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1.
Laryngoscope ; 2024 Jun 10.
Artículo en Inglés | MEDLINE | ID: mdl-38855882

RESUMEN

INTRODUCTION: Pediatric cholesteatoma is an aggressive disease which requires long-term evaluation to assess management strategies. The objective was to determine optimal follow-up duration in pediatric cholesteatoma to detect residual and recurrent diseases. METHODS: This cohort study was set in a tertiary referral center. All consecutive patients with a minimum 5-year follow-up were included. Medical history, initial extension, surgical procedures, and follow-up were collected. The main outcome measure were Kaplan-Meier survival curves of residual and recurrence cumulative incidence. RESULTS: Totally 239 ears with the first tympanoplasty between 2008 and 2014 were studied including 25% congenital. At first surgery (S1), mean age was 8.4 years and mean follow-up time 7.9 years. Mastoidectomy was performed in 69% and stapes was absent in 38% of cases. Notably, 83% (199 ears) had a second procedure (S2) of which 186 were planned. After S1, maximum cumulated incidence of residual was 45% [95%CI, 38%; 52%] at 74 months, with probability of residual of 39% at 3 years. After S2 (n = 199), maximum cumulated residual incidence was 21% [95%CI, 12%; 32%] at 62 months and 16% at 3 years. Concerning recurrence, maximum cumulated incidence after S1 (n = 239) was reached at 98 months with 21% [95%CI, 12%; 32%], 13% at 3 years and 16% at 5 years. Congenital disease had significantly less residuals after S1 (p = 0.02), but similar recurrence rate (p = 0.66) compared with acquired. CONCLUSIONS AND RELEVANCE: We recommend MRI follow-up of at least 5 years after the last surgery for residual disease and clinical follow-up of at least 10 years to detect recurrence. LEVEL OF EVIDENCE: 4 Laryngoscope, 2024.

2.
Sleep Breath ; 2024 Jun 06.
Artículo en Inglés | MEDLINE | ID: mdl-38842644

RESUMEN

PURPOSE: Patients with syndromic hemifacial microsomia (SHFM) are at risk of obstructive sleep apnea (OSA). The aim of the study was to describe the prevalence of OSA and its management, especially in patients with Goldenhar syndrome (GS). METHODS: The respiratory polygraphies and clinical management of 15 patients, aged 2 to 23 years, evaluated at a national reference center, were analyzed. RESULTS: Four (27%) patients had no OSA, 4 (27%) had mild OSA, and 7 (46%), of whom 5 were ≤ 2 years old, had severe OSA. None of the patients had central apneas. Only one patient had alveolar hypoventilation, and another one had nocturnal hypoxemia. Two patients had severe OSA despite prior adenoidectomy or mandibular distraction osteogenesis. Median duration of follow-up was 3.5 years (range 0.5-9 years). None of the patients without OSA or with mild OSA at baseline respiratory polygraphy developed OSA during the follow up. Among the 7 patients with severe OSA, 3 required continuous positive airway pressure or noninvasive ventilation, and one patient required a tracheostomy. CONCLUSION: In conclusion, patients with SHFM are at high risk of severe OSA at any age, underlining the importance of systematic sleep studies to diagnose and evaluate the severity of OSA. Individualized treatment should be privileged, based on a careful examination of the entire upper airway, taking in account potential associated risk factors. All patients with SHFM should be managed by a pediatric expert multidisciplinary medical/surgical team until the end of post pubertal growth.

3.
Artículo en Inglés | MEDLINE | ID: mdl-38642088

RESUMEN

PURPOSE: Videos and images are becoming an educational tool in every domain. The objective was to assess the contribution of short educational endoscopic videos in learning the complex anatomy of the tympanic cavity. METHODS: We conducted a prospective study amongst all the otolaryngology residents in 2021 in the greater Paris area (n = 74), from the first year to fifth year. We divided the residents into two groups who had the same 30-min anatomy class based on anatomical drawings. The second group had a 4-min endoscopic educational video at the end, whereas the first group did not. A video test of 10 surgical situations with each time 5 anatomic structures to identify was created. All the residents took the test just after the class, and 1 month later to assess long-term memory. The MERSQI score (design to assess the quality of educational studies) applied to our study was calculated. RESULTS: The two groups were comparable in terms of training. The "video" group had significantly better results in the first test, mean score 24.40/50 (± 11.7) versus 16.74/50 (± 11.1) (p = 0.005) and also at 1 month, mean score 23.25/50 (± 12.3) versus 18.01/50 (± 11.3) (p = 0.035). The score in each group, and the difference between both groups, increased with resident seniority. The MERSQI score of our study was 14.5/18. CONCLUSION: This study highlights the educational value of videos to help memorise complex 3D anatomy such as in the tympanic cavity.

4.
Otolaryngol Head Neck Surg ; 170(1): 221-229, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37313857

RESUMEN

OBJECTIVE: To evaluate the accuracy, sensitivity, and specificity of nonecho planar (non-EPI) diffusion-weighted (DW) magnetic resonance imaging (MRI) to detect residual cholesteatoma in children. STUDY DESIGN: Retrospective study. SETTING: Tertiary comprehensive hospital. METHODS: Children operated on for a first-stage cholesteatoma procedure from 2010 to 2019 were included. MRIs were performed with non-EPI DW sequences. Initial reports were collected, indicating the presence or absence of hyperintensity suggestive of cholesteatoma. Three hundred twenty-three MRIs were correlated with the subsequent surgery (66%) or year-later MRI (21%), or were considered accurate if performed 5 years or more after the last surgery (13%). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of each imaging procedure for the detection of cholesteatoma were calculated. RESULTS: Two hundred twenty-four children with mean age of 9 ± 4 years old presented with cholesteatoma. MRIs were performed 27 ± 24 months after surgery. Residual cholesteatoma was diagnosed in 35%. The sensitivity, specificity, PPV, and NPV of MRI were 62%, 86%, 74%, and 78%, respectively. Accuracy, sensitivity, and specificity increased significantly over time (multivariate analysis). The mean delay after last surgery was of 30 ± 2.0 months for accurate MRI (true positive or negative) versus 17 ± 2.0 months for nonaccurate (false positive or negative) MRIs (p < .001). CONCLUSION: However, long the delay after the last surgery, the sensitivity of non-EPI diffusion sequence MRI in children has limitations for the detection of residual cholesteatoma. Surveillance for residual cholesteatoma should incorporate findings at primary surgery, surgeon experience, a low threshold for second-look procedures, and routine imaging.


Asunto(s)
Colesteatoma del Oído Medio , Humanos , Niño , Preescolar , Adolescente , Colesteatoma del Oído Medio/diagnóstico por imagen , Colesteatoma del Oído Medio/cirugía , Estudios de Seguimiento , Estudios Retrospectivos , Estudios Prospectivos , Imagen de Difusión por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/métodos , Sensibilidad y Especificidad
5.
Front Pediatr ; 11: 1171277, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37664547

RESUMEN

Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at describing the external ear phenotype of MFDM patients, and train an Artificial Intelligence (AI)-based model to differentiate MFDM ears from non-syndromic control ears (binary classification), and from ears of the main differential diagnoses of this condition (multi-class classification): Treacher Collins (TC), Nager (NAFD) and CHARGE syndromes. Methods: The training set contained 1,592 ear photographs, corresponding to 550 patients. We extracted 48 patients completely independent of the training set, with only one photograph per ear per patient. After a CNN-(Convolutional Neural Network) based ear detection, the images were automatically landmarked. Generalized Procrustes Analysis was then performed, along with a dimension reduction using PCA (Principal Component Analysis). The principal components were used as inputs in an eXtreme Gradient Boosting (XGBoost) model, optimized using a 5-fold cross-validation. Finally, the model was tested on an independent validation set. Results: We trained the model on 1,592 ear photographs, corresponding to 1,296 control ears, 105 MFDM, 33 NAFD, 70 TC and 88 CHARGE syndrome ears. The model detected MFDM with an accuracy of 0.969 [0.838-0.999] (p < 0.001) and an AUC (Area Under the Curve) of 0.975 within controls (binary classification). Balanced accuracies were 0.811 [0.648-0.920] (p = 0.002) in a first multiclass design (MFDM vs. controls and differential diagnoses) and 0.813 [0.544-0.960] (p = 0.003) in a second multiclass design (MFDM vs. differential diagnoses). Conclusion: This is the first AI-based syndrome detection model in dysmorphology based on the external ear, opening promising clinical applications both for local care and referral, and for expert centers.

6.
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.

7.
Otolaryngol Head Neck Surg ; 169(6): 1631-1638, 2023 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-37264987

RESUMEN

OBJECTIVE: Non-echo-planar diffusion-weighted (DW) magnetic resonance imaging (non-EPI MRI) is the appropriate sequence to detect residual cholesteatoma. In the child, MRI may be clinically useful to determine the timing of the second-look procedure. The aim of this paper was to retrospectively evaluate the performance of early MRI (before the 18th postoperative month) in detecting residual cholesteatoma in children after review by experienced specialized neuroradiologists. STUDY DESIGN: Retrospective study. SETTING: One university center comparative cohort. METHODS: All patients who had a 2-staged procedure for cholesteatoma with an MRI before the second stage from 2010 to 2020 were included and analyzed. Three pediatric neuroradiologists reviewed all the images blinded to the surgical result. RESULTS: N = 141 cholesteatoma events (140 children) were included with a mean age at MRI of 10 (±4) years old. Non-EPI MRIs were performed 10.7 (±3.8) months after the first-stage surgery and 2.2 (±2.6) months before the second-stage procedure. Non-EPI MRI had a 0.57 sensitivity (SE) and 0.83 specificity (SP). MRI was reviewed in 112 cases. The diagnosis was corrected in 17 cases (15.1%) (3 true positives, 7 false negatives, and 7 false positives). SE = 0.63 (p = 0.1) and SP = 0.92 (p = 0.08) after rereading. CONCLUSION: Early MRI's SE is poor but SP is excellent after rereading. Evidence does not support the use of early non-EPI MRI to modify the surgical strategy or to postpone the second look. If performed, early non-EPI MRI should be read by specialized experienced radiologists with all 3 sequences (T1, T2, and non-EPI DW) and apparent diffusion coefficient calculation, especially in cases of otitis media with effusion.


Asunto(s)
Colesteatoma del Oído Medio , Niño , Humanos , Adolescente , Estudios Retrospectivos , Colesteatoma del Oído Medio/diagnóstico por imagen , Colesteatoma del Oído Medio/cirugía , Estudios Prospectivos , Imagen por Resonancia Magnética , Imagen de Difusión por Resonancia Magnética/métodos , Sensibilidad y Especificidad
9.
Otol Neurotol ; 44(4): e241-e245, 2023 04 01.
Artículo en Inglés | MEDLINE | ID: mdl-36764706

RESUMEN

OBJECTIVE: Deletions of STRC gene (DFNB16) account for 12% of isolated congenital mild to moderate hearing loss (HL). In mice, the stereocilin protein, encoded by STRC , is present in the vestibular kinocilium embedded in the otoconial membrane of the utricular macula. Despite this, effects on vestibular function have not been widely investigated. The aim of this study was to investigate the prevalence of benign paroxysmal positional vertigo (BPPV) in a cohort of DFNB16 patients. STUDY DESIGN: Observational descriptive epidemiological study. SETTING: Single-center study, in a tertiary referral center. PATIENTS: Older than 5 years, with a genetic diagnosis of HL related to biallelic STRC gene deletions, diagnosed between 2015 and 2021. INTERVENTION: Patients or their parents were interviewed to determine whether they had experienced vertigo or episodes of BPPV. MAIN OUTCOME MEASURE: Criteria were at least five acute episodes of rotatory vertigo, each lasting less than 1 minute, episodes triggered by changes in specific head position, and an absence of neurological symptoms. RESULTS: Sixty-four patients having mild (33%) to moderate (66%) HL were included. Median age was 15 years (range, 6-48 yr). Prevalence of BPPV was 39% (25 of 64). Median age of first onset was 13 years (range, 3-18 yr). CONCLUSIONS: This study showed recurrent BPPV and early age of onset in patients with biallelic STRC gene deletions. BPPV may be associated with the HL phenotype in patients with STRC gene deletions. It is important to inform patients and families of this potential risk such that appropriate management can be proposed.


Asunto(s)
Vértigo Posicional Paroxístico Benigno , Pérdida Auditiva Sensorineural , Vestíbulo del Laberinto , Adolescente , Adulto , Niño , Persona de Mediana Edad , Adulto Joven , Vértigo Posicional Paroxístico Benigno/epidemiología , Vértigo Posicional Paroxístico Benigno/genética , Vértigo Posicional Paroxístico Benigno/diagnóstico , Eliminación de Gen , Humanos
10.
Int J Audiol ; 62(6): 592-598, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-35533092

RESUMEN

OBJECTIVE: Hearing loss can seriously impact children's quality of life. Disease-specific questionnaires are required to optimise medical care. This study aims to translate, adapt and validate the French version of the PEACH score for the auditory performance of children. DESIGN: This is a controlled, prospective study, conducted between April and October 2020. The translation was conducted using a forward-backward technique, and statistical validation was conducted with a test and re-test, on a patient population and a control population. STUDY SAMPLE: Patients were included if they were 1-11 years old, and had at least 30 dB hearing loss in one ear. The mean age was 6 years for the 39 patients and 3.9 years for the 34 controls. RESULTS: Reproducibility, measured by Spearman's coefficient between global scores of the test and re-test was 0.78 (p < 0.001). The test was internally consistent (Cronbach's alpha was 0.89) and item per item construct validity was satisfactory. The ROC curve showed a moderate area under the curve (0.74 p < 0.001) with 67% sensitivity and 73% specificity. CONCLUSIONS: The French PEACH had good statistical properties, although a brief 13-item questionnaire, and can be used for evaluation of the disease-specific quality of life for young children with hearing loss.


Asunto(s)
Sordera , Pérdida Auditiva , Humanos , Niño , Preescolar , Lactante , Calidad de Vida , Reproducibilidad de los Resultados , Estudios Prospectivos , Pérdida Auditiva/diagnóstico , Padres , Encuestas y Cuestionarios , Psicometría
11.
Int J Audiol ; 62(8): 738-746, 2023 08.
Artículo en Inglés | MEDLINE | ID: mdl-35671326

RESUMEN

OBJECTIVES: Hearing loss can seriously impact children's daily life. This study aims to translate and validate the French versions of the hearing performance questionnaires, SSQ-Parent (for 5-18 years old children), and SSQ-Children (for 11-18 years old children). DESIGN: This controlled prospective trial was conducted between April and October 2020. The forward-backward translation method was used, and a test-retest procedure was carried out on a case and a control population. Cases had at least 30 dBHL hearing loss. STUDY SAMPLE: 54 cases (mean age 10.4 years old) and 32 controls (mean age 12.5 years old) answered the SSQ-Parent. 35 cases (mean age 13.1 years old) and 35 controls (mean age 14.3 years old) answered the SSQ-Children. RESULTS: Spearman's correlation coefficients between global scores of the test and re-test were 0.91 (p < 0.001) for SSQ-Parent, and 0.89 (p < 0.001) for SSQ-Children. Both tests were discriminant (respectively, global score 57.8 vs 92 p < 0.001, 61.2 vs 92.6 p < 0.001), and internally consistent (Cronbach's alpha 0.94 and 0.97). Items-global score correlation was satisfactory. ROC curves showed high area under curve for the SSQ-Children (0.990), and SSQ-Parent (0.988). CONCLUSION: The SSQ-Parent and SSQ-Children revealed excellent statistical properties, and can be used for the evaluation of hearing performance of children.


Asunto(s)
Sordera , Pérdida Auditiva , Percepción del Habla , Adolescente , Niño , Preescolar , Humanos , Audición , Pérdida Auditiva/diagnóstico , Padres , Estudios Prospectivos , Calidad de Vida , Habla , Encuestas y Cuestionarios
12.
Eur Arch Otorhinolaryngol ; 280(4): 1629-1637, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-36098862

RESUMEN

PURPOSE: to assess audiological performance in quiet and noise, quality of life and side effects of Vibrant Soundbridge (VSB) in children with congenital aural atresia (CAA). METHODS: A retrospective study including consecutive patients with unilateral or bilateral CAA implanted with VSB from 2009 to 2020 in a tertiary referral centre. RESULTS: 18 patients with CAA and a present stapes were included (3 simultaneous bilateral VSB implants) and 21 ears: 17 VSB were attached to the short incus process, and four to the stapes. Age at implantation ranged from 4.7 to 15.8 years. Average follow-up was 6.5 years (± 3.7 years). In unilateral VSB, air conduction pure tone average (ACPTA) thresholds increased from 75.3 ± 15.2 to 32.6 ± 8.3 dB post-operatively (VSB activated) (n = 15; p < 0.01). The speech reception threshold (SRT) and the word recognition score (WRS) were significantly improved from 81.5 ± 10.4 to 43.9 ± 7.6 dB and 0% to 84.8 ± 8.5% postoperatively (n = 15; p < 0.01). The signal to noise ratio (SNR) was significantly improved from 2.1 ± 2.9 dB VSB inactivated to 0.3 ± 2.7 dB VSB activated (n = 15; p < 0.01). There was no significant difference in performance according to floating mass transducer (FMT) placement. 5/15 children were non-users at last follow-up in unilateral VSB and 0/3 in bilateral. CONCLUSIONS: CAA ears with VSB activated had a significant improvement of ACPTA, WRS, SRT and SNR. A third of patients with unilateral CAA became non-users at last follow-up. The main challenge is to target the indications for the implantation of the VSB to avoid its discontinuation.


Asunto(s)
Prótesis Osicular , Calidad de Vida , Humanos , Niño , Preescolar , Adolescente , Estudios Retrospectivos , Resultado del Tratamiento , Oído Medio/cirugía
13.
Int J Audiol ; 62(11): 1011-1013, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-36345973

RESUMEN

OBJECTIVE: Chronic otitis media (COM) can seriously impact quality of life (QOL). Disease-specific questionnaires are essential for an accurate assessment of this impact. There is no questionnaire available for French-speaking patients with COM. This study aims to adapt and validate the French version of the COMQ-12 questionnaire. DESIGN: This is a controlled, prospective study, conducted between May 2020 and December 2021. Translation was performed using a forward-backward technique, and statistical validation was performed with a COM patients and a controls adult cohorts. STUDY SAMPLE: 100 patients (mean age 48 ± 16), and 50 controls (mean age 41 ± 16; p = 0.02) completed the test. RESULTS: Internal consistency, assessed by Cronbach's alpha, was 0.870 for the cases group. The mean COMQ-12 total score was 23.92 ± 11.3 for cases versus 3.70 ± 6.15 for controls (p < 0.0001). Individual items all had high discriminatory performances. The three items concerning ear discharge (Q1, Q2, Q9) had weaker correlation with the other items and the global score, but did not have a negative impact on internal consistency. CONCLUSION: The French version of the COMQ-12 is a short and easy-to-use test, with robust statistical properties, for assessing QOL in patients with COM.


Asunto(s)
Otitis Media , Calidad de Vida , Adulto , Humanos , Persona de Mediana Edad , Estudios Prospectivos , Reproducibilidad de los Resultados , Traducciones , Psicometría , Otitis Media/diagnóstico , Enfermedad Crónica , Encuestas y Cuestionarios
14.
J Vis Exp ; (202)2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38163263

RESUMEN

Congenital cholesteatoma accounts for 25% of cholesteatoma cases in children. Transcanal Endoscopic Ear Surgery (TEES) is ideal for these patients because it offers a wide endoscopic view of the middle ear and a minimally invasive approach. The two main limitations are the loss of one operative hand and a narrow external auditory canal in younger children. Here, we present the case of a 3-year-old patient with a Potsic stage III congenital cholesteatoma adherent to the incus and branches of the stapes. A robotic-assisted TEES procedure was performed, during which a robotic arm with 6 degrees of freedom held a 0°, 2.9 mm wide endoscope, enabling the surgeon to work in a narrow environment with both hands. The procedure's duration was 2 h and 9 min, including 16 min for the installation and draping of the robotic arm. After a trans-canal approach, the cholesteatoma was dissected from the ossicles using both a needle (or sickle knife) and suction to stabilize the ossicles and limit the risk of hearing trauma. The cholesteatoma was debulked to reduce its size, allowing it to be pushed under the malleus anteriorly and then separated from other adherences before removal. A tragal cartilage graft was used to reinforce the tympanic membrane.


Asunto(s)
Colesteatoma del Oído Medio , Procedimientos Quirúrgicos Robotizados , Robótica , Preescolar , Humanos , Colesteatoma del Oído Medio/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
15.
Eur J Hum Genet ; 30(8): 960-966, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35590056

RESUMEN

DNA polymerase δ is one of the three main enzymes responsible for DNA replication. POLD1 heterozygous missense variants in the exonuclease domain result in a cancer predisposition phenotype. In contrast, heterozygous variants in POLD1 polymerase domain have more recently been shown to be the underlying basis of the distinct autosomal dominant multisystem lipodystrophy disorder, MDPL (mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM # 615381), most commonly a recurrent in-frame deletion of serine at position 604, accounting for 18 of the 21 reported cases of this condition. One patient with an unusually severe phenotype has been reported, caused by a de novo c. 3209 T > A, (p.(Ile1070Asn)) variant in the highly conserved CysB motif in the C-terminal of the POLD1 protein. This region has recently been shown to bind an iron-sulphur cluster of the 4Fe-4S type. This report concerns a novel de novo missense variant in the CysB region, c.3219 G > C, (p.(Ser1073Arg)) in a male child with a milder phenotype. Using in silico analysis in the context of the recently published structure of human Polymerase δ holoenzyme, we compared these and other variants which lie in close proximity but result in differing degrees of severity and varying features. We hypothesise that the c.3219 G > C, (p.(Ser1073Arg)) substitution likely causes reduced binding of the iron-sulphur cluster without significant disruption of protein structure, while the previously reported c.3209 T > A (p.(Ile1070Asn)) variant likely has a more profound impact on structure and folding in the region. Our analysis supports a central role for the CysB region in regulating POLD1 activity in health and disease.


Asunto(s)
ADN Polimerasa III , Proteínas Hierro-Azufre , Lipodistrofia , Niño , ADN Polimerasa III/genética , Humanos , Proteínas Hierro-Azufre/genética , Lipodistrofia/genética , Masculino , Mutación Missense , Fenotipo , Síndrome
18.
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
19.
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
20.
Eur Arch Otorhinolaryngol ; 279(6): 2857-2863, 2022 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34291348

RESUMEN

PURPOSE: In chronic otitis media (COM), disease chronicity and severity of middle ear inflammation may influence the development of inner ear deficits, increasing the risk of vestibular impairment. This secondary analysis of the multinational collaborative Chronic Otitis Media Questionnaire-12 (COMQ-12) dataset sought to determine the prevalence of vestibular symptoms in patients with COM and identify associated disease-related characteristics. METHODS: Adult patients with a diagnosis of COM in outpatient settings at nine otology referral centers across eight countries were included. We investigated the presence of vestibular symptoms (dizziness and/or disequilibrium) using participant responses to item 6 of a native version of the COMQ-12. Audiometric data and otoscopic assessment were also recorded. RESULTS: This analysis included 477 participants suffering from COM, with 56.2% (n = 268) reporting at least mild inconvenience related to dizziness or disequilibrium. There was a significant association between air conduction thresholds in the worse hearing ear and presence of dizziness [adjusted odds ratio (AOR), 1.01; 95% CI 1.00-1.02; p = 0.0177]. Study participants in European countries (AOR 1.53; 95% CI 1.03-2.28; p = 0.0344) and Colombia (AOR 2.48; 95% CI 1.25-4.92; p = 0.0096) were more likely to report dizziness than participants in Asian countries. However, ear discharge and cholesteatoma showed no association with dizziness in the adjusted analyses. CONCLUSION: Vestibular symptoms contribute to burden of disease in patients with COM and associates with hearing disability in the worse hearing ear. Geographical variation in presentation of dizziness may reflect financial barriers to treatment or cultural differences in how patients reflect on their health state.


Asunto(s)
Mareo , Otitis Media , Adulto , Enfermedad Crónica , Mareo/complicaciones , Mareo/etiología , Humanos , Otitis Media/complicaciones , Otitis Media/diagnóstico , Otitis Media/epidemiología , Calidad de Vida , Encuestas y Cuestionarios , Vértigo/complicaciones
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