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1.
Chaos ; 34(5)2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38717411

RESUMO

We tested the validity of the state space correspondence (SSC) strategy based on k-nearest neighbor cross-predictability (KNNCP) to assess the directionality of coupling in stochastic nonlinear bivariate autoregressive (NBAR) processes. The approach was applied to assess closed-loop cardiorespiratory interactions between heart period (HP) variability and respiration (R) during a controlled respiration (CR) protocol in 19 healthy humans (aged from 27 to 35 yrs, 11 females) and during active standing (STAND) in 25 athletes (aged from 20 to 40 yrs, all men) and 25 non-athletes (aged from 20 to 40 yrs, all men). Over simulated NBAR processes, we found that (i) the SSC approach can detect the correct causal relationship as the direction leads to better KNNCP from the past of the driver to the future state of the target and (ii) simulations suggest that the ability of the method is preserved in any condition of complexity of the interacting series. Over CR and STAND protocols, we found that (a) slowing the breathing rate increases the strength of the causal relationship in both temporal directions in a balanced modality; (b) STAND is more powerful in modulating the coupling strength on the pathway from HP to R; (c) regardless of protocol and experimental condition, the strength of the link from HP to R is stronger than that from R to HP; (d) significant causal relationships in both temporal directions are found regardless of the level of complexity of HP variability and R. The SSC strategy is useful to disentangle closed-loop cardiorespiratory interactions.


Assuntos
Frequência Cardíaca , Processos Estocásticos , Humanos , Adulto , Masculino , Feminino , Frequência Cardíaca/fisiologia , Respiração , Adulto Jovem , Dinâmica não Linear , Algoritmos
2.
Am J Physiol Regul Integr Comp Physiol ; 324(4): R601-R612, 2023 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-36878488

RESUMO

Baroreflex is commonly typified from heart period (HP) and systolic arterial pressure (SAP) spontaneous variations in the frequency domain mainly by estimating its sensitivity. However, an informative parameter linked to the rapidity of the HP response to SAP changes, such as the baroreflex bandwidth, remains unquantified. We propose a model-based parametric approach for estimating the baroreflex bandwidth from the impulse response function (IRF) of the HP-SAP transfer function (TF). The approach accounts explicitly for the action of mechanisms modifying HP regardless of SAP changes. The method was tested during graded baroreceptor unloading induced by head-up tilt (HUT) at 15°, 30°, 45°, 60°, and 75° (T15, T30, T45, T60, and T75) in 17 healthy individuals (age: 21-36 yr; 9 females and 8 males) and during baroreceptor loading obtained via head-down tilt (HDT) at -25° in 13 healthy men (age: 41-71 yr). The bandwidth was estimated as the decay constant of the monoexponential IRF fitting. The method was robust because the monoexponential fitting described adequately the HP dynamics following an impulse of SAP. We observed that 1) baroreflex bandwidth is reduced during graded HUT and this narrowing is accompanied by the reduction of the bandwidth of mechanisms that modify HP regardless of SAP changes and 2) baroreflex bandwidth is not affected by HDT but that of SAP-unrelated mechanisms becomes wider. This study provides a method for estimating a baroreflex feature that provides different information compared with the more usual baroreflex sensitivity while accounting explicitly for the action of mechanisms changing HP irrespective of SAP.


Assuntos
Barorreflexo , Coração , Masculino , Feminino , Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Barorreflexo/fisiologia , Coração/fisiologia , Pressão Sanguínea/fisiologia , Frequência Cardíaca/fisiologia , Sistema Nervoso Autônomo/fisiologia
3.
Clin Auton Res ; 33(6): 821-841, 2023 12.
Artigo em Inglês | MEDLINE | ID: mdl-37541968

RESUMO

PURPOSE: Increasing evidence demonstrates that gender-related factors, and not only biological sex, are relevant in the physiological and pathophysiological mechanisms of the cardiovascular system, including the cardiac autonomic regulation. Sex and gender may also affect daytime and night-time cardiac autonomic control. This meta-analysis aimed to provide a comparison between healthy women and men on heart rate variability using 24-h ECG recordings pointing out sex- and gender-related factors. METHODS: A systematic search was conducted to include studies focusing on both sex and gender differences related to heart rate variability indices in the time and frequency domains. Descriptive data were extracted by two independent reviewers. For each index, standardized mean differences with 95% confidence intervals were computed and a pooled estimate using a fixed- or random-effects model was applied. RESULTS: Twenty-seven studies were included in the meta-analysis. The results showed that only seven studies reported some information about gender-related factors. Concerning sex-related differences, women had a shorter mean RR interval and lower variability of the time domain indices than men. Sex-related differences concerning frequency domain indices were more evident during night-time compared to daytime. CONCLUSION: The characterization of gender-related factors in the study of heart rate variability using 24-h ECG recordings is still sporadic and underexplored. The meta-analysis results could not conclusively support a significant increase of high frequency power in women, although women showed a reduced total power and low frequency to high frequency ratio. There is a strong need for considering heart rate variability in relation to gender-related variables.


Assuntos
Sistema Nervoso Autônomo , Coração , Masculino , Humanos , Feminino , Frequência Cardíaca/fisiologia , Fatores Sexuais , Eletrocardiografia
4.
Sensors (Basel) ; 23(4)2023 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-36850828

RESUMO

Easy-to-use evaluation of Range Of Motion (ROM) during walking is necessary to make decisions during neurological rehabilitation programs and during follow-up visits in clinical and remote settings. This study discussed goniometer applications (DrGoniometer and Angles - Video Goniometer) that measure knee joint ROM during walking through smartphone cameras. The primary aim of the study is to test the inter-rater and intra-rater reliability of the collected measurements as well as their concurrent validity with an electro-goniometer. The secondary aim is to evaluate the usability of the two mobile applications. A total of 22 patients with Parkinson's disease (18 males, age 72 (8) years), 22 post-stroke patients (17 males, age 61 (13) years), and as many healthy volunteers (8 males, age 45 (5) years) underwent knee joint ROM evaluations during walking. Clinicians and inexperienced examiners used the two mobile applications to calculate the ROM, and then rated their perceived usability through the System Usability Scale (SUS). Intraclass correlation coefficients (ICC) and correlation coefficients (corr) were calculated. Both applications showed good reliability (ICC > 0.69) and validity (corr > 0.61), and acceptable usability (SUS > 68). Smartphone-based video goniometers could be used to assess the knee ROM during walking in neurological patients, because of their acceptable degree of reliability, validity and usability.


Assuntos
Articulação do Joelho , Aplicativos Móveis , Masculino , Humanos , Idoso , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Caminhada , Voluntários Saudáveis
5.
Entropy (Basel) ; 25(4)2023 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-37190390

RESUMO

Nonlinear markers of coupling strength are often utilized to typify cardiorespiratory and cerebrovascular regulations. The computation of these indices requires techniques describing nonlinear interactions between respiration (R) and heart period (HP) and between mean arterial pressure (MAP) and mean cerebral blood velocity (MCBv). We compared two model-free methods for the assessment of dynamic HP-R and MCBv-MAP interactions, namely the cross-sample entropy (CSampEn) and k-nearest-neighbor cross-unpredictability (KNNCUP). Comparison was carried out first over simulations generated by linear and nonlinear unidirectional causal, bidirectional linear causal, and lag-zero linear noncausal models, and then over experimental data acquired from 19 subjects at supine rest during spontaneous breathing and controlled respiration at 10, 15, and 20 breaths·minute-1 as well as from 13 subjects at supine rest and during 60° head-up tilt. Linear markers were computed for comparison. We found that: (i) over simulations, CSampEn and KNNCUP exhibit different abilities in evaluating coupling strength; (ii) KNNCUP is more reliable than CSampEn when interactions occur according to a causal structure, while performances are similar in noncausal models; (iii) in healthy subjects, KNNCUP is more powerful in characterizing cardiorespiratory and cerebrovascular variability interactions than CSampEn and linear markers. We recommend KNNCUP for quantifying cardiorespiratory and cerebrovascular coupling.

6.
Am J Med Genet A ; 188(2): 522-533, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34713950

RESUMO

CHD2 encodes the chromodomain helicase DNA-binding protein 2, an ATP-dependent enzyme that acts as a chromatin remodeler. CHD2 pathogenic variants have been associated with various early onset phenotypes including developmental and epileptic encephalopathy, self-limiting or pharmacoresponsive epilepsies and neurodevelopmental disorders without epilepsy. We reviewed 84 previously reported patients carrying 76 different CHD2 pathogenic or likely pathogenic variants and describe 18 unreported patients carrying 12 novel pathogenic or likely pathogenic variants, two recurrent likely pathogenic variants (in two patients each), three previously reported pathogenic variants, one gross deletion. We also describe a novel phenotype of adult-onset pharmacoresistant epilepsy, associated with a novel CHD2 missense likely pathogenic variant, located in an interdomain region. A combined review of previously published and our own observations indicates that although most patients (72.5%) carry truncating CHD2 pathogenic variants, CHD2-related phenotypes encompass a wide spectrum of conditions with developmental delay/intellectual disability (ID), including prominent language impairment, attention deficit hyperactivity disorder and autistic spectrum disorder. Epilepsy is present in 92% of patients with a median age at seizure onset of 2 years and 6 months. Generalized epilepsy types are prevalent and account for 75.5% of all epilepsies, with photosensitivity being a common feature and adult-onset nonsyndromic epilepsy a rare presentation. No clear genotype-phenotype correlation has emerged.


Assuntos
Epilepsia , Transtornos do Neurodesenvolvimento , Proteínas de Ligação a DNA/genética , Eletroencefalografia , Epilepsia/genética , Humanos , Mutação , Transtornos do Neurodesenvolvimento/genética , Fenótipo
7.
Sensors (Basel) ; 22(17)2022 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-36080851

RESUMO

There is a need for unobtrusive and valid tools to collect gait parameters in patients with Parkinson's disease (PD). The novel promising tools are pressure-sensing insoles connected to a smartphone app; however, few studies investigated their measurement properties during simple or challenging conditions in PD patients. This study aimed to examine the validity and reliability of gait parameters computed by pressure-sensing insoles (FeetMe® insoles, Paris, France). Twenty-five PD patients (21 males, mean age: 69 (7) years) completed two walking assessment sessions. In each session, participants walked on an electronic pressure-sensitive walkway (GaitRite®, CIR System Inc., Franklin, NJ, USA) without other additional instructions (i.e., single-task condition) and while performing a concurrent cognitive task (i.e., dual-task condition). Spatiotemporal gait parameters were measured simultaneously using the pressure-sensing insoles and the electronic walkway. Concurrent validity was assessed by correlation coefficients and Bland-Altman methodology. Test-retest reliability was examined by intraclass correlation coefficients (ICC) and minimal detectable changes (MDC). The validity results showed moderate to excellent correlations and good agreement between the two systems. Concerning test-retest reliability, moderate-to-excellent ICC values and acceptable MDC demonstrated the repeatability of the measured gait parameters. Our findings support the use of these insoles as complementary instruments to conventional tools during single and dual-task conditions.


Assuntos
Doença de Parkinson , Idoso , Cognição , Feminino , Marcha , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Caminhada
8.
Entropy (Basel) ; 24(1)2022 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-35052106

RESUMO

Cerebrovascular control is carried out by multiple nonlinear mechanisms imposing a certain degree of coupling between mean arterial pressure (MAP) and mean cerebral blood flow (MCBF). We explored the ability of two nonlinear tools in the information domain, namely cross-approximate entropy (CApEn) and cross-sample entropy (CSampEn), to assess the degree of asynchrony between the spontaneous fluctuations of MAP and MCBF. CApEn and CSampEn were computed as a function of the translation time. The analysis was carried out in 23 subjects undergoing recordings at rest in supine position (REST) and during active standing (STAND), before and after surgical aortic valve replacement (SAVR). We found that at REST the degree of asynchrony raised, and the rate of increase in asynchrony with the translation time decreased after SAVR. These results are likely the consequence of the limited variability of MAP observed after surgery at REST, more than the consequence of a modified cerebrovascular control, given that the observed differences disappeared during STAND. CApEn and CSampEn can be utilized fruitfully in the context of the evaluation of cerebrovascular control via the noninvasive acquisition of the spontaneous MAP and MCBF variability.

9.
Philos Trans A Math Phys Eng Sci ; 379(2212): 20200251, 2021 Dec 13.
Artigo em Inglês | MEDLINE | ID: mdl-34689616

RESUMO

We propose a procedure suitable for automated synchrogram analysis for setting the threshold below which phase variability between two marker event series is of such a negligible amount that the null hypothesis of phase desynchronization can be rejected. The procedure exploits the principle of maximizing the likelihood of detecting phase synchronization epochs and it is grounded on a surrogate data approach testing the null hypothesis of phase uncoupling. The approach was applied to assess cardiorespiratory phase interactions between heartbeat and inspiratory onset in amateur cyclists before and after 11-week inspiratory muscle training (IMT) at different intensities and compared to a more traditional approach to set phase variability threshold. The proposed procedure was able to detect the decrease in cardiorespiratory phase locking strength during vagal withdrawal induced by the modification of posture from supine to standing. IMT had very limited effects on cardiorespiratory phase synchronization strength and this result held regardless of the training intensity. In amateur athletes training, the inspiratory muscles did not limit the decrease in cardiorespiratory phase synchronization observed in the upright position as a likely consequence of the modest impact of this respiratory exercise, regardless of its intensity, on cardiac vagal control. This article is part of the theme issue 'Advanced computation in cardiovascular physiology: new challenges and opportunities'.


Assuntos
Exercícios Respiratórios , Frequência Cardíaca , Humanos
10.
Medicina (Kaunas) ; 57(6)2021 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-34203693

RESUMO

Background and objectives: Falls represent a major cause of morbidity, hospitalizations, and mortality in older persons. The identification of risk conditions for falling is crucial. This study investigated the presence of syncope as a possible cause of falls in older persons admitted to a Sub-Acute Care Unit (SACU) with a diagnosis of accidental fall after initial management in an emergency department and acute hospitalization. Materials and methods: A retrospective monocentric study of patients aged ≥65 years, consecutively admitted to a SACU with a diagnosis of fall-related trauma. All patients underwent a complete assessment of the index event and clinical status. Patients were categorized into three groups according to the identified cause of falls: (1) transient loss of consciousness (T-LOC), (2) unexplained fall (UF), and (3) definite accidental fall (AF). Results: A total of 100 patients were evaluated. T-LOC was present in 36 patients, UF in 37, and AF in 27. Of the 36 patients with T-LOC, a probable origin was identified in most cases (n = 33, 91%), 19 subjects (53%) had orthostatic hypotension, 9 (25%) a cardiac relevant disturbance, 2 (6%) a reproduced vaso-vagal syncope, 2 (6%) severe anemia, and 1 (3%) severe hypothyroidism. The T-LOC group was older and more clinically complex than the other groups. Conclusion: In older patients who recently experienced a fall event, the prevalence of syncope is relevant. In frail and clinically complex patients with falls, the identification of the underlying cause is pivotal and can be achieved through prolonged monitoring and a comprehensive assessment of the person.


Assuntos
Hipotensão Ortostática , Síncope Vasovagal , Idoso , Idoso de 80 Anos ou mais , Humanos , Hipotensão Ortostática/complicações , Hipotensão Ortostática/diagnóstico , Hipotensão Ortostática/epidemiologia , Estudos Retrospectivos , Síncope/epidemiologia , Síncope/etiologia
11.
Entropy (Basel) ; 22(7)2020 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-33286495

RESUMO

It has been suggested that a viable strategy to improve complexity estimation based on the assessment of pattern similarity is to increase the pattern matching rate without enlarging the series length. We tested this hypothesis over short simulations of nonlinear deterministic and linear stochastic dynamics affected by various noise amounts. Several transformations featuring a different ability to increase the pattern matching rate were tested and compared to the usual strategy adopted in sample entropy (SampEn) computation. The approaches were applied to evaluate the complexity of short-term cardiac and vascular controls from the beat-to-beat variability of heart period (HP) and systolic arterial pressure (SAP) in 12 Parkinson disease patients and 12 age- and gender-matched healthy subjects at supine resting and during head-up tilt. Over simulations, the strategies estimated a larger complexity over nonlinear deterministic signals and a greater regularity over linear stochastic series or deterministic dynamics importantly contaminated by noise. Over short HP and SAP series the techniques did not produce any practical advantage, with an unvaried ability to discriminate groups and experimental conditions compared to the traditional SampEn. Procedures designed to artificially increase the number of matches are of no methodological and practical value when applied to assess complexity indexes.

12.
G Ital Med Lav Ergon ; 42(2): 121-123, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32614542

RESUMO

SUMMARY: Orthostatic hypotension (OH) is a disabling condition accompanying several diseases. It has increased morbidity and mortality, and limited chances of treatment. We report a case of a patient with stable ischemic heart disease and severe OH unresponsive to usual care. A baseline 75° head-up tilt test (HUT) was positive for symptomatic OH, i.e. pre-syncope with a systolic arterial pressure drop of 35 mmHg. On top of optimal treatment, ivabradine was started. Symptoms improved within 24 hours. At a repeated HUT, the patient could tolerate the up-right position up to 25 minutes. He was able to undergo an individualized training program with further amelioration of quality of life. Thereafter, titration of ACE inhibitors became possible. Lasting benefits were present at a 6-month follow-up. To our knowledge, this is the first reported case of successful use of ivabradine to integrate cardiac rehabilitation for management of a highly disabling OH.


Assuntos
Fármacos Cardiovasculares/uso terapêutico , Hipotensão Ortostática/tratamento farmacológico , Hipotensão Ortostática/reabilitação , Ivabradina/uso terapêutico , Idoso , Inibidores da Enzima Conversora de Angiotensina/administração & dosagem , Reabilitação Cardíaca , Fármacos Cardiovasculares/administração & dosagem , Humanos , Hipotensão Ortostática/diagnóstico , Ivabradina/administração & dosagem , Masculino , Isquemia Miocárdica/complicações , Qualidade de Vida , Posição Ortostática , Teste da Mesa Inclinada , Fatores de Tempo
13.
Am J Physiol Regul Integr Comp Physiol ; 317(4): R539-R551, 2019 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-31365303

RESUMO

In heart period (HP) variability (HPV) recordings the percentage of negative HP variations tends to be greater than that of positive ones and this pattern is referred to as HPV asymmetry (HPVA). HPVA has been studied in several experimental conditions in healthy and pathological populations, but its origin is unclear. The baroreflex (BR) exhibits an asymmetric behavior as well given that it reacts more importantly to positive than negative arterial pressure (AP) variations. We tested the hypothesis that the BR asymmetry (BRA) is a HPVA determinant over spontaneous fluctuations of HP and systolic AP (SAP). We studied 100 healthy subjects (age from 21 to 70 yr, 54 men) comprising 20 subjects in each age decade. Electrocardiogram and noninvasive AP were recorded for 15 min at rest in supine position (REST) and during active standing (STAND). The HPVA was evaluated via Porta's index and Guzik's index, while the BRA was assessed as the difference, and normalized difference, between BR sensitivities computed over positive and negative SAP variations via the sequence method applied to HP and SAP variability. HPVA significantly increased during STAND and decreased progressively with age. BRA was not significantly detected both at REST and during STAND. However, we found a significant positive association between BRA and HPVA markers during STAND persisting even within the age groups. This study supports the use of HPVA indexes as descriptors of BRA and identified a challenge soliciting the BR response like STAND to maximize the association between HPVA and BRA markers.


Assuntos
Barorreflexo , Coração/fisiologia , Adulto , Idoso , Pressão Arterial/fisiologia , Feminino , Frequência Cardíaca/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
14.
Entropy (Basel) ; 20(12)2018 Dec 10.
Artigo em Inglês | MEDLINE | ID: mdl-33266673

RESUMO

Synergy and redundancy are concepts that suggest, respectively, adaptability and fault tolerance of systems with complex behavior. This study computes redundancy/synergy in bivariate systems formed by a target X and a driver Y according to the predictive information decomposition approach and partial information decomposition framework based on the minimal mutual information principle. The two approaches assess the redundancy/synergy of past of X and Y in reducing the uncertainty of the current state of X. The methods were applied to evaluate the interactions between heart and respiration in healthy young subjects (n = 19) during controlled breathing at 10, 15 and 20 breaths/minute and in two groups of chronic heart failure patients during paced respiration at 6 (n = 9) and 15 (n = 20) breaths/minutes from spontaneous beat-to-beat fluctuations of heart period and respiratory signal. Both methods suggested that slowing respiratory rate below the spontaneous frequency increases redundancy of cardiorespiratory control in both healthy and pathological groups, thus possibly improving fault tolerance of the cardiorespiratory control. The two methods provide markers complementary to respiratory sinus arrhythmia and the strength of the linear coupling between heart period variability and respiration in describing the physiology of the cardiorespiratory reflex suitable to be exploited in various pathophysiological settings.

15.
Chaos ; 27(9): 093901, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28964147

RESUMO

We propose a multiscale complexity (MSC) method assessing irregularity in assigned frequency bands and being appropriate for analyzing the short time series. It is grounded on the identification of the coefficients of an autoregressive model, on the computation of the mean position of the poles generating the components of the power spectral density in an assigned frequency band, and on the assessment of its distance from the unit circle in the complex plane. The MSC method was tested on simulations and applied to the short heart period (HP) variability series recorded during graded head-up tilt in 17 subjects (age from 21 to 54 years, median = 28 years, 7 females) and during paced breathing protocols in 19 subjects (age from 27 to 35 years, median = 31 years, 11 females) to assess the contribution of time scales typical of the cardiac autonomic control, namely in low frequency (LF, from 0.04 to 0.15 Hz) and high frequency (HF, from 0.15 to 0.5 Hz) bands to the complexity of the cardiac regulation. The proposed MSC technique was compared to a traditional model-free multiscale method grounded on information theory, i.e., multiscale entropy (MSE). The approach suggests that the reduction of HP variability complexity observed during graded head-up tilt is due to a regularization of the HP fluctuations in LF band via a possible intervention of sympathetic control and the decrement of HP variability complexity observed during slow breathing is the result of the regularization of the HP variations in both LF and HF bands, thus implying the action of physiological mechanisms working at time scales even different from that of respiration. MSE did not distinguish experimental conditions at time scales larger than 1. Over a short time series MSC allows a more insightful association between cardiac control complexity and physiological mechanisms modulating cardiac rhythm compared to a more traditional tool such as MSE.


Assuntos
Algoritmos , Frequência Cardíaca/fisiologia , Modelos Lineares , Adulto , Simulação por Computador , Entropia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Cardiovasculares , Adulto Jovem
16.
Am J Physiol Regul Integr Comp Physiol ; 310(11): R1134-43, 2016 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-27009053

RESUMO

Muscle sympathetic nerve activity (MSNA) variability is traditionally computed through a low-pass filtering procedure that requires normalization. We proposed a new beat-to-beat MSNA variability computation that preserves dimensionality typical of an integrated neural discharge (i.e., bursts per unit of time). The calibrated MSNA (cMSNA) variability technique is contrasted with the traditional uncalibrated MSNA (ucMSNA) version. The powers of cMSNA and ucMSNA variabilities in the low-frequency (LF, from 0.04 to 0.15 Hz) band were computed with those of the heart period (HP) of systolic and diastolic arterial pressure (SAP and DAP, respectively) in seven healthy subjects (age, 20-28 years; median, 22 years; 5 women) during a graded head-up tilt. Subjects were sequentially tilted at 0°, 20°, 30°, 40°, and 60° table inclinations. The LF powers of ucMSNA and HP variabilities were expressed in normalized units (LFnu), whereas all remaining spectral markers were expressed in absolute units. We found that 1) the LF power of cMSNA variability was positively correlated with tilt angle, whereas the LFnu power of the ucMSNA series was uncorrelated; 2) the LF power of cMSNA variability was correlated with LF powers of SAP and DAP, LFnu power of HP and noradrenaline concentration, whereas the relationship of the LFnu power of ucMSNA variability to LF powers of SAP and DAP was weaker and that to LFnu power of HP was absent; and 3) the stronger relationship of cMSNA variability to SAP and DAP spectral markers compared with the ucMSNA series was confirmed individually. The cMSNA variability appears to be more suitable in describing sympathetic control in humans than traditional ucMSNA variability.


Assuntos
Relógios Biológicos/fisiologia , Frequência Cardíaca/fisiologia , Músculo Esquelético/fisiologia , Norepinefrina/sangue , Sistema Nervoso Simpático/fisiologia , Teste da Mesa Inclinada/normas , Adulto , Barorreflexo/fisiologia , Calibragem , Técnicas de Diagnóstico Cardiovascular/normas , Técnicas de Diagnóstico Neurológico/normas , Feminino , Humanos , Masculino , Músculo Esquelético/inervação , Reprodutibilidade dos Testes , Sensibilidade e Especificidade
17.
Am J Med Genet A ; 170(8): 1989-2001, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-27196381

RESUMO

Barber-Say syndrome (BSS) and Ablepharon-Macrostomia syndrome (AMS) are congenital malformation syndromes caused by heterozygous mutations in TWIST2. Here we provide a critical review of all patients published with these syndromes. We excluded several earlier reports due to misdiagnosis or insufficient data for reliable confirmation of the diagnosis. There remain 16 reliably diagnosed individuals with BSS and 16 with AMS. Major facial characteristics present in both entities, albeit often in differing frequencies, are excessive facial creases, hypertelorism, underdevelopment of the anterior part of the eyelids (anterior lamella), ectropion, broad nasal ridge and tip, thick and flaring alae nasi, protruding maxilla, wide mouth, thin upper vermillion, and attached ear lobes. In BSS a remarkable extension of the columella on the philtrum can be seen, and in both the medial parts of the cheeks bulge towards the corners of the mouth (cheek pads). Scalp hair is sparse in AMS only, but sparse eyebrows and eyelashes occur in both entities, and general hypertrichosis occurs in BSS. We compare these characteristics with those in Setleis syndrome which can also be caused by TWIST2 mutations. The resemblance between the three syndromes is considerable, and likely differences seem larger than they actually are due to insufficiently complete evaluation for all characteristics of the three entities in the past. It is likely that with time it can be concluded that BSS. AMS and Setleis syndrome form a continuum. © 2016 Wiley Periodicals, Inc.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Doenças Palpebrais/diagnóstico , Hirsutismo/diagnóstico , Hipertelorismo/diagnóstico , Hipertricose/diagnóstico , Macrostomia/diagnóstico , Fenótipo , Anormalidades da Pele/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades do Olho/genética , Doenças Palpebrais/genética , Fácies , Estudos de Associação Genética , Genótipo , Hirsutismo/genética , Humanos , Hipertelorismo/genética , Hipertricose/genética , Macrostomia/genética , Mutação , Anormalidades da Pele/genética , Proteína 2 Relacionada a Twist/genética
18.
Cureus ; 16(3): e56449, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38638792

RESUMO

Autonomic nervous system (ANS) regulation in hereditary angioedema (HAE) and coronavirus disease 2019 (COVID-19) is unknown. ANS alterations could be manifested during both the acute and post-acute phases of COVID-19. Implications of acute and chronic inflammation on ANS in HAE need to be addressed. In this case report, we monitored the systolic arterial blood pressure variability and baroreflex sensitivity in a female HAE patient both before experiencing COVID-19 symptoms and one month afterward. We also tracked the heart rate variability on the day preceding symptom onset, the day of symptom onset (SYM), the day following SYM, five days after SYM, the day of the first negative nasopharyngeal swab (i.e., 12 days after SYM), and one month after symptom onset. The results of this case report provide the characterization of vascular and cardiac autonomic profiles in an HAE patient until the resolution of an acute infection, a potential trigger for the acute HAE attack.

19.
J Clin Med ; 13(8)2024 Apr 12.
Artigo em Inglês | MEDLINE | ID: mdl-38673501

RESUMO

Background: Autonomic function and baroreflex control might influence the survival rate of coronavirus disease 2019 (COVID-19) patients admitted to the intensive care unit (ICU) compared to respiratory failure patients without COVID-19 (non-COVID-19). This study describes physiological control mechanisms in critically ill COVID-19 patients admitted to the ICU in comparison to non-COVID-19 individuals with the aim of improving stratification of mortality risk. Methods: We evaluated autonomic and baroreflex control markers extracted from heart period (HP) and systolic arterial pressure (SAP) variability acquired at rest in the supine position (REST) and during a modified head-up tilt (MHUT) in 17 COVID-19 patients (age: 63 ± 10 years, 14 men) and 33 non-COVID-19 patients (age: 60 ± 12 years, 23 men) during their ICU stays. Patients were categorized as survivors (SURVs) or non-survivors (non-SURVs). Results: We found that COVID-19 and non-COVID-19 populations exhibited similar vagal and sympathetic control markers; however, non-COVID-19 individuals featured a smaller baroreflex sensitivity and an unexpected reduction in the HP-SAP association during the MHUT compared to the COVID-19 group. Nevertheless, none of the markers of the autonomic and baroreflex functions could distinguish SURVs from non-SURVs in either population. Conclusions: We concluded that COVID-19 patients exhibited a more preserved baroreflex control compared to non-COVID-19 individuals, even though this information is ineffective in stratifying mortality risk.

20.
Sci Rep ; 14(1): 3727, 2024 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-38355646

RESUMO

Remote work (REMOTE) causes an overlap between working and domestic demands. The study of the cardiac autonomic profile (CAP) by means of heart rate variability (HRV) provides information about the impact of REMOTE on workers' health. The primary aim was to determine whether CAP, self-perceived stress, environmental and workstation comfort are modified during REMOTE. The secondary aim was to explore how these indices are influenced by individual and environmental work-related factors. Fifty healthy office employees alternating REMOTE and in-office (OFFICE) working were enrolled, rated self-perceived stress, environmental and workstation comfort using a visual analogue scale and performed a 24-h electrocardiogram during REMOTE and OFFICE. Stress was lower (5.6 ± 2.2 vs. 6.4 ± 1.8), environmental comfort higher (7.7 ± 1.9 vs. 7.0 ± 1.5), and the workstation comfort poorer (6.2 ± 1.8 vs. 7.5 ± 1.2) during REMOTE. CAP was similar during REMOTE and OFFICE. CAP was influenced by some work-related factors, including the presence of offspring, absence of a dedicated workspace during REMOTE and number of working hours. All these variables determined a decreased vagal modulation. The working setting seems to impact the levels of perceived stress and comfort, but not the CAP. However, individual and environmental work-related factors reduce cardiac vagal modulation during REMOTE, potentially increasing the risk of developing cardiovascular diseases.


Assuntos
Sistema Nervoso Autônomo , Saúde Ocupacional , Humanos , Coração , Nervo Vago , Frequência Cardíaca/fisiologia , Estresse Psicológico/etiologia
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