Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Bone ischaemia can result from four mechanisms: (1) interruption of arterial inflow (e.g. after femoral neck fracture), (2) occlusion of venous outflow (possibly due to capsular distension), (3) intravascular arteriolar occlusion (as in sickle cell disease); (4) extravascular sinusoidal tamponade (e.g. in Gaucher's disease). Osteonecrosis following high-dosage corticosteroid administration or alcohol abuse could, theoretically, be due to either intravascular fat embolism or sinusoidal tamponade resulting from the marked fat deposition in the marrow. It is proposed here that, except in traumatic osteonecrosis, vascular insufficiency is part of a cycle of events resembling the familiar soft tissue compartment syndrome of the forearm or leg; no matter whether it started with venous stasis, arteriolar occlusion or capillary tamponade, the result is a diffuse and self-enhancing ischaemia involving all three haemodynamic abnormalities in a vicious circle. The very earliest stage of "idiopathic" osteonecrosis is characterised chiefly by marrow changes; for some (undetermined) period the ischaemic effects are potentially reversible-provided the vicious circle is broken by relieving the high intraosseous pressure. Effective management involves: (a) early diagnosis by MR imaging, measurement of intraosseous pressure and venography: (b) decompression of the bone, and (c) elimination of the etiological factor. Later stages of osteonecrosis cannot be treated by decompression and will need realignment osteotomy, prosthetic replacement or arthrodesis.
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PMID:[Clinical and therapeutic concepts in ischemic femur head necrosis]. 221 48

This document establishes Department of Veterans Affairs (VA) regulations to implement specific provisions of the Veterans Omnibus Health Care Act of 1976 and the Veterans' Benefits and Services Act of 1988 concerning the confidentiality of certain medical records. These regulations protect the confidentiality of VA records pertaining to drug abuse, alcoholism or alcohol abuse, infection with the human immunodeficiency virus (HIV), and sickle cell anemia.
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PMID:Confidentiality of certain medical records--VA. Final rule. 1017 36

Salmonella infections are widespread particularly in tropical zones. Each year, 12.5 million cases of typhoid fever are reported with an incidence of 540 cases for every 100,000 inhabitants in developing countries versus 0.2 cases in industrialized countries. Pleuropulmonary manifestations constitute the most common extra-intestinal manifestation of salmonella infection. Counts are usually carried out in the digestive tract. Respiratory tract manifestations result from blood-borne diffusion from mesenteric lymph nodes, but gastroenteritis goes unnoticed in 2 of 3 cases. Predisposing factors are frequent including cancer, previous graft placement and immunosuppressant therapy, sickle cell disease, alcohol abuse, and pre-existing pulmonary disease. Clinical manifestations are usually acute but subacute forms cannot be ruled out. Cough is a common symptom observed in 25% of patients with typhoid fever. Pneumonia is uncommon overall (1%) but occurs in 50% of patients with pleural effusion, empyema, lung abscess, or bronchopleural fistula. A few cases of adult respiratory distress syndrome have been described in the literature. Recognition is important since these manifestations may signal previously unsuspected underlying pulmonary disease. Treatment requires appropriate antimicrobial therapy and close surveillance to prevent recurrence or complications.
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PMID:[Pleuropulmonary manifestations of salmonellosis]. 1039 2

An increase in osteoblast and osteocyte apoptosis has been demonstrated in mice and humans receiving glucocorticoids and may be involved in the pathogenesis of the associated osteonecrosis. To examine the spatial relationship between osteocyte apoptosis and glucocorticoid-induced osteonecrosis, we determined the prevalence of osteocyte apoptosis in whole femoral heads obtained from patients who underwent prosthetic hip replacement because of osteonecrosis due to chronic glucocorticoid treatment (n = 5), alcoholism (n = 3), and trauma (n = 1) as well as in femoral neck cores from patients with sickle cell disease (n = 5). Abundant apoptotic osteocytes and cells lining cancellous bone were found juxtaposed to the subchondral fracture crescent in femurs from the patients with glucocorticoid excess. In contrast, apoptotic bone cells were absent from the specimens taken from patients with trauma or sickle cell disease and were rare with alcohol abuse. These results indicate that glucocorticoid-induced osteonecrosis is a misnomer. The bone is not necrotic; instead, it shows prominent apoptosis of cancellous lining cells and osteocytes. Glucocorticoid-induced osteocyte apoptosis, a cumulative and irreparable defect, could uniquely disrupt the mechanosensory function of the osteocyte network and thus start the inexorable sequence of events leading to collapse of the femoral head.
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PMID:Apoptosis of osteocytes in glucocorticoid-induced osteonecrosis of the hip. 1094 2

Two hundred twenty-eight hips in 187 patients with avascular necrosis of the femoral head were treated with vascularized fibular transplant from March 1989 to March 2000. The etiologic factors associated with the disease included corticosteroids in 84 patients (44%; 101 hips, trauma in 25 patients (13%; 29 hips), alcohol abuse in 24 patients (12%; 28 hips), and 41 hips (18%) were classified as idiopathic. Systemic disorders, including systemic lupus erythematosus, sickle cell anemia, inflammatory bowel disease, pregnancy, and dysbaric disease were observed in 12, nine, four, three, and one hip(s), respectively. Of the 228 hips operated on, 184 hips (152 patients) were assessed postoperatively with followup ranging from 1 to 10 years (mean, 4.7 years). Using the Steinberg classification system, 39 hips (21%) were in Stage II; 45 hips (25%) were in Stage II; 77 hips (42%) were in Stage IV; and 23 hips (12%) were in Stage V. Of the 184 hips treated, 101 (54%) remained stable postoperatively, whereas 69 (38%) had progression, and 14 hips (8%) were converted to total hip arthroplasty. Of the 69 hips that had progression, 44 (64%) did not progress until 6 to 10 years after the procedure, whereas 25 (36%) progressed within the first 5 years postoperatively. The best results were obtained in patients with Stage II osteonecrosis in whom 95% of the hips did not progress postoperatively. In contrast, only 39% of the hips in patients with Stage V osteonecrosis remained stable. Preoperative and postoperative clinical evaluation using the Harris hip score showed an increase from 85 to 96 points in hips with Stage II disease; from 74 to 91 points in hips with Stage III disease; from 69 to 85 points in hips with Stage IV disease; and from 61 to 76 in hips with Stage V disease. The current results show that the vascularized fibular graft is an excellent procedure for the precollapse stages and a valuable alternative for patients with Stages III, IV, and V of the disease.
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PMID:Treatment of avascular necrosis of the femoral head with vascularized fibular transplant. 1134 25

The femoral head is the main location of avascular osteonecrosis. The lesion remains asymptomatic for several months or years before causing non specific hip pain. Risk factors have been identified, mainly femoral neck fractures, corticosteroid therapy and related conditions (lupus erythematosus, organ transplantations), alcohol abuse, dyslipidemia, sickle cell disease, HIV infection, caisson workers, Gaucher's disease, male sex. When typical radiological signs are lacking, MRI is the best investigation. Progression toward hip joint damage highly depends on the necrotic volume assessed at MRI. The combination of plain radiographs which help staging the severity of osteonecrosis, and MRI which indicates the prognosis of the lesion, determines the therapeutic options: symptomatic pain relief therapies or surgical treatment (core decompression, osteotomy or total hip replacement).
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PMID:[Osteonecrosis of the femoral head]. 1200 11

This Bulletin examines the causes of subfecundity -- the diminished ability to reproduce -- and its effect today and in the past on the fertility, or actual reproductive performance, of individuals and, hence, populations. By definition, all real populations are subfecund since all experience some degree of involuntary biological factors affecting coitus, conception, or the ability to carry a conceptus to live birth which reduces their fecundity below the estimated biological population maximum of 15 children per woman. Affecting both men and women, these factors fall into 5 categories: genetic factors such as blood group incompatibilities and inherited sickle cell anemia or diabetes; psychopathology, including psychic stress and behavioral disorders (e.g., drug and alcohol abuse); infectious diseases such as gonorrhea, malaria, tuberculosis, and postabortion infection; malnutrrition, including the chronic undernutrition of the 3rd World and the overnutrition of developed societies; and hazards posed by increasing amounts of radiation and toxic chemicals in the environment. Reducing subfecundity requires improved living conditions, avoidance of or protection from known hazards, and adoption of medical advances which now can help 40 to 60% of subfecund couples. But even in the U.S. fertility would certainly rise among the 15% of couples now estimated to be involuntarily childless and the 10% who have fewer children than they want, and among disadvantaged groups, and teenagers.
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PMID:Frustrated fertility: a population paradox. 1233 56

Alcohol abuse is common in patients with chronic painful medical disorders, but it has not been studied in sickle cell disease (SCD). In a prospective cohort study of SCD adults, 31.4% were identified as abusing alcohol. There were no significant differences between alcohol abusers and nonabusers on demographics, biological variables, depression, anxiety, measures of crisis and noncrisis pain, or opioid use, but abusers reported more pain relief from opioids than nonabusers did. Alcohol abusers had fewer unscheduled clinic visits, emergency room visits, hospital days, and any health care utilization for SCD, but this was only significant for emergency room visits. Quality of life was similar between both groups, except that alcohol abusers unexpectedly had better overall physical summary scores. Alcohol abusers were more likely to report coping by ignoring pain, diverting attention, and using particular self-statements.
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PMID:Alcohol abuse in sickle cell disease: the Pisces Project. 1788 9

Stroke is an increasing problem in sub-Saharan Africa, even in children. High rates of hypertension, diabetes, alcohol abuse, smoking, insufficient fruit and vegetable consumption, sickle cell disease, HIV infection, antiretroviral use and race are likely contributing factors. Although often considered as related to increasing wealth, stroke is more strongly related to poverty, and in turn increases it. Case-fatality rates are high and premature death and years of life lost are a major problem. We propose an approach to stroke prevention and treatment that takes into account the real situation on the ground and can be applied in sub-Saharan Africa, an area where stroke units are largely not feasible and many patients do not reach hospitals. Involvement of community and faith-based organisations, use of simple diagnostic tests, emphasis on clinical examination to differentiate between haemorrhagic and ischaemic stroke, prompt initiation of aspirin therapy and training of community nurses on essential management of stroke should be urgently implemented.
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PMID:Stroke: a realistic approach to a growing problem in sub-Saharan Africa is urgently needed. 2155 93

Avascular necrosis (AVN) is idiopathic in about 40% of cases. The pathophysiology of avascular necrosis remains incompletely elucidated. Here, we report a case that underlines the role for inherited factors in AVN of the femoral heads. Idiopathic AVN of the femoral heads occurred in five members of the same family (a woman, her two paternal aunts, her male paternal cousin and her female paternal cousin) at a mean age of 42.4 years (range, 33-58 years). Standard pelvic radiographs showed Arlet and Ficat stage 4 AVN in three patients and stage 3 in two patients. None of the patients had a history of glucocorticoid therapy, alcohol abuse, or trauma. All five patients underwent investigations for a cause, including blood cell counts, a lipid profile, coagulation tests, testing for antinuclear antibodies, hemoglobin electrophoresis, ultrasonography of the abdomen, and standard radiographs of the long limb bones. The results were normal or negative, ruling out known hereditary causes of AVN such as sickle cell anemia and Gaucher disease. Many cases of familial AVN of the femoral head have been described in patients with sickle cell anemia or Gaucher disease. However, only five families with idiopathic familial AVN of the femoral heads have been reported (three in the US and two in Taiwan). All the patients in these families had isolated bilateral AVN of the femoral heads without AVN at other sites.
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PMID:Idiopathic avascular necrosis of the femoral heads in five members of a Moroccan family. 2304 71


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