RESUMO
Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss.
Assuntos
Surdez , Perda Auditiva , Animais , Cóclea , Estudo de Associação Genômica Ampla , Perda Auditiva/genética , Humanos , Camundongos , Estria VascularRESUMO
Genome-wide association studies (GWAS) are used to investigate genetic variants contributing to complex traits. Despite discovering many loci, a large proportion of "missing" heritability remains unexplained. Gene-gene interactions may help explain some of this gap. Traditionally, gene-gene interactions have been evaluated using parametric statistical methods such as linear and logistic regression, with multifactor dimensionality reduction (MDR) used to address sparseness of data in high dimensions. We propose a method for the analysis of gene-gene interactions across independent single-nucleotide polymorphisms (SNPs) in two genes. Typical methods for this problem use statistics based on an asymptotic chi-squared mixture distribution, which is not easy to use. Here, we propose a Kullback-Leibler-type statistic, which follows an asymptotic, positive, normal distribution under the null hypothesis of no relationship between SNPs in the two genes, and normally distributed under the alternative hypothesis. The performance of the proposed method is evaluated by simulation studies, which show promising results. The method is also used to analyze real data and identifies gene-gene interactions among RAB3A, MADD, and PTPRN on type 2 diabetes (T2D) status.
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Epistasia Genética , Variação Genética , Estudo de Associação Genômica Ampla , Modelos Genéticos , Modelos Estatísticos , Herança Multifatorial , Algoritmos , Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Genética Populacional , Estudo de Associação Genômica Ampla/métodos , Humanos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
OBJECTIVE: To study national prevalence of dizziness and balance problems in US children and explore associated risk factors and patterns of healthcare utilization. STUDY DESIGN: A multistage, nationally representative, probability sample of children (n = 10,954; aged 3-17 years) was examined based on the 2012 National Health Interview Survey Child Balance Supplement. Parents were asked if during the past year their child was bothered by symptoms of dizziness and balance problems: vertigo (motion sensation), light-headedness/fainting, clumsiness/poor coordination, poor balance/unsteadiness when standing-up or walking, frequent falls, or other dizziness and balance problems. Logistic regression was used to examine associations with sociodemographic information, birth weight, developmental delays, and significant health conditions. RESULTS: Prevalence of dizziness and balance problems was 5.3% (3.3 million US children); females, 5.7%, males, 5.0%. Non-Hispanic white (6.1%) had increased prevalence compared with Hispanic (4.6%) and non-Hispanic black (4.3%) children, P = .01. Prevalence increased with age, from 4.1% for children aged 3-5 years to 7.5% for children aged 15-17 years, P < .001. Even though the majority had symptoms rated as "no problem" or "a small problem," 18.6% (600,000 US children) had symptoms rated as "moderate," "big," or "very big" problems. Overall, 36.0% of children with dizziness and balance problems were seen by healthcare professionals during the past year and 29.9% received treatment. Among children with dizziness and balance problems rated as moderate/big/very big problems, 71.6% had seen healthcare professionals and 62.4% received treatment for dizziness and balance problems. CONCLUSIONS: The risk factors identified provide useful epidemiologic information about dizziness and balance problems in children and will be used in tracking the Healthy People 2020 goal to increase utilization of healthcare services for these children.
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Tontura/epidemiologia , Equilíbrio Postural , Transtornos de Sensação/epidemiologia , Vertigem/epidemiologia , Adolescente , Peso ao Nascer , Criança , Pré-Escolar , Estudos Transversais , Coleta de Dados , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Feminino , Inquéritos Epidemiológicos , Humanos , Masculino , Prevalência , Análise de Regressão , Fatores de Risco , Classe Social , Resultado do Tratamento , Estados Unidos , CaminhadaRESUMO
The U.S. NHANES included chemosensory assessments in the 2011-2014 protocol. We provide an overview of this protocol and 2012 olfactory exam findings. Of the 1818 NHANES participants aged ≥40 years, 1281 (70.5 %) completed the exam; non-participation mostly was due to time constraints. Health technicians administered an 8-item, forced-choice, odor identification task scored as normosmic (6-8 odors identified correctly) versus olfactory dysfunction, including hyposmic (4-5 correct) and anosmic/severe hyposmic (0-3 correct). Interviewers recorded self-reported smell alterations (during past year, since age 25, phantosmia), histories of sinonasal problems, xerostomia, dental extractions, head or facial trauma, and chemosensory-related treatment and changes in quality of life. Olfactory dysfunction was found in 12.4 % (13.3 million adults; 55 % males/45 % females) including 3.2 % anosmic/severe hyposmic (3.4 million; 74 % males/26 % females). Selected age-specific prevalences were 4.2 % (40-49 years), 12.7 % (60-69 years), and 39.4 % (80+ years). Among adults ≥70 years, misidentification rates for warning odors were 20.3 % for smoke and 31.3 % for natural gas. The highest sensitivity (correctly identifying dysfunction) and specificity (correctly identifying normosmia) of self-reported olfactory alteration was among anosmics/severe hyposmics (54.4 % and 78.1 %, respectively). In age- and sex-adjusted logistic regression analysis, risk factors of olfactory dysfunction were racial/ethnic minority, income-to-poverty ratio ≤ 1.1, education Assuntos
Inquéritos Epidemiológicos/estatística & dados numéricos
, Inquéritos Nutricionais/estatística & dados numéricos
, Transtornos do Olfato/epidemiologia
, Adulto
, Idoso
, Idoso de 80 Anos ou mais
, Feminino
, Humanos
, Masculino
, Pessoa de Meia-Idade
, Transtornos do Olfato/fisiopatologia
, Estados Unidos/epidemiologia
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OBJECTIVE: We estimate the prevalence of hearing-aid use in Iceland and identify sex-specific factors associated with use. DESIGN: Population-based cohort study. STUDY SAMPLE: A total of 5172 age, gene/environment susceptibility - Reykjavik study (AGES-RS) participants, aged 67 to 96 years (mean age 76.5 years), who completed air-conduction and pure-tone audiometry. RESULTS: Hearing-aid use was reported by 23.0% of men and 15.9% of women in the cohort, although among participants with at least moderate hearing loss in the better ear (pure-tone average [PTA] of thresholds at 0.5, 1, 2, and 4 kHz ≥ 35 dB hearing level [HL]) it was 49.9% and did not differ by sex. Self-reported hearing loss was the strongest predictor of hearing-aid use in men [OR: 2.68 (95% CI: 1.77, 4.08)] and women [OR: 3.07 (95% CI: 1.94, 4.86)], followed by hearing loss severity based on audiometry. Having diabetes or osteoarthritis were significant positive predictors of use in men, whereas greater physical activity and unimpaired cognitive status were important in women. CONCLUSIONS: Hearing-aid use was comparable in Icelandic men and women with moderate or greater hearing loss. Self-recognition of hearing loss was the factor most predictive of hearing-aid use; other influential factors differed for men and women.
Assuntos
Correção de Deficiência Auditiva/instrumentação , Auxiliares de Audição/psicologia , Perda Auditiva/reabilitação , Idoso , Idoso de 80 Anos ou mais , Audiometria de Tons Puros/estatística & dados numéricos , Limiar Auditivo , Cognição , Estudos de Coortes , Correção de Deficiência Auditiva/psicologia , Diabetes Mellitus/epidemiologia , Autoavaliação Diagnóstica , Feminino , Audição/fisiologia , Humanos , Islândia/epidemiologia , Masculino , Atividade Motora , Osteoartrite/epidemiologia , Prevalência , Fatores de Risco , Fatores SexuaisRESUMO
OBJECTIVE: to examine the relationships between impairments in hearing and vision and mortality from all-causes and cardiovascular disease (CVD) among older people. DESIGN: population-based cohort study. PARTICIPANTS: the study population included 4,926 Icelandic individuals, aged ≥67 years, 43.4% male, who completed vision and hearing examinations between 2002 and 2006 in the Age, Gene/Environment Susceptibility-Reykjavik Study (AGES-RS) and were followed prospectively for mortality through 2009. METHODS: participants were classified as having 'moderate or greater' degree of impairment for vision only (VI), hearing only (HI), and both vision and hearing (dual sensory impairment, DSI). Cox proportional hazard regression, with age as the time scale, was used to calculate hazard ratios (HR) associated with impairment and mortality due to all-causes and specifically CVD after a median follow-up of 5.3 years. RESULTS: the prevalence of HI, VI and DSI were 25.4, 9.2 and 7.0%, respectively. After adjusting for age, significantly (P < 0.01) increased mortality from all causes, and CVD was observed for HI and DSI, especially among men. After further adjustment for established mortality risk factors, people with HI remained at higher risk for CVD mortality [HR: 1.70 (1.27-2.27)], whereas people with DSI remained at higher risk of all-cause mortality [HR: 1.43 (1.11-1.85)] and CVD mortality [HR: 1.78 (1.18-2.69)]. Mortality rates were significantly higher in men with HI and DSI and were elevated, although not significantly, among women with HI. CONCLUSIONS: older men with HI or DSI had a greater risk of dying from any cause and particularly cardiovascular causes within a median 5-year follow-up. Women with hearing impairment had a non-significantly elevated risk. Vision impairment alone was not associated with increased mortality.
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Transtornos da Audição/mortalidade , Audição , Pessoas com Deficiência Auditiva , Transtornos da Visão/mortalidade , Visão Ocular , Pessoas com Deficiência Visual , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Causas de Morte , Feminino , Transtornos da Audição/diagnóstico , Transtornos da Audição/fisiopatologia , Humanos , Islândia/epidemiologia , Estimativa de Kaplan-Meier , Masculino , Prevalência , Modelos de Riscos Proporcionais , Estudos Prospectivos , Fatores de Risco , Fatores Sexuais , Fatores de Tempo , Transtornos da Visão/diagnóstico , Transtornos da Visão/fisiopatologiaRESUMO
BACKGROUND: Multilocular thymic cyst (MTC) is a rare mediastinal lesion which is considered to occur in the process of acquired inflammation. It is usually characterized by well-defined cystic density and is filled with transparent liquid. CASE SUMMARY: We report on a 39-year-old male with a cystic-solid mass in the anterior mediastinum. Computer tomography (CT) imaging showed that the mass was irregular with unclear boundaries. After injection of contrast agent, there was a slight enhancement of stripes and nodules. According to CT findings, it was diagnosed as thymic cancer. CONCLUSION: After surgery, MTC accompanied by bleeding and infection was confirmed by pathological examination. The main lesson of this case was that malignant thymic tumor and MTC of the anterior mediastinum sometimes exhibit similar CT findings. Caution is necessary in clinical work to avoid misdiagnosis.
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The Early Childhood Longitudinal Study-Kindergarten Class of 2010-2011 (ECLS-K:2011) ascertained timing of ear infections within age specified intervals and parent's/caregiver's report of medically diagnosed hearing loss. In this nationally representative, school-based sample of children followed from kindergarten entry through fifth grade, academic performance in reading, mathematics, and science was assessed longitudinally. Prior investigations of this ECLS-K:2011 cohort showed that age has a non-linear, monotonically increasing functional relationship with academic performance. Because of this knowledge, a semiparametric partial linear model is proposed, in which the effect of age is modeled by an unknown monotonically increasing function along with other regression parameters. The parameters are estimated by a semiparametric maximum likelihood estimator. A test of a constant effect of age is also proposed. Simulation studies are conducted to evaluate the performance of the proposed method, as compared with the commonly used linear model; the former outperforms the latter based on several criteria. We then analyzed ECLS-K:2011 data to compare results of the partial linear parametric model estimation with that of classical linear regression models.
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Hearing loss is a major public problem with a heritability of up to 70%. Catechol-O-methyltransferase (COMT) encodes an enzyme that is highly expressed in sensory hair cells of the inner ear. The association between COMT and hearing loss has not been reported previously in nationally representative population-based studies. A regression linear model was used to estimate associations between the allele/genotype of COMT and self-reported hearing loss based on 13,403 individuals from Wave IV of the Add Health study, a nationally representative sample of multiethnic U.S. young adults. The inverse variance-weighted effect magnitude was estimated using a genetic meta-analysis model. The "A" allele frequency of rs6480 (a missense variant in COMT) was 0.44. The prevalence of hearing loss was 7.9% for individuals with the "A" allele and 6.5% for those with the "G" allele. The "A" allele was significantly associated with increased hearing loss (p = 0.01). The prevalence of hearing loss was 6.0%, 7.2%, and 8.7% for individuals with GG, AG, and AA genotypes, respectively, which was consistent with a genetic additive model. The genotypic association model showed that rs4680 was significantly associated with increased hearing loss (p = 0.006). A missense variant of rs4680 in COMT was significantly associated with increased hearing loss among young adults in a multi-racial/ethnic U.S. population-based cohort.
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Flotation is an attractive method for separating the different components of waste printed circuit boards (WPCBs) due to its cleanliness and efficiency. Non-metallic particles (NMPs) with good floatability usually need to be floated, however, it is difficult to achieve complete removal. The effect of particle size on the flotation behavior of NMPs, which is usually ignored in previous studies, is concerned in this paper. Flotation tests and kinetic analysis were carried out to reveal the effect of reagent dosage on flotation characteristics of particles in narrow size fractions. As the fineness decreases, the particles are more likely to be floated. Equally, the finer the particle size, the lower the reagent dosage required to achieve the maximum recovery. For 1-0.5 mm and -0.045 mm, the maximum recovery increased from 42.16% (1500 g/t MIBC) to 97.31% (100 g/t MIBC). Therefore, the feasibility of reducing particle size by grinding to improve floatability was verified. The results show that the reduction of particle size can significantly promote its efficiency of being floated. After grinding treatment, -0.045 mm yields in each size fraction (1-0.5, 0.5-0.25, 0.25-0.125, 0.125-0.074, 0.074-0.045 mm) increased by 22.10%, 28.42%, 30.90%, 64.56%, 89.32%, resulting in an increase of 37.71%, 13.12%, 2.82%, 7.82% and 2.00% in maximum recovery, respectively. It is also proved that the particle size, rather than the resin content, has a more significant effect on the floatability of NMPs.
Assuntos
Resíduo Eletrônico , Resíduo Eletrônico/análise , Cinética , Metais , Tamanho da Partícula , ReciclagemRESUMO
In geographic atrophy (GA), the non-neovascular end stage of age-related macular degeneration (AMD), the macular retinal pigment epithelium (RPE) progressively degenerates. Membrane cofactor protein (MCP, CD46) is the only membrane-bound regulator of complement expressed on the human RPE basolateral surface. Based on evidence of the role of complement in AMD, we hypothesized that altered CD46 expression on the RPE would be associated with GA development and/or progression. Here we report the timeline of CD46 protein expression changes across the GA transition zone, relative to control eyes, and relative to events in other chorioretinal layers. Eleven donor eyes (mean age 87.0 ± 4.1 yr) with GA and 5 control eyes (mean age 84.0 ± 8.9 yr) without GA were evaluated. Macular cryosections were stained with PASH for basal deposits, von Kossa for calcium, and for CD46 immunoreactivity. Internal controls for protein expression were provided by an independent basolateral protein, monocarboxylate transporter 3 (MCT3) and an apical protein, ezrin. Within zones defined by 8 different semi-quantitative grades of RPE morphology, we determined the location and intensity of immunoreactivity, outer segment length, and Bruch's membrane calcification. Differences between GA and control eyes and between milder and more severe RPE stages in GA eyes were assessed statistically. Increasing grades of RPE degeneration were associated with progressive loss of polarity and loss of intensity of staining of CD46, beginning with the stages that are considered normal aging (grades 0-1). Those GA stages with affected CD46 immunoreactivity exhibited basal laminar deposit, still-normal photoreceptors, and concomitant changes in control protein expression. Activated or anteriorly migrated RPE (grades 2-3) exhibited greatly diminished CD46. Changes in RPE CD46 expression thus occur early in GA, before there is evidence of morphological RPE change. At later stages of degeneration, CD46 alterations occur within a context of altered RPE polarity. These changes precede degeneration of the overlying retina and suggest that therapeutic interventions be targeted to the RPE.
Assuntos
Atrofia Geográfica/metabolismo , Proteína Cofatora de Membrana/metabolismo , Epitélio Pigmentado da Retina/metabolismo , Idoso , Idoso de 80 Anos ou mais , Feminino , Atrofia Geográfica/patologia , Humanos , Técnicas Imunoenzimáticas , Masculino , Transportadores de Ácidos Monocarboxílicos/metabolismo , Epitélio Pigmentado da Retina/patologia , Simportadores , Doadores de TecidosRESUMO
We identified associations between self-reported olfactory dysfunction (OD) and dietary attributes in participants aged ≥40 years (n = 6,356) from the nationally representative 2011-2014 National Health and Nutrition Examination Survey (NHANES). The chemosensory questionnaire and 24-h dietary recalls were administered by trained interviewers. OD was defined as self-report of either smell problems in the last year, worse smell relative to age 25, or perceiving phantom odors. Dietary outcomes included Healthy Eating Index 2015 score (HEI) with adequacy and moderation components (higher scores indicated higher diet quality), dietary diversity, energy density, and intake of major food groups. Survey-weighted linear regression models estimated OD-diet associations, adjusting for socio-demographic, lifestyle, and clinical factors. Adjusted mean difference (95% CI) between those with versus without OD, showed that adults with OD had significantly lower HEI moderation score (-0.67 (-1.22, -0.11)) and diets higher in energy density (0.06 (0.00, 0.11)), and percent energy from saturated fat (0.47 (0.12, 0.81)), total fat (0.96 (0.22, 1.70)), and added sugar (1.00 (0.33, 1.66)). Age and sex-stratified analyses showed that younger females (40-64 years) primarily accounted for the associations with diet quality and total/saturated fat intake. These findings inform dietary screening and recommendations for adults who report OD, including those experiencing transient or persistent smell loss with COVID-19.
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Dieta Saudável , Comportamento Alimentar , Transtornos do Olfato/epidemiologia , Adulto , Idoso , COVID-19/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , SARS-CoV-2 , AutorrelatoRESUMO
INTRODUCTION: The significant abnormalities of precuneus (PC), which are associated with brain dysfunction, have been identified in cirrhotic patients with covert hepatic encephalopathy (CHE). The present study aimed to apply radiomics analysis to identify the significant radiomic features in PC and their subregions, combine with clinical risk factors, then build and evaluate the classification models for CHE diagnosis. METHODS: 106 HBV-related cirrhotic patients (54 had current CHE and 52 had non-CHE) underwent the three-dimensional T1-weighted imaging. For each participant, PC and their subregions were segmented and extracted a large number of radiomic features and then identified the features with significant discriminative power as the radiomics signature. The logistic regression analysis was employed to develop and evaluate the classification models, which are constructed using the radiomics signature and clinical risk factors. RESULTS: The classification model (R-C model) achieved best diagnostic performance, which incorporated radiomics signature (4 radiomic features from right PC), venous blood ammonia, and the Child-Pugh stage. And the area under the receiver operating characteristic curve values (AUC), sensitivity, specificity, and accuracy values were 0.926, 1.000, 0.765, and 0.848, in the testing set. Application of the radiomics nomogram in the testing set still showed a good predictive accuracy. CONCLUSIONS: This study presented the radiomic features of the right PC, as a potential image marker of CHE. The radiomics nomogram that incorporates the radiomics signature and clinical risk factors may facilitate the individualized prediction of CHE.
Assuntos
Encefalopatia Hepática , Vírus da Hepatite B , Encefalopatia Hepática/diagnóstico por imagem , Encefalopatia Hepática/etiologia , Humanos , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico por imagem , Nomogramas , Curva ROC , Estudos RetrospectivosRESUMO
BACKGROUNDCisplatin is widely used to treat adult and pediatric cancers. It is the most ototoxic drug in clinical use, resulting in permanent hearing loss in approximately 50% of treated patients. There is a major need for therapies that prevent cisplatin-induced hearing loss. Studies in mice suggest that concurrent use of statins reduces cisplatin-induced hearing loss.METHODSWe examined hearing thresholds from 277 adults treated with cisplatin for head and neck cancer. Pretreatment and posttreatment audiograms were collected within 90 days of initiation and completion of cisplatin therapy. The primary outcome measure was a change in hearing as defined by the National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE).RESULTSAmong patients on concurrent atorvastatin, 9.7% experienced a CTCAE grade 2 or higher cisplatin-induced hearing loss compared with 29.4% in nonstatin users (P < 0.0001). A mixed-effect model analysis showed that atorvastatin use was significantly associated with reduced cisplatin-induced hearing loss (P ≤ 0.01). An adjusted odds ratio (OR) analysis indicated that an atorvastatin user is 53% less likely to acquire a cisplatin-induced hearing loss than a nonstatin user (OR = 0.47; 95% CI, 0.30-0.78). Three-year survival rates were not different between atorvastatin users and nonstatin users (P > 0.05).CONCLUSIONSOur data indicate that atorvastatin use is associated with reduced incidence and severity of cisplatin-induced hearing loss in adults being treated for head and neck cancer.TRIAL REGISTRATIONClinicalTrials.gov identifier NCT03225157.FUNDINGFunding was provided by the Division of Intramural Research at the National Institute on Deafness and Other Communication Disorders (1 ZIA DC000079, ZIA DC000090).
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Cisplatino/efeitos adversos , Neoplasias de Cabeça e Pescoço , Perda Auditiva , Ototoxicidade/epidemiologia , Idoso , Atorvastatina/administração & dosagem , Cisplatino/administração & dosagem , Feminino , Neoplasias de Cabeça e Pescoço/tratamento farmacológico , Neoplasias de Cabeça e Pescoço/epidemiologia , Perda Auditiva/induzido quimicamente , Perda Auditiva/epidemiologia , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos RetrospectivosRESUMO
BACKGROUND: Biomechanical studies have demonstrated that cortical bone trajectory (CBT) screw can provide a 30% increase in uniaxial yield pullout load than pedicle screw (PS). In addition, the insertion torque of CBT screw is 1.71 times higher than that of PS. A meta-analysis was conducted to evaluate clinical results between CBT screw technique and PS technique in lumbar fusion surgery. METHODS: An extensive search of literature was performed in PubMed, Embase, the Cochrane library. The following outcomes were extracted: visual analog scale (VAS), Oswestry disabilities index (ODI), Japanese Orthopaedic Association (JOA) score, complications, fusion rates, hospital stay, incision length, blood loss, and operation time. Data analysis was conducted with RevMan 5.3 and STATA 12.0. RESULTS: A total of 12 studies were included in the final analysis. The results indicated that CBT group with less blood loss [Pâ<â.01], less hospital stay [Pâ<â.01], and less incision length [Pâ<â.01] than PS group. There were no significant differences between 2 groups in other clinical parameters and outcomes. CONCLUSION: CBT technique provided similar clinical outcomes and fusion rates compared to PS technique in lumbar fusion surgery. However, CBT technique provided additional benefits of less blood loss, less hospital stay, and less incision length.
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Parafusos Ósseos , Degeneração do Disco Intervertebral/cirurgia , Vértebras Lombares , Fusão Vertebral/métodos , Fenômenos Biomecânicos , Humanos , Resultado do TratamentoRESUMO
X-linked adrenoleukodystrophy (X-ALD) is the most frequent type of inherited demyelinating peroxisomal disease caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1) gene. The rate of early recognition and genetic diagnosis of X-ALD remains low due to its variable clinical manifestations. The present study summarized the clinical features Chinese X-ALD patients and performed a follow-up study to further precisely characterize this disease. A total of 10 patients diagnosed with X-ALD between 1994 and 2016 at Shandong Provincial Hospital Affiliated to Shandong University (Jinan, China) were included in the present study. Through reviewing their medical records and performing telephone follow-ups, the clinical features, biochemical laboratory data, brain images, treatments and long-term outcomes were retrospectively summarized. Mutation analysis of the ABCD1 gene was performed in certain patients. Most of the patients (8/10) had the childhood cerebral form of X-ALD. One patient presented with the olivo-ponto-cerebellar form, the rarest form of X-ALD. In all patients, brain magnetic resonance images revealed abnormalities with typical T2-weighted hyperintensity. Analysis of very long chain fatty acid revealed high plasma levels of hexacosanoic acid in all patients. Increased adrenocorticotropic hormone, decreased cortisol and neurophysiological manifestations were also observed. Three different mutations of the ABCD1 gene were identified in the 3 patients subjected to genotyping. During the follow-ups, most patients took neurotrophic drugs and received hydrocortisone replacement when required. One patient received a hematopoietic stem cell transplantation, but died 1 year following the transplantation. Chronic myelopathy and peripheral neuropathy progressed with time, gradually leading to a vegetative state or paralysis within several years of clinical symptom onset. In conclusion, male patients with adrenocortical insufficiency should be further investigated for X-ALD. Early detection is critical to prevent the progression of X-ALD with mutation analysis of ABCD1 the most accurate method to confirm diagnosis.
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PURPOSE: Macular drusen are hallmarks of age-related maculopathy (ARM), but these focal extracellular lesions also appear with age in the peripheral retina. The present study was conducted to determine regional differences in morphology that contribute to the higher vulnerability of the macula to advanced disease. METHODS: Drusen from the macula (n = 133) and periphery (n = 282) were isolated and concentrated from nine ARM-affected eyes. A semiquantitative light microscopic evaluation of 1-mum-thick sections included 12 parameters. RESULTS: Significant differences were found between the macula and periphery in ease of isolation, distribution of druse type, composition qualities, and substructures. On harvesting, macular drusen were friable, with liquefied or crystallized contents. Peripheral drusen were resilient and never crystallized. On examination, soft drusen appeared in the macula only, had homogeneous content without significant substructures, and had abundant basal laminar deposits (BlamD). Several substructures, previously postulated as signatures of druse biogenesis, were found primarily in hard drusen. Specific to hard drusen, which appeared everywhere, were central subregions and reduced RPE coverage. Macular hard drusen with a rich substructure profile differed from primarily homogeneous peripheral hard drusen. Compound drusen, found in the periphery only, exhibited a composition profile that was not intermediate between hard and soft. CONCLUSIONS: The data confirm regional differences in druse morphology, composition, and physical properties, most likely based on different formative mechanisms that may contribute to macular susceptibility for ARM progression. Two other reasons that only the macula is at high risk despite having relatively few drusen are the exclusive presence of soft drusen and the abundant BlamD in this region.
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Macula Lutea/patologia , Degeneração Macular/diagnóstico , Drusas Retinianas/patologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Epitélio Pigmentado Ocular/patologia , Prevalência , Drusas Retinianas/classificação , Fatores de RiscoRESUMO
INTRODUCTION: Hearing loss is a worldwide societal and public health concern. Globally, disabling hearing loss affects 538 million adults (men, 12.2%; women, 9.8%). This study examined the prevalence and risk factors associated with deafness or serious difficulty hearing in two nationally representative surveys. METHODS: Data were analyzed in 2017 from the 2016 Behavioral Risk Factor Surveillance System (BRFSS) and the 2014 National Health Interview Survey. The BRFSS collected data through telephone interviews. The 2014 National Health Interview Survey collected face-to-face household interview data that included a hearing health supplement in the Sample Adult Core. Both surveys asked adults aged ≥18 years the disability question on deafness or serious difficulty hearing as defined by the American Community Survey. Weighted prevalence, prevalence ratios, and 95% CIs were calculated. Logistic regression was used to adjust for sociodemographic and geographic characteristics. RESULTS: Prevalence of deafness or serious difficulty hearing was 5.8% (BRFSS) and 6.0% (National Health Interview Survey); males had a 60% higher prevalence than females. The prevalence was significantly associated with increasing age, lower educational level and income, and was higher among non-Hispanic whites than among non-Hispanic blacks and Hispanics. Deafness or serious difficulty hearing was strongly associated with increasing degree of self-reported trouble hearing in the National Health Interview Survey. The BRFSS state-specific prevalence varied from 3.8% to 13.3%, with higher prevalence in the most public health-challenged states according to America's Health Rankings. CONCLUSIONS: The prevalence of deafness or serious difficulty hearing was approximately 6% in the National Health Interview Survey and BRFSS, but increased considerably for older, less advantaged individuals and in more public health-challenged states.
Assuntos
Pessoas com Deficiência/estatística & dados numéricos , Perda Auditiva/epidemiologia , Vigilância da População , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Sistema de Vigilância de Fator de Risco Comportamental , Pessoas com Deficiência/psicologia , Etnicidade/estatística & dados numéricos , Feminino , Perda Auditiva/etnologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Fatores Sexuais , Estados Unidos/epidemiologia , Adulto JovemRESUMO
In recent years, there has been increased awareness and prevention efforts toward reducing concussion incidence. Previous research has most often estimated the prevalence of concussions among youth using medical claims data (14). In the 2016 National Health Interview Survey (NHIS), parents or guardians answered questions about whether their children have ever had a significant head injury or concussion. This report presents estimates of parent-reported lifetime significant head injuries among children aged 317 years, providing information about head injuries beyond those that were medically attended.
Assuntos
Traumatismos Cranianos Fechados/epidemiologia , Traumatismos Cranianos Fechados/fisiopatologia , Pais , Adolescente , Criança , Pré-Escolar , Feminino , Traumatismos Cranianos Fechados/etnologia , Inquéritos Epidemiológicos , Humanos , Masculino , Estados Unidos/epidemiologiaRESUMO
OBJECTIVES/HYPOTHESIS: To study the prevalence and usefulness of audiometric notches in the diagnosis of noise-induced hearing loss (NIHL). STUDY DESIGN: Audiograms and data on noise exposure from 23,297 men and 26,477 women, aged 20 to 101 years, from the Nord-Trøndelag Hearing Loss Study, 1996-1998. METHODS: The prevalence of four types of audiometric notches (Coles, Hoffman, Wilson) and 4 kHz notch were computed in relation to occupational noise exposure, age, sex, and report of recurrent ear infections. RESULTS: The prevalence of notches in the 3 to 6 kHz range (Wilson, Hoffman, and Coles) ranged from 50% to 60% in subjects without occupational noise exposure, and 60% to 70% in the most occupationally noise-exposed men. The differences were statistically significant only for bilateral notches. For 4 kHz notches, the prevalence varied from 25% in occupationally nonexposed to 35% in the most occupationally exposed men, and the differences were statistically significant for both bilateral and unilateral notches. For women, the prevalence of notches was lower than in men, especially for 4 kHz notches, and the differences between occupationally noise exposed and nonexposed were smaller. Recreational exposure to high music was not associated with notched audiograms. CONCLUSIONS: The detection of bilateral notches and unilateral 4 kHz notches is of some value in diagnosing NIHL, especially in men. LEVEL OF EVIDENCE: 4 Laryngoscope, 127:1442-1450, 2017.