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Biomedical subjects

R Baumann

Publications and source records attributed to R Baumann.

At least 19 recordsLinked to original sources

Anatomical location defines distinct molecular subtypes of mucosal melanoma.

BACKGROUND: Mucosal melanoma (MM) is a rare and aggressive melanoma subtype that is understudied. The relationships between anatomical location, genomic alterations, stage at presentation, and survival remain incompletely characterized. METHODS: We carried out a retrospective single tertiary center study of 105 patients with histologically confirmed MM diagnosed between 1996 and 2025. Clinical and genomic data were analyzed to evaluate associations between anatomical location, mutational profile, stage at presentation, and survival outcomes, including melanoma-specific mortality. RESULTS: Lower-body tumors arising in the anus or genital areas were enriched for KIT and splicing factor 3 subunit B1 alterations, whereas NRAS mutations were distributed across anatomical regions. Among the two most common mutated genes, NRAS-mutant tumors were more likely than KIT-mutant tumors to present with metastatic disease [53% versus 19%; P = 0.046, odds ratio (OR) 4.7, 95% confidence interval (CI) 1.15-19.41]. Lower-body tumors were associated with worse overall survival (OS) than upper-body tumors (median 2.81 versus 8.40 years; OR = 0.05) and with higher melanoma-specific mortality. In multivariable analyses, upper-body location remained independently associated with improved OS (hazard ratio 0.14, 95% CI 0.05-0.36, P < 0.001). CONCLUSIONS: Anatomical location of MMs and genomic alterations define biologically and clinically distinct subtypes.

KIT mutation

[HIV-associated malignant lymphomas].

In a retrospective analysis of data from 35 cases with malignant lymphoma from a cohort of 2017 HIV-infected patients, the stage of HIV-disease, the CD4 counts at the time of diagnosis, and the use of antineoplastic agents or radiotherapy were correlated with outcome. 6 patients had Hodgkin's lymphoma (HL) and 29 non-Hodgkin-lymphoma (NHL). 11 of these lymphomas were classified according to the international working formulation (IWF) as high grade (H, I and J, respectively) and 8 as intermediate grade (G). 10 could not be classified. 22 patients with NHL had stage IV disease according to the Ann Arbor classification, all of whom had manifestations at extranodular sites. 23 patients with NHL were treated with multiagent chemotherapy (18 with m-BACOD or CHOP, 5 patients with various other regimens) and four of them had additional radiotherapy. One patient received radiotherapy only. Two of 24 treated patients showed complete and five a partial response. Median survival of patients without treatment (all of them in poor general condition at the time of diagnosis) was 1.8 months and treated patients survived a median of 5 months. The pretreatment CD4 count was the most important predictor of survival. Patients with prior Aids-diagnosis showed a tendency towards shorter survival. The observed remission rate indicates that HL in HIV-infected patients is better treatable than HIV-associated NHL. However, the overall outcome of HL in our patients was clearly less favorable compared to the course of HL usually seen in patients without HIV infection. The proportion of patients with HL among all patients with malignant lymphoma and HIV disease was unexpectedly larger in our cohort compared to others. Therefore, a possible association of HL and HIV infection, as addressed by several other authors, needs further clarification.

Adult

Intestinal carcinoid tumor and myotonic dystrophy. A new association?

The occurrence of multiple carcinoid tumors of the small bowel with liver metastases is reported in a patient with a previous myotonic dystrophy. In addition to the association of myotonic dystrophy with multiple endocrine adenomatosis type 2A, hyperparathyroidism, and neurofibromatosis, this case report gives further evidence for the propensity of such patients to develop neuroendocrine tumors.

Carcinoid Tumor

Trophoblast tissue culture of human intrauterine and ectopic pregnancies and treatment with methotrexate.

The application of drugs for conservative treatment of patients with ectopic pregnancy has been used worldwide for several years. In-vitro studies, however, are very few. We therefore examined the effects of methotrexate on trophoblast tissue cultures derived from intrauterine and ectopic pregnancies. Methotrexate was administered either 12 h or 6 days after initiation of the culture. Human chorionic gonadotrophin (HCG) levels were measured in the culture medium. All cultures showed secretion of HCG within the first 16 days. Methotrexate concentrations less than 3.8 x 10(-4) mol/l had no effect on HCG secretion. Cultures of ectopic pregnancies required a concentration about 10x higher to induce an equivalent reduction of HCG levels compared to intrauterine pregnancies. A few intrauterine and ectopic pregnancies showed no reduction of HCG values after treatment. These results suggest that data obtained from studies on intrauterine pregnancies may not be transferable to ectopic pregnancies in all instances. In some regimens approximately 8 days are required before the effect becomes measurable. In combination with our clinical data, we therefore recommend not to repeat a methotrexate dose too early in treatment of patients with ectopic pregnancies. The possibility that non-responding patients could exist should be kept in mind.

Chorionic Gonadotropin

[Analysis of frequency of DR3 allele in rapidly evolutive forms of Crohn disease in adults; comparison with the occurrence of this allele in slowly evolutive forms and in the normal population].

This communication reports 1. the frequency of the DR3 allele among 86 patients exhibiting various evolutive courses of Crohn's disease (CD), diagnosed in the same hospital in Alsace, France, hospitalized at least once between 1964 and 1986 and followed for at least 1 year, 2. the frequency of the DR3 allele among a control population in the same area: 126 volunteers donors of bone marrow. The definition of the evolutive course was similar to the one published by Binder et al.: slow course (including: intermittent: "occurrence of symptom-free period(s) of at least one month's duration excluding period where the patient was in steroid treatment"; and inactive: "completely free of bowel symptoms during the year") as opposed to continuous evolution: "without symptom-free periods". The DR3 allele determination was established by classical serologic analysis. 26 patients were found with the DR3 allele; 14 belonged to the slow course group, 12 to the continuous evolution group; 60 patients did not exhibit the DR3 allele: 50 in the slow course group, 10 in the continuous evolution group. chi 2 = 8.28; p = 0.004. Therefore the frequency of the DR3 allele was very significantly higher in the group with the continuous course (55%) than in the slow course group (22%). Similarly the frequency of the DR3 allele in the group with the continuous course (12/22: 55%) was significantly higher than in the group of control subjects (34/126: 28%) chi 2 = 6.64; p = 0.01.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

[Conservative treatment of esophageal perforations following pneumatic dilatation].

Over a 15-year period we have treated 50 patients with achalasia by pneumatic dilatation (61 dilatations). Perforation occurred in 5 patients, 2 of whom required surgery while the other 3 were successfully managed by conservative means. These 3 patients are reported on with reference to the indications and modalities of the medical treatment.

Adult

Combined treatment with zidovudine and lymphoblast interferon-alpha in patients with HIV-related Kaposi's sarcoma.

A combination of oral zidovudine (250 mg twice daily) and subcutaneous interferon-alpha (10 x 10(6) units daily) was evaluated for clinical, antiretroviral, and immunological efficacy and for side effects in 17 patients with AIDS-related Kaposi's sarcoma. Fifteen patients were evaluable. During the study period of 12 weeks, tumor responses were complete in two patients and partial in two patients (27% major response rate). Minimal responses were seen in two patients (40% overall response rate). An anti-HIV effect (reduction of serum p24 antigen by 70% or more) was observed in seven of ten evaluable patients who were initially antigenemic. CD4 lymphocyte counts remained unchanged. In six patients who had either a tumor response or a marked decline of HIV antigenemia, the treatment was continued between 12 and 59 weeks beyond the study period. Two of four patients with tumor regression at 12 weeks had an additional tumor response in this period despite prior dose reduction of interferon due to toxicity. Late progression of KS was eventually observed in four of six patients on prolonged treatment. The responsiveness of Kaposi's sarcoma seen in this study in patients with low CD4 counts and prior constitutional symptoms (fever, weight loss) was unexpected and needs further confirmation by larger patient groups. Dose-limiting toxicities were bone marrow depression (severe anemia in four and neutropenia with anemia in two patients), subjective adverse experiences (fever, fatigue, myalgia; four patients) and both (two patients).(ABSTRACT TRUNCATED AT 250 WORDS)

Administration, Oral

[Terminal constipation: priority for anorectal manometry].

Terminal constipation is a common ailment which may be readily suspected by appropriate questioning of the patient. Investigation is by function tests such as anorectal manometry and measurement of colonic transit time. The goal of this investigation was to explore the relative merits of these two methods in terminal constipation. Measurement of colonic transit time did not make it possible to distinguish terminal from other forms of constipation, whereas anorectal manometry allowed this distinction and, in cases of terminal constipation, provided information on the physiopathological mechanisms, thereby permitting appropriate anorectal reeducation by biofeedback. We conclude that, once an organic cause has been excluded by coloscopy, anorectal manometry is the investigation of choice in terminal constipation.

Adolescent

Experience with the first 250 endometrial resections for menorrhagia.

234 patients with menorrhagia were treated hysteroscopically by transcervical resection of the endometrium (TCRE) instead of hysterectomy. 250 procedures were performed under general anaesthesia (63%) or under sedation plus local anaesthesia (38%). The endometrium was excised either totally (91%) or partially (9%) in all but one case, and 56 (22%) of the patients underwent simultaneous resection of submucous fibroids. Surgical time (range 10-100 min) varied with the gynaecologist's experience. 479 ml was the average volume of uterine irrigant absorbed by the patient. Blood loss was usually slight. Operative complications were uncommon, but 4 (2%) women sustained a uterine perforation (without serious sequelae), 7 (3%) absorbed more than 2 litres of fluid, and 1 required tamponade to control postoperative bleeding. Hospital stay was short and full recovery usual by 1-2 weeks. Menstrual symptoms improved in over 90% of the patients throughout the follow-up of up to 2 1/2 years; 27-42% of the women became amenorrhoeic at some time after total TCRE. Results were best in women greater than 35 years of age, but was not influenced by the presence of fibroids or pretreatment dysmenorrhoea. 10 (4%) women later underwent hysterectomy. Hysteroscopy 3 and 12 months after surgery revealed a small, fibrotic uterine cavity in the majority.

Adolescent

Glucose-induced or postprandial hyperinsulinemia in mild essential hypertension--an underestimated biochemical risk indicator?

Even if glucose tolerance is normal, a glucose-stimulated or postprandial hyperinsulinemia can frequently be observed in patients with early stages and mild forms of essential hypertension. Numerous epidemiological, clinical and experimental data suggest that hyperinsulinemia might be an independent risk factor for atherosclerosis which should be paid more attention. It could be hypothesized that, apart from the haemodynamic phenomenon of high blood pressure, the postprandial hyperinsulinemia of patients with mild essential hypertension might be relevant to their cardiovascular risk.

Arteriosclerosis

Prospective comparison of videopelviscopy with laparotomy for ectopic pregnancy.

OBJECTIVE: To compare operative laparoscopy with laparotomy for the management of ectopic pregnancy in haemodynamically stable women. DESIGN: Non-randomized prospective cohort study, treatment allocation depending on the surgical preference and experience of the on-call medical team. SETTING: Provincial undergraduate teaching hospital. SUBJECTS: 87 consecutive and unselected haemodynamically stable women treated for ectopic pregnancy between 1 March 1988 and 31 August 1989. INTERVENTIONS: Salpingotomy, salpingectomy, salpingo-oophorectomy or simple extraction of the ectopic pregnancy depending on its site, size and nature performed under laparoscopic control or laparotomy. MAIN OUTCOME MEASURES: Operative outcome, duration of surgery, intra- and post-operative complications, post-operative hospital stay, return to normal domestic activities, return to work, changes in plasma beta-hCG concentrations, health and social service costs. RESULTS: 60 women were treated by videopelviscopy on 65 occasions and the other 27 were treated by laparotomy. The two groups were similar for age, parity and gestation at presentation. Of the 65 operative laparoscopies 61 (94%) were successful and all 27 laparotomies were completed uneventfully. Whereas the operating time was similar in the two groups, 55.3 and 51.1 min for videopelviscopy and laparotomy respectively, operative laparoscopy was associated with significantly shorter post-operative hospital stay (1.7 vs 5.2 days), faster return to domestic activities (1.5 vs 3.3 weeks) and work (2.5 vs 5.7 weeks) (P less than 0.001 for all). In economic terms, successful videopelviscopy was associated with a reduction in hospital accommodation costs by 69% (248 pounds vs 808 pounds), drug costs by 52% (8.38 pounds vs 17.57 pounds) and statutory sickness payment by 51% (130.25 pounds vs 266.51 pounds), that is an overall saving to the health and social services of 701.47 pounds or 50% per ectopic pregnancy (P less than 0.001). CONCLUSIONS: Operative laparoscopy can be used to successfully treat most cases of extrauterine pregnancy with advantages over laparoscopy in terms of reduced hospitalization, faster recovery and lower health service costs.

Cost-Benefit Analysis

Oxygen pressure-dependent control of carbonic anhydrase synthesis in chick embryonic erythrocytes.

During chick embryonic development carbonic anhydrase (CA) expression of erythrocytes is kept at a very low level until the last week of incubation (i.e., up to day 14). We have previously obtained evidence that hypoxia is the physiological stimulus for rapid onset of CA synthesis before hatching. Looking for putative signals we have carried out in vitro incubations of embryonic erythrocytes, screening a large number of hormones and second messengers, which were all ineffective, with the exception of the A1 agonist N6-phenylisopropyladenosine (adenosine had no effect). However, incubation with embryonic plasma (10%) from embryos greater than 6 days caused a 10-fold increase of the CA activity during 24 h. This increase was not observed when the incubation was carried out with the addition of actinomycin D, cycloheximide, aluminum fluoride, pertussis toxin, or heat-inactivated plasma. Mammalian plasma had no effect on CA activity. Filtration experiments show that the molecular mass of the factor is less than 2,000 Da. We conclude that embryonic plasma contains a heat-labile factor which stimulates CA synthesis via activation of transcription and whose receptor is coupled to a pertussis toxin-sensitive G protein. In vivo the action of the plasma factor is suppressed as long as blood Po2 is high, suggesting the presence of an inhibitor molecule whose synthesis is controlled by the Po2.

Animals

Sleep-disordered breathing in Möbius syndrome.

Möbius syndrome is a complex neurologic disorder characterized by congenital bilateral facial paralysis associated with lateral gaze paralysis. The syndrome has variable manifestations and several variants, some with somatic stigmata. In 1990, Möbius syndrome is conceptualized as a spectrum of clinical caudal brain-stem signs. Some deficits are manifested by laryngeal paralysis and aspiration. Sleep-disordered breathing syndromes have not been previously reported in association with Möbius syndrome. We report two children with Möbius syndrome and sleep-disordered breathing. Based on known pathologic findings and clinical manifestations, we believe that sleep-disordered breathing may be a common complication of Möbius syndrome and should be sought, since potential outcomes of such complications include serious morbidity.

Child

[Anorectal manometry and ileo-anal anastomosis].

Seventeen patients (12 ulcerative colitis, 5 familial adenomatous polyposis) underwent proctocolectomy and ileal J pouch anastomosis. Anal manometry with determination of maximum tolerable volume and a liquid continence test were perform before ileo-anal anastomosis, before closure of the loop ileostomy and 12 months after closure of the loop ileostomy. All patients were continent during the daytime less 12 months after proctocolectomy. The mean stool frequency was 5 stools per day in our 17 patients. A significant increase in maximum tolerable volume and in the liquid continence test was observed during the first year after closure of the ileostomy. Anal manometry is unnecessary after ileoanal anastomosis, but preoperatively, this test is able to exclude some patients with low anal pressure.

Adenomatous Polyposis Coli