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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 613 records · Page 34Linked to original sources
PubMed1988

Mapping of a human fibrillar collagen gene, pro alpha 1 (XI) (COL11A1), to the p21 region of chromosome 1.

Type XI collagen is a minor and poorly characterized structural component of cartilage. Recently, cDNA and genomic clones coding for the pro alpha 1 chain of human Type XI collagen, formerly 1 alpha collagen, have been isolated and fully characterized. Here we have used one such probe to establish the chromosomal localization of the pro alpha 1 (XI) collagen gene (COL11A1) by hybridization to filter-bound DNA isolated from flow-sorted chromosomes and by in situ hybridization on metaphase chromosomes. This combination of approaches has enabled us to locate COL1A11 in the p21 region of chromosome 1. This represents the first mapping of a Type XI collagen gene and the first assignment of a collagen locus to chromosome 1. These studies also provide additional evidence for the nearly uniform dispersion of the human fibrillar collagen genes in the human genome.

Chromosome Banding↗
PubMed1988

Complex carbohydrates in the dietary management of patients with glycogenosis caused by glucose-6-phosphatase deficiency.

Carbohydrates with digestion characteristics between those of lente uncooked starches and rapidly digestible oligosaccharides were administered in a dose of 1.5 g/kg body weight to five patients with glycogenosis from glucose-6-phosphatase deficiency. Postprandial duration of normoglycemia and concentrations of blood insulin and lactate were determined. Uncooked barley groats in water, or incorporated in a meal turned out to behave as lente carbohydrates. Uncooked couscous in water, couscous incorporated in a meal, and partially cooked macaroni given as a meal behaved as semilente carbohydrates as compared with uncooked cornstarch and glucose. The in vitro determination of the digestibility index along with the in vivo tolerance test enables us to choose and incorporate semilente carbohydrates in the day-time treatment of patients.

Adolescent↗
PubMed1988

Efficacy of the lateral decubitus position in preventing pneumothorax after needle biopsy of the lung.

We evaluated the efficacy of the lateral decubitus position in preventing the development of pneumothorax after percutaneous needle biopsy of a well defined lung lesion. Fifty patients had such a procedure and were immediately placed in the lateral decubitus position for ten minutes, with the biopsied lung below. A chest x-ray film was obtained after the ten minute period, four to six hours later, and on the following morning. The number of pneumothoraces and the type of treatment needed in each case were recorded. Results in these 50 patients were compared to those previously obtained in 132 patients who had had an identical procedure and follow-up during the preceding four years. In all patients included as controls, we did the biopsy using an identical technique and in accordance with a specific written protocol. Both groups of patients were closely comparable in age and sex distribution, baseline values for arterial blood gases, results of prebiopsy tests of pulmonary function, and type, size, location, and distance from the pleural surface of the pulmonary lesions. A postbiopsy pneumothorax developed in 21 of 50 (42%) study patients, and in 46 of 132 (35%) controls (P not significant). Specific therapy was needed in ten (48%) and 26 (56%) of these cases, respectively (P = NS). We conclude that placing patients in the lateral decubitus position is not effective in significantly reducing the incidence of postbiopsy pneumothorax or the proportion of patients who will require specific therapy for this complication.

Biopsy, Needle↗
PubMed1988

Long-term and short-term effects of dietary cholesterol and fats in the Mongolian gerbil.

In long-term and short-term experiments with Mongolian gerbils the effects of various dietary fats and different amounts of cholesterol on progeniture and liver pathology were studied. In contrast to palm kernel oil, with 8.75% (w/w) of sunflower seed oil we observed fewer litters and a decreased survival of the sucklings. On 0.2% of cholesterol we observed severe hypercholesterolemia and storage of cholesterol ester in the liver, ultimately leading to cirrhosis. On 0.05% for 6 months the gerbils stayed in good health. Progeniture was unaffected on this level of intake.

Animals↗
PubMed1988

Effect of inhaled metaproterenol on exercise performance in patients with stable "fixed" airway obstruction.

We studied the effect of inhaled metaproterenol on exercise performance in ten patients with moderate to severe nonreversible chronic obstructive pulmonary disease (COPD), defined as a FEV1/FVC ratio below 60%, and less than 15% improvement in FEV1 and FVC after both one-time administration of inhaled metaproterenol and a 10-day therapeutic trial with oral theophylline, inhaled metaproterenol, and oral prednisone. After baseline evaluation, on two separate days all selected patients had spirometry and a self-paced 12-min treadmill walking test performed (in double-blind crossover fashion) before and after random administration of five puffs of inhaled metaproterenol or placebo. A few weeks later, testing was repeated single-blind before and after inhaled metaproterenol, but this time the 12-min walk was done in an enclosed hall. Pretreatment spirometry values were similar on all study days, and none of the subjects had a significant change (greater than 15% from baseline) in FEV1 or FVC after the administration of placebo or metaproterenol. The postmetaproterenol treadmill and hall walking distances improved by a mean (+/- SD) of 112 +/- 56 m (p less than 0.001) and 82 +/- 46 m (p less than 0.01), respectively. Individual improvements in exercise performance did not correlate with the corresponding changes in FEV1 or FVC, or with the baseline DLCO measurement. We conclude that an objective improvement in physical performance after administration of a relatively high dose of inhaled metaproterenol can be seen in some patients with moderate to severe "fixed" airway obstruction, despite a lack of significant response as judged by conventional spirometry criteria.

Administration, Inhalation↗
PubMed1988

Acute postbronchodilator changes in pulmonary function parameters in patients with chronic airways obstruction.

Pulmonary function studies were performed before and after one-time administration of an inhaled bronchodilator to ascertain the relative diagnostic value of using FVC, FEF25-75%, static lung volumes, Raw, and/or sGaw measurements, in addition to the FEV1, to assess the reversibility of chronic airways obstruction in nonasthmatic patients. A total of 517 patients underwent 686 spirometric tests, 264 (38 percent) of which disclosed a significant response to bronchodilators. In 247 (93 percent) studies, this response included a significant change in FEV1 and/or FEF25-75%, while in 17 studies (7 percent), the postbronchodilator improvement was seen exclusively in the FVC measurement. It is concluded that, in the clinical setting, analyzing static lung volumes, Raw, sGaw, and spirometric parameters other than the FEV1, seldom yields meaningful additional information regarding the reversibility of chronic airways obstruction in nonasthmatic patients. Finally, potentially misleading results can be seen in a relatively small proportion of studies due to errors in the FVC and/or FEF25-75% measurements.

Adolescent↗
PubMed1988

Molecular mechanisms of a t(8;14)(q24;q11) translocation juxtaposing c-myc and TcR-alpha genes in a T-cell leukaemia: involvement of a V alpha internal heptamer.

We have recently described a t(8;14)(q24;q11) translocation which appeared secondarily in a non-established acute T-cell leukaemia and involved the 3' region of c-myc proto-oncogene and the alpha chain of the T-cell receptor gene (TcR-alpha). In order to elucidate the mechanism of the translocation, we have isolated breakpoint regions from normal and recombinant chromosomes. Our results show that the translocation occurred at the 3' end of a V alpha segment in the proximity of recombination signal sequences (5'-heptamer-23bp spacer-nonamer-3'). Interestingly, an inverted heptamer internal to the V alpha segment was found at two nucleotides 5' of the break. Nucleotide sequence analysis also revealed the presence of homologous signal sequences on chromosome 8, suggesting that the recombination enzymatic system played an important role in the generation of the translocation. This hypothesis is supported by the addition of N nucleotides and the loss of only three nucleotides during the rejoining process. These data established the involvement of a V alpha segment and its recombination signals in the mechanisms of t(8;14) translocations in T-cell leukaemias.

Amino Acid Sequence↗
PubMed1988

Molecular cloning of a 5' segment of the genomic phl gene defines a new breakpoint cluster region (bcr2) in Philadelphia-positive acute leukemias.

Molecular rearrangements of Ph1 chromosome, the hallmark of CML, are clustered in a 5.8-kb DNA segment, the so-called breakpoint cluster region (bcr) of the phl gene that is localized to chromosome 22q11. In Ph1-positive (Ph1+) ALLs, the rearrangements have been shown to involve either the 5.8-kb bcr (called bcr+) or a region upstream of bcr in the 5' end of the phl gene (bcr-). To gain insight into the rearrangements occurring in Ph1+ acute leukemias, a 64-kb DNA fragment from the 5' end of phl was analyzed in order to generate molecular probes covering 40 kb of the phl gene first intron. A panel of seven cases of bcr-Ph1+ acute leukemia (three nonlymphocytic and four lymphocytic) was investigated with these intron 1-derived probes. Strikingly, in six of the seven leukemias, the breakpoints were located in a 10.8-kb DNA segment, defining a new bcr which appears to be specific for Ph1+ acute leukemias. By analogy with the CML bcr region located in the 3' part of the phl gene, we propose to designate this 10.8-kb fragment bcr2.

Chromosome Mapping↗
PubMed1988

Philadelphia-positive acute leukemia: lineage promiscuity and inconsistently rearranged breakpoint cluster region.

Six patients with Philadelphia-positive (Ph1+) acute nonlymphocytic leukemia (ANLL) were studied by morphological, immunological, cytogenetic, and molecular techniques. Seven Ph1+ acute lymphocytic leukemia (ALL) cases were also studied for comparison. Three of ANLL cases were classified in M1, M2, and M4 groups of the FAB nomenclature, while the three other cases do not fit with any FAB subgroup and are described as M0. Immunophenotypical marker studies, double immunolabeling, and combined immunological and cytogenetic studies of metaphases showed that these ANLL expressed several lineage differentiation antigens. Rearrangements of immunoglobulin heavy chain gene (C mu) were detected in the six ANLL cases and in the seven ALL cases studied, as well as, in most cases, rearrangement of T cell receptor beta chain genes and/or T cell rearranging gamma genes. The results favored the assumption that the Ph1 translocation originated from a multipotent stem cell in Ph1+ ANLL. A common t(9;22) translocation was found in all cases, and additional chromosomal abnormalities were present in the six ANLL cases and in five of the seven ALL cases. Molecular studies of bcr gene configuration and c-abl transcription allowed two groups of Ph1+ ANLL to be distinguished. Three cases had bcr rearrangement and c-abl mRNA expression comparable to those reported in Ph1+ chronic myeloid leukemia, while three others had not detectable bcr rearrangement and a 7.2-7.5 kb c-abl mRNA. The existence of Ph1+ ALL with and without classical bcr rearrangement was confirmed.

Adolescent↗
PubMed1988

[The value of chromosome anomalies in the prognosis of acute non-lymphoblastic leukemia in children].

Cytogenetic studies performed on 130 consecutive childhood acute non lymphoblastic leukemias (ANLL) and investigated in the same center between 1977 and 1986 have been studied for their prognostic value. Clonal chromosome changes were detected in 68.5% (89/130) of the cases prior to treatment. Complete remission rate and median survival were significantly lower in patients with only abnormal metaphases than in patients with only normal metaphases (NN) or a mixture of normal and abnormal mitoses (AN). The ANLL with translocation t(8;21), which were 58.6% of the M2 ANLL, were not associated with a particularly long survival (16 months) when compared with AN and NN ANLL. The longest survival (26 months) was observed in patients with acute myelomonocytic leukemia with bone marrow eosinophilia. Cytogenetic analysis have a prognostic value in childhood ANLL.

Adolescent↗
PubMed1987

A new medical approach to the treatment of osteoarthritis. Report of an open phase IV study with ademetionine (Gumbaral).

A non-controlled clinical phase IV trial was carried out involving 20,641 patients with osteoarthritis of the knee, the hip, and the spine and also with osteoarthritic polyarthritis of the fingers, who were treated with ademetionine tablets given in a fixed dosage schedule for eight weeks. No additional analgesic/antirheumatic treatment was allowed. Nevertheless, concomitant medication for other diseases was permissible. The efficacy was described as "very good" or "good" in 71 percent of cases, as "moderate" in 21 percent, and as "poor" in 9 percent of cases. The tolerance was assessed as very good or good in 87 percent, as moderate in 8 percent, and as poor in 5 percent of cases. The trial therapy was discontinued prematurely because of symptoms of intolerance in 5 percent of the patients and because of a lack of efficacy in 2.3 percent of cases.

Adult↗
PubMed1987

Age-related accumulation of phytanic acid in plasma from patients with the cerebro-hepato-renal (Zellweger) syndrome.

Plasma samples from several Zellweger patients were found to contain elevated phytanic acid levels. It was subsequently found that the level of phytanic acid in plasma from Zellweger patients depends upon the age of the patients at the time of sampling. In patients 17 weeks of age or younger, plasma phytanic acid levels were found to be normal, whereas in patients 40 weeks of age or older plasma phytanic acid levels were found to be elevated. The relationship between the age of the patients at sampling and the level of phytanic acid in the patients' plasma is probably the resultant of dietary intake of phytanic acid combined with a defective catabolism of this compound.

Age Factors↗
PubMed1987

[Congenital toxoplasmosis in Switzerland. Seroprevalence, risk factors and recommendations for prevention].

In 10,000 cord blood samples from the region of Basel (representing approximately equal to 42% of all live births of 1983 to 1985) anti-Toxoplasma antibodies were determined by agglutination and indirect immunofluorescence (IFA) tests. 47.3% were seronegative. 2.8% (n = 283) exhibited high titers in IFA (greater than 300 IU/ml) suggestive of acute or persistent infection. Questionnaires on potential risk factors were sent to 280 mothers with high antibody titers ("cases"), and to 279 randomised seronegative mothers (controls); 388 questionnaires (75.3%) were returned. Compared to controls, infections in cases were significantly associated with farm work, flower production, or food industry, consumption of lamb meat or improperly heated beefsteak, cat ownership. Risks of infection were significantly reduced when meat was kept in the deep freezer, or by consumption of chicken (probably as a surrogate for lamb and beef meat). Cases had significantly lower average serum concentrations of beta-carotene and tocopherol than controls, while average retinol and cholesterol levels were comparable in both groups. The 283 cord blood samples from the cases were subjected to 4 serological tests for specific IgM and 41 samples were reactive in greater than or equal to 1 test. 35 of the 41 children were reinvestigated greater than or equal to 6 months after delivery. In 8 children specific IgM persisted. Review of delivery charts confirmed that all 8 were asymptomatic at the time of delivery. Also on follow-up clinical examinations were normal. The incidence of congenital, latent toxoplasmosis in the area is thus estimated to nearly 1/1000 live births. These data will be used to promote preventive measures in pregnant women.

Antibodies↗
PubMed1987

Enhancement of Epstein-Barr virus membrane protein (LMP) expression by serum, TPA, or n-butyrate in latently infected Raji cells.

The BamHI Nhet region of the EBV DNA is known to code for two proteins. One is a membrane protein (LMP) with an apparent molecular weight of 60,000 on SDS-PAGE which is expressed in latently EBV infected cells. The second protein, so far unidentified, is presumably a late protein with a calculated molecular weight of 28,000 Da. Antisera against both proteins were generated by immunizing rabbits with either a fusion protein containing 155 amino acids of the C-terminus of LMP and a 37,000 mol wt piece of the bacterial anthranilate synthase or with a C-terminal synthetic peptide of 7 amino acids. These sera reacted with a protein varying in size between 60,000 and 65,000 mol wt on SDS-PAGE, found in all cell lines harboring EBV. In addition, these sera identified a second protein with an apparent molecular weight of 49,000 on SDS-PAGE in B95-8, P3HR-1, and M-ABA cells, which is presumably identical with the 28,000-Da protein mentioned above. Furthermore, with these sera a positive cytoplasmic immunofluorescence in 1 to 10% of the cells was obtained, depending on the cell line examined. Analyzing the nonproducer Raji cell line, the number of immunofluorescence-positive cells and the amount of the 60,000 protein, as judged by immunoblotting, was rapidly increased by addition of fresh medium with 10% fetal calf serum as well as by the tumor promoter TPA or to an even higher extend by n-butyrate. The kinetics of induction reached a maximum 24 hr after addition of medium plus 10% fresh serum or TPA or n-butyrate and decreased after 24 to 48 hr. Since the induction of the EBV early antigen (EA) associated proteins by TPA or n-butyrate exhibits a diverse kinetic with a maximum at 72 hr, the regulation of the 60,000 protein synthesis appears to be different from known EA-associated proteins.

Antigens, Viral↗