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Disparities in Genetic Testing for Inborn Errors of Immunity 先天性免疫错误基因检测中的差异。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.11.011
Karen M. Gilbert PhD , Heather M. McLaughlin PhD , Jocelyn R. Farmer MD, PhD , Mei-Sing Ong PhD

Background

Inequities in genetic testing have been documented in a range of diseases, and no-charge genetic testing programs have been proposed as a means to enhance access. However, no studies have examined disparities in genetic testing for inborn errors of immunity (IEI) and the impact of no-charge programs on testing equity.

Objective

To examine socioeconomic, geographic, and racial disparities in the uptake of genetic testing for IEI in the United States and the impact of a no-charge sponsored program on testing equity.

Methods

This was a retrospective cohort analysis of (1) a national claims database capturing individuals with IEI (n = 18,603), and (2) data from a clinical genetic testing laboratory capturing patients with IEI participating in a no-charge sponsored program (n = 6,681) and a non-sponsored program (n = 29,579) for IEI genetic testing.

Results

Among patients with IEI captured in the claims database, those residing in areas of greater deprivation (odds ratio [OR] = 0.95; 95% CI, 0.92-0.98), rural areas (OR = 0.82; 95% CI, 0.71-0.96), and non-White neighborhoods (OR = 0.89, 95% CI 0.81-0.98) were less likely to undergo genetic testing. Participants in the sponsored IEI genetic testing program lived in areas of greater deprivation compared with the non-sponsored program (median, 46 vs 42; P < .001). However, historically excluded racial groups were underrepresented in both the sponsored and non-sponsored programs relative to disease burden.

Conclusions

We found significant disparities in genetic testing for IEI. Although eliminating the financial barriers to testing reduced socioeconomic disparities in genetic testing for IEI, racial disparities persisted. Further research is needed to address barriers to testing among underserved populations.
背景:在一系列疾病中,基因检测中的不公平现象已被记录在案,免费基因检测计划已被提出作为提高基因检测普及率的一种手段。然而,目前还没有研究对先天性免疫错误(IEI)基因检测中的差异以及免费项目对检测公平性的影响进行研究:研究美国先天性免疫错误基因检测的社会经济、地理和种族差异,以及免费赞助项目对检测公平性的影响:回顾性队列分析:(方法:回顾性队列分析:(1) 国家索赔数据库中的 IEI 患者(人数=18,603);(2) 临床基因检测实验室中的 IEI 患者数据,这些患者参加了免费赞助计划(人数=6,681)和非赞助计划(人数=29,579)的 IEI 基因检测:在索赔数据库中记录的 IEI 患者中,居住在贫困地区(OR 0.95,95% CI 0.92-0.98)、农村地区(OR 0.82,95% CI 0.71-0.96)和非白人社区(OR 0.89,95% CI 0.81-0.98)的患者接受基因检测的可能性较低。与非赞助项目相比,赞助的 IEI 基因检测项目的参与者居住在更为贫困的地区(中位数:46 vs 42,P=0.05):46 vs 42, p结论:我们发现在 IEI 基因检测方面存在明显的差异。虽然消除检测的经济障碍缩小了 IEI 基因检测的社会经济差异,但种族差异依然存在。需要进一步开展研究,以解决服务不足人群的检测障碍。
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引用次数: 0
An Overview of Climate Change and Its Effects on Health: From Mechanisms to One Health
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2025.01.001
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引用次数: 0
Systemic Corticosteroids: The Importance of Limiting Their Use in Asthma
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.12.010
Anne L. Fuhlbrigge MD, MS , Stanley J. Szefler MD
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引用次数: 0
May 2024 Practice Notes
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/S2213-2198(25)00014-5
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引用次数: 0
Clinical Remission in Patients With Biologic-Naïve Asthma: A Multicenter Study in Japan 生物制剂无效哮喘患者的临床缓解:日本一项多中心研究。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.10.037
Keiji Oishi MD, PhD , Kazuki Hamada MD, PhD , Ayumi Fukatsu-Chikumoto MD , Yoriyuki Murata MD, PhD , Maki Asami-Noyama MD , Nobutaka Edakuni MD, PhD , Tsunahiko Hirano MD, PhD , Kazuto Matsunaga MD, PhD

Background

Clinical remission (CR) is a new realistic management goal for patients with asthma, regardless of the disease severity.

Objective

To investigate the rate of achievement of CR in patients treated with inhaled corticosteroid/long-acting β2-agonist (ICS/LABA) and nonbiologics and the characteristics of patients who achieved CR.

Methods

We performed a post hoc analysis from a multicenter, cross-sectional survey in Japan. 3-way CR was defined as the absence of exacerbation, no use of maintenance oral corticosteroids, and the absence of significant asthma symptoms (5-item Asthma Control Questionnaire < 1.5). We defined 4-way CR as 3-way CR plus having normalized lung function (forced expiratory volume in 1 second [%FEV1] ≥ 80%). Deep remission was defined as 4-way CR plus suppressed type 2 airway inflammation (fraction of exhaled nitric oxide [FeNO] < 35 ppb).

Results

The criteria for 3-way CR, 4-way CR, and deep remission were met by 56.9%, 35.0%, and 24.7% of patients, respectively. Compared with patients who achieved the 3-way CR, unachieved patients have lower %FEV1 (77.6% vs 85.4%; P < .0001) and higher FeNO levels (42 ppb vs 34 ppb; P = .0182), and there were more discordances in asthma control perception between patient and physicians (38.5% vs 9.3%; P < .0001). Physician-patient discordance was an independent factor that prevented the achievement of the 3-way CR in the logistic regression analysis, even when adjusted for %FEV1 and FeNO (odds ratio 0.397; P < 0.0001).

Conclusions

Achieving CR in patients treated with ICS/LABA without biologics is challenging. Discrepancies between patient and physician perceptions on asthma control are significant barriers to achieving CR.
背景:临床缓解(CR)是哮喘患者新的现实管理目标,无论疾病严重程度如何:调查接受吸入性皮质激素/长效β2-受体激动剂(ICS/LABA)和非生物制剂治疗的患者达到临床缓解的比率,以及达到临床缓解的患者的特征:我们对日本的一项多中心横断面调查进行了事后分析。3 向 CR 定义为无病情加重、未使用维持性口服皮质类固醇、无明显哮喘症状(5 项哮喘控制问卷 [ACQ] < 1.5)。我们将 4 向 CR 定义为 3 向 CR 加上肺功能正常化(用力呼气容积 [%FEV1] ≥ 80%)。深度缓解(DR)的定义是:4向CR加上2型气道炎症得到抑制(部分呼出一氧化氮[FeNO] < 35 ppb):分别有 56.9%、35.0% 和 24.7% 的患者达到了 3 向 CR、4 向 CR 和 DR 的标准。与达到 3 向 CR 的患者相比,未达到 CR 的患者的肺活量百分比较低(77.6% 对 85.4%,p):使用 ICS/LABA 而不使用生物制剂的患者达到 CR 具有挑战性。患者和医生对哮喘控制的看法不一致是实现 CR 的重大障碍。
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引用次数: 0
Evaluation and Application of the Work-Related Asthma Screening Questionnaire—Long Version (WRASQ[L]) 与工作有关的哮喘筛查问卷(长版)(WRASQ-L)TM 的评估和应用。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.10.012
Madison A. MacKinnon MSc , Taylar Wall RRT , Alison Morra DN , Teresa To PhD , Catherine Lemiere MD, MSc , M. Diane Lougheed MD, MSc

Background

The Work-related Asthma (WRA) Screening Questionnaire—Long Version (WRASQ(L)) is a screening questionnaire that could improve the recognition of WRA.

Objective

To conduct a definitive evaluation of the WRASQ(L) to justify its implementation in clinical settings.

Methods

Employed adults aged 18 to 75 years with asthma confirmed by objective measures and the ability to take time off work were eligible. Participants completed the WRASQ(L) and then monitored their peak expiratory flow at and away from work or completed a specific inhalation challenge test. Data were classified as WRA or non-WRA by 2 asthma specialists, blinded to WRASQ(L) answers. Sensitivity (SN), specificity (SP), positive and negative predictive values (PPV and NPV, respectively), and Youden’s index were calculated for cutoffs of a positive screen.

Results

Of 106 participants (47.1 ± 7.1 years [mean ± standard deviation]; 60 [57%] female), 14 (17%) were classified as having WRA and were significantly younger in age than non-WRA participants (P = .043). The questionnaire has high SN and NPV (90.9% and 93.1%, respectively) but low PPV and SP (32.1% and 26.0%, respectively).

Conclusions

The WRASQ(L) has high SN and NPV. High SN is of primary interest to ensure that few false-negative screens are missed and those with potential WRA are identified and continue to specialist care. The SN indicates utility of the questionnaire in clinical settings. Further benefits of the tool include its potential to prompt education on the symptom-workplace relationship, workplace exposures, personal protective equipment use, and collect exposure and occupational history.
背景:工作相关哮喘(WRA)筛查问卷(长版)(WRASQ-L)TM是一种筛查问卷,可提高对WRA的识别率:目的:对 WRASQ-LTM 进行最终评估,以证明其在临床环境中的应用合理性:方法:年龄在 18-75 岁之间、通过客观测量确认患有哮喘且能够请假的就业成人均符合条件。参与者填写 WRASQ-LTM,然后监测上班和下班时的呼气流量峰值,或完成特定的吸入挑战测试。数据由两名哮喘专家分类为WRA或非WRA,他们对WRASQ-LTM的答案视而不见。计算了阳性筛查的敏感性(SN)、特异性(SP)、阳性预测值(PPV)和阴性预测值(NPV)以及尤登指数:在 106 名参与者(47.1±7.1 岁(平均值±标度);60 名(57%)女性)中,14 名(17%)被归类为 WRA,其年龄明显小于非 WRA 参与者(P=0.043)。问卷的SN和NPV较高(分别为90.9%和93.1%),但PPV和SP较低(分别为32.1%和26.0%):结论:WRASQ-LTM 具有较高的 SN 和 NPV。结论:WRASQ-LTM 具有较高的信噪比(SN)和净信噪比(NPV)。SN表明了问卷在临床环境中的实用性。该工具的其他益处还包括:它有可能促进有关症状与工作场所的关系、工作场所接触、个人防护设备使用的教育,并收集接触史和职业史。
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引用次数: 0
Assessing the accuracy of ChatGPT’s responses to common allergy myths 评估 ChatGPT 对常见过敏误区回应的准确性。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.11.002
Ricardo J. Estrada-Mendizabal MD , Gabriel Cojuc-Konigsberg MD , Ebram N. Labib MD , Carlos De la Cruz-De la Cruz MD , Alexei Gonzalez-Estrada MD , Lyda Cuervo-Pardo MD , Ricardo Zwiener MD , Alejandra Canel-Paredes MD
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引用次数: 0
The Effect of Climate Change on Allergen and Irritant Exposure 气候变化对过敏原和刺激物暴露的影响。
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-02-01 DOI: 10.1016/j.jaip.2024.12.019
Sunghyub Kim DO , Athanasios Damialis PhD , Athanasios Charalampopoulos PhD , Dayne H. Voelker MD , Andrew C. Rorie MD
As the effects of anthropogenic climate change have become more apparent, the influences of climate and extreme weather events on health have continued to gain attention. The fact Earth has warmed over the past century is indisputable and the rate of warming is more alarming. As a result of anthropogenic climate change, an alteration in the air mixture has occurred over time. These changes have increased human exposures to respiratory irritants such as ground-level ozone, volatile organic compounds, nitrogen dioxide, sulfur dioxide, carbon monoxide, and polycyclic aromatic hydrocarbons. A significant amount of research has investigated the effects of climate change on aeroallergens, which has shown that elevated temperatures and increased carbon dioxide levels have produced prolonged and more robust pollen seasons for most taxa studied. In addition, it appears possible that exposure of some plants to air pollution may result in more allergenic pollen. Increased human exposures to these respiratory irritants and aeroallergens appears to disproportionality effect vulnerable populations throughout the world. It is essential to understand that climate change is more than an environmental inconvenience and realize the effects to human health are directly related and conceivably immeasurable. It is vital to conduct additional research related to climate change and health that is collaborative, multisectoral, and transdisciplinary. There should be a focus on risk reduction, mitigation, and preparedness for climate change and extreme weather events for all populations around the globe.
随着人为气候变化的影响日益明显,气候和极端天气事件对健康的影响继续受到关注。地球在过去一个世纪里变暖的事实是无可争辩的,而且变暖的速度更令人担忧。随着时间的推移,由于人为气候变化,空气混合物发生了变化。这些变化增加了人类对呼吸道刺激物的暴露,如地面臭氧、挥发性有机化合物、二氧化氮、二氧化硫、一氧化碳和多环芳烃。大量的研究已经调查了气候变化对空气过敏原的影响,这些研究表明,温度升高和二氧化碳(CO2)水平的增加使大多数被研究的分类群的花粉季节延长和更强劲。此外,一些植物暴露在空气污染中可能会导致更多的过敏性花粉。人类暴露于这些呼吸道刺激物和空气过敏原的增加似乎对全世界的易感人群产生不成比例的影响。重要的是要了解气候变化不仅仅是对环境的不便,而且要认识到它对人类健康的影响是直接相关的,而且是不可估量的。开展与气候变化和健康有关的更多合作、多部门和跨学科研究至关重要。应该把重点放在为全球所有人口减少、减轻和防备气候变化和极端天气事件上。
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引用次数: 0
Updates in food anaphylaxis management.
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-01-29 DOI: 10.1016/j.jaip.2024.12.044
Jay A Lieberman, Elissa M Abrams, Priya Katari, Moshe Ben-Shoshan

The management of food allergy has evolved over the past several years with regulatory approval of food allergy therapeutics as well as the common practice of oral immunotherapy. Whether a patient or family chooses one of these therapies or avoidance, they are still considered at risk of reaction, and thus clinicians still need to stay up to date with the latest advancements in the management of anaphylaxis in patients with food allergy. This review will highlight some of these updates, starting with the definition, diagnosis, and classifications of anaphylaxis. It will then review the latest updates in management of food anaphylaxis in the community. Finally, the review will discuss the latest in epinephrine including recommendations on epinephrine dosing and novel routes of epinephrine administration.

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引用次数: 0
Poor agreement among asthma specialists on the choice and timing of initiation of a biologic treatment for severe asthma patients.
IF 8.2 1区 医学 Q1 ALLERGY Pub Date : 2025-01-24 DOI: 10.1016/j.jaip.2025.01.017
Andréanne Côté, Rosalie Beaulé, Marie-Ève Boulay, Jakie Guertin, Louis-Philippe Boulet, Krystelle Godbout, David Price

Background: As the number of monoclonal antibodies available for severe asthma is growing, specialists currently choose without clear guidelines. Despite increasing knowledge on treatment response to these monoclonal antibodies, making the optimal choice for each individual patient remains a challenge. However, evidence of this daily challenge is lacking.

Objective: To evaluate inter-observer agreement on the choice of biologic therapy in severe asthma patients among severe asthma specialists, based on clinical cases.

Methods: This two-phase study included a pilot local study and an international validation study. Asthma specialists were presented 7 real-life asthma cases managed with a monoclonal antibody. Based on the clinical information provided in the cases, they were asked if they would have initiated a monoclonal antibody and, if so, their treatment of choice between a) Omalizumab, b) Mepolizumab, c) Reslizumab, d) Benralizumab and e) Dupilumab. Interobserver agreement for each question was assessed using Gwet's AC1.

Results: Sixteen physicians from the Province of Quebec (Canada) completed the pilot survey, and 70 physicians from 26 countries completed the international survey. Gwet's AC1 for the decision to initiate a biological therapy was 0.48 in the pilot survey and 0.33 in the international survey. For the choice of therapy, agreement was 0.33 and 0.26, respectively.

Conclusions: The inter-observer agreement among asthma specialists in both the decision to initiate a biological treatment in patients with severe asthma and in the selection of treatment is weak. These results highlight the need for studies seeking reliable predictors for optimal response to biological therapies.

{"title":"Poor agreement among asthma specialists on the choice and timing of initiation of a biologic treatment for severe asthma patients.","authors":"Andréanne Côté, Rosalie Beaulé, Marie-Ève Boulay, Jakie Guertin, Louis-Philippe Boulet, Krystelle Godbout, David Price","doi":"10.1016/j.jaip.2025.01.017","DOIUrl":"https://doi.org/10.1016/j.jaip.2025.01.017","url":null,"abstract":"<p><strong>Background: </strong>As the number of monoclonal antibodies available for severe asthma is growing, specialists currently choose without clear guidelines. Despite increasing knowledge on treatment response to these monoclonal antibodies, making the optimal choice for each individual patient remains a challenge. However, evidence of this daily challenge is lacking.</p><p><strong>Objective: </strong>To evaluate inter-observer agreement on the choice of biologic therapy in severe asthma patients among severe asthma specialists, based on clinical cases.</p><p><strong>Methods: </strong>This two-phase study included a pilot local study and an international validation study. Asthma specialists were presented 7 real-life asthma cases managed with a monoclonal antibody. Based on the clinical information provided in the cases, they were asked if they would have initiated a monoclonal antibody and, if so, their treatment of choice between a) Omalizumab, b) Mepolizumab, c) Reslizumab, d) Benralizumab and e) Dupilumab. Interobserver agreement for each question was assessed using Gwet's AC1.</p><p><strong>Results: </strong>Sixteen physicians from the Province of Quebec (Canada) completed the pilot survey, and 70 physicians from 26 countries completed the international survey. Gwet's AC1 for the decision to initiate a biological therapy was 0.48 in the pilot survey and 0.33 in the international survey. For the choice of therapy, agreement was 0.33 and 0.26, respectively.</p><p><strong>Conclusions: </strong>The inter-observer agreement among asthma specialists in both the decision to initiate a biological treatment in patients with severe asthma and in the selection of treatment is weak. These results highlight the need for studies seeking reliable predictors for optimal response to biological therapies.</p>","PeriodicalId":51323,"journal":{"name":"Journal of Allergy and Clinical Immunology-In Practice","volume":" ","pages":""},"PeriodicalIF":8.2,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Journal of Allergy and Clinical Immunology-In Practice
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