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E Pras

Publications and source records attributed to E Pras.

83 records · Page 5Linked to original sources
PubMed1992

Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

BACKGROUND: Familial Mediterranean fever is an autosomal-recessive disease characterized by acute attacks of fever with sterile peritonitis, pleurisy, or synovitis. The biochemical basis of the disease is unknown, but determining the chromosomal location of the gene for the disorder should be a first step toward defining the biochemical events. METHODS AND RESULTS: As part of a systematic genome-wide search, we sought evidence of linkage between familial Mediterranean fever and chromosome 16 DNA markers in 27 affected non-Ashkenazi Jewish families from Israel. Two loci from the subtelomeric region of the short arm of chromosome 16 (16p) had lod scores sufficient to establish linkage (a score greater than or equal to 3). One DNA marker (D16S84) gave a maximal lod score of 9.17 (odds of 10(9.17) to 1 in favor of linkage) at a recombination frequency (theta) of 0.04. A probe associated with the hemoglobin alpha complex (5'HVR) gave a maximal lod score of 14.47 at a theta of 0.06. Multipoint linkage analysis indicated that the following was the most likely gene order: the centromere, the gene for familial Mediterranean fever, D16S84, hemoglobin alpha, and the telomere. The maximal multipoint lod score was 19.86. There was a striking degree of homozygosity at chromosome 16p loci in the affected offspring of eight consanguineous couples. CONCLUSIONS: The gene that causes familial Mediterranean fever in non-Ashkenazi Jews maps to the short arm of chromosome 16.

Centromere↗
PubMed1992

Open controlled therapeutic trial of intravenous immune globulin in relapsing-remitting multiple sclerosis.

Ten patients with relapsing-remitting multiple sclerosis were treated with intravenous immune globulin, 0.4 g/kg per day for 5 consecutive days, and then with additional booster doses of immune globulin of 0.4 g/kg, once every 2 months, for the next 12 months. Ten untreated patients with relapsing-remitting multiple sclerosis who were matched with the study patients for age, disease duration, and number of attacks per year served as controls. Immune globulin treatment was well tolerated, with no side effects. The exacerbation rate decreased from 3.7 +/- 1.2 exacerbations per year before treatment to 1.0 +/- 0.7 exacerbations per year during the treatment in the immune globulin-treated patients, while it remained unaltered in the controls. The posttreatment Kurtzke Expanded Disability Status Scale score decreased from a mean of 4.45 to 4.15, whereas in controls it increased from 3.55 to 3.75. The results suggest that immune globulin suppresses the ongoing pathologic process in multiple sclerosis and may be a promising treatment to prevent disease exacerbations.

Adult↗
PubMed1992

Yersinia enterocolitica endocarditis on a prosthetic valve.

Yersinia entercolitica endocarditis has rarely been described before. This is the first report of prosthetic valve Yersinia enterocolitis endocarditis, complicated by infected brain embolization. The patient, however, completely recovered after 6 weeks of combined therapy with ceftriaxone and gentamicin.

Brain Abscess↗
PubMed1991

[Preajmaline-induced cholestatic hepatitis].

2 cases of cholestatic hepatitis due to preajmaline recovered when the drug was stopped. One was a 40-year-old woman, and the other a 74-year-old man whose jaundice lasted for 8 months. Approximately 40 patients with preajmaline-induced hepatitis have been described in the literature. All recovered except 1, who developed biliary cirrhosis while using preajmaline in conjunction with other hepatotoxic drugs.

Adult↗
PubMed1991

Corynebacterium CDC group A-4 native valve endocarditis.

A patient with endocarditis caused by Corynebacterium CDC Group A-4 is described. This is the first case in the literature of endocarditis caused by this bacteria, and is unique in that the patient was immune competent and the infection occurred on a native valve. This case illustrates that corynebacteria cannot be considered a contaminant and that the exact pathogen should be identified.

Aged↗
PubMed1991

Close association of HLA-B51 and B52 in Israeli patients with Behçet's syndrome.

Epidemiological data, family history, clinical data, and HLA typing were studied in three groups of patients with Behçet's syndrome: six Israeli Ashkenazi Jews, 29 non-Ashkenazi Jews, and three Israeli Arabs. HLA-B51 and B52 were present in 24/38 (63%) and 8/38 (21%), respectively, of the patients compared with 13/151 (9%) of the control group for both cases, a relative risk of 18.2 and 2.8 respectively. The syndrome was found in six of the 34 families. Ninety five per cent of the affected family members were either B51 or B52 positive. Eleven of the 14 families (79%) chosen for study contained a close relative of the proband who had recurrent oral ulcers. All the relatives with ulcers, except for one, were B51 or B52 carriers. Recurrent oral ulcers in the patients with Behçet's syndrome began a few years before other manifestations of the syndrome occurred. Our findings suggest that (a) HLA-B51 and HLA-B52 are primarily associated with Behçet's disease of Israeli patients; (b) the familial occurrence of this syndrome is high and occurs predominantly in the B5 positive group; (c) recurrent oral ulcers may be the first symptom of Behçet's syndrome, appearing early in life; HLA analysis can provide the clue for a correct diagnosis; (d) ulcer recurrence is common among members of a family containing a patient with Behçet's syndrome.

Behcet Syndrome↗
PubMed1991

Urinary retention associated with ipratropium bromide.

A 69-year-old man was hospitalized for exacerbation of chronic obstructive lung disease. Treatment with nebulized ipratropium bromide resulted in urinary retention that resolved once the drug was discontinued. Urinary retention is a rare complication of ipratropium bromide. Because all of the cases described in the literature occur in elderly men with prostate hypertrophy, the drug should be used cautiously in this group of patients.

Administration, Inhalation↗
PubMed1991

Heterotypic leukocyte aggregation in the peripheral blood of patients with leukemia, inflammation and stress.

This study deals with the question of whether the aggregates of leukocytes in the peripheral blood are homo- or heterotypic. One hundred-fifty individuals with leukemia, inflammation, and physical and mental stress, were examined. It was found that the various cell populations of the peripheral blood are represented in the aggregates and that aggregates are generally heterotypic. Normal and malignant leukocytes were noted in aggregates of patients with leukemia, suggesting that adhesive mechanisms are similar for both normal and malignant leukocytes. This was also supported in two animal models, one with leukocytosis of normal cells and the other with leukocytosis of leukemic cells, in which the state of leukocyte adhesiveness/aggregation in the peripheral blood correlated with tissue leukostasis. The possibility exists that "non specific stickers", present in the peripheral blood, promote interactions between the white blood cells, normal and malignant, and between these cells and the endothelium.

Adolescent↗
PubMedDate not supplied

Mapping of the familial Mediterranean fever gene to chromosome 16.

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever, synovitis, peritonitis, or pleurisy. Some patients eventually develop systemic amyloidosis. The biochemical cause of the disease is unknown. We have conducted a genome-wide search for the FMF locus using 125 different DNA markers and mapped the FMF gene to the short arm of chromosome 16. The study was performed on 35 Israeli families primarily of North African and Iraqi origin. For the five markers D16S82 (p41-1 Sacl), D16S80 (24-1 Taq1), D16S84 (pCMM65 Taq1), D16S83 (pEKMDA2-1 Rsal), and HBA (5'HVR Rsal) we obtained maximum lod scores of 2.72 (theta = 0.08), 10.34 (theta = 0.04), 9.66 (theta = 0.050, 9.35 (theta = 0.03), and 14.31 (theta = 0.08), respectively. Multipoint analysis with HBA and D16S84 defined as a fixed loci gave a maximum lod score of 19.86 centromeric to D16S84. Crossovers defined by these markers place the FMF gene in an area of approximately 5 cM between D16S80 and D16S84. Other genes mapped to this area (16p13.3) include phosphodiesterase IB (PDE1B), hydroxyacyl-glutathione hydrolase (HAGH), phosphoglycolate phosphatase (PGP), and the gene that causes adult polycystic kidney disease (PKD1). None of these genes bear an obvious pathophysiological relationship to FMF. Using additional markers from this region we hope to localize more precisely the FMF gene and to offer the possibility of prenatal diagnosis in selected cases. Our ultimate goal is to isolate and characterize the FMF gene.

Africa, Northern↗
PubMedDate not supplied

Paclitaxel and carboplatin concurrent with radiotherapy for primary cervical cancer.

BACKGROUND: Concurrent radiochemotherapy is currently considered the new standard treatment in locally advanced cervical cancer. PATIENTS AND METHODS: Eight women with cervical cancer stage IB2-IVA were treated with standard radiation therapy in combination with standard carboplatin (AUC=2, once weekly, x 6) and escalating doses of paclitaxel (60 mg/m2, once weekly, x 4, then x 5 and x 6). RESULTS: At the lowest dose level, four weekly paclitaxel cycles in six patients, three developed grade III diarrhoea and one severe radiation enteritis several weeks after radiotherapy. Two patients did not achieve complete remission and underwent additive salvage hysterectomy. All patients remained free of local recurrence, but one patient had distant metastases after 13 months. The median disease-free survival was 25 months with a median follow-up of 26 months. CONCLUSION: Standard pelvic radiotherapy in combination with weekly carboplatin and paclitaxel is poorly tolerated due to dose-limiting diarrhoea.

Adult↗