Clinical autonomic research : official journal of the Clinical Autonomic Research Society最新文献

{"title":"Cerebral cortical-autonomic connectivity in newborns: a first step to determine the autonomic signatures with advancing age?","authors":"Debra E Weese-Mayer, Renato Gonik","doi":"10.1007/s10286-021-00807-4","DOIUrl":"https://doi.org/10.1007/s10286-021-00807-4","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"359-360"},"PeriodicalIF":5.8,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-021-00807-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39001427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: A 20-year evolution of cardiac performance in microgravity in a male astronaut.","authors":"Ulrich Limper, Stefan Moestl, Jens Tank, Gordon K Prisk, Karsten Heusser, Fabian Hoffmann, Axel Goßmann, Pierre-François Migeotte, Peter Gauger, Luis E J Beck, Hans W Schlegel, Benjamine D Levine, Jens Jordan","doi":"10.1007/s10286-020-00739-5","DOIUrl":"https://doi.org/10.1007/s10286-020-00739-5","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"143"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00739-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38651120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Orthostatic responses in Caucasian, South Asian, and Middle Eastern women.","authors":"Niyousha Tanbakouie, Karim Habib, Heather Edgell","doi":"10.1007/s10286-021-00778-6","DOIUrl":"https://doi.org/10.1007/s10286-021-00778-6","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"131-133"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-021-00778-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25337890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reflections on the past three decades of high-altitude exercise research and the autonomic nervous system.","authors":"Otto Appenzeller","doi":"10.1007/s10286-020-00754-6","DOIUrl":"https://doi.org/10.1007/s10286-020-00754-6","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"31-33"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00754-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38782014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency and burden of gastrointestinal symptoms in familial dysautonomia.","authors":"Chethan Ramprasad,&nbsp;Lucy Norcliffe-Kaufmann,&nbsp;Jose-Alberto Palma,&nbsp;Joseph Levy,&nbsp;Yian Zhang,&nbsp;Christy L Spalink,&nbsp;Abraham Khan,&nbsp;Scott Smukalla,&nbsp;Horacio Kaufmann,&nbsp;Lea Ann Chen","doi":"10.1007/s10286-020-00735-9","DOIUrl":"https://doi.org/10.1007/s10286-020-00735-9","url":null,"abstract":"<p><strong>Purpose: </strong>Familial dysautonomia (FD) is a rare hereditary sensory and autonomic neuropathy (HSAN-3) that is clinically characterized by impaired pain and temperature perception and abnormal autonomic function. Patients with FD have gastrointestinal dysmotility and report a range of gastrointestinal symptoms that have yet to be systematically evaluated. The aim of this study was to establish the frequency and severity of gastrointestinal symptoms in patients with FD.</p><p><strong>Methods: </strong>The validated National Institutes of Health Patient-Reported Outcomes Measurement Information System (PROMIS) survey questionnaire, together with additional FD-specific questions, were distributed to 202 living patients with genetically confirmed FD who had been identified from the New York University FD Patient Registry or, when relevant, to their respective caretaker. As a comparison group, we used a general US adult population for whom PROMIS scores were available (N = 71,812).</p><p><strong>Results: </strong>Of the 202 questionnaires distributed, 77 (38%) were returned, of which 53% were completed by the patient. Median age of the respondents was 25 years, and 44% were male. Gastrostomy tube was the sole nutrition route for 25% of the patients, while 53% were reliant on the gastrostomy tube only for liquid intake. The prevalence of gastrointestinal symptoms was significantly higher in each of the eight domains of PROMIS in patients with FD than in the controls. Gastrointestinal symptoms as measured by raw scores on the PROMIS scale were significantly less severe in the FD patient group than in the control population in all domains with the exception of the abdominal pain domain. The surveys completed by caregivers reported the same burden of symptoms as those completed only by patients.</p><p><strong>Conclusion: </strong>Gastrointestinal symptoms affect nearly all patients with FD. Gastrointestinal symptoms are more prevalent in adult patients with FD than in the average US adult population but are less severe in the former.</p>","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"109-116"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00735-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38462108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Three decades of Clinical Autonomic Research and beyond.","authors":"Horacio Kaufmann,&nbsp;Jens Jordan","doi":"10.1007/s10286-020-00762-6","DOIUrl":"https://doi.org/10.1007/s10286-020-00762-6","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"1-3"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00762-6","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38804491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.","authors":"Anna I Wernick,&nbsp;Ronald L Walton,&nbsp;Alexandra I Soto-Beasley,&nbsp;Shunsuke Koga,&nbsp;Michael G Heckman,&nbsp;Rebecca R Valentino,&nbsp;Lukasz M Milanowski,&nbsp;Dorota Hoffman-Zacharska,&nbsp;Dariusz Koziorowski,&nbsp;Anhar Hassan,&nbsp;Ryan J Uitti,&nbsp;William P Cheshire,&nbsp;Wolfgang Singer,&nbsp;Zbigniew K Wszolek,&nbsp;Dennis W Dickson,&nbsp;Phillip A Low,&nbsp;Owen A Ross","doi":"10.1007/s10286-020-00759-1","DOIUrl":"https://doi.org/10.1007/s10286-020-00759-1","url":null,"abstract":"<p><strong>Purpose: </strong>Investigate single nucleotide variants and short tandem repeats in 39 genes related to spinocerebellar ataxia in clinical and pathologically defined cohorts of multiple system atrophy.</p><p><strong>Methods: </strong>Exome sequencing was conducted in 28 clinical multiple system atrophy patients to identify single nucleotide variants in spinocerebellar ataxia-related genes. Novel variants were validated in two independent disease cohorts: 86 clinically diagnosed multiple system atrophy patients and 166 pathological multiple system atrophy cases. Expanded repeat alleles in spinocerebellar ataxia genes were evaluated in 36 clinically diagnosed multiple system atrophy patients, and CAG/CAA repeats in TATA-Box Binding Protein (TBP, causative of SCA17) were screened in 216 clinical and pathological multiple system atrophy patients and 346 controls.</p><p><strong>Results: </strong>No known pathogenic spinocerebellar ataxia single nucleotide variants or pathogenic range expanded repeat alleles of ATXN1, ATXN2, ATXN3, CACNA1A, AXTN7, ATXN8OS, ATXN10, PPP2R2B, and TBP were detected in any clinical multiple system atrophy patients. However, four novel variants were identified in four spinocerebellar ataxia-related genes across three multiple system atrophy patients. Additionally, four multiple system atrophy patients (1.6%) and one control (0.3%) carried an intermediate length 41 TBP CAG/CAA repeat allele (OR = 4.11, P = 0.21). There was a significant association between the occurrence of a repeat length of longer alleles (> 38 repeats) and an increased risk of multiple system atrophy (OR = 1.64, P = 0.03).</p><p><strong>Conclusion: </strong>Occurrence of TBP CAG/CAA repeat length of longer alleles (> 38 repeats) is significantly associated with increased multiple system atrophy risk. This discovery warrants further investigation and supports a possible genetic overlap of multiple system atrophy with SCA17.</p>","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"117-125"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00759-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38865624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and neurohormonal characteristics in African Americans with neurogenic orthostatic hypotension.","authors":"Richard J Giza,&nbsp;Maureen C Farrell,&nbsp;Amy C Arnold,&nbsp;Italo Biaggioni,&nbsp;Cyndya A Shibao","doi":"10.1007/s10286-020-00764-4","DOIUrl":"https://doi.org/10.1007/s10286-020-00764-4","url":null,"abstract":"<p><strong>Purpose: </strong>Neurogenic orthostatic hypotension (nOH) is the hallmark of neurodegenerative forms of autonomic failure, including pure autonomic failure, multiple system atrophy, and Parkinson's disease. Studies have shown autonomic physiological differences in Africans Americans (AA) such as lower heart rate variability, enhanced blood pressure reactivity, and blunted sympathetic neural response compared to non-Hispanic whites. However, the clinical characteristics and neurohormonal profile of autonomic failure in AA is unknown.</p><p><strong>Methods: </strong>A total of 65 patients with nOH participated in this study (9 AA and 56 non-Hispanic whites). Both groups were of similar age and comorbidity status, and they underwent standardized autonomic testing and assessment of neurohormonal levels and renin activity and aldosterone in supine and upright positions.</p><p><strong>Results: </strong>There were no significant differences in baseline autonomic clinical characteristics between non-Hispanic whites and AA with nOH. Non-Hispanic whites demonstrated a significant increase in upright renin activity compared to AA (295 ± 88% vs. 13 ± 13%, respectively). AA showed a blunted increase in aldosterone compared to non-Hispanic whites (188 ± 27% vs. 59 ± 38%, respectively). These results indicated persistent suppression of the renin-angiotensin system in AA, particularly during upright posture.</p><p><strong>Conclusion: </strong>Our findings demonstrate that AA with nOH have similar clinical characteristics and hemodynamic autonomic profiles, but lower upright renin activity and aldosterone levels, compared to non-Hispanic whites. Renin suppression persists in AA with severe autonomic failure and can potentially contribute to postural changes and supine hypertension.</p>","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"101-107"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00764-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38865702","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastrointestinal dysfunction in the synucleinopathies.","authors":"Kathryn A Chung,&nbsp;Ronald F Pfeiffer","doi":"10.1007/s10286-020-00745-7","DOIUrl":"https://doi.org/10.1007/s10286-020-00745-7","url":null,"abstract":"<p><p>Interest in gastrointestinal dysfunction in Parkinson's disease has blossomed over the past 30 years and has generated a wealth of investigation into this non-motor aspect of the disorder, research that has encompassed its pathophysiology, its clinical features, and its impact on quality of life. The question of gastrointestinal dysfunction in the other synucleinopathies has not received nearly as much attention, but information and knowledge are growing. In this review, the current knowledge, controversies, and gaps in our understanding of the pathophysiology of gastrointestinal dysfunction in Parkinson's disease and the other synucleinopathies will be addressed, and extended focus will be directed toward the clinical problems involving saliva management, swallowing, gastric emptying, small intestinal function, and bowel function that are so problematic in these disorders.</p>","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"77-99"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-020-00745-7","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38650398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thirty years of research on autonomic dysfunction, non-motor features, and endophenotypes in Parkinson disease.","authors":"K Ray Chaudhuri","doi":"10.1007/s10286-021-00771-z","DOIUrl":"https://doi.org/10.1007/s10286-021-00771-z","url":null,"abstract":"","PeriodicalId":354493,"journal":{"name":"Clinical autonomic research : official journal of the Clinical Autonomic Research Society","volume":" ","pages":"37-39"},"PeriodicalIF":5.8,"publicationDate":"2021-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s10286-021-00771-z","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25311206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}