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Biomedical subjects

R Baumann

Publications and source records attributed to R Baumann.

At least 127 records · Page 7Linked to original sources
PubMed1990

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

Tuberous sclerosis (TSC) is a dominantly inherited disorder characterized by hamartomas and hamartias in one or more organs, most often in skin, brain, and kidneys. Analysis of the basic genetic defect in tuberous sclerosis would be greatly expedited by definitive determination of the chromosomal location of the TSC gene or genes. We have carried out genetic linkage studies in 15 TSC families, using 34 polymorphic markers including protein markers and DNA markers. Pairwise lod scores were calculated using LIPED, and multipoint analyses were carried out using MENDEL. In the pairwise linkage analysis, using a penetrance value of 90%, a significant positive lod score was obtained with MCT128.1 (D11S144), 11q22-11q23, Zmax 3.26 at theta = 0.08. The tyrosinase probe TYR (11q14-11q22) gave a maximum lod score of 2.88 at theta = 0. In the multipoint analyses the most likely order is (TYR,TSC)-MCT128.1-HHH172. Homogeneity analysis was carried out using the USERM9 subprogram of MENDEL, which conducts the admixture test of C. Smith (1963, Ann. Hum. Genet. 27: 175-182). This test provided no evidence for genetic heterogeneity (that is, non-11-linked families) in this data set.

Alleles↗
PubMed1990

[Arterial thrombotic complications in Crohn's disease].

In a series of 230 observations of Crohn's disease, the authors describe 4 cases of arterial thrombosis; two of them involving cerebral arteries. These complications occurred in young women without any notable risk factor for atheroma. All patients had highly active Crohn's disease when arterial thrombosis occurred: two of them had several episodes of thrombosis and three, extraintestinal manifestations. As the arterial thromboses are often severe, rarely foreseeable and the venous thromboses frequent, the point is whether to use anticoagulants. When Crohn's disease is highly active, but only if there are no hemorrhagic lesions, anticoagulants at prophylactic doses may be recommended. How to define more exactly a high risk thromboses population deserves further investigation.

Adult↗
PubMed1990

[Socioprofessional consequences of Crohn disease].

To evaluate evolutivity and social repercussions of Crohn's disease, the same gastroenterologist interviewed 151 out of 197 patients with Crohn's disease (77.5 percent) who had been hospitalized from 1964 to 1986 in our unit. The other 46 could not be traced or refused to participate. There was no difference regarding age, sex, duration of illness, pattern of lesions and operations between the two groups. At the time of observation, mean follow-up was 7.8 years and two thirds of the patients had inactive disease. During the previous year, the course of the disease was quiescent in 50 percent of all patients; this rate increased with duration of follow-up and time from surgery. A constant rate of stable course was observed (20 percent) irrespective of duration of disease and time of surgery. The interviews were compared with those obtained from an age and sex-matched group of 70 previously healthy subjects admitted to the hospital for less than one month. The education and socioeconomic levels were higher in patients with Crohn's disease than in controls, in spite of the fact that 25 percent of patients whose disease begun during scholarship complained of difficulties at school, and nearly 20 percent of all patients were partially or totally unable to work. Sports and cultural activities were the same in Crohn's disease and in the control group. Tobacco intake was slightly higher at time of diagnosis but it was equal in both groups at the time of the interview. Non allopathic advice or treatment were sought by 48 percent of Crohn's disease patients (7 percent in controls).(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

[Mononuclear cell activation in Crohn's disease. Evaluation using serum assay of neopterin and interleukin-2 soluble receptors].

To determine the degree of mononuclear blood cell activation in Crohn's disease (CD), 65 patients were prospectively investigated (22 with mild, 26 with moderate and 17 with severe disease). Serum levels of soluble receptors for interleukin-2 (SR-IL-2) were measured by ELISA. In CD patients SR-IL-2 levels were significantly higher (m = 707 +/- 326 U/ml) than in three other groups: 70 controls (m = 258 +/- 87 U/ml, p less than 0.0001); 8 patients with acute infectious colitis (m = 405 +/- 216 U/ml, p less than 0.0001); 101 HIV seropositive subjects (m = 564 +/- 216 U/ml, p less than 0.002). There was a positive correlation between SR-IL-2 level and the Van Hees activity index (r = 0.595, p less than 0.0001). On the other hand, the numbers of activated T cells (CD 3+, HLA DR+), CD 4+, CD 8+ and NK cells did not differ according to the CD activity groups. Furthermore, CD patients treated with steroids (n = 39) did not differ from those without any medication. As a marker of monocyte activation, serum neopterin level was determined by RIA. All CD patients considered as a group, serum neopterin level was 2.89 +/- 1.44 ng/l (n less than 2.5 ng/l). Neopterin level increased with disease activity (1.97 +/- 0.92 vs 3.10 +/- 1.46 vs 3.74 +/- 1.36, p less than 0.01), and was positively correlated with SR-IL-2 (r = 0.609, p less than 0.0001). These results suggest a monocyte-macrophage activation in CD, which parallels disease activity.(ABSTRACT TRUNCATED AT 250 WORDS)

Acute Disease↗
PubMed1989

[Endosonography in early pregnancy].

Vaginal sonography has brought tremendous advantages in the diagnosis of early pregnancy both for the patient and the physician. In the first place it is easier to perform than abdominal sonography, since a filled bladder is not a prerequisite for the examination. Secondly, the intrauterine location of the pregnancy can be diagnosed as early as the 37th day of gestation. Thirdly, diagnosis of a disturbed intrauterine or an extrauterine pregnancy is possible earlier than with the abdominal approach. Vaginal sonography thus frequently reduces the period of anxious waiting for the patient and, where necessary, enables the physician to operate early with the least possible traumatization.

Adult↗
PubMed1989

Managing gynaecological emergencies with laparoscopy.

A consecutive series of 49 women (50 procedures), whose conditions were haemodynamically stable, presenting with acute lower abdominal pain, pelvic tenderness, and either a urine concentration of greater than 50 U/l beta human chorionic gonadotrophin or a pelvic mass shown by ultrasonography were treated with operative laparoscopy under video monitoring (videopelviscopy) as an alternative to laparotomy. Ectopic pregnancy, ovarian and non-ovarian cysts, pelvic adhesions, endometriosis, and fibroids were found, for which salpingotomy, salpingectomy and salpingo-oophorectomy, cystectomy, adhesiolysis, thermocoagulation, and myomectomy were carried out by laparoscopy. In one patient pelviscopy was repeated because of persistent tubal pregnancy after the fimbria was expressed. Laparotomies were carried out on three patients because treatment was not possible by laparoscopy and on a further patient two days after adhesiolysis had been attempted. These were the only serious complications. For the 46 cases (45 patients) in which operative laparoscopy was successful the mean stay in hospital was 1.9 days after operation, and this group of patients returned to normal activities and to work after an average of 2.3 and 2.6 weeks respectively. Most gynaecological emergencies that are managed by laparotomy can be treated by laparoscopy and benefit both patients and the health service.

Adult↗
PubMed1989

Transcervical resection of endometrium in women with menorrhagia.

As an alternative to hysterectomy 16 women with menorrhagia were treated with hysteroscopic transcervical resection of the endometrium with an unmodified urological resectoscope. Twelve patients requested total resection of the endometrial lining with the intention of producing amenorrhoea, and four chose partial resection and hypomenorrhoea. Surgery was completed successfully in 15; the remaining woman, who had an acutely retroflexed uterus, sustained a uterine perforation during insertion of the rigid hysteroscope. There were no important postoperative complications, and 13 patients were discharged from hospital the day after operation. Follow up for up to six months showed beneficial effects on the duration of menses and the subjective assessment of menstrual blood loss and pain in the treated women, six of them becoming amenorrhoeic after total resection. Hysteroscopy at three months in 13 patients showed fibrosis confined to the upper half of the uterine cavity. Endouterine biopsy specimens showed the presence of microscopic deposits of normal endometrium in 10 women. Although these results are preliminary, transcervical resection of the endometrium may have an important role in managing this common complaint.

Adult↗
PubMed1989

Is there an increased incidence of adenomatous polyps in breast cancer patients?

Using flexible proctosigmoidoscopy, the incidence of adenomatous polyps was studied in 161 patients previously operated on for breast cancer and also in 147 hospitalized controls not presenting with colorectal symptoms. The acceptance and tolerance of the examination were good in both populations. The mean age and length of the colons explored were not statistically different for the two groups. The incidence of adenomas was high in the breast cancer group (14.2%) in comparison to the control group (4.7%) (P less than 0.01). This strong incidence especially concerned very small polyps with a diameter smaller than 3 mm. There were also two polyps with superficial carcinomas in the breast cancer group. Breast cancer does indeed seem to represent a condition with a high risk of colorectal adenomas. Our results prompt us to propose the adoption of systematic screening measures and a surveillance schedule as soon as the breast cancer is found.

Adenoma↗
PubMed1989

[Monoclonal anti-AFP immunoscintigraphy of human hepatocellular carcinoma. Influence of biological, anatomical and vascular factors].

The actual interest of immunoscintigraphy for the detection of alphafetoprotein-producing liver tumors was investigated by both visual examination and quantitative analysis in 61 patients with either hepatocellular carcinoma (39 patients, group I), secondary liver cancer (11 patients, group II), or non tumoral liver (9 cirrhosis, 2 healthy liver, group III): All patients received injections of 123I-anti-alphafoetoprotein monoclonal antibodies and planar scans were performed after 28 hours. Only 18 out of 39 hepatocellular carcinoma-bearing patients had a positive scan (46 p. 100). Such a moderate sensibility was due to a striking inhibitory influence of cirrhosis: the positivity rate was 6/24 and 12/15 respectively when hepatocellular carcinoma was and was not associated with cirrhosis (p less than 0.01). Specificity was also moderate (55 p. 100) for detection of hepatocellular carcinoma in tumor-bearing patients (group I and II). In the absence of cirrhosis, the intensity of the tumoral uptake was highly correlated with high serum alphafoetoprotein level (p less than 0.001) and tumor arterial hypervascularization (p less than 0.01). Anti-alphafoetoprotein monoclonal antibody uptake by the extratumoral liver was found to be very specific of hepatocellular carcinoma since it was high in 23 out of 39 patients of group I but in only 1 out of 22 in groups II and III (p less than 0.01).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1989

Measurement of pH in blood vessels and interstitium of 4 and 6 days-old chick embryos.

The pH in intra- and extraembryonic blood vessels and in the embryonic interstitium has been measured in 4 and 6 days-old chick embryos using pH microelectrodes. The mean pH of the lateral vitelline vein was 8.0 at day 4 and 7.89 at day 6 and that of the vitelline artery 7.8 and 7.66, respectively. The pH of the blood in the embryonic heart was the same at day 4 and 6 (7.68 and 7.67). The lowest blood pH was recorded in the jugular vein (7.42 at day 6). The pH values measured in the interstitium show less variability. However a clear cranio-caudal gradient was apparent at day 4 where pH fell from 7.68 to 7.47. At day 6 the pH values of the interstitium ranged between 7.61 and 7.52 showing no preferential distribution. Using previously determined values for blood PO2 and the oxygen haemoglobin equilibrium curves, we calculated the oxygen saturation of the blood at the measured pH. In the vitelline vein the O2 saturation is 89% at day 4 and more than 95% at day 6, whereas that of the vitelline artery is 37% and 25%, respectively. When ambient PCO2 is raised to about 8 torr the pH falls to 7.81 (7.68) in the vitelline vein at day 4 (6) and the oxygen saturation decreases to 64% and 79%, respectively. Thus the high pH values found in the vitelline vein seem to be necessary for adequate oxygen uptake of the embryo.

Acid-Base Equilibrium↗
PubMed1989

[Cytogenetic, endocrinological and immunological studies of tissue cultures from ectopic pregnancies].

The world-wide increase in extrauterine pregnancies induced us to grow trophoblastic elements obtained from ectopic locations in tissue cultures in order to determine whether the tubal implantation of the blastocyst could be caused by chromosomal aberrations. In addition, we investigated for what period of time trophoblastic tissue from ectopic sites is capable of producing HCG in culture. This was done in view of an eventual use of this method as a model for the testing of the effect of antitrophoblastic agents in vitro. Finally, the concentration of several tumor markers in the culture medium was measured. The karyotype could be determined in 16 out of 20 tissue specimen subjected to tissue culture; in one case a chromosomal aberration was recognized, two times there was evidence of increased fragility of the chromosomes. The ratio of female to male karyotypes was 10 to 6. HCG was found to be produced for 6 to 9 days in the tissue cultures. The concentration of the tumor markers CEA, CA 19-9, CA 12-5 and CA 15-3 in the culture medium was low as compared to cultures containing additional tubal mucosa. We are concluding that chromosomal aberrations do not seem to play a causal role in the genesis of EUP. The assay of HCG production by trophoblastic cells in tissue cultures could eventually be used for the testing of agents which might ultimately be employed for the non-surgical treatment of certain cases of EUP.

Biomarkers, Tumor↗
PubMed1989

[Hepatobiliary actinomycosis. Apropos of 3 cases with pseudocancerous aspects].

Three cases of hepatobiliary actinomycosis are reported. In all cases, carcinoma was initially suspected. One patient underwent cytoaspiration under sonographic guidance. Diagnosis was obtained by autopsy in one case, laparotomy and biopsy in the other cases. Confusion with cancer is frequent in actinomycosis, especially in hepatic lesions.

Actinomycosis↗
PubMed1989

[Enteroclysis in malabsorption syndrome in adults. Apropos of 73 cases].

We retrospectively analyzed the small bowel radiographies, performed by enteroclysis in 73 patients presenting a malabsorption disease. The etiology are: celiac disease (44 cases), abetalipoprotidemia (2 cases), Whipple's disease (7 cases), mastocytosis (1 case), amyloidosis (1 case), ischemia enteritis (4 cases), radiation injury (4 cases), lymphangiectasia (4 cases), Crohn's disease (4 cases) and NH lymphoma (2 cases). With enteroclysis, the radiological diagnosis of malabsorption disease is improved and it is able to differentiate malabsorption diseases based on radiological features: increased or decreased number of folds (celiac disease, mastocytosis, abetalipoprotidemia), nodularity of folds (Whipple's disease) and wall thickness (amyloidosis, lymphangiectasia, ischemic enteritis and radiation injury). It is no possible to differentiate NH lymphoma from Crohn's disease.

Adult↗