Clinical Autonomic Research最新文献

{"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}

{"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}

{"title":"Acknowledgement to Reviewers of 2024.","authors":"","doi":"10.1007/s10286-025-01117-9","DOIUrl":"https://doi.org/10.1007/s10286-025-01117-9","url":null,"abstract":"","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440055","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}

{"title":"Comparison of the effectiveness and safety between ramicotomy and sympathetic chain interruption in the treatment of primary hyperhidrosis: a meta-analysis.","authors":"Sheng Yong, Xiaotong Yang, Wei Cao, Weirun Min, Yunjiu Gou","doi":"10.1007/s10286-025-01115-x","DOIUrl":"https://doi.org/10.1007/s10286-025-01115-x","url":null,"abstract":"<p><strong>Objective: </strong>This meta-analysis evaluates the effectiveness and safety of ramicotomy versus sympathetic chain interruption (SCI) in treating primary hyperhidrosis (PH).</p><p><strong>Methods: </strong>A comprehensive literature search was conducted across multiple databases, including PubMed, Embase, Web of Science, Ovid, Cochrane Library, CNKI, and Wanfang, covering studies from their inception through October 2024. A total of 10 studies involving 970 patients were included, with 504 patients undergoing ramicotomy and 466 receiving SCI.</p><p><strong>Results: </strong>The analysis revealed that patients undergoing ramicotomy experienced significantly lower rates of compensatory hyperhidrosis (CH) [odds ratio (OR) 0.41, 95% confidence interval (CI) 0.20-0.85, P = 0.02], severe CH (OR 0.17, 95% CI 0.06, 0.47, P < 0.001), and postoperative hand dryness (OR 0.10, 95% CI 0.01-0.72, P = 0.02), along with a higher recurrence rate (OR 4.03, 95% CI 2.38, 6.85, P < 0.001). No significant differences were observed in operative duration [mean difference (MD) = 0.19, 95% CI -18.23, 18.60, P = 0.98 > 0.05], length of hospital stay (MD = -0.08, 95% CI -0.19, 0.04, P = 0.20 > 0.05), total postoperative complications (OR 0.41, 95% CI 0.07, 2.34, P = 0.32 > 0.05), or surgical satisfaction (OR 0.93, 95% CI 0.45, 1.91, P = 0.83 > 0.05).</p><p><strong>Conclusions: </strong>While ramicotomy results in lower incidences of CH and postoperative hand dryness, its higher recurrence rate suggests that its application should be cautious to manage PH effectively.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188430","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}

{"title":"Chronic autonomic symptom burden in long-COVID: a follow-up cohort study.","authors":"Ella F Eastin, Jannika V Machnik, Lauren E Stiles, Nicholas W Larsen, Jordan Seliger, Linda N Geng, Hector Bonilla, Phillip C Yang, Mitchell G Miglis","doi":"10.1007/s10286-025-01111-1","DOIUrl":"https://doi.org/10.1007/s10286-025-01111-1","url":null,"abstract":"<p><strong>Purpose: </strong>Autonomic dysfunction is a common and often debilitating feature of long-COVID (LC), however, studies evaluating frequency and severity of chronic autonomic dysfunction in LC are limited. We utilized an established online cohort of participants with LC to assess duration and severity of autonomic dysfunction, impact on quality of life, risk factors of autonomic diagnoses including postural tachycardia syndrome (POTS), and efficacy of common treatments.</p><p><strong>Methods: </strong>Our international cohort included 526 adults with LC aged 20-65 years who previously completed baseline evaluations of LC symptoms, autonomic symptom burden, and quality of life. Participants repeated survey instruments and completed new instruments assessing risk factors and symptom mitigation strategies. A subset of individuals completed a 10-min active stand test. Multivariable logistic regression identified predictors of autonomic symptom burden and incident autonomic diagnoses including POTS.</p><p><strong>Results: </strong>A total of 71.9% of participants with LC had a Composite Autonomic Symptom Score-31 (COMPASS-31) score ≥ 20, suggestive of moderate-to-severe autonomic dysfunction. The median symptom duration was 36 [30-40] months, and 37.5% of participants could no longer work or had to drop out of school due to their illness. In addition, 40.5% of individuals with autonomic dysfunction were newly diagnosed with POTS, representing 33% of the total LC cohort. Female sex and joint hypermobility were associated with an increased risk of autonomic dysfunction.</p><p><strong>Conclusions: </strong>Evidence of chronic moderate-to-severe autonomic dysfunction was seen in most participants with LC in our cohort and was significantly associated with reduced quality of life and functional disability. POTS was the most common post-COVID autonomic diagnosis.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":""},"PeriodicalIF":3.9,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188418","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}

{"title":"Sphenopalatine ganglion stimulation for the treatment of cerebrovascular ischemia.","authors":"Juan Manuel Marquez-Romero, Karen Itzel Sánchez-Ramírez","doi":"10.1007/s10286-024-01085-6","DOIUrl":"10.1007/s10286-024-01085-6","url":null,"abstract":"<p><strong>Purpose: </strong>The parasympathetic effects of the sphenopalatine ganglion (SPG) on the cerebral vasculature provide a compelling rationale for its therapeutic application in cerebrovascular ischemia. In recent years, attempts have been made to stimulate the SPG to achieve beneficial effects on cerebral circulation.</p><p><strong>Methods: </strong>This review synthesizes the available publications on SPG stimulation. It critically evaluates the evidence from preclinical studies and clinical trials to assess its potential as a treatment for acute cerebrovascular disorders and outlines aspects that still require more study.</p><p><strong>Results: </strong>The medical literature provides consistent evidence of the significant effects of stimulating the SPG on cerebrovascular circulation. In addition, considerable evidence supports the therapeutic role of SPG stimulation in patients with cerebral ischemia.</p><p><strong>Conclusion: </strong>Given the current understanding, future research could explore the potential of SPG stimulation as a non-reperfusion intervention to improve long-term outcomes for individuals with ischemic cerebrovascular conditions.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":"31-43"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845795","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}

{"title":"Mesenteric blood flow and muscle sympathetic nerve activity during vasovagal syncope.","authors":"D L Jardine, R Pointon, C Frampton, I Wright, T Buckenham, J Stewart","doi":"10.1007/s10286-024-01068-7","DOIUrl":"10.1007/s10286-024-01068-7","url":null,"abstract":"<p><strong>Purpose: </strong>Vasovagal syncope is thought to be mediated by a progressive fall in cardiac output secondary to venous pooling of blood in the splanchnic circulation. How and when this occurs before syncope has not been determined.</p><p><strong>Methods: </strong>A total of 20 patients who became hypotensive during head-up tilt (age 40.9 ± 3.4 years; 10 females) were divided into two groups-the glyceryl trinitrate (GTN) group (n = 12) and the vasovagal syncope (VVS) group (n = 8) - on the basis of whether or not nitroglycerine provocation was required. They were compared with a control group (age 38.6 ± 3.3; 8 females; n = 13). Hemodynamics, including superior mesenteric artery blood flow (SMABF) and muscle sympathetic nerve activity (MSNA) were recorded continuously during early tilt, presyncope and recovery. We used pixel-weighting to calculate average velocity from the pulsed Doppler velocity envelope.</p><p><strong>Results: </strong>During baseline and early tilt, resistance to mesenteric blood flow was lower in the VVS group: 0.30 ± 0.02 to 0.30 ± 0.02 mmHg/ml/min versus controls 0.30 ± 0.03 to 0.38 ± 0.04 mmHg/ml/min (p = 0.05). During presyncope, as blood pressure and stroke volume gradually fell, SMABF was higher in the VVS group, falling from 370 ± 46 to 248 ± 35 ml/min, versus controls, falling from 342 ± 51 to 233 ± 19 (p = 0.03). At this time, MSNA was lower in the VVS group than controls: 39 ± 4 to 34 ± 3 bursts/min versus 45 ± 2 to 48 ± 3 (p = 0.001).</p><p><strong>Conclusion: </strong>During presyncope, increased splanchnic blood flow may pool more blood in capacitance vessels resulting in decreased venous return and cardiac output. This may be secondary to decreased vasoconstrictor sympathetic activity.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":"45-57"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459348","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}

{"title":"Normative data on measures of cardiovascular autonomic neuropathy and the effect of pretest conditions in a large Danish non-diabetic CVD-free population from the Lolland-Falster Health Study.","authors":"Christian S Hansen, Marie Mathilde Bjerg Christensen, Dorte Vistisen, Randi Jepsen, Christina Ellervik, Marit Eika Jørgensen, Jesper Fleischer","doi":"10.1007/s10286-024-01069-6","DOIUrl":"10.1007/s10286-024-01069-6","url":null,"abstract":"<p><strong>Purpose: </strong>Cardiovascular autonomic neuropathy (CAN) is a common diabetic complication associated with excess morbidity and mortality. CAN is also seen in conditions such as Parkinson's disease. Normative reference data for cardiovascular autonomic function are used to stratify individuals into those with and without CAN. However, reference thresholds for both cardiovascular autonomic reflex tests (CARTs) and heart rate variability (HRV) are scarce and based on small sample sizes. The aim of the study was to establish contemporary normative reference thresholds based on a large non-diabetic population free of cardiovascular disease (CVD).</p><p><strong>Methods: </strong>Cardiovascular autonomic function, CARTs and 5-min HRV indices were assessed in individuals without diabetes and CVD from the Lolland-Falster Health Study (2018-2020) by applying the point-of-care device Vagus™. Age-specific normative reference thresholds were estimated by using log-transformed quantile regression models at the 5th and 10th percentile, with adjustments made for sex. Models assessing the association between age and HRV indices were further adjusted for heart rate.</p><p><strong>Results: </strong>We present age-specific normative reference thresholds for cardiovascular autonomic function, including CARTs and HRV, for 875 individuals (48% females) aged 15-85 years. The reference thresholds are presented for both the 5th and 10th lower percentile. Higher age was inversely associated with all outcomes. Females tended to have a higher parasympathetic drive compared to males. Pre-test conditions did not affect CARTs significantly.</p><p><strong>Conclusions: </strong>The presented age-related normative reference thresholds for both CARTs and HRV indices based on a large Danish cohort may facilitate improved quality of research and treatment.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":"101-113"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The cardiac, vasomotor and myocardial branches of the baroreflex in hypotension: indications of reduced venous return to the heart.","authors":"Gustavo A Reyes Del Paso, Casandra I Montoro, Dmitry M Daydov, Stefan Duschek","doi":"10.1007/s10286-024-01076-7","DOIUrl":"10.1007/s10286-024-01076-7","url":null,"abstract":"<p><strong>Purpose: </strong>Alterations of autonomic cardiovascular control are implicated in the origin of chronic low blood pressure (BP) (hypotension), but comprehensive analysis of baroreflex function is still lacking. This study explored baroreflex function in its cardiac, vascular and myocardial branches METHODS: Continuous BP was recorded at rest and during a mental arithmetic task in 40 hypotensive and 40 normotensive participants. Assessed cardiovascular variables included stroke volume (SV) (calculated by the Modelflow method), heart rate (HR), cardiac output (CO), total peripheral resistance (TPR) and heart rate variability (HRV). Baroreflex sensitivity (BRS) was calculated using the spontaneous sequence method.</p><p><strong>Results: </strong>Hypotensive participants exhibited greater BRS in the three baroreflex branches, in addition to lower SV, HR and CO and higher HRV and TPR. Reactivity for BP, HRV and CO during the stress task was reduced in hypotensive individuals. The greater cardiac BRS can explain the lower HR and higher HRV observed in hypotension, suggestive of increased vagal cardiac influences. The higher vasomotor BRS may contribute to the greater TPR observed in the hypotensive participants. Abnormal associations between myocardial BRS and SV arose, suggesting aberrant autonomic control of myocardial contractility in hypotension.</p><p><strong>Conclusion: </strong>The results indicate that hemodynamic deficits in hypotension are related to preload factors, probably triggered by hypovolemia and reduced unstressed blood reserves, resulting in lower venous return, ventricular preload and SV. In contrast, afterload mechanisms seem to work appropriately.</p>","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":"87-99"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11937168/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142459350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of obesity in an individual with ROHHAD syndrome with semaglutide 2.4 mg/week: a case report.","authors":"Jean-Baptiste Bonnet, Clotilde Ramillon-Cury, Sarah Tournayre, Ariane Sultan, Antoine Avignon","doi":"10.1007/s10286-024-01072-x","DOIUrl":"10.1007/s10286-024-01072-x","url":null,"abstract":"","PeriodicalId":10168,"journal":{"name":"Clinical Autonomic Research","volume":" ","pages":"153-156"},"PeriodicalIF":3.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142342681","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}