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Background: Idiopathic REM sleep behavior disorder (iRBD) is a prodromal marker of the alpha-synucleinopathies, in which autonomic nervous system (ANS) involvement may occur. We aimed to characterize the presence and severity of subjective and objective ANS dysfunction in iRBD and assess its capacity to predict short-term clinical progression to a synucleinopathy. Methods: Prospective study of patients with polysomnography-confirmed iRBD in whom symptomatic ANS involvement was assessed using the Composite Autonomic Symptom Score (COMPASS-31) and objective dysfunction with the Composite Autonomic Severity Score (CASS). Baseline ANS data were compared between those who later developed a synucleinopathy and those who did not. Results: We evaluated 25 subjects with iRBD without risk factors for autonomic neuropathy and at least 6 months of follow-up (mean: 19 months). At the end of the study, seven (28%) patients developed a synucleinopathy, namely Parkinson's disease (n = 5) and dementia with Lewy bodies (n = 2). 73.7% of patients had COMPASS-31 scores above the normal cut-off, while no score differences regarding phenoconversion status were observed. At baseline, 85.7% of the subjects who phenoconverted exhibited at least one abnormal result in the CASS score, compared to 38.9% of subjects who remained disease-free (p = 0.035). Adrenergic dysfunction evaluated by an impaired overshoot in Valsalva phase IV and by pressure recovery time was associated with the development of overt synucleinopathy (p = 0.032 and 0.033, respectively). Conclusion: Symptomatic and subclinical ANS dysfunctions are common in iRBD. ANS dysfunction affecting mainly the adrenergic system seems to be a short-term risk for the development of a synucleinopathy. [ABSTRACT FROM AUTHOR]

Adolescent obesity can impair cardiopulmonary function, vascular elasticity, endothelial function, and vago‐sympathetic balance. While moderate‐intensity continuous training (MICT) benefits cardiovascular health in obese adolescents, the effects of high‐intensity interval training (HIIT) are less understood. We hypothesize that HIIT may be more effective than MICT in improving VO2peak, vascular elasticity, endothelial function, and vago‐sympathetic balance in obese adolescent boys. Forty four participants were randomly assigned to the HIIT (10 × 1‐min at 85%–95% peak HR, intersperse with 2‐min active recovery at 60%–70% peak HR) or MICT (35 min at 65%–75% peak HR) for an 8‐week program. The primary outcome measured was the change in VO2peak with secondary outcomes including brachial‐ankle pulse wave velocity (baPWV), flow‐mediated dilation (FMD), and heart rate variability (HRV). Forty four adolescent boys with obesity (age, 14 ± 1 years old, body mass index, 31.6 ± 1.3 kg/m2) were enrolled and 43 (97.73%) completed the 8‐week exercise. No significant difference of VO2peak was found between the HIIT and MICT group (p = 0.243). There was no significant difference of baPWV between the groups (p = 0.789). Change in FMD% was significantly higher in the HIIT group compared to the MICT group (p < 0.001). The Change in HRV‐high frequency (HRV‐HF; p = 0.009) and HRV‐low frequency/high frequency (HRV‐LF/HF; p = 0.035) was significantly higher in the HIIT group compared to the MICT group. Among adolescent boys with obesity, 8‐week HIIT and MICT had similar effects on improving VO2peak. HIIT may be superior to MICT to improve endothelial function and vago‐sympathetic balance. Highlights: High‐Intensity Interval Training (HIIT) and Moderate‐Intensity Continuous Training (MICT) showed similar improvements in VO2peak over the 8‐week program.Specifically, HIIT led to significantly greater improvements in flow‐mediated dilation and heart rate variability, indicating better endothelial function and autonomic nervous system balance compared to MICT.These findings suggest that HIIT may offer additional cardiovascular benefits beyond MICT in adolescent boys with obesity. [ABSTRACT FROM AUTHOR]

Purpose: To investigate the correlation between the autonomic nervous system and choroidal vascularity in patients with central serous chorioretinopathy (CSC), using heart rate variability (HRV) analysis, optical coherence tomography (OCT) and OCT angiography (OCTA). Methods: We retrospectively analyzed data of 25 patients with unilateral CSC (50 eyes, including the unaffected fellow eyes) and 25 healthy controls. The assessment involved a 5-minute HRV analysis encompassing both frequency and time domains, especially low frequency (LF), high frequency (HF), and LF/HF ratio. In OCT (12 × 9 mm) and en-face OCTA (3 × 3 mm) scans, we measured parameters including choroidal vascularity index (CVI), choroidal vessel density in the middle and deep layers, and choriocapillaris flow void. Regression analysis was conducted to elucidate the associations between HRV parameters and OCT/OCTA measurements. Results: Normalized LF(LFnorm) and LF/HF ratios were higher in patients with CSC than in healthy controls. LFnorm and the log-transformed ratio of LF to HF [log(LF/HF)] demonstrated a significant and borderline correlation with CVI in the linear regression analysis (P = 0.040, R2 = 0.171, and P = 0.059, R2 = 0.147, respectively). Both CVI and deep choroid vessel density showed a more significant association with LFnorm and log (LF/HF) in the non-linear quadratic regression analysis than in the linear analysis (all, P < 0.04, R2 > 0.25). Conclusion: The frequency-domain parameters of HRV, including LFnorm and log (LF/HF), demonstrated a significant association with indicators reflective of large choroidal vessel luminal area on macular OCT/OCTA scans. This observation implies complicated modulation of choroidal blood flow by the autonomic nervous system in CSC. Key messages: What is known ● Previous research has established that heightened sympathetic nerve activity can lead to choroidal vessel constriction and is associated with central serous chorioretinopathy (CSC), which exhibits pachychoroid features influenced by psychological stress and autonomic imbalances. What is new ● The study quantifies the effect of sympathetic nervous system hyperactivity on choroidal blood flow in patients with CSC by using heart rate variability (HRV) metrics and correlating these with choroidal blood flow indicators assessed via optical coherence tomography (OCT) and angiography (OCTA). ● HRV parameters indicative of sympathetic activity demonstrated significant linear and quadratic correlations with the choroidal vascularity index and deep choroidal vessel density, reflecting large choroidal vessel luminal areas on OCT and OCTA scans. [ABSTRACT FROM AUTHOR]

Background: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a progressive fatal disorder caused by deposition of mutant transthyretin (TTR) amyloids mainly in the nerves and heart. Autonomic dysfunction is a major disabling manifestation, affecting 90% of patients with late-onset ATTRv-PN. The current study aimed to investigate brain functional alterations associated with dysautonomia due to peripheral autonomic nerve degeneration in ATTRv-PN. Methods: Resting-state functional MRI data were acquired from 43 ATTRv-PN patients predominantly of A97S (p.A117S) genotype, and the functional connectivity of central autonomic regions was assessed. Results: Compared with age-matched healthy controls, the ATTRv-PN patients exhibited (1) reduced functional connectivity of the central autonomic regions such as hypothalamus, amygdala, anterior insula, and middle cingulate cortex with brain areas of the limbic, frontal, and somatosensory systems, and (2) correlations of reduced functional autonomic connectivity with the severity of autonomic dysfunction especially orthostatic intolerance, decreased heart rate variability, and greater clinical disability. Conclusions: Our findings provide evidence linking peripheral autonomic dysfunction with altered connectivity in the central autonomic network in ATTRv-PN. [ABSTRACT FROM AUTHOR]

Introduction: Amyotrophic lateral sclerosis (ALS) is known to be associated with varying degrees of autonomic and cardiovascular dysfunction. Recent case reports showed that ALS may be linked to Takotsubo syndrome (TTS). We assessed the frequency of TTS in an incident ALS cohort from Sardinia, Italy, and investigated the relationship of TTS with ALS course. Methods: We retrospectively examined a 10-year (2010–2019) incident cohort of ALS patients of Sardinian ancestry, reported TTS frequency and patients' clinical characteristics. Following, we checked for TTS among patients with ALS onset after 2019 and focused on the same features as for the incident cohort. Results: Our incident cohort included 344 ALS patients and 5 of them (1.45%) developed TTS. All were female and their median onset age was 71.5 years (IQR 62.75–77). Two patients had spinal and three bulbar onset, though all patients had bulbar involvement and were at an advanced stage of disease (ALSFRS ≤ 25, King's ≥ 3) at TTS diagnosis. We identified a potential TTS trigger in three patients (hospitalization for PEG placement, pneumonia). Among patients who had ALS onset after 2019, we identified a further TTS case and described it. Conclusion: TTS is not a rare condition in ALS. Female sex, bulbar involvement, and later age of disease onset may be important risk factors for developing this cardiac condition and a physical or psychological trigger is often observed. Despite autonomic dysfunction in ALS has been already demonstrated, the precise physiopathological mechanism underlying TTS needs to be further clarified. [ABSTRACT FROM AUTHOR]

Purpose: A blood pressure stabilization during late phase II of Valsalva's maneuver may be utilized to confirm sympathetic vasoconstrictor control after a spinal cord injury. This study investigated whether Valsalva response was predictive of hemodynamics during tilt or isometric handgrip. Methods: Presence/absence of Valsalva response was compared to heart rate, mean arterial pressure, leg blood flow, and vascular resistance during head-up tilt and isometric handgrip to fatigue in 14 adults with spinal cord injury from C7 to T12 and 14 controls. Statistics were performed with two-way repeated measure analysis of variance (ANOVA), post hoc t-tests for between-group comparisons, and Mann–Whitney U tests for within-group. Results: In total, six participants with spinal cord injury lacked a blood pressure stabilization for Valsalva's maneuver. However, this was not related to vasoconstrictor responses during the other tests. The groups had similar heart rate and blood pressure changes during tilt, though leg blood flow decreases and vascular resistance increases tended to be smaller at 20° tilt in those with spinal cord injury (p = 0.07 and p = 0.11, respectively). Participants with spinal cord injury had lower heart rates and markedly smaller blood pressure increases during handgrip (both p < 0.05). There were no group differences in leg blood flow, but those with spinal cord injury demonstrated a blunted vascular resistance increase by the final 10% of the handgrip (p < 0.01). Conclusions: Valsalva response was not consistent with hemodynamics during other stimuli, but some individuals evidence increases in sub-lesional vascular resistance to isometric handgrip comparable to controls, suggesting a sympathoexcitatory stimulus may be critical to provoke hemodynamic responses after spinal cord injury. [ABSTRACT FROM AUTHOR]

Background: There is a well-known comorbidity between chronic obstructive pulmonary disease (COPD) and coronary artery disease (CAD) which is only partially explained by common risk factors. Markers of cardiovascular autonomic dysfunction (CVAD), such as orthostatic hypotension and increased resting heart rate, are strongly associated with CAD. The autonomic nervous system also innervates the airways, and several studies have shown an association between autonomic dysfunction and COPD. However, less is known about whether CVAD and impairment of respiratory capacity are related in the population. We thus aimed to assess the relationship between markers of subtle CVAD and lung function in middle-aged subjects. Methods: In this cross-sectional study, we analysed data from CVAD assessment (orthostatic blood pressure and heart rate measurements) and pulmonary function tests from 5886 individuals from the Swedish CArdioPulmonary bioImage Study (SCAPIS). Subjects were middle aged and randomly selected from the Swedish population. Linear regression models and ANOVA analyses were used to relate orthostatic blood pressure and resting heart rate to lung function parameters (forced vital capacity (FVC), forced expiratory volume in one second (FEV1), FEV1/FVC-ratio, diffusion capacity for carbon monoxide (DLCO), respiratory resistance at 5 Hz (R5), respiratory resistance at 20 Hz (R20), decrease in resistance from R5 to R20 (R5-R20), reactance in distal airways (X5), resonant frequency (Fres) and reactance area (AX)). Results: Increasing systolic orthostatic blood pressure, decreasing diastolic orthostatic blood pressure, and increased resting heart rate associated with lower FVC (all p < 0.001) and FEV1 (p = 0.001; p = 0.005; p < 0.001, respectively) in models including age, sex and height. Apart from diastolic orthostatic blood pressure and FEV1, all relationships remained significant after adjustment for possible confounders. Increased resting heart rate was associated with reduced DLCO (p < 0.001). Conclusions: Increasing systolic orthostatic blood pressure, decreasing diastolic orthostatic blood pressure, and increased resting heart rate are associated with lower lung function, after adjustments for age, sex and height. These finding indicates associations between signs of cardiovascular autonomic dysfunction and lower lung function in the general population. However, the observed differences in lung function were small and the clinical application is unclear. [ABSTRACT FROM AUTHOR]

Type 2 diabetes mellitus (T2DM) is one of the most significant health issues worldwide, with associated healthcare costs estimated to surpass USD 1054 billion by 2045. The leading cause of death in T2DM patients is the development of cardiovascular disease (CVD). In the early stages of T2DM, patients develop cardiovascular autonomic dysfunction due to the withdrawal of cardiac parasympathetic activity. Diminished cardiac parasympathetic tone can lead to cardiac arrhythmia-related sudden cardiac death, which accounts for 50% of CVD-related deaths in T2DM patients. Regulation of cardiovascular parasympathetic activity is integrated by neural circuitry at multiple levels including afferent, central, and efferent components. Efferent control of cardiac parasympathetic autonomic tone is mediated through the activity of preganglionic parasympathetic neurons located in the cardiac extensions of the vagus nerve that signals to postganglionic parasympathetic neurons located in the intracardiac ganglia (ICG) on the heart. Postganglionic parasympathetic neurons exert local control on the heart, independent of higher brain centers, through the release of neurotransmitters, such as acetylcholine. Structural and functional alterations in cardiac parasympathetic postganglionic neurons contribute to the withdrawal of cardiac parasympathetic tone, resulting in arrhythmogenesis and sudden cardiac death. This review provides an overview of the remodeling of parasympathetic postganglionic neurons in the ICG, and potential mechanisms contributing to the withdrawal of cardiac parasympathetic tone, ventricular arrhythmogenesis, and sudden cardiac death in T2DM. Improving cardiac parasympathetic tone could be a therapeutic avenue to reduce malignant ventricular arrhythmia and sudden cardiac death, increasing both the lifespan and improving quality of life of T2DM patients. [ABSTRACT FROM AUTHOR]

Objective: Mitral valve prolapse (MVP) is a widespread valvulopathy present in 2–6% of the population, affecting more than 170 million people globally. The objective of this study was to assess P wave dispersion (PWD) in patients with MVP to identify the presence of cardiovascular autonomic dysfunction and the potential risk of developing atrial arrhythmias in these patients. Materials and Methods: The study included 40 healthy control participants (Group 1), 41 patients with non-classic MVP (Group 2), and 36 patients with classic MVP (Group 3). Demographic and clinical characteristics were documented upon admission. An electrocardiographic assessment was conducted to quantify PWD values for both patients and the control group. Results: The minimum P wave duration was lower in classic MVP patients than in controls and non-classic MVP patients (63±3.6 vs. 70±2.0, p<0.001; 63±3.6 vs. 63±3.6, p<0.001, respectively). P wave dispersion was higher in classic MVP patients than in non-classic MVP patients (47.3±3.2 vs. 39.0±2.3, p=0.001). A significant positive correlation was detected between PWD and maximum P wave duration (Pmax), minimum P wave duration (Pmin), maximal leaflet displacement, maximal leaflet thickness, and left atrial diameter (LAD) (r=0.723, p<0.001; r=- 0.771, p<0.001; r=0.557, p<0.001; r=0.770, p<0.001; r=0.517, p<0.001, respectively). Maximum leaflet thickness and maximum leaflet displacement were independent predictors of increased PWD in linear regression analysis (β=1.456, p<0.001, β=-0.851, p<0.001). Conclusion: Patients with classic MVP exhibited prolonged PWD values compared with non-classic MVP patients and normal controls. [ABSTRACT FROM AUTHOR]

Background: Common headache disorders, including tension-type migraines and cluster headaches, are related to malfunctions of the autonomic nervous system (ANS). Many autonomic signs of migraines aggravate the discomfort of the episode. Understanding the function and comorbidities of migraine patients depends on tests for assessing the cardiovascular autonomic responsiveness of the ANS. Aims and Objectives: The aim and objective of this study is to evaluate the use of cardiovascular reflex testing in adults with chronic migraine and healthy controls. Investigating inflammatory markers in individuals suffering from chronic migraines and controls. Materials and Methods: Thirty healthy controls and 30 people suffering from persistent migraines were part of the research. Cardiovascular reflex tests were performed. Inflammatory markers such as tumor necrosis factor-alpha (TNF-α), interleukin (IL)-1, and IL-10 were also evaluated. SPSS edition 21 was used for the statistical analysis. For parameters with normal and atypical distributions, the Mann--Whitney test and the unpaired t-test, respectively, were used. Results: Among 30 subjects, testing for autonomic reactivity related to chronic migraines revealed significantly lower values than those for control. Patients with chronic migraines had far more inflammatory markers, including TNF-α, IL-1, and IL-10. Conclusions: Revealing autonomic dysfunction, the group with chronic migraines had a lower parasympathetic tone and sympathoexcitation than the healthy control group. Future studies should concentrate on ANS dysfunction as a biomarker for early warning signals for drug intake and migraine control. [ABSTRACT FROM AUTHOR]

Background: Chronic fatigue syndrome (CFS) is a complex multisystem disease that affects around 1 million of the Indian population every year and is characterized by persistent fatigue. CFS is related to cardiovascular illness, and cardiovascular autonomic nervous system dysfunction is often seen. We investigated the state of cardiac autonomic function in CFS and associated it with their level of inflammatory markers and disease severity since there is not much research on the subject. Aims and Objectives: The objective of this study is to evaluate cardiac autonomic functions by using heart rate variability (HRV) in patients with CFS and in healthy controls. The study aimed to evaluate the correlation between HRV and inflammatory markers in patients with CFS and in healthy controls. Materials and Methods: Thirty controls and 30 diagnosed cases of CFS were used in the research. The short-term variability of heart rate was used to measure autonomic function. We measured tumor necrosis factor-alpha (TNF-α) and interleukin (IL-10) in 3 mL of overnight fasting serum. TNF-α and IL-10 were used to evaluate the severity of CFS. Results: Patients with CFS showed a substantial reduction in low frequency (LF) (P=0.00*), high frequency (HF) (P=0.00*), LF/HF ratio (P=0.00*), and time domain parameters of HRV, namely RMSSD (P=0.03*), SDNN (P=0.00*), NN50 (P=0.00*) and total power (P=0.00*). Patients with CFS had considerably higher levels of TNF-α. TNF-α and LF/HF ratio and RMSSD, NN50, and HF were shown to have a substantially favorable correlation. Conclusions: Our research indicates a substantial correlation between autonomic dysfunction and inflammatory activity, as well as the severity of CFS. Therefore, we suggest that HRV might be a useful technique for accurately screening CFS patients for autonomic disruption symptoms early on, which can significantly lower morbidity and death in the future. [ABSTRACT FROM AUTHOR]

Hypoglycemia in the absence of diabetes is often multifactorial and challenging to diagnose definitively. We present a case report and an expanded series of adult females with reactive hypoglycemia who were diagnosed with Ehlers-Danlos syndrome (EDS). These patients exhibited predominantly postprandial hypoglycemia, with some fasting and activity-induced episodes. Clinical findings included autonomic dysfunction, gastrointestinal symptoms, and joint hypermobility. Interventions focused on medical nutrition therapy, continuous glucose monitoring, and, in some cases, medication. Many patients continued to experience hypoglycemic episodes despite treatment. Key learning points include the potential association between hypermobile EDS and hypoglycemia, the importance of confirming the Whipple triad, and the need for multidisciplinary management. This case series highlights the need for further research into the prevalence and pathophysiology of hypoglycemia in EDS. [ABSTRACT FROM AUTHOR]

Abstract Background There is a well-known comorbidity between chronic obstructive pulmonary disease (COPD) and coronary artery disease (CAD) which is only partially explained by common risk factors. Markers of cardiovascular autonomic dysfunction (CVAD), such as orthostatic hypotension and increased resting heart rate, are strongly associated with CAD. The autonomic nervous system also innervates the airways, and several studies have shown an association between autonomic dysfunction and COPD. However, less is known about whether CVAD and impairment of respiratory capacity are related in the population. We thus aimed to assess the relationship between markers of subtle CVAD and lung function in middle-aged subjects. Methods In this cross-sectional study, we analysed data from CVAD assessment (orthostatic blood pressure and heart rate measurements) and pulmonary function tests from 5886 individuals from the Swedish CArdioPulmonary bioImage Study (SCAPIS). Subjects were middle aged and randomly selected from the Swedish population. Linear regression models and ANOVA analyses were used to relate orthostatic blood pressure and resting heart rate to lung function parameters (forced vital capacity (FVC), forced expiratory volume in one second (FEV1), FEV1/FVC-ratio, diffusion capacity for carbon monoxide (DLCO), respiratory resistance at 5 Hz (R5), respiratory resistance at 20 Hz (R20), decrease in resistance from R5 to R20 (R5-R20), reactance in distal airways (X5), resonant frequency (Fres) and reactance area (AX)). Results Increasing systolic orthostatic blood pressure, decreasing diastolic orthostatic blood pressure, and increased resting heart rate associated with lower FVC (all p

Background: Chronic fatigue syndrome (CFS) is a complex multisystem disease that affects around 1 million of the Indian population every year and is characterized by persistent fatigue. CFS is related to cardiovascular illness, and cardiovascular autonomic nervous system dysfunction is often seen. We investigated the state of cardiac autonomic function in CFS and associated it with their level of inflammatory markers and disease severity since there is not much research on the subject. Aims and Objectives: The objective of this study is to evaluate cardiac autonomic functions by using heart rate variability (HRV) in patients with CFS and in healthy controls. The study aimed to evaluate the correlation between HRV and inflammatory markers in patients with CFS and in healthy controls. Materials and Methods: Thirty controls and 30 diagnosed cases of CFS were used in the research. The short-term variability of heart rate was used to measure autonomic function. We measured tumor necrosis factor-alpha (TNF-α) and interleukin (IL-10) in 3 mL of overnight fasting serum. TNF-α and IL-10 were used to evaluate the severity of CFS. Results: Patients with CFS showed a substantial reduction in low frequency (LF) (P=0.00*), high frequency (HF) (P=0.00*), LF/HF ratio (P=0.00*), and time domain parameters of HRV, namely RMSSD (P=0.03*), SDNN (P=0.00*), NN50 (P=0.00*) and total power (P=0.00*). Patients with CFS had considerably higher levels of TNF-α. TNF-α and LF/HF ratio and RMSSD, NN50, and HF were shown to have a substantially favorable correlation. Conclusions: Our research indicates a substantial correlation between autonomic dysfunction and inflammatory activity, as well as the severity of CFS. Therefore, we suggest that HRV might be a useful technique for accurately screening CFS patients for autonomic disruption symptoms early on, which can significantly lower morbidity and death in the future.

Background: Common headache disorders, including tension-type migraines and cluster headaches, are related to malfunctions of the autonomic nervous system (ANS). Many autonomic signs of migraines aggravate the discomfort of the episode. Understanding the function and comorbidities of migraine patients depends on tests for assessing the cardiovascular autonomic responsiveness of the ANS. Aims and Objectives: The aim and objective of this study is to evaluate the use of cardiovascular reflex testing in adults with chronic migraine and healthy controls. Investigating inflammatory markers in individuals suffering from chronic migraines and controls. Materials and Methods: Thirty healthy controls and 30 people suffering from persistent migraines were part of the research. Cardiovascular reflex tests were performed. Inflammatory markers such as tumor necrosis factor-alpha (TNF-α), interleukin (IL)-1, and IL-10 were also evaluated. SPSS edition 21 was used for the statistical analysis. For parameters with normal and atypical distributions, the Mann–Whitney test and the unpaired t-test, respectively, were used. Results: Among 30 subjects, testing for autonomic reactivity related to chronic migraines revealed significantly lower values than those for control. Patients with chronic migraines had far more inflammatory markers, including TNF-α, IL-1, and IL-10. Conclusions: Revealing autonomic dysfunction, the group with chronic migraines had a lower parasympathetic tone and sympathoexcitation than the healthy control group. Future studies should concentrate on ANS dysfunction as a biomarker for early warning signals for drug intake and migraine control.

INTRODUCTION: Autonomic dysfunction is common in α-synucleinopathies such as Lewy Body dementias (LBD), Parkinsons disease (PD), and isolated REM Sleep Behavior Disorder (iRBD). We analyzed pulse-rate changes during sleep to index autonomic nervous system (ANS) dysfunction in patients with α-synucleinopathies vs. non-synucleinopathy groups expected to have normal ANS function. METHODS: Patients with LBD (n = 16), PD (PD, n = 14) or iRBD (n = 12) were compared to the non-synucleinopathy groups Alzheimers disease dementia (ADem, n = 26), mild cognitive impairment (MCI, n = 34) or controls (CG, n = 54). Sleep Profiler was used to derive a sleep autonomic activation index (AAI), i.e., ≥6 beat-per-minute increase/decrease, pulse rate coefficient of variation (PR-CV), and automated sleep staging with sleep-spindles and non-REM hypertonia (NRH). Analysis included statistical group comparisons and receiver operating characteristics curves to determine optimal classification of groups. RESULTS: AAI and PR-CV were moderately correlated across all recordings (rs = 0.58, P

Abstract Background Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been suggested. The objective of the present study was to investigate the dynamics of the autonomic activity up to, during, and in the time after individual attacks. We include all seven suitable CLN3 patients in Denmark ≥ 15 years of age. HRV parameters were assessed from continuous heart rate monitoring during seven consecutive days and a particular focus of HRV parameters was obtained in close temporal context to clinically recurrent PSH-like episodes. In addition, the likelihood of PSH was assessed by caregiver’s description and by video documentation. Results Respectively eight and five episodes were recorded in two patients (18 and 20 years of age). The episodes were all safely superior to the cut off values of the clinical assessment score to be considered PSH-like episodes. During all 13 episodes, HRV revealed a statistically significant decrease in root mean square of successive differences (RMSSD) and standard deviation of the Poincaré-Plot interval (SD1) in the minutes prior to the clinical onset of the episodes, both indicating a sudden decrease in parasympathetic activity in advance of the onset. The reduced activity remained low during the episodes, and 15–30 min following the attack cessation, the parasympathetic activity had returned to pre-attacks levels. The sympathetic HRV parameters were unchanged resulting in a sympathetic overactivity during the episodes. In a third participant (32 years of age), in whom severity of PSH-like episodes had been gradually reduced during the last years, five episodes were registered. A similar temporally related reduction of the parasympathetic activity was found, but because the sympathetic activity decreased as well, no sympathetic dominance developed, which most reasonable is the reason to the clinically reduced expression of the episodes. Conclusion The documented transient withdrawal of parasympathetic activity leading to a paroxysmal unbalanced sympathetic hyperactivity most probably accounts for the PSH-like episodes occurring in post-adolescent CLN3 patients. The findings shed new light on both aetiology and possible preventative and therapeutic measures.

Shruti Handa,1 Megan R Heffernan,2 Summer Tan,3 David A Keith,1 Annika Rosén,4– 6 Hsinlin Thomas Cheng7 1Division of Oral and Maxillofacial Surgery, Department of Surgery, Massachusetts General Hospital and Harvard School of Dental Medicine, Boston, MA, USA; 2Department of Neurology, Massachusetts General Hospital, Boston, MA, USA; 3Department of Dentistry, Harvard School of Dental Medicine, Boston, MA, USA; 4Department of Oral and Maxillofacial Surgery, Eastman Institute, Stockholm, Sweden; 5Department of Clinical Dentistry, University of Bergen, Bergen, Norway; 6Department of Oral and Maxillofacial Surgery, Haukeland University Hospital, Bergen, Norway; 7Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USACorrespondence: Shruti Handa, Department of Surgery, Massachusetts General Hospital, 165 Cambridge Street, Suite &num;401, Boston, Massachusetts, 02114, USA, Email shanda1@mgh.harvard.eduPurpose: Orofacial Pain (OFP) affects 15% of the general population. OFP conditions can be myofascial, also known as temporomandibular disorders (TMDs) or neuropathic. The underlying pathophysiology in several chronic OFP conditions, is unknown. Small fiber neuropathy (SFN) is a disorder of thinly myelinated A-delta and non-myelinated C-fibers and can manifest as sensory and autonomic neuropathies. SFN has been demonstrated in some OFP conditions. Our study aims to assess the presence of OFP in patients with sensory and autonomic neuropathies and assess the correlation between OFP, skin biopsy and autonomic dysfunction.Patients and Methods: This is a retrospective study (2018– 2020) of patients from the SFN registry, Massachusetts General Hospital, Boston, USA, for the presence of OFP. All patients were included. Primary outcome: Prevalence of OFP in patients with chronic neuropathies. Secondary outcomes: Correlation between OFP and skin biopsy, dysautonomia, headaches, chronic nociceptive pain, psychological conditions, and patient factors, such as mean age and BMI.Results: Charts of 450 patients with sensory and autonomic neuropathies were reviewed. 22.67% (n=102) had OFP. The mean (range) age at biopsy in patients with OFP was 48.36 (20– 81) years, female: male ratio 3.25:1. More OFP patients had negative skin biopsy results (p value< 0.05) than those with sensory neuropathies. Patients with OFP had significantly higher prevalence of psychological conditions (p value 0.000), and higher BMI > 30 (p value 0.025). Dysautonomia was significantly higher in patients with TMDs when compared to the ones without TMDs (p value 0.030). There was no significant difference in mean age, gender predilection, presence of headaches, peripheral neuropathies, and nociceptive pain between patients with and without OFP.Conclusion: OFP and sensory neuropathies can be overlapping conditions. Patients presenting with concomitant TMD and dysautonomia can be further tested for SFN. This can further help us understand a correlation if any, between idiopathic TMD/OFP conditions and SFN and further our understanding of the pathophysiology of these conditions.Keywords: idiopathic facial pain, orofacial pain, temporomandibular disorders, skin biopsy, autonomic dysfunction, sensory neuropathic pain, dysautonomia, small fiber neuropathy

Abstract Background Chronic lymphoproliferative disorder of natural killer cells (CLPD-NK) is a rare disease characterized by a persistent increase in NK cells in peripheral blood and is generally asymptomatic. If present, symptoms may include fatigue, B symptoms (fever, night sweats, and unintentional weight loss), autoimmune-associated diseases, splenomegaly, and infection due to neutropenia. Peripheral neuropathy, however, is uncommon with an incidence of 3%. Neurolymphomatosis is a neurological manifestation of non-Hodgkin lymphoma and leukemia in which neurotropic neoplastic cells infiltrate the nerves. Moreover, neurolymphomatosis caused by CLPD-NK is extremely rare, with even fewer cases of autonomic dysfunction. We report a case of neurolymphomatosis associated with CLPD-NK and developed autonomic dysfunction, including orthostatic hypotension and gastrointestinal symptoms. Case presentation The patient was a 61-year-old male who was referred to our hospital for leukocytosis. He was diagnosed with CLPD-NK; however, was untreated since he had no hepatosplenomegaly, and other systemic symptoms. He later developed numbness in his lower extremities. Cerebral spinal fluid examination revealed a markedly elevated protein level of 140 mg/dL, and contrast-enhanced magnetic resonance imaging showed bilateral L4 and 5 nerve roots with enlargement and contrast effect. An immune-mediated polyradiculoneuropathy was suspected, and he was treated with intravenous methylprednisolone and immunoglobulin followed by oral prednisolone and cyclosporine. Although his symptoms were relieved by the immunotherapy, significant autonomic dysfunction, including intractable diarrhea, decreased sweating, and orthostatic hypotension, appeared. Additionally, tests for onconeuronal antibodies, ganglionic nicotinic acetylcholine receptor (gAChR) antibody, NF155, CNTN1, Caspr1 antibody, and anti-ganglioside antibodies were all negative. A sural nerve biopsy revealed lymphocytic infiltration, and immunohistochemical staining of lymphocytes confirmed the infiltration of NK and T cells. Therefore, a diagnosis of neurolymphomatosis caused by CLPD-NK was made, and chemotherapy led to partial symptom improvement. Conclusions We experienced a case of pathologically diagnosed neurolymphomatosis with autonomic dysfunction associated with CLPD-NK. In cases of subacute to chronic autonomic dysfunction, paraneoplastic neuropathy, amyloidosis, and autoimmune autonomic ganglionopathy are considered; however neurolymphomatosis caused by CLPD-NK, an important cause of autonomic dysfunction, is not. In difficult to make diagnosis, aggressive nerve biopsy is required.

Introduction: The thyroid gland and the hypothalamus are closely linked to the cardiovascular system through the Autonomic Nervous System (ANS). The actions of thyroid hormones target the cardiovascular system, affecting homeostasis, which includes contraction, rhythm, blood flow, and peripheral vascular resistance of the myocardium. To assess the function of the ANS that influences the cardiovascular system, Heart Rate Variability (HRV) is an important and increasingly used tool. Aim: To investigate cardiac autonomic changes as assessed by short-term HRV in Subclinical Hypothyroidism (SCH) and to determine whether there is any association between Thyroid Stimulating Hormone (TSH) levels and the Low Frequency/High Frequency (LF/HF) ratio as well as the Standard Deviation of NN intervals (SDNN). Materials and Methods: A cross-sectional analytical study was conducted at R.G. Kar Medical College and Hospital, Kolkata, West Bengal, India from November 2022 to October 2023. Both males and females aged 18-55 years with newly diagnosed SCH (cases, n=50) and healthy individuals (controls, n=50) were included in the study. HRV was recorded using a Physiograph Polyrite-D instrument equipped with bioamplifiers, four channels, and accessories {Record Mangement System (RMS) latest software-version 1.2.5}. The study variables included anthropometric parameters, biochemical parameters (TSH), and HRV parameters such as SDNN and the LF/HF ratio. Relevant data were collected using standard statistical methods, including Statistical Package for Social Sciences (SPSS) version 20.0, unpaired Student’s t-test, and Pearson’s correlation coefficient. Results: The present study found a significant increase in the LF/HF ratio in SCH patients (1.28±0.75) compared to controls (0.90±0.32). There was a significantly lower SDNN value among cases (40.63±21.89) compared to controls (79.86±15.36). No significant changes were observed in Heart Rate (HR), Systolic Blood Pressure (SBP), or Diastolic Blood Pressure (DBP) between cases and controls. The LF/HF ratio and TSH value showed a positive correlation (r=0.09, p=0.57), while SDNN exhibited a negative correlation with TSH value (r=-0.08, p=0.58) among the cases, but neither correlation was statistically significant. Conclusion: The present study concludes that there is a significant change in the LF/HF ratio in newly diagnosed SCH patients. Therefore, the evaluation of short-term HRV can be utilised as a routine screening test for improved medical care.

Abstract Background Isolated rapid eye movement sleep behavior disorder (iRBD) serves as a prodromal phase of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Blunted tachycardia (BT) during postural changes indicates neurogenic orthostatic hypotension, a marker of autonomic dysfunction. We aimed to investigate whether BT is associated with cardiac sympathetic neurogenic denervation. Additionally, we conducted a preliminary short-term follow-up to examine the potential prognostic significance of BT regarding phenoconversion and mortality. Methods Forty-three patients with iRBD at Shiga University of Medical Science Hospital underwent active standing tests to identify BT, defined by a specific ratio of decrease in systolic blood pressure to inadequate increase in heart rate after standing, and orthostatic hypotension. 123I-metaiodobenzylguanidine myocardial scintigraphy (123I-MIBG) and dopamine transporter single-photon emission computed tomography (DAT-SPECT) were performed. Participants were followed up for 3.4 ± 2.4 years for phenoconversion and 4.0 ± 2.3 years for mortality assessment, and the risk of events was analyzed using log-rank tests. Results Among the 43 participants (mean age, 72.3 ± 7.9 years; 8 female), 17 met the BT criteria. We found no significant comorbidity-related differences in hypertension or diabetes between the BT(+) and BT(-) groups. Orthostatic hypotension was more prevalent in the BT(+) group than in the BT(-) group (47.1% vs 7.7%, p = 0.003). BT(+) patients were older with a lower early and delayed MIBG uptake; however, no significant differences were observed in DAT accumulation. Phenoconversion was observed in seven (41.2%) BT(+) and seven (26.9%) BT(-) patients. Three deaths were recorded in the BT(+) group (17.6%) and three in the BT(-) group (11.5%). No significant differences were observed in the risk of phenoconversion or mortality between the groups. Conclusions We have identified the possibility that BT reflects cardiac sympathetic neurogenic denervation in patients with iRBD. Future research is needed to elucidate the potential prognostic value of BT.

The autonomic nervous system and its dysfunction are associated with many diseases. For a healthy individual, it is essential that the sympathetic and parasympathetic systems are balanced and functioning at a high capacity. Psychiatric disorders often exhibit disruptions in the activity of the vagus nerve, which can lead to autonomic dysfunction. People with psychiatric disorders, including panic disorder, depression, bipolar disorder, schizophrenia, post-traumatic stress disorder, anxiety disorders, and substance addiction, often show reduced heart rate variability. Heart rate variability is a reliable marker for assessing autonomic functions, and decreased heart rate variability in individuals with psychiatric disorders can lead to an increased risk of sudden cardiac death. Autonomic dysfunction is observed in psychiatric disorders, and it occurs during the course of the illness, not necessarily at its onset. Autonomic dysfunction accelerates the progression of the disease. Therefore, controlling autonomic functions is crucial. This can help reduce disease symptoms and decrease the morbidity and mortality caused by autonomic dysfunction."

Spinal cord injury (SCI) is a destructive neuropathological condition characterized by the temporary or permanent impairment of spinal cord function, resulting in motor, sensory, and autonomic dysfunctions. Based on the principles of evidence-based medicine, the development of clinical practice guidelines of integrated Chinese and western medicine rehabilitation for SCI can provide clinicians with a comprehensive and standardized framework for SCI treatment and rehabilitation. This scientific, standardized and unified practice guideline covers the technical scope, normative references documents, terms and definitions, SCI classifications and clinical diagnosis, rehabilitation assessment, rehabilitation diagnosis and treatment program and treatment of common complications, etc. Rehabilitation assessment of SCI mainly includes sensory examination, motor examination, motor or sensory function rating, quality of life assessment, functional assessment and psychological function assessment (stress assessment, cognitive function assessment, and emotional state assessment). Rehabilitation diagnosis and treatment program of SCI mainly includes early treatment principles, drug therapy, physical therapy (muscle strength training, balance and gait training, aerobic exercise, electrical stimulation and other therapies), occupational therapy (joint range of motion training, activities of daily living training, resting motor skill training, upper limb function training and wheelchair skills training), assistive devices, traditional Chinese medicine therapy, including single drug therapy (ligustrazine, salvia miltiorrhiza injection, roasted nux vomica, etc.) and compound therapy (salvia miltiorrhiza ligustrazine injection, Buyang Huanwu decoction, Huoxue Tongdu decoction, erxian decoction, Yiqi Huoxue decoction and self-formulated decoction, etc.), acupuncture therapy and other therapies (new drug therapy, cell therapy, neuromodulation technology and brain-spine interface technology). Common complications of SCI include autonomic hyperreflexia, deep vein thrombosis, heterotopic ossification, orthostatic hypotension, pressure ulcers and urinary tract infection. This guideline can provide guidance for all kinds of rehabilitation institutions at all levels as well as the department of orthopedics and traumatology of traditional Chinese medicine, department of orthopedics of integrated traditional Chinese and western medicine, acupuncture and moxibustion department, Tuina department and rehabilitation medicine department in the hospitals of traditional Chinese medicine or general hospitals in China to perform SCI clinical diagnosis, rehabilitation assessment, rehabilitation treatment and treatment of common complications, with good clinical applicability, safety and effectiveness.

Abstract Background Multiple sclerosis (MS) is an inflammatory disease of the central nervous system that causes damage to the myelin and axons and is caused by genetic or environmental factors. Amyotrophic lateral sclerosis (ALS) is characterized by rapidly progressive degeneration of the motor neurons resulting in the presence of upper and lower motor-neuron signs and symptoms. Case presentation A 46-year-old female patient presented with symmetrical weakness of the lower limbs and numbness that developed over weeks. Magnetic resonance imaging (MRI) of the brain exhibited typical demyelination features, high signal abnormality involving the periventricular and subcortical white matter, and an oval-shaped lesion. The patient was diagnosed with MS based on the clinical presentation and radiological examination. However, there was rapid progression of the symptoms, involvement of bulbar dysfunction, and muscle atrophy. Furthermore, the patient did not respond to acute therapy and immunotherapy, which made the diagnosis of MS less likely or suggested that it could be associated with another diagnosis. Her neurophysiological test met the criteria of ALS, and she was started on riluzole. Literature review We reviewed all articles from 1986 to 2023, and there were 32 reported cases describing the co-occurrence of ALS and MS in different populations. Our case is the 33rd, and to our knowledge, it is the only case reported in the Middle East and specifically in Saudi Arabia. The main proposed mechanism according to postmortem examinations is a combination of degenerative and inflammatory processes with a cascade of production of reactive oxygen species and nitric oxide, which lead to cell death and apoptosis during concomitant ALS with MS. Conclusion The co-occurrence of ALS and MS is extremely rare, but it can be explained by pathogenesis related to neurodegeneration, inflammation, or genetic susceptibility. Rapid progressive motor and bulbar symptoms could be red-flag symptoms, extensive evaluation might be needed for these patients.

Background and Purpose Methods Results Conclusions Patients with postural tachycardia syndrome report position‐dependent visual symptoms. Despite their impact on daily life, these symptoms have remained largely unexplored in research. The aim of this study was to investigate the nature of visual symptoms in postural tachycardia syndrome and possible underlying pathophysiological mechanisms.Fifteen patients with postural tachycardia syndrome and 15 healthy controls were included in the study. Through a comprehensive array of measurements, including haemodynamics, subjective symptom assessments, eye movement tracking and pupil diameter analysis, participants were assessed during free image exploration in both supine and 60° head‐up tilt positions.During head‐up tilt, patients showed a decreased number and duration of fixations, as well as a decreased number, peak velocity and amplitude of saccades compared to the supine position and the control group. This reduction in visual exploration occurred primarily in the peripheral field of view and coincided with the occurrence of subjective visual symptoms. No significant differences in the saccade main sequence were observed between the two groups in either body position.Patients with postural tachycardia syndrome have a reduced exploration of the peripheral field of view when in an upright body position, potentially leading to tunnel vision. Since the normality of the saccade main sequence in patients combined with the focus on the centre of the field of view and the lower saccade amplitudes points to an intact brainstem function, the decrease in peripheral visual exploration may be attributed to a position‐dependent dysfunction of the frontal eye field. [ABSTRACT FROM AUTHOR]

Background: Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been suggested. The objective of the present study was to investigate the dynamics of the autonomic activity up to, during, and in the time after individual attacks. We include all seven suitable CLN3 patients in Denmark ≥ 15 years of age. HRV parameters were assessed from continuous heart rate monitoring during seven consecutive days and a particular focus of HRV parameters was obtained in close temporal context to clinically recurrent PSH-like episodes. In addition, the likelihood of PSH was assessed by caregiver's description and by video documentation. Results: Respectively eight and five episodes were recorded in two patients (18 and 20 years of age). The episodes were all safely superior to the cut off values of the clinical assessment score to be considered PSH-like episodes. During all 13 episodes, HRV revealed a statistically significant decrease in root mean square of successive differences (RMSSD) and standard deviation of the Poincaré-Plot interval (SD1) in the minutes prior to the clinical onset of the episodes, both indicating a sudden decrease in parasympathetic activity in advance of the onset. The reduced activity remained low during the episodes, and 15–30 min following the attack cessation, the parasympathetic activity had returned to pre-attacks levels. The sympathetic HRV parameters were unchanged resulting in a sympathetic overactivity during the episodes. In a third participant (32 years of age), in whom severity of PSH-like episodes had been gradually reduced during the last years, five episodes were registered. A similar temporally related reduction of the parasympathetic activity was found, but because the sympathetic activity decreased as well, no sympathetic dominance developed, which most reasonable is the reason to the clinically reduced expression of the episodes. Conclusion: The documented transient withdrawal of parasympathetic activity leading to a paroxysmal unbalanced sympathetic hyperactivity most probably accounts for the PSH-like episodes occurring in post-adolescent CLN3 patients. The findings shed new light on both aetiology and possible preventative and therapeutic measures. [ABSTRACT FROM AUTHOR]

Stroke–heart syndrome (SHS), a critical yet underrecognized condition, encompasses a range of cardiac complications that arise following an ischemic stroke. This narrative review explores the pathophysiology, clinical manifestations, and implications of SHS, focusing on the complex interplay between the brain and the heart. Acute ischemic stroke (AIS) triggers autonomic dysfunction, leading to a surge in catecholamines and subsequent myocardial injury. Our review highlights the five cardinal manifestations of SHS: elevated cardiac troponin (cTn) levels, acute myocardial infarction, left ventricular dysfunction, arrhythmias, and sudden cardiac death. Despite the significant impact of these complications on patient outcomes, there is a notable absence of specific guidelines for their management. Through a comprehensive literature search, we synthesized findings from recent studies to elucidate the mechanisms underlying SHS and identified gaps in the current understanding. Our findings underscore the importance of early detection and multidisciplinary management of cardiac complications post-stroke. Future research should focus on establishing evidence-based protocols to improve clinical outcomes for stroke patients with SHS. Addressing this unmet need will enhance the care of stroke survivors and reduce mortality rates associated with cardiac complications. [ABSTRACT FROM AUTHOR]

Background: Chronic lymphoproliferative disorder of natural killer cells (CLPD-NK) is a rare disease characterized by a persistent increase in NK cells in peripheral blood and is generally asymptomatic. If present, symptoms may include fatigue, B symptoms (fever, night sweats, and unintentional weight loss), autoimmune-associated diseases, splenomegaly, and infection due to neutropenia. Peripheral neuropathy, however, is uncommon with an incidence of 3%. Neurolymphomatosis is a neurological manifestation of non-Hodgkin lymphoma and leukemia in which neurotropic neoplastic cells infiltrate the nerves. Moreover, neurolymphomatosis caused by CLPD-NK is extremely rare, with even fewer cases of autonomic dysfunction. We report a case of neurolymphomatosis associated with CLPD-NK and developed autonomic dysfunction, including orthostatic hypotension and gastrointestinal symptoms. Case presentation: The patient was a 61-year-old male who was referred to our hospital for leukocytosis. He was diagnosed with CLPD-NK; however, was untreated since he had no hepatosplenomegaly, and other systemic symptoms. He later developed numbness in his lower extremities. Cerebral spinal fluid examination revealed a markedly elevated protein level of 140 mg/dL, and contrast-enhanced magnetic resonance imaging showed bilateral L4 and 5 nerve roots with enlargement and contrast effect. An immune-mediated polyradiculoneuropathy was suspected, and he was treated with intravenous methylprednisolone and immunoglobulin followed by oral prednisolone and cyclosporine. Although his symptoms were relieved by the immunotherapy, significant autonomic dysfunction, including intractable diarrhea, decreased sweating, and orthostatic hypotension, appeared. Additionally, tests for onconeuronal antibodies, ganglionic nicotinic acetylcholine receptor (gAChR) antibody, NF155, CNTN1, Caspr1 antibody, and anti-ganglioside antibodies were all negative. A sural nerve biopsy revealed lymphocytic infiltration, and immunohistochemical staining of lymphocytes confirmed the infiltration of NK and T cells. Therefore, a diagnosis of neurolymphomatosis caused by CLPD-NK was made, and chemotherapy led to partial symptom improvement. Conclusions: We experienced a case of pathologically diagnosed neurolymphomatosis with autonomic dysfunction associated with CLPD-NK. In cases of subacute to chronic autonomic dysfunction, paraneoplastic neuropathy, amyloidosis, and autoimmune autonomic ganglionopathy are considered; however neurolymphomatosis caused by CLPD-NK, an important cause of autonomic dysfunction, is not. In difficult to make diagnosis, aggressive nerve biopsy is required. [ABSTRACT FROM AUTHOR]

Introduction: Orthostatic hypotension is common in people with Parkinson’s disease (PD) due to autonomic dysfunction and medication use and can have a significant negative impact on quality of life. Pharmacological treatment is often complicated due to complex blood pressure regulation problems. This case report presents a patient whose symptoms of orthostatic intolerance were successfully treated with the non-pharmacological method of head-up tilt sleeping (HUTS). Case Presentation: A 69-year-old man with PD and prominent autonomic failure received recommendation from the neurologist to use HUTS to battle orthostatic intolerance, of which complaints were worst in the early morning. The patient noted a marked improvement of the orthostatic intolerance after a period in which he slowly step-by-step inclined the bed to an angle just over 10°. When ceasing HUTS for a brief period, complaints of orthostatic intolerance immediately returned and the patient returned to tilted sleeping right away. After a follow-up of 3 months, the patient did not report orthostatic intolerance during a standing test. Conclusion: This case illuminates that, despite difficulties intrinsic to this method, whole-body HUTS can ameliorate orthostatic intolerance and improve the daily life of people with advanced movement disorders. [ABSTRACT FROM AUTHOR]

Background: Heart rate variability (HRV) is the fluctuation in the time intervals between adjacent heartbeats. HRV is a measure of neurocardiac function that is produced by dynamic autonomic nervous system (ANS) processes and is a simple measure that estimates cardiac autonomic modulation. Methods: The study included 108 patients admitted to the Coronary Intensive Care Unit with acute myocardial infarction (AMI) who did not undergo primary percutaneous transluminal coronary angioplasty (PTCA) or systemic thrombolysis and followed conservative management. All patients underwent detailed clinical, biological, and paraclinical assessments, including evaluation of HRV parameters and echocardiographic measurements. The analysis of RR variability in both time and frequency domains indicates that the negative prognosis of patients with AMI is associated with an overall imbalance in the neuro-vegetative system. The HRV parameters were acquired using continuous 24 h electrocardiogram (ECG) monitoring at a baseline, after 1 month, and 6 months. Results: Our analysis reveals correlations between alterations in HRV parameters and the increased risk of adverse events and mortality after AMI. The study found a significant improvement in HRV parameters over time, indicating better autonomic regulation post-AMI. The standard deviation of all RR intervals (SDNN) increased significantly from baseline (median 75.3 ms, IQR 48.2–100) to 1 month (median 87 ms, IQR 55.7–111) and further to 6 months (median 94.2 ms, IQR 67.6–118) (p < 0.001 for both comparisons). The root mean square of successive difference of RR (RMSSD) also showed significant increases at each time point, from baseline (median 27 ms, IQR 22–33) to 1 month (median 30.5 ms, IQR 27–38) and from 1 month to 6 months (median 35 ms, IQR 30–42) (p < 0.001 for all comparisons), indicating enhanced parasympathetic activity. Moreover, changes in HRV parameters have been associated with impaired left ventricle ejection fraction (LVEF) and global longitudinal strain (GLS), indicating a relationship between autonomic dysfunction and myocardial deformation. GLS values improved from a baseline median of −11% (IQR 5%) to −13% (IQR 4%) at 6 months (p < 0.001), reflecting better myocardial function. Conclusions: HRV parameters and cardiac performance analysis, especially using GLS, offer a solid framework for evaluating recovery and predicting adverse outcomes post-MI. [ABSTRACT FROM AUTHOR]

Intramedullary spinal cord glioblastoma (ISCG) is lethal due to lack of effective treatment. We previously established a rat C6-ISCG model and the antitumor effect of F3.CD-TK, an hNSC line expressing CD and TK, via producing cytocidal 5FU and GCV-TP. However, the neurotherapeutic potential of this hNSC approach has remained uninvestigated. Here for the first time, cultured F3.CD-TK cells were found to have a markedly higher oncolytic effect, which was GJIC-dependent, and BDNF expression but less VEGF secretion than F3.CD. In Rowett athymic rats, F3.CD-TK (1.5 × 106 cells/10 µL × 2), injected near C6-ISCG (G55 seeding 7 days earlier: 10 K/each) and followed by q.d. (×5/each repeat; i.p.) of 5FC (500 mg/kg/5 mL/day) and GCV (25 mg/kg/1 mL/day), robustly mitigated cardiorespiratory, locomotor, and sensory deficits to improve neurofunction and overall survival compared to animals receiving either F3.CD or F3.CD-TK+F3.CD debris formula. The F3.CD-TK regimen exerted greater tumor penetration and neural inflammation/immune modulation, reshaped C6-ISCG topology to increase the tumor's surface area/volume ratio to spare/repair host axons (e.g., vGlut1+ neurites), and had higher post-prodrug donor self-clearance. The multimodal data and mechanistic leads from this proof-of-principle study suggest that the overall stronger anti-ISCG benefit of our hNSC-based GDEPT is derived from its concurrent oncolytic and neurotherapeutic effects. [ABSTRACT FROM AUTHOR]

There has been an increasingly reported association between Ehlers-Danlos syndrome (EDS), postural orthostatic tachycardia syndrome (POTS) and gastrointestinal disorders. EDS is a hereditary connective tissue disorder which may manifest as a spectrum of symptoms stemming from collagen defects. The prevalence of EDS is estimated to affect 1 in 5000 individuals which underscores its clinical significance. Notably the hypermobile form (hEDS) accounts for the majority of cases. POTS is characterized by orthostatic intolerance with an increase in heart rate on standing in the absence of hypotension. This condition predominantly affects women between 15 and 45  years of age. Gastrointestinal symptoms in the form of reflux, bloating and abdominal pain significant impact this population. Gastroparesis is a chronic disorder involving symptoms of delayed gastric emptying and may be closely associated with hEDS and POTS, and may be underreported. Autonomic dysfunction associated with hEDS has been proposed as the likely mechanism underlying POTS and gastrointestinal dysfunction though a clear pathophysiological process has not been established. [ABSTRACT FROM AUTHOR]

Background: Isolated rapid eye movement sleep behavior disorder (iRBD) serves as a prodromal phase of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Blunted tachycardia (BT) during postural changes indicates neurogenic orthostatic hypotension, a marker of autonomic dysfunction. We aimed to investigate whether BT is associated with cardiac sympathetic neurogenic denervation. Additionally, we conducted a preliminary short-term follow-up to examine the potential prognostic significance of BT regarding phenoconversion and mortality. Methods: Forty-three patients with iRBD at Shiga University of Medical Science Hospital underwent active standing tests to identify BT, defined by a specific ratio of decrease in systolic blood pressure to inadequate increase in heart rate after standing, and orthostatic hypotension. 123I-metaiodobenzylguanidine myocardial scintigraphy (123I-MIBG) and dopamine transporter single-photon emission computed tomography (DAT-SPECT) were performed. Participants were followed up for 3.4 ± 2.4 years for phenoconversion and 4.0 ± 2.3 years for mortality assessment, and the risk of events was analyzed using log-rank tests. Results: Among the 43 participants (mean age, 72.3 ± 7.9 years; 8 female), 17 met the BT criteria. We found no significant comorbidity-related differences in hypertension or diabetes between the BT(+) and BT(-) groups. Orthostatic hypotension was more prevalent in the BT(+) group than in the BT(-) group (47.1% vs 7.7%, p = 0.003). BT(+) patients were older with a lower early and delayed MIBG uptake; however, no significant differences were observed in DAT accumulation. Phenoconversion was observed in seven (41.2%) BT(+) and seven (26.9%) BT(-) patients. Three deaths were recorded in the BT(+) group (17.6%) and three in the BT(-) group (11.5%). No significant differences were observed in the risk of phenoconversion or mortality between the groups. Conclusions: We have identified the possibility that BT reflects cardiac sympathetic neurogenic denervation in patients with iRBD. Future research is needed to elucidate the potential prognostic value of BT. [ABSTRACT FROM AUTHOR]

Objective: Recent evidence has underscored the detrimental effects of chronic stress on health, particularly its impact on neurodegenerative disorders such as Parkinson's disease (PD). Our study seeks to investigate the complex relationship between autonomic dysfunction and stress-related disorders in PD, aiming to enhance our understanding of these conditions. Methods: We conducted an observational cross-sectional study of PD patients from a movement disorders clinic in Monterrey, Mexico. Sociodemographic and clinical data were collected. Autonomic symptoms were assessed using the Scale for Outcomes in PD-Autonomic (SCOPA-AUT), with patients stratified into two groups based on scores (≥ 10 or < 10). Post-traumatic stress disorder (PTSD) assessment included traumatic experiences and structured interviews using the Clinician-Administered PTSD Scale for DSM-5 (CAPS-5), Checklist for DSM-5 PTSD (PCL-5), acute stress disorder scale, DSM-5 criteria for adaptive disorder, and the Adverse Childhood Experiences Questionnaire. Results: The study included 32 PD patients and revealed a significant association between post-traumatic stress symptoms and autonomic dysfunction. Those with higher post-traumatic stress symptoms, as measured by the PCL-5 scale, exhibited more pronounced autonomic dysfunction, as indicated by higher SCOPA-AUT scores. Traumatic events were also more prevalent in the group with severe autonomic dysfunction, suggesting a link between trauma and autonomic symptoms in PD patients. Conclusions: Our study suggests that post-traumatic stress symptoms may exacerbate autonomic dysfunction in PD patients. This underscores the need for further research to explore mechanisms and therapeutic implications and emphasizes the importance of considering stress-related disorders in the management of PD. [ABSTRACT FROM AUTHOR]

Objective: The study aimed to investigate the relationship between autonomic dysfunction, specifically orthostatic hypotension, and the presence of psychosis in Parkinson's disease (PD) patients. In addition, we aimed to identify other non-motor factors influencing the development of psychosis. Methods: We conducted a multicentric observational cross-sectional study to investigate the potential association between autonomic dysfunction and psychosis in PD patients. Approval was obtained from the institutional review board. Participants (n = 306) were recruited through non-probabilistic convenience sampling from the Mexican Parkinson Study Group cohort. Data collection occurred between July 2017 and June 2018. Demographic and clinical data were collected, including age, gender, disease duration, medication, and movement disorders society-unified Parkinson's disease rating scale (MDS-UPDRS) scores. Psychosis symptoms were assessed using MDS-UPDRS item 1.2, whereas autonomic dysfunction was assessed using items 1.10, 1.11, and 1.12. Descriptive statistics, Chi-square tests, Mann--Whitney U tests, and logistic regression were employed for analysis using IBM SPSS version 25. Results: In our multicenter cohort of 306 Mexican PD patients, 18% reported symptoms of psychosis. Among these patients, orthostatic hypotension on standing was significantly associated with symptoms of psychosis (p = 0.001, OR 2.82). Regression analysis identified apathy (p = 0.003), cognitive impairment (p = 0.012), and longer disease duration (p = 0.001) as predictors of symptoms of psychosis. Conclusions: While orthostatic hypotension is associated with symptoms of psychosis, cognitive impairment, apathy, and disease duration significantly contribute to its presence in our cohort. These findings underscore the complexity of factors contributing to psychosis in PD. Recognizing these non-motor factors is crucial for the comprehensive care and management of PD patients, especially those at risk of developing psychosis. [ABSTRACT FROM AUTHOR]

Background: The 6th International Consensus Statement on Concussion in Sport guidelines identified that measuring autonomic nervous system dysfunction using orthostatic vital signs (VSs) is an important part of the clinical evaluation; however, there are limited data on the frequency of autonomic nervous system dysfunction captured via orthostatic VSs after concussion. Purpose: To compare orthostatic changes in heart rate (HR), systolic blood pressure (SBP), and diastolic blood pressure (DBP) between athletes with acute sport-related concussion (SRC) and control athletes. Study Design: Cross-sectional study; Level of evidence, 3. Methods: We compared 133 athletes (mean age, 15.3 years; age range, 8-28 years; 45.9% female) with acute SRC (<30 days after injury) with 100 control athletes (mean age, 15.7 years; age range, 10-28 years; 54.0% female). Given the broad age range eligible for study inclusion, participants were subdivided into child (younger than 13 years of age), adolescent (13-17 years of age), and adult (18 years of age and older) age groups for subanalyses. Participants completed a single standard orthostatic VS evaluation including HR, SBP, and DBP in the supine position then immediately and 2 minutes after standing. Linear regression was used to compare delayed supine-to-standing changes in HR, SBP, and DBP as a continuous variable (ΔHR, ΔSPB, and ΔDBP) between groups, and logistic regression was used to compare patients with positive orthostatic VS changes (sustained HR increase ≥30 beats per minute [bpm], SBP decrease ≥20 mm Hg, and DBP ≥10 mm Hg at 2 minutes) between groups, accounting for age and sex. Results: Between-group differences were present for delayed ΔHR (18.4 ± 12.7 bpm in patients with SRC vs 13.2 ± 11.0 bpm in controls; P =.002) and ΔSPB (–3.1 ± 6.6 bpm in patients with SRC vs –0.4 ± 6.5 bpm in controls; P =.001), with positive orthostatic HR changes present more frequently in patients with SRC (18% vs 7%; odds ratio, 2.79; P =.027). In the SRC group, a weak inverse relationship was present between age and ΔHR (r = –0.171; P =.049), with positive orthostatic HR findings occurring primarily in the child and adolescent SRC subgroups. Conclusion: Patients with acute SRC had greater orthostatic VS changes compared with controls, the most prominent being sustained HR elevations. Clinical evaluation of autonomic change after SRC via standard orthostatic VS assessment may be a helpful clinical biomarker in the assessment of SRC, especially in children and adolescents. [ABSTRACT FROM AUTHOR]

Introduction: The thyroid gland and the hypothalamus are closely linked to the cardiovascular system through the Autonomic Nervous System (ANS). The actions of thyroid hormones target the cardiovascular system, affecting homeostasis, which includes contraction, rhythm, blood flow, and peripheral vascular resistance of the myocardium. To assess the function of the ANS that influences the cardiovascular system, Heart Rate Variability (HRV) is an important and increasingly used tool. Aim: To investigate cardiac autonomic changes as assessed by short-term HRV in Subclinical Hypothyroidism (SCH) and to determine whether there is any association between Thyroid Stimulating Hormone (TSH) levels and the Low Frequency/High Frequency (LF/HF) ratio as well as the Standard Deviation of NN intervals (SDNN). Materials and Methods: A cross-sectional analytical study was conducted at R.G. Kar Medical College and Hospital, Kolkata, West Bengal, India from November 2022 to October 2023. Both males and females aged 18-55 years with newly diagnosed SCH (cases, n=50) and healthy individuals (controls, n=50) were included in the study. HRV was recorded using a Physiograph Polyrite-D instrument equipped with bioamplifiers, four channels, and accessories {Record Mangement System (RMS) latest software-version 1.2.5}. The study variables included anthropometric parameters, biochemical parameters (TSH), and HRV parameters such as SDNN and the LF/HF ratio. Relevant data were collected using standard statistical methods, including Statistical Package for Social Sciences (SPSS) version 20.0, unpaired Student's t-test, and Pearson's correlation coefficient. Results: The present study found a significant increase in the LF/HF ratio in SCH patients (1.28±0.75) compared to controls (0.90±0.32). There was a significantly lower SDNN value among cases (40.63±21.89) compared to controls (79.86±15.36). No significant changes were observed in Heart Rate (HR), Systolic Blood Pressure (SBP), or Diastolic Blood Pressure (DBP) between cases and controls. The LF/HF ratio and TSH value showed a positive correlation (r=0.09, p=0.57), while SDNN exhibited a negative correlation with TSH value (r=-0.08, p=0.58) among the cases, but neither correlation was statistically significant. Conclusion: The present study concludes that there is a significant change in the LF/HF ratio in newly diagnosed SCH patients. Therefore, the evaluation of short-term HRV can be utilised as a routine screening test for improved medical care. [ABSTRACT FROM AUTHOR]

Background: Chronic pelvic pain (CPP) is a prevailing chronic painful condition in reproductive age group women. CPP is a burden on women with significant detrimental effects on health and personal life. Autonomic dysfunction is associated with several chronic painful conditions. However, there is limited knowledge of the autonomic status of women with chronic pelvic pain. Aim: To study the effect of CPP on cardiovascular autonomic function in women. Settings and Design: An analytical cross-sectional study. Subjects and Methods: we recruited (n=60) patients of CPP in the age group of 18–45 years from the Gynecology outpatient department. The control group (n=30) comprised of agematched healthy 30 female attendants. Outcomes measures: Non-invasive cardiovascular autonomic tests performed were: Basal heart rate variability, E/I ratio: Heart rate variation with respiration, 30:15 ratio: Heart rate response to standing, Postural challenge tests, Cold pressor test, Sustained handgrip test. Statistical Analysis: Unpaired t-test, p-value < 0.05 was considered significant. Results: The values of BHRV, E:I ratio, and 30:15 ratio were found to be significantly lower in the CPP patients compared to controls. The rise in diastolic blood pressure during SHT and CPT was significantly higher in CPP patients as compared to controls (p < 0.001) suggesting sympathetic over-reactivity in CPP patients. Conclusions: From our study involving autonomic function testing on CPP patients, it was concluded that CPP patients have decreased parasympathetic tone and increased sympathetic tone compared to normal controls. [ABSTRACT FROM AUTHOR]

Background: Several single-center studies proposed utility of vagus nerve (VN) ultrasound for detecting disease severity, autonomic dysfunction, and bulbar phenotype in amyotrophic lateral sclerosis (ALS). However, the resulting body of literature shows opposing results, leaving considerable uncertainty on the clinical benefits of VN ultrasound in ALS. Methods: Relevant studies were identified up to 04/2024 and individual patient data (IPD) obtained from the respective authors were pooled with a so far unpublished cohort (from Munich). An IPD meta-analysis of 109 patients with probable or definite ALS (El Escorial criteria) and available VN cross-sectional area (CSA) was performed, with age, sex, ALS Functional Rating Scale-revised (ALSFRS-R), disease duration, and bulbar phenotype as independent variables. Results: Mean age was 65 years (± 12) and 47% of patients (± 12) had bulbar ALS. Mean ALSFRS-R was 38 (± 7), and mean duration was 18 months (± 18). VN atrophy was highly prevalent [left: 67% (± 5), mean CSA 1.6mm2 (± 0.6); right: 78% (± 21), mean CSA 1.8 mm2 (± 0.7)]. VN CSA correlated with disease duration (mean slope: left − 0.01; right − 0.01), but not with ALSFRS-R (mean slope: left 0.004; mean slope: right − 0.002). Test accuracy for phenotyping bulbar vs. non-bulbar ALS was poor (summary receiver operating characteristic area under the curve: left 0.496; right 0.572). Conclusion: VN atrophy in ALS is highly prevalent and correlates with disease duration, but not with ALSFRS-R. VN CSA is insufficient to differentiate bulbar from non-bulbar ALS phenotypes. Further studies are warranted to analyze the link between VN atrophy, autonomic impairment, and survival in ALS. [ABSTRACT FROM AUTHOR]

Introduction Spinal cord injuries often lead to significant motor and sensory deficits, as well as autonomic dysfunction. Compared with normal spinal injuries, combat-related spinal injuries (CRSIs) are usually more complex and challenging to treat because of multiple traumas, firing-line treatments, and arduous initial treatments on a battlefield. Yet numerous issues remain unresolved about clinical treatment and scientific research. The enhancement of CRSI diagnosis and treatment quality by military surgeons and nurses is imperative. The objective of this study is to identify the frontiers, hotspots, and trends among recent research, summarize the development process of clinical trials, and visualize them systematically. Materials and Methods We collected publications from CRSI based on the Core Collection of Web of Science for 30 years from January 1, 1993 to May 1, 2023.Visualizations of the knowledge maps were produced using VOSviewer and CiteSpace software. We examined annual trends of publications and distribution patterns, the number of publications, as well as the research hotspots. Results Among 201 documents, it was found that there was a stable upward trend in publications. There were 2 rapid growth stages during the 30 years. Among all countries, the USA contributed the most publications, along with the highest influence and the most international cooperation. Military Medicine was the journal of the maximum publications, whereas the Spine journal was the most influential one. Keyword co-occurrence analysis and trend topics analysis revealed that these articles focused 5 distinct categories for CRSI. Conclusions As the first bibliometric study focused on CRSI, we demonstrated the evolution of the field and provided future research directions. We summarized the hotspots and 5 clusters published. This would serve as a useful guide for clinicians and scientists regarding CRSI global impacts. [ABSTRACT FROM AUTHOR]

Purpose of Review: Long COVID affects approximately 5 million people in Africa. This disease is characterized by persistent symptoms or new onset of symptoms after an acute SARS-CoV-2 infection. Specifically, the most common symptoms include a range of cardiovascular problems such as chest pain, orthostatic intolerance, tachycardia, syncope, and uncontrolled hypertension. Importantly, these conditions appear to have endothelial dysfunction as the common denominator, which is often due to impaired nitric oxide (NO) mechanisms. This review discusses the role of mechanisms contributing to endothelial dysfunction in Long COVID, particularly in people living with HIV. Recent Findings: Recent studies have reported that increased inflammation and oxidative stress, frequently observed in Long COVID, may contribute to NO dysfunction, ultimately leading to decreased vascular reactivity. These mechanisms have also been reported in people living with HIV. In regions like Africa, where HIV infection is still a major public health challenge with a prevalence of approximately 26 million people in 2022. Specifically, endothelial dysfunction has been reported as a major mechanism that appears to contribute to cardiovascular diseases and the intersection with Long COVID mechanisms is of particular concern. Further, it is well established that this population is more likely to develop Long COVID following infection with SARS-CoV-2. Therefore, concomitant infection with SARS-CoV-2 may lead to accelerated cardiovascular disease. Summary: We outline the details of the worsening health problems caused by Long COVID, which exacerbate pre-existing conditions such as endothelial dysfunction. The overlapping mechanisms of HIV and SARS-CoV-2, particularly the prolonged inflammatory response and chronic hypoxia, may increase susceptibility to Long COVID. Addressing these overlapping health issues is critical as it provides clinical entry points for interventions that could improve and enhance outcomes and quality of life for those affected by both HIV and Long COVID in the region. [ABSTRACT FROM AUTHOR]

Aims: To establish reference values and clinically relevant determinants for measures of heart rate variability (HRV) and to assess their relevance for clinical outcome prediction in individuals with heart failure. Methods: Data from the MyoVasc study (NCT04064450; N = 3289), a prospective cohort on chronic heart failure with a highly standardized, 5 h examination, and Holter ECG recording were investigated. HRV markers were selected using a systematic literature screen and a data-driven approach. Reference values were determined from a healthy subsample. Clinical determinants of HRV were investigated via multivariable linear regression analyses, while their relationship with mortality was investigated by multivariable Cox regression analyses. Results: Holter ECG recordings were available for analysis in 1001 study participants (mean age 64.5 ± 10.5 years; female sex 35.4%). While the most frequently reported HRV markers in literature were from time and frequency domains, the data-driven approach revealed predominantly non-linear HRV measures. Age, sex, dyslipidemia, family history of myocardial infarction or stroke, peripheral artery disease, and heart failure were strongly related to HRV in multivariable models. In a follow-up period of 6.5 years, acceleration capacity [HRperSD 1.53 (95% CI 1.21/1.93), p = 0.0004], deceleration capacity [HRperSD: 0.70 (95% CI 0.55/0.88), p = 0.002], and time lag [HRperSD 1.22 (95% CI 1.03/1.44), p = 0.018] were the strongest predictors of all-cause mortality in individuals with heart failure independently of cardiovascular risk factors, comorbidities, and medication. Conclusion: HRV markers are associated with the cardiovascular clinical profile and are strong and independent predictors of survival in heart failure. This underscores clinical relevance and interventional potential for individuals with heart failure. ClinicalTrials.gov identifier: NCT04064450. [ABSTRACT FROM AUTHOR]

Background: Multiple sclerosis (MS) is an inflammatory disease of the central nervous system that causes damage to the myelin and axons and is caused by genetic or environmental factors. Amyotrophic lateral sclerosis (ALS) is characterized by rapidly progressive degeneration of the motor neurons resulting in the presence of upper and lower motor-neuron signs and symptoms. Case presentation: A 46-year-old female patient presented with symmetrical weakness of the lower limbs and numbness that developed over weeks. Magnetic resonance imaging (MRI) of the brain exhibited typical demyelination features, high signal abnormality involving the periventricular and subcortical white matter, and an oval-shaped lesion. The patient was diagnosed with MS based on the clinical presentation and radiological examination. However, there was rapid progression of the symptoms, involvement of bulbar dysfunction, and muscle atrophy. Furthermore, the patient did not respond to acute therapy and immunotherapy, which made the diagnosis of MS less likely or suggested that it could be associated with another diagnosis. Her neurophysiological test met the criteria of ALS, and she was started on riluzole. Literature review: We reviewed all articles from 1986 to 2023, and there were 32 reported cases describing the co-occurrence of ALS and MS in different populations. Our case is the 33rd, and to our knowledge, it is the only case reported in the Middle East and specifically in Saudi Arabia. The main proposed mechanism according to postmortem examinations is a combination of degenerative and inflammatory processes with a cascade of production of reactive oxygen species and nitric oxide, which lead to cell death and apoptosis during concomitant ALS with MS. Conclusion: The co-occurrence of ALS and MS is extremely rare, but it can be explained by pathogenesis related to neurodegeneration, inflammation, or genetic susceptibility. Rapid progressive motor and bulbar symptoms could be red-flag symptoms, extensive evaluation might be needed for these patients. [ABSTRACT FROM AUTHOR]

(1) Background: Pregnancy induces significant physiological adaptations with substantial impacts on the cardiovascular system. Hypertensive disorders of pregnancy (HDPs) are connected to significant risks of maternal and fetal complications, contributing significantly to morbidity and mortality across the globe. This study focuses on evaluating autonomic dysfunction by analyzing heart rate variability (HRV) and assessing cardiac performance through global longitudinal strain (GLS) using speckle tracking echocardiography, as well as examining diastolic function in pregnant women with HDP compared to healthy pregnant controls. (2) Methods: A case–control study was conducted involving pregnant women diagnosed with gestational hypertension (GH), preeclampsia (PE), or severe preeclampsia (SPE) as the case group, and healthy pregnant women as the control group. HRV was measured to evaluate autonomic function, GLS was assessed using speckle tracking echocardiography, and diastolic function was evaluated through standard echocardiographic parameters. Data were analyzed to compare cardiac performance and autonomic regulation between the HDP and control group, as well as among the different HDP subgroups. (3) Results: The HDP group exhibited significantly reduced HRV parameters compared to healthy controls, indicating notable autonomic dysfunction. Speckle tracking echocardiography revealed lower GLS among women with HDP, particularly in those with SPE, compared to the control group. Diastolic dysfunction was also present in the HDP group. (4) Conclusions: HRV and GLS are valuable non-invasive tools for detecting autonomic dysfunction and cardiac performance impairments in pregnant women with hypertensive disorders. These findings suggest that autonomic and cardiac dysfunctions are prevalent in HDP. [ABSTRACT FROM AUTHOR]

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by hypoventilation due to impaired breathing control by the central nervous system and other symptoms of autonomic dysfunction. Mutations in paired-like homeobox 2 B (PHOX2B) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult. This study aimed to present a comprehensive single-center experience of patients with CCHS, including key clinical features, treatment strategies, and outcomes. A retrospective chart review was performed for patients diagnosed with CCHS between January 2001 and July 2023 at Seoul National University Children's Hospital. Finally, we selected 24 patients and collected their demographic data, genotypes, ventilation methods, and clinical features related to autonomic dysfunction. The relationship between the clinical manifestations and genotypes was also examined. All patients used home ventilators, and tracheostomy was performed in 87.5% of patients. Fifteen (62.5%) patients had constipation and nine (37.5%) were diagnosed with Hirschsprung disease. Arrhythmia, endocrine dysfunction, and subclinical hypothyroidism were present in nine (37.5%), six patients (25.0%), and two patients (16.7%), respectively. A significant number of patients exhibited neurodevelopmental delays (19 patients, 79.2%). There was a correlation between the phenotype and genotype of PHOX2B in patients with CCHS. (r = 0.71, p < 0.001). Conclusion: There was a positive correlation between paired-like homeobox 2 B mutations (especially the number of GCN repeats in the polyalanine repeat mutations sequence) and clinical manifestations. This study also demonstrated how initial treatment for hypoventilation affects neurodevelopmental outcomes in patients with CCHS. What is Known: • Congenital central hypoventilation syndrome is a rare genetic disorder characterized by hypoventilation and dysfunction of autonomic nervous system. • The disease-defining gene of CCHS isPHOX2Bgene – most of the cases have heterozygous PARMs and the number of GCN triplets varies among the patients(20/24 – 20/33). What is New: • We have noted in the Korean patients with CCHS that there is a correlation between genotype (number of GCN repeats) and severity of phenotype. • National support for rare diseases allowed for a prompter diagnosis of patients with CCHS in Korean population. [ABSTRACT FROM AUTHOR]

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Introduction: Myasthenia gravis (MG), a rare autoimmune disorder, poses diagnostic and management challenges, with increasing incidence in Europe and significant impact on patient quality of life. Despite prevalent autonomic symptoms, comprehensive assessments integrating subjective and objective measures are lacking. We aimed to investigate the prevalence and severity of autonomic dysfunction in patients with MG and healthy controls (HCs). Materials and methods: We used beat-to-beat hemodynamic responses during standardized autonomic function tests (AFTs) and the Composite Autonomic Symptom Score 31 (COMPASS-31) questionnaire. Study participants including, 53 patients with MG and 30 age- and sex matched HCs underwent standardized cardiovascular AFTs and completed the COMPASS-31 questionnaire. Patients were categorized into Non-CAN and CAN groups based on their Cardiovascular Autonomic Neuropathy (CAN) status, as evaluated using the Composite Autonomic Scoring Scale (CASS). During the AFTs, cardiovascular parameters including heart rate, systolic blood pressure (BP), diastolic BP, mean BP, stroke volume (SV), cardiac output (CO), and total peripheral resistance (TPR) were measured. Results: Twenty patients with MG (38%) exhibited mild CAN (CASS =2) with a median total CASS score of 1.00 and CASS 0.00 in HCs. Adrenergic impairment was observed in 27 patients (52%), with 13 patients (24.5%) exhibiting longer pressure recovery time after Valsalva maneuver (VM). Cardiovagal impairment was evident in 71% of patients, with abnormal results observed in 39.6% for the deep breathing test and 56.6% for the VM. CAN MG showed worse scores than HCs for the total COMPASS-31 (p < 0.001), orthostatic (OI) (p < 0.001), secretomotor (p = 0.004), and pupillomotor domains (p = 0.004). Total COMPASS-31 and OI scores were correlated with worse disease outcomes (disease duration, severity), hemodynamic parameter changes (SV, CO, TPR) during phase II late of VM, and with changes (tilt-supine) in systolic BP, diastolic BP, mean BP, TPR during head-up-tilt test, but not with CASS score. Conclusion: Our findings demonstrate mild cardiovascular autonomic impairment in adrenergic and cardiovagal domains in patients with MG. Additionally, patient-reported autonomic symptoms correlated with hemodynamic changes during AFTs and worse disease outcomes and not with the grade of autonomic abnormalities. Incorporating beat-to-beat hemodynamics during AFTs may offer further insights for characterizing orthostatic intolerance symptoms in MG group. [ABSTRACT FROM AUTHOR]