RESUMEN
OBJECTIVE: To identify associations between cochleovestibular anatomy findings and hearing outcomes found in children with imaging evidence of an absent or hypoplastic cochlear nerve treated with cochlear implantation (CI). STUDY DESIGN: retrospective review. SETTING: Cochlear implant program at tertiary care center. METHODS: A retrospective review was performed to identify children with imaging evidence of cochlear nerve absence or deficiency who underwent CI evaluation. High-resolution 3-dimensional T2-weighted magnetic resonance imaging in the oblique sagittal and axial planes were reviewed by a neuroradiologist to identify cochleovestibular anatomy. Hearing was assessed pre and postoperatively with Speech Perception Category scores. RESULTS: Seven CI recipients were identified (n = 10 ears) who had bilateral severe to profound sensorineural hearing loss with lack of auditory development with binaural hearing aid trial and imaging evidence of cochlear nerve aplasia/hypoplasia. All ears had 2 nerves in the cerebellopontine angle (100%, n = 10), half of the ears had evidence of 2 or less nerves in the internal auditory canal (IAC). All children showed large improvement in speech perception after CI. CONCLUSION: Our experience with CIs for children with absent or hypoplastic cochlear nerves demonstrates that CI can be a viable option in select patients who satisfy preoperative audiological criteria. Radiological identification of a hypoplastic or aplastic cochlear nerve does not preclude auditory innervation of the cochlea. CI recipients in this subgroup must be counseled on difficulty in predicting postimplantation language and speech outcomes, and cautioned about facial nerve stimulation.
RESUMEN
OBJECTIVES: Laryngotracheal reconstruction (LTR) has revolutionized the management of pediatric subglottic stenosis (SGS). However, postoperative stenosis remains a difficult hurdle to overcome. Our goal is to determine the clinical impact of recalcitrant stenosis after LTR and the factors contributing to postoperative stenosis. STUDY DESIGN: Retrospective review of 181 open LTR patients between 2008 and 2021. SETTING: Stand-alone tertiary children's hospital. METHODS: Recalcitrant stenosis was defined as new or worsening stenosis despite open LTR. Fisher's exact and Mann-Whitney tests were used to detect differences in categorical and continuous clinical data between patients with and without treatment-resistant stenosis. Time-to-decannulation analysis of both groups was performed using Kaplan-Meier analysis and evaluated with log-rank and Cox proportional hazards regression. Multivariate logistical regression was used to assess the validity of associations found in univariate analysis. RESULTS: As expected, the 27 patients with postoperative stenosis were less likely to be decannulated (P < .001, Fisher's Exact), more likely to require a postoperative tracheostomy (P < .001, Fisher's Exact) or revision LTR (P < .001, Fisher's Exact) and had prolonged time to decannulation (P < .001, Log-rank). Children with Grade IV SGS (P = .004, Fisher's Exact), and those with longer suprastomal stent duration (P = .03, Fisher's Exact) were more likely to suffer from recalcitrant stenosis. Stent duration longer than 4 weeks (P = .01) contributed to refractory stenosis when controlling for all aforementioned variables using multivariable logistic regression. Interposition grafts had a protective effect (P = .005). CONCLUSION: Maintaining suprastomal stents over 4 weeks after LTR increases the risk for postoperative stenosis and its sequelae.
Asunto(s)
Laringoestenosis , Complicaciones Posoperatorias , Humanos , Estudios Retrospectivos , Masculino , Femenino , Laringoestenosis/cirugía , Laringoestenosis/etiología , Preescolar , Lactante , Niño , Estenosis Traqueal/cirugía , Estenosis Traqueal/etiología , Procedimientos de Cirugía Plástica/métodos , Factores de Riesgo , TraqueostomíaRESUMEN
OBJECTIVES: Pediatric cochlear implantation (CI) provides sound perception to children with significant sensorineural hearing loss and, despite its challenging process, early implantation can enhance children's speech/language outcomes and potentially improve parental quality of life (PQoL). This study aims to examine parental perspectives on quality of life and parenting children with CI. METHODS: This study combined retrospective chart review and parent reported outcomes. Data were abstracted from medical charts of 85 children who underwent CI between 2016 and 2022 at a tertiary pediatric hospital. Parents were administered the Acceptance and Action Questionnaire (AAQ-MCHL), an 8-item self-report assessment of quality of life for parents of children with CI. Multivariate linear regression analyses examined clinical factors associated with PQoL scores. RESULTS: Parents whose children were implanted at less than two years of age reported significantly higher PQoL, indicated by lower AAQ scores, with a mean AAQ-MCHL of 7.6 + 5.7. In contrast, implantation at age >2 years yielded a mean AAQ-MCHL of 16.2 + 9.6. Parents interviewed within one year post-surgery reported lower PQoL, with a mean AAQ-MCHL of 12.3 + 8.8 compared to those interviewed after one year, with 20.5 + 10.4. CONCLUSION: Early identification of profound hearing loss in children, coupled with early surgical CI, may be associated with higher parental quality of life. The beneficial outcomes appear to be potentiated over time. Further research is essential to fully comprehend the impact of CI on the quality of life of children and their parents.
Asunto(s)
Implantación Coclear , Implantes Cocleares , Sordera , Pérdida Auditiva Sensorineural , Percepción del Habla , Niño , Humanos , Preescolar , Calidad de Vida , Estudios Retrospectivos , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/cirugía , Padres , Sordera/cirugíaRESUMEN
OBJECTIVES: To evaluate how patient characteristics and surgical techniques influence the rate of and time to decannulation after pediatric revision laryngotracheal reconstruction. METHODS: The study was a retrospective cohort investigation of children with a history of laryngotracheal stenosis treated between 2008 and 2021 with revision open airway surgery. The primary outcome evaluated was decannulation. The secondary outcome analyzed was time to decannulation. RESULTS: Thirty-nine children were included in the study with median age 49 months; 61.5% were male. Children undergoing single stage revision surgery were far more likely to be decannulated (OR 6.25, 95% CI 1.33-45.97, p = 0.0343). Rolling logistic regression of the probability of decannulation stratified by time between open surgeries demonstrated significantly decreased chance of decannulation with reoperation within 6 months. Children managed with anterior/posterior grafting compared with a single graft were observed to have an increased time to decannulation, (HR 0.365, 95% CI 0.148-0.899, p = 0.005, Log-Rank). CONCLUSION: We observe that in the case of revision pediatric open airway surgery, chance of decannulation is improved when surgery is performed in a single stage as well as 6 months after the most recent procedure. Patients and families should be counseled that complex stenosis requiring double stage procedures or anterior/posterior grafting is associated with a decreased probability of decannulation and increased postoperative time with a tracheostomy, respectively. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:1926-1932, 2024.
Asunto(s)
Laringoestenosis , Procedimientos de Cirugía Plástica , Humanos , Niño , Masculino , Preescolar , Femenino , Estudios Retrospectivos , Constricción Patológica/cirugía , Resultado del Tratamiento , Laringoestenosis/cirugíaRESUMEN
OBJECTIVE: To review and summarize recently published key articles on the topics of animal models, cell culture studies, tissue biomedical engineering and regeneration, and new models in relation to otitis media (OM). DATA SOURCE: Electronic databases: PubMed, National Library of Medicine, Ovid Medline. REVIEW METHODS: Key topics were assigned to the panel participants for identification and detailed evaluation. The PubMed reviews were focused on the period from June 2019 to June 2023, in any of the objective subject(s) or keywords listed above, noting the relevant references relating to these advances with a global overview and noting areas of recommendation(s). The final manuscript was prepared with input from all panel members. CONCLUSIONS: In conclusion, ex vivo and in vivo OM research models have seen great advancements in the past 4 years. From the usage of novel genetic and molecular tools to the refinement of in vivo inducible and spontaneous mouse models, to the introduction of a wide array of reliable middle ear epithelium (MEE) cell culture systems, the next five years are likely to experience exponential growth in OM pathophysiology discoveries. Moreover, advances in these systems will predictably facilitate rapid means for novel molecular therapeutic studies.
Asunto(s)
Otitis Media , Animales , Ratones , Humanos , Otitis Media/tratamiento farmacológico , Oído Medio , Modelos Animales de Enfermedad , Ingeniería Biomédica , Técnicas de Cultivo de CélulaRESUMEN
OBJECTIVES: The goal of this study was to assess the feasibility of the implementation of a mentoring network program based on expressed interest and the diverse composition of the otitis media research community in order to address attrition of the scientific workforce. METHODS: An online survey was sent to basic, translational, and clinical researchers with a known interest in otitis media. RESULTS: Of 509 eligible participants, 119 (23.4%) responded to the survey. Survey respondents had a diverse background by completed education, current job description, and membership in an underrepresented group in science. Most faculty respondents (76.4%) were willing to participate in the proposed program as mentors and faculty lecturers, or had early-career researchers or trainees in their research group who were willing to participate as mentees in the mentoring network. Scientific and non-scientific topics for inclusion in the training program were ranked, with immunology and inflammation, microbiology, science leadership and collaboration, mentoring, and grantsmanship as main foci of interest among respondents. CONCLUSION: Our survey results showed enthusiastic participation among responding otitis media researchers, indicating the feasibility of implementing a mentoring network program that will address workforce attrition, particularly among underrepresented groups in science.
Asunto(s)
Tutoría , Otitis Media , Humanos , Tutoría/métodos , Mentores , Estudios de Factibilidad , DocentesRESUMEN
PURPOSE: MPOX has numerous otolaryngologic presentations that have been recognized as clinically important, especially with the onset of the 2022 outbreak. However, how these features vary across region and outbreak have yet to be elucidated or supported by meta-analysis. The objective of this study is to identify the otolaryngologic manifestations of MPOX across previous and current outbreaks and among endemic and non-endemic regions. BASIC PROCEDURES: Data sources of MEDLINE (PubMed), the Cochrane Library, Scopus, Embase, Web of Science, Google Scholar, and OpenGrey were searched through August 2022. All observational studies reporting data on laboratory-confirmed MPOX patients with otolaryngologic symptoms were included. Two authors independently performed the screening process while a third resolved disagreements. Data were extracted into a structured form by two authors independently. We performed a meta-analysis of the prevalence of otorhinolaryngologic symptoms using MetaXL software (version 5.3) under a random-effects model. MAIN FINDINGS: 38 studies with 5952 patients were included. The four most prevalent manifestations were headache at 31 % (95 % CI [0.16-0.49], I 2 = 99 %), sore throat at 22 % (95 % CI [0.09-0.37], I 2 = 99 %), cough at 16 % (95 % CI [0.05-0.30], I 2 = 99 %), and cervical lymphadenopathy at 10 % (95 % CI [0.01-0.26], I 2 = 100 %). Otolaryngologic features were more prevalent in previous outbreaks as compared to the 2022 outbreak including 37 % prevalence of headache (95 % CI [0.11-0.66], I 2 = 100 %), 33 % prevalence of cough (95 % CI [0.21-0.47], I 2 = 98 %), 27 % prevalence of sore throat (95 % CI [0.07-0.53], I 2 = 99 %), 15 % prevalence of cervical lymphadenopathy (95 % CI [0.00-0.428], I 2 = 100 %), 13 % prevalence of oral ulcers (95 % CI [0.02-0.30], I 2 = 99 %), 6 % prevalence of oral exanthem (95 % CI [0.00-0.17], I 2 = 99 %), 5 % prevalence of dysphagia (95 % CI [0.00-0.18], I 2 = 99 %), and 5 % prevalence of tonsillar signs (95 % CI [0.00-0.13], I 2 = 99 %). Features that were more prevalent in endemic areas versus non-endemic areas include 27 % prevalence of cough (95 % CI [0.14-0.41], I 2 = 99 %), 15 % prevalence of oral ulcers (95 % CI [0.02-0.36], I 2 = 99 %), 6 % prevalence of tonsillar signs (95 % CI [0.00-0.18], I 2 = 99 %), and 19 % prevalence of cervical lymphadenopathy (95 % CI [0.00-0.48], I 2 = 100 %), while the only feature more prevalent in non-endemic areas was headache with a prevalence of 36 % (95 % CI [0.24-0.47], I 2 = 96 %). PRINCIPAL CONCLUSIONS: In this systematic review and meta-analysis, four symptoms - headache, sore throat, cough, and cervical lymphadenopathy - were found to be the most prevalent otolaryngologic features of MPOX. Otolaryngologic manifestations of MPOX were more pronounced in prior outbreaks and in endemic areas as compared to the 2022 outbreak and non-endemic areas. These findings may aid MPOX recognition in an otolaryngology setting.
Asunto(s)
Linfadenopatía , Mpox , Úlceras Bucales , Otolaringología , Faringitis , Humanos , Tos , Cefalea/epidemiología , Cefalea/etiología , Dolor , Faringitis/epidemiología , Mpox/complicacionesRESUMEN
INTRODUCTION: There has been a notable increase in the number of neonates born 28 weeks gestational age or younger in the United States. Many of these patients require tracheostomy early in life and subsequent laryngotracheal reconstruction (LTR). Although extremely premature infants often undergo LTR, there is no known study to date examining their post-surgical outcomes. OBJECTIVES: To compare decannulation rates, time to decannulation and complication rates between LTR patients born extremely premature to those born preterm and term. METHODS: We identified 179 patients treated at a stand-alone tertiary children's hospital who underwent open airway reconstruction from 2008 to 2021. A Chi Squared test was used to detect differences in categorical clinical data between the groups of patients. A Mann-Whitney test was used to analyze continuous data within these same groups. Time to decannulation analysis was performed using Kaplan Meier analysis and evaluated with log-rank and Cox proportional hazards regression. RESULTS: Children born extremely premature were more likely to incur complications following LTR (OR = 2.363, p = 0.005, CI 1.295-4.247). There was no difference in time to decannulation (p = 0.0543, Log-rank) or rate of decannulation (OR = 0.4985, p = 0.05, CI 0.2511-1.008). Extremely premature infants were more likely to be treated with an anterior and posterior grafts (OR = 2.471, p = 0.004, CI 1.297-4.535) and/or an airway stent (OR = 3.112, p < 0.001, CI 1.539-5.987). CONCLUSION: Compared with all other patients, extremely premature infants have equivalent decannulation success, but are at an increased risk for complications following LTR. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:3608-3614, 2023.
Asunto(s)
Laringoestenosis , Estenosis Traqueal , Lactante , Recién Nacido , Humanos , Niño , Laringoestenosis/etiología , Estenosis Traqueal/cirugía , Resultado del Tratamiento , Estudios Retrospectivos , Traqueostomía/efectos adversosRESUMEN
OBJECTIVES: The purpose of this study is to evaluate for discrepancies in diagnostic auditory brainstem responses (ABR) between Children's National Hospital (CNH), a pediatric medical center, and outside facilities (OSF) that referred patients to CNH for confirmatory evaluation. Such discrepancies impact early hearing detection and intervention (EHDI) timelines. METHODS: A retrospective chart review was conducted from an internal database of patients who underwent diagnostic ABR from 2017 to 2021. Only patients with ABR results from both CNH and OSF were analyzed. Demographic data, external and internal test results, and intervention data were obtained. Hearing loss (HL) severity was graded on a scale of 0 to 8, where 0 indicated normal hearing and 8 indicated profound. Each ear was analyzed separately. RESULTS: Forty-nine patients met the inclusion criteria, and each ear was evaluated separately. Median HL severity was 1.0 [0.0, 4.3] at CNH compared to 3.0 [1.8, 6] at OSF (p = 0.004). Forty-seven ears (48.0%) showed lower severity at CNH. Twenty-seven patients (55%) received hearing amplification devices. The median age at time of hearing intervention was 220 days. CONCLUSION: Our results showed statistical significance in the median severity of HL between CNH and OSF. A substantial proportion (70%) of children in our dataset who received amplification via cochlear implant or hearing aids were shown to have discrepancies in ABR findings from CNH and OSF. These findings have implications with regards to the appropriate usage of health care resources and maintaining EDHI timelines. LEVEL OF EVIDENCE: 4 (Retrospective Cohort Study) Laryngoscope, 133:3571-3574, 2023.
Asunto(s)
Implantación Coclear , Sordera , Pérdida Auditiva , Niño , Humanos , Lactante , Potenciales Evocados Auditivos del Tronco Encefálico , Estudios Retrospectivos , Pérdida Auditiva/diagnósticoRESUMEN
OBJECTIVES: To describe the long-term outcomes related to breathing, feeding, and neurocognitive development in extremely premature infants requiring tracheostomy. STUDY DESIGN: Pooled cross-sectional survey. SETTING: Multi-institutional academic children's hospitals. METHODS: Extremely premature infants who underwent tracheostomy between January 1, 2012, and December 31, 2019, at four academic hospitals were identified from an existing database. Information was gathered from responses to a questionnaire by caregivers regarding airway status, feeding, and neurodevelopment 2-9 years after tracheostomy. RESULTS: Data was available for 89/91 children (96.8%). The mean gestational age was 25.5 weeks (95% CI 25.2-25.7) and mean birth weight was 0.71 kg (95% CI 0.67-0.75). Mean post gestational age at tracheostomy was 22.8 weeks (95% CI 19.0-26.6). At time of the survey, 18 (20.2%) were deceased. 29 (40.8%) maintained a tracheostomy, 18 (25.4%) were on ventilatory support, and 5 (7%) required 24-h supplemental oxygen. Forty-six (64.8%) maintained a gastrostomy tube, 25 (35.2%) had oral dysphagia, and 24 (33.8%) required a modified diet. 51 (71.8%) had developmental delay, 45 (63.4%) were enrolled in school of whom 33 (73.3%) required special education services. CONCLUSIONS: Tracheostomy in extremely premature neonates is associated with long term morbidity in the pulmonary, feeding, and neurocognitive domains. At time of the survey, about half are decannulated, with a majority weaned off ventilatory support indicating improvement in lung function with age. Feeding dysfunction is persistent, and a significant number will have some degree of neurocognitive dysfunction at school age. This information may help caregivers regarding expectations and plans for resource management.
Asunto(s)
Recien Nacido Extremadamente Prematuro , Traqueostomía , Recién Nacido , Lactante , Niño , Humanos , Estudios Transversales , Estudios Retrospectivos , Peso al NacerRESUMEN
BACKGROUND: Interviews for Pediatric Otolaryngology fellowship rapidly transitioned to virtual interviews mid-cycle in March 2020 due to the COVID-19 pandemic. OBJECTIVE: This study aims to describe perspectives on virtual versus in-person interviews for both applicants and program directors. METHODS: Cross-sectional study. Surveys were conducted of all Pediatric Otolaryngology fellowship applicants participating in the San Francisco Match and program directors in 2020 and 2021. RESULTS: Out of 32 U.S. trained fellowship applicants, 24 completed the survey in 2020 and 18 in 2021. While 70% of applicants felt they did not get the same experience with virtual interviews, 75% did not feel it changed how they ranked programs. Applicant perception of virtual interviews improved in 2021, with the majority (56%) preferring virtual interviews if provided an option. Twenty out of 36 fellowship directors completed the survey in 2020, and eighteen in 2021. While fellowship directors continued to prefer in-person in 2021, an increased number (10% in 2020, 30% in 2021) felt continuing with virtual interviews may increase the number of applicants in the future. CONCLUSION: Based on the survey, both applicants and fellowship directors had a less favorable perception of virtual interviews compared to in-person interviews initially; however, applicant perception favored virtual interviews in 2021, while Program Directors continued to prefer in-person.
Asunto(s)
COVID-19 , Internado y Residencia , Otolaringología , Niño , Humanos , Estudios Transversales , Becas , Pandemias , COVID-19/epidemiología , Actitud , Encuestas y CuestionariosRESUMEN
Most studies of adaptive immunity to SARS-CoV-2 infection focus on peripheral blood, which may not fully reflect immune responses at the site of infection. Using samples from 110 children undergoing tonsillectomy and adenoidectomy during the COVID-19 pandemic, we identified 24 samples with evidence of previous SARS-CoV-2 infection, including neutralizing antibodies in serum and SARS-CoV-2-specific germinal center and memory B cells in the tonsils and adenoids. Single-cell B cell receptor (BCR) sequencing indicated virus-specific BCRs were class-switched and somatically hypermutated, with overlapping clones in the two tissues. Expanded T cell clonotypes were found in tonsils, adenoids and blood post-COVID-19, some with CDR3 sequences identical to previously reported SARS-CoV-2-reactive T cell receptors (TCRs). Pharyngeal tissues from COVID-19-convalescent children showed persistent expansion of germinal center and antiviral lymphocyte populations associated with interferon (IFN)-γ-type responses, particularly in the adenoids, and viral RNA in both tissues. Our results provide evidence for persistent tissue-specific immunity to SARS-CoV-2 in the upper respiratory tract of children after infection.
Asunto(s)
COVID-19 , SARS-CoV-2 , Humanos , Niño , Pandemias , Inmunidad Adaptativa , Tonsila Palatina , Anticuerpos AntiviralesRESUMEN
OBJECTIVE: To identify factors predicting success in slide tracheoplasty surgery at a regional children's hospital and compare with available published literature. MEASURES: Retrospective chart review comparing demographics (age, weight) and clinical (operative and hospital course, need for additional airway intervention) factors experienced with slide tracheoplasty. Findings were compared with a systematic review of published literature. RESULTS: Of the 16 tracheal stenosis patients in our cohort, 13 (81.3%) presented with an additional congenital or cardiovascular anomaly. When adjusted for cardiovascular anomalies, congenital tracheal stenosis patients had a mean age of 5.2 months (range 6 days-17 months), mean weight of 5.04 kg, and average ICU and hospital length of stay of 31.5 and 36.0 days, respectively. Tracheostomy was required for 4 patients and no early deaths were recorded. Of the 391 children in the grouped cohort, mean age and weight was older at 7.67 months and larger at 5.70 kg. Length of stay in both ICU and overall hospital course was 31.6 and 43.5 days, respectively. Mortality etiology for 44 patients was reported: 17 (38.6%) cardiac-related and 28 (63.6%) late mortalities. Our overall calculated mortality risk of 1.26 (P < .05) was lower than reported ratios of 2.0+. CONCLUSION: Despite the numerous institutional studies involving tracheal stenosis, mortality and surgical challenges remain high. Future studies with the inclusion of specific perioperative data can prove to further evaluate correlations between presentation characteristics and mortality.
Asunto(s)
Estenosis Traqueal , Niño , Humanos , Lactante , Recién Nacido , Estenosis Traqueal/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Tráquea/cirugíaRESUMEN
OBJECTIVE: To determine the prevalence of COVID-19 in a cohort of children undergoing tonsillectomy through assessment of B cell immune responses to SARS-CoV-2 in both peripheral blood and tonsil tissue. METHODS: In this cohort study at a tertiary pediatric hospital (Children's National Hospital) in Washington, DC, we recruited 100 children undergoing tonsillectomy from late September 2020 to January 2021. Serum, peripheral blood cells, and tonsil tissue were collected and examined for immune reactivity to SARS-CoV-2. Parent-reported clinical histories were compared to antibody and B-cell responses. RESULTS: Among 100 children undergoing tonsillectomy, 19% had evidence of immune responses to SARS-CoV-2 (CoV2+), indicating prior COVID-19. In all seropositive participants, we detected SARS-CoV-2 specific B cells in both peripheral blood mononuclear cells and tonsils, providing evidence for tissue-specific immunity in these children. Of the 19, 63% reported no known history of COVID-19, and an additional 3 were asymptomatic or unaware of an acute infection when detected on pre-surgery screen. Hispanic children represented 74% of CoV2+ subjects compared to 37% of the full cohort. 100% of CoV2+ children lived in a zip code with poverty level >10%. CONCLUSIONS: Nearly one-fifth of children undergoing tonsillectomy at an urban U.S. hospital had evidence of prior COVID-19 during the early pandemic, with the majority unaware of prior infection. Our results underscore the ethnic and socio-economic disparities of COVID-19. We found concordant evidence of humoral immune responses in children in both blood and tonsil tissue, providing evidence of local immune responses in the upper respiratory tract. LEVEL OF EVIDENCE: 3 Laryngoscope, 133:1993-1999, 2023.
Asunto(s)
COVID-19 , Tonsilectomía , Humanos , Niño , COVID-19/epidemiología , SARS-CoV-2 , Estudios de Cohortes , Prevalencia , Leucocitos Mononucleares , InmunidadRESUMEN
Aldehyde Dehydrogenase 1, Family Member A2 (ALDH1A2) is essential for the synthesis of retinoic acid from vitamin A. Studies in model organisms demonstrate a critical role for ALDH1A2 in embryonic development, yet few pathogenic variants are linked to congenital anomalies in humans. We present three siblings with multiple congenital anomaly syndrome linked to biallelic sequence variants in ALDH1A2. The major congenital malformations affecting these children include tetralogy of Fallot, absent thymus, diaphragmatic eventration, and talipes equinovarus. Upper airway anomalies, hypocalcemia, and dysmorphic features are newly reported in this manuscript. In vitro functional validation of variants indicated that substitutions reduced the expression of the enzyme. Our clinical and functional data adds to a recent report of biallelic ALDH1A2 pathogenic variants in two families with a similar constellation of congenital malformations. These findings provide further evidence for an autosomal recessive ALDH1A2-deficient recognizable malformation syndrome involving the diaphragm, cardiac and musculoskeletal systems.
Asunto(s)
Tretinoina , Niño , Humanos , Familia de Aldehído Deshidrogenasa 1/genética , Familia de Aldehído Deshidrogenasa 1/metabolismo , Tretinoina/metabolismo , Retinal-Deshidrogenasa/genéticaRESUMEN
BACKGROUND: Down Syndrome (DS) patients are more susceptible to either congenital or acquired subglottic stenosis (SGS). This often creates a multilevel airway obstruction and can lead to tracheostomy dependence early in life. As a result, they may require Laryngotracheal Reconstruction (LTR) to achieve decannulation. The primary objective of this study was to assess decannulation rates, time to decannulation and potential barriers to decannulation in DS patients undergoing LTR. METHODS: We performed a retrospective chart review from 2008 to 2021 of 193 children who underwent LTR for treatment for laryngotracheal stenosis at a stand-alone tertiary children's hospital. The relationship between clinical data and decannulation status was evaluated using multivariable logistic regression and Fisher exact tests. Time to decannulation analysis was performed using Kaplan Meier analysis and evaluated with log-rank and Cox proportional hazards regression. RESULTS: We determined that DS patients carry an inherit risk for decannulation failure compared to the general population (OR: 6.112, P = . 044, CI 1.046-35.730). Of the 8 patients with DS only three were decannulated. Overall, patients with Trisomy 21 had a significantly increased time to decannulation when compared to all LTR patients (P = .008, Log-rank). We found that these patients are more likely to have both suprastomal collapse (P = .0004, Fischer's Exact) and Tracheomalacia (P = .034, Fischer's Exact) compared to all other LTR patients. While post-operative tracheomalacia did not significantly affect decannulation failure (P = .056, Fischer's Exact) it did significantly prolong decannulation in all LTR patients (P = .018, Log-rank). CONCLUSION: Trisomy 21 patients are at an increased risk for decannulation failure. Our study illustrates that these poor outcomes are likely a result of conditions more commonly found in this cohort including: narrow tracheal caliber, tracheomalacia and hypotonia.
Asunto(s)
Síndrome de Down , Laringoestenosis , Procedimientos de Cirugía Plástica , Estenosis Traqueal , Traqueomalacia , Niño , Humanos , Lactante , Síndrome de Down/complicaciones , Síndrome de Down/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Traqueomalacia/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Laringoestenosis/cirugía , Laringoestenosis/etiología , Estenosis Traqueal/complicacionesRESUMEN
Objective: To identify characteristics of acute otitis media (AOM) at primary care presentation associated with TT placement and outcomes. Methods: A retrospective cohort study of pediatric patients (birth-12 years old) with AOM at an academic primary care pediatric practice and affiliated tertiary referral free-standing Children's hospital from August 1, 2017 to December 31, 2019 was performed. The outcomes measured were TT placement, postoperative otorrhea, need for additional tube placement, and other complications (i.e., perforation and/or granulation). Results: The 3189 patients were included, 484 of whom were referred to otolaryngology. Multivariate logistic regression analysis revealed that a greater number of AOM episodes diagnosed at primary care was associated with tube placement (OR = 1.21; 95% CI, 1.04-1.41, p = .02). Of the 336 patients who received tubes, older age at first AOM diagnosis was associated with postoperative otorrhea (OR = 1.02; 95% CI, 1.01-1.03; p = .001) and additional tube placement (OR = 1.03; 95% CI, 1.02-1.04; p < .001). Older age was also associated with other complications (OR = 1.02; 95% CI, 1.01-1.03; p = .001) by univariate analysis. Additionally, postoperative otorrhea was more common among patients who first received an AOM diagnosis at primary care in the spring (OR = 2.69; 95% CI, 1.37-5.29; p = .004), summer (OR = 2.88; 95% CI, 1.46-5.69; p = .002), and fall (OR = 2.18; 95% CI, 1.20-3.96; p = .01) seasons. Conclusions: Clinical data from pediatric primary care visits found older age at first AOM diagnosis and having a first AOM diagnosis outside of winter to be associated with a more complicated eventual disease course. Level of evidence: 3-cohort study.
RESUMEN
We present a topical drug delivery mechanism through the ear canal to the middle and inner ear using liposomal nanoparticles without disrupting the integrity of the tympanic membrane. The current delivery method provides a noninvasive and safer alternative to transtympanic membrane injections, ear tubes followed by ear drops administration, and systemic drug formulations. We investigate the capability of liposomal NPs, particularly transfersomes (TLipo), used as drug delivery vesicles to penetrate the tympanic membrane (TM) and round window membrane (RWM) with high affinity, specificity, and retention time. The TLipo is applied to the ear canal and found to pass through the tympanic membrane quickly in 3 h post drug administration. They are identified in the middle ear cavity 6 h and in the inner ear 24 h after drug administration. We performed cytotoxicity in vitro and ototoxicity in vivo studies. Cell viability shows no significant difference between the applied TLipo concentration and control. Furthermore, auditory brainstem response (ABR) reveals no hearing loss in 1 week and 1 month post-administration. Immunohistochemistry results demonstrate no evidence of hair cell loss in the cochlea at 1 month following TLipo administration. Together, the data suggested that TLipo can be used as a vehicle for topical drug delivery to the middle ear and inner ear.
Asunto(s)
Enfermedades del Oído , Oído Interno , Enfermedades del Laberinto , Cóclea , Sistemas de Liberación de Medicamentos , Enfermedades del Oído/tratamiento farmacológico , Humanos , Ventana Redonda/fisiologíaRESUMEN
INTRODUCTION: Juvenile-onset RRP (JoRRP) is considered a rare disease with high morbidity and healthcare costs. The management of RRP has received much scientific attention in recent years and several treatment methodologies have been explored, including therapeutic use of HPV vaccine. There has been increasing interest in the off-label use of the vaccine in virus-induced disease processes such as RRP, due to its immunomodulatory effect and activating role on the innate and adaptive immune system. This review explores the efficacy of the HPV vaccination as a therapeutic tool in the pediatric population. METHODS: The review of the English literature included three electronic databases, PubMed, SCOPUS, and Cochrane, without publication date restrictions. Studies and reports identified by the database search were reviewed and assessed by two independent reviewers. RESULTS: The literature searches identified 768 unique citations, from which 204 duplicates were removed (n = 564). A total of 547 articles were excluded as they did not meet our inclusion criteria. A total of 12 studies (3 experimental studies, 3 case series, 6 case reports) that met the inclusion criteria and reported one or more of the outcomes of interest were included for our review. The assessment of the outcome measures evaluated (number of surgeries during the follow-up period, ISI, SPM, Derkay or severity scores, and remission status) revealed that eight out of 12 studies included in the review showed varying degrees of potential benefits from the administration of the vaccine as a treatment modality compared to surgical interventions and/or concurrent adjuvant therapies alone. CONCLUSION: We conclude that while the therapeutic use of HPV vaccination has shown promise for some JoRRP patients, it overall remains uncertain with the currently available data. There is a need for a prospective multi-centric trial with a larger sample size to fully characterize the potential use of the vaccine in the management of JoRRP.
Asunto(s)
Infecciones por Papillomavirus , Vacunas contra Papillomavirus , Infecciones del Sistema Respiratorio , Niño , Humanos , Terapia Combinada , Papillomavirus Humano 11 , Papillomavirus Humano 6 , Infecciones por Papillomavirus/epidemiología , Vacunas contra Papillomavirus/uso terapéutico , Infecciones del Sistema Respiratorio/tratamiento farmacológicoRESUMEN
BACKGROUND: Clinicians in the authors' primary care academic practice have anecdotally perceived an increased use of intramuscular (IM) ceftriaxone, particularly for otitis-conjunctivitis in recent years (pre-pandemic). Increasing rates of ceftriaxone administration for acute otitis media (AOM) may be an important marker of antimicrobial resistance. OBJECTIVE: We aimed to characterize the population of patients who received ceftriaxone for treatment of AOM, testing our hypothesis that patients with concomitant conjunctivitis would have increased rates of ceftriaxone receipt. DESIGN/METHODS: We reviewed cases of AOM at a large U.S. primary care practice from August 2017 to July 2019. We determined the association between each of the following variables and ceftriaxone injection using multivariate analysis: age at AOM diagnosis, provider type, insurance (public vs private), season of year, and presence of conjunctivitis. RESULTS: There were 6028 AOM episodes in 5195 patients resulting in a total of 7688 patient encounters. Of these episodes, 642 (10.7%) had a concurrent diagnosis of conjunctivitis; 362 (6.0%) ultimately received ceftriaxone. Conjunctivitis was the strongest predictor of treatment with ceftriaxone. The proportion of episodes with conjunctivitis treated with ceftriaxone was 14.5% (93/642) versus 5.0% (269/5386) without conjunctivitis (p < 0.0001). Patients who received ceftriaxone were younger; mean age (SD) for patients receiving ceftriaxone was 14.0 (8.8) months versus 25.0 (23.4) months (p < 0.0001). CONCLUSION(S): There is a strong correlation between the presence of conjunctivitis and receipt of IM ceftriaxone in this large U.S. academic primary care clinic. Younger age was also associated with ceftriaxone treatment. Further study on emerging resistance patterns and implications for management of AOM in young children is warranted.