Multicentric study of medical care and practices in spinal muscular atrophy type 1over two 10-year periods [Amyotrophie spinale type 1: Enquête multicentrique des pratiques de soins et daccompagnement palliatif sur deux périodes successives de 10ans]
Barnerias C.,Unite de neuropediatrie |
Quijano S.,Service de reanimation neuromusculaire |
Mayer M.,Service de neuropediatrie |
Estournet B.,Service de reanimation neuromusculaire |
And 14 more authors.
Archives de Pediatrie | Year: 2014
Aim: Questions about care practices and the role of palliative care in pediatric neurodegenerative diseases have led the Neuromuscular Committee of the French Society of Neurology to conduct a retrospective study in spinal muscular atrophy type 1, a genetic disease most often leading to death before the age of 1year. Material and methods: A retrospective multicenter study from pediatricians included in the reference centers of pediatric neuromuscular diseases was carried out on two 10-year periods (1989-1998and 1999-2009). Results: The 1989-1998period included 12centers with 106patients, the 1999-2009period 13centers with 116children. The mean age of onset of clinical signs was 2.1months (range, 0-5.5months), the median age at diagnosis was 4months (range, 0-9months) vs 3months. The median age of death was 7.5months (range, 0-24months) vs 6months. The care modalities included physiotherapy (90%), motor support (61% vs 26% for the previous period), enteral nutrition by nasogastric tube (52% vs 24%), and 3.4% of children had a gastrostomy (vs 1.8%). At home, pharyngeal aspiration was used in 64% (vs 41%), oxygen therapy in 8%, noninvasive ventilatory support in 7%. The mean age at death was 8.1months (range, 0-24months) vs 7months, the time from diagnosis to death was 4months vs 3months. Death occurred at home in 23% vs 17%, in a pediatric unit in 62% vs 41%. The use of analgesics and sedative drugs was reported in 60% of cases: 40% morphine (vs 18%) and benzodiazepines in 48% (vs 29%). Respiratory support was limited mostly to oxygen by nasal tube (55% vs 54%), noninvasive ventilation in 9% of the cases, and intubation and assisted mechanical ventilation (2%). Discussion and Conclusion: These results confirm a change in practices and the development of palliative care in children with a French consensus of practices quite different from the standard care in North-America and closer to the thinking of English medical teams. A prospective study within the 2011national hospital clinical research program (PHRC 2011) is beginning in order to evaluate practices and the role of families and caregivers. © 2014 Elsevier Masson SAS.
Rozenberg P.,University of Versailles |
Chauveaud A.,Hopital Antoine Bclre |
Deruelle P.,Hopital Jeanne de Flandre |
Capelle M.,Hopital de la Conception |
And 11 more authors.
American Journal of Obstetrics and Gynecology | Year: 2012
Objective: The objective of the study was to evaluate the use of 17 alpha-hydroxyprogesterone caproate (17P) to reduce preterm delivery. Study Design: This open-label, multicenter, randomized controlled trial included women with singleton pregnancies admitted at 24-31 weeks' gestation and cervical length less than 25 mm for preterm labor successfully arrested by tocolytic treatment. Randomization assigned them to receive (or not) 500 mg of intramuscular 17P after tocolysis ended, repeated semiweekly until 36 weeks or preterm delivery. The primary outcome was the time from randomization to delivery. Results: Outcome data were available for 184 of 188 women randomized. The 17P and control groups (similar for most baseline characteristics) did not differ significantly for median [interquartile range] time to delivery (64  and 67  days, respectively) or rates of delivery before 37, 34, or 32 weeks of gestation or adverse perinatal outcomes. Conclusion: Semiweekly injections of 17P did not prolong pregnancy significantly in women with tocolysis-arrested preterm labor. © 2012 Mosby, Inc.
Leboulanger N.,Hopital Armand Trousseau |
Fayoux P.,Hopital Jeanne de Flandre |
Teissier N.,Hopital Robert Debre |
Cox A.,Hopital Armand Trousseau |
And 15 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2010
Objective: Preliminary assessment of the efficacy of propranolol on subglottic hemangioma in children on a nation-wide scale. Methods: Multicentric, retrospective study of clinical files of 14 children; pre- and post-treatment endoscopies. Results: Mean age at diagnosis was 2.3 (0.7-4) months. Mean percentage of airway obstruction was 68% (15-90) before propranolol introduction. Propranolol was started at 5.2 (0.7-16) months of age. This treatment was effective in all cases with a mean regression of the stenosis to 22% after 2 weeks and 12% after 4 weeks. Other medical treatments (steroids) could be stopped. In one patient, a side effect of propranolol motivated the switch to another β-blocker. In four patients, treatment was stopped after 5.2 (1-10) months with a relapse in 2 (50%) cases. One of these two patients developed a resistance to propranolol and required a surgical procedure by external approach. Conclusion: This preliminary nation-wide survey confirms propranolol high effectiveness against airways' localization of infantile hemangiomas. Propranolol also allows alleviation or cut-off of previous medical treatments. However, recurrences are possible after early treatment interruption. © 2010 Elsevier Ireland Ltd.
Touleimat M.,Pole Pharmacie |
Touleimat M.,University of Western Brittany |
Seguen V.,Hopital Morvan |
Kermarrec S.,Hopital Morvan |
And 2 more authors.
Pharmacien Hospitalier et Clinicien | Year: 2015
To reduce medication harm and meet regulation, our hospital got involved in the assessment of medication management circuit. The aim of this work was to describe a practical approach of audit extended to all of the clinical departments of a teaching hospital. Materials and method. A clinical audit by self-assessment has been conducted for the purpose of this work. After being trained to the methodology, all of the paramedical staff was considered as auditors. The paramedical staff of the 169 clinical departments were contacted and asked to contribute to the audit by filling an online audit quality grid during a five-week period. Results. A total of 80% (135/169) of the clinical departments contributed to the audit. The results were reported to the institution and to each department as a record. Discussion. Our aim to extend audits to all of the clinical departments was achieved at 80%. Following this audit, an action plan was implemented. Conclusion. We will conduct these audits every other year in accordance with this methodology in order to assess the action plan set up by each department. © 2015 Elsevier Masson SAS.
Morvan A.,Center Hospitalier Bretagne Atlantique |
De Korvin B.,Center Eugene Marquis |
Bouriel C.,Center Eugene Marquis |
Carsin A.,Center Eugene Marquis |
And 7 more authors.
Journal de Radiologie | Year: 2010
Purpose. This study aims to evaluate the sensibility and specificity of MRI in the detection and size measuring of residual breast cancer in patients treated with neoadjuvant chemotherapy before surgery.Patients and methods. This is a retrospective study of 32 women, who underwent breast MRI before and after neoadjuvant treatment. MRI has been confronted to surgical pathology results.Results. The sensibility of MRI to assess pathologic Complete Response (no invasive residual tumor) was excellent (100%) but the specificity was low (55,5%). There was no false negative case and four false positive cases (Two ductal carcinomas in situ and two scars-like fibrosis). When MRI outcomes were compared with the presence or absence of invasive or in situ residual carcinoma, only one false negative case was noticed (one "in situ" residual tumor).The correlation between tumor size measured by MRI and histopathology was low (rCombining double low line 0,32). Underestimations of tumor size were due to non-continuous tumor regression or invasive lobular carcinoma or association of invasive carcinoma and intra ductal breast cancer. Overestimations of tumor size were due to chemotherapy-induced changes.Conclusion. MRI is a sensitive but poorly specific method to assess the pathological complete response after neoadjuvant chemotherapy. Estimation of tumor size and detection of isolated residual in situ carcinoma are fare. Therefore, surgical intervention remains necessary whatever the MRI outcomes. © Éditions Françaises de Radiologie, Paris, 2010.
Basinko A.,University of Western Brittany |
Basinko A.,French Institute of Health and Medical Research |
Audebert-Bellanger S.,Hopital Morvan |
Douet-Guilbert N.,University of Western Brittany |
And 12 more authors.
American Journal of Medical Genetics, Part A | Year: 2011
We report here three children with a der(11)t(11;16), two sibs (patients 1 and 2) having inherited a recombinant chromosome from a maternal t(11;16)(q24.3;q23.2) and a third unrelated child with a de novo der(11)t(11;16)(q25;q22.1), leading to partial monosomy 11q and trisomy 16q. Fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones and array-CGH were performed to determine the breakpoints involved in the familial and the de novo rearrangements. The partial 11 monosomy extended from 11q24.3 to 11qter and measured 6.17-6.21Mb in Patients 1 and 2 while the size of the partial 11q25->qter monosomy was estimated at 1.97-2.11Mb for Patient 3. The partial 16 trisomy extended from 16q23.2 to 16qter and measured 8.93-8.95Mb in Patients 1 and 2 while the size of the partial 16q22.1->qter trisomy was 20.82Mb for Patient 3. Intraventricular hemorrhage and transitional thrombocytopenia were found in both sibs but not in the third patient. The FLI1 gene, which is the most relevant gene for thrombocytopenia in Jacobsen syndrome, was neither deleted in family A nor in Patient 3. We suggest that a positional effect could affect the FLI1 expression for these two sibs. Deafness of our three patients confirmed the association of this anomaly to 11q monosomy and tended to confirm the hypothetic role of DFNB20 in Jacobsen syndrome hearing loss. Both sibs shared most of the features commonly observed in Jacobsen syndrome, but not the third patient. This confirmed that terminal 11q trisomy spanning 1 to 1.97-2.11Mb is not associated with a typical Jacobsen syndrome. © 2011 Wiley-Liss, Inc.
Nguyen M.H.,University of Western Brittany |
Nguyen M.H.,French Institute of Health and Medical Research |
Morel F.,University of Western Brittany |
Morel F.,French Institute of Health and Medical Research |
And 11 more authors.
Andrologia | Year: 2015
Complex chromosome rearrangements (CCRs) are structural rearrangements involving at least three chromosomes and three or more chromosome breakpoints. Generally, balanced CCR carriers have a normal phenotype but they are at a higher reproductive risk. Azoospermia was discovered in the male partner of a couple with primary infertility. Conventional cytogenetics identified a CCR refined by fluorescent in situ hybridisation. The CCR involved three chromosomes, four breakpoints and an insertion. A literature search identified 43 phenotypically normal males referred for reproductive problems presenting a CCR. More males were ascertained because of spermatogenesis failure or disturbances than because of repeated abortions and/or birth of a malformed child. Male carriers of CCR produce a high frequency of chromosomally abnormal spermatozoa due to the aberrant segregation of the rearranged chromosomes. The number of chromosomes and breakpoints involved in the rearrangement, the position of breakpoints, the relative size of the resultant chromosomes and the presence or absence of recombination inside the paired-rearranged segments are presumed to affect the fertility of the carrier. Testicular biopsy should not be performed in males with azoospermia. Intracytoplasmic sperm injection should not be proposed as a procedure for treating the infertility of CCR male carriers as a successful result is unlikely. © 2014 Blackwell Verlag GmbH.