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Biomedical subjects

S Neuenschwander

Publications and source records attributed to S Neuenschwander.

At least 19 recordsLinked to original sources

[Communication between radiologist and cancer patients].

Along with advances in medicine and social evolution, we are seeing an increase in the number of patients afflicted with cancer, and a change in the doctor-patient relationship. Patients' rights are now registered in the Hospitalised Patient's Charter, the Huriet Act and the Act of March 4, 2002. The evolution in cancer diseases is monitored by a range of imaging examinations, putting the radiologist in the front line. Lesions are typically first detected by the radiologist. This task is complicated by the fact that radiologists usually have no formal training with regards to the disclosure of cancer diagnoses to patients. There is a great risk of inappropriate responses which can have a profoundly damaging effect on the patient's state of mind. Even if we have the best of ideals and intentions, there is a great need for us to examine and improve our modes of interaction, in dealing with the patient's need for information. The radiologist possesses technical know-how, but technique alone is not enough - the right amount of information, based on clinical competence, is required; but so is empathy towards the patient, and respect for his or her wishes and rights.

Communication↗

[Improving overall patient care during imaging studies: the radiologist's CREDO and PERLES].

The protocols specifying the basic rules of the doctor-patient relationship that have been proposed in the literature are primarily intended for referring physicians, in particular oncologists. With regard to the improving radiologists' communication skills, a simple tool, RADPED, was developed to help residents in pediatric radiology to memorize the main points of the patient-radiologist interaction. We suggest a protocol, CREDO, more precisely appropriated to the everyday practice of medical imaging, in particular in oncology. This protocol relates not only to the radiologist-patient relationship, but also to the rules common to the department's entire team. The aims are to establish a partnership with the patient (for this purpose, we suggest using the PERLES model: partnership, excuses (apology), respect, legitimization, empathy, support), carrying out the examination under optimal conditions, listening to what the patient has to say, giving information and, above all, organizing the imaging department around the patient.

Clinical Protocols↗

Doctor-patient relationship in oncologic radiology.

Progress in medicine and changes in our society have led to an increasing number of patients with cancer and a change in the doctor-patient relationship. Patients rights are now defined in several countries by laws. The course of cancer involves numerous imaging examinations in which the radiologist is primarily involved. It is often the radiologist who discovers abnormalities and who must break the news to the patient. This task is made all the more difficult by the radiologist's lack of specific training in the management of difficult situations such as announcing bad news. There is a high risk of inappropriate responses that can have a seriously damaging effect on the patient's state of mind. Even with the best intentions, it can be very profitable to review and improve our relational modalities and to more effectively meet the patient's increasing demand for information. The radiologist's technical know-how is not sufficient, as he must also be able to give just the right amount of information based on his clinical competence, and his relationship with patients while respecting their wishes and their rights.

Humans↗

Standard-risk medulloblastoma treated by adjuvant chemotherapy followed by reduced-dose craniospinal radiation therapy: a French Society of Pediatric Oncology Study.

OBJECTIVE: The primary objective of this study was to decrease the late effects of prophylactic radiation without reducing survival in standard-risk childhood medulloblastoma. PATIENTS AND METHODS: Inclusion criteria were as follows: children between the ages of 3 and 18 years with total or subtotal tumor resection, no metastasis, and negative postoperative lumbar puncture CSF cytology. Two courses of eight drugs in 1 day followed by two courses of etoposide plus carboplatin (500 and 800 mg/m(2) per course, respectively) were administered after surgery. Radiation therapy had to begin 90 days after surgery. Delivered doses were 55 Gy to the posterior fossa and 25 Gy to the brain and spinal canal. RESULTS: Between November 1991 and June 1998, 136 patients (median age, 8 years; median follow-up, 6.5 years) were included. The overall survival rate and 5-year recurrence-free survival rate were 73.8% +/- 7.6% and 64.8% +/- 8.1%, respectively. Radiologic review showed that 4% of patients were wrongly included. Review of radiotherapy technical files demonstrated a correlation between the presence of a major protocol deviation and treatment failure. The 5-year recurrence-free survival rate of patients included in this study with all optimal quality controls of histology, radiology, and radiotherapy was 71.8% +/- 10.5%. In terms of sequelae, 31% of patients required growth hormone replacement therapy and 25% required special schooling. CONCLUSION: Reduced-dose craniospinal radiation therapy can be proposed in standard-risk medulloblastoma provided staging and radiation therapy are performed under optimal conditions.

Adolescent↗

Inheritance of the F4ab, F4ac and F4ad E. coli receptors in swine and examination of four candidate genes for F4acR.

Susceptibility to enterotoxigenic Escherichia coli with fimbriae F4ac is dominantly inherited in the pig. A three-generation pedigree was created to refine the position of F4acR on chromosome 13 comprising 202 pigs: eight parents, 18 F1 and 176 F2 pigs. The 17-point analysis indicates that F4acR lies between Sw207 and S0283. Recombinant offspring specify that the most probable order is Sw207-S0075-F4acR-Sw225-S0283. We observed six phenotypes for the three fimbrial variants F4ab, F4ac and F4ad. The two missing phenotypes F4abR-/F4acR+/F4adR+ and F4abR-/F4acR+/F4adR- indicate that pigs susceptible to F4ac are always susceptible to F4ab. Furthermore, a weak and a strong adhesion of F4ab and F4ad bacteria was observed. The weak receptor F4abR (F4abRw) was present only in pigs devoid of the receptor F4acR (F4abR+/F4acR-). In contrast, in pigs with the phenotype F4abR+/F4acR+, F4ab bacteria adhered to the majority of enterocytes. F4abRw constitutes a frequently observed phenotype whose inheritance is still unclear. Strong adhesion of F4ab and F4ac bacteria is most likely influenced by the same receptor that we name F4bcR. The number of F4ad bacteria that adhered to enterocytes was very variable in the adhesion test. Moreover, expression of F4adR was independent of age. Our segregation analyses indicated a dominant inheritance of F4adR, although the number of susceptible pigs was smaller than expected. We examined four genes as candidates for the F4acR locus: the transferrin receptor gene (TFRC) and three genes members of the glucosyl/galactosyltransferase family (B3GnT5, B3GALT3 and B4GALT4). Comparison of sequences from resistant and homozygous susceptible F4ac pigs did not reveal any causative single nucleotide polymorphism in the four genes. Two silent mutations at the positions 295 (C/T) and 313 (T/C) in B3GALT3 were found. Using the somatic cell hybrid panel, B3GnT5 and B3GALT3 were assigned to the chromosomal region SSC13q23-q41. No mutations were found in the cDNA sequences of these genes associated with the F4acR genotypes.

Animals↗

Identification and characterization of novel peroxisome proliferator-activated receptor-gamma (PPAR-gamma) transcriptional variants in pig and human.

The peroxisome proliferator-activated receptor-gamma (PPAR-gamma) is a member of the steroid/thyroid/retinoid receptor superfamily, and is primarily expressed in fat tissue. To date, two major PPAR-gamma isoforms have been identified in pig, PPAR-gamma1 and PPAR-gamma2. Porcine PPAR-gamma1a consists of two leader exons, designated A1 and A2, followed by six exons containing the open reading frame. Here, we report the isolation and characterization of three novel PPAR-gamma1 transcripts. PPAR-gamma1b is derived from exon A1, with exon A2 spliced out. PPAR-gamma1c and PPAR-gamma1d are derived from the new exon, A', containing exon A2 (gamma1c) or without exon A2 (gamma1d). Based on PCR analysis of PAC clones that included sequences from the 5'-untranslated region of the PPAR-gamma gene, the new A' exon is located between the known exons A1 and A2. We also isolated the human homologue to exon A', as well as the two new PPAR-gamma1c and -gamma1d splice variants, from human adipose tissue. Studies of the expression of porcine PPAR-gamma by real time reverse transcription-polymerase chain reaction analysis show that transcripts derived from exon A1 were not expressed at significantly different levels in visceral fat (lamina subserosa) or subcutaneous fat (back fat, inner and outer layer). In contrast, exon A'-derived transcripts were expressed at progressively higher levels in the inner and outer layers of subcutaneous fat than in visceral fat. The same expression pattern was also observed for PPAR-gamma2. We hypothesize that there are three promoters, which differentially regulate PPAR-gamma1 and PPAR-gamma2 gene expression, depending on the specific localization of the fat tissue.

Alternative Splicing↗

[Technique and indications in pediatric oncology. Positron emission tomography with 18F-fluorodeoxyglucose].

Positron emission tomography is the last non invasive imaging technique introduced in clinical practice. Its remarkable efficiency for cancer diagnosis and for the optimization of the therapeutical management of adult patients in oncology is now well known. Pathophysiology of tumors being comparable, the same results are expected for children. Highly interesting reports have already established such good performances about lymphoma or bone sarcomas. Complementary data are necessary to define the optimal place of PET in the care of children cancer because PET can be regarded as only at the eve of its development with the upraising of new technical possibilities and new radiopharmaceuticals providing various and complementary informations about tumors.

Child↗

Portal vein thrombosis during antineoplastic chemotherapy in children: report of five cases and review of the literature.

We report five paediatric cases of portal vein thrombosis (PVT) occurring during chemotherapy, observed in two institutions over an 8-year time period. These children aged 2.5-15 years were treated for Burkitt's lymphoma, Ewing's tumour, small cell bone tumour or medulloblastoma. PVT was diagnosed on colour Doppler ultrasonography (US). In four patients, thrombosis occurred 2-45 days after severe hepatic veno-occlusive disease (HVOD) secondary to intensive chemotherapy containing busulfan. In one case, PVT occurred in the absence of HVOD in a patient with pre-existing periportal lymphomatous infiltration. Four patients experienced persistent portal hypertension, which resulted in death in one. PVT during chemotherapy in children is a rare event and appears to be closely related to intensive chemotherapy containing busulfan and to be associated with HVOD.

Adolescent↗

Localized cervical neuroblastoma: prevention of surgical complications.

OBJECTIVES: The purpose of this study focused on cervical neuroblastoma (NB) was to assess the prognosis, define the most suitable methods of investigation, and evaluate risk factors for complications following primary surgery. METHODS: Between 1990 and 1999, we conducted two consecutive prospective multicentric studies (NBL90 and NBL94) on localized NB. Because the first study (1990-1994) found surgery-related morbidity and mortality, several surgical risk factors (i.e. adhesion to major vessels, size, friability, and dumb bell tumor) were defined and used prospectively as criteria of resectability in the second study (1994-1999). RESULTS: Of 617 cases included in the two studies, 43 involved cervical NB including 17 cervicothoracic tumors. With a median follow-up of 4 years, overall survival and event-free survival rates were 91 and 81%, respectively with no significant difference between cervical or cervicothoracic NB. Seventeen patients were included in the second study; surgery was used as the first line treatment in 11. Full pre-operative work-up was performed in eight patients, demonstrating one or more risk factors in three. The remaining three patients underwent emergency surgery with no pre-operative work-up or only ultrasound: two developed serious complications. All three patients presenting documented risk factors developed post-operative complications versus only two of the eight patients who presented no risk factor (n = 5) or were inadequately evaluated (n = 3) (P = 0.06). None of the five patients in whom full work-up demonstrated no risk factor had post-operative complications (P = 0.02). CONCLUSIONS: Cervical neuroblastoma has a favorable prognosis. Surgery is the treatment of choice but there is a risk of complications. Appropriate pre-operative work-up is mandatory to evaluate resectability. The surgical risk factors defined for our second study seem to be significant predictors of post-operative complications.

Female↗

[CT and MR image fusion using two different methods after prostate brachytherapy: impact on post-implant dosimetric assessment].

PURPOSE: To study different methods of CT and MR images fusion in patient treated by brachytherapy for localized prostate cancer. To compare the results of the dosimetric study realized on CT slices and images fusion. MATERIALS AND METHODS: Fourteen cases of patients treated by I125 were retrospectively studied. The CT examinations were realized with contiguous section of 5mm thickness, and MR images were obtained with a surface coil with contiguous section of 3 mm thickness. For the images fusion process, only the T2 weighted MR sequence was used. Two processes of images fusion were realized for each patient, using as reference marks the bones of the pelvis and the implanted seeds. A quantitative and qualitative appreciation was made by the operators, for each patient and both methods of images fusion. The dosimetric study obtained by a dedicated software was realized on CT images and all types of images fusion. The usual dosimetric indexes (D90, V100 and V150) were compared for each type of image. RESULTS: The quantitative results given by the software of images fusion showed a superior accuracy to the one obtained by the pelvic bony reference marks. Conversely, qualitative and quantitative results obtained by the operators showed a better accuracy of the images fusion based on iodine seeds. For two patients out of three presenting a D90 inferior to 145 Gy on CT examination, the D90 was superior to this norm when the dosimetry was based on images fusion, whatever the method used. CONCLUSION: The images fusion method based on implanted seed matching seems to be more precise than the one using bony reference marks. The dosimetric study realized on images fusion could allow to rectify possible errors, mainly due to difficulties in surrounding prostate contour delimitation on CT images.

Adenocarcinoma↗

cDNA cloning, mapping and polymorphism of the porcine Rhesus (RH) gene.

The Rhesus (Rh) gene superfamily in humans and mice contains four independent genes, RH, RHAG, RHBG, and RHCG/GK. Heretofore, only the RHBG cDNA has been cloned in pig. We have isolated the porcine RH cDNA; its complete open reading frame of 1269 nucleotides encoded 423 amino acids. Porcine RH protein shared 67.6% amino acid identity with bovine RH, 61.0% with human RhCE and 60.8% with human RhD. The RT-PCR revealed RH transcripts in the spleen and bone marrow, but not in the heart, kidney, or lung. In RH intron 4, a deletion of 17 nucleotides distinguished the shorter allele (allele 1) from the longer. As determined in 115 unrelated pigs from five breeds - Landrace (L, n = 23), Large White (LW, n = 28), Duroc (D, n = 24), Hampshire (H, n = 20) and Piétrain (n = 20) - allele 1 frequencies were 1.0 (L, H), 0.77 (LW), 0.70 (P) and 0.25 (D). Somatic cell hybrid mapping localized the porcine RH and RHBG genes to pig chromosomes 6q22-q23 and 4q21-q22, respectively. Genetic mapping suggested RH-(FUT1, S, GPI, EAH, A1BG)-PGD as the most probable locus order. Sequence homology, mapping data, and haematopoietic tissue expression suggest that this cDNA may indeed encode the porcine RH homologue.

Animals↗

Carboplatin before and during radiation therapy for the treatment of malignant brain stem tumours: a study by the Société Française d'Oncologie Pédiatrique.

Childhood malignant brain stem tumours have a very poor prognosis with a median survival of 9 months despite radiotherapy. No chemotherapy has improved survival. However, carboplatin has been reported to have activity in glial tumours as well as antitumour synergy with radiation. Our aims were to test the response rate of these tumours to carboplatin alone and to evaluate the efficacy on survival of carboplatin alone followed by concurrent carboplatin and radiotherapy. Patients younger than 16 years with typical clinical and radiological presentation of infiltrating brain stem tumour, as well as histologically-documented cases in the atypical forms, were eligible. Two courses of carboplatin (1050 mg/m2 over 3 days) were administered initially. This treatment was followed by a chemoradiotherapy phase including five weekly carboplatin courses (200 mg/m2) and conventional radiotherapy. 38 eligible patients were included. No tumour response was observed after the initial phase. This schedule of first-line carboplatin followed by concurrent carboplatin and radiotherapy did not improve survival.

Adolescent↗

Fine-mapping of the intestinal receptor locus for enterotoxigenic Escherichia coli F4ac on porcine chromosome 13.

The aim of this study was to refine the localization of the receptor locus for fimbriae F4ac. Small intestinal enterocyte preparations from 187 pigs were phenotyped by an in vitro adhesion test using two strains of Escherichia coli representing the variants F4ab and F4ac. The three-generation pedigree comprised eight founders, 18 F1 and 174 F2 animals, for a total of 200 pigs available for the linkage analysis. Results of the adhesion tests on 171 F2 pigs slaughtered at 8 weeks of age show that 23.5% of the pigs were adhesive for F4ab and non-adhesive for F4ac (phenotype F4abR+/F4acR-; R means receptor). Pigs of this phenotype were characterized by a weak adhesion receptor for F4ab. No pigs were found expressing only F4acR and lacking F4abR. Receptors for F4ab and F4ac (F4abR+/F4acR+) were expressed by 54.5% of the pigs. Animals of this phenotype strongly bound both F4ab and F4ac E. coli. In the segregation study, the serum transferrin (TF) gene and 10 microsatellites on chromosome 13 were linked with F4acR (recombination fractions (theta) between 0.00 and 0.11 and lod score values (Z) between 11.4 and 40.4). The 11-point analysis indicates the F4acR locus was located in the interval S0068-Sw1030 close to S0075 and Sw225, with recombination fractions (theta) of 0.05 between F4acR and S0068, 0.04 with Sw1030, and 0.00 with S0075 and Sw225. The lack of pigs displaying the F4abR-/F4acR+ phenotype and the presence of two phenotypes for F4abR (a strong receptor present in phenotype F4abR+/F4acR+ and a weak receptor in phenotype F4abR+/F4acR-) led us to conclude that the receptor for F4ac binds F4ab bacteria as well, and that it is controlled by one gene localized between S0068 and Sw1030 on chromosome 13.

Animals↗

[Genomic methods for identification of traits and inherited disorders in farm animals].

In this review we demonstrate the interaction of the blueprint of an individual (the genome, genomic DNA), its phenotype and the environment. The phenotype consists of quantitative (e.g. growth, milk yield) or functional characteristics e.g. fitness, longevity, fertility and disease resistance. The latter characteristics influence the welfare of an animal substantially. As only the genetically determined part of a particular characteristic is transferred from one generation to the next, it is important to know what the genetic variants (alleles) of the parents at one or more gene loci are. New methods in molecular biology have made it possible to localize and characterize important genes which help to breed more efficient and healthy animals. The exact characterization of the phenotype is vital in identifying genes with major effects and therefore the cooperation with experts from veterinary medicine, biochemistry, and biology is indispensable. As well as an overview of available genetic tests in farm animals, we show various examples how to identify the molecular basis of a particular phenotype and how to use the results in practical breeding programs. Genetic diagnosis enables the breeder to identify undesired alleles early and hinders therefore its uncontrolled distribution in the population. In the long term this leads to a smaller number of affected animals and depending on the disease it may help to prevent animals from suffering.

Alleles↗