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1.
Encephale ; 49(4): 331-341, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35725521

RESUMO

OBJECTIVES: The recommended treatment for Eating Disorders (EDs) is multidisciplinary and multimodal. Nonetheless, the complex linkage of the different disciplines involved is not necessarily simple. We analyzed the experience of healthcare professionals faced with psychiatric and psychological symptoms in adolescents with EDs in two "multidisciplinary" inpatient units embedded predominantly in different paradigms - one pediatric and one psychiatric. METHODS: Qualitative analysis of 20 healthcare staff members' interviews from different professional backgrounds working in inpatient units for EDs in Montreal (Canada) and Paris (France). RESULTS: The "Complex patients" theme discusses the need for a global approach to the multiplicity of symptoms presented by these patients. "Management and its limits" describes the daily management of psychiatric symptoms in both units. "Psychiatry and Adolescent medicine: from opposition to collaboration" describes the different levels at which these disciplines work together and how this cooperation may be evolving. CONCLUSIONS: The complex entanglement intrinsic in EDs of the patients' somatic, psychosocial, psychiatric, and adolescent problems requires collaboration between disciplines, but the modalities of this collaboration are multiple and evolve non-linearly in specialized treatment units. A multilevel approach must be offered, with the degree of collaboration (multidisciplinary, interdisciplinary and transdisciplinary) appropriate to the complexity of each adolescent's issues.


Assuntos
Transtornos da Alimentação e da Ingestão de Alimentos , Psiquiatria , Humanos , Adolescente , Criança , Pacientes Internados , Transtornos da Alimentação e da Ingestão de Alimentos/terapia , Unidades Hospitalares , Atitude do Pessoal de Saúde
3.
Eat Weight Disord ; 27(3): 1229-1233, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34165697

RESUMO

PURPOSE: We describe the case of a severe skin ulcer of the heel in an adolescent girl hospitalised for anorexia nervosa (AN) associated with a severe excessive exercise. METHODS: This case report includes retrospective anamnestic and clinical data from the patient's medical record. A literature review was conducted on the dermatological changes described in AN. CONCLUSION: Severe starving syndrome in AN due to intake restriction and pathological associated behaviours can cause serious somatic complications, including psycho-dermatological lesions. We describe a rare case of a nondiabetic plantar "mal perforant" resulting from multiple risk factors including prolonged undernutrition, excessive exercise, and significant psychiatric comorbidity with self-injury. We suggest that, in this context, one should include a particular attention to the risk of non-visible skin complications reflecting both the AN symptoms severity and the severity of the patient's psychological distress requiring individualised and specialised multidisciplinary approach. LEVEL OF EVIDENCE: Level V, case report.


Assuntos
Anorexia Nervosa , Adolescente , Anorexia Nervosa/complicações , Anorexia Nervosa/psicologia , Comorbidade , Feminino , Humanos , Estudos Retrospectivos , Fatores de Risco
4.
Arch Pediatr ; 29(2): 128-132, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34955300

RESUMO

OBJECTIVES: The aim of our study was to describe clinical presentations, bacteriological results, and therapeutic management in a pediatric population presenting with acute pharyngeal suppuration. A further aim was to identify clinical, bacteriological, and radiological predictors of success associated with exclusive medical treatment. METHOD: A retrospective study was carried out including patients under 18 years of age hospitalized between January 1, 2015 and December 31, 2017 in our center for acute pharyngeal suppuration. We identified three groups of patients: group A, treated with exclusive intravenous antibiotics; group B, surgically treated after 48 h of appropriate antibiotic therapy, due to persistent fever and/or clinical worsening and/or persistence of a collection on follow-up imaging; group C, surgically treated as first-line therapy in association with intravenous antibiotics. A total of 83 patients were included: 36 in group A, 12 in group B, and 35 in group C. These three groups were compared for several variables: age of the patients, polynuclear neutrophil counts, diameter of the collections (the largest diameter found on imaging), duration of antibiotic therapy, delay before return to apyrexia, and hospitalization duration. RESULTS: A neck mass and torticollis were present, respectively, in 48.8 and 47.6% of cases. No breathing difficulties were reported. Streptococcus pyogenes was the most frequently identified microorganism. The average diameter of the collections from patients treated surgically as first-line therapy (group C) was significantly larger than that of the patients treated with antibiotics (group A) (27.89 mm vs. 18.73 mm, respectively, p = 0.0006). All the patients who required surgery despite 48 h of appropriate antibiotic therapy (group B) had collections with diameters greater than or equal to 15 mm. There was no significant difference between the groups concerning hospitalization duration. CONCLUSION: Exclusive medical treatment is associated with a high cure rate, mainly for collections with small diameter. We recommend special attention to patients treated with first-line exclusive intravenous antibiotic therapy and with a collection diameter greater than or equal to 15 mm.


Assuntos
Febre/etiologia , Cervicalgia/etiologia , Espaço Parafaríngeo/microbiologia , Abscesso Retrofaríngeo/microbiologia , Staphylococcus aureus/isolamento & purificação , Streptococcus pyogenes/isolamento & purificação , Supuração/microbiologia , Adolescente , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Criança , Humanos , Pescoço , Abscesso Peritonsilar , Abscesso Retrofaríngeo/terapia , Estudos Retrospectivos , Supuração/tratamento farmacológico , Resultado do Tratamento
5.
J Appl Crystallogr ; 54(Pt 3): 830-838, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-34188614

RESUMO

Small-angle X-ray scattering is widely utilized to study biological macromol-ecules in solution. For samples containing specific (e.g. metal) atoms, additional information can be obtained using anomalous scattering. Here, measuring samples at different energies close to the absorption edges of relevant elements provides specific structural details. However, anomalous small-angle X-ray scattering (ASAXS) applications to dilute macromolecular solutions are challenging owing to the overall low anomalous scattering effect. Here, pilot ASAXS experiments from dilute solutions of ferritin and cobalt-loaded apoferritin are reported. These samples were investigated near the resonance X-ray K edges of Fe and Co, respectively, at the EMBL P12 bioSAXS beamline at PETRA III, DESY. Thanks to the high brilliance of the P12 beamline, ASAXS experiments are feasible on dilute protein solutions, allowing one to extract the Fe- or Co-specific anomalous dispersion terms from the ASAXS data. The data were subsequently used to determine the spatial distribution of either iron or cobalt atoms incorporated into the ferritin/apoferritin protein cages.

6.
Neuropsychiatr Enfance Adolesc ; 69(3): 132-137, 2021 May.
Artigo em Francês | MEDLINE | ID: mdl-33612908

RESUMO

BACKGROUND: The COVID-19 sanitary crisis has imposed a major reorganization of the health care system in France. Lockdown could be a factor in the emergence or deterioration of psychological disorders; it can be even more fragilizing during the specific period of adolescence. The « Maisons des Adolescents ¼ (Teenagers' Houses) had to urgently adjust their practices to provide continuity of care for adolescents suffering from physical or mental disorders. The « Maisons des Adolescents ¼ are pluridisciplinary care centres for adolescents and their families that provide assessments and services for medical, psychological, socio-educational, educational and legal needs. How did care continue for adolescents during lockdown? What adjustments occurred in the « Maisons des Adolescents ¼ during the health crisis? METHODS: This article presents the case of an adolescent who suffered a significant deterioration of her anorexia nervosa during confinement. Through this case, we describe the reorganization of care within the different units (consultations - day hospital - hospitalization unit) of a Parisian « Maison des Adolescents ¼ during the COVID-19 pandemic. FINDINGS: In this service, the rapid implementation of the telemedicine system in the context of the COVID-19 pandemic made possible provision of continuity in care for vulnerable adolescents and families. Based on the existing literature, we discuss the advantages and limitations of telemedicine and the practical issues for the future organization of care for adolescents. PERSPECTIVES: In contrast to pediatric medicine or child psychiatry, there is no protocol describing the application of telemedicine in adolescent medicine and psychiatry. There is an urgent need for further evaluation of the use of telemedicine for this population. This kind of research will improve knowledge about the effectiveness, acceptability and limitations of using a teleconsultation device in adolescent psychiatry in a crisis context. Certain remote care modalities implemented during the sanitary crisis could thus be maintained over time and become routine in the field of adolescent medicine and psychiatry.

7.
Eat Weight Disord ; 26(4): 1271-1275, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-32978756

RESUMO

PURPOSE: We describe a case of severe, prolonged neutropenia in an adolescent girl hospitalized for anorexia nervosa (AN) which occurred during a refeeding procedure in the absence of refeeding syndrome. METHODS: This case report includes retrospective anamnestic, clinical and biological data from the patient's medical record. A literature review was conducted on the haematological changes described in the undernutrition and refeeding periods, and also on recent data for underfeeding syndrome in patients with anorexia nervosa. CONCLUSION: Leuconeutropenia is an adaptive condition observed in undernutrition in AN, usually rapidly and completely reversible in the course of refeeding and weight gain. We describe a rare case of severe, prolonged neutropenia despite appropriate care in the absence of refeeding syndrome and without gelatinous bone marrow transformation. We suggest that neutropenia in adolescent anorexia nervosa could be a stigma of underfeeding syndrome resulting from an overly cautious refeeding strategy. LEVEL OF EVIDENCE: Level V, descriptive study.


Assuntos
Anorexia Nervosa , Neutropenia , Síndrome da Realimentação , Adolescente , Anorexia Nervosa/complicações , Feminino , Humanos , Neutropenia/etiologia , Estudos Retrospectivos , Aumento de Peso
8.
Encephale ; 47(1): 72-78, 2021 Feb.
Artigo em Francês | MEDLINE | ID: mdl-32933763

RESUMO

OBJECTIVES: Psychiatric comorbidities are frequent in anorexia nervosa, with the highest rate of suicidal lethality among psychiatric disorders. Major depressive disorder is one of the most life-threatening comorbidities of anorexia nervosa, exacerbating the risk of suicide, aphagia, and pervasive refusal syndrome. The aim of this study is to conduct a systematic review of studies exploring strategies for the treatment of severe depression in the acute phase of anorexia nervosa in adolescence. METHODS: We conducted a scoping review of the publications dealing with the treatment of depressive comorbidities in adolescents suffering from anorexia nervosa published between 2005 and 2019. An electronic search in Pubmed and Medline for relevant studies used the following keywords adolescent, youth, anorexia nervosa, depress*, suicide*, "melancholic depression", treat*, therapy*, care. Included studies were dealing with 10-18-year-old inpatient or outpatient adolescents presenting an anorexia nervosa complicated by a major depressive disorder. RESULTS: Of 562 studies identified, eight were included in the final sample. Regarding psychiatric treatments, four studies concerned the prescription of antidepressants, one case-study was described a treatment by electroconvulsive therapy and another was dealt with light therapy. Finally, the two last studies evaluated the effect of nutritional treatment on psychiatric symptoms but found no significant direct association between weight gain and improvement of depressive symptoms. DISCUSSION: There is a need to identify faster severe depressive disorders in adolescents with anorexia nervosa in order to provide, along with refeeding, a more intensive treatment of mood symptoms. A multidisciplinary and coordinated approach must be initiated at the beginning of the trouble. There is a need for more systematic studies on the therapeutic approaches of mood disorder comorbidities in adolescents suffering from anorexia nervosa.


Assuntos
Anorexia Nervosa , Transtorno Depressivo Maior , Eletroconvulsoterapia , Adolescente , Anorexia Nervosa/complicações , Anorexia Nervosa/epidemiologia , Anorexia Nervosa/terapia , Antidepressivos/uso terapêutico , Criança , Comorbidade , Transtorno Depressivo Maior/complicações , Transtorno Depressivo Maior/epidemiologia , Transtorno Depressivo Maior/terapia , Humanos
9.
Rev Sci Instrum ; 91(8): 084101, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32872894

RESUMO

Excitation frequencies in the terahertz (THz) range are expected to lead to functionally relevant domain movements within the biological macromolecules such as proteins. The possibility of examining such movements in an aqueous environment is particularly valuable since here proteins are not deprived of any motional degrees of freedom. Small angle x-ray scattering (SAXS) is a powerful method to study the structure and domain movements of proteins in solution. Here, we present a microfluidic cell for SAXS experiments, which is also transparent for THz radiation. Specifically, cell dimensions and material were optimized for both radiation sources. In addition, the polystyrene cell can be 3D printed and easily assembled. We demonstrate the practicality of our design for SAXS measurements on several proteins in solution.

11.
Eur Ann Otorhinolaryngol Head Neck Dis ; 137(2): 131-133, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31653460

RESUMO

INTRODUCTION: Airway injury is a very rare complication of thyroglossal duct cyst surgery in children. The wound is most frequently located at the larynx, due to a confusion between the hyoid bone and the thyroid cartilage. OBSERVATION: This is the first report of a tracheal injury complicating Sistrunk's procedure in a 3 year old child, revealed by respiratory distress. Conservative treatment was suggested, requiring a tracheostomy lasting 49 days, leading to decanulation and complete anatomical and functional recovery. CONCLUSION: This report highlights the specificity of pediatric laryngotracheal anatomy.


Assuntos
Complicações Intraoperatórias , Cisto Tireoglosso/cirurgia , Traqueia/lesões , Pré-Escolar , Feminino , Humanos , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos
12.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(6): 447-454, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31537488

RESUMO

OBJECTIVES: The role of drug-induced sleep endoscopy (DISE) in the management of obstructive sleep apnea/hypopnea syndrome (OSAHS) is not precisely defined in children. The primary objective of this study was to describe DISE-induced revision of airway obstruction site location and the ensuing treatment changes in children with OSAHS. Secondary objectives were to analyze the correlation of number of obstruction sites found on DISE with apnea-hypopnea index (AHI) and with type of OSAHS. MATERIAL AND METHODS: A retrospective single-center study included 31 children (mean age: 5.5±2.6years) undergoing DISE for management of OSAHS between 2015 and 2018. Revisions of airway obstruction site location and in treatment were noted. The correlation of number of obstruction sites with AHI and with type of OSAHS was analyzed. RESULTS: Airway obstruction site location was reconsidered in 77% of children (n=24), modifying treatment in 45.2% (n=14). There was no significant correlation between number of obstruction sites and AHI: Spearman coefficient 0.20 (P=0.26). Patients with type-III OSAHS did not show more obstruction sites than others: respectively, 2.0 versus 1.8 (P=0.40). CONCLUSION: DISE induced significant revision of the location and change in treatment of obstruction sites in children with OSAHS. Systematic implementation, especially in type-I OSAHS, would allow more precise pre-therapeutic classification and treatment adapted to actual airway obstruction.


Assuntos
Anestesia Geral , Endoscopia/métodos , Apneia Obstrutiva do Sono/cirurgia , Criança , Pré-Escolar , Pressão Positiva Contínua nas Vias Aéreas , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Polissonografia , Complicações Pós-Operatórias/diagnóstico , Complicações Pós-Operatórias/cirurgia , Reoperação , Estudos Retrospectivos , Apneia Obstrutiva do Sono/etiologia
13.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(4): 289-294, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31420238

RESUMO

OBJECTIVES: To present the guidelines of the French Society of Otolaryngology-Head and Neck Surgery concerning the use of non-steroidal anti-inflammatory drugs (NSAIDs) in pediatric ENT infections. METHODS: Based on a critical analysis of the medical literature up to November 2016, a multidisciplinary workgroup of 11 practitioners wrote clinical practice guidelines. Levels of evidence were classified according to the GRADE (Grades of Recommendation, Assessment, Development and Evaluation) system: GRADE A, B, C or "expert opinion". The first version of the text was reworked by the workgroup following comments by the 22 members of the reading group. RESULTS: The main recommendations are: NSAIDs are indicated at analgesic doses (e.g. 20-30 mg/kg/day for ibuprofen) in combination with paracetamol (acetaminophen) in uncomplicated pediatric ENT infections (acute otitis media, tonsillitis, upper respiratory infections, and maxillary sinusitis) if: o pain is of medium intensity (visual analogue scale (VAS) score 3-5 or "Evaluation Enfant Douleur" (EVENDOL) child pain score 4-7) and insufficiently relieved by first-line paracetamol (residual VAS≥3 or EVENDOL≥4); o pain is moderate to intense (VAS 5-7 or EVENDOL 7-10). When combined, paracetamol and ibuprofen are ideally taken simultaneously every 6h. It is recommended: (1) o not to prescribe NSAIDs in severe or complicated pediatric ENT infections; (2) o to suspend NSAIDs treatment in case of unusual clinical presentation of the infection (duration or symptoms); (3) o not to prescribe NSAIDs for more than 72h.


Assuntos
Anti-Inflamatórios não Esteroides/administração & dosagem , Pediatria , Acetaminofen/uso terapêutico , Analgésicos não Narcóticos/uso terapêutico , Anti-Inflamatórios não Esteroides/efeitos adversos , Contraindicações de Medicamentos , Relação Dose-Resposta a Droga , Interações Medicamentosas , Quimioterapia Combinada , Empiema Subdural/tratamento farmacológico , França , Humanos , Linfadenite/tratamento farmacológico , Meningite/tratamento farmacológico , Otite/tratamento farmacológico , Medição da Dor , Infecções Respiratórias/tratamento farmacológico , Sociedades Médicas
14.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(5): 385-391, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31221590

RESUMO

OBJECTIVES: The authors present the guidelines of the French Society of Otorhinolaryngology - Head and Neck Surgery (Société française d'oto-rhino-laryngologie et de chirurgie de la face et du cou - SFORL) on the indications for cochlear implantation in children. METHODS: A multidisciplinary work group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience. They were then read over by an editorial group independent of the work group. The guidelines were graded as A, B, C or expert opinion, by decreasing level of evidence. RESULTS: The SFORL recommends that children with bilateral severe/profound hearing loss be offered bilateral cochlear implantation, with surgery before 12months of age. In sequential bilateral cochlear implantation in children with severe/profound hearing loss, it is recommended to reduce the interval between the two implants, preferably to less than 18months. The SFORL recommends encouraging children with unilateral cochlear implants to wear contralateral hearing aids when residual hearing is present, and recommends assessing perception with hearing-in-noise tests. It is recommended that the surgical technique should try to preserve the residual functional structures of the inner ear as much as possible.


Assuntos
Implantes Cocleares , Fatores Etários , Percepção Auditiva , Transtorno do Espectro Autista , Encéfalo/diagnóstico por imagem , Surdez/cirurgia , França , Glucocorticoides/uso terapêutico , Auxiliares de Audição , Humanos , Lactente , Imageamento por Ressonância Magnética , Qualidade de Vida , Sociedades Médicas , Testes de Função Vestibular
15.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(3): 193-197, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31005457

RESUMO

The authors present the guidelines of the French Society of ENT and Head and Neck Surgery (SFORL) regarding indications for cochlear implantation in adults. After a literature review by a multidisciplinary workgroup, guidelines were drawn up based on retrieved articles and group-members' experience, then read over by an independent reading group to edit the final version. Guidelines were graded A, B, C or "expert opinion" according to decreasing level of evidence. There is no upper age limit to cochlear implantation in the absence of proven dementia and if autonomy is at least partial. Bilateral implantation may be proposed if unilateral implantation fails to provide sufficiently good spatial localization, speech perception in noise and quality of life, and should be preceded by binaural hearing assessment. Rehabilitation by acoustic and electrical stimulation may be proposed when low-frequency hearing persists. Quality of life should be assessed before and after implantation.


Assuntos
Implante Coclear/normas , Otolaringologia/normas , Idoso , Implante Coclear/métodos , Disfunção Cognitiva/etiologia , Disfunção Cognitiva/reabilitação , França , Perda Auditiva/complicações , Perda Auditiva/reabilitação , Humanos , Pessoa de Meia-Idade , Qualidade de Vida , Sociedades Médicas
16.
Eur Ann Otorhinolaryngol Head Neck Dis ; 136(4): 235-240, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30880036

RESUMO

OBJECTIVES: Using respiratory polygraphy (RP) in children for diagnosis of obstructive sleep apnea/hypopnea syndrome (OSAHS) can be challenging in terms of device acceptance and sensor displacement. Automatic analysis of respiratory events has never been evaluated in a pediatric population. The primary objective of this study was to determine the feasibility of pediatric RP in routine ENT department practice. The secondary objective was to evaluate the reliability of the automatic detection of obstructive and central respiratory events in children. METHODS: A single-center retrospective study included 50 children (32 boys, 18 girls; mean age 5.5±2.3years) undergoing overnight RP in an ENT department between January and August 2016 for suspected OSAHS. Manual detection of respiratory events was performed by one ENT specialist experienced in RP interpretation, and compared to automatic analysis. RESULTS: The device was well accepted in 98% of cases. Overall signal quality was>50% in 76% of cases, with average signal quality of 70.8% (86% in patients>3 yrs, 25% in patients<3 yrs, P=0.0013). There was no significant correlation between manual and automatic analyses, except for central apnea (Spearman coefficient 0.43; P=0.0015). One hundred percent of patients presented OSAHS according to automatic detection, compared to 32% according to manual detection (P<0.005). CONCLUSIONS: Pediatric RP is feasible in routine practice in an ENT department, with good acceptance and satisfactory signal quality in children older than 3years. Automatic analysis of respiratory events in children is unreliable, except for central apnea.


Assuntos
Polissonografia , Síndromes da Apneia do Sono/diagnóstico , Criança , Pré-Escolar , Estudos de Viabilidade , Feminino , Humanos , Masculino , Estudos Retrospectivos
17.
Biomaterials ; 192: 612-620, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30502967

RESUMO

mRNA pharmaceuticals represent a new class of therapeutics, with applications, in cancer vaccination, tumour therapy and protein substitution. Formulations are required to deliver messenger RNA (mRNA) to the target sites where induction of genetic transfection following receptor mediated cell uptake & translation is required. In the current study, the cationic polysaccharide diethylaminoethylen (DEAE) - Dextran was selected as a model system carrier for the investigation of polyplex nanoparticle formation together with mRNA as a function of the molar ratio of the components. The structure of the mRNA/Dextran colloids was investigated as a function of the polymer-to-mRNA ratio and correlated with the biological activity determined by cellular transfection with luciferase coding mRNA. Dynamic light scattering (DLS), small angle x-ray scattering (SAXS), and small angle neutron scattering (SANS) with deuterium contrast variation were used to achieve structural insight into the systems. Similarly to previously investigated lipid based systems, colloidally stable particles with confined size were obtained with either excess of positive or negative charge. Highest activity was obtained with positive charge excess. From the scattering experiments information on the internal organization inside the polymer/mRNA systems was derived. Indication for the presence of structural elements in the length scale of ten to 20 nm were found in the excess of dextran, which could be due to either excess or particulate polymer. Information on the molecular organization of the mRNA nanoparticle products may provide a valuable basis for defining critical quality attributes of drug products for pharmaceutical application.


Assuntos
DEAE-Dextrano/química , Sistemas de Liberação de Medicamentos , RNA Mensageiro/química , Células Dendríticas/metabolismo , Heparina/metabolismo , Humanos , Tamanho da Partícula , Espalhamento a Baixo Ângulo , Eletricidade Estática , Difração de Raios X
19.
Sci Rep ; 7(1): 16783, 2017 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-29196752

RESUMO

Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC. This comprehensive screening yielded an overall diagnostic rate of 48%, equally distributed between DFNB1 (24%) and the other genes (24%). Pathogenic genotypes were identified in 19 different genes, with a high prevalence of GJB2, STRC, MYO15A, OTOF, TMC1, MYO7A and USH2A. Involvement of an Usher gene was reported in 16% of the genotyped cohort. Four de novo variants were identified. This study highlights the need to develop several molecular approaches for efficient molecular diagnosis of hearing loss, as this is crucial for genetic counselling, audiological rehabilitation and the detection of syndromic forms.


Assuntos
Conexinas/genética , Variações do Número de Cópias de DNA , Perda Auditiva/diagnóstico , Sequenciamento de Nucleotídeos em Larga Escala/métodos , População Branca/genética , Estudos de Coortes , Simulação por Computador , Conexina 26 , Diagnóstico Precoce , França , Predisposição Genética para Doença , Testes Genéticos/métodos , Perda Auditiva/genética , Humanos , Masculino , Mutação , Sensibilidade e Especificidade , Análise de Sequência de DNA/métodos
20.
Eur Ann Otorhinolaryngol Head Neck Dis ; 134(6): 373-375, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28365219

RESUMO

STUDY OBJECTIVE: To evaluate the efficacy of oral melatonin to induce sedation (natural sleep) while measuring auditory brainstem responses (ABR) in children with suspected hearing loss by calculating the ABR success rate with the use of melatonin, the percentage of children in whom sleep was induced by melatonin and the time required to perform complete ABR testing. MATERIAL AND METHODS: Twenty-nine children aged 1 to 6 years were included in this prospective study. ABR testing was performed as a day-case procedure in a single room ensuring suitable sleeping conditions. Five milligrams of melatonin (or 10mg in children over the age of 6 years) were administered orally before electrode positioning. An additional 5 milligrams were administered if the child failed to sleep after 30minutes. RESULTS: ABR was performed with melatonin in 58 ears: complete ABR testing was performed in both ears in 19 children (65%), corresponding to 38 examinations; only one ear was tested in 7 children (24.2%), corresponding to 7 examinations; and ABR testing could not be performed in 3 children (10.3% failure rate). Good quality sleep was obtained in 17 children (59%), brief sleep was obtained in 4 children (14%), who nevertheless remained calm throughout the examination and 8 children (27%) did not fall asleep. The mean sleep-onset time after administration of melatonin was 41minutes with a mean sleep time of 33minutes and a mean examination time of 52minutes after the first dose of melatonin. A complete examination therefore took an average of 93minutes. CONCLUSION: The use of melatonin allowed partial or complete ABR testing in 90% of children. This method is effective, but it requires adapted facilities to receive the child and the child's parents.


Assuntos
Sedação Profunda/métodos , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva/diagnóstico , Hipnóticos e Sedativos/administração & dosagem , Melatonina/administração & dosagem , Sono/efeitos dos fármacos , Administração Oral , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos , Reprodutibilidade dos Testes , Fatores de Tempo
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