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Query: UMLS:C0002895 (sickle cell disease)
 11,747 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty five children aged 5 months to 15 years suffering from stroke were studied from August 1984 to July 1990 from two hospitals in order to determine the incidence, the etiological factors and the short term outcome of the stroke. The average annual incidence was 1.85 per 1000 pediatric hospitalizations. There was a progressive rise in the number of cases from 1985, with a peak in 1990. Motor impairment of one half of the body was the commonest clinical feature seen in 97.1% of the cases. Other clinical signs were: facial paralysis (62.9%) and aphasia (28.6%). The main etiological factors were: homozygous sickle cell disease (31.4%), heart disease (17.1%), cerebral malaria (14.3%) and meningitis (14.3%). No causative factor was identified in 7 patients (20%). The mortality rate was low (2.9%) and all the children had neurological deficit after a mean hospital stay of 15 days. Laboratory investigations including lipid analysis, platelet count, and skull X-rays proved to be of no diagnostic value. However, computed tomography (CT) scan confirmed the diagnosis of ischemic stroke whenever it could be done.
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PMID:Stroke in children in Yaounde, Cameroon. 789 Mar 41

Sickle cell disease is transmitted as an autosomal recessive trait. Symptoms of pallor, fever, abdominal and joint pain, and swelling of the liver, spleen, hands and feet first appear near the latter part of the first year of life. Intravascular sickling affects all organs. For clinical and therapeutic purposes, exacerbations may be classified as vasoocclusive or pain, aplastic, hemolytic or sequestration crisis. In addition to infection, complications include severe pain, cerebrovascular accidents, cholelithiasis, bone infarction, heart failure, hypotension and priapism. The most common cause of early childhood death is septicemia or meningitis due to Streptococcus pneumoniae. Complications may be reduced or prevented by early diagnosis through newborn screening, patient education, routine immunizations, administration of folic acid, pneumococcal and influenza vaccinations, penicillin prophylaxis, and early diagnosis and aggressive treatment of complications.
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PMID:Common problems in sickle cell disease. 781 Apr 78

Through migration and birth sickle cell disease has become an important health problem in the Netherlands: it is estimated that each year between 25 and 40 children are born with a form of sickle cell disease. A programme designed towards parental education, prevention and early intervention for complications of sickle cell disease (notably penicillin prophylaxis to prevent pneumococcal septicaemia and meningitis) may lead to reduction in morbidity. Early diagnosis is indicated since children with sickle cell disease will benefit most from such a programme in the first few years of life.
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PMID:[Neonatal screening for sickle-cell disease]. 906 25

The prevalence of drug-resistant Streptococcus pneumoniae (DRSP) has increased worldwide. Although unfavorable outcomes in meningitis due to DRSP have been well-described, the clinical impact of DRSP on other manifestations of pneumococcal infection warrants further study. Empiric combination vancomycin and extended-spectrum cephalosporin (cefotaxime or ceftriaxone) therapy is indicated for the following clinical indications: purulent meningitis, life-threatening pneumonia, and suspected sepsis in patients predisposed to invasive pneumococcal disease, for example, sickle cell disease, HIV infection, and nephrotic syndrome. In addition to clinical management issues, other implications of the emergence of DRSP include identification of resistant strains, local and national surveillance, and prevention. Preventive measures include judicious antibiotic use, appropriate use of the currently available 23-valent pneumococcal vaccine, and development and implementation of a protein-conjugate vaccine.
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PMID:The clinical impact of resistance in the management of pneumococcal disease. 942 4

A 10-year-old boy without previous illness was found to have sickle cell disease and pneumococcal meningitis. On completion of 10 days of treatment with penicillin, the only abnormality still present was paraplegia. Movements of the legs recovered gradually, and after 3 months he was walking normally. Paraplegia is rare in sickle cell disease and the prognosis is not always poor.
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PMID:Sickle cell disease, pneumococcal meningitis and paraplegia with recovery. 969 5

Approximately 2,000 infants with sickle cell disease are born each year in the United States. Sickle cell disease is an inherited disorder of red blood cell hemoglobin. Sickle cells increase adhesion and cause blockage in the small blood vessels, resulting in tissue damage. The cells' production of hemoglobin S results in two major pathophysiologic features of sickle cell disorders: chronic hemolytic anemia and vaso-occlusion. These disorders cause ischemic tissue damage and acute and chronic organ failure. Potential complications for children with sickle cell disease include vaso-occlusive events, splenic sequestration, bacterial septicemia from splenic hypofunction, aplastic crisis, pulmonary compromise including acute chest syndrome, renal tubular dysfunction and renal failure, priapism, aseptic necrosis, gallstones, delayed growth and development, leg ulcers, stroke and premature death. Three major sickle cell complications during the first years of life are dactylitis, splenic hypofunction and splenic sequestration. The risk for pneumococcal meningitis is 36 times greater in children with sickle cell anemia than for black children without the disease, and 314 times greater than for white children.
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PMID:The young child with sickle cell disease. 970 52

Sickle cell disease is associated with frequent and often severe infections as a result of immune function impairment and functional asplenia. Also, infection can trigger a vasoocclusive crisis. Pneumococcal bacteremia and meningitis are so severe as to warrant prophylactic penicillin therapy, which has provided a dramatic decrease in early mortality. Bacterial pneumonia is common in patients younger than four years, with most cases being due to S. pneumoniae, Haemophilus influenzae, Mycoplasma pneumoniae, and Chlamydia pneumoniae. Acute chest syndrome is both a difficult differential diagnosis and a common concomitant of bacterial pneumonia. Osteomyelitis is generally due to a salmonella, most often S. enteritidis; multiple foci are common and treatment is difficult, with some patients developing chronic osteomyelitis with sequestration. Parvovirus B 19 infection causes acute bone marrow failure. Malaria does not result in cerebral malaria but can lead to severe anemia or vasoocclusive crisis, and should therefore be effectively prevented. Antimicrobials are generally selected for efficacy against pneumococci (septicemia, meningitis), Salmonella (septicemia, meningitis, osteomyelitis), and mycoplasmas (pneumonia). Prophylactic therapy is of paramount importance and relies on long-term or lifelong penicillin therapy started at four months of age and on closely-spaced immunizations, most notably against pneumococci, the hepatitis B virus, S. typhi, and H. influenzae. Resistant pneumococcal strains have not been reported to cause prophylactic treatment failures. Conjugated pneumococcal vaccines are effective in protecting infants and should therefore be used in sickle cell patients.
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PMID:[Infection and sickle cell anemia]. 1008 75

Hemoglobin S/O(Arab) (Hb S/O(Arab)) is a rare compound heterozygous hemoglobinopathy characterized by the presence of two variant beta-globin chains: beta6Glu --> Val (Hb S) and beta121Glu --> Lys (Hb O(Arab)). The diagnosis of Hb S/O(Arab) requires electrophoresis on both cellulose acetate and citrate agar, since Hb O(Arab) co-migrates with Hb C at alkaline pH and close to Hb S at acidic pH. To date only case reports and small series of patients with Hb S/O(Arab) have been described. To better characterize the clinical and laboratory aspects of this unusual disorder, we reviewed the Duke University Medical Center experience. We identified 13 African-American children and adults with Hb S/O(Arab) ranging in age from 2.7 to 62.5 years. All patients had hemolytic anemia with a median Hb of 8.7 gm/dL (range 6.1-9.9 gm/dL), and a median reticulocyte count of 5.8% (range 1.2-10.3%). The peripheral blood smear typically showed sickled erythrocytes, target cells, polychromasia, and nucleated red blood cells. All 13 patients have had significant clinical sickling events including acute chest syndrome (11), recurrent vasoocclusive painful events (10), dactylitis (7), gallstones (5), nephropathy (4), aplastic crises (2), avascular necrosis (2), leg ulcers (2), cerebrovascular accident (CVA) (1), osteomyelitis (1), and retinopathy (1). Four patients have died, including two from pneumococcal sepsis/meningitis at ages 5 and 10 years, one of acute chest syndrome at age 14 years, and one of multiorgan failure at age 35 years. We conclude that Hb S/O(Arab) disease is a severe sickling hemoglobinopathy with laboratory and clinical manifestations similar to those of homozygous sickle cell anemia.
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PMID:Hemoglobin S/O(Arab): thirteen new cases and review of the literature. 1020 1

Pneumonia causes about three million deaths a year in young children, nearly all of which are in developing countries. Streptococcus pneumoniae (the pneumococcus) is the most important bacterial cause of pneumonia in young children and so is likely to be responsible for a high proportion of these deaths. The pneumococcus is also responsible for a substantial proportion of the 100,000-500,000 deaths that occur from meningitis in children each year. The incidence of invasive pneumococcal disease in children in the developing world is several times higher than in industrialized countries. This discrepancy may, in part, be due to socio-economic differences but genetic factors may also play a role. Children with sickle cell disease have a substantially increased risk of invasive pneumococcal infection and a search is being made for other possible genetic risk factors. Infection with human immunodeficiency virus (HIV) also predisposes to invasive pneumococcal disease and so the incidence of this disease in young children is expected to rise as increasing numbers of African and Asian children are born with a perinatally acquired HIV infection. Until recently, pneumococcal infections could be treated effectively with penicillin, a cheap and safe antibiotic. However, pneumococci that are resistant to penicillin are becoming prevalent in many countries, necessitating a change to more costly antibiotics which may be beyond the reach of the health services of poor, developing countries. The spread of antibiotic resistance has provided an added stimulus to the development of vaccines that might be able to prevent pneumococcal disease in infants. Recently developed polysaccharide-protein conjugate vaccines show promise and are now undergoing field trials. How deployment of these vaccines will influence the balance between invasive pneumococcal infections and asymptomatic nasopharyngeal carriage of pneumococci is uncertain.
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PMID:The epidemiology of pneumococcal infection in children in the developing world. 1036 3

Mannose-binding protein (MBP) is a serum lectin that participates in the innate immune response. MBP deficiency may constitute a risk factor in the development of infections. Three MBP structural variants have been identified with a dominant effect on MBP serum concentration. Similarly, polymorphisms in the promoter of the corresponding gene (HSMBP1B) have been related to variations of MBP concentration in serum. Children with sickle cell disease (SCD) have an increased susceptibility to infections with encapsulated organisms resulting in meningitis, septicaemia, and osteomyelitis. We have investigated the HSMBP1B genotype in 242 children with SCD living in Paris. Apart from the known variant alleles, we identified three novel ones and report their distribution in our sample population. In addition, we found rather unexpectedly an increased frequency of the variant alleles in patients who had not suffered severe infections.
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PMID:Genetic polymorphism of the mannose-binding protein gene in children with sickle cell disease: identification of three new variant alleles and relationship to infections. 1048 57


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