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1.
Acta Paediatr ; 112(12): 2601-2610, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37786287

RESUMO

AIM: We aimed to investigate the developmental outcome of children with Robin sequence (RS) for whom continuous positive airway pressure was the main strategy to release upper airway obstruction. METHODS: We included children with isolated RS or RS associated with Stickler syndrome who were aged 15 months to 6 years. We used the French version of the Child Development Inventory and calculated the developmental quotient (DQ) for eight different domains and the global DQ (DQ-global). We searched for determinants of risk of delay. RESULTS: Of the 87 children, for 71%, the developmental evolution was within the norm (DQ-global ≥86 or ≥-1 SD), 29% were at high risk of delay (DQ-global <86 or <-1 SD), and only 3% were at very high risk of delay (DQ-global <70 or <-2 SD). The DQs for expressive language and language comprehension were lower in our study population than the general population, but an improvement was noticed with the children's growth. CONCLUSION: Risk of a developmental delay was not greater for children with the most severe respiratory phenotype than the others. Children whose mothers had low education levels were more at risk than the others.


Assuntos
Perda Auditiva Neurossensorial , Síndrome de Pierre Robin , Feminino , Humanos , Criança , Lactente , Síndrome de Pierre Robin/complicações , Síndrome de Pierre Robin/terapia , Paris , Desenvolvimento Infantil , Mães
2.
Am J Otolaryngol ; 44(2): 103749, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36577169

RESUMO

INTRODUCTION: Bilateral choanal atresia (CA) is a rare congenital anomaly, that causes neonatal respiratory distress. No consensus exists regarding the most appropriate surgical approach in low-birth weight preterm infants. CASE REPORT: We present (with video) the case of a male born at 29 weeks' gestation, 1200 g, affected by bilateral CA. He was successfully treated with an endoscopic transnasal approach performed on day 4 of life which allowed a very early extubation. Otologic instruments and 2.7 mm wide endoscope were used to be able to operate in very narrow nasal cavities. Thulium LASER® was used to limit bleeding. At the follow-up visit, four months after surgery, the neochoana was widely patent. DISCUSSION: In low-birth weight preterm infants, endoscopic transnasal surgery (ETS) may be considered technically not feasible or with a high risk of early restenosis. With early ETS, we were able to avoid the morbidity of a prolonged intubation and sedation. CONCLUSION: Bilateral CA is a life threatening and challenging clinical entity, particularly difficult to treat in low-birth preterm infants. Early surgery to reduce intubation and sedation is preferable, but requires experienced teams with a surgical technique and instruments tailored to the narrowness of the nasal cavity.


Assuntos
Atresia das Cóanas , Lactente , Humanos , Recém-Nascido , Masculino , Atresia das Cóanas/cirurgia , Peso ao Nascer , Resultado do Tratamento , Recém-Nascido Prematuro , Nariz/cirurgia , Endoscopia/métodos , Stents
3.
Am J Med Genet A ; 188(7): 1964-1971, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35278041

RESUMO

The relationship between neurofibromatosis type 1 (NF1) and sleep-disordered breathing (SDB) has not been widely studied. The aim of the study was to analyze SDB in children with NF1 of the respiratory system. All children with NF1 followed between September 2008 and July 2020 who had a respiratory polygraphy (RP) were included. The clinical charts, cerebral and cervical magnetic resonance imaging (MRI), and RP were analyzed. Twenty-two patients (11 girls, median age at RP 8.3 [0.2-18.2] years) were included in the study. Nine patients (41%) had a NF1 involvement of the upper airways, 13 (59%) patients of the central nervous system (CNS), the cranial nerves (CN) and/or medulla, and 17 (77%) patients had a hypertrophy of the adenoids and/or tonsils. Five patients were treated with Continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) before their first evaluation because of severe obstructive sleep apnea (OSA). Accordingly, 10 (45%) patients had no OSA, one (5%) mild OSA, 2 (9%) moderate OSA, and nine (41%) severe OSA. None of the patients had central sleep apnea. Despite upper airway surgery, three patients required CPAP, two could be weaned and one died after a switch to tracheostomy. None of the patients treated with CPAP/NIV could be weaned, one patient required tracheostomy. Neither the clinical nor the MRI findings were able to predict OSA on a RP. The prevalence of OSA in NF1 is high, regardless of the nature of airway obstruction and the clinical and MRI findings, underlining the value of a systematic RP. CPAP may reduce the need of tracheostomy.


Assuntos
Neurofibromatose 1 , Síndromes da Apneia do Sono , Apneia do Sono Tipo Central , Apneia Obstrutiva do Sono , Criança , Pressão Positiva Contínua nas Vias Aéreas/métodos , Feminino , Humanos , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/terapia , Síndromes da Apneia do Sono/diagnóstico , Síndromes da Apneia do Sono/epidemiologia , Síndromes da Apneia do Sono/terapia , Apneia do Sono Tipo Central/diagnóstico , Apneia do Sono Tipo Central/epidemiologia , Apneia do Sono Tipo Central/etiologia , Apneia Obstrutiva do Sono/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia
4.
Eur J Pediatr ; 181(2): 647-652, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34498170

RESUMO

To assess the quantitative and qualitative impact of the COVID-19 lockdown on pediatric otolaryngology emergency activity. A retrospective study was conducted in a pediatric otolaryngology tertiary care center. Emergency activity during the lockdown period from March 17 to May 11, 2020, was compared to the 2019 and 2018 averages for the same period. Study data included a number of emergency consultations and the number and type of surgical procedures: infection management, endoscopic airway procedure, and post-tonsillectomy hemorrhage. Only 350 children were referred to the pediatric otolaryngology emergencies in our center during the lockdown, compared to 761 on the same period the year before (- 54%); 62 emergency surgeries were performed, compared to 93 (- 33%). The ratio between emergency surgeries and consultations was 18% in 2020, versus 12% previously (p = 0.014). The number of surgical procedures for infectious diseases decreased (- 68%), at 16% of surgical emergencies in 2020 compared to 33% previously (p = 0.017). In 2020, 52 emergency endoscopies were performed, versus 59 previously (- 12%), 27% being performed for suspected tracheobronchial or esophageal foreign bodies, compared to 66% in previous years (p < 0.0001). No post-tonsillectomy hemorrhages were managed in 2020.Conclusion: The COVID-19 lockdown changed pediatric ENT emergency activity quantitatively and also qualitatively. What is Known: • SARS-CoV-2 pandemic impacted pediatric ENT emergency activity quantitatively and qualitatively. What is New: • here was a 54% decrease in pediatric ENT emergency consultation and 33% decrease in emergency ENT surgeries. • Rates of surgery for infection of whatever type decreased by 68%.


Assuntos
COVID-19 , Otolaringologia , Criança , Controle de Doenças Transmissíveis , Serviço Hospitalar de Emergência , Humanos , Estudos Retrospectivos , SARS-CoV-2
5.
Am J Med Genet A ; 185(7): 2108-2118, 2021 07.
Artigo em Inglês | MEDLINE | ID: mdl-33908178

RESUMO

Sleep-disordered breathing (SDB) is common in patients with skeletal dysplasias. The aim of our study was to analyze SDB and respiratory management in children with rare skeletal dysplasias. We performed a retrospective analysis of patients with spondyloepiphyseal dysplasia congenita (SEDC), metatropic dysplasia (MD), spondyloepimetaphyseal dysplasia (SEMD), acrodysostosis (ADO), geleophysic dysplasia (GD), acromicric dysplasia (AD), and spondylocostal dysplasia (SCD) between April 2014 and October 2020. Polygraphic data, clinical management, and patients' outcome were analyzed. Thirty-one patients were included (8 SEDC, 3 MD, 4 SEMD, 1 ADO, 4 GD, 3 AD, and 8 SCD). Sixteen patients had obstructive sleep apnea (OSA): 11 patients (2 with SEDC, 1 with SEMD, 1 with ADO, 1 with GD, 2 with AD, and 4 with SCD) had mild OSA, 2 (1 SEMD and 1 GD) had moderate OSA, and 3 (1 SEDC, 1 MD, 1 SEMD) had severe OSA. Adenotonsillectomy was performed in one patient with SCD and mild OSA, and at a later age in two other patients with ADO and AD. The two patients with moderate OSA were treated with noninvasive ventilation (NIV) because of nocturnal hypoxemia. The three patients with severe OSA were treated with adenotonsillectomy (1 SEDC), adeno-turbinectomy and continuous positive airway pressure (CPAP; 1 MD), and with NIV (1 SEMD) because of nocturnal hypoventilation. OSA and/or alveolar hypoventilation is common in patients with skeletal dysplasias, underlining the importance of systematic screening for SDB. CPAP and NIV are effective treatments for OSA and nocturnal hypoventilation/hypoxemia.


Assuntos
Disostoses/congênito , Deficiência Intelectual/terapia , Osteocondrodisplasias/congênito , Costelas/anormalidades , Síndromes da Apneia do Sono/terapia , Apneia Obstrutiva do Sono/terapia , Coluna Vertebral/anormalidades , Adenoidectomia , Adolescente , Adulto , Criança , Pré-Escolar , Pressão Positiva Contínua nas Vias Aéreas/métodos , Disostoses/diagnóstico por imagem , Disostoses/patologia , Disostoses/terapia , Feminino , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/patologia , Masculino , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/patologia , Osteocondrodisplasias/terapia , Polissonografia , Costelas/diagnóstico por imagem , Costelas/patologia , Síndromes da Apneia do Sono/diagnóstico por imagem , Síndromes da Apneia do Sono/patologia , Apneia Obstrutiva do Sono/diagnóstico por imagem , Apneia Obstrutiva do Sono/patologia , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/patologia , Tonsilectomia , Resultado do Tratamento , Adulto Jovem
6.
Am J Hum Genet ; 101(6): 1006-1012, 2017 Dec 07.
Artigo em Inglês | MEDLINE | ID: mdl-29198720

RESUMO

Leber congenital amaurosis (LCA) is a neurodegenerative disease of photoreceptor cells that causes blindness within the first year of life. It occasionally occurs in syndromic metabolic diseases and plurisystemic ciliopathies. Using exome sequencing in a multiplex family and three simplex case subjects with an atypical association of LCA with early-onset hearing loss, we identified two heterozygous mutations affecting Arg391 in ß-tubulin 4B isotype-encoding (TUBB4B). Inspection of the atomic structure of the microtubule (MT) protofilament reveals that the ß-tubulin Arg391 residue contributes to a binding pocket that interacts with α-tubulin contained in the longitudinally adjacent αß-heterodimer, consistent with a role in maintaining MT stability. Functional analysis in cultured cells overexpressing FLAG-tagged wild-type or mutant TUBB4B as well as in primary skin-derived fibroblasts showed that the mutant TUBB4B is able to fold, form αß-heterodimers, and co-assemble into the endogenous MT lattice. However, the dynamics of growing MTs were consistently altered, showing that the mutations have a significant dampening impact on normal MT growth. Our findings provide a link between sensorineural disease and anomalies in MT behavior and describe a syndromic LCA unrelated to ciliary dysfunction.


Assuntos
Amaurose Congênita de Leber/genética , Microtúbulos/genética , Tubulina (Proteína)/genética , Adulto , Sítios de Ligação/genética , Células Cultivadas , Criança , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Microtúbulos/metabolismo , Pessoa de Meia-Idade , Mutação de Sentido Incorreto/genética , Células Fotorreceptoras/metabolismo , Tubulina (Proteína)/metabolismo , Sequenciamento do Exoma
7.
Paediatr Anaesth ; 30(4): 435-445, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31995659

RESUMO

BACKGROUND: Knowledge about airway dimensions during child growth is of paramount importance for pediatric clinical practice. Decisions about airway management in children are based on relatively limited, imprecise, or incomplete data about airway size. AIMS: The aim of this work was to determine the anatomical development and size of airway structures from birth to adolescence using high-resolution computed tomography scans and to study the correlation between airway measurements and biometric data. METHODS: We conducted a retrospective study of all high-resolution computed tomography scans including the respiratory tract, performed in our tertiary pediatric center (for reasons unrelated to airway symptoms) between June 1, 2016, and October 15, 2017, on children aged from 1 day to 14 years old. On each scan, 23 measurements of the larynx, trachea, and mainstem bronchi were performed. Patients were stratified into 16 groups according to their age. We calculated median value for each measurement in each group. Statistical models were calculated to explore correlation between measurements and age or weight. RESULTS: A total of 192 scans were included (127 boys/65 girls). The mean age was 7 years. The correlations between airway measurements and age or weight were always significant. The relationship between measurements and age was found to be suitably represented by a cubic polynomial equation suggesting that the airway has a rapid growth phase in the first 3 years, followed by a slow growth phase and a second rapid growth phase during adolescence. The most relevant biometric parameter was age concerning 21 of the measurements. CONCLUSION: This comprehensive anatomical database of upper airway dimensions provides important data in the field of pediatric airway anatomy, particularly relating to the cricoid. We demonstrated that laryngeal, tracheal, and bronchial parameters correlate better to age and have three different growth phases.


Assuntos
Pesos e Medidas Corporais , Brônquios/anatomia & histologia , Laringe/anatomia & histologia , Tomografia Computadorizada por Raios X/métodos , Traqueia/anatomia & histologia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos
10.
Artigo em Inglês | MEDLINE | ID: mdl-39148289

RESUMO

OBJECTIVE: To study the efficiency of lingual tonsillectomy (LT) as part of multilevel surgery in children with complex obstructive sleep apnea (OSA). To evaluate the safety and the outcomes of LT. STUDY DESIGN: Retrospective case series. SETTING: Pediatric tertiary care academic center. METHODS: We included all children operated for LT to treat complex OSA, from January 2018 to June 2022. All patients underwent a protocolized drug-induced sleep endoscopy (DISE) followed by a coblation LT, associated with the treatment of all other obstructive sites. Patient demographics, medical history, surgery, and outcomes were reviewed. The efficiency of LT was analyzed exclusively in patients with a preoperative and postoperative sleep study. RESULTS: One hundred twenty-three patients were included. Median age was 8 years (interquartile range, IQR [3-12]). Sixty-five (53%) patients had Down syndrome, 22 (18%) had a craniofacial malformation, and 8 (7%) were obese. LT was associated with adenoidectomy (n = 78, 63%), partial tonsillectomy (n = 70, 57%), inferior turbinoplasty/turbinectomy (n = 59, 48%), epiglottoplasty (n = 92, 75%), and/or expansion pharyngoplasty (n = 2, 2%). Eighty-nine patients underwent a sleep study before and after surgery. The median apnea-hypopnea index (AHI) decreased from 18 events/h (IQR [9-36]) before surgery to 3 events/h (IQR [1-5]) after surgery (P < .001) (patients with a postoperative AHI <1.5 events/h, n = 31, 35%, and an AHI <5 events/h, n = 32, 36%). Seventeen out of 30 (57%) patients could be weaned from continuous positive airway pressure after surgery. Two patients had a postoperative hemorrhage and 2 patients required a transient postoperative reintubation. CONCLUSION: In children with complex OSA, LT as part of a DISE-directed multilevel upper airway surgery, was a very efficient and safe procedure.

11.
Int J Pediatr Otorhinolaryngol ; 177: 111860, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38224655

RESUMO

OBJECTIVE: To describe and compare clinical and microbiological features, surgical and medical management, and outcomes of children with otogenic and sinogenic intracranial empyema (IE) in an institution with an established multidisciplinary protocol. To use the study findings to inform and update the institutional algorithm. METHODS: Retrospective analysis was carried out on the electronic healthcare records of all children with oto-sinogenic IE admitted in a 5-year period. RESULTS: A total of 76 patients were identified and treated according to an institutional protocol. Two distinct groups were identified: intracranial empyema related to otogenic infection (OI-IE, n = 36) or sinogenic infection (SI-IE, n = 40). SI-IE was seen in older children and had a significantly higher morbidity. Sub-dural IE was seen in a minority (n = 16) and only in SI-IE and required urgent collaborative ENT-neurosurgery. Extra-dural IE occurred more frequently and was seen in both SI-IE and OI-IE. No death and overall low morbidity were observed. Particularities found in SI-IE and OI-IE groups (as thrombosis, microbiology, antibiotic treatment, duration and outcome) permitted the delineation of these groups in our updated algorithm. CONCLUSION: The presence of a collaborative multidisciplinary protocol permits the step-wise co-ordination of care for these complex patients in our institution. All patients received prompt imaging, urgent surgical intervention, and antibiotic treatment. Microbiological identification was possible for each patient and antibiotic rationalization was permitted through use of Polymerase chain reaction (PCR) testing in cases of sterile cultures. Of note, intracranial empyema related to sinogenic infection is shown to have significantly more severe clinical presentation, a higher morbidity, and a longer duration of antibiotic therapy than that related to otogenic infection. Study findings allowed for the update and clarification of the institutional protocol, which now clearly demarcates the clinical presentation, biological evidence, radiology, surgical and medical treatments in children with oto-sinogenic IE.


Assuntos
Abscesso Encefálico , Empiema Subdural , Empiema , Criança , Humanos , Empiema Subdural/diagnóstico , Empiema Subdural/epidemiologia , Empiema Subdural/etiologia , Abscesso Encefálico/diagnóstico por imagem , Abscesso Encefálico/etiologia , Abscesso Encefálico/terapia , Estudos Retrospectivos , Antibacterianos/uso terapêutico
12.
Lancet Reg Health Eur ; 45: 101035, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39262447

RESUMO

Background: Infants with Down syndrome (DS) are at high risk of obstructive sleep apnoea (OSA) which is associated with neurocognitive dysfunction and behaviour problems. The aim of our study was to evaluate the effect of early OSA treatment in infants with DS on neurocognitive development and behaviour. Methods: In this prospective, interventional, non-randomised study, 40 infants with DS underwent polysomnography (PSG) every 6 months in room air between 6 and 36 months of age (Screened Group) and were compared to a control group of 40 infants with DS receiving standard of care and a single, systematic PSG in room air at 36 months of age (Standard Care Group). When present, OSA was treated. The primary endpoint was the total score of the Griffiths Scales of Child Development, Third Edition (Griffiths III) and its subscores at 36 months. Secondary endpoints included a battery of neurocognitive and behaviour questionnaires, and PSG outcomes. Findings: On the Griffiths III, the total score was significantly higher in the Screened Group compared to the Standard Care Group (difference: 4.1; 95%CI: 1.3; 7.6; p = 0.009). Results in Griffiths III subscores and secondary endpoints were in support of better neurocognitive outcomes in the Screened Group compared with the Standard Care Group. At 36 months, median (Q1; Q3) apnoea-hypopnea index was higher in the Standard Care Group (4.0 [1.5; 9.0] events/hour) compared to the Screened Group (1.0 [1.0; 3.0] events/hour, p = 0.006). Moderate and severe OSA were more frequent in the Standard Care Group as compared to the Screened Group (18.9% versus 3.7% for moderate OSA and 27.0% versus 7.4% for severe OSA). Interpretation: Early diagnosis and treatment of OSA in infants with DS may contribute to a significantly better neurocognitive outcome and behaviour at the age of 36 months. Funding: The study was funded by the Jérôme Lejeune Foundation.

13.
Int J Pediatr Otorhinolaryngol ; 176: 111810, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38147730

RESUMO

OBJECTIVE: To provide recommendations for a comprehensive management approach for infants and children presenting with symptoms or signs of aspiration. METHODS: Three rounds of surveys were sent to authors from 23 institutions worldwide. The threshold for the critical level of agreement among respondents was set at 80 %. To develop the definition of "intractable aspiration," each author was first asked to define the condition. Second, each author was asked to complete a 5-point Likert scale to specify the level of agreement with the definition derived in the first step. RESULTS: Recommendations by the authors regarding the clinical presentation, diagnostic considerations, and medical and surgical management options for aspiration in children. CONCLUSION: Approach to pediatric aspiration is best achieved by implementing a multidisciplinary approach with a comprehensive investigation strategy and different treatment options.


Assuntos
Otolaringologia , Lactente , Criança , Humanos , Consenso , Inquéritos e Questionários , Técnica Delphi
14.
Int J Pediatr Otorhinolaryngol ; 186: 112095, 2024 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-39278130

RESUMO

OBJECTIVE: First branchial cleft anomalies are rare congenital head and neck lesions. Literature pertaining to classification, work up and surgical treatment of these lesions is limited and, in some instances, contradictory. The goal of this work is to provide refinement of the classification system of these lesions and to provide guidance for clinicians to aid in the comprehensive management of children with first branchial cleft anomalies. MATERIALS AND METHODS: Delphi method survey of expert opinion under the direction of the International Pediatric Otolaryngology Group (IPOG) was conducted to generate recommendations for the definition and management of first branchial cleft anomalies. The recommendations are the result of expert consensus and critical review of the literature. RESULTS: Consensus recommendations include evaluation and diagnostic considerations for children with first branchial cleft anomalies as well as recommendations for surgical management. The current Work classification system was reviewed, and modifications were made to it to provide a more cogent categorization of these lesions. CONCLUSION: The mission of the International Pediatric Otolaryngology Group (IPOG) is to develop expertise-based recommendations based on review of the literature for the management of pediatric otolaryngologic disorders. These consensus recommendations are aimed at improving care of children presenting with first branchial cleft anomalies. Here we present a revised classification system based on parotid gland involvement, with a focus on avoiding stratification based on germ layer, in addition to guidelines for management.

15.
Front Med (Lausanne) ; 10: 1210915, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37457585

RESUMO

Background: The definition of a great surgeon is usually reported by surgeons themselves. The objective of the study was to define a multifaceted definition of a great surgeon, by confronting patients', healthcare workers', and surgeons' perspectives. Study design: An online open-ended questionnaire was created to identify three qualities and three shortcomings defining a great surgeon. Age, gender, and profession of respondents were collected. Responses with a similar meaning were combined into word groups and labeled within four themes: human qualities, technical surgical skills (TSS), non-technical skills (NTS), and knowledge. Multivariate analyses were conducted between themes and respondent characteristics. Results: Four thousand seven hundred and sixty qualities and 4,374 shortcomings were obtained from 1,620 respondents including 385 surgeons, 291 patients, 565 operating theater (OT) health professionals, and 379 non-OT health professionals. The main three qualities were dexterity (54% of respondents), meticulousness (18%), and empathy (18%). There was no significant difference between professional categories for TSS. Compared with surgeons, non-OT health professionals and patients put more emphasis on human qualities (29 vs. 39% and 42%, respectively, p < .001). OT health professionals referred more to NTS than surgeons (35 vs. 22%, p < 0.001). Knowledge was more important for surgeons (19%) than for all other professional categories (p < 0.001). Conclusions: This survey illustrates the multifaceted definition of a great surgeon. Even if dexterity is a major quality, human qualities are of paramount importance. Knowledge seems to be underestimated by non-surgeons, although it essential to understand the disease and preparing the patient and OT team for the procedure.

16.
Bone Marrow Transplant ; 58(3): 295-302, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36494569

RESUMO

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.5) for 51 MPS I-H patients who underwent HSCT between 1986 and 2018 in France. 4 patients died from complications of HSCT and one from disease progression. Complete chimerism and normal α-L-Iduronidase activity were obtained in 84% and 71% of patients respectively. No difference of outcomes was observed between bone marrow and cord blood stem cell sources. All patients acquired independent walking and 91% and 78% acquired intelligible language or reading and writing. Intelligence Quotient evaluation (n = 23) showed that 69% had IQ ≥ 70 at last follow-up. 58% of patients had normal or remedial schooling and 62% of the 13 adults had good socio-professional insertion. Skeletal dysplasia as well as vision and hearing impairments progressed despite HSCT, with significant disability. These results provide a long-term assessment of HSCT efficacy in MPS I-H and could be useful in the evaluation of novel promising treatments such as gene therapy.


Assuntos
Transplante de Células-Tronco Hematopoéticas , Mucopolissacaridose I , Adulto , Humanos , Mucopolissacaridose I/terapia , Seguimentos , Estudos Retrospectivos , Terapia Genética , Iduronidase/uso terapêutico
17.
Laryngoscope ; 132(9): 1861-1868, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34713900

RESUMO

OBJECTIVES/HYPOTHESIS: To analyze the role of noninvasive respiratory support (NRS) as an alternative to tracheostomy in the management of severe laryngomalacia. STUDY DESIGN: We conducted a monocentric retrospective study in a tertiary pediatric care center. METHODS: All children under the age of 3 years with severe laryngomalacia, treated between January 2014 and December 2019, were included. Patient demographics, medical history, nutrition, surgery, NRS, and outcome were reviewed. Predictors for NRS were analyzed. RESULTS: One hundred and eighty-eight patients were included. Mean age was 4 ± 5 months and mean weight was 4,925 ± 1,933 g. An endoscopic bilateral supraglottoplasty was performed in 183 (97%) patients and successful in 159 (87%). NRS was initiated in 29 (15%) patients at a mean age of 3 ± 2 months (1-11 months): 15 (52%) patients were treated with NRS after surgical failure, 9 (31%) were treated with NRS initiated prior to surgery because of abnormal overnight gas exchange, and 5 (17%) were treated exclusively with NRS due to comorbidities contraindicating an endoscopic procedure. NRS was successfully performed in all patients with a mean duration of 6 ± 11 months. No patient required a tracheostomy. Univariate analysis identified the following predictors of NRS: neonatal respiratory distress (P = .003), neurological comorbidity (P < .001), associated laryngeal abnormality (P < .001), cardiac surgery (P = .039), surgical endoscopic revision (P = .007), and nutritional support (P < .001). CONCLUSION: NRS is a safe procedure, which may avoid a tracheostomy in severe laryngomalacia, in particular, in case of endoscopic surgery failure, respiratory failure before surgery, and/or severe co-morbidity. LEVEL OF EVIDENCE: 3 Laryngoscope, 132:1861-1868, 2022.


Assuntos
Laringomalácia , Ventilação não Invasiva , Humanos , Lactente , Laringomalácia/terapia , Gravidade do Paciente , Estudos Retrospectivos , Traqueostomia , Resultado do Tratamento
18.
Int J Pediatr Otorhinolaryngol ; 145: 110706, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33862327

RESUMO

PURPOSE: Chronic rhinosinusitis (CRS) is a frequent, quality-of-life (QOL) impairing disease in pediatrics. The SN-5 is a reliable, sensitive and reproductible QOL questionnaire, validated in English for evaluation of CRS disease-specific QOL in children. This study aims to adapt and validate the French version of this test. METHODS: The SN-5 score was adapted into French language through a forward-backwards translation process, and validated through a monocentric prospective controlled study. Inclusion criteria were 2-12 years of age, CRS symptoms for at least 12 weeks, or absence of sino-nasal symptom for controls. Reproducibility was assessed through Spearman's correlation between initial answers and a re-test conducted 15 days later. Internal consistency was measured through Cronbach's alpha, construct validity through Spearman's correlation between items, discriminative ability through Mann-Whitney tests. RESULTS: 40 patients and 37 controls filled the score between November 2019 and March 2020. Retest was returned by 35 patients and 35 controls. Mean cases age was 8.5 ± 2.6 years old. 26 patients had primary CRS, 10 had cystic fibrosis, 4 had ciliary dyskinesia. All had diffuse disease. Mean SN-5 overall score was 3.63/7 ± 6.4 for CRS patients and 1.89/7 ± 0.9 for controls (p < 0.001). Test-retest coefficient was 0.84 (0.70-0.92; p < 0.001), Cronbach's alpha was 0.83 for CRS patient. Item per item construct validity was good to excellent. CONCLUSIONS: The French version of the SN-5 showed good statistical properties, with good test-retest reliability, internal consistency, structural validity and discriminative ability between CRS and control patients.


Assuntos
Idioma , Qualidade de Vida , Criança , Pré-Escolar , Humanos , Lactente , Estudos Prospectivos , Psicometria , Reprodutibilidade dos Testes , Inquéritos e Questionários , Traduções
19.
J Pediatr Surg ; 56(10): 1752-1756, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33199056

RESUMO

PURPOSE: To report our experience with endoscopic Thulium LASER for treatment of recurrent TEF after EA surgery, and for H-Type fistulas. METHODS: A retrospective chart review of consecutive patients undergoing standardized endoscopic closure as first line therapy of recurrent tracheoesophageal fistula (RTEF) and H-type fistula using Thulium LASER, from 2013 to 2019, in a pediatric tertiary care center. Control endoscopic procedure was systematically performed. If persistence of the TEF was noted an external approach was performed. Patient demographics, medical history, symptoms, TEF type, treatment modalities, complications and outcomes were collected. RESULTS: Eleven patients with tracheoesophageal fistula were included: six RTEF after primary repair of esophageal atresia and five H-type fistulas. The average age at endoscopic treatment was 19 months (SD 23 months, range 13 days-63 months). Closure of the fistula after single endoscopic procedure with Thulium LASER was obtained in 3 RTEF (50%) and 1 H-type fistula (20%). Six patients with failure of endoscopic treatment were cured after a single external procedure without any complications. One child, treated for H-type fistula, presented a severe complication of Thulium LASER treatment. Median follow-up after last repair was 24 months (range: 14-72 months). All fistulas were successfully treated. CONCLUSIONS: In H-Type fistula, success rate of Thulium LASER is only 20% and thus should not be used. In contrast, in RTEF, success rate of 50% is achieved, avoiding as many open procedures, and Thulium LASER could be considered as first line treatment. In any case, open surgery is safe and efficient and can be considered as a first-line treatment for H-type fistulas, and as a salvage treatment for endoscopic treatment failures. LEVELS OF EVIDENCE: Level IV.


Assuntos
Atresia Esofágica , Fístula Traqueoesofágica , Criança , Atresia Esofágica/cirurgia , Humanos , Lactente , Lasers , Estudos Retrospectivos , Túlio , Fístula Traqueoesofágica/etiologia , Fístula Traqueoesofágica/cirurgia , Resultado do Tratamento
20.
Front Neurol ; 12: 606617, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33897582

RESUMO

Neurologic manifestations associated with Covid-19 are increasingly reported, especially stroke and acute cerebrovascular events. Beyond cardiovascular risk factors associated with age, some young adults without medical or cardiovascular history had stroke as a presenting feature of Covid-19. Suggested stroke mechanisms in this setting are inflammatory storm, subsequent hypercoagulability, and vasculitis. To date, a handful of pediatric stroke cases associated with Covid-19 have been reported, either with a cardioembolic mechanism or a focal cerebral arteriopathy. We report the case of an adolescent who presented with febrile meningism and stupor. Clinical, biological, and radiological features favored the diagnosis of Lemierre syndrome (LS), with Fusobacterium necrophorum infection (sphenoid sinusitis and meningitis) and intracranial vasculitis. The patient had concurrent SARS-CoV-2 infection. Despite medical and surgical antimicrobial treatment, stroke prevention, and venous thrombosis prevention, he presented with severe cerebrovascular complications. Venous thrombosis and stroke were observed, with an extension of intracranial vasculitis, and lead to death. As both F. necrophorum and SARS-CoV-2 enhance inflammation, coagulation, and activate endothelial cells, we discuss how this coinfection may have potentiated and aggravated the usual course of LS. The potentiation by SARS-CoV-2 of vascular and thrombotic effects of a bacterial infection may represent an underreported cerebrovascular injury mechanism in Covid-19 patients. These findings emphasize the variety of mechanisms underlying stroke in this disease. Moreover, in the setting of SARS-CoV-2 pandemic, we discuss in what extent sanitary measures, namely, lockdown and fear to attend medical facilities, may have delayed diagnosis and influenced outcomes. This case also emphasizes the role of clinical assessment and the limits of telemedicine for acute neurological condition diagnosis.

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