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STUDY OBJECTIVES: Since 2019, the FDA has cleared nine novel obstructive sleep apnea (OSA)-detecting wearables for home sleep apnea testing, with many now commercially available for sleep clinicians to integrate into their clinical practices. To help clinicians comprehend these devices and their functionalities, we meticulously reviewed their operating mechanisms, sensors, algorithms, data output, and related performance evaluation literature. METHODS: We collected information from PubMed, FDA clearance documents, ClinicalTrial.gov, and web sources, with direct industry input whenever feasible. RESULTS: In this "device-centered" review, we broadly categorized these wearables into two main groups: those that primarily harness Photoplethysmography (PPG) data and those that do not. The former include the peripheral arterial tonometry (PAT)-based devices. The latter was further broken down into two key subgroups: acoustic-based and respiratory effort-based devices. We provided a performance evaluation literature review and objectively compared device-derived metrics and specifications pertinent to sleep clinicians. Detailed demographics of study populations, exclusion criteria, and pivotal statistical analyses of the key validation studies are summarized. CONCLUSIONS: In the foreseeable future, these novel OSA-detecting wearables may emerge as primary diagnostic tools for patients at risk for moderate-to-severe OSA without significant comorbidities. While more devices are anticipated to join this category, there remains a critical need for cross-device comparison studies as well as independent performance evaluation and outcome research in diverse populations. Now is the moment for sleep clinicians to immerse themselves in understanding these emerging tools to ensure our patient-centered care is improved through the appropriate implementation and utilization of these novel sleep technologies.
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STUDY OBJECTIVE: The objective of this study was to assess the accuracy of automatic diagnosis of obstructive sleep apnea (OSA) with a new, small, acoustic-based, wearable technology (AcuPebble SA100), by comparing it with standard type 1 polysomnography (PSG) diagnosis. MATERIAL AND METHODS: This observational, prospective study was carried out in a Spanish hospital sleep apnea center. Consecutive subjects who had been referred to the hospital following primary care suspicion of OSA were recruited and underwent in-laboratory attended PSG, together with the AcuPebble SA100 device simultaneously overnight from January to December 2022. RESULTS: A total of 80 patients were recruited for the trial. The patients had a median Epworth scoring of 10, a mean of 10.4, and a range of 0-24. The mean AHI obtained with PSG plus sleep clinician marking was 23.2, median 14.3 and range 0-108. The study demonstrated a diagnostic accuracy (based on AHI) of 95.24%, sensitivity of 92.86%, specificity of 97.14%, positive predictive value of 96.30%, negative predictive value of 94.44%, positive likelihood ratio of 32.50 and negative likelihood ratio of 0.07. CONCLUSIONS: The AcuPebble SA100 (EU) device has demonstrated an accurate automated diagnosis of OSA in patients undergoing in-clinic sleep testing when compared against the gold-standard reference of in-clinic PSG.
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BACKGROUND: Polysomnography (PSG) is the gold standard for the diagnosis of obstructive sleep apnoea (OSA). Home sleep apnoea testing with peripheral arterial tonometry (PAT) is a recommended diagnostic alternative for patients with an increased risk for OSA. In a large clinical cohort, we investigated concordance and predictors for discordance in diagnosing OSA using PAT and PSG, and three-year cardiovascular risk in patients with discordant OSA diagnosis. METHODS: Retrospective monocentric cohort study. Patients with a PAT AHI ≥ 5/h followed by an in-hospital PSG within three months were included. All patients with a PAT AHI ≥ 5/h but a PSG AHI < 5/h were classified as discordant. Patients with PAT and PSG AHI ≥ 5/h were classified as concordant. To ascertain cardiovascular risk, major adverse cardiovascular events (MACE) were analyzed in discordant patients and sex, age, body mass index (BMI) and cardiovascular disease-matched concordant patients over a follow-up time of 3.1 ± 0.06 years. RESULTS: A total of 940 patients, 66% male with an average age of 55 ± 0.4 years and BMI of 31 ± 0.2 kg/m2 were included. Agreement in OSA diagnosis was observed in 80% of patients (55% in mild and 86% in moderate and severe OSA). Factors significantly associated with a discordant diagnosis were female sex, younger age and lower BMI, but not comorbidities. There was no significant difference in MACE (p = 0.920) between discordant patients (n = 155) and matched concordant patients (n = 274) with or without therapy. CONCLUSIONS: Concordance between PAT and PSG diagnosis of sleep apnoea is good, particularly in moderate and severe OSA. Predictors for discordant results between PAT and PSG were age, sex and BMI. MACE risk is similar in those with OSA diagnosed by PAT or PSG.
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Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Humanos , Feminino , Masculino , Pessoa de Meia-Idade , Polissonografia , Estudos de Coortes , Estudos Retrospectivos , Apneia Obstrutiva do Sono/diagnósticoRESUMO
BACKGROUND: Pericentromeric regions of human chromosomes are composed of tandem-repeated and highly organized sequences named satellite DNAs. Human classical satellite DNAs are classified into three families named HSat1, HSat2, and HSat3, which have historically posed a challenge for the assembly of the human reference genome where they are misrepresented due to their repetitive nature. Although being known for a long time as the most AT-rich fraction of the human genome, classical satellite HSat1A has been disregarded in genomic and transcriptional studies, falling behind other human satellites in terms of functional knowledge. Here, we aim to characterize and provide an understanding on the biological relevance of HSat1A. RESULTS: The path followed herein trails with HSat1A isolation and cloning, followed by in silico analysis. Monomer copy number and expression data was obtained in a wide variety of human cell lines, with greatly varying profiles in tumoral/non-tumoral samples. HSat1A was mapped in human chromosomes and applied in in situ transcriptional assays. Additionally, it was possible to observe the nuclear organization of HSat1A transcripts and further characterize them by 3' RACE-Seq. Size-varying polyadenylated HSat1A transcripts were detected, which possibly accounts for the intricate regulation of alternative polyadenylation. CONCLUSION: As far as we know, this work pioneers HSat1A transcription studies. With the emergence of new human genome assemblies, acrocentric pericentromeres are becoming relevant characters in disease and other biological contexts. HSat1A sequences and associated noncoding RNAs will most certainly prove significant in the future of HSat research.
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DNA Satélite , Sequências de Repetição em Tandem , Humanos , DNA Satélite/genética , RNA não Traduzido , Genômica , Genoma HumanoRESUMO
OBJECTIVES: Despite the growing use of home sleep testing for obstructive sleep apnea (OSA), there are significant barriers that make it difficult for patients. This study aimed to evaluate a new set of wireless patches for the detection of OSA as compared to polysomnography (PSG) respiratory signals. Safety was also evaluated. METHODS: Patients (n = 25; mean age = 51.3; SD = 15.6) undergoing standard PSG evaluation for OSA wore 2 device patches applied on the chest and abdomen to provide surrogates of respiratory effort and derived airflow. Two sets of respiratory data (with common SpO2 and heart rate as a reference from PSG) were created, one from PSG and one from the device patches. Data were scored by a Registered Polysomnographic Technologist. Linear regression analyses and Bland-Altman plots were used to compare the two derived apnea-hypopnea indices (AHI). Bench testing was performed to determine whether the device patch respiratory signal accuracy remained consistent for different body characteristics. RESULTS: There was a significant correlation for AHI between the device patch and PSG (r = 0.979; P < .001; 95% CI 0.952, 1.00). There were also significant correlations between PSG and the device patch for supine AHI (r = 0.866, P < .001, 95% CI 0.610, 0.965) and nonsupine AHI (r = 0.983; <0.001, 95% CI 0.954, 1.00). No differences in respiratory signal accuracy were found with bench testing comparison groups. CONCLUSIONS: These preliminary results suggest that the device patch may be an effective way to measure respiratory dynamics, including derived airflow, to evaluate OSA. Results show promise as a new innovative method for home sleep testing.
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Apneia Obstrutiva do Sono , Sono , Humanos , Pessoa de Meia-Idade , Polissonografia/métodos , Apneia Obstrutiva do Sono/diagnóstico , AbdomeRESUMO
Background: Undiagnosed obstructive sleep apnea (OSA) is prevalent in neurological practice and significantly contributes to morbidity and mortality. OSA is prevalent in US adults and causes poor quality sleep and significant neurocognitive, cardiovascular, and cerebrovascular impairments. Timely treatment of OSA reduces cardio-cerebrovascular risks and improves quality of life. However, most of the US population has limited systematic access to sleep medicine care despite its clinical significance. Focus: We discuss the importance of systematic screening, testing, and best-practice management of OSA and hypoventilation/hypoxemia syndromes (HHS) in patients with stroke, neurocognitive impairment, and neuromuscular conditions. This review aims to introduce and describe a novel integrated Mobile Sleep Medicine (iMSM) care model and provide the rationale for using an iMSM in general neurological practice to assist with systematic screening, testing and best-practice management of OSA, HHS, and potentially other sleep conditions. Key points: The iMSM is an innovative, patient-centered, clinical outcome-based program that uses a Mobile Sleep Medicine Unit-a "sleep lab on wheels"-designed to improve access to OSA management and sleep care at all levels of health care system. The protocol for the iMSM care model includes three levels of operations to provide effective and efficient OSA screening, timely testing/treatment plans, and coordination of further sleep medicine care follow-up. The iMSM care model prioritizes effective, efficient, and patient-centered sleep medicine care; therefore, all parties and segments of care that receive and provide clinical sleep medicine services may benefit from adopting this innovative approach.
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OBJECTIVE: In 2010, a questionnaire-based study on obstructive sleep apnea (OSA) management in Europe identified differences regarding reimbursement, sleep specialist qualification, and titration procedures. Now, 10 years later, a follow-up study was conducted as part of the ESADA (European Sleep Apnea Database) network to explore the development of OSA management over time. METHODS: The 2010 questionnaire including questions on sleep diagnostic, reimbursement, treatment, and certification was updated with questions on telemedicine and distributed to European Sleep Centers to reflect European OSA management practice. RESULTS: 26 countries (36 sleep centers) participated, representing 20 ESADA and 6 non-ESADA countries. All 21 countries from the 2010 survey participated. In 2010, OSA diagnostic procedures were performed mainly by specialized physicians (86%), whereas now mainly by certified sleep specialists and specialized physicians (69%). Treatment and titration procedures are currently quite homogenous, with a strong trend towards more Autotitrating Positive Airway Pressure treatment (in hospital 73%, at home 62%). From 2010 to 2020, home sleep apnea testing use increased (76%-89%) and polysomnography as sole diagnostic procedure decreased (24%-12%). Availability of a sleep specialist qualification increased (52%-65%) as well as the number of certified polysomnography scorers (certified physicians: 36%-79%; certified technicians: 20%-62%). Telemedicine, not surveyed in 2010, is now in 2020 used in diagnostics (8%), treatment (50%), and follow-up (73%). CONCLUSION: In the past decade, formal qualification of sleep center personnel increased, OSA diagnostic and treatment procedures shifted towards a more automatic approach, and telemedicine became more prominent.
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Síndromes da Apneia do Sono , Apneia Obstrutiva do Sono , Europa (Continente)/epidemiologia , Seguimentos , Humanos , Polissonografia/métodos , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/terapiaRESUMO
The classical human satellite DNAs, also referred to as human satellites 1, 2 and 3 (HSat1, HSat2, HSat3, or collectively HSat1-3), occur on most human chromosomes as large, pericentromeric tandem repeat arrays, which together constitute roughly 3% of the human genome (100 megabases, on average). Even though HSat1-3 were among the first human DNA sequences to be isolated and characterized at the dawn of molecular biology, they have remained almost entirely missing from the human genome reference assembly for 20 years, hindering studies of their sequence, regulation, and potential structural roles in the nucleus. Recently, the Telomere-to-Telomere Consortium produced the first truly complete assembly of a human genome, paving the way for new studies of HSat1-3 with modern genomic tools. This review provides an account of the history and current understanding of HSat1-3, with a view towards future studies of their evolution and roles in health and disease.
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DNA Satélite , Genômica , DNA Satélite/genética , Genoma Humano/genética , HumanosRESUMO
Objective: To determine whether continuous positive airway pressure (CPAP) adherence reduces health care-related costs or use in patients with obstructive sleep apnea (OSA) and comorbid cardiovascular disease (CVD). Patients: A total of 23 million patients with CVD were identified in the Medicare fee-for-service database. Of the 65,198 who completed a sleep study between January 2016 and September 2018, 55,125 were diagnosed as having OSA and 1758 were identified in the 5% Medicare durable medical equipment (DME) database. Methods: Patients with DME claims were categorized as adherent (AD, treatment evidenced ≥91 days after CPAP initiation; n=614) or nonadherent (nAD, n=242) to CPAP therapy. In addition, 9881 individuals with CVD who were not diagnosed as having OSA after sleep testing and without CPAP initiation were included as control patients. Propensity score matching balanced the groups for age, sex, and comorbidities (eg, diabetes mellitus), resulting in 241 participants per cohort. Dependent variables included total episode-of-care, inpatient, outpatient, skilled nursing, home health, and DME costs across 12 months. Results: Total episode-of-care costs of AD participants ($6825) were lower than those of nAD ($11,312; P<.05) and control ($8102) participants. This difference (Δ) was attributable to fewer outpatient expenses (Δ$2290; P<.05) relative to the nAD group and fewer inpatient expenses (Δ$745) relative to the control group because skilled nursing costs were comparable between groups (P=.73). Conclusion: Adherence to CPAP treatment reduces annual health care-related expenses by 40% in Medicare patients with CVD and OSA.
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STUDY OBJECTIVES: (1) To determine the sensitivity and specificity of the home sleep apnea test (HSAT) performed in typically developing children who were diagnosed with moderate to severe obstructive sleep apnea during overnight attended laboratory polysomnography (LPSG). (2) To determine the utility of a screening questionnaire to identify children at increased risk for obstructive sleep apnea. METHODS: Participants completed 2 consecutive study nights, the first night with the HSAT followed by LPSG on the second night. The SHOOTS questionnaire, composed of 6 questions (snoring, hyperactivity, obesity, observed apnea, tonsillar hypertrophy, and sleepiness) concerning sleep-disordered breathing, was administered by the clinician before the first study night. RESULTS: Thirty-eight participants completed both studies. The mean age was 13.8 ± 3.0 years. Twenty (53%) were male. Most participants were obese. The mean LPSG total sleep time was 7.34 ± 1.19 hours; the mean HSAT total recording time was 8.86 ± 1.73 hours (P < .001). The median obstructive apnea-hypopnea index for LPSG and HSAT was 6.6 and 0.8 events/h, respectively. For an obstructive apnea-hypopnea index ≥ 3.1 events/h by HSAT, the sensitivity was 71.43% (95% confidence interval, 41.9-91.6) and the specificity was 95.83% (95% confidence interval, 78.9-99.9) for identifying those with an LPSG obstructive apnea-hypopnea index of ≥ 10 events/h. For a SHOOTS score with ≥ 4 "yes" responses, the sensitivity and specificity were 85.7% (95% confidence interval, 57.2-98.2) and 54.2% (95% confidence interval, 32.8-74.4), respectively, for identifying those with an LPSG obstructive apnea-hypopnea index ≥ 10 events/h. CONCLUSIONS: Using HSAT, we clinically applied cutoff values to identify moderate to severe obstructive sleep apnea in typically developing children. The SHOOTS questionnaire may aid in identifying children at risk for obstructive sleep apnea and who are candidates for HSAT. CITATION: Revana A, Vecchio J, Guffey D, Minard CG, Glaze DG. Clinical application of home sleep apnea testing in children: a prospective pilot study. J Clin Sleep Med. 2022;18(2):533-540.
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Síndromes da Apneia do Sono , Adolescente , Criança , Humanos , Masculino , Projetos Piloto , Polissonografia , Estudos Prospectivos , Sono , Síndromes da Apneia do Sono/diagnósticoRESUMO
BACKGROUND: Portable monitoring devices have been developed for in-home screening and to aid in the diagnosis of sleep disordered breathing (SDB) while increasing accessibility and reducing costs. Although there are many different devices available in the market, most have not undergone rigorous validation. Therefore, although such devices are promising, more research on their clinical utility is necessary. The purpose of this study was to assess the clinical utility of a type 4 home sleep apnea test (HSAT) as an in-home screening for SDB. METHODS: We investigated consecutive subjects who underwent in-laboratory overnight polysomnography following in-home screening using HSAT. We evaluated the correlation between apnea-hypopnea index (AHI) by in-laboratory overnight polysomnography and by HSAT and evaluated the sensitivity and specificity for AHI ≥5 and AHI ≥30 by the receiver operating characteristic (ROC) analysis. RESULTS: Finally, data of 387 participants (86.8% men, mean age 55.3±13.3 years and body mass index 25.1±4.1 kg/m2) were assessed. In all patients, AHI by HSAT correlated significantly with AHI by polysomnography (r=0.670, P<0.001). The area under curves of ROC for AHI ≥5 and AHI ≥30 were 0.854±0.029 and 0.841±0.022, respectively. The best cut-off of AHI by HSAT for detecting AHI by polysomnography ≥5 was 10.3 events/h (sensitivity, 82.8%; and specificity, 76.0%), and AHI by HSAT for detecting AHI by polysomnography ≥30 was 24.5 events/h (sensitivity, 75.8%; and specificity, 80.4%). CONCLUSIONS: This type 4 HSAT may have potential as a screening tool for SDB and thus have sufficient clinical utility.
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Síndromes da Apneia do Sono , Adulto , Idoso , Feminino , Humanos , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Polissonografia , Sensibilidade e Especificidade , Síndromes da Apneia do Sono/diagnósticoRESUMO
The prevalence of diagnosed sleep disorders among Veterans treated at Veterans Affairs (VA) medical facilities increased significantly during fiscal years (FY) 2012 through 2018. Specifically, the prevalence of sleep-related breathing disorders (SRBD) increased from 5.5% in FY2012 to 22.2% in FY2018, and the prevalence of insomnia diagnoses increased from 7.4% in FY2012 to 11.8% in FY2018. Consequently, Veterans' demand for sleep medicine services also increased significantly between FY2012-2018, with steady increases in the annual number of VA sleep clinic appointments during this period (<250,000 in FY 2012; >720,000 in FY2018). Common co-morbid conditions among Veterans diagnosed with sleep disorders include obesity, diabetes, congestive heart failure, depression, post-traumatic stress disorder (PTSD) and traumatic brain injury (TBI). To address this healthcare crisis, the Veterans Health Administration (VHA) developed and/or implemented numerous innovations to improve the quality and accessibility of sleep care services for Veterans. These innovations include a TeleSleep Enterprise-Wide Initiative to improve rural Veterans' access to sleep care; telehealth applications such as the Remote Veteran Apnea Management Platform (REVAMP), Clinical Video Telehealth, and CBT-i Coach; increased use of home sleep apnea testing (HSAT); and programs for Veterans who experience sleep disorders associated with obesity, PTSD, TBI and other conditions.
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Acessibilidade aos Serviços de Saúde , Transtornos do Sono-Vigília/epidemiologia , Telemedicina , Veteranos/estatística & dados numéricos , Lesões Encefálicas Traumáticas , Comorbidade , Humanos , Obesidade , Prevalência , Distúrbios do Início e da Manutenção do Sono/epidemiologia , Distúrbios do Início e da Manutenção do Sono/terapia , Transtornos do Sono-Vigília/terapia , Transtornos de Estresse Pós-Traumáticos , Estados Unidos/epidemiologia , United States Department of Veterans AffairsRESUMO
Childhood obesity and associated modifiable risk factors exert significant burden on the health care system. The goal of this systematic review and meta-analysis was to examine the effectiveness of school-based intervention types perceived by Canadian stakeholders in health and education as feasible, acceptable and sustainable in terms of improving physical activity (PA), fruit and vegetable intake, and body weight. We searched multiple databases for studies that evaluated school-based interventions to prevent obesity and associated risk factors (i.e., unhealthy diet, physical inactivity, sedentary behaviour) in children aged 4-18 years from January 1, 2012 to January 28, 2020. From 10,871 identified records, we included 83 and 80 studies in our systematic review and meta-analysis, respectively. Comprehensive School Health (CSH) and interventions which focused on modifications to school nutrition policies showed statistically significant positive effects on fruit intake of 0.13 (95% CI: 0.04, 0.23) and 0.30 (95% CI: 0.1, 0.51) servings per day, respectively. No intervention types showed statistically significant effect on vegetable intake. CSH, modifications to physical education (PE) curriculum, and multicomponent interventions showed statistically significant difference in BMI of -0.26 (95% CI: -0.40, -0.12), -0.16 (95% CI: -0.3, -0.02), and -0.18 (95% CI: -0.29, -0.07), respectively. CSH interventions showed positive effect on step-count per day, but no other types of interventions showed significant effect on any of PA outcome measures. Thus, the results of this systematic review and meta-analysis suggest that decision-makers should carefully consider CSH, multicomponent interventions, modifications to PE curricula and school nutrition policies to prevent childhood obesity.
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Polysomnography refers to a systematic process used to collect physiologic parameters during sleep. A polysomnogram (PSG) is a procedure that utilizes electroencephalogram, electro-oculogram, electromyogram, electrocardiogram, and pulse oximetry, as well as airflow and respiratory effort, to evaluate for underlying causes of sleep disturbances. PSG is considered to be the gold standard for diagnosing sleep-related breathing disorders, which include obstructive sleep apnea (OSA), central sleep apnea, and sleep-related hypoventilation/hypoxia. PSG can also be utilized to evaluate for other sleep disorders, including nocturnal seizures, narcolepsy, periodic limb movement disorder, and rapid eye movement sleep behavior disorder. With recent technological developments, home sleep apnea testing can be done to confirm a diagnosis in patients with a high risk for moderate to severe OSA in the absence of comorbid medical conditions or other suspected sleep disorders.
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Polissonografia/métodos , Transtornos do Sono-Vigília/fisiopatologia , Sono/fisiologia , Eletroencefalografia/métodos , Eletromiografia/métodos , Humanos , Transtornos do Sono-Vigília/diagnósticoRESUMO
Enzyme replacement therapy (ERT) with rhGAA has improved clinical outcomes in infantile Pompe disease (IPD). A subset of CRIM-positive IPD patients develop high and sustained antibody titers (HSAT; ≥51,200) and/or sustained intermediate titer (SIT; ≥12,800 and <51,200), similar to CRIM-negative patients. To date there has been no systematic study to analyze the extent of IgG antibody response in CRIM-positive IPD. Such data would be critical and could serve as a comparator group for potential immune modulation approaches. A retrospective analysis of the dataset from the original rhGAA clinical trials final reports was conducted. CRIM-positive patients who received ERT monotherapy and had >6â¯months of antibody titer data available, were included in the study. Patients were classified based on their longitudinal antibody titers into HSAT, SIT, and low titer (LT; <12,800) groups. Of the 37 patients that met inclusion criteria, five (13%), seven (19%), and 25 (68%) developed HSAT, SIT, and LT, respectively. Median peak titers were 204,800 (51,200-409,600), 25,600 (12,800-51,200), and 800 (200-12,800) for HSAT, SIT, and LT groups, respectively. Median last titers were 102,400 (51,200-409,600), 1600 (200-25,600), and 400 (0-12,800) at median time since ERT initiation of 94â¯weeks (64-155â¯weeks), 104â¯weeks (86-144â¯weeks), and 130â¯weeks (38-182â¯weeks) for HSAT, SIT, and LT groups, respectively. 32% (12/37) of CRIM-positive IPD patients developed HSAT/SIT which may lead to limited ERT response and clinical decline. Further Studies are needed to identify CRIM-positive IPD patients at risk of developing HSAT/SIT, especially with the addition of Pompe disease to the newborn screening.
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ABSTRACT: The diagnosis and effective treatment of obstructive sleep apnea (OSA) in adults is an urgent health priority. It is the position of the American Academy of Sleep Medicine (AASM) that only a medical provider can diagnose medical conditions such as OSA and primary snoring. Throughout this statement, the term "medical provider" refers to a licensed physician and any other health care professional who is licensed to practice medicine in accordance with state licensing laws and regulations. A home sleep apnea test (HSAT) is an alternative to polysomnography for the diagnosis of OSA in uncomplicated adults presenting with signs and symptoms that indicate an increased risk of moderate to severe OSA. It is also the position of the AASM that: the need for, and appropriateness of, an HSAT must be based on the patient's medical history and a face-to-face examination by a medical provider, either in person or via telemedicine; an HSAT is a medical assessment that must be ordered by a medical provider to diagnose OSA or evaluate treatment efficacy; an HSAT should not be used for general screening of asymptomatic populations; diagnosis, assessment of treatment efficacy, and treatment decisions must not be based solely on automatically scored HSAT data, which could lead to sub-optimal care that jeopardizes patient health and safety; and the raw data from the HSAT device must be reviewed and interpreted by a physician who is either board-certified in sleep medicine or overseen by a board-certified sleep medicine physician.
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Assistência Ambulatorial , Polissonografia/normas , Síndromes da Apneia do Sono/diagnóstico , Adulto , Humanos , Programas de Rastreamento/normas , Papel do Médico , Valor Preditivo dos Testes , Garantia da Qualidade dos Cuidados de Saúde/normas , Risco , Síndromes da Apneia do Sono/terapia , Medicina do Sono , Sociedades Médicas , Telemedicina , Estados UnidosRESUMO
A family of long intergenic noncoding RNA (lincRNA) genes, FAM230 is formed via gene sequence duplication, specifically in human chromosomal low copy repeats (LCR) or segmental duplications. This is the first group of lincRNA genes known to be formed by segmental duplications and is consistent with current views of evolution and the creation of new genes via DNA low copy repeats. It appears to be an efficient way to form multiple lincRNA genes. But as these genes are in a critical chromosomal region with respect to the incidence of abnormal translocations and resulting genetic abnormalities, the 22q11.2 region, and also carry a translocation breakpoint motif, several intriguing questions arise concerning the presence and function of the translocation breakpoint sequence in RNA genes situated in LCR22s.
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OBJECTIVE: To investigate the feasibility and utility of a private community neurology practice-initiated home sleep apnea testing (HSAT) program. METHODS: A private community neurology practice conducted HSAT on patients clinically identified as high risk for obstructive sleep apnea (OSA). An academic board-certified sleep specialist performed all study interpretations. The presence and severity of OSA and its association with patient demographics (eg, sex, age) and comorbid health conditions relevant to OSA were evaluated. RESULTS: During 2011-2014, 147 consecutive patients clinically identified as highly "at risk for OSA" during their neurological visit underwent HSAT. Sixty-one percent (n=89) of patients had a "positive" study with evidence of an apnea-hypopnea index of greater than 5 events per hour. Of those, 37% (n=54) had mild OSA and 24% (n=35) had moderate-severe OSA. OSA was more common among men (54%, n=48) and in individuals with a previous documented history of depression (33%, n=48) and hypertension 44% (n=64). OSA treatment was ordered in 44% (n=39) of patients by the neurologists or by a sleep specialist. Twenty-four percent (n=21) of all patients studied were referred to a sleep specialist. CONCLUSION: Implementation of HSAT in a (nonsleep) private community neurology practice in collaboration with an academic sleep program is recommended. Based on this observational study, community-based neurological practices and board-certified sleep specialists should consider teaming up to develop HSAT collaborative programs to open new sleep care access pathways for neurological patients often at risk for sleep apnea.
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Serviços de Saúde Comunitária/organização & administração , Serviços de Assistência Domiciliar/organização & administração , Neurologia , Prática Privada , Apneia Obstrutiva do Sono/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Viabilidade , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Adulto JovemRESUMO
ABSTRACT: The diagnosis and effective treatment of obstructive sleep apnea (OSA) in adults is an urgent health priority. It is the position of the American Academy of Sleep Medicine (AASM) that only a physician can diagnose medical conditions such as OSA and primary snoring. Throughout this statement, the term "physician" refers to a medical provider who is licensed to practice medicine. A home sleep apnea test (HSAT) is an alternative to polysomnography for the diagnosis of OSA in uncomplicated adults presenting with signs and symptoms that indicate an increased risk of moderate to severe OSA. It is also the position of the AASM that: the need for, and appropriateness of, an HSAT must be based on the patient's medical history and a face-to-face examination by a physician, either in person or via telemedicine; an HSAT is a medical assessment that must be ordered by a physician to diagnose OSA or evaluate treatment efficacy; an HSAT should not be used for general screening of asymptomatic populations; diagnosis, assessment of treatment efficacy, and treatment decisions must not be based solely on automatically scored HSAT data, which could lead to sub-optimal care that jeopardizes patient health and safety; and the raw data from the HSAT device must be reviewed and interpreted by a physician who is either board-certified in sleep medicine or overseen by a board-certified sleep medicine physician.
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Polissonografia/instrumentação , Polissonografia/métodos , Autocuidado/instrumentação , Autocuidado/métodos , Apneia Obstrutiva do Sono/diagnóstico , Academias e Institutos , Adulto , Humanos , Estados UnidosRESUMO
A major obstacle to enzyme replacement therapy (ERT) with recombinant human acid-α-glucosidase (rhGAA) for Pompe disease is the development of high titers of anti-rhGAA antibodies in a subset of patients, which often leads to a loss of treatment efficacy. In an effort to induce sustained immune tolerance to rhGAA, we supplemented the rhGAA therapy with a weekly intravenous injection of synthetic vaccine particles carrying rapamycin (SVP-Rapa) during the first 3 weeks of a 12-week course of ERT in GAA-KO mice, and compared this with three intraperitoneal injections of methotrexate (MTX) per week for the first 3 weeks. Empty nanoparticles (NP) were used as negative control for SVP-Rapa. Co-administration of SVP-Rapa with rhGAA resulted in more durable inhibition of anti-rhGAA antibody responses, higher efficacy in glycogen clearance in skeletal muscles, and greater improvement of motor function than mice treated with empty NP or MTX. Body weight loss was observed during the MTX-treatment but not SVP-Rapa-treatment. Our data suggest that co-administration of SVP-Rapa may be an innovative and safe strategy to induce durable immune tolerance to rhGAA during the ERT in patients with Pompe disease, leading to improved clinical outcomes.