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1.
Int J Pediatr Otorhinolaryngol ; 186: 112095, 2024 Sep 07.
Artículo en Inglés | MEDLINE | ID: mdl-39278130

RESUMEN

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.

2.
Artículo en Inglés | MEDLINE | ID: mdl-39148289

RESUMEN

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.

3.
Front Med (Lausanne) ; 10: 1210915, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37457585

RESUMEN

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.

4.
Bone Marrow Transplant ; 58(3): 295-302, 2023 03.
Artículo en Inglés | MEDLINE | ID: mdl-36494569

RESUMEN

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.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas , Mucopolisacaridosis I , Adulto , Humanos , Mucopolisacaridosis I/terapia , Estudios de Seguimiento , Estudios Retrospectivos , Terapia Genética , Iduronidasa/uso terapéutico
5.
Am J Otolaryngol ; 44(2): 103749, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36577169

RESUMEN

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.


Asunto(s)
Atresia de las Coanas , Lactante , Humanos , Recién Nacido , Masculino , Atresia de las Coanas/cirugía , Peso al Nacer , Resultado del Tratamiento , Recien Nacido Prematuro , Nariz/cirugía , Endoscopía/métodos , Stents
6.
Am J Med Genet A ; 188(7): 1964-1971, 2022 07.
Artículo en Inglés | MEDLINE | ID: mdl-35278041

RESUMEN

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.


Asunto(s)
Neurofibromatosis 1 , Síndromes de la Apnea del Sueño , Apnea Central del Sueño , Apnea Obstructiva del Sueño , Niño , Presión de las Vías Aéreas Positiva Contínua/métodos , Femenino , Humanos , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/terapia , Síndromes de la Apnea del Sueño/diagnóstico , Síndromes de la Apnea del Sueño/epidemiología , Síndromes de la Apnea del Sueño/terapia , Apnea Central del Sueño/diagnóstico , Apnea Central del Sueño/epidemiología , Apnea Central del Sueño/etiología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico , Apnea Obstructiva del Sueño/epidemiología
7.
Eur J Pediatr ; 181(2): 647-652, 2022 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-34498170

RESUMEN

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%.


Asunto(s)
COVID-19 , Otolaringología , Niño , Control de Enfermedades Transmisibles , Servicio de Urgencia en Hospital , Humanos , Estudios Retrospectivos , SARS-CoV-2
8.
Laryngoscope ; 132(9): 1861-1868, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-34713900

RESUMEN

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.


Asunto(s)
Laringomalacia , Ventilación no Invasiva , Humanos , Lactante , Laringomalacia/terapia , Gravedad del Paciente , Estudios Retrospectivos , Traqueostomía , Resultado del Tratamiento
10.
Am J Med Genet A ; 185(7): 2108-2118, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33908178

RESUMEN

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.


Asunto(s)
Disostosis/congénito , Discapacidad Intelectual/terapia , Osteocondrodisplasias/congénito , Costillas/anomalías , Síndromes de la Apnea del Sueño/terapia , Apnea Obstructiva del Sueño/terapia , Columna Vertebral/anomalías , Adenoidectomía , Adolescente , Adulto , Niño , Preescolar , Presión de las Vías Aéreas Positiva Contínua/métodos , Disostosis/diagnóstico por imagen , Disostosis/patología , Disostosis/terapia , Femenino , Humanos , Lactante , Discapacidad Intelectual/diagnóstico por imagen , Discapacidad Intelectual/patología , Masculino , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/patología , Osteocondrodisplasias/terapia , Polisomnografía , Costillas/diagnóstico por imagen , Costillas/patología , Síndromes de la Apnea del Sueño/diagnóstico por imagen , Síndromes de la Apnea del Sueño/patología , Apnea Obstructiva del Sueño/diagnóstico por imagen , Apnea Obstructiva del Sueño/patología , Columna Vertebral/diagnóstico por imagen , Columna Vertebral/patología , Tonsilectomía , Resultado del Tratamiento , Adulto Joven
11.
Int J Pediatr Otorhinolaryngol ; 145: 110706, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-33862327

RESUMEN

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.


Asunto(s)
Lenguaje , Calidad de Vida , Niño , Preescolar , Humanos , Lactante , Estudios Prospectivos , Psicometría , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Traducciones
12.
Oral Oncol ; 114: 105145, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33482589

RESUMEN

INTRODUCTION: Cancer treatment in France is based on Multidisciplinary Tumor Board (MTB). In the Ile-de-France region (IDF), which includes 12 million inhabitants from Paris and the surrounding area, pediatric tumors of head and neck are discussed since 2013 in a dedicated Interregional Pediatric Multicentric MTB (IPMTB). The purpose of this study is to analyze the impact of the IDF head and neck IPMTB on the management of these tumors, 5 years after their implementation. MATERIALS AND METHODS: Retrospective study of all patient files presented in the IPMTB for a benign or malignant head-and-neck tumor, between 2013 and 2018. RESULTS: A total of 679 discussions were analyzed representing 428 patients. Median age was 7.5 years (range: 0-31 years). Malignant tumors represented 71% of cases, including 36% of rhabdomyosarcoma. Overall, 12% percent of the cases discussed came from centers outside of IDF. All meetings complied with multidisciplinary criteria required by French law. Proposals made during the IPMTB were followed in 86% of cases. Among the 251 proposals made by the referring teams prior to the IPMTB, 29% were secondarily modified after being discussed in the IPMTB. CONCLUSION: Thanks to their multidisciplinarity, high number of cases discussed and usual respect of their proposals, the IPMTB have made it possible to improve the coordination between all specialties involved in the patient's management, to apply the most recent and scientifically validated protocols, and to share the knowledge of different teams concerning the management of particularly rare tumors.


Asunto(s)
Neoplasias de Cabeza y Cuello , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Adulto Joven
13.
Front Pediatr ; 9: 783754, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35186818

RESUMEN

INTRODUCTION: The head and neck (HN) are the most frequent sites of pediatric rhabdomyosarcoma (RMS). Alveolar RMS (ARMS) represents ~20% of all RMS cases and frequently spread to lymph nodes (LNs). The aim was to report locoregional control, event-free survival (EFS), and overall survival (OS), according to clinical and pathological features, LN staging, and treatment modalities. METHODS: The study included all patients prospectively enrolled in EpSSG RMS 2005 study under 21 years of age with localized HN ARMS and diagnosed between 2005 and 2016 in France. Medical data including imaging, surgical report, and radiation therapy planes were analyzed. RESULTS: Forty-eight patients (median age 6 years; range 4 months-21 years), corresponding to 30 parameningeal and 18 non-parameningeal ARMS, were included. There were 33 boys (69%). Tumor locations included the following: orbit (n = 7) among which four cases had bone erosion, paranasal sinuses and nasal cavity (n = 16), deep facial spaces (n = 10), nasolabial fold (n = 8), and other non-parameningeal HN sites (n = 7). A fusion transcript of PAX3-FOXO1 or PAX7-FOXO1 was expressed in 33 of the 45 cases (73%) with molecular analysis. At diagnosis, 10 patients had primary resection of the primary tumor (PRPT) (none with microscopic complete resection) and 9 had LN staging. After induction chemotherapy, 26 patients (54%) had secondary resection of the primary tumor (SRPT) and 13 patients (27%) had cervical LN dissection. A total of 43 patients (90%) were treated with radiation therapy.With a median follow-up of 7 years (range 2-13 years), 5-year OS and EFS were 78% (95% CI, 63-88%) and 66% (95% CI, 51-78%), respectively. We observed 16 events (10 deaths): 4 local, 4 regional, 1 local and regional, and 7 metastatic. In univariate analysis, OS was only superior for patients under 10 years of age (p = 0.002), while FOXO1-negative ARMS, SRPT for parameningeal ARMS, and LN surgery were associated with significantly better EFS. CONCLUSION: Our study confirms a better outcome for fusion-negative ARMS and ARMS in children under 10 years. Moreover, LN surgery and SRPT of parameningeal tumor may improve EFS of ARMS. Larger studies are needed to confirm our findings.

14.
J Pediatr Surg ; 56(10): 1752-1756, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33199056

RESUMEN

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.


Asunto(s)
Atresia Esofágica , Fístula Traqueoesofágica , Niño , Atresia Esofágica/cirugía , Humanos , Lactante , Rayos Láser , Estudios Retrospectivos , Tulio , Fístula Traqueoesofágica/etiología , Fístula Traqueoesofágica/cirugía , Resultado del Tratamiento
15.
Int J Pediatr Otorhinolaryngol ; 124: 152-156, 2019 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-31195309

RESUMEN

BACKGROUND: Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment. METHODS: Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis. RESULTS: 6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects. CONCLUSION: Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.


Asunto(s)
Osteólisis Esencial/cirugía , Base del Cráneo , Malformación de Arnold-Chiari/complicaciones , Pérdida de Líquido Cefalorraquídeo/diagnóstico , Pérdida de Líquido Cefalorraquídeo/etiología , Pérdida de Líquido Cefalorraquídeo/cirugía , Niño , Preescolar , Endoscopía , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Procedimientos Neuroquirúrgicos , Osteólisis Esencial/complicaciones , Osteólisis Esencial/diagnóstico por imagen , Estudios Retrospectivos
16.
Am J Hum Genet ; 101(6): 1006-1012, 2017 Dec 07.
Artículo en Inglés | MEDLINE | ID: mdl-29198720

RESUMEN

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.


Asunto(s)
Amaurosis Congénita de Leber/genética , Microtúbulos/genética , Tubulina (Proteína)/genética , Adulto , Sitios de Unión/genética , Células Cultivadas , Niño , Análisis Mutacional de ADN , Femenino , Humanos , Masculino , Microtúbulos/metabolismo , Persona de Mediana Edad , Mutación Missense/genética , Células Fotorreceptoras/metabolismo , Tubulina (Proteína)/metabolismo , Secuenciación del Exoma
17.
J Craniomaxillofac Surg ; 44(12): 1984-1987, 2016 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27816417

RESUMEN

INTRODUCTION: Septic arthritis of the temporomandibular joint (TMJ) is a rare condition known to result in significant morbidity if diagnosis is delayed. Acute otomastoiditis is a typical complication of acute otitis media but few cases of acute otomastoiditis complicated with TMJ arthritis have been reported in the international literature. Furthermore, otomastoiditis reports and studies rarely analyzed TMJ CT scans. The aim of this study was to determine the incidence of TMJ arthritis in acute otomastoiditis, based on the analysis of CT scans. MATERIALS AND METHODS: We conducted a prospective study from 2014 to 2015, including all consecutive pediatric patients admitted to the Pediatric Otolaryngology department for acute otomastoiditis. A craniofacial injected CT scan was performed in all patients. The imagery was prospectively blind analyzed by two independent investigators screening for the criteria of TMJ arthritis. Finally, during the long-term follow-up we noted the number of patients presenting a clinical TMJ ankylosis. RESULTS: We included 45 patients. The analysis showed 15 patients with TMJ effusion. Of those, 6 (13.33%) had an abscess and 2 clinical ankyloses. CONCLUSION: This study showed a high rate of TMJ arthritis complicating otomastoiditis. Our results demonstrate that systematic TMJ analysis in the CT scan of patients with otomastoiditis is essential.


Asunto(s)
Artritis Infecciosa/etiología , Mastoiditis/complicaciones , Trastornos de la Articulación Temporomandibular/etiología , Enfermedad Aguda , Artritis Infecciosa/diagnóstico por imagen , Artritis Infecciosa/epidemiología , Niño , Preescolar , Femenino , Humanos , Incidencia , Lactante , Masculino , Mastoiditis/diagnóstico por imagen , Estudios Prospectivos , Trastornos de la Articulación Temporomandibular/diagnóstico por imagen , Trastornos de la Articulación Temporomandibular/epidemiología , Tomografía Computarizada por Rayos X
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