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)

The clinical aspects of Hemoglobinopathy S in children of a black family from Zair living in Belgrade are discussed in the paper. The parents and two brothers are heterozygous carriers for patologyc hemoglobines; those children had, sauf permanent anaemia, the crysis of dyspnea, cyanosis, cough, evidence of subperiosteal bone formation, associated with vitamin D deficiency. The Youngest child, girl two years of age, is homozygous with complete Sickle cell disease: hand-foot syndrome, heterotopic paravertebral hematopoetic tissue, lung infarctions, cardiomegaly, severe drepanocytic anaemia; she succumbed in an a attack after many episodes of severe hypoxia.
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PMID:[Hemoglobinpathy S--clinical manifestations in children in a Zairian family]. 61 14

M. pneumoniae is a common cause of pneumonia. The diagnosis is suspected when the patient presents with symptoms suggesting primary atypical pneumonia including cough, fever, chills, headache, and malaise in association with a segmental or subsegmental pulmonary infiltrate(s), the white blood cell count is normal or only slightly elevated, and the Gram stain of the sputum (if any can be obtained) reveals polymorphonuclear leukocytes and few bacteria. The diagnosis is more difficult when the patient presents with symptoms not suggestive of pneumonia including lethargy, dyspnea, and a 1- to 4-week history of shortness of breath without cough or fever in association with diffuse reticulonodular or interstitial pulmonary infiltrates. The disease in the previously healthy host is usually benign and self-limiting. However, the course is shortened by the administration of tetracycline derivatives or erythromycin. M. pneumoniae pneumonia can occur in association with other diseases including sickle cell anemia, sarcoidosis, systemic lupus erythematosus, Hodgkin's disease, and various other immunodeficiency states. In these patients mycoplasma pneumonia can be very serious. Although there is no pathognomonic clinical or radiographic presentation, careful consideration of epidemiologic, clinical, laboratory, and radiographic data are usually sufficient to suggest the diagnosis in most patients.
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PMID:Mycoplasma pneumonia. 676 79

Fifty five sickle cell anaemia (SCA) patients at the Kenyatta National Hospital were studied with a view to elucidating their cardiovascular status. Their age range was 13 to 27 years (median 18.9 years). They comprised 27 males and 28 females and their mean haemoglobin concentration was 8.5 +/- 1.4 g/dl. Haemoglobin level of 8.0-9.9 g/dl seen in 30 patients was noted to confer the lowest incidence of exertional dyspnoea and palpitation. Similarly, patients with this haemoglobin level had the lowest mean heart rate. The mean blood pressure was 114.9 +/- 9.9 mmHg systolic and 64.6 +/- 10 mmHg diastolic. Blood pressures, ejection fraction (EF) and differential fibre shortening (%D) were found to be directly related to haemoglobin level, whereas cardio-thoracic index (CTI) and left ventricular dimensions were inversely related to haemoglobin level. Mean echocardiographic measurements were within normal limits and left ventricular functions were found to be normal in 80.9% of the patients indicating that the majority of SCA patients at the Kenyatta National Hospital have good cardiac function.
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PMID:Cardiovascular features in adolescents and adults with sickle cell anaemia. 830 1

Bone marrow necrosis (BMN) is a relatively rare entity and has been associated with a poor prognosis. It is most commonly found in patients with neoplastic disorders, severe infections and sickle cell anemia. An unusual case of antiphospholipid syndrome (APS) with extensive bone marrow necrosis is described in a 27 year old woman. The patient presented with severe pancytopenia, some cognitive impairment resulting from a previous cerebrovascular accident, fever, hypertension, dyspnoea, tachycardia, hepatosplenomegaly, and vaginal bleeding. Her laboratory findings included a strongly positive Coombs' test (anti-IgG and anti-C3d), a prothrombin time of 23 seconds and an activated partial thromboplastin time of 45 seconds. Anticardiolipin antibody tests were positive. Antinuclear and anti-DNA antibodies were negative but the anti-SM test was positive. A bone marrow biopsy specimen was reported as showing extensive necrosis. The patient was treated with steroids, transfusion, and plasma exchange with some clinical improvement but her pancytopenia did not respond and necessitated frequent transfusions. This case lends further support to the association between APS and BMN.
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PMID:Bone marrow necrosis in antiphospholipid syndrome. 915 83

The pulmonary complications remain the prime cause of morbidity and mortality in sickle cell disease. The pathogenetic mechanisms consists both of an alteration of the rheological properties of the blood, the existence of a hypercoagulability state and above all specific interactions between the abnormal sickle cells and the vascular endothelium and a dysregulation of the vascular reactivity in which nitrous oxide intervenes. The acute chest syndrome (ACS) is characterised by chest pain with dyspnoea and recent radiological abnormalities and it is an acute lung complication whose problem is one of aetiology. The infectious pneumonias are rarely documented. On the other hand, alveolar hypoventilation linked to infarcts of the thoracic ribs, thoracoabdominal trauma, subdiaphragmatic pain, the administration of analgesics causing respiratory depression, obesity or sleep disturbance are frequent causes of ACS. Bronchoalveolar lavage has revealed a frequency of fat emboli following infarcts in the long bones. Pulmonary emboli is rarely a cause. Pulmonary thrombosis is a serious complication, the diagnosis is difficult and is seen in a predisposed clinical setting. The treatment of ACS rests on controlled hydration and antibiotic therapy, oxygen therapy and controlled analgesic therapy. The indications for blood transfusion and for exchange transfusion merits a better evaluation. In the long term patients with sickle cell disease present with a failure of normal thoracopulmonary growth with a restrictive ventilatory defect and progressive diminution in the transfer factor of carbon monoxide with age. A history of ACS favours chronic lung disease. Pulmonary arterial hypertension is less frequent.
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PMID:[The sickle cell anemia lung from childhood to adulthood]. 960 86

Pulmonary complications are the leading cause of morbidity and mortality in sickle cell disease patients. Acute chest syndrome (ACS), in which chest pain and dyspnea, occurs in combination with a recent chest radiograph abnormality, raises both diagnostic and therapeutic challenges. The pathogenesis of ACS involves alterations in blood rheology, increased coagulability, and, above all, increased adhesion of sickle cells to the vascular endothelium and nitric oxide-mediated dysregulation of vascular reactivity. Sickle cell disease thus impacts all the cells in the vascular environment. Recently gained insights into pathophysiology offer hope that new treatments for preventing and treating acute and chronic pulmonary complications will soon become available.
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PMID:[Pathophysiology of acute thoracic syndrome]. 1008 76

A 19-year-old black male with previous history of mild bronchial asthma presented sudden dyspnea and died in a state of respiratory distress in spite of resuscitation attempts. Autopsy showed typical lesions of acute bronchial asthma in a context of long-standing asthma associated with a massive and disseminated intravascular sickling. Hemoglobin electrophoresis diagnosed heterozygous sickle cell disease. This rare case raises the problem of the accuracy of death certificate, especially the difficulties to distinguish postmortem lesions as the underlying cause of death or the contributory cause of death.
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PMID:Postmortem revelation of sickle cell disease following fatal episode of acute bronchial asthma. 1195 32

A deficiency in airway nitric oxide (NO) could contribute to pulmonary vaso-occlusion in sickle cell disease (SCD). We measured the fractional expired concentration of NO (FE(NO)) by chemiluminescence during a slow vital capacity maneuver against a positive pressure of 16 cm H(2)O at an expiratory flow rate of 50 mL/sec in 44 stable ambulatory adults with SCD and 30 healthy controls. A history of acute chest syndrome was present in 29 patients, and 22 complained of dyspnea. Mean +/- SD FE(NO) was significantly reduced in the SCD group compared with controls (14.8 +/- 8.4 vs. 24.9 +/- 13.5 ppb, P < 0.001). SCD patients with dyspnea had lower FE(NO) than those without dyspnea (10.1 +/- 5.7 vs. 19.6 +/- 8 ppb, P < 0.001) and those with a history of ACS had lower values than those no episodes of ACS (13.0 +/- 8.3 vs. 18.4 +/- 7.6 ppb, P < 0.05). There was a weak correlation between FE(NO) and percent-predicted DLCO (r = 0.4, P = 0.02) among the SCD patients. We conclude that exhaled NO is reduced in adults with SCD, and this may play a role in the pathogenesis of acute chest syndrome and chronic sickle cell lung disease.
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PMID:Decreased exhaled nitric oxide in sickle cell disease: relationship with chronic lung involvement. 1260 89

The Acute Chest Syndrome (ACS) is defined by the association of chest pain with dyspnea, fever, a recent radiological abnormality and hyperleucocytosis. Acute pulmonary complications are the primary cause of mortality in sickle cell patients. We report a 19-year old male patient with homozygous sickle cell anemia who consults for respiratory symptomatology and bone algia. The diagnosis of ACS by left pneumopathy due to pneumococcal infection was based on the clinical tests, chest x-ray and blood culture. The appearance of pneumopathy in patients suffering from sickle cell anemia is explained by the functional asplenia and the inability of phagocyte cells to destruct bacteria. These incidents are triggered by alveolar hypoventilation, fat embolism from bone infarction, infections, pulmonary oedema and thrombosis. The evolution of these ACS by pneumopathy depends on their early diagnosis and treatment but also on the sensitivity of the germs to antibiotics.
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PMID:[Acute chest syndrom in a patient with homozygous sickle cell anemia]. 1577 54

Acute chest syndrome is a frequent complication of sickle cell disease. This syndrome is characterized by recent infiltrate on chest X-ray with chest pain or fever or dyspnea. We report the case of a 26-year-old man in whom an acute chest syndrome with fat embolism was the inaugural sign of sickle cell disease. This report illustrates the frequency of potentially serious fat embolism in the acute chest syndrome and the importance of bronchoscopy and bronchoalveolar lavage (fatty macrophages) for determining the etiology of acute chest syndrome.
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PMID:[Acute chest syndrome as the inaugural sign of sickle cell anemia. A case report and review of the literature]. 1684 Oct


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