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Biomedical subjects

R Berger

Publications and source records attributed to R Berger.

At least 1,027 records · Page 57Linked to original sources
PubMedDate not supplied

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

Single-strand conformational analysis was used to screen for genetic defects in all thirteen exons of the phenylalanine hydroxylase gene (PAH) in phenylketonuria and hyperphenylalaninemia patients in the Netherlands. Exons that showed a bandshift were sequenced directly. In this way, we were able to identify 93% of the PAH mutations in a panel of 34 patients. Twenty-one different mutations were found: 4 of these gene aberrations are novel.

Amino Acid Metabolism, Inborn Errors↗
PubMedDate not supplied

Attitudes of diabetic men after implantation of a semi-rigid penile prosthesis.

Erectile impotence is a common and distressing problem in diabetic men. In order to examine the impact of a penile prosthesis on the quality of life of the recipients, we mailed a questionnaire to all patients (N = 49) who received a semi-rigid (Small-Carrion) prosthesis at the Seattle VAMC from 1976 to 1981. Fourteen patients with diabetes and 23 without diabetes returned the questionnaire. Direct comparisons showed no statistically significant differences between the responses of the two groups. Based on a scale of 1-7 (1 = worst, 4 = no change, 7 = best), the general effect of the operation on the quality of life of the recipients was 5.7 +/- 0.3 (Mean +/- SEM); the quality of intercourse was 5.1 +/- 0.3; the patient's perception of his partner's response to the prosthesis was 5.2 +/- 0.3; and the patient's perception of postoperative changes in his relationship with his partner was 5.6 +/- 0.3. Eighty-three percent of the patients were satisfied with the performance of the prosthesis. Most of the patients (86%) felt that their preoperative expectations had been fulfilled and would elect to have the procedure if they had it to do over again. However, five patients (14%) stated that they would not elect the operation again because their partners did not appreciate the operation (N = 2); the operation produced severe, prolonged pain (N = 1); or the patient's expectations had not been fulfilled (N = 2). Preoperative counseling should be used to foster realistic patient and partner expectations. This operation, which appears to improve the quality of life for most diabetic patients with erectile impotence, should be considered a part of standard care and not as a cosmetic procedure or extraordinary care.

Coitus↗
PubMedDate not supplied

Endotoxemia severely affects circulation during normoxia and asphyxia in immature fetal sheep.

OBJECTIVE: The purpose of the present study was to determine whether endotoxins (lipopolysaccharides, LPS) affect the fetal cardiovascular system in a way likely to cause brain damage. METHODS: Thirteen fetal sheep were chronically instrumented at a mean gestational age of 107 +/- 1 days. After control measurements of organ blood flow (microsphere method), blood gases, and acid base balance were obtained, seven of 13 fetuses received LPS (53 +/- 3 microg/kg fetal weight) intravenously. Sixty minutes later, asphyxia was induced by occlusion of the maternal aorta for 2 minutes. Measurements of organ blood flows were made at -60, -1, +2, +4, +30, and +60 minutes. RESULTS: Unlike in the control group, after LPS infusion there was a significant decrease in arterial oxygen saturation (-46%; P <.001) and pH (P <.001). In LPS-treated fetuses the portion of combined ventricular output directed to the placenta decreased significantly (-76%; P <.001), whereas output to the fetal body (+60%; P <.001), heart (+167%; P <.05), and adrenals (+229%; P <.01) increased. Furthermore, during asphyxia circulatory centralization was impaired considerably in LPS-treated fetuses, and there was clear evidence of circulatory decentralization. This decentralization caused a severe decrease in cerebral oxygen delivery by 70%. Within 30 minutes after induction of asphyxia five of seven LPS-treated fetuses died, whereas all control fetuses recovered completely. CONCLUSIONS: Endotoxemia severely impaired fetal cardiovascular control during normoxia and asphyxia, resulting in a considerable decrease in cerebral oxygen delivery. These effects might have important effects in the development of fetal brain damage associated with intrauterine infection.

Animals↗
PubMedDate not supplied

Circulatory responses to acute asphyxia are not affected by the glutamate antagonist lubeluzole in fetal sheep near term.

OBJECTIVE: Asphyxia is one of the main causes of perinatal brain damage that can result in psychomotor deficits during later development. Recently lubeluzole, a new glutamate antagonist, was shown to improve clinical outcome considerably without any safety concerns in adults who had acute ischemic stroke. However, our preliminary experiments showed transient alterations in heart rate as well as arterial hypertension after intravenous application of this compound in fetal sheep. The aim of the present study was to examine in detail whether lubeluzole affects circulatory responses to acute asphyxia in fetal sheep near term. METHODS: Eleven fetal sheep were chronically instrumented at a mean gestational age of 133 +/- 2 days (term is at 147 days). The fetuses in the study group (n = 6) received three bolus injections of lubeluzole at 30-minute intervals (3 x 0.11 mg/kg estimated body weight), and five controls received solvent. Organ blood flows and physiologic variables were measured before, during, and after arrest of uterine blood flow for 2 minutes (ie, at 0, 1, 2, 3, 4, and 30 minutes). RESULTS: Before asphyxia, distribution of combined ventricular output and physiologic variables in fetuses from the control group were in the normal range for chronically prepared fetal sheep near term. During acute asphyxia there was a redistribution of cardiac output toward the central organs accompanied by pronounced bradycardia and progressive increase in arterial blood pressure. There were nearly no differences between groups in the time course of physiologic and cardiovascular variables measured before, during, and after acute intrauterine asphyxia. CONCLUSION: Lubeluzole did not affect circulatory responses to acute asphyxia in fetal sheep near term.

Animals↗
PubMedDate not supplied

[Cytogenetic studies in four cases of Fanconi's anemia (author's transl)].

In two sibships, four patients with Fanconi's anaemia were studied cytogenetically. Interfamilial variations of the frequency of chromosome breakage and rearrangements were found, suggesting the heterogeneity of the disease. Variations of chromosomal abnormalities have also been found during the course of the disease. An abnormal 47 chromosomes clone has been observed in the bone marrow cells from one patient. A mechanism of somatic segregation is probably involved in the constitution of that clone.

Abnormalities, Multiple↗
PubMedDate not supplied

[Homozygosity and atypical myeloproliferative syndrome (author's transl)].

An abnormal clone with four chromosomal rearrangements was found in the bone marrow of a patient with an atypical myeloproliferative syndrome and with an almost exclusive polymorphonuclear hyperplasia in blood: t (4;12), i(17 q),20q--. An heterozygosity for a normal variant of one chromosome No. 3 was observed in blood cell cultures. In bone marrow however both chromosomes No. 3 had the same Q-banding patterns. A mechanism of somatic segregation may explain this partial homozygosity.

Bone Marrow↗
PubMedDate not supplied

Steroid hormone receptors and tumorigenicity of sublines from breast tumor metastatic MDA-MB 231 cell line.

Ten cell sublines the MDA-MB 231 human breast cell line were analyzed for their phenotypic diversity: morphology, karyotype, growth rate, clonogenicity in semisolid medium, tumorigenicity in nude mice, number and affinity of nuclear receptors for oestradiol, progesterone and glucocorticoids. Karyotypic analysis showed different aneuploidies from 50 to 120 chromosomes and variable chromosomal rearrangements in the analyzed subclones. All except two of the ten subclones were tumorigenic when injected subcutaneously or intraperitoneally into nude mice. Although the parental cell line has no receptor, all except two of the tested subclones contained various amounts of high affinity oestradiol and progesterone receptors ranging from 3,000 to 33,000 per cell. Seven subclones contained either high affinity oestradiol or progesterone receptors in nuclei. The diversity found in different subclones derived from one breast carcinoma cell line might represent variabilities acquired and selected continuously in culture.

Aneuploidy↗