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1.
Hear Res ; 439: 108898, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37890241

RESUMEN

Loss of function of stereocilin (STRC) is the second most common cause of inherited hearing loss. The loss of the stereocilin protein, encoded by the STRC gene, induces the loss of connection between outer hair cells and tectorial membrane. This only affects the outer hair cells (OHCs) function, involving deficits of active cochlear frequency selectivity and amplifier functions despite preservation of normal inner hair cells. Better understanding of cochlear features associated with mutation of STRC will improve our knowledge of normal cochlear function, the pathophysiology of hearing impairment, and potentially enhance hearing aid and cochlear implant signal processing. Nine subjects with homozygous or compound heterozygous loss of function mutations in STRC were included, age 7-24 years. Temporal and spectral modulation perception were measured, characterized by spectral and temporal modulation transfer functions. Speech-in-noise perception was studied with spondee identification in adaptive steady-state noise and AzBio sentences with 0 and -5 dB SNR multitalker babble. Results were compared with normal hearing (NH) and cochlear implant (CI) listeners to place STRC-/- listeners' hearing capacity in context. Spectral ripple discrimination thresholds in the STRC-/- subjects were poorer than in NH listeners (p < 0.0001) but remained better than for CI listeners (p < 0.0001). Frequency resolution appeared impaired in the STRC-/- group compared to NH listeners but did not reach statistical significance (p = 0.06). Compared to NH listeners, amplitude modulation detection thresholds in the STRC-/- group did not reach significance (p=  0.06) but were better than in CI subjects (p < 0.0001). Temporal resolution in STRC-/- subjects was similar to NH (p = 0.98) but better than in CI listeners (p = 0.04). The spondee reception threshold in the STRC-/- group was worse than NH listeners (p = 0.0008) but better than CI listeners (p = 0.0001). For AzBio sentences, performance at 0 dB SNR was similar between the STRC-/- group and the NH group, 88 % and 97 % respectively. For -5 dB SNR, the STRC-/- performance was significantly poorer than NH, 40 % and 85 % respectively, yet much better than with CI who performed at 54 % at +5 dB SNR in children and 53 % at + 10 dB SNR in adults. To our knowledge, this is the first study of the psychoacoustic performance of human subjects lacking cochlear amplification but with normal inner hair cell function. Our data demonstrate preservation of temporal resolution and a trend to impaired frequency resolution in this group without reaching statistical significance. Speech-in-noise perception compared to NH listeners was impaired as well. All measures were better than those in CI listeners. It remains to be seen if hearing aid modifications, customized for the spectral deficits in STRC-/- listeners can improve speech understanding in noise. Since cochlear implants are also limited by deficient spectral selectivity, STRC-/- hearing may provide an upper bound on what could be obtained with better temporal coding in electrical stimulation.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Pérdida Auditiva , Percepción del Habla , Adulto , Niño , Humanos , Adolescente , Adulto Joven , Audición/fisiología , Pérdida Auditiva/diagnóstico , Ruido/efectos adversos , Percepción del Habla/fisiología , Péptidos y Proteínas de Señalización Intercelular
2.
Cognition ; 240: 105580, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37572564

RESUMEN

The ability to identify people who are prosocial, supportive, and mindful of others is critical for choosing social partners. While past work has emphasized the information value of direct social interactions (such as watching someone help or hinder others), social tendencies can also be inferred from indirect evidence, such as how an agent considers others when making personal choices. Here we present a computational model of this capacity, grounded in a Bayesian framework for action understanding. Across four experiments we show that this model captures how people infer social preferences based on how agents act when their choices indirectly impact others (Experiments 1a, 1b, & 1c), and how people infer what an agent knows about others from knowledge of that agent's social preferences (Experiment 2). Critically, people's patterns of inferences could not be explained by simpler alternatives. These findings illuminate how people can discern potential social partners from indirect evidence of their prosociality, thus deepening our understanding of partner detection, and social cognition more broadly.


Asunto(s)
Atención Plena , Percepción Social , Humanos , Teorema de Bayes , Conocimiento
4.
Fam Process ; 62(3): 899-914, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37156533

RESUMEN

A lack of diversity exists in couples research with an overrepresentation of white, middle to upper income couples. Additionally, researchers often do not reflect the study sample, particularly when studying underrepresented minority and historically marginalized (URM-HM) populations. Emancipatory research practices focus on language, processes, and practices to ensure that researchers and the research they conduct honor and contribute to the empowerment of the URM-HM research participants. Therefore, in this paper, we discuss five critical considerations with recommendations for emancipatory research practices for including couples from URM-HM populations. The aim is to provide a framework for researchers to critically reflect on their work with URM-HM populations. The research practices include: (a) research positionality and reflexivity; (b) understanding of the population being served; (c) power and empowerment; (d) accountability, voice, and participant engagement; and (e) research that benefits URM-HM populations and challenges the systems that perpetuate inequities. Additionally, we present practical strategies to implement these five considerations based on our own experiences conducting community-effectiveness studies with low-income and diverse couples.


Asunto(s)
Empoderamiento , Pobreza , Humanos , Grupos Minoritarios , Lenguaje
5.
J Marital Fam Ther ; 49(3): 561-580, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37194737

RESUMEN

Relationship education (RE) has shown promise as an effective intervention for couples. Yet, challenges exist with retaining low-income couples and federal funding required that grantees provide at least 12 h of core content. We conducted a follow-up analysis to a randomized trial of RE with low-income couples. We focused on couples randomly assigned to the treatment (N = 579) and examined the influence of intervention hours on emotion regulation, dyadic coping, and individual distress at 1 and 6-month follow-up. Results of longitudinal actor-partner interdependence models indicated that women who completed the program reported fewer difficulties in emotion regulation at 6-month follow-up than women who attended fewer intervention hours. Additionally, men who completed reported more individual distress at 1-month follow-up than men who attended fewer hours. Given that most couples were Hispanic, we conducted an exploratory analysis to examine language as a covariate with mixed results.


Asunto(s)
Regulación Emocional , Relaciones Interpersonales , Masculino , Humanos , Femenino , Adaptación Psicológica , Pobreza/psicología , Satisfacción Personal
7.
Adv Radiat Oncol ; 8(2): 101131, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36845619

RESUMEN

Purpose: Recommendations from Cancer Care Ontario stress the importance of multidisciplinary care from radiologists and urologists for prostate cancer treatment. The present study sought to examine what percentage of patients had a consultation with a radiation oncologist before undergoing a radical prostatectomy in Ontario, Canada, between 2010 and 2019. Methods and Materials: Administrative health care databases were used to analyze the number of consultations billed to the Ontario Health Insurance Plan from radiologists and urologists who treated men with a first prostate cancer diagnosis (n = 22,169). Results: In Ontario, 94.70% of Ontario Health Insurance Plan billings for patients with prostate cancer who had a prostatectomy within 1 year of a prostate cancer diagnosis were from urology, and 37.66% and 1.77% of billings were received from radiation oncology and medical oncology specialties, respectively. When sociodemographic variables were examined, having a lower neighborhood income (adjusted odds ratio [aOR], 0.69; confidence interval [CI], 0.62-0.76) and a rural residence (aOR, 0.72; CI, 0.65-0.79) were associated with lower odds of receiving a consultation from a radiation oncologist. When billings for consultations were examined geographically by region, Northeast Ontario (Local Health Integrated Network 13) had the lowest odds of receiving a radiation consultation compared with the rest of Ontario (aOR, 0.50; CI, 0.42-0.59). Conclusions: The results of this study show that differences in equitable access to multidisciplinary health care exist for men with a first prostate cancer diagnosis who reside in more northern and rural regions within Ontario, relative to the rest of the province. The reasons for these findings are likely multifactorial and may include factors such as patient treatment preference and distance/travel to receive treatment. However, as diagnosis year increased, so did the chances of receiving a radiation oncologist consultation, and this upward trend may reflect the implementation of Cancer Care Ontario guidelines.

8.
JAMA Otolaryngol Head Neck Surg ; 149(3): 212-222, 2023 03 01.
Artículo en Inglés | MEDLINE | ID: mdl-36633841

RESUMEN

Importance: In the US, most childhood-onset bilateral sensorineural hearing loss is genetic, with more than 120 genes and thousands of different alleles known. Primary treatments are hearing aids and cochlear implants. Genetic diagnosis can inform progression of hearing loss, indicate potential syndromic features, and suggest best timing for individualized treatment. Objective: To identify the genetic causes of childhood-onset hearing loss and characterize severity, progression, and cochlear implant success associated with genotype in a single large clinical cohort. Design, Setting, and Participants: This cross-sectional analysis (genomics) and retrospective cohort analysis (audiological measures) were conducted from 2019 to 2022 at the otolaryngology and audiology clinics of Seattle Children's Hospital and the University of Washington and included 449 children from 406 families with bilateral sensorineural hearing loss with an onset younger than 18 years. Data were analyzed between January and June 2022. Main Outcomes and Measures: Genetic diagnoses based on genomic sequencing and structural variant analysis of the DNA of participants; severity and progression of hearing loss as measured by audiologic testing; and cochlear implant success as measured by pediatric and adult speech perception tests. Hearing thresholds and speech perception scores were evaluated with respect to age at implant, months since implant, and genotype using a multivariate analysis of variance and covariance. Results: Of 406 participants, 208 (51%) were female, 17 (4%) were African/African American, 32 (8%) were East Asian, 219 (54%) were European, 53 (13%) were Latino/Admixed American, and 16 (4%) were South Asian. Genomic analysis yielded genetic diagnoses for 210 of 406 families (52%), including 55 of 82 multiplex families (67%) and 155 of 324 singleton families (48%). Rates of genetic diagnosis were similar for children of all ancestries. Causal variants occurred in 43 different genes, with each child (with 1 exception) having causative variant(s) in only 1 gene. Hearing loss severity, affected frequencies, and progression varied by gene and, for some genes, by genotype within gene. For children with causative mutations in MYO6, OTOA, SLC26A4, TMPRSS3, or severe loss-of-function variants in GJB2, hearing loss was progressive, with losses of more than 10 dB per decade. For all children with cochlear implants, outcomes of adult speech perception tests were greater than preimplanted levels. Yet the degree of success varied substantially by genotype. Adjusting for age at implant and interval since implant, speech perception was highest for children with hearing loss due to MITF or TMPRSS3. Conclusions and Relevance: The results of this cross-sectional study suggest that genetic diagnosis is now sufficiently advanced to enable its integration into precision medical care for childhood-onset hearing loss.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Sordera , Pérdida Auditiva Sensorineural , Pérdida Auditiva , Percepción del Habla , Adulto , Femenino , Niño , Humanos , Masculino , Estudios Transversales , Estudios Retrospectivos , Sordera/cirugía , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/cirugía , Pérdida Auditiva Bilateral/diagnóstico , Pérdida Auditiva Bilateral/genética , Proteínas de la Membrana , Proteínas de Neoplasias , Serina Endopeptidasas
9.
Fam Process ; 62(3): 1217-1232, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-36127863

RESUMEN

Previous relationship education research has focused on investigating healthy relationships at the couple level, with limited research conducted on individual-oriented relationship education programs for economically disadvantaged individuals. More specifically, there is a lack of research on how individual-oriented relationship education programs contribute to changes in unique attributes of individuals who enroll in these programs and who would benefit most from relationship education programs. The primary aim of this study is to understand the stability of economically disadvantaged individuals' psychological distress and emotion regulation over two time points, comparing individuals randomly assigned to the relationship intervention using Prevention and Relationship Education's (PREP) Within My Reach (WMR) versus those assigned to a wait-list control. Using a sample of 1129 economically disadvantaged individuals enrolled in the study, results indicated that the three-class model for psychological distress and emotion regulation was the most appropriate for the latent transition analysis. Treatment group participants were more likely to transition to more adaptive models than their wait-list control counterparts, although a small percentage of participants did transition to a less adaptive model. Implications, future directions, and limitations are discussed.


Asunto(s)
Regulación Emocional , Distrés Psicológico , Humanos , Pobreza
11.
Fam Process ; 61(3): 966-969, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-36000213

RESUMEN

The focus of this special section is impact studies that were conducted as part of the Administration for Children and Families' Healthy Marriage and Responsible Fatherhood initiative. This initiative has led to more than 2 million people receiving relationship education and fatherhood programs across the United States over the last two decades. Community organizations develop these programs, select their curricula and content, and run these programs in their local communities. Many programs funded in the 2015-2020 cohort of grantees included randomized controlled trials of program effectiveness; some of these studies are presented in this issue, with the goal of marrying the field of program evaluation and family science.


Asunto(s)
Matrimonio , Niño , Escolaridad , Humanos , Evaluación de Programas y Proyectos de Salud , Estados Unidos
12.
J Exp Psychol Gen ; 151(12): 3144-3153, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35737526

RESUMEN

Empathy tracks socioemotional adjustment during early adolescence, yet adolescents this age tend to show reductions in empathy compared with younger children. Here we took a novel approach to building empathy among early adolescents in four middle schools (n = 857). Rather than addressing the ability to empathize, we targeted the motivation to empathize. To do so, we leveraged strategies demonstrated to change motivation among early adolescents: social norms and mindsets. Compared with those in other conditions, students who received a norms-based intervention reported greater motivation to empathize with others, which was in turn associated with increased peer-reported prosocial behaviors, as well as lower levels of loneliness and aggression. The effects of this norms condition were strongest at schools with relatively high engagement with the intervention. Findings suggest a novel avenue for increasing empathy among early adolescents-focusing on peer-driven motivation-and underscore the importance of context in shaping intervention outcomes. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Asunto(s)
Intervención en la Crisis (Psiquiatría) , Empatía , Niño , Adolescente , Humanos , Grupo Paritario , Instituciones Académicas , Estudiantes/psicología
13.
Fam Process ; 61(3): 1005-1020, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35545431

RESUMEN

Couples relationship education is grounded in teaching couples' skills and strategies to form and sustain healthy relationships. The purpose of this investigation was to examine the impact of a relationship education intervention on emotion regulation, individual distress, dyadic coping, and relationship adjustment utilizing a randomized control trial for economically vulnerable couples. The analysis sample included 1418 couples (2836 individuals) who were randomly assigned to receive the 12-h Within Our Reach curriculum immediately, or to a wait-list control group. We estimated multilevel growth curve models over time among outcomes between treatment and wait-list control conditions. Treatment group couples demonstrated statistically significant improvements over the 6-month study period on emotional regulation and dyadic coping when compared to their wait-list group counterparts. Although models showed improvements in individual distress and relationship adjustments, these improvements did not amount to statistically significant group differences. Implications and limitations are also noted.


Asunto(s)
Adaptación Psicológica , Terapia de Parejas , Relaciones Interpersonales , Terapia de Parejas/métodos , Composición Familiar , Humanos , Poblaciones Vulnerables
14.
Perspect Psychol Sci ; 17(5): 1359-1380, 2022 09.
Artículo en Inglés | MEDLINE | ID: mdl-35436157

RESUMEN

Selfishness is central to many theories of human morality, yet its psychological nature remains largely overlooked. Psychologists often draw on classical conceptions of selfishness from evolutionary biology (i.e., selfish gene theory), economics (i.e., rational self-interest), and philosophy (i.e., psychological egoism), but such characterizations offer limited insight into the psychology of selfishness. To address this gap, we propose a novel framework in which selfishness is recast as a psychological construction. From this view, selfishness is perceived in ourselves and others when we detect a situation-specific desire to benefit the self that disregards others' desires and prevailing social expectations for the situation. We argue that detecting and deterring such psychological selfishness in both oneself and others is crucial in social life-facilitating the maintenance of social cohesion and close relationships. In addition, we show how using this psychological framework offers a richer understanding of the nature of human social behavior. Delineating a psychological construct of selfishness can promote coherence in interdisciplinary research on selfishness and provide insights for interventions to prevent or remediate the negative effects of selfishness.


Asunto(s)
Evolución Biológica , Conducta Social , Humanos , Filosofía
15.
Nat Commun ; 13(1): 2252, 2022 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-35474044

RESUMEN

Flow is a subjective state characterized by immersion and engagement in one's current activity. The benefits of flow for productivity and health are well-documented, but a rigorous description of the flow-generating process remains elusive. Here we develop and empirically test a theory of flow's computational substrates: the informational theory of flow. Our theory draws on the concept of mutual information, a fundamental quantity in information theory that quantifies the strength of association between two variables. We propose that the mutual information between desired end states and means of attaining them - [Formula: see text] - gives rise to flow. We support our theory across five experiments (four preregistered) by showing, across multiple activities, that increasing [Formula: see text] increases flow and has important downstream benefits, including enhanced attention and enjoyment. We rule out alternative constructs including alternative metrics of associative strength, psychological constructs previously shown to predict flow, and various forms of instrumental value.

16.
Fam Process ; 61(1): 130-145, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-33904591

RESUMEN

Government-supported relationship education has provided resources for inclusion of economically vulnerable and ethnically diverse participants; however, many grantees and programs struggled to retain couples in longitudinal studies, which has likely influenced study effects and threatened internal validity. In the present study, we assessed 1,056 couples' baseline relationship satisfaction and intent-to-attend their next scheduled visit while participating in a randomized controlled trial of relationship education and evaluated the predictive ability of their responses to remain in the six-month study. We conducted actor-partner interdependence models for couples, using a probit cross-lagged regression with a structural equation modeling framework, to test the dyadic influence of intent-to-attend on future couple attendance. We also examined the influence of higher or lower baseline relationship satisfaction between partners and group assignment (treatment or wait-list control) on attendance. Intent-to-attend scores were associated with attendance for couples at the one-month follow-up, and early attendance was the biggest predictor of later attendance. Additionally, baseline intent-to-attend scores predicted later intent-to-attend scores for all follow-up time points. However, we found no partner effects, and no effects for the influence of baseline relationship satisfaction or group assignment. We discuss practical suggestions for including intent-to-attend in future studies, relationship education programming, and general therapy practice.


La capacitación en relaciones financiada por el gobierno ha facilitado recursos para la inclusión de participantes económicamente vulnerables y de distintas etnias; sin embargo, a muchos beneficiarios y programas les costó mantener a las parejas en los estudios longitudinales, lo cual probablemente haya influido en los efectos de los estudios y amenazado su validez interna. En el presente estudio, evaluamos la satisfacción con la relación en el momento basal de 1056 parejas y la intención de asistir a su próxima visita programada mientras participaban en un ensayo controlado aleatorizado de capacitación en relaciones, y evaluamos la capacidad predictiva de sus respuestas para permanecer en el estudio de seis meses. Implementamos modelos de interdependencia actor-pareja para las parejas usando un modelo Probit de regresión y retardo cruzado con un marco de modelos de ecuaciones estructurales con el fin de evaluar la influencia diádica de la intención de asistir en la asistencia futura de la pareja. También analizamos la influencia del nivel más bajo o más alto de satisfacción con la relación en el momento basal entre los integrantes de la pareja y la distribución a un grupo (de tratamiento o de control en lista de espera) en la asistencia. Los puntajes de la intención de asistir estuvieron asociados con la asistencia de las parejas en el seguimiento de un mes, y la asistencia inicial fue la mayor predictora de la asistencia posterior. Además, los puntajes de la intención de asistir en el momento basal predijeron los puntajes posteriores de la intención de asistir de todos los momentos de seguimiento. Sin embargo, no hallamos efectos de la pareja ni efectos de la influencia de la satisfacción con la relación o la distribución a un grupo en el momento basal. Comentamos sugerencias prácticas para incluir la intención de asistir en estudios futuros, en programas de capacitación en relaciones y en la práctica de la terapia general.


Asunto(s)
Educación en Salud , Relaciones Interpersonales , Humanos , Estudios Longitudinales , Satisfacción Personal
17.
J Marital Fam Ther ; 48(2): 484-501, 2022 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-34586628

RESUMEN

Research identifying specific mechanisms of positive change for couples participating in relationship education is scant. Recent studies have identified the potential of communication skills as a likely mechanism, yet more information is needed about the contribution of process factors. Thus, we examined the influence that quality time spent together had on positive post-intervention outcomes based on couples' reports of dyadic coping and dyadic adjustment for 1,367 low-income couples randomly assigned to receive relationship education. Results indicated that treatment couples reported significant gains in quality time spent together, and that those gains fully mediated positive changes in dyadic coping and adjustment. Additionally, actor and partner effects existed such that men's and women's reports of improved quality time influenced their own and their partners dyadic coping and dyadic adjustment. We discuss study implications for practice and future research.


Asunto(s)
Adaptación Psicológica , Relaciones Interpersonales , Femenino , Humanos , Masculino , Pobreza , Parejas Sexuales
18.
Psychol Rep ; 125(4): 2191-2212, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34034589

RESUMEN

Are humans ever truly altruistic? Or are all actions, however noble, ultimately motivated by self-interest? Psychologists and philosophers have long grappled with this question, but few have considered laypeople's beliefs about the nature of prosocial motives. Here we examine these beliefs and their social correlates across two experiments (N = 445). We find that people tend to believe humans can be, and frequently are, altruistically motivated-echoing prior work. Moreover, people who more strongly believe in altruistic motives act more prosocially themselves-for instance, sacrificing greater amounts of money and time to help others-a relationship that holds even when controlling for trait empathy. People who believe in altruistic motives also judge other prosocial agents to be more genuinely kind, especially when agents' motives are ambiguous. Lastly, people independently show a self-serving bias-believing their own motives for prosociality are more often altruistic than others'. Overall, this work suggests that believing in altruistic motives predicts the extent to which people both see altruism and act prosocially, possibly reflecting the self-fulfilling nature of such lay theories.


Asunto(s)
Altruismo , Motivación , Empatía , Humanos
19.
J Sex Marital Ther ; 47(5): 508-520, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33955320

RESUMEN

Technology use within relationships has been shown to produce potential rewards and costs that influence relationship development and/or sustainment; however, the negative influence of modern technology (i.e., smartphone, computer, tablet, and/or television) use in romantic relationships during quality time spent together (i.e., technoference) remains an understudied area. Even less is known about the effects of technoference on young adult couples' relationship satisfaction and sexual satisfaction. The current study utilized a descriptive correlational survey design with 158 young adult couples. We used actor-partner interdependence modeling to test the dyadic associations between technoference and relationship and sexual satisfaction among the young adult couple sample. Results indicated statistically significant negative actor effects between technoference and relationship and sexual satisfaction and statistically significant negative partner effects between technoference and relationship satisfaction.


Asunto(s)
Orgasmo , Parejas Sexuales , Humanos , Satisfacción Personal , Conducta Sexual , Adulto Joven
20.
Otol Neurotol ; 42(8): e1143-e1151, 2021 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-34049328

RESUMEN

OBJECTIVES: To better distinguish NOG-related-symphalangism spectrum disorder (NOG-SSD) from chromosomal 17q22 microdeletion syndromes and to inform surgical considerations in stapes surgery for patients with NOG-SSD. BACKGROUND: Mutations in NOG cause a variety of skeletal syndromes that often include conductive hearing loss. Several microdeletions of chromosome 17q22 lead to severe syndromes with clinical characteristics that overlap NOG-SSD. Isolated deletion of NOG has not been described, and therefore the contribution of NOG deletion in these syndromes is unknown. METHODS: Two families with autosomal dominant NOG-SSD exhibited stapes ankylosis, facial dysmorphisms, and skeletal and joint anomalies. In each family, NOG was evaluated by genomic sequencing and candidate mutations confirmed as damaging by in vitro assays. Temporal bone histology of a patient with NOG-SSD was compared with temporal bones of 40 patients diagnosed with otosclerosis. RESULTS: Family 1 harbors a 555 kb chromosomal deletion encompassing only NOG and ANKFN1. Family 2 harbors a missense mutation in NOG leading to absence of noggin protein. The incus-footplate distance of the temporal bone was significantly longer in a patient with NOG-SSD than in patients with otosclerosis. CONCLUSION: The chromosomal microdeletion of family 1 led to a phenotype comparable to that due to a NOG point mutation and much milder than the phenotypes due to other chromosome 17q22 microdeletions. Severe clinical findings in other microdeletion cases are likely due to deletion of genes other than NOG. Based on temporal bone findings, we recommend that surgeons obtain longer stapes prostheses before stapes surgery in individuals with NOG-SSD stapes ankylosis.


Asunto(s)
Deformidades Congénitas del Pie , Deformidades Congénitas de la Mano , Sinostosis , Huesos del Carpo/anomalías , Heterogeneidad Genética , Humanos , Estribo/anomalías , Sinostosis/genética , Huesos Tarsianos/anomalías
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