PubMed | Montpellier University, Histologie Embryologie Cytogenetique, Nancy University Hospital Center, Service de Genetique Clinique and 18 more.
Type: Journal Article | Journal: Genetics in medicine : official journal of the American College of Medical Genetics | Year: 2016
Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C.We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene.We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature.Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
Dufour X.,Service dOrl |
Beby-Defaux A.,Laboratoire Of Virologie |
Beby-Defaux A.,University of Poitiers |
Agius G.,Laboratoire Of Virologie |
And 2 more authors.
European Annals of Otorhinolaryngology, Head and Neck Diseases | Year: 2012
Head and neck cancer is frequent worldwide and oropharyngeal locations are presently sharply on the increase, in relation with an increasing incidence of oropharyngeal infection by oncogenic type-16 human papillomavirus (HPV). The clinical and biologic profile of these patients is distinct from that of other oropharyngeal carcinoma patients, with earlier onset, cystic cervical nodes and basaloid carcinoma histopathology. Detection of intratumoral viral DNA is essential to confirm the role of HPV, and E6/E7 mRNA expression is the most relevant indicator for stratification. Several methods can reveal intratumoral oncogenic HPV DNA, but PCR with hybridization is the most sensitive and most widely used. According to several reports, prognosis in terms of survival and locoregional control is better in HPV-positive oropharyngeal carcinoma than in oropharyngeal carcinoma associated with smoking and alcohol consumption. The future lies in vaccination, but further studies will determine whether the rate of oropharyngeal carcinoma falls in women vaccinated against cervical cancer. © 2011 Elsevier Masson SAS. All rights reserved.
Buiret G.,University of Lyon |
Combe C.,Direction des Systemes dInformation et Informatique |
Favrel V.,University of Lyon |
Pommier P.,Center Leon Berard |
And 6 more authors.
International Journal of Radiation Oncology Biology Physics | Year: 2010
Purpose: To investigate, in a multicenter study, the tolerance of induction chemotherapy (ICT) and external radiotherapy (ERT) with concomitant cetuximab in the treatment of patients with squamous cell carcinoma of the head and neck (SCCHN). Patients and Methods: Clinical data from 46 patients with Stage III or IV nonmetastatic SCCHN who received docetaxel, cisplatin, and 5-fluorouracil as ICT, followed by ERT with concomitant cetuximab, were retrospectively analyzed. Clinical safety (weight, allergy, mucositis, and dermatitis) and paraclinical safety (levels of hemoglobin, polynuclear neutrophils, and creatinine clearance) were studied. The primary objective was the proportion of patients who completed the protocol. Results: The percentage of patients completing ICT was 73.9%, ERT 93.5%, and cetuximab 69.6%. Induction chemotherapy was better tolerated than that previously reported. The rates of temporary suspensions of radiation (39.1%, mean duration of 13 days) and hospitalization (26.1%) during ERT with concomitant cetuximab were high. Weight loss during treatment (21.4% of patients lost >10% of their body weight), radiodermatitis, and radiomucositis were the main causes of temporary suspension of treatment, although Grade 4 dermatitis was not experienced. There were no allergic reactions to cetuximab. Conclusion: The completed protocol rate for SCCHN patients receiving ICT and ERT with concomitant cetuximab is high and the toxicity acceptable. Future improvements to protocol will be possible through early action and systematic implementation of nutritional support coupled with antibiotic treatment upon the first signs of radiodermatitis. These data could be useful for prospective studies on the safety and efficacy of this protocol. © 2010 Elsevier Inc. All rights reserved.
Bucci M.P.,University of Paris Descartes |
Kapoula Z.,French National Center for Scientific Research |
Bui-Quoc E.,Service dOPH |
Bouet A.,Service dOPH |
Wiener-Vacher S.,Service dORL
PLoS ONE | Year: 2011
Purpose: Early studies reported some abnormalities in saccade and vergence eye movements in children with vertigo and vergence deficiencies. The purpose of this study was to further examine saccade and vergence performance in a population of 44 children (mean age: 12.3±1.6 years) with vertigo symptoms and with different levels of vergence abnormalities, as assessed by static orthoptic examination (near point of convergence, prism bar and cover-uncover test). Methods: Three groups were identified on the basis of the orthoptic tests: group 1 (n = 13) with vergence spasms and mildly perturbed orthoptic scores, group 2 (n = 14) with moderately perturbed orthoptic scores, and group 3 (n = 17) with severely perturbed orthoptic scores. Data were compared to those recorded from 28 healthy children of similar ages. Latency, accuracy and peak velocity of saccades and vergence movements were measured in two different conditions: gap (fixation offset 200 ms prior to target onset) and simultaneous paradigms. Binocular horizontal movements were recorded by a photoelectric device. Results: Group 2 of children with vergence abnormalities showed significantly longer latency than normal children in several types of eye movements recorded. For all three groups of children with vergence abnormalities, the gain was poor, particularly for vergence movement. The peak velocity values did not differ between the different groups of children examined. Interpretation: Eye movement measures together with static orthoptic evaluation allowed us to better identify children with vergence abnormalities based on their slow initiation of eye movements. Overall, these findings support the hypothesis of a central deficit in the programming and triggering of saccades and vergence in these children. © 2011 Bucci et al.
Abdeldaoui A.,Service dOrl |
Oker N.,Service dOrl |
Duet M.,Service de Medecine Nucleaire |
Cunin G.,Unite Fonctionnelle de Medecine de la Douleur |
Tran Ba Huy P.,Service dOrl
European Annals of Otorhinolaryngology, Head and Neck Diseases | Year: 2013
Introduction: First Bite Syndrome (FBS) is a rare pain syndrome sometimes occurring after surgery of the upper cervical region. It presents as excruciating pain, triggered at the beginning of a meal by chewing, swallowing or even simple contact with generally acidic food, waning on subsequent bites and recurring with identical features after pausing for several minutes or at the next meal. Objectives: Retrospective review of 17 patients who developed FBS after upper cervical surgery. Results: Seventeen patients developed FBS between 1999 and 2010 following surgery for paraganglioma in eight cases, vagal or sympathetic schwannoma in five cases (including one malignant tumour), pleiomorphic adenoma in three cases and Warthin's tumour of the deep lobe of the parotid in one case. The cervical sympathetic trunk was sacrificed in 10 cases and the external carotid artery was ligated in six cases. Horner's sign was observed postoperatively in 12 patients. The characteristic pain of FBS was triggered by chewing or simple contact with essentially acidic food. Conclusion: FBS must be identified by the head and neck surgeon and distinguished from the usual postoperative pain. The generally accepted hypothesis is that of sympathetic denervation with parasympathetic secretory hyperactivity, but Horner's sign was present in only 12 of the 17 patients of our series, suggesting that other pathogenic mechanisms may be involved. FBS is difficult to treat, but the pain gradually becomes less severe. The patient must be informed about this rare complication that can impact on postoperative quality of life. © 2013 Elsevier Masson SAS.
Chambon G.,University of Nimes |
Chambon G.,Montpellier University |
Alovisetti C.,University of Nimes |
Idoux-Louche C.,Service dOrl |
And 8 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2011
Context: The preoperative routine measurement of basal serum thyrocalcitonin (CT) in candidates for thyroidectomy due to thyroid nodules is currently a subject of debate. Objective: The objective of this study was to evaluate the role of systematic basal serum CT measurement in improving the diagnosis and surgical treatment of medullary thyroid carcinoma (MTC) in patients undergoing thyroidectomy for nodular thyroid disorders, regardless of preoperative CT levels. Design: We determined basal serum CT levels in 2733 consecutive patients before thyroid surgery and performed a pentagastrin test in patients with hypercalcitoninemia. We correlated basal and stimulated CT levels with intraoperative and definitive histopathological findings, and we analyzed the impact of these results on surgical procedures. Results: Twelve MTCs were found among the 43 patients with basal serum CT level of 10 pg/ml or greater. Two MTCs were present among the 2690 patients with normal CT levels. MTC was always present in patients with a basal CT of 60 pg/ml or greater. For CT levels ranging from 10 to 59 pg/ml, MTC was diagnosed in 11% of patients. When preoperative hypercalcitoninemia was present, total thyroidectomy associated with comprehensive intraoperative histopathological analysis allowed the intraoperative diagnosis of five latent, subclinical MTCs. The pentagastrin test gave no additional diagnostic information for the management of patients with elevated preoperative basal serum CT level. Conclusion: Routine measurement of CT in the preoperative work-up of nodular thyroid disorders is useful. This procedure improves intraoperative diagnosis of MTC and enables adapted initial surgery, the most determinant factor of treatment success. Copyright © 2011 by The Endocrine Society.
Lions C.,University Paris Diderot |
Quoc E.B.,Service dOphtalmologie |
Wiener-Vacher S.,Service dORL |
Bucci M.P.,University Paris Diderot
Frontiers in Physiology | Year: 2014
Objective: To examine the effect of proprioceptive information during postural control in strabismic children. Methods: Postural stability was recorded with a platform (Techno Concept®) in 12 strabismic children aged from 4.9 to 10 years and data were compared to that of 12 control age-matched children. Two postural positions were performed: Romberg and Tandem. Two postural conditions: without and with foam pad. We analyzed the surface area, the length, the mean speed of the center of pressure (CoP) and the effect of proprioceptive information. Results: Strabismic children are more instable than control age-matched children. The surface, the length and the mean speed of CoP are significantly higher in strabismic children than in control age-matched children. Both groups are more instable in Tandem position than in Romberg position. Finally, strabismic children use more proprioceptive information than control age-matched children. Conclusion: For both Romberg and Tandem position, strabismic children are more instable than control age-matched children. Strabismic children use proprioceptive information more than control age-matched children to control their posture. Significance: Proprioceptive inputs are important for control posture particularly for strabismic population. © 2014 Lions, Bui Quoc, Wiener-Vacher and Bucci.
Veillon F.,Service de Radiologie I |
Ramos-Taboada L.,Service de Radiologie I |
Abu-Eid M.,Service de Radiologie I |
Charpiot A.,Service dORL |
Riehm S.,Service de Radiologie I
European Journal of Radiology | Year: 2010
The facial nerve is responsible for the motor innervation of the face. It has a visceral motor function (lacrimal, submandibular, sublingual glands and secretion of the nose); it conveys a great part of the taste fibers, participates to the general sensory of the auricle (skin of the concha) and the wall of the external auditory meatus. The facial mimic, production of tears, nasal flow and salivation all depend on the facial nerve. In order to image the facial nerve it is mandatory to be knowledgeable about its normal anatomy including the course of its efferent and afferent fibers and about relevant technical considerations regarding CT and MR to be able to achieve high-resolution images of the nerve. © 2010.
Francois M.,Service dORL
Revue Francaise d'Allergologie | Year: 2016
Adenoidectomy removes the major part of the rhinopharyngeal lymphoid tissue. When a neoplasm is suspected, an anatomopathological examination is required. Adenoidectomy is effective in cases of adenoid hypertrophy with upper airway obstruction, especially when it occurs during sleep. It is also recommended in cases of recurrent acute otitis media, of otitis media with effusion and of chronic rhinosinusitis. Adenoidectomy is performed under general anesthesia, usually on an ambulatory basis. © 2015 Elsevier Masson SAS.
PubMed | Institute Imagine, Service dHistologie, Service de Radiologie, University of Paris Descartes and Service dORL
Type: Case Reports | Journal: European journal of medical genetics | Year: 2016
CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE. A de novo mutation at the donor splice site of intron 33 was identified (c.7164 + 1G > A). It is of importance to diagnose mildly affected patients for appropriate genetic counselling and to better understand the mild end of the phenotypic spectrum of CHARGE syndrome.