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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 649 records · Page 36Linked to original sources

Essential thrombocythemias. Clinical evolutionary and biological data.

This retrospective study reviewed 94 patients, aged 6 to 90 years, with thrombocythemia. The women/men ratio was 1.76. At onset or, less commonly, during the course of the disease, 45% of the patients presented hemorrhagic manifestations, 29% thrombotic complications, and only 14% the association of hemorrhage and thrombosis. The average platelet count was 1200 X 10(9)/1, with no difference according to sex or age. Platelet hypoaggregation was seen in practically all the cases (94%), although myelofibrosis was less frequent (54%). The frequency of hemorrhages increased when the platelet count was above 1000 X 10(9)/1 (P less than 0.01), but the occurrence of thrombosis was correlated neither with platelet count nor with thrombopathy. Survival time was lengthy: 80% of survival (standard error 6%) was observed at 100 months. Transformation to acute leukemia was observed in five patients. Because the disease course is most often prolonged, therapeutic measures must be conservative: anti-aggregating drugs in small doses, and chemotherapy beginning with nonalkylating agents.

Adolescent↗

Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method.

A capillary gas chromatographic method for the profiling of trimethylsilylated mono- and disaccharides and polyols in urine, plasma and unwashed and washed erythrocytes is described. The prepurification method is based on the moderate inhibition of the derivatization experienced in the presence of physiological amounts of inorganic salts and the relative stability of the formed trimethylsilylethers towards treatment with water and dilute hydrochloric acid. Series to series quality control data for 31 sugars/polyols in a pooled urine are given. The method was used to establish age-dependent concentrations of 18 sugars/polyols in urines of 72 control persons on a free diet. Gas chromatographic profiles and quantitative data obtained from urines of pediatric patients with galactosemia treated with a diet low in lactose and galactose, type 1 hereditary tyrosinemia treated with a diet low in phenylalanine and tyrosine, and a neurological disorder with a high calorie gastric drip feeding, are presented and discussed. Examples of the profiling of sugars/polyols in the plasma, unwashed and washed erythrocytes of a healthy adult, and the plasma of a newborn with galactosemia prior to treatment, are given.

Adolescent↗

AIDS guidelines.

The Sun article, "Employers finding that AIDS in the workplace is a managerial nightmare" (April 3), did not accurately portray the status of AIDS in the workplace. The AIDS virus, HTLV III, is transmitted by body fluids, primarily semen and blood, and there is no known risk of transmitting the virus by casual contact in the workplace. The Center for Disease Control (CDC) released guidelines for child care workers last August. Guidelines on preventing transmission of AIDS in the workplace were issued by CDC in November 1985. These guidelines specifically discussed health care, personal service, and food service workers. The recommendations were against routine screening. Furthermore, employment should not be restricted on the basis of a positive HTLV III antibody test. A person with HTLV III infection should be exempt from the workplace only if there are circumstances interfering with job performance. In Maryland, the Governor's Task Force on AIDS has gone on record as endorsing CDC guidelines related to employment. Furthermore, the task force condemns discrimination based on the disease AIDS, AIDS Related Complex (ARC), or HTLV III infection. Increasingly AIDS patients are being considered legally disabled and therefore are protected by federal and state laws prohibiting discrimination on the basis of a handicap. Marylanders who are subjected to mandatory HTLV III screening in the workplace, or if discriminated against on the basis of HTLV III inefction, should contact the Maryland Commission on Human Relations, the Maryland Department of Health and Mental Hygiene, or the Health Education Resource Organization (HERO). All 3 of these resources guarantee confidentiality. It is only by employees reporting incidents that a nightmare in the workplace can be avoided in Maryland.

Acquired Immunodeficiency Syndrome↗

[Significance of the determination of teichoic acid antibodies in the diagnosis of Staphylococcus aureus bacteremia].

Sera of 47 patients with serious Staphylococcus aureus infections, 55 patients with septicemias caused by other organisms and 147 healthy controls were examined for teichoic acid antibodies by ELISA, counterimmunoelectrophoresis (CIE) and immunodiffusion (ID). The specificity and the predictive value of positive results for metastatic-septic complications were 100% each for ELISA, 93%/88% for CIE and 87%/80% for ID. The low sensitivity with all three test methods of 50-60% relates to single sera. The indication for prolonged antibiotic treatment should therefore be derived only from the analysis of consecutive serum samples. With 12% of the controls above the cut-off, the ID test seems not a very good screening test.

Anti-Bacterial Agents↗

Abnormalities of the short arm of chromosome 12 in acute nonlymphocytic leukemia and dysmyelopoietic syndrome.

Abnormalities of the short arm of chromosome #12 (12p) were found in 18 patients, 7 with previously untreated acute nonlymphocytic leukemia (ANLL) and 11 with dysmyelopoietic syndromes (MDS) or ANLL following treatment for another malignant disease. The chromosome #12 abnormality was a partial deletion in 15 patients and a translocation in 3. The 12p- was the sole chromosomal abnormality in seven patients (four with de novo ANLL) and was associated with other chromosome abnormalities in eight patients. Thus, partial monosomy for 12p was often associated with other chromosomal changes and was a secondary abnormality in some cases. The consequences of this hemizygosity for genes located at 12p are discussed with references to the possible expression of a potentially mutated recessive gene. The study of c-K-ras 2, normally located at 12p, must be done in such cases, as the association of secondary blood disorders and multiple chromosome abnormalities suggests a possible mutation of this c-oncogene on chromosome #12.

Acute Disease↗

Partial lyonisation of steroid sulphatase gene in single hair roots.

Steroid sulphatase (STS) activity was measured in single hair roots from 9 patients with X-linked ichthyosis, 7 obligate heterozygotes, 12 male controls and 12 female controls. STS activity was deficient (less than 0.3 pmol dehydroepiandrosterone (DHEA) in 5 h per hair root) in the patients as compared to male controls (4.6 +/- 1.8 pmol DHEA in 5 h per hair root). All single hair roots from obligate heterozygotes showed STS activity (3.0 +/- 0.9 pmol DHEA in 5 h per hair root). Female controls had a significantly higher STS activity (6.0 +/- 1.8 pmol DHEA in 5 h per hair root) than male controls (p less than 0.05) and heterozygotes (p less than 0.001). Both the female-male sex ratio of control STS activity (1.3) and the absence of STS-deficient hair roots in heterozygotes confirm previous evidence for incomplete lyonisation of the X-linked steroid sulphatase gene.

Female↗

Reconstruction of alveolar width for orthodontic tooth movement: a case report.

A problem that has limited orthodontic treatment is lack of buccal-lingual alveolar width into which teeth can be moved. Causes may range from surgical obliteration to physiologic constriction after tooth removal. Lack of buccal-lingual alveolar width does not have to be an orthodontic limitation anymore. A technique used routinely to graft alveolar clefts can remedy this problem. Autogenous cancellous bone is placed subperiosteally on the buccal aspect of the constricted edentulous space. The flap is closed over the bone. The adjacent teeth may be orthodontically moved into the grafted edentulous area in approximately 6 weeks. Long-term follow-up has revealed excellent orthodontic stability, periodontal health, and dental vitality. A case report of one patient with loss of buccal-lingual alveolar space is presented. It is concluded that loss or lack of sufficient buccal-lingual alveolar width no longer must be an orthodontic limiting factor.

Adult↗

Persistence of müllerian ducts in male rabbits passively immunized against bovine anti-müllerian hormone during fetal life.

A female rabbit was immunized against purified bovine AMH and mated. Booster injections were given at Day 8 of pregnancy to ensure a high titer of anti-AMH antibodies at the time the rabbit fetal testis begins to produce AMH. In three consecutive litters, the immunized female produced a total of 12 males, 9 of which had persistent Müllerian duct derivatives. No other significant abnormalities were detected in these animals, which were compared to the offspring of a control saline-injected female. In particular, testicular morphology was normal in most animals, and serum FSH levels did not differ from controls. This experimental model lends no support to the hypothesis that AMH controls extra-Müllerian events of male sex differentiation, nor that of the existence of a regulatory mechanism for synthesis of AMH by Sertoli cells, but it does not definitely exclude these possibilities, inasmuch as our tentative conclusions are based upon study of only one immunized female.

Animals↗

Cytogenetic studies in four cases of alpha chain disease.

Cytogenetic studies were performed in four cases of alpha chain disease. Chromosomal abnormalities were found in the lymphoid cells of the mesenteric lymph nodes of three patients, two of whom had not reached the stage of overt malignant lymphoma. In two instances, a rearrangement of 14q32, resulting from a t(9;14)(p11;q32) and a t(2;14)(p12;q32) was observed. One case showed complex rearrangements including t(5;9). No abnormalities were found in the intestinal tumor of the fourth case with immunoblastic lymphoma. It is concluded that alpha chain disease is a clonal proliferation with frequent alteration of chromosome #14 at band q32 resulting from translocations that differ from those observed in the vast majority of other non-Hodgkin lymphomas.

Chromosome Aberrations↗

Complex chromosomal abnormalities in acute nonlymphocytic leukemia.

A comparison of chromosome abnormalities between 31 cases of de novo acute nonlymphocytic leukemia (ANLL) with complex karyotypes and 30 cases of secondary ANLL or dysmyelopoietic syndromes (DMS) revealed significant differences. Hyperdiploidy and partial or complete monosomy 5 were more frequent in complex de novo ANLL, whereas, hypo or pseudodiploidy and partial or complete monosomy of chromosome #7 were more frequent in secondary ANLL/DMS. Monosomy 17 and partial deletion of the short arm of chromosome #12 (12p-) occurred more commonly in de novo ANLL and secondary ANLL/DMS, respectively, but were not statistically significant. Therefore, although the abnormalities found in the two groups were of the same basic type, the frequencies of occurrence differed. These findings suggest the role of as yet unknown agents in the etiology of some so called de novo ANLL, and that different mutagenic or carcinogenic agents may produce different chromosomal abnormalities.

Acute Disease↗

Intranasal interferon (rIFN-alpha A, Ro 22-8181) for contact prophylaxis against common cold: a randomized, double-blind and placebo-controlled field study.

The prophylactic efficacy of low-dose intranasal recombinant leucocyte interferon alpha (rIFN-alpha A, Ro 22-8181) was investigated under field conditions in 147 families (n = 587 participants), randomized to receive placebo or rIFN-alpha A intranasally in daily doses of 1.5 or 0.3 X 10(6) IU. Treatment was started within 2 days after the appearance of an index case in the household and was continued for 5 days. Clinical data of the index case and of all members of the household were recorded for 10 days. In index cases and all ill contact persons nasal washes were collected for rhinovirus isolation and immunochemical detection of other respiratory viruses. The local tolerance of the intranasal rIFN-alpha A was excellent. Both doses of rIFN-alpha A failed to exert therapeutic effects on established common cold or to prevent the spread of common cold within families. Prophylactic treatment with 1.5 X 10(6) IU did however shorten the duration of the cold (median of 2 days vs. 4 in the placebo group, P = 0.01) and reduced the severity of any ensuing common cold (median total score of 10.5 vs. 30, P less than 0.001). No correlation was found between viral etiology (55% rhinoviruses vs. 13% other respiratory viruses, n = 122 nasal washes) and prophylactic efficacy or clinical severity.

Administration, Intranasal↗

Preparation of [99mTc(DMPE)2Cl2]+ for myocardial imaging by using Fe-(DMPE) complexes.

The preparation of [99mTc(1,2-bis(dimethylphosphino)ethane)2Cl2]+ ([99mTc(DMPE)2Cl2]+) for imaging the myocardium is investigated. Starting from Fe(III)- or Fe(II)-DMPE and 99mTcO4- different preparation variants are compared. In these reactions either ascorbic acid or DTPA serves as an agent for complexing iron. A simple procedure using lyophilized initial components is represented. Its application yields [99mTc(DMPE)2Cl2]+ with a radiochemical purity of more than 95%. Organ distribution studies performed in rats emphasize the high myocardial accumulation of this preparation.

Animals↗

The human type II collagen gene (COL2A1) assigned to 12q14.3.

A cosmid clone containing the entire human type II alpha 1 collagen gene (COL2A1) was used as probe in the Southern analysis of DNA from a panel of human/hamster somatic cell hybrids containing different portions of human chromosome 12. Two of the hybrids exhibited a similar terminal deletion q14.3----qter, but one was positive for the gene while the other was negative. Therefore, the gene must reside in the region q14.3.

Animals↗

Chromosome analysis of rat tumor cell lines associated with metastatic potential and drug resistance.

Seven rat rhabdomyosarcoma cell lines, 9-4/0, F6, F8, F13, F21, R3 and R9, were cytogenetically investigated. They differed in their metastatic, tumorigenic and growth potential, and in resistance to chlorozotocin (CZT = 2,3-[2-chloroethyl]-3-nitrosoureido-beta-D-glucopyranose). No strict correlation between phenotypic features and chromosomal aberrations existed; however, rearrangements specific for each line were found. Twenty-one chromosome markers, present in a minimum of 20% of cells of a line, were observed. Chromosomes 3, 7, 10, 11 and 13, were those most often involved in marker formation. Two CZT-resistant lines, R3 and R9, showed no common aberration, but R9 which was most resistant, was shown to have a homogeneously staining region, which is usually thought to be the site of gene amplification.

Animals↗

Phenotype of early erythroblastic leukemias.

Nine cases of early erythroblastic leukemia, unidentified by usual criteria, have been diagnosed using a panel of antibodies. Three cases arose in patients with Down's syndrome, one in a patient with therapy-related leukemia, and four patients were in blast crisis of chronic myeloid leukemia; only one case arose de novo. Blast cells could be assigned to two main stages of erythroid differentiation: presence of all erythroid-specific proteins in two patients, a phenotype corresponding to an immature erythroblast; absence of the erythroid markers such as glycophorin A and spectrin in the presence of carbonic anhydrase isoenzyme I, ABH group antigens, and the antigen defined by FA6 152 monoclonal antibody in six patients, a phenotype related to a late erythroid progenitor (CFU-E). One patient had an intermediate phenotype. All patients except one demonstrated a megakaryocytic component. In three patients, chromosomal abnormalities were present, detected both in blasts and in erythroid colonies. In conclusion, these findings indicate that most "cryptic erythroleukemias" are blocked at a "CFU-E-like" stage of differentiation, it may be a frequent event in Down's syndrome and chronic myeloid leukemia, and these erythroleukemias are phenotypically heterogeneous.

Acetylcholinesterase↗

Evaluation of a combined measles-mumps-rubella-chickenpox vaccine.

There was neither a difference in the (low) percentage of only harmless side-reactions nor in the rate of sero-conversions (between 95-100%), when groups of 15 to 24 months old children were vaccinated either with the single components or with a combined MMR + Chickenpox-vaccine of a high potency.

Antibodies, Viral↗

[Translocation t(1; 14) and rearrangement of the gene for the alpha chain of the T-cell receptor in acute T-lymphoblastic leukemia].

A t(1; 14) (p32; q11) translocation has been found by the cytogenetic study of a T cell acute lymphoblastic leukemia patient. Molecular hybridization with a probe (D14S7) which recognizes a fragment of the alpha chain T receptor gene has shown a rearranged EcoRI 11.0 kb band in addition to the germline 3 and 8 kb bands. This translocation infrequently described until now is a new example of an alpha chain gene rearrangement in T cell malignancy. Moreover the breakpoint on chromosome 1 may also involve the newly isolated protooncogene, L-myc, normally localized on the chromosomal band 1 p32.

Adolescent↗