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1.
Clin Infect Dis ; 78(1): 172-178, 2024 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-37787072

RESUMO

BACKGROUND: Adults aged ≥65 years, adults with certain underlying medical conditions, and persons experiencing homelessness are at increased risk for invasive pneumococcal disease (IPD). Two new pneumococcal conjugate vaccines, 15-valent pneumococcal conjugate vaccine (PCV15) and 20-valent pneumococcal conjugate vaccine (PCV20), were recently approved for use in US adults. We describe the epidemiology of IPD among Alaska adults and estimate the proportion of IPD cases potentially preventable by new vaccines. METHODS: We used statewide, laboratory-based surveillance data to calculate and compare IPD incidence rates and 95% confidence intervals (CIs) among Alaska adults aged ≥18 years during 2011-2020 and estimate the proportion of IPD cases that were caused by serotypes in PCV15 and PCV20. RESULTS: During 2011-2020, 1164 IPD cases were reported among Alaska adults for an average annual incidence of 21.3 cases per 100 000 adults per year (95% CI, 20.1-22.5). Incidence increased significantly during the study period (P < .01). IPD incidence among Alaska Native adults was 4.7 times higher than among non-Alaska Native adults (95% CI, 4.2-5.2). Among adults experiencing homelessness in Anchorage, IPD incidence was 72 times higher than in the general adult population (95% CI, 59-89). Overall, 1032 (89%) Alaska adults with IPD had an indication for pneumococcal vaccine according to updated vaccination guidelines; 456 (39%) and 700 (60%) cases were caused by serotypes in PCV15 and PCV20, respectively. CONCLUSIONS: Use of PCV15 and PCV20 could substantially reduce IPD among adults in Alaska, including Alaska Native adults and adults experiencing homelessness.


Assuntos
Pessoas Mal Alojadas , Infecções Pneumocócicas , Adulto , Humanos , Lactente , Adolescente , Streptococcus pneumoniae , Vacinas Conjugadas , Alaska/epidemiologia , Infecções Pneumocócicas/epidemiologia , Infecções Pneumocócicas/prevenção & controle , Vacinas Pneumocócicas , Sorogrupo , Incidência
2.
Hepatology ; 76(4): 1180-1189, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35320592

RESUMO

BACKGROUND AND AIMS: The duration of protection from hepatitis B vaccination in children and adults is not known. In 1981, we used three doses of plasma-derived hepatitis B vaccine to immunize a cohort of 1578 Alaska Native adults and children from 15 Alaska communities who were ≥6 months old. APPROACH AND RESULTS: We tested persons for antibody to hepatitis B surface antigen (anti-HBs) levels 35 years after receiving the primary series. Those with levels <10 mIU/ml received one booster dose of recombinant hepatitis B vaccine 2-4 weeks later and were then evaluated on the basis of anti-HBs measurements 30 days postbooster. Among the 320 recruited, 112 persons had not participated in the 22- or 30-year follow-up study (group 1), and 208 persons had participated but were not given an HBV booster dose (group 2). Among the 112 persons in group 1 who responded to the original primary series, 53 (47.3%) had an anti-HBs level ≥10 mIU/ml. Among group 1, 73.7% (28 of 38) of persons available for a booster dose responded to it with an anti-HBs level ≥10 mIU/ml at 30 days. Initial anti-HBs level after the primary series was correlated with higher anti-HBs levels at 35 years. Among 8 persons who tested positive for antibody to hepatitis B core antigen, none tested positive for HBsAg or HBV DNA. CONCLUSIONS: Based on anti-HBs level ≥10 mIU/ml at 35 years and a 73.7% booster dose response, we estimate that 86% of participants had evidence of protection 35 years later. Booster doses are not needed in the general population at this time.


Assuntos
Vacinas contra Hepatite B , Hepatite B , Adulto , Criança , DNA Viral , Seguimentos , Anticorpos Anti-Hepatite B , Antígenos do Núcleo do Vírus da Hepatite B , Antígenos de Superfície da Hepatite B , Humanos , Imunização Secundária , Lactente
3.
Clin Infect Dis ; 75(1): e645-e652, 2022 08 24.
Artigo em Inglês | MEDLINE | ID: mdl-35092677

RESUMO

BACKGROUND: Vaccines against coronavirus disease 2019 (COVID-19) are highly efficacious, but severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections do occur after vaccination. We characterized COVID-19 cases among fully vaccinated persons with an outcome of death. METHODS: We analyzed COVID-19 cases voluntarily reported to the Centers for Disease Control and Prevention by US health departments from 1 January to 30 April 2021. We included cases among US residents with a positive SARS-CoV-2 test result ≥14 days after completion of an authorized primary vaccine series and who had a known outcome (alive or dead) as of 31 May 2021. When available, specimens were sequenced for viral lineage and death certificates were reviewed for cause(s) of death. RESULTS: Of 8084 fully vaccinated persons with reported COVID-19 during the surveillance period, 245 (3.0%) died. Compared with patients who remained alive, those who died were older (median age, 82 vs 57 years;), more likely to reside in a long-term care facility (51% vs 18%), and more likely to have ≥1 underlying health condition associated with risk for severe disease (64% vs 24%) (all P < .01). Among 245 deaths, 191 (78%) were classified as COVID-19 related. Of 106 deaths with available death certificates, COVID-19 was listed for 81 deaths (77%). There were no differences in the type of vaccine administered or the most common viral lineage (B.1.1.7). CONCLUSIONS: COVID-19 deaths are rare in fully vaccinated persons, occurring most commonly in those with risk factors for severe disease, including older age and underlying health conditions. All eligible persons should be fully vaccinated against COVID-19 and follow other prevention measures to mitigate exposure risk.


Assuntos
COVID-19 , Vacinas , Idoso de 80 Anos ou mais , COVID-19/prevenção & controle , Humanos , SARS-CoV-2 , Estados Unidos/epidemiologia , Vacinação
4.
BMC Infect Dis ; 22(1): 718, 2022 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-36050630

RESUMO

BACKGROUND: COVID-19 vaccines are an effective tool to prevent illness due to SARS-CoV-2 infection. However, infection after vaccination still occurs. We evaluated all infections identified among recipients of either the Pfizer-BioNTech or Moderna COVID-19 vaccine in five U.S. states during January-March 2021. METHODS: Using observational data reported to CDC, we compared the incidence of SARS-CoV-2 infection among vaccinated and unvaccinated persons, and the sex, age, and vaccine product received for individuals with vaccine breakthrough infections to those of the vaccinated population using Poisson regression models. We also compared the proportion of vaccine breakthrough cases due to a SARS-CoV-2 variant of concern to data reported to CDC's national genomic surveillance program. RESULTS: The age-adjusted incidence of reported SARS-CoV-2 infection was 97% lower among vaccinated as compared to unvaccinated persons aged ≥ 16 years (68 vs 2252 cases per 100,000 people). Vaccinated adults aged ≥ 85 years were 1.6 times (95% CI 1.3-1.9) as likely to become infected with SARS-CoV-2 than vaccinated adults aged < 65 years. Pfizer-BioNTech COVID-19 vaccine recipients were 1.4 times (95% CI 1.3-1.6) as likely to experience infection compared to Moderna COVID-19 recipients. The proportion of infections among vaccinated persons caused by SARS-CoV-2 variants of concern was similar to the proportion of circulating viruses identified as variants of concern in the five states during the same time. CONCLUSIONS: Vaccinated persons had a substantially lower incidence of SARS-CoV-2 infection compared to unvaccinated persons. Adults aged ≥ 85 years and Pfizer-BioNTech vaccine recipients had a higher risk of infection following vaccination. We provide an analytic framework for ongoing evaluation of patterns associated with SARS-CoV-2 infection among vaccinated persons using observational surveillance and immunization data. Our findings reinforce the effectiveness of COVID-19 vaccines in preventing infection in real-world settings.


Assuntos
COVID-19 , Vacinas Virais , Vacina de mRNA-1273 contra 2019-nCoV , Adulto , Vacina BNT162 , COVID-19/epidemiologia , COVID-19/prevenção & controle , Vacinas contra COVID-19 , Humanos , Programas de Imunização , Fatores de Risco , SARS-CoV-2 , Vacinação
5.
Int J Audiol ; 58(12): 834-850, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31264897

RESUMO

Objective: Universal newborn hearing screening (UNHS) uses otoacoustic emissions testing (OAE) and auditory brainstem response testing (ABR) to screen all newborn infants for hearing loss (HL), but may not identify infants with mild HL at birth or delayed onset HL. The purpose of this review is to examine the role of genetic screening to diagnose children with pre-lingual HL that is not detected at birth by determining the rate of children who pass UNHS but have a positive genetic screening. This includes a summary of the current UNHS and its limitations and a review of genetic mutations and screening technologies used to detect patients with an increased risk of undiagnosed pre-lingual HL.Design: Literature review of studies that compare UNHS with concurrent genetic screening.Study sample: Infants and children with HLResults: Sixteen studies were included encompassing 137,895 infants. Pathogenic mutations were detected in 8.66% of patients. In total, 545 patients passed the UNHS but had a positive genetic screening. The average percentage of patients who passed UNHS but had a positive genetic screening was 1.4%.Conclusions: This review demonstrates the positive impact of concurrent genetic screening with UNHS to identify patients with pre-lingual HL.


Assuntos
Testes Genéticos , Perda Auditiva/diagnóstico , Testes Auditivos , Triagem Neonatal , Humanos , Recém-Nascido
6.
Pediatr Infect Dis J ; 43(4): 390-392, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38241660

RESUMO

Otitis media-associated outpatient visits among American Indians/Alaska Natives children <5 years old decreased by 52% (100 to 48 per 100 children per year) from 2003 to 2019. Otitis media visits decreased by another 50% from 2019 to 2020, but rebounded between 2020 and 2021 back to a rate similar to 2019.


Assuntos
Nativos do Alasca , COVID-19 , Indígenas Norte-Americanos , Otite Média , Criança , Pré-Escolar , Humanos , Lactente , Indígena Americano ou Nativo do Alasca , COVID-19/epidemiologia , COVID-19/prevenção & controle , Otite Média/epidemiologia , Otite Média/prevenção & controle , Pandemias , Vacinas Pneumocócicas , Vacinas Conjugadas
7.
Lancet Reg Health Am ; 33: 100727, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38590324

RESUMO

Background: Evidence suggests an increased risk of new-onset diabetes following COVID-19 infection. American Indian/Alaska Native (AI/AN) people were disparately impacted by the COVID-19 pandemic and historically have had higher diabetes incidence than other racial/ethnic groups in the US. We measured the association between COVID-19 infection and incident diabetes in AI/AN people. Methods: We conducted a retrospective cohort study using de-identified patient data from the Indian Health Service's (IHS) National Patient Information Reporting System. We estimated age-adjusted diabetes incidence rates, incidence rate ratios, and adjusted hazard ratios among three cohorts spanning pre-pandemic (1/1/2018-2/28/2020) and pandemic (3/1/2020-12/31/2021) timeframes: 1) pre-pandemic cohort (1,503,085 individuals); 2) no-COVID-19 pandemic cohort (1,344,339 individuals); and 3) COVID-19 cohort (176,483 individuals). Findings: The COVID-19 cohort had an increased hazard of diabetes compared to the no-COVID-19 group (adjusted hazard ratio (aHR) = 1.56; 95% CI: 1.50-1.62) and the pre-pandemic group (aHR = 1.27; 95% CI: 1.22-1.32). The association between COVID-19 infection and new-onset diabetes was stronger in those with severe COVID-19 illness. A sensitivity analysis comparing the COVID-19 cohort to members of other cohorts that had acute upper respiratory infections showed an attenuated but higher risk of new-onset diabetes in those with COVID-19. Interpretation: AI/AN people diagnosed with COVID-19 had an elevated risk of a new diabetes diagnosis when compared to the no-COVID-19 group and the pre-pandemic group. The increased diabetes risk in the COVID-19 group remained in a sensitivity analysis that limited the comparator groups to individuals with an AURI diagnosis. Funding: US National Institute of Diabetes and Digestive and Kidney Diseases.

8.
Otolaryngol Clin North Am ; 56(6): 1169-1182, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37460373

RESUMO

The pediatric patient population has unique anatomic characteristics that bring challenges and increased risk to management. The purpose of this article is to guide the head and neck trauma surgeon in decision making for the treatment of pediatric head and neck trauma with an emphasis on facial fracture management.


Assuntos
Fraturas Cranianas , Humanos , Criança , Fraturas Cranianas/epidemiologia , Fraturas Cranianas/etiologia , Estudos Retrospectivos
9.
Int J Hyg Environ Health ; 240: 113915, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35051724

RESUMO

This paper presents estimates of the potential health-related economic benefits of providing universal access to in-home water and sanitation services to households in rural Alaska. In particular, we use data on disease incidence rates, health care costs, and local estimates of the impact of piped water on disease reduction to estimate the potential health-related economic benefits of providing universal access to piped water in the Yukon Kuskokwim (Y.K.) Delta region of Alaska. We include estimates of avoided treatment and diagnosis costs as well as private benefits associated with reduced morbidity and mortality associated with improved access to in-home piped water. To our knowledge, these are the first estimates of the economic benefits of improved access to water and sanitation in rural Alaska and the Arctic. Our analysis suggests increased access to in-home piped water in the region may yield substantial reductions in direct medical expenses incurred by public agencies and families, as well as reductions in time and travel costs associated with improved health outcomes. These benefits, along with the array of health and non-health-related benefits not included in our analysis, may provide new impetus to expanding access to high-quality water and sanitation services in the region.


Assuntos
Saneamento , Abastecimento de Água , Alaska/epidemiologia , Humanos , Água , Yukon
10.
Pediatr Infect Dis J ; 41(4): e120-e125, 2022 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-35067639

RESUMO

BACKGROUND: In 2019, 5 cases of invasive Haemophilus influenzae serotype b (Hib) occurred in the Anchorage region of Alaska over a period of 16 days. No cases had occurred in Alaska in the preceding 26 months. METHODS: Alaska Hib isolates from 2005 through 2019 were analyzed using whole-genome sequencing (WGS). Rates were compared with the CDC's Active Bacterial Core surveillance (ABCs) data. RESULTS: A total of 33 cases of invasive Hib occurred in Alaska from 2005 through 2019. Of the 5 cases associated with the cluster, 2 (40%) occurred in adults and all occurred in the Anchorage region. In contrast, only 14% (4/28) of the noncluster cases occurred in this region (P < 0.01). Two cluster cases were linked epidemiologically and the bacteria were nearly identical. The other 3 cluster cases were caused by 3 genetically distinct bacteria. When the full period was evaluated, the unadjusted rate of invasive Hib disease in Alaska was 15.5 times higher in Alaska Native (AN) people than non-AN people [1.3/100,000 vs. 0.07/100,000, 95% confidence intervals (CI): 10.2-22.5). The age-adjusted rate of invasive Hib disease in Alaska was 9.4 times higher than the ABCs rate (95% CI: 6.3-14.1). CONCLUSIONS: While clustered in time and space, the 5 cases in 2019 were not due to a single bacterial strain. AN people continue to have elevated rates of invasive Hib infection compared with both non-AN people in Alaska and the ABCs population.


Assuntos
Infecções por Haemophilus , Vacinas Anti-Haemophilus , Haemophilus influenzae tipo b , Adulto , Alaska/epidemiologia , Infecções por Haemophilus/epidemiologia , Infecções por Haemophilus/microbiologia , Haemophilus influenzae , Humanos , Lactente , Sorogrupo
11.
Can J Gastroenterol Hepatol ; 2022: 2573545, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35178364

RESUMO

BACKGROUND: Hepatitis C virus (HCV) infection incidence rates in the United States have increased since 2010 as a byproduct of the opioid crisis despite the introduction of direct-acting antiviral agents in 2013. HCV infection is associated with higher rates of liver-related and nonhepatic causes of death. METHODS: This study compared demographic characteristics and age-adjusted death rates from 1995 to 2016 among Alaska Native (AN) adults infected with HCV (AK-HepC) to rates among the AN and non-AN adult populations living in Alaska. Liver-related disease (LRD) and other disease-specific age-adjusted death rates were compared between the populations. RESULTS: The all-cause death rate among the AK-HepC cohort was 2.2- and 3.4-fold higher than AN and non-AN adults, respectively, and remained stable over time in all populations. The LRD death rate among the AK-HepC cohort was 18- and 11-fold higher than the non-AN and AN, respectively. The liver cancer rate among the AK-HepC cohort was 26-fold higher compared to the Alaska statewide population. The AK-HepC cohort had elevated rates of death associated with nonhepatic diseases with circulatory disease having the highest rate in all populations. Among liver cancer deaths in the AK-HepC cohort, 32% had HCV listed as a contributing cause of death on the death certificate. CONCLUSIONS: Death rates in the AK-HepC cohort remained stable since 1995 and higher compared to the general population. People with HCV infection had an elevated risk for all-cause, liver-related, and nonhepatic causes of death. Hepatitis C infection may be underrepresented as a cause of mortality in the United States.


Assuntos
Hepatite C Crônica , Hepatite C , Neoplasias Hepáticas , Adulto , Alaska/epidemiologia , Antivirais/uso terapêutico , Hepacivirus , Hepatite C/complicações , Humanos , Neoplasias Hepáticas/tratamento farmacológico , Estados Unidos
12.
Laryngoscope Investig Otolaryngol ; 7(4): 1065-1070, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36000063

RESUMO

Objective: Build a microlaryngoscopy surgical simulator for endoscopic laryngeal surgery using standard microsurgical instruments and a CO2 laser. Study design: Anatomical modeling, CAD design and 3D printed manufacturing. Subjects and methods: We created a modular design for a microlaryngoscopy simulator in CAD software. Components include plastic and stainless-steel models of a standard operating laryngoscope and a cassette system for mounting porcine or synthetic models of the vocal folds. All simulator parts, including the metallic laryngoscope model, were manufactured using 3D printing technology. Tumors were simulated in porcine tissue models by injecting a soy protein-based tumor phantom. Residents and faculty in the Louisiana State University otolaryngology department evaluated the system. Each participant performed microlaryngoscopy with laser resection on a porcine larynx and cold instrument procedures on synthetic vocal folds. Participants scored the simulator using a 5-point Likert scale. Results: The microlaryngeal surgical simulator demonstrated in this project is realistic, economical, and easily assembled. We have included 3D printed parts files and detailed assembly instructions that will enable educators interested in surgical simulation to build the device.Participants in the simulator evaluation session felt that the simulator faithfully represented the procedure to resect vocal fold lesions using a CO2 laser. The synthetic model allows the trainee to develop hand-eye coordination while using standard laryngeal instruments. Conclusions: The simulator described herein will enable surgeons to acquire the surgical skills necessary to perform operative microlaryngoscopy prior to operating on live patients.

13.
Int J Infect Dis ; 111: 130-137, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34419583

RESUMO

OBJECTIVES: This study describes the changes in lower respiratory tract infection (LRTI) rates from 1998 to 2014 among hospitalized American Indian/Alaska Native (AI/AN) adults residing in Alaska and other Indian Health Service (IHS) regions. METHODS: Age-adjusted hospital discharge rates and rate ratios were calculated from the IHS Direct and Contract Health Services Inpatient Dataset, IHS National Patient Information Reporting System for AI/AN adults ≥18 years, hospitalized at an IHS-operated, tribally operated, or contract hospital with an LRTI-associated diagnosis during 1998-2014. RESULTS: Overall, there were 13 733 LRTI-associated hospitalizations in Alaska (1998-2014), with an age-adjusted rate of 13.7/1000 adults. Among non-Alaska (non-AK) AI/AN, there were a total of 79 170 hospitalizations, with a rate of 8.6/1000 adults. In the pre-PCV7 and pre-PCV13 periods, LRTI rates were higher in Alaska (AK) AI/AN (12.4 and 14.1, respectively) when compared to non-AK AI/AN (10.1 and 9.1, respectively) (P < 0.0001). In the post-PCV7 and post-PCV13 periods, LRTI rates were also higher in AK (13.5 and 15.0, respectively) compared to non-AK (9.2 and 7.3, respectively) (P < 0.0001). CONCLUSIONS: Over the study period, a 26% increase in rates of LRTI among adult AI/AN residing in AK compared with a 38% decrease in rates among AI/AN residing in non-AK were observed. This disparity is likely due to a variety of factors such as tobacco use, crowding, etc. Strategies to reduce LRTI in AI/AN adults are needed.


Assuntos
Indígenas Norte-Americanos , Infecções Respiratórias , Adolescente , Adulto , Alaska/epidemiologia , Hospitalização , Humanos , Infecções Respiratórias/epidemiologia , Estados Unidos/epidemiologia , United States Indian Health Service , Indígena Americano ou Nativo do Alasca
14.
Clin Transl Gastroenterol ; 12(7): e00374, 2021 06 23.
Artigo em Inglês | MEDLINE | ID: mdl-34158461

RESUMO

INTRODUCTION: Alaska Native (AN) people experience a high burden of gastric cancer compared with other US Native and non-Native populations. Previous reports have suggested that gastric cancer in AN people occurs at a younger age and is a more aggressive pathologic type. We evaluated all cases of gastric cancer in AN people from 1990 to 2017 and compared the epidemiologic and pathologic characteristics with the gastric cancers that occurred in the same time in the US white (USW) population. METHODS: Cancer data were collected by the Alaska Native Tumor Registry and National Cancer Institute's Surveillance, Epidemiology, and End Results Program. Comparisons were performed looking at the age and sex distribution of the affected AN and USW people, as well as the cancer characteristics, including the location, stage, and pathology. RESULTS: The age distribution was significantly different between AN and USW patients (P < 0.001), with a greater proportion of AN people diagnosed younger than 40 years (11% vs 3%, P < 0.0001) and 40-59 years (37% vs 20%, P < 0.0001). In addition, a greater proportion of AN people were diagnosed with distant stage cancer (AN: 48% and USW: 35%, P < 0.0001). The age-adjusted rate of gastric cancer in the AN population was significantly higher than the USW population (20.8 vs 6.7 per 100,000 persons, P < 0.0001). Although there has been a significant decrease in the gastric cancer incidence rate in the USW population, no significant change in incidence was seen in the AN population. DISCUSSION: This study highlights the disproportionate burden of gastric cancer in the AN population. Further work is needed to address and understand this disparity.


Assuntos
/estatística & dados numéricos , Indígena Americano ou Nativo do Alasca/estatística & dados numéricos , Neoplasias Gástricas/etnologia , Neoplasias Gástricas/epidemiologia , Adulto , Distribuição por Idade , Idade de Início , Alaska/epidemiologia , Efeitos Psicossociais da Doença , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Distribuição por Sexo , Neoplasias Gástricas/patologia
15.
Int J Pediatr Otorhinolaryngol ; 104: 47-50, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29287879

RESUMO

OBJECTIVE: X-linked nonsyndromic hearing impairment is the rarest form of genetic hearing loss and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked nonsyndromic sensorineural hearing loss in a three-generation American family. METHODS: Whole-exome sequencing and co-segregation analysis were used to identify disease-causing genes. RESULTS: In this study, we described in detail the clinical characteristics of the family and identified a novel frameshift mutation creating a premature stop codon (c.133-1 G > A, p.(Gly45fs*36)) of SMPX. The loss-of-function mutation was co-segregated with the progressive hearing loss phenotype and was absent in 200 normal controls. CONCLUSIONS: We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss.


Assuntos
Surdez/genética , Doenças Genéticas Ligadas ao Cromossomo X/genética , Perda Auditiva Neurossensorial/genética , Proteínas Musculares/genética , Adolescente , Adulto , Idoso , Criança , Códon sem Sentido , Feminino , Mutação da Fase de Leitura , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Splicing de RNA , Adulto Jovem
16.
J Genet Genomics ; 45(2): 99-109, 2018 02 20.
Artigo em Inglês | MEDLINE | ID: mdl-29500086

RESUMO

Precision medicine (PM) proposes customized medical care based on a patient's unique genome, biomarkers, environment and behaviors. Hearing loss (HL) is the most common sensorineural disorder worldwide and is frequently caused by a single genetic mutation. With recent advances in PM tools such as genetic sequencing and data analysis, the field of HL is ideally positioned to adopt the strategies of PM. Here, we review current and future applications of PM in HL as they relate to the four core qualities of PM (P4): predictive, personalized, patient-centered, and participatory. We then introduce a strategy for effective incorporation of HL PM into the design of future research studies, electronic medical records, and clinical practice to improve diagnostics, prognostics, and, ultimately, individualized patient treatment. Finally, specific anticipated ethical and economic concerns in this growing era of genomics-based HL treatment are discussed. By integrating PM principles into translational HL research and clinical practice, hearing specialists are uniquely positioned to effectively treat the heterogeneous causes and manifestations of HL on an individualized basis.


Assuntos
Genômica , Perda Auditiva/genética , Medicina de Precisão/tendências , Perda Auditiva/patologia , Perda Auditiva/terapia , Humanos , Mutação , Pesquisa Translacional Biomédica
17.
J Genet Genomics ; 44(6): 285-294, 2017 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-28642064

RESUMO

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein ß 2) and GJB6 (gap-junction protein ß 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.


Assuntos
População Negra/genética , Surdez/genética , População Negra/etnologia , Surdez/epidemiologia , Surdez/etnologia , Meio Ambiente , Humanos
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