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1.
Ear Hear ; 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38898551

RESUMO

OBJECTIVES: To determine our audiology clinics status in meeting the Joint Committee on Infant Hearing recommended 1-3-6 benchmarks for identification and intervention for congenital sensorineural hearing loss and identify those factors contributing to delay in identification and intervention. DESIGN: This is a retrospective case series. Children with sensorineural hearing loss who underwent auditory brainstem response (ABR) testing, hearing aid evaluation, or cochlear implant mapping at our tertiary pediatric medical center between January 2018 and December 2021 were included. Simple and multiple linear regression analyses were used to identify social, demographic, and health factors associated with primary outcomes, defined as age at hearing loss identification, age at intervention (here defined as amplification start), and interval between identification and intervention. RESULTS: Of 132 patients included, mean age was 2.4 years, 48% were male, and 51% were Hispanic. There was significant association between each Hispanic ethnicity (p = 0.005, p = 0.04, respectively), insurance type (p = 0.02, p = 0.001, respectively), and later age at identification and intervention. In multivariable analyses, Hispanic ethnicity was significantly associated with both delays in identification and intervention (p = 0.03 and p = 0.03, respectively), and public insurance was associated with delays in intervention (p = 0.01). In addition, the total number of ABRs was significantly associated with both older age of identification and intervention (p < 0.001, p < 0.001, respectively). Mediator analysis demonstrated that the effect of ethnicity on age at identification is mediated by the total number of ABRs performed. CONCLUSIONS: A significant association between total number of ABRs and age at identification and intervention for children with hearing loss exists. Hispanic ethnicity was associated with delays in meeting milestones, further mediated by the number of ABRs, providing a potential avenue for intervention in addressing this disparity.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38613189

RESUMO

OBJECTIVE: To identify geographic, sociodemographic, and clinical factors associated with parental self-efficacy in a diverse cohort of deaf or hard-of-hearing (DHH) children. STUDY DESIGN: Cross-sectional study. SETTING: Tertiary children's hospital. METHODS: Four hundred forty parents of DHH children aged 0 to 17 completed the 25-item Scale of Parental Involvement and Self-Efficacy (SPISE) survey from 2014 to 2022. Residential addresses were geocoded and assigned Area Deprivation Index and Social Vulnerability Index rankings, and univariable and multivariable analyses were conducted using sociodemographic and clinical variables, including sex, race/ethnicity, insurance type, survey language, age at the survey, comorbidities, newborn hearing screening results, and hearing loss laterality and severity. RESULTS: Compared to English and Spanish-speaking parents, Chinese-speaking parents were associated with overall lower parental self-efficacy and involvement (regression coefficient = -0.518, [-0.929, -0.106]), Cohen's d = 0.606) and lower scores on items related to their ability to affect multiple aspects of their child's development and expression of thoughts as well as competency in checking and putting on their child's sensory device. Across univariable and multivariable analyses, besides Chinese language, all other sociodemographic, clinical, and geographic variables were not associated with SPISE score. CONCLUSION: To achieve the best patient outcomes, care teams can use the SPISE to evaluate parental self-efficacy and provide targeted support to parents at risk for having lower knowledge and confidence scores about critical skills necessary to facilitate their child's auditory access and language development. Notably, this study found similar reports of parental efficacy across various sociodemographic, clinical, and geographic variables but significantly lower SPISE scores in Chinese-speaking families.

3.
Otolaryngol Head Neck Surg ; 170(3): 896-904, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37925623

RESUMO

OBJECTIVE: To identify sociodemographic factors associated with pediatric late-identified hearing loss (LIHL) and classify novel subgroups within the LIHL population. STUDY DESIGN: Retrospective cohort. SETTING: Tertiary children's hospital. METHODS: Our cohort included children with permanent hearing loss (HL) between 2012 and 2020 (n = 1087). Patients with early-identified HL were compared to patients with LIHL (>6 months of age at diagnosis), and 3 subgroups: (1) late-identified congenital HL: failed NHS but had a diagnostic audiogram >6 months old; (2) late-onset HL: passed NHS and identified with HL after 6 months old; (3) late-identified, unknown-onset: unknown NHS results, identified after 6 months old. Geospatial analysis was performed using ArcGIS Pro. RESULTS: Compared with early-identified children, children with LIHL were more likely to have more comorbidities (odds ratio [OR] = 1.12, [1.01, 1.23]), be an under-represented minority (URM) (OR = 1.92, [1.27, 2.93]) and have a higher social vulnerability index (SVI) (adjusted odds ratio [AOR] = 2.1, [1.14, 3.87]). However, subgroups in the LIHL cohort had variable associations. Children with late-identified unknown onset hearing loss were uniquely associated with a primarily non-English speaking household (AOR = 1.84, [1.04, 3.25]), whereas children with late-onset hearing loss were less likely to have public insurance (AOR = 0.47, [0.27, 0.81]. There were no significant associations for children with late-identified congenital hearing loss. Neighborhood disadvantage, as measured by SVI, had an increased association with late-identified unknown onset HL (AOR = 4.08, [2.01, 8.28]) and a decreased association with late-onset HL (AOR = 0.40, [0.22, 0.72]). CONCLUSION: Sociodemographic factors serve as proxies for health care access, and these factors vary across LIHL pathways. Understanding the risk factors associated with each LIHL subgroup may help address disparities in pediatric HL identification.


Assuntos
Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Criança , Humanos , Lactente , Estudos Retrospectivos , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Surdez/complicações , Perda Auditiva Neurossensorial/diagnóstico , Fatores de Risco
4.
Otolaryngol Head Neck Surg ; 168(5): 1185-1196, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36939528

RESUMO

OBJECTIVE: We examined how sociodemographic and audiologic factors affect receptive and expressive language outcomes in children with cochlear implantation. STUDY DESIGN: Retrospective cohort study. SETTING: A hearing loss (HL) clinic at a tertiary center. METHODS: Sociodemographic variables, HL characteristics, age at implantation, and receptive language scores (Preschool Language Scale and the Clinical Evaluation of Language Fundamentals) were collected from patients with congenital HL who received their first implant by 4 years old after January 1, 2007. t Tests, linear regression, Mann-Whitney, Cohen's d, and mediation analysis were used for descriptive statistics and hypothesis testing. RESULTS: Among 79 patients, 42 (53%) were females, 44 (56%) under-represented minorities, and 56 (71%) had public insurance. At least 1 year after implantation, the median receptive language score was 69 (range 50-117). Females (p = .005), having private insurance (p = .00001), having a Cochlear Implant Profile score below 4 (p = .0001), and receiving their implant at or before 12 months of age (p = .0009) were significantly associated with improved receptive language outcomes. Insurance type had a significant effect on receptive language outcomes, independent from age at first implantation (total effect: coef = -13.00, p = .02; direct effect: coef = -12.26, p = .03; indirect effect: coef = -0.75, p = .47). Sociodemographic variables had large effect sizes, with the Cochlear Implant Profile score having the largest effect size (d = 1.3). CONCLUSION: Sociodemographic factors have a large impact on receptive language outcomes. Public insurance is associated with worse receptive language, not mediated by later age at implantation, suggesting that other factors primarily impact language outcomes in publicly insured children with cochlear implants.


Assuntos
Implante Coclear , Implantes Cocleares , Surdez , Percepção da Fala , Pré-Escolar , Feminino , Criança , Humanos , Masculino , Estudos Retrospectivos , Desenvolvimento da Linguagem , Idioma , Surdez/cirurgia
5.
Otolaryngol Head Neck Surg ; 169(3): 710-718, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36924195

RESUMO

OBJECTIVE: Identify the age at diagnosis and intervention of immigrant and/or non-English-speaking children with hearing loss (HL) and risk factors associated with delays. Identify barriers for non-English-speaking caregivers of deaf/hard-of-hearing children. STUDY DESIGN: Sequential mixed methods. SETTING: Tertiary care center in an urban city. METHODS: The analysis includes descriptive statistics, and 1-way and 2-way analysis of variance of the retrospective chart review. The quantitative study demonstrated foreign-born experienced disparities, so we conducted semistructured interviews on a subset of non-English-speaking families in the cohort that was then thematically analyzed using a human-centered design strategy. RESULTS: We divided 532 children into 3 groups: US-born with English as the preferred language (N = 294), US-born and non-English language preferred (N = 173), and foreign-born (N = 67). The laterality of HL and pure-tone averages were similar among the groups (p = .972 and .071, respectively). Age at diagnosis and time to the intervention were significantly different (39.7, 31.5, 75.8 months, p < .001 and 24.6, 29.2, 48.9 months, p = .001, respectively). Ages at diagnosis and intervention were associated with birthplace (p = .005, p = .0005, respectively) but not preferred language (p = .667, p = .343, respectively). Included in the qualitative interviews were Mandarin- (n = 5), Arabic- (n = 4), and Spanish-speaking families (n = 3). Insights revealed participants' quest for anticipatory guidance and social support, the consequences of cultural stigma, and the complexity of caring for a child with HL in an immigrant family. CONCLUSION: Foreign-born children with HL have significant delays in diagnosis and intervention compared to US-born children. For non-English-speaking parents, the diagnosis of HL presents challenges beyond that of the immigrant experience.


Assuntos
Surdez , Emigrantes e Imigrantes , Perda Auditiva , Humanos , Criança , Estudos Retrospectivos , Perda Auditiva/diagnóstico , Perda Auditiva/terapia , Idioma
6.
Int J Pediatr Otorhinolaryngol ; 165: 111430, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36603347

RESUMO

OBJECTIVES: Cochlear implantation (CI) in children with sensorineural hearing loss (SNHL) before 12 months of age (mo) improves language outcomes. MRI is important to assess CI candidacy. Anesthesia before 3 years old may increase risk of neurocognitive delay. Natural sleep MRI (NS-MRI) is an emerging technique to avoid anesthesia in infants, but relies on successful sleep for adequate imaging. Our multidisciplinary team hypothesized the following predictors of successful NS-MRI for CI evaluation: age, distance travelled, comorbidities, primary language, insurance type, HL characteristics, time and duration of MRI. METHODS: We performed retrospective review of children 0-12mo who attempted NS-MRI. The NS-MRI was successful if imaging was sufficient for definitive clinical management per the managing otolaryngologist. RESULTS: Among 26 patients (29 scans), the median age was 3.2mo (range: 1.2-6.8mo), distance travelled was 16.3 miles (range: 0.9 to 365 miles), 12 (46%) children had medical comorbidities. 8 (31%) had public insurance. 10 (38%) had bilateral HL. 52% (15/29) of scans were successful. Patients with comorbidities had significantly lower odds of successful NS-MRI (OR 0.09; 95% CI 0.01-0.54). Success was not associated with age, distance travelled, insurance type, primary language, HL characteristics, time or duration of MRI on univariable analysis. All 11 children who failed NS-MRI underwent hearing-aid fitting and/or imaging with sedation and CI as clinically indicated before 12mo. CONCLUSION: NS-MRI was successful in 52% of infants, regardless of age, demographics, HL or MRI characteristics. Unsuccessful NS-MRI did not result in delayed intervention. NS-MRI is an effective consideration for a broad range of infants with SNHL.


Assuntos
Implante Coclear , Implantes Cocleares , Auxiliares de Audição , Perda Auditiva Neurossensorial , Criança , Humanos , Lactente , Pré-Escolar , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/etiologia , Implante Coclear/métodos , Auxiliares de Audição/efeitos adversos , Idioma , Imageamento por Ressonância Magnética/métodos , Implantes Cocleares/efeitos adversos
7.
Int J Pediatr Otorhinolaryngol ; 165: 111446, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36657329

RESUMO

OBJECTIVE: Congenital cytomegalovirus (cCMV) infection in infants leads to an increased risk of developing sensorineural hearing loss (SNHL), even if they are asymptomatic at birth. There are currently no national guidelines for universal screening for CMV, placing children with cCMV at a high risk for unidentified and untreated HL, which in turn places them at greater risk for lasting impacts on quality of life and cognitive and behavioral abilities. We sought to describe the sociodemographic and hearing loss characteristics of children with HL due to cCMV. DESIGN: We performed a retrospective cohort study of patients 0-18 years of age who completed CMV dried blood spot (DBS) testing in our HL clinic before April 1, 2022. Home ZIP codes were entered into the Healthy Places Index (HPI) database to quantify the health of the community in which the patient lived. Severity of HL was determined by pure tone averages (PTA) of hearing thresholds for frequencies of 500Hz, 1000Hz, 2000Hz, and 4000Hz. Progression was defined as those who referred on newborn hearing screen and then had a >15 dB increase in PTA, and those who passed newborn hearing screen and were found to have HL later in life. Logistic regression was used to compare variables. RESULTS: Of 365 children who received a CMV DBS test, 15 (4%) had a positive test, indicating the presence of cCMV infection, and 350 (96%) had a negative test. 192 (53%) were male, 212 (58%) were URM, 202 (55%) had public insurance, the median number of ICD-10 codes was 2 (range 0-53), and the median HPI percentile score was 71.2 (range: 3.4-99.9). Although CMV DBS testing was ordered for those with suspicion of SNHL, ultimately diagnostic testing found 333 (91%) with SNHL, 4 (1%) with CHL, 13 (4%) with mixed HL, 9 (3%) with auditory neuropathy spectrum disorder, and 5 (4%) with unspecified HL, and 11 (3%) without HL. Of the 353 patients with HL, 126 (36%) had unilateral, 156 (44%) had symmetric bilateral, and 71 (20%) had asymmetric bilateral HL; 183 (52%) had progressive and 138 (39%) had stable HL. In children with SNHL (n = 333), we tested the association of socio-demographic and audiologic factors with cCMV. Those with asymmetric bilateral SNHL (OR 5.19, 95% CI 1.81-14.90) or profound SNHL (>90 dB) in either ear (OR 13.91, 95% CI 3.82-50.67) had higher odds of having cCMV. Those with symmetric bilateral SNHL had lower odds of a positive CMV DBS test result (OR 0.17, 95% CI 0.02-0.76). All sociodemographic variables, medical comorbidities, and other audiologic variables were not associated with CMV DBS test results. CONCLUSION: Congenital CMV infection is associated with asymmetric bilateral and profound SNHL. More research is warranted to determine best practices for universal screening for cCMV to identify these children.


Assuntos
Infecções por Citomegalovirus , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Lactente , Recém-Nascido , Humanos , Criança , Masculino , Feminino , Estudos Retrospectivos , Teste em Amostras de Sangue Seco , Qualidade de Vida , Perda Auditiva/diagnóstico , Perda Auditiva/epidemiologia , Perda Auditiva/etiologia , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/epidemiologia , Surdez/complicações , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Bilateral/complicações
8.
Laryngoscope ; 133(8): 1982-1986, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36165585

RESUMO

OBJECTIVE: Clinical guidelines recommend genetic testing when evaluating congenital and late-onset sensorineural hearing loss (SNHL). Genetic diagnoses can provide parents additional information regarding anticipated hearing loss progression, comorbid conditions, and family planning. Additionally, obtaining a genetic diagnosis may increase parental acceptance of hearing loss and subsequent pursuit of intervention. This study evaluates the association between genetic diagnoses and hearing loss intervention. METHODS: We included children ages 0-18 years with SNHL who were hearing aid or cochlear implant candidates but non-users and underwent hearing-loss gene panel testing prior to initiating intervention. Univariate analyses were performed to identify predictors of hearing aid fitting or cochlear implantation. Multivariate logistic regression evaluated the impact of demographic and clinical factors on subsequent intervention. RESULTS: Of the 385 children with SNHL who underwent hearing loss gene panel testing, 111 were included. Median age was 7.5 years. 56% were underrepresented minorities, 71% were non-White, and 71% were publicly insured. Those found to have a genetic diagnosis were 4.6 times as likely to subsequently undergo intervention (p = 0.035). Additionally, bilateral hearing loss and earlier age of genetic testing were associated with increased likelihood of intervention. CONCLUSION: Up to half of children with SNHL are suspected to have an underlying genetic etiology. Children diagnosed with a genetic diagnosis are significantly more likely to subsequently utilize hearing aids or cochlear implantation. This provides additional support for clinical guidelines recommending genetic testing not only due to the impact of prognostication but also on treatment decision-making. LEVEL OF EVIDENCE: 4 Laryngoscope, 133:1982-1986, 2023.


Assuntos
Implante Coclear , Surdez , Perda Auditiva Neurossensorial , Perda Auditiva , Criança , Humanos , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/terapia , Audição , Implante Coclear/efeitos adversos , Surdez/cirurgia , Perda Auditiva/complicações , Testes Genéticos
9.
OTO Open ; 6(4): 2473974X221132509, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36544570

RESUMO

Objectives: First, to determine whether using a single-question subjective hearing screen vs gold standard audiometric evaluation is effective for hearing loss screening in refugees and asylees. Second, to understand the clinical pathways for hearing loss diagnosis and treatment. Study Design: This is a case series with chart review from January 2014 to December 2017. Setting: A large urban safety net primary care clinic in San Francisco, California. Methods: Patients were included who had a medical record and completed single-question subjective hearing screening and audiometric evaluation during refugee health examinations. An overall 349 patients met all inclusion criteria. Results: Out of 349 patients, 48% were male; the median age was 29.3 years (SD, 15.1). The majority came from Central or South America (n = 148, 42%) and China (n = 79, 23%). Among all patients, 10 (3%) failed the subjective hearing screen, and 18 (5%) failed audiometric evaluation. Of those who failed the subjective hearing screen, 4 (40%) passed audiometric evaluation. Of those who failed the audiometric evaluation, 12 (66%) passed subjective screening, and only 5 (28%) received a diagnostic audiogram, with 4 diagnosed with hearing loss and 1 receiving hearing aids. The sensitivity of the subjective screening question was 33% and the specificity 99% as compared with audiometric evaluation. Conclusion: Audiometric evaluation is relatively inexpensive and easily administered, while a single subjective question is a poor screening tool. Hearing loss is undertreated in this population. Ensuring appropriate hearing loss screening, diagnosis, and treatment in this population is paramount to improving quality of life.

10.
BMC Health Serv Res ; 22(1): 1388, 2022 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-36419056

RESUMO

PURPOSE: To use a mixed methods approach to investigate the patient waiting experience for a medically underserved population at an outpatient surgical clinic. METHODS: We used lean methodology to perform 96 time-tracked observations of the patient journey in clinic, documenting the duration of activities from arrival to departure. We also used human-centered design (HCD) to perform and analyze 43 semi-structured interviews to understand patients' unmet needs. RESULTS: Patients spent an average of 68.5% of their total clinic visit waiting to be seen. While the average visit was 95.8 minutes, over a quarter of visits (27%) were over 2 hours. Patients waited an average of 24.4 minutes in the waiting room and 41.2 minutes in the exam room; and only spent 19.7% of their visit with an attending provider and 11.8% with a medical assistant. Interviews revealed that patients arrive to their visit already frustrated due to difficulties related to scheduling and attending their appointment. This is exacerbated during the visit due to long wait times, perceived information opacity, and an uncomfortable waiting room, resulting in frustration and anxiety. CONCLUSIONS: While time tracking demonstrated that patients spend a majority of their visit waiting to be seen, HCD revealed that patient frustrations span the waiting experience from accessing the appointment to visit completion. These combined findings are crucial for intervention design and implementation for medically underserved populations to improve the quality and experience with healthcare and also address system inefficiencies such as long wait times.


Assuntos
Instituições de Assistência Ambulatorial , Área Carente de Assistência Médica , Humanos , Assistência Ambulatorial
11.
Artigo em Inglês | MEDLINE | ID: mdl-36360748

RESUMO

OBJECTIVE: To use architectural mapping to understand how patients and families utilize the waiting space at an outpatient surgery clinic in a safety-net hospital. BACKGROUND: The waiting period is an important component of patient experience and satisfaction. Studies have found that patients value privacy, information transparency and comfort. However, approaches common in the architecture field have rarely been used to investigate interactions between patients and the built environment in a safety-net healthcare setting. METHODS: This was a prospective observational study in a general surgery outpatient clinic at a safety-net hospital and level 1 trauma center. We used a web-based application generated from the design and architecture industry, to quantitatively track waiting space utilization over 2 months. RESULTS: A total of 728 observations were recorded across 5 variables: time, location, chair selection, person/object, and activity. There were 536 (74%) observations involving people and 179 (25%) involving personal items. People most frequently occupied chairs facing the door (43%, n = 211), and least frequently occupied seats in the hallway (5%, n = 23), regardless of the time of their appointment (p-value = 0.92). Most common activities included interacting with personal phone, gazing into space, and talking face to face. Thirteen percent of people brought mobility devices, and 64% of objects were placed on an adjacent chair, indicating the desire for increased personal space. CONCLUSION: Architectural behavioral mapping is an effective information gathering tool to help design waiting space improvement in the safety-net healthcare setting.


Assuntos
Provedores de Redes de Segurança , Salas de Espera , Humanos , Instituições de Assistência Ambulatorial , Satisfação do Paciente , Agendamento de Consultas
12.
JAMA Netw Open ; 5(9): e2233441, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36166228

RESUMO

Importance: A genetic diagnosis can help elucidate the prognosis of hearing loss, thus significantly affecting management. Previous studies on diagnostic yield of hearing loss genetic tests have been based on largely homogenous study populations. Objectives: To examine the diagnostic yield of genetic testing in a diverse population of children, accounting for sociodemographic and patient characteristics, and assess whether these diagnoses are associated with subsequent changes in clinical management. Design, Setting, and Participants: This retrospective cohort study included 2075 patients seen at the Children's Communications Clinic, of whom 517 completed hearing loss gene panel testing between January 1, 2015, and November 1, 2021, at the University of California, San Francisco Benioff Children's Hospital system. From those 517 patients, 426 children with at least 2 audiograms were identified and analyzed. Data were gathered from November 2021 to January 2022 and analyzed from January to February 2022. Main Outcomes and Measures: The measures of interest were sociodemographic characteristics (age at testing, gender, race and ethnicity, primary language, and insurance type), hearing loss characteristics, and medical variables. The outcome was genetic testing results. Variables were compared with univariate and multivariable logistic regression. Results: Of the 2075 patients seen at the Children's Communications Clinic, 517 (median [range] age, 8 [0-31] years; 264 [51.1%] male; 351 [67.9%] from an underrepresented minority [URM] group) underwent a hearing loss panel genetic test between January 1, 2015, and November 1, 2021. Among those 517 patients, 426 children (median [range] age, 8 [0-18] years; 221 [51.9%] male; 304 [71.4%] from an URM group) with 2 or more audiograms were included in a subsequent analysis. On multivariable logistic regression, age at testing (odds ratio [OR], 0.87; 95% CI, 0.78-0.97), URM group status (OR, 0.29; 95% CI, 0.13-0.66), comorbidities (OR, 0.27; 95% CI, 0.14-0.53), late-identified hearing loss (passed newborn hearing screen; OR, 0.27; 95% CI, 0.08-0.86), and unilateral hearing loss (OR, 0.04; 95% CI, 0.005-0.33) were the only factors associated with genetic diagnosis. No association was found between genetic diagnosis yield and other sociodemographic variables or hearing loss characteristics. Patients in URM and non-URM groups had statistically similar clinical features. A total of 32 of 109 children (29.4%) who received a genetic diagnosis received diagnoses that significantly affected prognosis because of identification of syndromic or progressive sensorineural hearing loss or auditory neuropathy spectrum disorder relating to otoferlin. Conclusions and Relevance: This cohort study's findings suggest that genetic testing may be broadly useful in improving clinical management of children with hearing loss. More research is warranted to discover and characterize diagnostic genes for those who have been historically underrepresented in research and medicine.


Assuntos
Surdez , Perda Auditiva Central , Perda Auditiva Neurossensorial , Perda Auditiva , Adolescente , Adulto , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Adulto Jovem
13.
Laryngoscope Investig Otolaryngol ; 7(3): 863-869, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35734058

RESUMO

Objectives: To describe the prevalence and significance of first branchial cleft anomalies in children with congenital aural atresia. Methods: Retrospective cohort study and case series. Patients were included if they had ICD-10 code Q16.0, Q16.1, Q16.9, Q17.2, or Q17.9 in their medical record and were seen at UCSF Benioff Children's Hospital from 2012 to 2020 for aural atresia. Children were categorized as having aural atresia and first branchial cleft anomalies if the presence of a first branchial cleft anomaly was noted in otolaryngology provider notes; otherwise, they were categorized as aural atresia alone. Patients with aural atresia and first branchial cleft anomalies were included in the case series. Results: Among 125 children with congenital aural atresia, 5 (4%) were identified with first branchial cleft anomalies. In all cases, an epithelialized tract was noted to originate from the inferior aspect of the middle ear cleft, exiting the temporal bone in an inferomedial position adjacent to the stylomastoid foramen, with a cutaneous exit point inferior to the expected location of the native ear canal. There was no association with sex, microtia grade, or laterality of atresia; however, children with aural atresia and first branchial cleft anomalies were significantly more likely to have syndromes such as Goldenhar and Treacher Collins (p = .04) than those with aural atresia alone.3/5 (60%) children with aural atresia and first branchial cleft anomalies presented with cholesteatoma compared with 1/120 (0.8%) children with aural atresia alone, a significant difference (p < .001). All four children over the age of two have undergone surgical management. In two of these, excision of the branchial cleft anomaly could be combined with atresiaplasty, with normal hearing results in both cases. Conclusions: Aural atresia can be associated with comorbid anomalies of the head and neck. First branchial cleft anomalies can be suspected based on characteristic clinical appearance and confirmed with computed tomography showing a typical course through the temporal bone. When present in the context of congenital aural atresia, first branchial cleft anomalies are associated with a significantly increased risk for cholesteatoma, often necessitating surgical management with favorable hearing outcomes. Level of evidence: 4.

14.
Can J Surg ; 62(1): 66-69, 2019 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-30693748

RESUMO

The Vascular Quality Initiative (VQI) is a national cooperative quality-improvement initiative designed to evaluate processes of care and outcomes in vascular surgery. The purpose of this report is to show the utility of such a database to provide insight into the standard of care provided, to highlight areas of local quality improvement, to benchmark our data against local, regional and national trends, and to ultimately improve safety in Canadian patients undergoing vascular surgery. We present the history of the database, its spread in the Canadian health care system and examples of quality improvements achieved from analyses of data recorded and retrieved from the VQI. Using the VQI, our institution was able to decrease the length of stay after endovascular aneurysm repair, decrease the contrast volume in endovascular aneurysm repair, save on costs, and provide medium-term outcome data on peripheral vascular interventions and smoking cessation strategies. The VQI is a powerful tool to improve patient safety and quality in vascular surgery. Its ability to create local regional improvement groups fosters a quality-focused culture and is important for Canadian patients.


La Vascular Quality Initiative (VQI) est une initiative de collaboration nationale axée sur l'amélioration de la qualité, conçue pour évaluer les processus de soins et les résultats en chirurgie vasculaire. Le but du présent rapport est de montrer l'utilité d'une telle base de données pour situer les normes de soins actuelles, mettre en lumière les secteurs d'amélioration de la qualité locale, évaluer nos données à la lumière des tendances locales, régionales et nationales et ultimement, améliorer la sécurité des patients canadiens de chirurgie vasculaire. Nous retraçons l'historique de cette base de données, son adoption par le système de santé canadien et donnons des exemples d'améliorations de la qualité obtenues grâce à l'analyse des données enregistrées et récupérées à partir de la base VQI. Cette base de données nous a permis d'abréger les séjours hospitaliers après la réparation endovasculaire des anévrismes, d'épargner sur les coûts et de compiler les résultats à moyen terme des interventions vasculaires périphériques et des stratégies d'abandon du tabagisme. La VQI est un outil puissant pour améliorer la sécurité des patients et la qualité de la chirurgie vasculaire. Sa capacité de créer des groupes loco-régionaux d'amélioration de la qualité favorise une culture axée sur la qualité et est importante pour les patients canadiens.


Assuntos
Avaliação de Resultados em Cuidados de Saúde , Segurança do Paciente , Melhoria de Qualidade/normas , Procedimentos Cirúrgicos Vasculares/normas , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/normas , Canadá , Bases de Dados Factuais , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/normas , Feminino , Humanos , Incidência , Masculino , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/fisiopatologia , Medição de Risco , Resultado do Tratamento , Procedimentos Cirúrgicos Vasculares/efeitos adversos
15.
J Vasc Surg ; 67(5): 1448-1454, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29153533

RESUMO

OBJECTIVE: The subintimal arterial flossing with antegrade-retrograde intervention technique has been used to overcome antegrade recanalization failures for peripheral lower limb arterial occlusive disease. There are few outcomes published for this technique and we sought to evaluate outcomes at our institution over a 7-year period. METHODS: A retrospective review was performed of all subintimal arterial flossing with antegrade-retrograde intervention procedures of infrainguinal occlusive disease from 2009 to 2016. Retrograde and antegrade accesses were combined when occlusions could not be crossed from the antegrade direction. Baseline patient characteristics, procedures, procedure time, fluoroscopy time, contrast used, and radiation dose were collected. Posterior tibial waveforms, ankle-brachial index, limb salvage, vessel patency, and the presence of symptoms were assessed at follow-up. RESULTS: Treatment was performed in 52 limbs in 52 patients (35 men and 17 women; mean age, 77.62 ± 11.61 years) with critical limb ischemia and no appropriate venous conduit for surgical bypass. Among the cohort, 63.5% were diabetics, 98% had hypertension, 53.8% had a prior myocardial infarction, and 36.5% end-stage renal disease. The average Rutherford Category before the intervention was 5.08 ± 1.01. Retrograde pedal access was most commonly obtained in the anterior tibial artery/dorsalis pedis (55.7%), followed by the posterior tibial artery (40.3%). The technical success rate was 63.5% (33/52); adjunctive stenting was needed in 19 (36.5%) to optimize results. Preprocedural ankle-brachial index score was 0.54 ± 0.25, which improved after the procedure to an ankle-brachial index score of 0.77 ± 0.25. The primary patency rates at 3 and 6 months were 65% and 60%, respectively. The limb salvage rate at a mean follow-up of 5.4 months was 78.8%. There were 5 complications; 4 were hematomas managed conservatively and 1 was a major retroperitoneal bleed resulting in patient death. CONCLUSIONS: Retrograde pedal access is a viable revascularization technique for achieving limb salvage in patients with critical limb ischemia with acceptable patency for limb-threatening ischemia. This technique expands revascularization options after failed conventional endovascular antegrade approaches.


Assuntos
Procedimentos Endovasculares/métodos , Isquemia/terapia , Doença Arterial Periférica/terapia , Idoso , Idoso de 80 Anos ou mais , Amputação Cirúrgica , Angiografia , Índice Tornozelo-Braço , Comorbidade , Estado Terminal , Intervalo Livre de Doença , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Feminino , Humanos , Isquemia/diagnóstico por imagem , Isquemia/fisiopatologia , Salvamento de Membro , Masculino , Ontário , Doença Arterial Periférica/diagnóstico por imagem , Doença Arterial Periférica/fisiopatologia , Estudos Retrospectivos , Fatores de Risco , Stents , Fatores de Tempo , Resultado do Tratamento , Grau de Desobstrução Vascular
16.
J Emerg Med ; 53(6): 904-906, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28988739

RESUMO

BACKGROUND: African tick-bite fever is an increasingly common cause for fever in the returning traveller. It needs to be considered in the febrile returning traveller with a characteristic rash: a black eschar. CASE REPORT: We describe a 51-year-old man returning from South Africa who presented to our emergency department with fever, headache, myalgia, and chills. On careful history and skin examination, a black eschar was found on the patient's left lateral shoulder, pointing toward a diagnosis of African tick-bite fever. The patient was treated with doxycycline and rapidly improved. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: In the emergency department, the diagnosis of African tick-bite fever is often overlooked in the pursuit of ruling out other travel-related illnesses, such as malaria. A thorough history, a complete physical examination, and a high level of suspicion are essential to the timely diagnosis and treatment of African tick-bite fever in the returning traveller.


Assuntos
Infecções por Rickettsia/diagnóstico , Rickettsiose do Grupo da Febre Maculosa/complicações , Canadá/etnologia , Diagnóstico Diferencial , Exantema/etnologia , Exantema/etiologia , Fadiga/etnologia , Fadiga/etiologia , Febre/etnologia , Febre/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Rickettsia/patogenicidade , África do Sul , Rickettsiose do Grupo da Febre Maculosa/etnologia , Viagem
17.
BMJ Case Rep ; 20172017 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-28611134

RESUMO

Aortoenteric fistulas (AEF) are a rare but life-threatening cause of gastrointestinal (GI) bleeding. We present the case of a primary AEF caused by ingestion of a toothpick by a 47-year-old male. This is the 10th known case in the literature in which a foreign body was found to be the cause of a communication between the aorta and the GI tract. Most foreign objects have been sewing needles; this is the first known case of a toothpick penetration. The patient presented to our institution with polymicrobial sepsis and bilateral pulmonary septic emboli. The patient was successfully treated but required multiple interventions and a prolonged intensive care unit admission.


Assuntos
Aorta Abdominal , Duodeno , Migração de Corpo Estranho/diagnóstico , Fístula Intestinal/diagnóstico , Fístula Vascular/diagnóstico , Diagnóstico Diferencial , Migração de Corpo Estranho/complicações , Migração de Corpo Estranho/diagnóstico por imagem , Migração de Corpo Estranho/cirurgia , Hemorragia Gastrointestinal/etiologia , Humanos , Fístula Intestinal/complicações , Fístula Intestinal/diagnóstico por imagem , Fístula Intestinal/cirurgia , Masculino , Pessoa de Meia-Idade , Sepse/etiologia , Tomografia Computadorizada por Raios X , Fístula Vascular/complicações , Fístula Vascular/diagnóstico por imagem , Fístula Vascular/cirurgia
18.
J Surg Educ ; 74(5): 889-897, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28342767

RESUMO

OBJECTIVE: To describe the development of cognitive task analysis (CTA)-based multimedia educational videos for surgical trainees in plastic surgery. DESIGN: A needs assessment survey was used to identify 5 plastic surgery skills on which to focus the educational videos. Three plastic surgeons were video-recorded performing each skill while describing the procedure, and were interviewed with probing questions. Three medical student reviewers coded transcripts and categorized each step into "action," "decision," or "assessment," and created a cognitive demands table (CDT) for each skill. The CDTs were combined into 1 table that was reviewed by the surgeons performing each skill to ensure accuracy. The final CDTs were compared against each surgeon's original transcripts. The total number of steps identified, percentage of steps shared, and the average percentage of steps omitted were calculated. SETTING: Sunnybrook Health Sciences Centre, Toronto, Ontario, Canada, an urban tertiary care teaching center. PARTICIPANTS: Canadian junior plastic surgery residents (n = 78) were sent a needs assessment survey. Four plastic surgeons and 1 orthopedic surgeon performed the skills. RESULTS: Twenty-eight residents responded to the survey (36%). Subcuticular suturing, horizontal and vertical mattress suturing, hand splinting, digital nerve block, and excisional biopsy had the most number of residents (>80%) rank the skills as being skills that students should be able to perform before entering residency. The number of steps identified through CTA ranged from 12 to 29. Percentage of steps shared by all 3 surgeons for each skill ranged from 30% to 48%, while the average percentage of steps that were omitted by each surgeon ranged from 27% to 40%. CONCLUSIONS: Instructional videos for basic surgical skills may be generated using CTA to help experts provide comprehensive descriptions of a procedure. A CTA-based educational tool may give trainees access to a broader, objective body of knowledge, allowing them to learn decision-making processes before entering the operating room.


Assuntos
Competência Clínica , Cognição/fisiologia , Cirurgia Plástica/educação , Gravação de Videoteipe , Centros Médicos Acadêmicos , Adulto , Tomada de Decisão Clínica , Currículo , Educação a Distância/métodos , Educação de Graduação em Medicina/métodos , Feminino , Humanos , Masculino , Ontário , Estudantes de Medicina/estatística & dados numéricos , Inquéritos e Questionários , Análise e Desempenho de Tarefas , Materiais de Ensino
19.
Mol Biol Cell ; 27(17): 2708-25, 2016 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-27385335

RESUMO

Various methods can provide a readout of the physical interaction between two biomolecules. A recently described tripartite split-GFP system has the potential to report by direct visualization via a fluorescence signal the intimate association of minimally tagged proteins expressed at their endogenous level in their native cellular milieu and can capture transient or weak interactions. Here we document the utility of this tripartite split-GFP system to assess in living cells protein-protein interactions in a dynamic cytoskeletal structure-the septin collar at the yeast bud neck. We show, first, that for septin-septin interactions, this method yields a robust signal whose strength reflects the known spacing between the subunits in septin filaments and thus serves as a "molecular ruler." Second, the method yields little or no spurious signal even with highly abundant cytosolic proteins readily accessible to the bud neck (including molecular chaperone Hsp82 and glycolytic enzyme Pgk1). Third, using two proteins (Bni5 and Hsl1) that have been shown by other means to bind directly to septins at the bud neck in vivo, we validate that the tripartite split-GFP method yields the same conclusions and further insights about specificity. Finally, we demonstrate the capacity of this approach to uncover additional new information by examining whether three other proteins reported to localize to the bud neck (Nis1, Bud4, and Hof1) are able to interact physically with any of the subunits in the septin collar and, if so, with which ones.


Assuntos
Domínios e Motivos de Interação entre Proteínas/fisiologia , Septinas/metabolismo , Proteínas de Transporte/metabolismo , Proteínas de Ciclo Celular/metabolismo , Proteínas do Citoesqueleto/metabolismo , Citoesqueleto/metabolismo , Proteínas de Ligação ao GTP/metabolismo , Proteínas de Fluorescência Verde , Proteínas Associadas aos Microtúbulos/metabolismo , Ligação Proteica/fisiologia , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismo , Saccharomycetales/metabolismo , Técnicas do Sistema de Duplo-Híbrido
20.
Mol Biol Cell ; 27(14): 2213-33, 2016 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-27193302

RESUMO

Passage through the eukaryotic cell cycle requires processes that are tightly regulated both spatially and temporally. Surveillance mechanisms (checkpoints) exert quality control and impose order on the timing and organization of downstream events by impeding cell cycle progression until the necessary components are available and undamaged and have acted in the proper sequence. In budding yeast, a checkpoint exists that does not allow timely execution of the G2/M transition unless and until a collar of septin filaments has properly assembled at the bud neck, which is the site where subsequent cytokinesis will occur. An essential component of this checkpoint is the large (1518-residue) protein kinase Hsl1, which localizes to the bud neck only if the septin collar has been correctly formed. Hsl1 reportedly interacts with particular septins; however, the precise molecular determinants in Hsl1 responsible for its recruitment to this cellular location during G2 have not been elucidated. We performed a comprehensive mutational dissection and accompanying image analysis to identify the sequence elements within Hsl1 responsible for its localization to the septins at the bud neck. Unexpectedly, we found that this targeting is multipartite. A segment of the central region of Hsl1 (residues 611-950), composed of two tandem, semiredundant but distinct septin-associating elements, is necessary and sufficient for binding to septin filaments both in vitro and in vivo. However, in addition to 611-950, efficient localization of Hsl1 to the septin collar in the cell obligatorily requires generalized targeting to the cytosolic face of the plasma membrane, a function normally provided by the C-terminal phosphatidylserine-binding KA1 domain (residues 1379-1518) in Hsl1 but that can be replaced by other, heterologous phosphatidylserine-binding sequences.


Assuntos
Proteínas Serina-Treonina Quinases/genética , Proteínas Serina-Treonina Quinases/metabolismo , Proteínas de Saccharomyces cerevisiae/genética , Proteínas de Saccharomyces cerevisiae/metabolismo , Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/metabolismo , Septinas/metabolismo , Sequência de Aminoácidos , Proteínas de Ciclo Celular/metabolismo , Divisão Celular/fisiologia , Citoesqueleto/metabolismo , Pontos de Checagem da Fase G2 do Ciclo Celular , Genes cdc , Fosforilação , Ligação Proteica , Saccharomyces cerevisiae/enzimologia , Saccharomycetales/genética , Saccharomycetales/metabolismo , Septinas/genética
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