Clinical Autonomic Research最新文献

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Autonomic dysfunction after stroke: an overview of recent clinical evidence and perspectives on therapeutic management. 卒中后自主神经功能障碍:近期临床证据和治疗管理观点综述。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-03-25 DOI: 10.1007/s10286-025-01120-0
Anush Barkhudaryan, Wolfram Doehner, Nadja Jauert
{"title":"Autonomic dysfunction after stroke: an overview of recent clinical evidence and perspectives on therapeutic management.","authors":"Anush Barkhudaryan, Wolfram Doehner, Nadja Jauert","doi":"10.1007/s10286-025-01120-0","DOIUrl":"https://doi.org/10.1007/s10286-025-01120-0","url":null,"abstract":"<p><strong>Purpose: </strong>Central autonomic dysfunction is common in acute stroke and is associated with cardiovascular complications and increased mortality. The aim of this review is to present novel diagnostic and therapeutic approaches to the management of this disorder and the latest data on its impact on the clinical outcome after stroke.</p><p><strong>Methods: </strong>We performed a narrative review of recent literature, with a particular focus on articles related to underlying pathophysiological mechanisms of cardiac autonomic dysregulation, the role of cardiac autonomic dysregulation in the activation of neuroinflammatory response and the development of cardiovascular, respiratory and metabolic complications in patients with ischemic and hemorrhagic stroke.</p><p><strong>Results: </strong>The assessment of central autonomic dysfunction by non-invasive diagnostic techniques, including heart rate variability and baroreflex sensitivity, has gained wide practical application in recent years, and they may have a predictive role for evaluating disease prognosis. The emerging evidence derived from recent trials demonstrates that the presence of autonomic imbalance may lead to increased mortality and have an adverse effect on post-stroke rehabilitation.</p><p><strong>Conclusion: </strong>The early detection and treatment of central autonomic system dysfunction may lead to improved survival of patients with stroke. Among the available therapeutic approaches, neuromodulatory techniques and pharmacological interventions are promising strategies which may be implemented as part of standard acute stroke care to improve patient recovery. Future studies are warranted to address the long-term effects of potential therapeutic agents on the modulation of cardiovascular autonomic function in stroke survivors.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143708824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Carbidopa: beyond Parkinson's disease. 卡比多巴:超越帕金森病。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-03-08 DOI: 10.1007/s10286-025-01122-y
Abhishek Lenka, Steven Vernino
{"title":"Carbidopa: beyond Parkinson's disease.","authors":"Abhishek Lenka, Steven Vernino","doi":"10.1007/s10286-025-01122-y","DOIUrl":"10.1007/s10286-025-01122-y","url":null,"abstract":"<p><strong>Purpose: </strong>To revisit the pharmacology and real-world use of carbidopa in the management of autonomic disorders.</p><p><strong>Methods: </strong>To identify articles suitable for this review, a search of the PubMed database was conducted in January 2025 using the keywords \"Carbidopa,\" \"MK-486,\" and \"L-alpha-methyldopa hydrazine.\"</p><p><strong>Results: </strong>The pharmacotherapeutic role of carbidopa extends beyond the management of Parkinson's disease. Our literature search revealed the use of carbidopa in three primary autonomic diseases to treat either nausea or symptoms of sympathetic hyperactivity: (1) familial dysautonomia, (2) hyperadrenergic postural orthostatic tachycardia syndrome (POTS), and (3) afferent baroreflex failure (familial or acquired). Even at a dose as high as 600 mg/day, carbidopa was not associated with bothersome side effects in some of the clinical trials on familial dysautonomia. Pre-clinical evidence also suggests in vitro and in vivo inhibition of T-cell activation by carbidopa and a potential therapeutic use in cytokine release syndrome.</p><p><strong>Conclusion: </strong>Current evidence, although limited, suggests that carbidopa has a favorable safety profile. While large, well-designed studies are warranted, observations from case series and small studies suggest that carbidopa could have utility in treating nausea in familial dysautonomia and symptoms of sympathetic hyperactivity in hyperadrenergic postural orthostatic tachycardia syndrome (POTS) and afferent baroreflex failure.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Association between cardiac autonomic dysfunction, cognitive impairment, and survival in patients with amyotrophic lateral sclerosis. 肌萎缩性侧索硬化症患者心脏自主神经功能障碍、认知障碍和生存之间的关系。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-03-08 DOI: 10.1007/s10286-025-01112-0
Zehui Li, Jingjing Fan, Zhenxiang Gong, Jiahui Tang, Yuan Yang, Mao Liu, Min Zhang
{"title":"Association between cardiac autonomic dysfunction, cognitive impairment, and survival in patients with amyotrophic lateral sclerosis.","authors":"Zehui Li, Jingjing Fan, Zhenxiang Gong, Jiahui Tang, Yuan Yang, Mao Liu, Min Zhang","doi":"10.1007/s10286-025-01112-0","DOIUrl":"10.1007/s10286-025-01112-0","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to investigate the relationship between cardiac autonomic dysfunction, cognitive impairment, and survival in patients with amyotrophic lateral sclerosis (ALS).</p><p><strong>Methods: </strong>The heart activity of 65 patients with ALS (28 with normal cognition [ALS-CN]; 37 with impaired cognition [ALS-CI]) and 38 healthy controls (HCs) was measured by 24-h Holter monitoring. Heart rate (HR) measures and heart rate variability (HRV) parameters were compared between the three study groups and, additionally, correlated with five Edinburgh Cognitive and Behavioral ALS Screen (ECAS) domains in the ALS subgroups. Age, gender, and educational level were adjusted. Factors associated with cognitive status were assessed using logistic regression. Survival predictors in patients with ALS were analyzed using the Kaplan-Meier estimator and Cox regression.</p><p><strong>Results: </strong>Compared to the HCs, patients with ALS-CI exhibited lower RRI (R-R-interval; P = 0.017), SDNN (standard deviation of all normal RR intervals; P = 0.013), SDNN Index (P = 0.044), and VLF power (very low-frequency power; P = 0.012). Total power was reduced in the ALS-CI group compared to the HCs (P = 0.036) and ALS-CN group (P = 0.048). In patients with ALS-CN, language negatively correlated with mean HR (P = 0.001) and positively with the RRI (P = 0.003), SDNN (P = 0.001), SDANN (standard deviation of the average NN intervals; P = 0.005), total power (P = 0.006), VLF power (P = 0.011), and low-frequency power (P = 0.026). Visuospatial function correlated positively with the SDNN Index (P = 0.041). In patients with ALS-CI, executive function (P = 0.015) and ECAS total score (P = 0.009) negatively correlated with the RMSSD (square root of mean sum-of-squares of differences between adjacent NN intervals), while visuospatial function correlated positively with normalized LF value (LFnu; P = 0.049). No associations were observed between the other cognitive domains and any of the 14 HRV/HR measures in patients with either ALS-CI or ALS-CN. SDNN ≤ 100 ms was linked to cognitive impairment (P = 0.039) and also showed a borderline association (P = 0.066) with poorer survival, while cognitive impairment (P = 0.010) was significantly linked to worse outcomes.</p><p><strong>Conclusions: </strong>Patients with ALS with cognitive impairment demonstrated reduced cardiac autonomic modulations and altered cognitive autonomic associations. Cognitive impairment was linked to reduced survival, with baseline SDNN ≤ 100 ms identified as a potential marker.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The phenotype of "pure" autonomic failure. “纯”自主神经衰竭的表型。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-03-07 DOI: 10.1007/s10286-025-01121-z
Elizabeth A Coon, Negin Badihian, Stuart J McCarter, David M Sletten, Sarah E Berini, Eduardo E Benarroch, Paola Sandroni, Phillip A Low, Wolfgang Singer
{"title":"The phenotype of \"pure\" autonomic failure.","authors":"Elizabeth A Coon, Negin Badihian, Stuart J McCarter, David M Sletten, Sarah E Berini, Eduardo E Benarroch, Paola Sandroni, Phillip A Low, Wolfgang Singer","doi":"10.1007/s10286-025-01121-z","DOIUrl":"https://doi.org/10.1007/s10286-025-01121-z","url":null,"abstract":"<p><strong>Purpose: </strong>Identifying features of patients who remain pure autonomic failure has implications on disease definition and offers insights into synucleinopathy progression. We sought to determine symptom timeline and autonomic features in patients who retain the pure autonomic failure phenotype with prolonged follow-up.</p><p><strong>Methods: </strong>We reviewed all patients diagnosed with pure autonomic failure from 2001 to 2011 evaluated at Mayo Clinic, Rochester, with autonomic reflex screen and over 1 year of in-person follow-up. Clinical evaluations and patient telephone calls were used to assess timeline of symptoms.</p><p><strong>Results: </strong>Of 202 patients, 133 remained pure autonomic failure with median follow-up time of 9.05 years (interquartile range (IQR) 4.2-13.1). Additional autonomic symptoms included constipation (N = 60; 45%), bladder symptoms (N = 78; 59%), which were severe in 50 patients (37.6%) with incontinence or requiring catheterization, sexual dysfunction (N = 53; 40%) and thermoregulatory dysfunction (N = 51; 38%). Assessment of dream enactment behavior was completed in 86 patients and endorsed in 45 patients (52%). Median time to dream enactment behavior onset from orthostatic hypotension was 7.00 years (1.55-13.50). Other autonomic symptoms tended to occur near orthostatic hypotension. Autonomic testing showed moderate to severe autonomic failure with median composite autonomic score of 6 (IQR 4-8; N = 133) and median percentage anhidrosis of 51% (IQR 3-93%; N = 105).</p><p><strong>Conclusions: </strong>Patients with pure autonomic failure typically have symptom onset near development of orthostatic hypotension while dream enactment behavior may occur later. Our findings underscore that not all patients with pure autonomic failure will develop motor or cognitive symptoms, even with prolonged follow-up.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Sit-up test to assess orthostatic hypotension in individuals with spinal cord injury. 评估脊髓损伤个体直立性低血压的仰卧起坐试验。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-03-04 DOI: 10.1007/s10286-024-01102-8
Jill M Wecht, Matthew T Maher, Steven C Kirshblum, Miguel X Escalon, Joseph P Weir
{"title":"Sit-up test to assess orthostatic hypotension in individuals with spinal cord injury.","authors":"Jill M Wecht, Matthew T Maher, Steven C Kirshblum, Miguel X Escalon, Joseph P Weir","doi":"10.1007/s10286-024-01102-8","DOIUrl":"https://doi.org/10.1007/s10286-024-01102-8","url":null,"abstract":"<p><strong>Aim: </strong>Individuals with spinal cord injury (SCI) have an increased prevalence of orthostatic hypotension (OH). Diagnosis of OH is made with active standing or tilt table testing, with limited the use in individuals with SCI.</p><p><strong>Methods: </strong>An alternative approach to assess OH is the sit-up test, which involves passive repositioning from the supine to the seated position. The purpose of this study was to document the reliability and validity of the sit-up test, and determine whether the level or severity of injury related to orthostatic blood pressure (BP) responses in a large, diverse group of individuals with SCI.</p><p><strong>Results: </strong>A total of 166 participants-119 individuals with SCI and 47 uninjured control-completed two sit-up tests, and 36 individuals who completed the sit-up tests also underwent a head-up tilt test. Change in BP from sit-up test 1 to sit-up test 2 was not significantly different for either systolic BP or diastolic BP. Neither level nor severity of injury contributed to the reliability assessments, which showed disappointing results with generally low interclass correlation coefficients (ICC), with values ranging from 0 to 0.63, and large standard error of measurements (SEM), ranging from 5.2 to 13.7 mmHg. Comparison between BP responses to the sit-up test and the head-up tilt showed good sensitivity and specificity, with positive predictive values > 75%.</p><p><strong>Conclusion: </strong>Prevalent BP instability likely contributed to the poor reliability of the sit-up test, but the test is easy to perform with a high likelihood ratio for the valid assessment of OH in individuals with SCI.</p><p><strong>Clinical trial registration: </strong>NCT01758692.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Effects of neck compression on chemoreflex sensitivity and cardiorespiratory hemodynamics in patients with postural orthostatic tachycardia syndrome (POTS). 颈部压迫对体位性心动过速综合征(POTS)患者化疗反射敏感性和心肺血流动力学的影响。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-02-26 DOI: 10.1007/s10286-025-01119-7
Shaun I Ranada, Jacquie R Baker, Cameron Wong, Kavithra Karalasingham, Richard J A Wilson, Aaron A Phillips, Robert S Sheldon, Heather Edgell, Satish R Raj
{"title":"Effects of neck compression on chemoreflex sensitivity and cardiorespiratory hemodynamics in patients with postural orthostatic tachycardia syndrome (POTS).","authors":"Shaun I Ranada, Jacquie R Baker, Cameron Wong, Kavithra Karalasingham, Richard J A Wilson, Aaron A Phillips, Robert S Sheldon, Heather Edgell, Satish R Raj","doi":"10.1007/s10286-025-01119-7","DOIUrl":"https://doi.org/10.1007/s10286-025-01119-7","url":null,"abstract":"","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Maintained sympathetic reactivity but blunted pressor response to static handgrip exercise in heart failure with preserved ejection fraction. 保留射血分数的心力衰竭患者,静态握力运动维持交感神经反应,但降低升压反应。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-02-26 DOI: 10.1007/s10286-025-01114-y
Takuro Washio, Ryosuke Takeda, Sarah L Hissen, John D Akins, Andrew W D'Souza, Denis J Wakeham, Tiffany Brazile, Kevin Lutz, Christopher M Hearon, James P MacNamara, Satyam Sarma, Benjamin D Levine, Paul J Fadel, Qi Fu
{"title":"Maintained sympathetic reactivity but blunted pressor response to static handgrip exercise in heart failure with preserved ejection fraction.","authors":"Takuro Washio, Ryosuke Takeda, Sarah L Hissen, John D Akins, Andrew W D'Souza, Denis J Wakeham, Tiffany Brazile, Kevin Lutz, Christopher M Hearon, James P MacNamara, Satyam Sarma, Benjamin D Levine, Paul J Fadel, Qi Fu","doi":"10.1007/s10286-025-01114-y","DOIUrl":"https://doi.org/10.1007/s10286-025-01114-y","url":null,"abstract":"<p><strong>Purpose: </strong>Recent studies have reported blunted increases in blood pressure (BP) during static handgrip (SHG) in patients with heart failure with preserved ejection fraction (HFpEF), which may be attributed to abnormal sympathetic reactivity during exercise and/or impaired muscle metaboreflex function. However, it is unknown whether the sympathetic neural response to SHG and isolated muscle metaboreflex activation via post-exercise circulatory occlusion (PECO) are attenuated in HFpEF.</p><p><strong>Methods: </strong>Thirty-nine patients with HFpEF and 24 age-matched non-HFpEF controls were studied in the supine position. BP, heart rate (HR), and muscle sympathetic nerve activity (MSNA) were measured during SHG at 40% of maximal voluntary contraction until fatigue followed by 2-min PECO.</p><p><strong>Results: </strong>Resting mean arterial pressure (MAP) was lower and peak increase (Δ) in MAP was smaller in patients with HFpEF than in controls during SHG (Δ23 ± 15 [standard deviation] vs. Δ34 ± 15 mmHg; P = 0.007) and PECO (Δ15 ± 11 vs. Δ19 ± 9 mmHg; P = 0.047). HR was greater in patients at rest but did not differ between the two groups at peak SHG. Patients had higher resting MSNA burst frequency than controls (37 ± 14 vs. 27 ± 13 bursts/min; P = 0.031); however, burst incidence was not different between the groups (P = 0.226). There were no differences in MSNA responses to SHG (Δ19 ± 15 vs. Δ18 ± 10 bursts/min at peak; P = 0.841) or PECO (Δ3 ± 12 vs. Δ5 ± 7 bursts/min; P = 0.495) between groups.</p><p><strong>Conclusion: </strong>The patients with HFpEF maintained sympathetic reactivity but had an attenuated pressor response during fatiguing SHG. Additionally, muscle metaboreflex activation of vasomotor sympathetic outflow appeared to be minimal in both groups, with no significant difference between patients and controls.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143499636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers. 预测非帕金森LRRK2 G2019S突变携带者的运动和非运动损害的心跳特征
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-02-19 DOI: 10.1007/s10286-024-01104-6
Claudia Carricarte Naranjo, Connie Marras, Naomi P Visanji, David J Cornforth, Lazaro Sanchez-Rodriguez, Birgitt Schüle, Samuel M Goldman, Mario Estévez, Phyllis K Stein, Herbert F Jelinek, Anthony E Lang, Andrés Machado
{"title":"Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers.","authors":"Claudia Carricarte Naranjo, Connie Marras, Naomi P Visanji, David J Cornforth, Lazaro Sanchez-Rodriguez, Birgitt Schüle, Samuel M Goldman, Mario Estévez, Phyllis K Stein, Herbert F Jelinek, Anthony E Lang, Andrés Machado","doi":"10.1007/s10286-024-01104-6","DOIUrl":"https://doi.org/10.1007/s10286-024-01104-6","url":null,"abstract":"<p><strong>Purpose: </strong>Increased beat-to-beat heart rate variability (HRV) is a feature of patients with Parkinson's disease (PD) who carry the G2019S mutation in the LRRK2 gene (LRRK2-PD). Since LRRK2 mutations have incomplete penetrance, HRV changes preceding PD conversion would likely be observed only in a subset of LRRK2 non-manifesting carriers (NMC). We aimed to assess HRV in a subgroup of NMC with distinctive characteristics of LRRK2-PD, identified through clustering analysis.</p><p><strong>Methods: </strong>HRV measures derived from 300 normal heartbeat intervals extracted from the electrocardiograms of 25 NMC, 32 related non-carriers (RNC), 27 unrelated healthy controls, and 14 patients with LRRK2-PD were analyzed. Clinical symptoms were evaluated using questionnaires and scales, and three NMC subgroups were identified using a k-means cluster analysis on the basis of the deceleration capacity of heart rate (DC) and Rényi entropy. Standard and advanced HRV measures were compared using multiple regression analysis, controlling for age, sex, and mean heart rate.</p><p><strong>Results: </strong>Beat-to-beat HRV markers were significantly increased in a subgroup of seven NMC (NMC2, 28%) compared with RNC and controls. Increased irregularity and DC were also verified in the NMC2 compared with controls, and were typical traits in both the NMC2 and RNC. Overall, the HRV profile of NMC2 was comparable to that of patients with LRRK2-PD. NMC2 further exhibited greater motor and non-motor traits than the other NMC, RNC, and controls.</p><p><strong>Conclusions: </strong>Our results confirmed that HRV characteristics of LRRK2-PD are also found in a subset of NMC displaying clinical traits of LRRK2-PD. Further research is needed to clarify whether higher HRV represents a LRRK2-PD prodromal manifestation.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The genetic landscape of pediatric postural orthostatic tachycardia syndrome. 儿童体位性心动过速综合征的遗传景观。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-02-18 DOI: 10.1007/s10286-025-01110-2
Huiqi Qu, Jingchun Qu, Xiao Chang, Nolan Williams, Frank Mentch, James Snyder, Maria Lemma, Kenny Nguyen, Meckenzie Behr, Michael March, John Connolly, Joseph Glessner, Jeffrey R Boris, Hakon Hakonarson
{"title":"The genetic landscape of pediatric postural orthostatic tachycardia syndrome.","authors":"Huiqi Qu, Jingchun Qu, Xiao Chang, Nolan Williams, Frank Mentch, James Snyder, Maria Lemma, Kenny Nguyen, Meckenzie Behr, Michael March, John Connolly, Joseph Glessner, Jeffrey R Boris, Hakon Hakonarson","doi":"10.1007/s10286-025-01110-2","DOIUrl":"https://doi.org/10.1007/s10286-025-01110-2","url":null,"abstract":"<p><strong>Background: </strong>Postural orthostatic tachycardia syndrome (POTS) is a complex disorder with serious health consequences, while its etiology remains largely elusive.</p><p><strong>Objective: </strong>The purpose of this study was to investigate the genetic landscape of POTS using genomic approaches in a unique pediatric cohort.</p><p><strong>Methods: </strong>We conducted a combined genome wide genotyping and whole exome sequencing (WES) study to systemically examine the molecular mechanisms of POTS pathogenesis. The patients were genotyped as two independent cohorts: a family cohort of 100 complete families and a case-control cohort of 207 unrelated European cases and 4063 ethnicity-matched control subjects. The WES component consisted of a subset of the genotyped subjects, including 87 unrelated European cases and 2719 unrelated European control subjects.</p><p><strong>Results: </strong>The heterogeneous phenotype of POTS made achieving genome-wide significance improbable. Instead, 5670 SNPs with nominal significance (P < 0.05) were identified in both the family and case-control cohorts, with effects in the same direction. We conducted an over-representation analysis (ORA) by considering all genes that showed nominal significance. The ORA identified gene sets linked to cell-cell junction, early estrogen response, and substance-related disorders with statistical significance. Moreover, WES revealed 55 genes with genome-wide significance through rare variant burden analysis, harboring 92 variants classified as pathogenic or likely pathogenic by ClinVar.</p><p><strong>Conclusions: </strong>This study showcases the complex interplay between common and rare genetic variants in POTS development, marking a pioneering step forward in deciphering its complex etiologies. The insights from this research enrich our understanding of POTS, offering new avenues for precise treatment strategies and highlighting areas for further research.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439990","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
High prevalence of non-syncopal fainting (psychogenic pseudosyncope) in patients referred for recurrent syncope. 复发性晕厥患者非晕厥性晕厥(心因性假性晕厥)发生率高。
IF 3.9 3区 医学
Clinical Autonomic Research Pub Date : 2025-02-18 DOI: 10.1007/s10286-025-01113-z
James A S Muldowney, Luis E Okamoto, Hasan H Sonmezturk, Cyndya A Shibao, Rene Holly, Italo Biaggioni
{"title":"High prevalence of non-syncopal fainting (psychogenic pseudosyncope) in patients referred for recurrent syncope.","authors":"James A S Muldowney, Luis E Okamoto, Hasan H Sonmezturk, Cyndya A Shibao, Rene Holly, Italo Biaggioni","doi":"10.1007/s10286-025-01113-z","DOIUrl":"https://doi.org/10.1007/s10286-025-01113-z","url":null,"abstract":"","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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