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1.
Kidney360 ; 3(9): 1590-1598, 2022 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-36245667

RESUMO

Background: Kidney transplantation (KT) is a life-saving therapy for kidney failure. However, KT recipients can suffer from debilitating depression, post-traumatic stress disorder (PTSD), and suicide. In contrast to PTSD, post-traumatic growth (PTG) is a positive psychologic change in response to a challenging situation. PTG has been studied in other chronic diseases, but less is known about its role in the setting of KT. We sought to elucidate the prevalence, predictors, and the effect of PTSD and PTG on post-KT outcomes. We also considered the roles of benefit finding and resilience. Methods: In a literature review, we identified publications that examined PTSD, PTG, benefit finding, and/or resilience in KT recipients. We excluded case reports and first-person narratives. Publications meeting the specified criteria after full text review underwent data abstraction and descriptive analysis. Results: Of the 1013 unique citations identified, 39 publications met our criteria. PTSD was the most common construct evaluated (16 publications). Resilience was studied in 11 publications, PTG in nine, and benefit finding in five. Up to 21% of adult and 42% of pediatric KT recipients may experience PTSD, which is associated with lower quality of life (QOL), impaired sleep, and other psychiatric comorbidity. PTG was associated with improved QOL, kidney function, and reduced risk of organ rejection. Although benefit finding tended to increase post KT, resilience remained stable post KT. Like PTG, resilience was associated with lower psychologic distress and increased treatment adherence and confidence in the health care team. Conclusions: PTG, resilience, and benefit finding appear to reduce the risk of PTSD, promote well-being, and reduce risk of graft failure in KT recipients. Future research to understand these relationships better will allow clinicians and researchers to develop interventions to promote PTG, resilience, and benefit finding, and potentially improve post-transplant outcomes such as adherence and reducing risk of organ rejection.


Assuntos
Transplante de Rim , Crescimento Psicológico Pós-Traumático , Transtornos de Estresse Pós-Traumáticos , Adaptação Psicológica , Adulto , Criança , Humanos , Transplante de Rim/efeitos adversos , Qualidade de Vida/psicologia , Transtornos de Estresse Pós-Traumáticos/epidemiologia
2.
Nat Commun ; 13(1): 5618, 2022 09 24.
Artigo em Inglês | MEDLINE | ID: mdl-36153313

RESUMO

The chronology of the Paleocene-Eocene Thermal Maximum (PETM, ~56 Ma) remains disputed, hampering complete understanding of the possible trigger mechanisms of this event. Here we present an astrochronology for the PETM carbon isotope excursion from Howards Tract, Maryland a paleoshelf environment, on the mid-Atlantic Coastal Plain. Statistical evaluation of variations in calcium content and magnetic susceptibility indicates astronomical forcing was involved and the PETM onset lasted about 6 kyr. The astrochronology and Earth system modeling suggest that the PETM onset occurred at an extreme in precession during a maximum in eccentricity, thus favoring high temperatures, indicating that astronomical forcing could have played a role in triggering the event. Ca content data on the paleo-shelf, along with other marine records, support the notion that a carbonate saturation overshoot followed global ocean acidification during the PETM.


Assuntos
Cálcio , Água do Mar , Isótopos de Carbono , Planeta Terra , Concentração de Íons de Hidrogênio
3.
Sci Adv ; 8(11): eabg1025, 2022 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-35294237

RESUMO

The Paleocene-Eocene Thermal Maximum (PETM) is recognized by a major negative carbon isotope (δ13C) excursion (CIE) signifying an injection of isotopically light carbon into exogenic reservoirs, the mass, source, and tempo of which continue to be debated. Evidence of a transient precursor carbon release(s) has been identified in a few localities, although it remains equivocal whether there is a global signal. Here, we present foraminiferal δ13C records from a marine continental margin section, which reveal a 1.0 to 1.5‰ negative pre-onset excursion (POE), and concomitant rise in sea surface temperature of at least 2°C and a decline in ocean pH. The recovery of both δ13C and pH before the CIE onset and apparent absence of a POE in deep-sea records suggests a rapid (< ocean mixing time scales) carbon release, followed by recovery driven by deep-sea mixing. Carbon released during the POE is therefore likely more similar to ongoing anthropogenic emissions in mass and rate than the main CIE.

4.
Liver Transpl ; 28(3): 422-436, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34529886

RESUMO

Survivorship after liver transplantation (LT) is a novel concept providing a holistic view of the arduous recovery experienced after transplantation. We explored components of early survivorship including physical, emotional, and psychological challenges to identify intervention targets for improving the recovery process of LT recipients and caregivers. A total of 20 in-person interviews were conducted among adults 3 to 6 months after LT. Trained qualitative research experts conducted interviews, coded, and analyzed transcripts to identify relevant themes and representative quotes. Early survivorship comprises overcoming (1) physical challenges, with the most challenging experiences involving mobility, driving, dietary modifications, and medication adherence, and (2) emotional and psychological challenges, including new health concerns, financial worries, body image/identity struggles, social isolation, dependency issues, and concerns about never returning to normal. Etiology of liver disease informed survivorship experiences including some patients with hepatocellular carcinoma expressing decisional regret or uncertainty in light of their post-LT experiences. Important topics were identified that framed LT recovery including setting expectations about waitlist experiences, hospital recovery, and ongoing medication requirements. Early survivorship after LT within the first 6 months involves a wide array of physical, emotional, and psychological challenges. Patients and caregivers identified what they wish they had known prior to LT and strategies for recovery, which can inform targeted LT survivorship interventions.


Assuntos
Transplante de Fígado , Sobrevivência , Adulto , Cuidadores/psicologia , Humanos , Transplante de Fígado/efeitos adversos , Transplante de Fígado/psicologia , Pesquisa Qualitativa , Qualidade de Vida/psicologia
5.
Fed Pract ; 38(9): 426-430, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34737540

RESUMO

BACKGROUND: Increasing prevalence of antibiotic resistance is an urgent public health threat. The purpose of this project is to implement a pharmacist-managed culture review service to decrease and prevent inappropriate use of antibiotics. This service will intervene in cases of mismatched antibiotic-bacteria combinations to decrease health care provider (HCP) and nursing interruptions, improve patient outcomes, and enhance prescribing practices to reduce occurrence of antibiotic resistance. OBSERVATIONS: Patients requiring changes in antibiotic therapy after culture and susceptibility results were identified through the electronic health record. After results were returned, pharmacists assessed the antibiotic for appropriateness. If the isolated organism was not susceptible to the empiric antibiotic, the pharmacist adjusted the regimen, counseled the patient, documented the intervention electronically, and notified the HCP via an electronic note. Follow-up phone calls assessed for adverse effects and answered patient questions. Pharmacists could change antibiotic therapy without contacting HCPs because of an antimicrobial stewardship care coordination agreement between HCPs and pharmacists. Previously, HCPs were responsible for evaluating culture and susceptibility results as well as adjusting antimicrobial regimens. After implementing this project, 10 interventions were made out of 320 patients from August 2019 to February 2020. CONCLUSIONS: Appropriateness of antibiotic therapy through antimicrobial stewardship could help combat the significant public health issue of antibiotic resistance.

6.
Prog Transplant ; 31(2): 108-116, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34080486

RESUMO

INTRODUCTION: Living donor transplantation of kidneys accounts for one quarter of transplants performed in the United States. Careful screening of psychiatric history is a standard part of the donor evaluation. Little is known about the impact of psychiatric history on post-donation course and pain experience. RESEARCH QUESTION: This study investigated whether psychiatric history was associated with pain and related outcomes among living kidney donors. DESIGN: A retrospective medical record review was conducted of 75 living kidney donors who underwent laparoscopic donor nephrectomy. All donor candidates completed a psychological evaluation and were approved for donation by a multidisciplinary committee. History of psychiatric diagnosis and psychiatric medication use were obtained from donors' psychological evaluation reports. Data on pain and related outcomes (ie, history of prescribed pain medication, post-donation pain, opioid use, length of hospital stay, post-donation emergency department visits), as well as demographic and donation-related characteristics were also abstracted from medical records. RESULTS: Psychiatric history, including current or historical psychiatric diagnosis or psychiatric medication use, in living kidney donors who were evaluated and approved for donation by a transplant psychologist was not associated with greater perceived pain, greater use of opioid pain medication in the post-operative period, longer hospital stays, or more frequent post-donation emergency department visits. DISCUSSION: The findings demonstrate that carefully screened donors with a psychiatric history have comparable pain-related outcomes as donors without a psychiatric history. This study highlights the importance of the pre-donation psychological evaluation in promoting positive postdonation outcomes through careful selection of donor candidates.


Assuntos
Transplante de Rim , Doadores Vivos , Humanos , Rim , Nefrectomia , Dor , Estudos Retrospectivos
7.
Liver Transpl ; 27(10): 1454-1467, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33942480

RESUMO

Survivorship is a well-established concept in the cancer care continuum with a focus on disease recurrence, quality of life, and the minimization of competing risks for mortality; however, survivorship has not been well studied in liver transplantation (LT). We investigated what survivorship means to LT patients and identified motivations and coping strategies for overcoming challenges after LT. A total of 20 in-depth home interviews were conducted among adults 3 to 6 months after LT. Interviews were conducted by trained qualitative research experts and coded and analyzed using an inductive approach. A majority of LT recipients (75%) identified themselves as survivors. Integral to the definition of survivorship was overcoming hardship (including experiences on the waiting list) and the unique experience of being given a "second chance" at life. Motivations to survive included a new chance at life (55%), family (40%), spirituality/faith (30%), and fear of rejection (15%). LT recipients and caregivers identified multiple strategies to cope with post-LT challenges, including relying on a large network of community, spiritual, and virtual support. These findings informed a conceptual model of LT survivorship based on socioecological theory, which identified the following variables influencing survivorship: (1) pretransplant experiences, (2) individual attributes and challenges, (3) interpersonal relationships with caregivers and other social support, (4) community relationships, and (5) large-scale factors including neighborhood and financial issues. LT recipients identified themselves as survivors, and post-LT identities were greatly influenced by pre-LT experiences. These perspectives informed an in-depth conceptual model of survivorship after transplantation. We identified sources of motivation and coping strategies used in LT recovery that could be targets of survivorship interventions aimed at improving post-LT outcomes.


Assuntos
Transplante de Fígado , Sobrevivência , Adaptação Psicológica , Adulto , Humanos , Pesquisa Qualitativa , Qualidade de Vida , Sobreviventes , Transplantados
8.
Clin Transplant ; 35(5): e14248, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33555627

RESUMO

BACKGROUND: We investigate whether marijuana use in living kidney donor candidates is associated with psychosocial risk factors that place donors at higher risk for adverse outcomes and the unique associations between marijuana use and donor candidacy. METHODS: Medical records of 757 living kidney donor candidates were reviewed. Patients were grouped into marijuana users/abstainers; demographic, psychiatric, and substance use variables were compared. Multivariate logistic regression assessed the independent association of marijuana use on committee approval for donation. RESULTS: Marijuana use was associated with lack of health insurance, legal history, lower education level, active and history of substance use disorder, active psychiatric disorder, history of multiple psychiatric diagnoses, and history of suicidality. Marijuana users were also more likely to be young, male, unmarried, and less likely to be approved for donation by the multidisciplinary selection committee. This latter association persisted in multivariate models. CONCLUSIONS: This is the first study to show that marijuana use is associated with psychosocial factors that could impact behavioral adherence following kidney donation, while reducing chances of committee approval for kidney donation. Special attention to potential overlay between psychosocial risk factors and marijuana use should be considered when evaluating kidney donors, particularly in context of increasingly legal use.


Assuntos
Transplante de Rim , Uso da Maconha , Humanos , Rim , Doadores Vivos , Masculino , Coleta de Tecidos e Órgãos
9.
Neuroimage ; 221: 117199, 2020 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-32736001

RESUMO

One of the earliest indicators of Alzheimer's disease pathology is the presence of beta-amyloid (Αß) protein deposition. Significant amyloid deposition is evident even in older adults who exhibit little or no overt cognitive or memory impairment. Hippocampal-based processes that help distinguish between highly similar memory representations may be the most susceptible to early disease pathology. Amyloid associations with memory have been difficult to establish, possibly because typical memory assessments do not tax hippocampal operations sufficiently. Thus, the present study utilized a spatial mnemonic discrimination task designed to tax hippocampal pattern separation/completion processes in a sample of cognitively normal middle-aged and older adults (53-98 years old) who underwent PET 18F-Florbetapir Αß scanning. The degree of interference between studied and new information varied, allowing for an examination of mnemonic discrimination as a function of mnemonic similarity. Results indicated that greater beta-amyloid burden was associated with poorer discrimination across decreasing levels of interference, suggesting that even subtle elevation of beta-amyloid in cognitively normal adults is associated with impoverished performance on a hippocampally demanding memory task. The present study demonstrates that degree of amyloid burden negatively impacts the ability of aging adults to accurately distinguish old from increasingly distinct new information, providing novel insight into the cognitive expression of beta-amyloid neuropathology.


Assuntos
Peptídeos beta-Amiloides/metabolismo , Envelhecimento Cognitivo/fisiologia , Hipocampo/fisiologia , Neuroimagem , Tomografia por Emissão de Pósitrons , Reconhecimento Psicológico/fisiologia , Memória Espacial/fisiologia , Idoso , Idoso de 80 Anos ou mais , Compostos de Anilina/farmacocinética , Etilenoglicóis/farmacocinética , Feminino , Hipocampo/diagnóstico por imagem , Hipocampo/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade
10.
Psychol Aging ; 33(1): 109-118, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29494182

RESUMO

Decline in associative memory abilities is a common cognitive complaint among older adults and is detectable in both normal aging and in prodromal Alzheimer's disease (AD). Subjective memory (SM) complaints may serve as an earlier marker of these mnemonic changes; however, previous research examining the predictive utility of SM to observed memory performance yielded inconsistent results. This inconsistency is likely due to other sources of variance that occur with memory decline such as mood/depression issues, presence of apolipoprotein E (APOE ε4) genotype, or beta-amyloid deposition. Here we examine the relationship between SM and associative memory ability in the context of factors that increase susceptibility to AD in 195 healthy adults (79 men) aged 20-94 years. Participants completed an SM questionnaire, a mood/depression scale, two associative memory tests (a word-pair and a name-face test), and were genotyped for APOE ε4. PET-amyloid imaging data were collected for a subset of those over 50 years of age (N = 74). We found that SM predicted performance on both associative memory tests even after covarying for age, sex, mood, and APOE ε4 status. Interestingly, for the name-face associative task, increased SM concerns predicted memory performance selectively in participants over the age of 60, with the APOEε4 risk group showing the strongest effect. Finally, men with higher beta-amyloid deposition reported more memory complaints. Our findings suggest that SM reliably tracks memory performance, even in cognitively healthy adults, and may reflect an increased risk for AD. (PsycINFO Database Record


Assuntos
Envelhecimento/psicologia , Apolipoproteínas E/genética , Memória , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Adulto Jovem
11.
Neuroimage ; 166: 285-292, 2018 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-29108941

RESUMO

Beta-amyloid (Aß) positive individuals hyper-activate brain regions compared to those not at-risk; however, hyperactivation is then thought to diminish as Alzheimer's disease symptomatology begins, evidencing eventual hypoactivation. It remains unclear when in the disease staging this transition occurs. We hypothesized that differential levels of amyloid burden would be associated with both increased and decreased activation (i.e., a quadratic trajectory) in cognitively-normal adults. Participants (N = 62; aged 51-94) underwent an fMRI spatial distance-judgment task and Amyvid-PET scanning. Voxelwise regression modeled age, linear-Aß, and quadratic-Aß as predictors of BOLD activation to difficult spatial distance-judgments. A significant quadratic-Aß effect on BOLD response explained differential activation in bilateral angular/temporal and medial prefrontal cortices, such that individuals with slightly elevated Aß burden exhibited hyperactivation whereas even higher Aß burden was then associated with hypoactivation. Importantly, in high-Aß individuals, Aß load moderated the effect of BOLD activation on behavioral task performance, where in lower-elevation, greater deactivation was associated with better accuracy, but in higher-elevation, greater deactivation was associated with poorer accuracy during the task. This study reveals a dose-response, quadratic relationship between increasing Aß burden and alterations in BOLD activation to cognitive challenge in cognitively-normal individuals that suggests 1) the shift from hyper-to hypo-activation may begin early in disease staging, 2) depends, in part, on degree of Aß burden, and 3) tracks cognitive performance.


Assuntos
Envelhecimento/fisiologia , Peptídeos beta-Amiloides/metabolismo , Cognição/fisiologia , Neuroimagem Funcional/métodos , Imageamento por Ressonância Magnética/métodos , Tomografia por Emissão de Pósitrons/métodos , Córtex Pré-Frontal/fisiologia , Desempenho Psicomotor/fisiologia , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/metabolismo , Percepção de Distância/fisiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Córtex Pré-Frontal/diagnóstico por imagem , Córtex Pré-Frontal/metabolismo
12.
J Genet Couns ; 27(3): 597-607, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-28980162

RESUMO

The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.


Assuntos
Surdez/psicologia , Aconselhamento Genético/psicologia , Testes Genéticos , Pais/psicologia , Pessoas com Deficiência Auditiva/psicologia , Adulto , Atitude Frente a Saúde , Criança , Surdez/diagnóstico , Tomada de Decisões , Feminino , Grupos Focais , Predisposição Genética para Doença/psicologia , Humanos , Masculino , Fatores Socioeconômicos
13.
Int J Pediatr Otorhinolaryngol ; 95: 121-126, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28576520

RESUMO

INTRODUCTION: The advent of chromosome microarray analysis (CMA) for evaluation of patients with multiple congenital anomalies has made it possible to define chromosomal imbalances with greater precision and resolutions significantly smaller than possible by standard G-banded chromosome analysis. We describe two patients with novel chromosomal anomalies involving chromosome 22q13, a locus also associated with Phelan-McDermid syndrome (PMS). OBJECTIVE: We aim to characterize the novel phenotypic and genotypic findings of two patients with 22q13 microdeletions, distinct from PMS, comparing and contrasting with features of PMS. RESULTS: Case 1 is a 4-year-old boy with global developmental delay, esotropia, moderate aortic root dilation, genu valgum, and in-toeing gait. MRI brain for evaluation of neonatal hypotonia revealed a left cerebellopontine angle arachnoid cyst. He referred on newborn hearing screening, and diagnostic auditory brainstem response (ABR) showed left profound retrocochlear hearing loss. Surgical intervention for the arachnoid cyst was deferred, with spontaneous resolution at age two years without hearing recovery. CMA revealed a novel, de novo 5.1 Mb microdeletion of 22q13.31q13.33 not involving SHANK3, a gene typically deleted in PMS. Case 2 is a 6-year-old girl with some features also seen in patients with PMS but also several atypical features. She has a complex chromosomal rearrangement including a 5.3 Mb 22q13 microdeletion (not including SHANK3) and de novo 2.1 Mb gain of 22q11. CONCLUSION: As diagnostic sensitivity improves, smaller chromosomal imbalances will be detectable related to milder or different phenotypes. We present two patients with novel deletions of chromosome 22q13 associated with multiple congenital anomalies and features distinct from PMS.


Assuntos
Transtornos Cromossômicos/genética , Anormalidades Múltiplas , Criança , Pré-Escolar , Aberrações Cromossômicas , Deleção Cromossômica , Transtornos Cromossômicos/diagnóstico , Cromossomos Humanos Par 22/genética , Deficiências do Desenvolvimento , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Feminino , Genótipo , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Análise de Sequência com Séries de Oligonucleotídeos
14.
JAMA Otolaryngol Head Neck Surg ; 143(7): 656-662, 2017 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-28384775

RESUMO

Importance: Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. Objective: To describe 7 cases of SCDS across 3 families. Design, Setting, and Participants: This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence. Interventions: Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings. Main Outcomes and Measures: The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence. Results: A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0. Conclusions and Relevance: Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology. Symptomatic first-degree relatives of patients diagnosed with SCDS should be offered evaluation to improve detection of this disorder.


Assuntos
Doenças do Labirinto/diagnóstico , Doenças do Labirinto/genética , Canais Semicirculares/anormalidades , Osso Temporal/anormalidades , Adolescente , Adulto , Audiometria de Resposta Evocada , Índice de Massa Corporal , Criança , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Síndrome , Tomografia Computadorizada por Raios X , Potenciais Evocados Miogênicos Vestibulares
15.
JAMA Otolaryngol Head Neck Surg ; 142(6): 538-43, 2016 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-26967534

RESUMO

IMPORTANCE: An unacceptably high number of children who do not pass universal newborn hearing screening (UNHS) are lost to follow-up. OBJECTIVES: To provide insight into parent recall of UNHS. DESIGN, SETTING, AND PARTICIPANTS: In this nationally representative cross-sectional survey, 2144 US parent households were surveyed in May 2012 using the Knowledge Panel. Responses of parents whose children were born before vs after UNHS implementation were compared. MAIN OUTCOMES AND MEASURES: Outcome measures included recall of hearing screen at birth, hearing screen results, and recommendations for follow-up. All outcome measures were based on parent recall and report. Descriptive statistics and multiple logistic regression analyses were used. RESULTS: The study participants included 1539 parent households and 605 nonparent households. Of the 1539 parent households surveyed, the mean age of the parents was 38.8 years (range, 18-88 years), the mean age of the children was 10.2 years (range, 0-17 years), and the mean age of children with hearing loss was 12.1 years (range, 0-17 years). A total of 1539 parents (55.8%) were women. Only 62.9% of parents (unweighted n = 950) recalled a newborn hearing screen, and among those children with risk indicators for hearing loss (n = 587), only 68.6% (unweighted n = 385) recalled a hearing screen. Higher parent educational level (odds ratio [OR], 2.27; 95% CI, 1.17-4.41, for some college and OR, 2.41; 95% CI, 1.22-4.78, for a bachelor's degree; P = .03), younger age of the child (OR, 1.16; 95% CI, 1.11-1.23; P < .001), and the presence of any risk indicator for hearing loss (OR, 1.5; 95% CI, 1.13-2.13; P = .007) were associated with parent recall of hearing screen. Reported pass rates were higher than expected. Parent recall of follow-up recommendations was not always consistent with guidelines. CONCLUSIONS AND RELEVANCE: Although this study is inherently limited by recall bias, the findings indicate a lack of parent awareness of UNHS. Changes in the system of reporting UNHS results are necessary to improve parent recall of screen results and improve follow-up for children who do not pass the screen.


Assuntos
Testes Auditivos , Rememoração Mental , Triagem Neonatal , Pais , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Estudos Transversais , Escolaridade , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Michigan , Pessoa de Meia-Idade , Inquéritos e Questionários , Adulto Jovem
16.
eNeuro ; 3(6)2016.
Artigo em Inglês | MEDLINE | ID: mdl-28058271

RESUMO

Auditory neuropathy 1 (AUNA1) is a form of human deafness resulting from a point mutation in the 5' untranslated region of the Diaphanous homolog 3 (DIAPH3) gene. Notably, the DIAPH3 mutation leads to the overexpression of the DIAPH3 protein, a formin family member involved in cytoskeleton dynamics. Through study of diap3-overexpressing transgenic (Tg) mice, we examine in further detail the anatomical, functional, and molecular mechanisms underlying AUNA1. We identify diap3 as a component of the hair cells apical pole in wild-type mice. In the diap3-overexpressing Tg mice, which show a progressive threshold shift associated with a defect in inner hair cells (IHCs), the neurotransmitter release and potassium conductances are not affected. Strikingly, the overexpression of diap3 results in a selective and early-onset alteration of the IHC cuticular plate. Molecular dissection of the apical components revealed that the microtubule meshwork first undergoes aberrant targeting into the cuticular plate of Tg IHCs, followed by collapse of the stereociliary bundle, with eventual loss of the IHC capacity to transmit incoming auditory stimuli.


Assuntos
Células Ciliadas Auditivas Internas/metabolismo , Perda Auditiva Central/metabolismo , Microtúbulos/metabolismo , Animais , Cálcio/metabolismo , Células HEK293 , Células Ciliadas Auditivas Internas/patologia , Perda Auditiva Central/patologia , Humanos , Potenciais da Membrana/fisiologia , Camundongos Transgênicos , Proteínas Associadas aos Microtúbulos/genética , Proteínas Associadas aos Microtúbulos/metabolismo , Microtúbulos/patologia , NADPH Desidrogenase/genética , NADPH Desidrogenase/metabolismo , Emissões Otoacústicas Espontâneas/fisiologia , Potássio/metabolismo , Vesículas Sinápticas/metabolismo , Vesículas Sinápticas/patologia
17.
Otol Neurotol ; 36(10): 1651-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26474326

RESUMO

OBJECTIVE: To describe the human temporal bone histopathology in NOG-related symphalangism spectrum disorder, a spectrum of congenital stape fixation syndromes caused by mutations in the NOG gene. To discuss implications for clinical management. PATIENT: A patient with a mutation in the NOG gene. INTERVENTION(S): Removal of temporal bones, postmortem temporal bone computed tomography, histologic processing, and review of temporal bones. MAIN OUTCOME MEASURE(S): Temporal bone histopathology and correlation with clinical, genetic, audiologic, and radiologic evaluations. RESULTS: Both temporal bones demonstrated fixation of the stapes footplate to the otic capsule because of a circumferential bridge of calcified cartilage. In the right ear (unoperated), there was no additional abnormality of the ossicles or ossicular joints. In the left ear, fenestrations of the stapes footplate and the lateral semicircular canal were seen, consistent with a history of stapedectomy and fenestration procedure. Severe loss of spiral ganglion neurons throughout the left cochlea accounted for the profound sensorineural hearing loss; there was a normal number of spiral ganglion neurons in the right ear. In both ears, the cochleae demonstrated grossly preserved organs of Corti. CONCLUSION: The temporal bone pathologic correlate for conductive hearing loss in this patient with a NOG mutation was circumferentially calcified cartilage bridging the stapedovestibular joint space. The temporal bone histopathology findings suggest that conductive hearing loss related to NOG mutation should be improved after stapedectomy; however, care must be taken in extrapolating to all patients with NOG mutations because there may be variability in the pathology, especially given the variability of NOG spectrum disorders.


Assuntos
Proteínas de Transporte/genética , Anormalidades Musculoesqueléticas/genética , Anormalidades Musculoesqueléticas/patologia , Estribo/patologia , Osso Temporal/patologia , Idoso , Perda Auditiva Condutiva/genética , Humanos , Masculino , Mutação , Síndrome
18.
Int J Pediatr Otorhinolaryngol ; 79(6): 929-931, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25908408

RESUMO

Frey's syndrome in children is rare and often erroneously attributed to food allergy. Here we describe a case of Frey's syndrome in an infant and provide a review of the literature. Awareness of this condition is important for the Otolaryngologist in order to avoid unnecessary medical costs and procedures and provide reassurance to both parents and primary care providers in the setting of this benign condition.


Assuntos
Eritema/etiologia , Dermatoses Faciais/etiologia , Sudorese Gustativa/complicações , Humanos , Lactente , Masculino , Sudorese Gustativa/diagnóstico , Síndrome
19.
Brain Res ; 1612: 104-17, 2015 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-25264352

RESUMO

The BDNF val66met polymorphism (rs6265) influences activity-dependent secretion of brain-derived neurotrophic factor in the synapse, which is crucial for learning and memory. Individuals homozygous or heterozygous for the met allele have lower BDNF secretion than val homozygotes and may be at risk for reduced declarative memory performance, but it remains unclear which types of declarative memory may be affected and how aging of memory across the lifespan is impacted by the BDNF val66met polymorphism. This cross-sectional study investigated the effects of BDNF polymorphism on multiple indices of memory (item, associative, prospective, subjective complaints) in a lifespan sample of 116 healthy adults aged 20-93 years. Advancing age showed a negative effect on item, associative and prospective memory, but not on subjective memory complaints. For item and prospective memory, there were significant age×BDNF group interactions, indicating the adverse effect of age on memory performance across the lifespan was much stronger in the BDNF met carriers than for the val homozygotes. BDNF met carriers also endorsed significantly greater subjective memory complaints, regardless of age, and showed a trend (p<.07) toward poorer associative memory performance compared to val homozygotes. These results suggest that genetic predisposition to the availability of brain-derived neurotrophic factor, by way of the BDNF val66met polymorphism, exerts an influence on multiple indices of episodic memory - in some cases in all individuals regardless of age (subjective memory and perhaps associative memory), in others as an exacerbation of age-related differences in memory across the lifespan (item and prospective memory). This article is part of a Special Issue entitled Memory & Aging.


Assuntos
Envelhecimento/fisiologia , Fator Neurotrófico Derivado do Encéfalo/genética , Memória/fisiologia , Metionina/genética , Polimorfismo de Nucleotídeo Único/genética , Valina/genética , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Memória/classificação , Entrevista Psiquiátrica Padronizada , Pessoa de Meia-Idade , Testes Neuropsicológicos , Adulto Jovem
20.
Laryngoscope ; 124(2): 570-8, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23900836

RESUMO

OBJECTIVES/HYPOTHESIS: The prevalence of hearing loss (HL) in adolescents has grown over the past decade, but hearing-related quality of life (QOL) has not been well-measured. We sought to develop a reliable, valid measure of hearing-related QOL for adolescents and the Hearing Environments And Reflection on Quality of Life (HEAR-QL). STUDY DESIGN: Multisite observational study. METHODS: Adolescents with HL and siblings without HL were recruited from five centers. Participants completed the HEAR-QL and validated questionnaires measuring generic pediatric QOL (PedsQL), depression and anxiety (RCADS-25), and hearing-related QOL for adults (HHIA) to determine construct and discriminant validity. Participants completed the HEAR-QL 2 weeks later for test-retest reliability. We used exploratory principal components analysis to determine the HEAR-QL factor structure and measured reliability. Sensitivity and specificity of the HEAR-QL, PedsQL, HHIA, and RCADS-25 were assessed. We compared scores on all surveys between those with normal hearing, unilateral, and bilateral HL. RESULTS: A total of 233 adolescents (13-18 years old) participated: 179 with HL, 54 without HL. The original 45-item HEAR-QL was shortened to 28 items after determining factor structure. The resulting HEAR-QL-28 demonstrated excellent reliability (Cronbach's alpha = 0.95) and construct validity (HHIA: r = .845, PedsQL: r = .587; RCADS-25: r = .433). The HEAR-QL-28 displayed excellent discriminant validity, with higher area under the curve (0.932) than the PedsQL (0.597) or RCADS-25 (0.529). Teens with bilateral HL using hearing devices reported worse QOL on the HEAR-QL and HHIA than peers with HL not using devices. CONCLUSIONS: The HEAR-QL is a sensitive, reliable, and valid measure of hearing-related QOL for adolescents. LEVEL OF EVIDENCE: 2b.


Assuntos
Perda Auditiva/fisiopatologia , Audição , Qualidade de Vida , Inquéritos e Questionários , Adolescente , Feminino , Humanos , Masculino , Reprodutibilidade dos Testes
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