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1/390. risk factors for meningococcal disease in Cape Town.

    OBJECTIVE: To determine the risk factors associated with meningococcal disease among children living in Cape Town. DESIGN: A case-control study was conducted from October 1993 to January 1995. SETTING: The study population consisted of all children under the age of 14 years who were resident in the Cape Town metropolitan region. Cases and controls were selected from red cross war Memorial Children's Hospital. RESULTS: A total of 70 cases and 210 controls were interviewed. Significant risk factors for meningococcal disease included being breast-fed for less than 3 months (adjusted odds ratio (OR) 2.4); overcrowding (adjusted OR 2.3); and age less than 4 years (adjusted OR 2.3). Exposure to two or more household members who smoked was also a risk factor, but only in the presence of a recent upper respiratory tract infection (adjusted OR 5.0). CONCLUSION: This is the first case-control study in south africa examining risk factors for meningococcal disease. It provides further evidence for reduction of smoking, reduction of overcrowding and promotion of breast-feeding as important public health measures.
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keywords = infection
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2/390. inhalation anthrax in a home craftsman.

    inhalation anthrax with complicating subarachnoid hemorrhage due to simultaneous infection with two capsular biotypes of bacillus anthracis of different virulence for the mouse is reported. The patient, a home craftsman, acquired his infection from imported animal-origin yarn.
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ranking = 2
keywords = infection
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3/390. An unusual case of subluxation of C.3-C.4.

    A case is reported of spontaneous subluxation of C.3 on C.4 in a 6-year-old boy due to an upper respiratory infection after surgical treatment for muscular torticollis.
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4/390. torsades de pointes ventricular tachycardia induced by clarithromycin and disopyramide in the presence of hypokalemia.

    We report a 76-year-old woman who developed TdP ventricular tachycardia induced by combined use of clarithromycin and disopyramide. She had a history of myocardial infarction 5 years earlier and has taken disopyramide for supraventricular arrhythmias. In addition, she had taken clarithromycin for upper respiratory tract infection. On admission, an ECG showed prolongation of QTc interval to 0.71 seconds and self-terminating TdP occurred several times. disopyramide was metabolized by the cytochrome enzyme CYP3A4 and clarithromycin competitively inhibits this enzyme, probably resulting in an increase in plasma concentration of disopyramide. We should consider this possibility when prescribing clarithromycin in combination with antiarrhythmic agent disopyramide.
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keywords = infection
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5/390. Postanginal septicaemia with external jugular venous thrombosis: case report.

    Postanginal septicaemia is a syndrome of anaerobic septicaemia, septic thrombophlebitis of the internal jugular vein, and metastatic infections, that follows a localized infection in the area drained by the large cervical veins. The syndrome was well-known and often fatal in the preantibiotic era. It is now rather rare, presumably as a result of the almost routine use of prophylactic antibiotics. The symptoms are classic, and it should be suspected in any case where septicaemia and metastatic lesions are preceded by a head and neck infection. We report a case that is typical, except that branches of the external jugular vein were thrombosed. To our knowledge this has not been reported previously.
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ranking = 3
keywords = infection
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6/390. XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

    We report on a family with severe X-linked mental retardation (XLMR) and progressive, severe central nervous system deterioration. Three of the five affected males died of secondary complications before the age of 10 years and none have survived past the age of 10. These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. All had a characteristic facies, including downslanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. The two older boys showed cerebral atrophy by CT. No metabolic abnormalities were identified. Three obligate carriers had an IQ less than 80. The causal gene has been localized distal to DXS8103 in Xq28, a region spanning 5cM. No other XLMR disorder with these manifestations have been localized to this region and this appears to be a new disorder.
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ranking = 5
keywords = infection
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7/390. De novo complete trisomy 5p: clinical report and FISH studies.

    We describe a de novo trisomy 5p in a 1-year-old severely retarded boy. The complete short arm of chromosome 5 segregated as an additional marker chromosome in all metaphases. The marker was identified as 5p by conventional cytogenetic techniques (GTG, GBG, CBG) and molecular cytogenetic techniques (whole chromosome-painting probe, probes for the cri-du-chat region and the centromere, and additionally high-resolution multicolor banding using a chromosome 5-specific dna probe cocktail). The clinical findings were similar to the established trisomy 5p phenotype including macrocephaly, facial abnormalities, tracheobronchial defects with subsequent respiratory infections, hypotonia, and psychomotor retardation. To the best of our knowledge this is the first description of an isolated complete 5p trisomy without involvement of the aberrant chromosome in any structural chromosomal rearrangements.
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8/390. Homozygous deletion of the CYP21A-TNXA-RP2-C4B gene region conferring C4B deficiency associated with recurrent respiratory infections.

    The central class III region of the human major histocompatibility complex contains highly polymorphic genes that are associated with immune disorders and may serve as susceptibility factors for viral infections. Many HLA haplotype specific rearrangements, duplications, conversions and deletions, occur frequently in the C4 gene region. Genetic deficiencies of complement components are associated with recurrent occurrence of bacterial infections. We have studied the complement profile and the class III genes 5'-RP1-C4A-CYP21A-TNXA-RP2-C4B-CYP21B-TNXB -3' in a 4-year-old Caucasian patient. He has suffered from several pneumonias caused by respiratory viruses, eight acute otitis media, prolonged respiratory infections and urinary tract infection. complement c4 was constantly low, but the other complement components, from C1 to C9, C1INH, factor B and properdin, were within normal limits. Immunological evaluation gave normal lymphocyte numbers and functions with the exception of subnormal T cell response to pokeweed mitogen. Molecular studies of the C4 gene region in the patient revealed homozygous deletion of CYP21A-TNXA-RP2-C4B generating total deficiency of C4B and the flanking 5' region up to C4A, and in the father a missing CYP21A gene. Further investigations are needed to elucidate the relationship between C4B deficiency and susceptibility to infections.
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ranking = 9.106727600203
keywords = infection, bacterial infection
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9/390. Polymorphic light eruption occurring in common variable hypogammaglobulinaemia, and resolving with intravenous immunoglobulin therapy.

    A 55-year-old woman with a past history of lower respiratory tract infections presented with a photosensitive eruption. Polymorphic light eruption (PLE) was diagnosed on the basis of the temporal relationship to sun exposure and the diagnosis was supported by positive monochromator irradiation tests in the ultraviolet A wavelength spectrum. Investigation of the patient's immune status identified low levels of all immunoglobulin (Ig) subtypes consistent with common variable hypogammaglobulinaemia. Intravenous Ig replacement therapy, instituted to minimize risks from bacterial infections, was commenced and over the ensuing months resulted in a complete resolution of the PLE. PLE is considered to represent a type IV hypersensitivity reaction directed against a cutaneous autoantigen induced by exposure to ultraviolet light. In PLE, nonspecific immunomodulatory mechanisms of intravenous Ig may be active, such as a reduction in the synthesis of cytokines and a blockage of the IgG Fc receptors on macrophages.
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ranking = 2.106727600203
keywords = infection, bacterial infection
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10/390. diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay.

    There are no widely applied definitive laboratory tests for the diagnosis of ataxia telangiectasia (AT). We, and others, have previously reported significantly elevated levels of in vivo somatic mutation in blood samples from known AT patients, observations that might form the basis for a useful prospective laboratory test for confirmation of a clinical diagnosis of AT. In the present case, a 4 1/2-year-old black female was suspected of having AT based on ataxic gait and chronic upper respiratory infections. blood work-up showed low IgG2 and elevated alpha-fetoprotein (AFP), consistent with the AT phenotype. Her peripheral blood karyotype was normal, however, with no spontaneous breakage observed among 100 solid stained metaphases. lymphocytes from AT patients often show elevated levels of chromosome rearrangement, especially at sites of immunoglobulin and T-cell receptor genes. Therefore, a blood sample was analyzed with the glycophorin A (GPA) in vivo somatic mutation assay. The GPA assay detects and quantifies the phenotypically variant erythrocytes resulting from loss of heterozygosity for the MN blood group. The patient had a 10-fold increased frequency of variant erythrocytes with a phenotype consistent with simple loss of the N allele, which is characteristic of AT. In addition, the variant cell distribution for this patient showed three other, more qualitative hallmarks of AT: a normal frequency of allele loss and duplication events, a unique ridge of cells of intermediate phenotype between the normal and mutant peaks, and evidence of similar ongoing mutational loss of the M allele. Together with clinical data, these distinctive qualitative and quantitative features of the GPA assay allow for a diagnosis of AT with a projected accuracy of 95%. Therefore, we suggest that the GPA assay, which can be performed on < 1 ml of blood and completed in less than a day, be considered as a confirmatory laboratory test for a clinical diagnosis of AT.
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ranking = 1
keywords = infection
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