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Biomedical subjects

C Bonnet

Publications and source records attributed to C Bonnet.

At least 19 recordsLinked to original sources
PubMed2006

Pure de-novo 5 Mb duplication at Xp11.22-p11.23 in a male: phenotypic and molecular characterization.

Males with duplications within the short arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. Here we describe the first detailed characterization of a de-novo Xp duplication delineated to Xp11.22-->Xp11.23 in a 15-year-old male with moderate mental impairment, autistic-like behaviour, short stature, and mild dysmorphic features. Chromosome analysis (550 band resolution) was normal and comparative genomic hybridization (CGH) analysis on metaphase spreads detected duplication on Xp11. Further characterization of the duplication by array CGH, FISH experiments with specific BAC probes, and genotyping with microsatellite markers helped to determine proximal and distal breakpoints giving a size of the duplication of approximately 5 Mb. As far as we are aware this is the first described male with isolated microduplication on Xp11.22-Xp11.23. Among the genes included within the duplicated region, and particularly those which are outside copy number polymorphisms, we discuss the relationship of FTSJ1, PQBP1 and HDAC6 with the clinical symptoms of our patient.

Adolescent↗
PubMed2006

[Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities].

Chromosomal aberrations are the first cause of mental impairment and dysmorphism. Rearrangements involving large chromosomal segments can be detected by standard chromosome analysis using GTG-banding, but this technique is not suited for the detection of small chromosome abnormalities. Array comparative genomic hybridisation (array-CGH) is a method used to detect segmental DNA copy number alterations. Recently, advances in this technology have enabled high-resolution examination for identifying genetic alterations and copy number variations on a genome-wide scale. This review describes the current genomic array platforms and CGH methodologies and highlights their applications for studying constitutional disease.

Chromosome Disorders↗
PubMed2006

Infections after allogeneic hematopoietic stem cell transplantation with a nonmyeloablative conditioning regimen.

Hematopoietic cell transplantation (HCT) following nonmyeloablative conditioning (NMSCT) may be associated with a reduced risk of infection compared to standard allogeneic HCT. We retrospectively analyzed incidence and risk factors of infection in 62 patients undergoing NMSCT with low-dose TBI +/- fludarabine and postgrafting CsA and MMF. The proportion of patients with any infection was 77%, but the majority of infectious events occurred beyond day 30. Donor other than sibling, older age, early disease and male gender were significant risk factors. The incidence of bacteremia was 55% at 1 year and the number of bacteremic episodes was 0.9 per patient (0.08 before day 30). The risk of bacteremia increased with older age and the use of a donor other than an HLA-identical sibling, but not with neutropenia. The incidence of infections other than bacteremia correlated with the use of corticosteroids. The risk of CMV infection increased with high-risk CMV serology, and risk of CMV disease with high-risk CMV serology, older age, first transplantation and a diagnosis of lymphoma. In conclusion, after NMSCT, infections are not frequent in the first 30 days post transplant but careful long-term monitoring is necessary thereafter.

Adrenal Cortex Hormones↗
PubMed2006

Simple reaction times in subjects with steeply sloping hearing loss: is there an alteration at the edge of the loss?

The aim of the present study was to investigate the simple reaction time (RT) performance of patients with steeply sloping sensorineural hearing loss. This kind of hearing loss has the particularity of inducing a reorganization of the primary auditory cortex (Dietrich et al, 2001), the edge frequency of the loss being over-represented. It is assumed that a consequence of this plasticity could be reflected in an improvement in frequency discrimination performances around the edge of the loss (McDermott et al, 1998). In the present study we used pure tones equalized in loudness to investigate whether RT might be altered at the cut-off frequency (Fc) of the loss, or at the frequency that presented the best discrimination-limen-for-frequency (bDLF). The effect of auditory rehabilitation on RT was also studied. A great variability in RT was noted in all our subjects. Our results demonstrated that RT was unmodified at Fc or bDLF, be it before or after hearing aid fitting. However, an improvement in the correlation between RT and frequency discrimination performance was observed at three months post-rehabilitation.

Aged↗
PubMed2005

[Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries].

INTRODUCTION: In order to establish the best strategy of treatment and predictors of outcome in infants with pulmonary atresia with ventricular septal defect and major aorto-pulmonary collateral arteries, we reviewed our institutional experience concerning 47 infants. METHODS: Inclusion criteria included an angiographic diagnosis of pulmonary atresia with ventricular septal defect and major aorto-pulmonary collateral arteries with or without central pulmonary arteries and a repair by the same surgeon. Thirty-one patients had confluent (type III) and 16 absent (type IV) central pulmonary arteries. Pulmonary arteries were considered to be adequate when they measured > or = 4 mm. RESULTS: There were 8 deaths (17%). Complete repair was performed in 24 patients (18 in group III and 6 in group IV) with 79.3% had a right/left ventricular pressure <0.5, 16; 5%<1 and 4.2%>1. Eleven patients are waiting for complete repair and 4 will be operated on pulmonary arteries. One stage complete repair was performed in 3 patients, two and third stage repair (after unifocalisation or right ventricle to pulmonary arteries conduit) was attained in 21 patients. Among patients having had a complete repair and showing a right/left ventricular pressure <0.5, 88.9% had a pulmonary atresia with ventricular septal defect type III and 50% a pulmonary atresia with ventricular septal defect type IV. Only 56% of type III patients with a right/left ventricular pressure <0.5 had adequate central pulmonary arteries. CONCLUSION: In our study, the small size and the absence of central pulmonary arteries do not prevent a positive outcome.

Aorta↗
PubMed2004

[Use of 3 French catheters for diagnostic and interventional procedures in newborns and small infants].

Miniaturisation of diagnostic and interventional tools is of main interest for cardiac catheterization of newborns and small infants, due to the limited vascular access of these patients. Since January 2001 to November 2002, we performed 11 diagnostic and 5 interventional procedures in 15 infants, utilising custom-made 3 F sheaths and catheters. The median age and weight of the patients were 7 days (range 1-180) and 2.8 kg (range 2-4), respectively. Diagnostic catheterizations gave the required information in all cases. Angiography was performed following the results of in vitro pressure to volume tests. Blood sampling was possible by using gentle aspiration. Pressure measurement, although showing some dumping, allowed the evaluation of peak to peak gradient through right and left ventricular outflow tracts. It was always possible to perform an interventional procedure, when required. No procedural complications occurred. The price for a diagnostic or interventional procedure performed with 3 F sheath and catheters exceeded of 23 euros that of a procedure performed with material measuring 4 F or more. Patients underwent echographic examination of femoral vessels at a median follow-up of 6.3 months (range 2-10 months). All vessels of the examined patients were patent, without stenosis nor collateral circulation. In conclusion, preliminary results utilising 3 F sheaths and catheters are encouraging, in terms of feasibility of diagnostic and interventional procedures, absence of procedural complications and preservation of vascular access. Financial implications are not of major concern.

Cardiac Catheterization↗
PubMed2004

[Coronary fistula in tetralogy of Fallot: a rare complication of embolisation].

The authors report the spontaneous detachment of a coil during embolisation of a coronary fistula in a 34 old year woman with operated tetralogy of Fallot. The fistula originated from an isolated circumflex artery and drained into the infundibulum. By retrograde approach, a microcatheter was successfully advanced into the distal part of the fistula, one coil loop was fixed through the fistula mouth and two in its distal portion. During positioning of the proximal part of the coil, it suddenly detached into the microcatheter. Coaxial snaring of the coil was attempted, however this manoeuvre produced progressive elongation and repeated ruptures of the coil. Finally, the procedure was abandoned; surgical extraction of the coil and suture of the fistula were successfully performed. Percutaneous transcatheter closure of coronary fistulae, although generally feasible is burdened by complications due to tortuous anatomy, poor stabilisation of catheters and lack of specific materials.

Adult↗
PubMed2003

Molecular mechanisms involved in the antiproliferative effect of two COX-2 inhibitors, nimesulide and NS-398, on colorectal cancer cell lines.

BACKGROUND: Cyclooxygenase (COX)-2 is up-regulated in most colorectal cancers. Chronic use of non-steroidal anti-inflammatory drugs, which target cyclooxygenases, have been shown to reduce the risk of these cancers. However, the mechanisms underlying this protective effect remain unclear. AIMS: The aim of our study was to characterize the effects of two COX-2 selective inhibitors, NS-398 and nimesulide, on colorectal cancer cell proliferation, and to describe the molecular mechanisms involved. MATERIALS AND METHODS: HT-29 and SW-1116 cell lines were cultured with either NS-398 or nimesulide. Cell proliferation was assessed by staining DNA with crystal violet. Cell cycle repartition and apoptosis were analysed by flow cytometry. The expression of COX-1 and COX-2. and of two cyclin dependent kinase inhibitors, p21Cip1 and p27Kip1, was analysed by Western blotting and RT-PCR. RESULTS: Both drugs dose-dependently inhibited cell proliferation and induced G1 cell cycle blockade. HT-29 cells were more sensitive to both drugs than SW-1116 cells. p21Cip1 and p27Kip1 were induced on both cell lines. Concomitant induction of p21Cip1 mRNA indicates transcriptional modulation, whereas induction of p27Kip1 only at the protein level suggests post-translational modulation. CONCLUSION: NS-398 and nimesulide inhibit colorectal cell proliferation through induction of p21Cip1 and p27Kip1.

Adenocarcinoma↗
PubMed2003

[Experience of implantation of prefitted Palmaz Corinthian stents].

We report our recent experience with the Palmaz Corinthian stent in children. Since 1/10/01 to 1/11/02 we implanted 18 Palmaz Corinthian stents in 12 children. Median age and weight of patients were 5.6 years (range 0.25-13) and 17.9 kg (range 3-36), respectively. Primary diagnosis were: pulmonary atresia with ventricular septal defect (n = 7), complex transposition of the great arteries (n = 2) and others (n = 3). Indications to stent implantation were: pulmonary branches stenosis (n = 9), stenosis of the ductus arteriosus (n = 1), stenosis of systemic veins (n = 2). All stents were pre-mounted and co-axially advanced over a standard guidewire across the stenotic site, using a 6F short introducer. Stent deployment was performed by hand inflation of the balloon. Final angiography confirmed correct positioning and ruled out complications. Median fluoroscopy time was 18 minutes (range 12-56). All stents reached their nominal diameter; 2 were post-dilated to 125 and 150%. No procedural complications occurred. Despite the impossibility of distal injection, stent positioning was always correct. In conclusion, due to the availability of pre-mounted stents, and the need of short 6F sheaths, the use of the Palmaz Corinthian stent in children is relatively simple. Primary results are generally good in terms of adequate delivery and absence of complications. However, the impossibility of distal injection makes more difficult the choice of the deployment site. Due to the limited possibility of over-dilation, the use of this stent has to be limited to the stenosis of peripheral pulmonary branches or to lesions that can be surgically treated during further surgical procedures.

Adolescent↗
PubMed2003

[Early complications of stenting in children and young adults with congenital heart disease].

We report the early complications of stent implantation. Since 1/1/97 to 1/12/02, we implanted 91 stents in 76 patients. Median age and weight were 15 years (range 0.3-43) and 49 kg (range 3-96). Primary diagnosis were: pulmonary atresia with ventricular septal defect (n = 17), tetralogy of Fallot (n = 13), aortic coarctation (n = 15), transposition of the great arteries (n = 3), truncus arteriosus (n = 6), univentricular heart (n = 7), other anomalies (n = 28). Indications to stent implantation were: stenosis of the pulmonary outflow and/or pulmonary branches (n = 44), aortic recoarctation (n = 14), native aortic coarctation (n = 1), systemic venous channels obstruction (n = 14), other (n = 3). The stents were: Palmaz (n = 57), non premounted CP (n = 8), premounted CP (n = 3), Palmaz Corinthian (n = 19), self-expanding (n = 4). Procedural complications occurred in 24 patients (31%) and included: 11 balloon bursting, 8 stent slipping, 1 stent migration, 4 wall dissections. Five patients (21%) needed urgent surgery. Sixty three percent of complications occurred during pulmonary outflow or pulmonary branches stenting, 25% during stenting of the aortic arch, 12% during other procedures. All but 2 complications were observed with non premounted stents. In conclusion, the use of not premounted stents, although widely diffuse, has a not negligible incidence of complications, leading to longer procedures, to the use of a large variety of materials and needing more than occasionally a surgical solution. A larger use of premounted stents, when possible, is recommended.

Adolescent↗
PubMed2002

Opioid rotation in the treatment of joint pain. A review of 67 cases.

OBJECTIVE: To determine that opioid rotation can be useful for establishing a more advantageous analgesia/toxicity relationship in rheumatologic pain. METHODS: Among patients treated with opioids for rheumatologic non-malignant pain, 67 patients with opioid rotation were enrolled retrospectively. In all cases, the other analgesics had failed. The opioids used were: oral morphine, oral hydromorphone, oral buprenorphine and transdermal fentanyl. The reasons for rotation were noted and the improvement of pain was assessed by comparing baseline and post-treatment visual analog scales (VAS in mm). RESULTS: The 67 patients suffered from low back pain with sciatica in 27 cases, inflammatory arthritis in 14 cases, brachial neuralgia in six cases, osteoarthritis in eight cases and miscellaneous in 12 cases. The opioid rotations were the substitution of morphine by transdermal fentanyl, by oral hydromorphone in most of the cases. The principal reason for opioid rotation was failure of the first treatment. The mean of VAS improvement was 30 mm (P < 0.001). CONCLUSION: In rheumatologic non-malignant pain, the opioid rotation might allow the physician to bypass side effects or failure to alleviate pain in most cases.

Administration, Cutaneous↗
PubMed2002

Helicobacter pylori seroprevalence in asymptomatic pregnant women in France.

The purpose of our study was to evaluate the incidence of Helicobacter pylori seropositivity in two different populations of asymptomatic pregnant women from different geographic origins during two separate time periods. A retrospective study of consecutive sera obtained from 169 and 302 asymptomatic pregnant women in 1990 and 1999, respectively, was carried out. The global H. pylori seroprevalences for 1990 and 1999 were 21.3 and 21.5% (where P is nonsignificant), respectively. For both periods the H. pylori seroprevalences were significantly higher in non-French pregnant women (66.6 and 50.6%) than in French pregnant women (18.7 and 11.2%) (P = 0.01 and 0.001, respectively). H. pylori seroprevalence in French pregnant women decreased significantly from the first period (18.7%) to the second one (11.2%) (P = 0.03).

Adult↗
PubMed2001

Differential binding regulation of microtubule-associated proteins MAP1A, MAP1B, and MAP2 by tubulin polyglutamylation.

The major neuronal post-translational modification of tubulin, polyglutamylation, can act as a molecular potentiometer to modulate microtubule-associated proteins (MAPs) binding as a function of the polyglutamyl chain length. The relative affinity of Tau, MAP2, and kinesin has been shown to be optimal for tubulin modified by approximately 3 glutamyl units. Using blot overlay assays, we have tested the ability of polyglutamylation to modulate the interaction of two other structural MAPs, MAP1A and MAP1B, with tubulin. MAP1A and MAP2 display distinct behavior in terms of tubulin binding; they do not compete with each other, even when the polyglutamyl chains of tubulin are removed, indicating that they have distinct binding sites on tubulin. Binding of MAP1A and MAP1B to tubulin is also controlled by polyglutamylation and, although the modulation of MAP1B binding resembles that of MAP2, we found that polyglutamylation can exert a different mode of regulation toward MAP1A. Interestingly, although the affinity of the other MAPs tested so far decreases sharply for tubulins carrying long polyglutamyl chains, the affinity of MAP1A for these tubulins is maintained at a significant level. This differential regulation exerted by polyglutamylation toward different MAPs might facilitate their selective recruitment into distinct microtubule populations, hence modulating their functional properties.

Animals↗
PubMed2001

Difficulties of diabetic patients in learning about their illness.

The aim of this report is to shed light on the difficulties experienced by diabetic patients in learning about their illness. One hundred and thirty-eight diabetic people (97 IDD and 41 NIDD) were questioned at two survey locations, one national (63) and one regional (75), by means of a closed answer questionnaire. One hundred and four (75%) had attended a formal programme of diabetes education. They were asked which points in their diabetes education they had best understood and which they had least understood. The main results show that, globally, they easily acquire the manual skills. Conversely, numerous learning difficulties are associated with the skills required to solve problems and make decisions, such as adaptation of doses of insulin. These results are comparable to those obtained in a previous study in which professional carers were asked about their difficulties in educating their patients.

Adolescent↗