAS) to identify statistically significantly associated single nucleotide polymorphisms (SNPs) with three red blood cell (RBC) components and follow it with two independent PheWASs to examine associations between phenotypic data (case-control status of diagnoses or disease), significant SNPs, and RBC component levels. We first identified associations between the three RBC components: mean platelet volume (MPV), mean corpuscular volume (MCV), and platelet counts (PC), and the genotypes of approximately 500,000 SNPs on the Illumina Infimum DNA Human OmniExpress-24 BeadChip using a single cohort of 4,673 Northern Nevadans. Twenty-one SNPs in five major genomic regions were found to be statistically significantly associated with MPV, two regions with MCV, and one region with PC, with p<5x10-8. Twenty-nine SNPs and nine chromosomal regions were identified in 30 previous GWASs, with effect sizes of similar magnitude and direction as found in our cohort. The two strongest associations were SNP rs1354034 with MPV (p = 2.4x10-13) and rs855791 with MCV (p = 5.2x10-12). We then examined possible associations between these significant SNPs and incidence of 1,488 phenotype groups mapped from International Classification of Disease version 9 and 10 (ICD9 and ICD10) codes collected in the extensive electronic health record (EHR) database associated with Healthy Nevada Project consented participants. Further leveraging data collected in the EHR, we performed an additional PheWAS to identify associations between continuous red blood cell (RBC) component measures and incidence of specific diagnoses. The first PheWAS illuminated whether SNPs associated with RBC components in our cohort were linked with other hematologic phenotypic diagnoses or diagnoses of other nature. Although no SNPs from our GWAS were identified as strongly associated to other phenotypic components, a number of associations were identified with p-values ranging between 1x10-3 and 1x10-4 with traits such as respiratory failure, sleep disorders, hypoglycemia, hyperglyceridemia, GERD and IBS. The second PheWAS examined possible phenotypic predictors of abnormal RBC component measures: a number of hematologic phenotypes such as thrombocytopenia, anemias, hemoglobinopathies and pancytopenia were found to be strongly associated to RBC component measures; additional phenotypes such as (morbid) obesity, malaise and fatigue, alcoholism, and cirrhosis were also identified to be possible predictors of RBC component measures.
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PMID:GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort. 3119 88