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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
2.
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
3.
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
4.
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
5.
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.

6.
Occup Med (Lond) ; 66(2): 171-3, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26416845

RESUMO

We report a case of acquired lymphocytic choriomeningitis virus (LCMV) infection due to an accidental percutaneous inoculation of LCMV at work. The injured worker developed a flu-like syndrome, followed by pericarditis and meningoencephalitis. Seroconversion was confirmed by ELISA. The patient made a complete recovery. We review measures undertaken to prevent a similar event and propose a follow-up protocol in the event of accidental LCMV exposure.


Assuntos
Acidentes de Trabalho , Antivirais/administração & dosagem , Coriomeningite Linfocítica/tratamento farmacológico , Vírus da Coriomeningite Linfocítica/patogenicidade , Ferimentos Penetrantes Produzidos por Agulha/virologia , Exposição Ocupacional/efeitos adversos , Ribavirina/administração & dosagem , Adulto , Humanos , Coriomeningite Linfocítica/etiologia , Coriomeningite Linfocítica/virologia , Masculino , Profilaxia Pós-Exposição , Guias de Prática Clínica como Assunto , Resultado do Tratamento
7.
Encephale ; 42(6): 529-534, 2016 Dec.
Artigo em Francês | MEDLINE | ID: mdl-27842974

RESUMO

INTRODUCTION: Few studies on social skills training essentially based on ABA techniques are dedicated to children with autism aged 5 to 10 years whereas autistic disorders can be diagnosed in very early childhood. Generally, the main criticisms about these social skills training are: shortness of programs (around 20 sessions), no manual with precise descriptions of sessions and used techniques, and a lack of generalization of the learned skills in everyday life. OBJECTIVES: To describe the evolution (before/after) of symptoms and sociocommunicative skills of 7 children with autism and no mental retardation (mean age=7.08) who participated in 90 sessions (during 3 years) in a learning group of communication and socialization (or LGCS). METHOD: To develop these sessions, we referred to intellectual and verbal levels obtained by the children on The Wechsler Intelligence Scales. We proposed activities such as open discussion, telling about events or vacations, learning of and communicative social rules, social games, outdoor exercises at home or in parks/shops/supermarkets/restaurants with known/unknown children/adults/sellers. To target the social and communicative skills, we also referred to their intellectual level and to Assessment of basic language and learning skills (ABBLS). To practice these sessions, we referred to: (1) TEACCH cognitive ergonomics principles (Treatment and education of autistic and related communication handicapped children developed by Schopler); and especially (2) ABA techniques (Applied behavior analysis) which are rarely mentioned as such. In particular, we used techniques such as: (a) concrete reinforcements which were frequently evaluated; (b) precise levels of verbal incentives and (c) error corrections. To measure the changes, we assessed children with psychometric tests before and after 90 sessions (ADOS and VABS). RESULTS: The scores show significant improvements in autistic symptoms related to communication (ADOS, P=0.03) and significant improvements in both socialization and communication domains (VABS, P=0.00). From a symptomatic point of view (ADOS), we clinically observe better conversation skills and more social initiatives. About socialization and communication behaviors, parents reported (VABS): better listening, better verbal expression, more social relationships and a start of friendship for most of the children. CONCLUSION: This three-year longitudinal follow-up is the first known study about the evolution of children with autistic disorders after a great number of sessions of social skills training. It shows that it is possible to adapt social skills training to young children. In addition, our program and our results (VABS) show clear examples of generalization which is targeted as a weakness in the specialized studies. However, the absence of a control group and of a base line strongly limit our results in terms of effectiveness.


Assuntos
Transtorno Autístico/psicologia , Transtorno Autístico/terapia , Psicoterapia/métodos , Habilidades Sociais , Adolescente , Criança , Comunicação , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Psicometria , Socialização , Resultado do Tratamento , Escalas de Wechsler
8.
Occup Med (Lond) ; 65(9): 739-45, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26276758

RESUMO

BACKGROUND: Vaccination of health care workers (HCW) against seasonal influenza (SI) is recommended but vaccination rate rarely reach >30%. Vaccination coverage against 2009 pandemic influenza (PI) was 52% in our hospital, whilst a new policy requiring unvaccinated HCW to wear a mask during patient care duties was enforced. AIMS: To investigate the determinants of this higher vaccination acceptance for PI and to look for an association with the new mask-wearing policy. METHODS: A retrospective cohort study, involving HCW of three critical departments of a 1023-bed, tertiary-care university hospital in Switzerland. Self-reported 2009-10 SI and 2009 PI vaccination statuses, reasons and demographic data were collected through a literature-based questionnaire. Descriptive statistics, uni- and multivariate analyses were then performed. RESULTS: There were 472 respondents with a response rate of 54%. Self-reported vaccination acceptance was 64% for PI and 53% for SI. PI vaccination acceptance was associated with being vaccinated against SI (OR 9.5; 95% CI 5.5-16.4), being a physician (OR 7.7; 95% CI 3.1-19.1) and feeling uncomfortable wearing a mask (OR 1.7; 95% CI 1.0-2.8). Main motives for refusing vaccination were: preference for wearing a surgical mask (80% for PI, not applicable for SI) and concerns about vaccine safety (64%, 50%) and efficacy (44%, 35%). CONCLUSIONS: The new mask-wearing policy was a motivation for vaccination but also offered an alternative to non-compliant HCW. Concerns about vaccine safety and efficiency and self-interest of health care workers are still main determinants for influenza vaccination acceptance. Better incentives are needed to encourage vaccination amongst non-physician HCW.


Assuntos
Pessoal de Saúde/estatística & dados numéricos , Hospitais , Vacinas contra Influenza , Influenza Humana/prevenção & controle , Máscaras/estatística & dados numéricos , Doenças Profissionais/prevenção & controle , Exposição Ocupacional/prevenção & controle , Pandemias/prevenção & controle , Vacinação , Adulto , Atitude do Pessoal de Saúde , Feminino , Política de Saúde , Humanos , Influenza Humana/transmissão , Masculino , Motivação , Doenças Profissionais/epidemiologia , Exposição Ocupacional/estatística & dados numéricos , Estudos Retrospectivos , Inquéritos e Questionários , Suíça/epidemiologia
9.
J Neurol ; 271(9): 6038-6044, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39030458

RESUMO

INTRODUCTION: Ubiquitin C-terminal hydrolase L1 (UCHL1) has been associated with a severe, complex autosomal recessive spastic paraplegia (HSP79) [1] [2] [3] [4]. More recently, UCHL1 loss of function (LoF) variants have been associated to an autosomal dominant disease characterized by late-onset spastic ataxia, neuropathy, and frequent optic atrophy [5]. METHODS: Routine clinical care whole-genome (WGS) and exome (ES) sequencing. RESULTS: We present three families with autosomal dominant UCHL1-related disorder. The clinical phenotype mainly associated optic atrophy, mixed cerebellar and sensory ataxia, and possible hearing loss. We delineated two major phenotypes, even within the same family: (1) juvenile severe optic atrophy followed by a later-onset ataxia, or (2) late-onset ataxia with asymptomatic or mild optic atrophy. The families harboured three novel heterozygous variants in UCHL1: two loss of function (p.Lys115AsnfsTer40; c.171_174 + 7del11), and one missense (p.Asp176Asn) involving the catalytic site of the protein and potentially altering the adjacent splice site. DISCUSSION: We confirm the existence of dominantly inherited UCHL1 pathogenic variants. We describe a considerable intrafamilial phenotypic variability, with two main phenotypes. Optic atrophy was consistently present, but with varying degrees of severity. Neither delayed motor or intellectual development, nor dysmorphic features were part of the dominant phenotype in comparison with the autosomal recessive form. The molecular mechanism appears to be haploinsufficiency. UCHL1 monoallelic variants should therefore be considered in any case of early-onset optic atrophy or in late-onset complex ataxic syndrome with asymptomatic optic atrophy.


Assuntos
Ataxia , Linhagem , Fenótipo , Ubiquitina Tiolesterase , Humanos , Ubiquitina Tiolesterase/genética , Masculino , Feminino , Adulto , Ataxia/genética , Ataxia/fisiopatologia , Pessoa de Meia-Idade , Mutação , Atrofia Óptica/genética
10.
Genes Immun ; 14(1): 35-41, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23151488

RESUMO

We have previously described SEG/Pas as the first mouse inbred strain able to survive subcutaneous injection of virulent Yersinia pestis, the agent of plague, and we identified Yprl1, Yprl2 and Yprl3 as three quantitative trait loci (QTLs) controlling this exceptional phenotype in females from a backcross between SEG/Pas and C57BL/6 strains. We have now developed congenic strains to further characterize the extent and effect of these genomic regions. In this study, we confirm the importance of two of these regions, both in males and females, while the third one may well be a spurious association. We show that no genomic region alone is able to increase the survival of C57BL/6 mice, but that C57BL/6 mice carrying both Yprl2 and Yprl3 exhibit intermediate resistance. Each of these two QTLs contains at least two subregions, which are required to increase survival. Finally, through the analysis of congenic strains in an F1 background, we establish the mode of inheritance of the SEG-derived resistance alleles. Altogether, this study has clarified and enhanced our understanding of the genetic architecture of resistance to plague in SEG/Pas mice.


Assuntos
Resistência à Doença/genética , Peste/genética , Locos de Características Quantitativas , Alelos , Animais , Progressão da Doença , Feminino , Masculino , Camundongos , Camundongos Congênicos , Camundongos Endogâmicos C57BL , Peste/imunologia , Peste/microbiologia , Yersinia pestis
11.
Clin Genet ; 82(5): 433-8, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21895633

RESUMO

Bilateral sensorineural hearing loss (HL), classically described as mild to severe with a typically down-sloping audiometric configuration, is the earliest symptom occurring in Usher syndrome type II (USH2). Audiological findings were analyzed in a total of 100 USH2 patients (92 families) divided into three groups according to the gene involved: 88 USH2A, 10 GPR98 and 2 DFNB31 patients. A fine analysis of audiograms was performed (pure tone average, degree of severity, configuration). The median age of HL diagnosis was 5 years (range 8 months-31 years) although the median age at USH2 diagnosis was 34.5 (range 8-76). Moderate HL was predominant (76%) and a gently down-sloping configuration characterized most audiograms (66%). No statistically significant difference was found between USH2A and GPR98 patients but a tendency was clearly noted for more GPR98 patients to present with severe hearing loss. It is not possible to predict the mutated gene from audiograms.


Assuntos
Audiologia/métodos , Proteínas da Matriz Extracelular/genética , Perda Auditiva Neurossensorial/diagnóstico , Adolescente , Adulto , Audiometria/métodos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Genótipo , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Masculino , Proteínas de Membrana/genética , Mutação , Receptores Acoplados a Proteínas G/genética , Adulto Jovem
12.
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
13.
Genes Immun ; 12(1): 23-30, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20861861

RESUMO

Laboratory mice are well known to be highly susceptible to virulent strains of Yersinia pestis in experimental models of bubonic plague. We have found that Mus spretus-derived SEG/Pas (SEG) mice are exceptionally resistant to virulent CO92 and 6/69 wild type strains. Upon subcutaneous injection of 10(2) colony-forming units (CFU), 90% of females and 68% of males survived, compared with only an 8% survival rate for both male and female C57BL/6 mice. Furthermore, half of the SEG mice survived a challenge of up to 10(7) CFU. The time required for mortality was similar between B6 and SEG, suggesting that survival is dependent on early rather than late processes. The analysis of 322 backcross mice identified three significant quantitative trait loci (QTLs) on chromosomes 3, 4 and 6, with dominant SEG protective alleles. Each QTL increased the survival rate by approximately 20%. The three QTLs function additively, thereby accounting for 67% of the difference between the parental phenotypes. Mice heterozygous for the three QTLs were just as resistant as SEG mice to Y. pestis challenge. The SEG strain therefore offers an invaluable opportunity to unravel mechanisms and underlying genetic factors of resistance against Y. pestis infection.


Assuntos
Imunidade Inata , Camundongos/imunologia , Locos de Características Quantitativas , Yersinia pestis/patogenicidade , Animais , Feminino , Masculino , Camundongos/microbiologia , Especificidade da Espécie
14.
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.

15.
J Med Genet ; 46(4): 281-6, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19357118

RESUMO

BACKGROUND: Primary ciliary dyskinesia (PCD) is characterised by recurrent infections of the upper respiratory airways (nose, bronchi, and frontal sinuses) and randomisation of left-right body asymmetry. To date, PCD is mainly described with autosomal recessive inheritance and mutations have been found in five genes: the dynein arm protein subunits DNAI1, DNAH5 and DNAH11, the kinase TXNDC3, and the X-linked retinitis pigmentosa GTPase regulator RPGR. METHODS: We screened 89 unrelated individuals with PCD for mutations in the coding and splice site regions of the gene DNAH5 by denaturing high performance liquid chromatography (DHPLC) and sequencing. Patients were mainly of European origin and were recruited without any phenotypic preselection. RESULTS: We identified 18 novel (nonsense, splicing, small deletion and missense) and six previously described mutations. Interestingly, these DNAH5 mutations were mainly associated with outer + inner dyneins arm ultrastructural defects (50%). CONCLUSION: Overall, mutations on both alleles of DNAH5 were identified in 15% of our clinically heterogeneous cohort of patients. Although genetic alterations remain to be identified in most patients, DNAH5 is to date the main PCD gene.


Assuntos
Síndrome de Kartagener/genética , Mutação , Processamento Alternativo , Dineínas do Axonema , Cromatografia Líquida de Alta Pressão/métodos , Códon sem Sentido , Estudos de Coortes , Análise Mutacional de DNA , Dineínas , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Síndrome de Kartagener/patologia , Masculino , Mutação de Sentido Incorreto , Seleção de Pacientes , Fenótipo , Polimorfismo de Nucleotídeo Único , Deleção de Sequência
16.
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
17.
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.

18.
Trends Biochem Sci ; 26(9): 539-44, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11551790

RESUMO

ABC (ATP-binding cassette) transporters and helicases are large superfamilies of seemingly unrelated proteins, whose functions depend on the energy provided by ATP hydrolysis. Comparison of the 3D structures of their nucleotide-binding domains reveals that, besides two well-characterized ATP-binding signatures, the folds of their nucleotide-binding sites are similar. Furthermore, there are striking similarities in the positioning of residues thought to be important for ATP binding or hydrolysis. Interestingly, structures have recently been obtained for two ABC proteins that are not involved in transport activities, but that have a function related to DNA modification. These ABC proteins, which contain a nucleotide-binding site akin to those of typical ABC transporters, might constitute the missing link between the two superfamilies.


Assuntos
Transportadores de Cassetes de Ligação de ATP/química , Transportadores de Cassetes de Ligação de ATP/metabolismo , Trifosfato de Adenosina/metabolismo , DNA Helicases/química , DNA Helicases/metabolismo , Motivos de Aminoácidos , Sítios de Ligação , Hidrólise , Conformação Proteica
19.
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
20.
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
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