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BACKGROUND/AIMS: The pediatric Difficult Airway Consultation Service (pDACS) was created in 2017 to identify patients with potentially difficult airways and create airway management plans prior to airway management. METHODS: Consults were either nurse-initiated, physician-initiated, or both nurse-and-physician-initiated and were examined for demographic and clinical factors. If a child had difficult airway risk factors, a consult note with airway management recommendations was completed. RESULTS: We included 419 consults from the 4-year study period for analysis. Sixty-one patients had chronic tracheostomies in place and thus, were analyzed separately. Of the remaining 358 consults, 50% (n = 179) were nurse-initiated, 30.2% (n = 108) physician-initiated, and 19.8% (n = 71) nurse-and-physician-initiated consults. Differences in observed frequency of airway edema (difference, 6.3%; 95%CI 0.1%-12.5%; p = .04), cleft lip/palate (difference, 8.1%; 95%CI 0.07%-16.3%, p = .04), craniofacial abnormalities (difference, 12.3%; 95%CI 1.9%-22.7%, p = .02), and trauma/burn (difference, 6.5%; 95%CI 0.09%-12.8%, p = .04) were calculated. Observed frequencies were higher in physician-initiated compared to nurse-initiated consults. Airway edema was also more prevalent in dual nurse-and-physician-initiated consults (difference, 8.7%; 95%CI 1.6%-15.8%; p = .01). Physician-initiated consults were associated with a greater proportion of high-risk difficult airways than nurse-initiated consults (difference, 26.7%; 95%CI 14.0%-39.4%, p < .001). Approximately 41.9% of patients at high-risk for having a difficult airway were identified by nurse-screening only. Using bag-valve-mask was often the primary ventilation recommendation (89.3%, n = 108) and supraglottic airway placement was the most common tertiary plan (74.2%, n = 83). Direct laryngoscopy (47.1%, n = 65) and videolaryngoscopy (40.6%, n = 56) were the most recommended modes of intubation. Three patients with airway emergencies had previously documented airway management plans and were successfully intubated without complications following the primary intubation technique recommended in their consult note. CONCLUSIONS: In our study, nurse-screening identified patients at high-risk for a difficult airway that would likely not have been identified prior to initiation of a screening protocol. Furthermore, airway management plans outlined prior to an emergent difficult airway event may increase first-attempt success at securing the difficult airway, reducing morbidity and mortality.
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BACKGROUND: HIV-infection is associated with increased mortality during multidrug-resistant tuberculosis treatment, but the extent to which the use of antiretroviral therapy (ART) and anti-tuberculosis medications modify this risk are unclear. Our objective was to evaluate how use of these treatments altered mortality risk in HIV-positive adults with multidrug-resistant tuberculosis. METHODS: We did an individual patient data meta-analysis of adults 18 years or older with confirmed or presumed multidrug-resistant tuberculosis initiating tuberculosis treatment between 1993 and 2016. Data included ART use and anti-tuberculosis medications grouped according to WHO effectiveness categories. The primary analysis compared HIV-positive with HIV-negative patients in terms of death during multidrug-resistant tuberculosis treatment, excluding those lost to follow up, and was stratified by ART use. Analyses used logistic regression after exact matching on country World Bank income classification and drug resistance and propensity-score matching on age, sex, geographic site, year of multidrug-resistant tuberculosis treatment initiation, previous tuberculosis treatment, directly observed therapy, and acid-fast-bacilli smear-positivity to obtain adjusted odds ratios (aORs) and 95% CIs. Secondary analyses were conducted among those with HIV-infection. FINDINGS: We included 11â920 multidrug-resistant tuberculosis patients. 2997 (25%) were HIV-positive and on ART, 886 (7%) were HIV-positive and not on ART, and 1749 (15%) had extensively drug-resistant tuberculosis. By use of HIV-negative patients as reference, the aOR of death was 2·4 (95% CI 2·0-2·9) for all patients with HIV-infection, 1·8 (1·5-2·2) for HIV-positive patients on ART, and 4·2 (3·0-5·9) for HIV-positive patients with no or unknown ART. Among patients with HIV, use of at least one WHO Group A drug and specific use of moxifloxacin, levofloxacin, bedaquiline, or linezolid were associated with significantly decreased odds of death. INTERPRETATION: Use of ART and more effective anti-tuberculosis drugs is associated with lower odds of death among HIV-positive patients with multidrug-resistant tuberculosis. Access to these therapies should be urgently pursued. FUNDING: American Thoracic Society, Canadian Institutes of Health Research, US Centers for Disease Control and Prevention, European Respiratory Society, Infectious Diseases Society of America.
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Fármacos Anti-HIV/uso terapêutico , Antituberculosos/uso terapêutico , Infecções por HIV/tratamento farmacológico , Infecções por HIV/mortalidade , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Tuberculose Resistente a Múltiplos Medicamentos/mortalidade , Adulto , Feminino , Infecções por HIV/complicações , Humanos , Masculino , Fatores de Risco , Tuberculose Resistente a Múltiplos Medicamentos/complicaçõesRESUMO
Central giant cell granuloma is a benign, intraosseous lesion that may affect the pediatric craniofacial skeleton, particularly the mandible. When surgery is indicated, the role of the craniofacial surgeon is to ameliorate the sequelae of ablative surgery by restoring facial symmetry, ensuring appropriate postoperative occlusion, and allowing for adequate interincisal opening, all in the setting of a growing craniofacial skeleton. Herein, we report the case of a 3-year-old female presenting for reconstruction after resection of the right hemimandible proximal to the unerupted first permanent molar. We highlight the various reconstructive challenges associated with mandibular reconstruction during primary dentition and make a case for the use of a costochondral graft, with a successful outcome demonstrated at 2 years of follow-up.
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Granuloma de Células Gigantes , Reconstrução Mandibular , Criança , Pré-Escolar , Arco Dental , Feminino , Granuloma de Células Gigantes/diagnóstico por imagem , Granuloma de Células Gigantes/cirurgia , Humanos , Mandíbula , Dente DecíduoRESUMO
OBJECTIVE: Mandibular distraction osteogenesis (MDO) aims to relieve tongue-based airway obstruction in Robin Sequence (RS). We investigated direct laryngoscopy grade (DLG) improvement and difficult airway (DA) resolution following MDO. DESIGN: Retrospective cohort analysis. SETTING: Three tertiary care institutions. PATIENTS: Sixty-four infants with RS who underwent a single MDO procedure in their first year of life were identified from January 2010 to January 2019. MAIN OUTCOME MEASURES: The primary outcome was DLG pre- and post-MDO. Secondary outcomes included DA designation, pre- and post-MDO polysomnographic assessment for obstructive sleep apnea (OSA), length of stay, need for gastrostomy, and major/minor adverse events. RESULTS: Median DLG improved from II pre-MDO to I at the time of distractor removal (n = 43, P < .001). No significant change was seen in patients with a third recorded time point (eg, palatoplasty; n = 78, P = .52). Twenty-six (47%) of 55 patients were designated as DA pre-MDO, and 10 (18%) of 55 patients retained the label post-MDO (P < .01). Five (50%) of these 10 patients appeared to be inappropriately retained. Median obstructive apnea-hypopnea index improved from 38.6 (range 31.2-62.8) pre-MDO to 2.9 (range 1-3.9) post-MDO (n = 12; P = .002). CONCLUSION: Mandibular distraction osteogenesis allowed for DLG improvement that was stably maintained as well as functional improvement in OSA, with minimal morbidity. Difficult airway designation persisted in the electronic record of some infants despite clinical resolution.
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Obstrução das Vias Respiratórias , Osteogênese por Distração , Síndrome de Pierre Robin , Obstrução das Vias Respiratórias/cirurgia , Humanos , Lactente , Laringoscopia , Mandíbula/cirurgia , Síndrome de Pierre Robin/cirurgia , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: The ability to confidently predict health outcomes from gene expression would catalyze a revolution in molecular diagnostics. Yet, the goal of developing actionable, robust, and reproducible predictive signatures of phenotypes such as clinical outcome has not been attained in almost any disease area. Here, we report a comprehensive analysis spanning prediction tasks from ulcerative colitis, atopic dermatitis, diabetes, to many cancer subtypes for a total of 24 binary and multiclass prediction problems and 26 survival analysis tasks. We systematically investigate the influence of gene subsets, normalization methods and prediction algorithms. Crucially, we also explore the novel use of deep representation learning methods on large transcriptomics compendia, such as GTEx and TCGA, to boost the performance of state-of-the-art methods. The resources and findings in this work should serve as both an up-to-date reference on attainable performance, and as a benchmarking resource for further research. RESULTS: Approaches that combine large numbers of genes outperformed single gene methods consistently and with a significant margin, but neither unsupervised nor semi-supervised representation learning techniques yielded consistent improvements in out-of-sample performance across datasets. Our findings suggest that using l2-regularized regression methods applied to centered log-ratio transformed transcript abundances provide the best predictive analyses overall. CONCLUSIONS: Transcriptomics-based phenotype prediction benefits from proper normalization techniques and state-of-the-art regularized regression approaches. In our view, breakthrough performance is likely contingent on factors which are independent of normalization and general modeling techniques; these factors might include reduction of systematic errors in sequencing data, incorporation of other data types such as single-cell sequencing and proteomics, and improved use of prior knowledge.
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Aprendizado Profundo , Perfilação da Expressão Gênica , Aprendizado de Máquina , Fenótipo , Doença/genética , Humanos , Aprendizado de Máquina SupervisionadoRESUMO
We describe a 5-day-old male with minor facial anomalies, a congenital laryngeal web, severe laryngomalacia, and prominent fixed flexion of the proximal interphalangeal joints of digits 2 through 5 bilaterally. A whole genome SNP microarray analysis identified a 2.55 Mb interstitial deletion of 22q11.21, typical of that seen in the DiGeorge and Velocardiofacial syndromes. A review of the literature identifies 10 other cases with camptodactyly. Camptodactyly appears to be an associated but rarely reported anomaly in patients with the 22q11.2 microdeletion syndrome. © 2016 Wiley Periodicals, Inc.
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Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Estudos de Associação Genética , Humanos , Recém-Nascido , Masculino , Análise de Sequência com Séries de Oligonucleotídeos , Exame Físico , Polimorfismo de Nucleotídeo ÚnicoRESUMO
OBJECTIVES: Accurate and reproducible measurements of the pediatric airway are critical for diagnostic evaluation and management of subglottic and tracheal stenosis. The endoluminal functional lumen imaging probe (EndoFLIP) is a catheter-based imaging probe which utilizes impedance planimetry to calculate luminal parameters, including cross-sectional area and compliance. Herein, we demonstrate the feasibility of this system for multidimensional evaluation of the pediatric airway. METHODS: 3D-printed pediatric laryngotracheal models were created based on computed tomography scans, then artificially deformed to simulate both circumferential and posterior subglottic stenosis. Two observers made six measurements of the minimum cross-sectional area (MCSA) and length of stenosis of each model with EndoFLIP. Agreement between observer measurements and model dimensions was evaluated using Lin's concordance correlation coefficient; inter-observer reliability was assessed using intraclass correlation. RESULTS: Four models were created: two without pathology (MCSA: 132.4, 44.3 mm2 ) and two with subglottic stenosis (MCSA: 28.7, 59.7 mm2 , stenotic length 27.8, 24.4 mm). Observer measurements of MCSA and length of stenosis demonstrated high concordance with the models (r = 0.99, 0.95, p < 0.001) with a mean error of 4.5% and 18.2% respectively. There was a low coefficient of variation (0.6%-2.8%) for measurements, indicating high precision. Interrater reliability was high for both MCSA and stenotic length (ICC: 0.99, 0.98). CONCLUSIONS: The EndoFLIP system allows for accurate and reproducible measurements of cross-sectional area and stenotic length in pediatric airway models. This method may provide further advantages in the evaluation of airway distensibility, as well as measurements of asymmetric airway pathology. LEVEL OF EVIDENCE: NA Laryngoscope, 134:108-112, 2024.
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Laringoestenose , Estenose Traqueal , Humanos , Criança , Projetos Piloto , Constrição Patológica , Reprodutibilidade dos Testes , Laringoestenose/diagnóstico por imagem , Laringoestenose/patologia , Estenose Traqueal/diagnóstico por imagemRESUMO
Objective: To investigate differences in angiotensin-converting-enzyme-2 (ACE2) and bitter taste receptor (TAS2R38) expression between patient age groups and comorbidities to characterize the pathophysiology of coronavirus 19(COVID-19) pandemic. ACE2 is the receptor implicated to facilitate SARS-CoV-2 infections and levels of expression may correlate to the severity of COVID-19 infection. TAS2R38 has many non-gustatory roles in disease, with some evidence of severe COVID-19 disease in certain receptor phenotypes. Methods: We conducted a prospective cohort study and collected nasal and lingual tissue from healthy pediatric (n = 22) and adult (n = 25) patients undergoing general anesthesia for elective procedures. RNA isolation and qPCR were performed with primers targeting ACE2 and TAS2R38. Results: A total of 25 adult (52% male; 44% obese) and 22 pediatric (50% male; 36% obese) patients were enrolled, pediatric tissue had 43% more nasal ACE2 RNA expression than adults with a median fold change of 0.69 (IQR 0.37, 0.98) in adults and 0.99 (IQR 0.74, 1.43) in children (p < .05). There were no differences between the age groups in ACE2 expression of lingual tissue (p = .14) or TAS2R38 expression collected from either nasal (p = 049) or lingual tissue (p = .49). Stratifying for obesity yielded similar differences between nasal ACE2 expression between adults and children with median fold change of 0.56 (IQR 0.32, 0.87) in adults and 1.0 (IQR 0.82, 1.52) in children (p < .05). Conclusions: ACE2 receptor expression is higher in nasal tissue collected from children compared to adults, suggesting COVID-19 infectivity is more complicated than ACE2 and TAS2R38 mRNA expression. Level of Evidence: NA.
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Today's approach to medicine requires extensive trial and error to determine the proper treatment path for each patient. While many fields have benefited from technological breakthroughs in computer science, such as artificial intelligence (AI), the task of developing effective treatments is actually getting slower and more costly. With the increased availability of rich historical datasets from previous clinical trials and real-world data sources, one can leverage AI models to create holistic forecasts of future health outcomes for an individual patient in the form of an AI-generated digital twin. This could support the rapid evaluation of intervention strategies in silico and could eventually be implemented in clinical practice to make personalized medicine a reality. In this work, we focus on uses for AI-generated digital twins of clinical trial participants and contend that the regulatory outlook for this technology within drug development makes it an ideal setting for the safe application of AI-generated digital twins in healthcare. With continued research and growing regulatory acceptance, this path will serve to increase trust in this technology and provide momentum for the widespread adoption of AI-generated digital twins in clinical practice.
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Inteligência Artificial , Ensaios Clínicos como Assunto , Medicina de Precisão , Humanos , Inteligência Artificial/tendências , Medicina de Precisão/métodos , Desenvolvimento de Medicamentos/métodosRESUMO
OBJECTIVE: To determine if increasing obstructive sleep apnea syndrome (OSAS) severity, as determined by preoperative polysomnography data, is an independent risk for respiratory complications and level of follow-up care after adenotonsillectomy or tonsillectomy. METHODS: A retrospective analysis of patients ≤21 years of age with severe OSAS (obstructive apnea-hypopnea index [OAHI] >10) undergoing adenotonsillectomy or tonsillectomy. Patients were categorized based on preoperative polysomnography data (PSG). Outcome measures including respiratory complications were collected via chart review. Logistic regression was used in the analysis of all parameters, and Wilcoxon Rank Sum tests were used for analysis of both OAHI and oxygen saturation nadir as continuous variables. All surgeries were performed at Johns Hopkins Hospital, a tertiary care center. RESULTS: We identified 358 patients with severe OSAS who had adenotonsillectomy or tonsillectomy. OAHI >40 and oxygen saturation nadir <80% were significantly associated with postoperative respiratory complications. Increasing OAHI and O2 saturation <80% was each associated with unplanned continuous positive airway pressure (CPAP) initiations postoperatively. There was no association between hypercarbia and presence of any complications. CONCLUSION: Patients with very severe OSAS (preoperative OAHI ≥40) as determined by preoperative PSG may be at higher risk of developing respiratory complications postoperatively. However, there does not appear to be a linear association with increasing severity of OAHI on regression analysis. Further research is needed to understand factors associated with complications in severe and very severe OAHI. LEVEL OF EVIDENCE: 4 Laryngoscope, 134:4148-4155, 2024.
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Adenoidectomia , Polissonografia , Complicações Pós-Operatórias , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono , Tonsilectomia , Humanos , Apneia Obstrutiva do Sono/cirurgia , Apneia Obstrutiva do Sono/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Criança , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Pré-Escolar , Adenoidectomia/efeitos adversos , Adolescente , Resultado do TratamentoRESUMO
INTRODUCTION: National recommendations in the United States specify that all infants with hearing impairment should be identified by 3 months of age. Infants who fail universal newborn hearing screening (UNHS) require follow up testing after hospital discharge. Follow up testing may be difficult to obtain in some communities within the ideal time frame. A rapid access multidisciplinary clinic was established for failed UNHS. The objective of this study is to report outcomes and patient satisfaction from an early access hearing detection clinic. METHODS: Infants that failed UNHS were seen in the multidisciplinary clinic between 1/1/19 and 2/28/22. Patients underwent automated auditory brainstem response (ABR) and distortion product otoacoustic emissions testing and consulted with an otolaryngology nurse practitioner. Failed results were followed by diagnostic ABR. Surveys were administered at the beginning and end of the appointment. RESULTS: In total, 169 infants were seen at a mean age of 8.4 weeks (95%CI 7.5, 9.4). Repeat testing was abnormal in 38 (22.4%). Diagnostic ABR was performed at an average age of 13.7 weeks (n = 34, 95% CI: 10.8, 16.6) and led to a diagnosis of hearing loss in 18 infants. Twenty-seven parents completed surveys at the initial visit. Anxiety level among patients with normal repeat testing (n = 20) decreased from 1.9 to 1.2 (p = .002), while anxiety level among those with abnormal repeat testing (n = 7) was not statistically different before and after (2.1 vs 2.7, p = .2). Satisfaction level was 3.7 ± 0.7 (scored 1-4). All parents reported having a better understanding of their child's hearing problem after the visit. DISCUSSION: This novel nurse practitioner-led early hearing detection clinic enabled timely diagnosis of hearing loss and reassurance to families without hearing loss. Age at hearing loss diagnosis compares favorably to published cohorts.
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Surdez , Perda Auditiva , Humanos , Lactente , Potenciais Evocados Auditivos do Tronco Encefálico , Audição , Perda Auditiva/diagnóstico , Testes Auditivos/métodos , Triagem Neonatal/métodos , Emissões Otoacústicas Espontâneas , Satisfação do Paciente , Recém-NascidoRESUMO
Recurrent croup is a common clinical entity afflicting the pediatric population, but is not well-characterized in the literature. We describe the largest series of recurrent croup in North America from a single tertiary care academic center, and differentiate subpopulations based on demographic characteristics and clinical presentation. We identified 114 patients for inclusion. Common symptoms included barky cough (86.0%) and inspiratory stridor (60.5%). Many (26.3%) experienced full symptom resolution within a day, and 41.2% reported onset of symptoms at any time of the day. Male patients had a higher number of prior croup episodes at presentation compared with female patients (mean of 9.8 ± 8.0 in males vs 6.6 ± 4.8 in females, P = .03). On multivariate regression, racial/ethnic minority patients were at higher risk for dyspnea (odds ratio [OR]: 58.6; 95% confidence interval [CI]: 7.2-475.4) and upper respiratory infection prodrome (OR: 7.6; 95% CI: 1.6-35.3) compared with non-Hispanic white patients.
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Crupe , Criança , Humanos , Masculino , Feminino , Lactente , Crupe/diagnóstico , Etnicidade , Grupos Minoritários , Tosse , Sons Respiratórios/etiologiaRESUMO
OBJECTIVE: Parents often experience uncertainty during decision-making for their child's cochlear implantation (CI) surgery, and online forums provide insight on parental opinions that might not be expressed in clinic. This study aims to evaluate parental perspectives and concerns about pediatric CI using social media analysis. STUDY DESIGN: Qualitative study. SETTING: Three online forums involving parental posts about pediatric CI. INTERVENTION/METHODS: Forums were queried using keywords (e.g., "cochlear implant") to gather all U.S. parent-initiated posts about pediatric CI from 2006 to 2021. Thematic content analysis was performed to classify posts by overarching domain, themes, and subthemes. Posts were reviewed for thematic synthesis and double coded. Descriptive statistics were calculated for each theme by unique users. RESULTS: A total of 79 posts by 41 unique users were analyzed. Themes relating to decision for CI included facilitators, inhibitors, resources, and feelings. Parents posted about lack of benefit from hearing aids promoting decision for CI and high cost as an inhibitor. Some expressed concern about making a major decision for a minor. Parents often mentioned their child's healthcare providers and social media as resources. CONCLUSION: Through social media posts, parental priorities and concerns for decision-making of CI surgery were identified. Findings may guide discussions between physicians and parents and facilitate shared decision-making about CI.
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Implante Coclear , Implantes Cocleares , Mídias Sociais , Humanos , Criança , Pais , Pesquisa QualitativaRESUMO
Objectives: To identify trends in timing of pediatric cochlear implant (CI) care during COVID-19. Study Design: Retrospective cohort. Setting: Tertiary care center. Methods: Patients under 18 years of age who underwent CI between 1/1/2016 and 2/29/2020 were included in the pre-COVID-19 group, and patients implanted between 3/1/2020 and 12/31/2021 comprised the COVID-19 group. Revision and sequential surgeries were excluded. Time intervals between care milestones including severe-to-profound hearing loss diagnosis, initial CI candidacy evaluation, and surgery were compared among groups, as were the number and type of postoperative visits. Results: A total of 98 patients met criteria; 70 were implanted pre-COVID-19 and 28 during COVID-19. A significant increase in the interval between CI candidacy evaluation and surgery was seen among patients with prelingual deafness during COVID-19 compared with pre-COVID-19 (µ = 47.3 weeks, 95% confidence interval [CI]: 34.8-59.9 vs µ = 20.5 weeks, 95% CI: 13.1-27.9; p < .001). Patients in the COVID-19 group attended fewer in-person rehabilitation visits in the 12 months after surgery (µ = 14.9 visits, 95% CI: 9.7-20.1 vs µ = 20.9, 95% CI: 18.1-23.7; p = .04). Average age at implantation in the COVID-19 group was 5.7 years (95% CI: 4.0-7.5) versus 3.7 years in the pre-COVID-19 group (95% CI: 2.9-4.6; p = .05). The time interval between hearing loss confirmation and CI surgery was on average 99.7 weeks for patients implanted during COVID-19 (95% CI: 48.8-150) versus 54.2 weeks for patients implanted pre-COVID (95% CI: 39.6-68.8), which was not a statistically significant difference (p = .1). Conclusion: During the COVID-19 pandemic patients with prelingual deafness experienced delays in care relative to patients implanted before the pandemic.
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Early detection and intervention for congenital hearing loss are critical for speech and language development. Newborns should receive hearing screening, diagnosis, and intervention by 1, 3, and 6 months, respectively. The COVID-19 pandemic has caused delays in each step of this process. Increased out-of-hospital births and shortages of essential health care services likely reduced the proportion of newborns completing screening. Additional factors have contributed to delayed diagnosis. We estimate that up to 50% of infants born with hearing loss in Maryland in 2021 may be delayed in diagnosis. Hearing loss interventions have been affected due to delayed initiation, reduced availability, and lack of in-person services. Delayed diagnosis and treatment of congenital hearing loss are likely to have significant effects on individual patients and public health, the full magnitude of which will not be known for years. Opportunities exist for providers to mitigate the negative effects of COVID-19 on pediatric hearing health care.
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COVID-19 , Criança , Audição , Testes Auditivos , Humanos , Lactente , Recém-Nascido , Triagem Neonatal , PandemiasRESUMO
OBJECTIVES: Paradoxical vocal fold motion (PVFM) is not well-characterized in infants. Sex- and race/ethnicity-based differences have been described in older children with PVFM. This study's objectives are to characterize demographic and clinical characteristics of infants diagnosed with PVFM and investigate sex- and race-specific differences in presentation. METHODS: We retrospectively reviewed infants ≤1 year of age diagnosed with PVFM at our institution from 2009 to 2019. Patient demographics, symptoms, and findings on flexible laryngoscopy are described. Sex- and race/ethnicity-based differences were assessed using Fisher's exact test analyses. RESULTS: We identified 22 infants who were diagnosed with PVFM. The average age (range) at diagnosis was 5.7 (0.25-12.0) months, and 45.5% were male. The majority (54.6%) of patients identified as non-Hispanic White. Common comorbidities included GERD (45.5%) and chronic rhinitis (13.6%). Stridor was the only presenting symptom in the majority of patients (95.4%). The most common episode triggers were crying (45.5%), feeding (27.3%), and gastric reflux (9.1%). On flexible laryngoscopy, PVFM was observed in 95.5% of patients. A third of patients (31.8%) were misdiagnosed as having reactive airway disease or laryngomalacia prior to evaluation by otolaryngology. No sex- and race/ethnicity-based differences in presentation were identified. CONCLUSION: We present the largest case series of PVFM in infants. We found sparse clinical signs/symptoms other than stridor and a high incidence of misdiagnosis, which supports the importance of objective flexible laryngoscopy for the evaluation of stridor in this age group. Previously reported sex- and race/ethnicity-based differences in presentation of PVFM were not observed in this cohort of infants.
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Discinesias , Refluxo Gastroesofágico , Disfunção da Prega Vocal , Criança , Discinesias/complicações , Feminino , Refluxo Gastroesofágico/complicações , Refluxo Gastroesofágico/diagnóstico , Refluxo Gastroesofágico/epidemiologia , Humanos , Lactente , Laringoscopia/efeitos adversos , Masculino , Sons Respiratórios/diagnóstico , Sons Respiratórios/etiologia , Estudos Retrospectivos , Disfunção da Prega Vocal/diagnóstico , Prega VocalRESUMO
Throughout its lifetime the heart is buffeted continuously by dynamic mechanical forces resulting from contraction of the heart muscle itself and fluctuations in haemodynamic load and pressure. These forces are in flux on a beat-by-beat basis, resulting from changes in posture, physical activity or emotional state, and over longer timescales due to altered physiology (e.g. pregnancy) or as a consequence of ageing or disease (e.g. hypertension). It has been known for over a century of the heart's ability to sense differences in haemodynamic load and adjust contractile force accordingly (Frank, Z. biology, 1895, 32, 370-447; Anrep, J. Physiol., 1912, 45 (5), 307-317; Patterson and Starling, J. Physiol., 1914, 48 (5), 357-79; Starling, The law of the heart (Linacre Lecture, given at Cambridge, 1915), 1918). These adaptive behaviours are important for cardiovascular homeostasis, but the mechanism(s) underpinning them are incompletely understood. Here we present evidence that the mechanically-activated ion channel, Piezo, is an important component of the Drosophila heart's ability to adapt to mechanical force. We find Piezo is a sarcoplasmic reticulum (SR)-resident channel and is part of a mechanism that regulates Ca2+ handling in cardiomyocytes in response to mechanical stress. Our data support a simple model in which Drosophila Piezo transduces mechanical force such as stretch into a Ca2+ signal, originating from the SR, that modulates cardiomyocyte contraction. We show that Piezo mutant hearts fail to buffer mechanical stress, have altered Ca2+ handling, become prone to arrhythmias and undergo pathological remodelling.
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Objectives: Upper lip tie (ULT) is a clinical condition with restrictive attachment of the superior labial frenulum (SLF), which may inhibit flanging of the lips. Objective outcome studies are lacking in part due to unreliable classification systems that rely solely upon a single attachment parameter of the SLF. This study's objectives are to describe a novel 3-point classification system for ULT and compare its inter-rater reliability to the Kotlow and Stanford systems. Methods: Five raters used the Kotlow and Stanford systems, as well as our novel 3-point scale to score images of the SLF from 20 newborns seen at our institution between September 1, 2017 and April 1, 2018. Newborn birth weight, gestational age, and demographic data were collected from the infant's medical record. Fleiss's kappa was used to calculate inter-rater reliability for all classification systems. Results: The parameters for our novel 3-point classification system for ULT were as follows: length from alveolar edge to frenulum gingival attachment, length of frenulum on stretch, and free-lip to total-lip length ratio. Our novel scale yielded the highest inter-rater reliability of 0.41, compared to 0.24 and 0.25 under the Kotlow and Stanford systems. Conclusion: While the Kotlow and Stanford systems are based upon a single anatomical parameter, our novel 3-point classification scale uses three oral parameters that encompass anatomical points of attachment as well as the maximal length of the ULT on stretch. Our classification scheme is the first to incorporate a functional parameter of the SLF, and thereby more fully characterizes ULT.Level of Evidence: Level 4.
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BACKGROUND: Pediatric salivary gland fine-needle aspiration (FNA) is uncommon with a higher frequency of inflammatory lesions and a small proportion of malignancies. This international, multi-institutional cohort evaluated the application of the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) and the risk of malignancy (ROM) for each diagnostic category. METHODS: Pediatric (0- to 21-year-old) salivary gland FNA specimens from 22 international institutions of 7 countries, including the United States, England, Italy, Greece, Finland, Brazil, and France, were retrospectively assigned to an MSRSGC diagnostic category as follows: nondiagnostic, nonneoplastic, atypia of undetermined significance (AUS), benign neoplasm, salivary gland neoplasm of uncertain malignant potential (SUMP), suspicious for malignancy (SM), or malignant. Cytology-histology correlation was performed where available, and the ROM was calculated for each MSRSGC diagnostic category. RESULTS: The cohort of 477 aspirates was reclassified according to the MSRSGC as follows: nondiagnostic, 10.3%; nonneoplastic, 34.6%; AUS, 5.2%; benign neoplasm, 27.5%; SUMP, 7.5%; SM, 2.5%; and malignant, 12.4%. Histopathologic follow-up was available for 237 cases (49.7%). The ROMs were as follows: nondiagnostic, 5.9%; nonneoplastic, 9.1%; AUS, 35.7%; benign neoplasm, 3.3%; SUMP, 31.8%; SM, 100%; and malignant, 100%. Mucoepidermoid carcinoma was the most common malignancy (18 of 237; 7.6%), and it was followed by acinic cell carcinoma (16 of 237; 6.8%). Pleomorphic adenoma was the most common benign neoplasm (95 of 237; 40.1%). CONCLUSIONS: The MSRSGC can be reliably applied to pediatric salivary gland FNA. The ROM of each MSRSGC category in pediatric salivary gland FNA is relatively similar to the ROM of each category in adult salivary gland FNA, although the reported rates for the different MSRSGC categories are variable across institutions.