MyoFold: Joint myocardial tissue composition and wall motion quantification via a highly folded sequence.

PURPOSE: This study aims to develop and evaluate a novel cardiovascular MR sequence, MyoFold, designed for the simultaneous quantifications of myocardial tissue composition and wall motion. METHODS: MyoFold is designed as a 2D single breathing-holding sequence, integrating joint T1/T2 mapping and cine imaging. The sequence uses a 2-fold accelerated balanced SSFP (bSSFP) for data readout and incorporates electrocardiogram synchronization to align with the cardiac cycle. MyoFold initially acquires six single-shot inversion-recovery images, completed during the diastole of six successive heartbeats. T2 preparation (T2-prep) is applied to introduce T2 weightings for the last three images. Subsequently, over the following six heartbeats, segmented bSSFP is performed for the movie of the entire cardiac cycle, synchronized with an electrocardiogram. A neural network trained using numerical simulations of MyoFold is used for T1 and T2 calculations. MyoFold was validated through phantom and in vivo experiments, with comparisons made against MOLLI, SASHA, T2-prep bSSFP, and the conventional cine. RESULTS: In phantom studies, MyoFold exhibited a 10% overestimation in T1 measurements, whereas T2 measurements demonstrated high accuracy. In vivo experiments revealed that MyoFold T1 had comparable accuracy to SASHA and precision similar to MOLLI. MyoFold demonstrated good agreement with T2-prep bSSFP in myocardial T2 measurements. No significant differences were observed in the quantification of left-ventricle wall thickness and function between MyoFold and the conventional cine. CONCLUSION: MyoFold presents as a rapid, simple, and multitasking approach for quantitative cardiovascular MR examinations, offering simultaneous assessment of tissue composition and wall motion. The sequence's multitasking capabilities make it a promising tool for comprehensive cardiac evaluations in clinical settings.

Evaluating the influence of altered cerebral hemodynamics on cognitive performance in asymptomatic carotid artery stenosis: A systematic review.

OBJECTIVE: Substantial controversy exists regarding asymptomatic carotid stenosis (ACS) and its potential role in the pathophysiology of cognitive impairment. If proven, this hypothesis may suggest an additional definition for symptomatic carotid disease that would alter current management. This study aimed to synthesize the literature evaluating the relationship between impaired cerebral hemodynamics and cognition in patients with ACS. METHODS: A literature search was performed using MEDLINE, Embase, and EBM Reviews through May 2022. We included prospective case-control studies that used validated, objective measure(s) of either global cognition or one or more domains of cognitive function and assessed cerebrovascular reserve (CVR). RESULTS: Five studies were included, comprising a total of 782 patients with moderate (50%-69%) to severe (70%-99%) ACS. Patients with ACS and impaired ipsilateral CVR demonstrated significant cognitive impairment compared with controls. Patients with unilateral or bilateral ACS and normal CVR had cognitive scores similar to controls. Those with bilateral CVR impairment demonstrated the lowest cognitive scores. CONCLUSIONS: This review lends support to the claim that cognitive impairment, likely the result of impaired cerebral hemodynamics, is an under-recognized morbidity in patients with ACS. CVR may serve as an additional tool to determine whether patients are in fact symptomatic from their carotid stenosis and warrant consideration for intervention.

Breathing patterns and associated cardiovascular changes in intermittently breathing animals: (Partially) correcting a semantic quagmire.

Many animal species do not breathe in a continuous, rhythmic fashion, but rather display a variety of breathing patterns characterized by prolonged periods between breaths (inter-breath intervals), during which the heart continues to beat. Examples of intermittent breathing abound across the animal kingdom, from crustaceans to cetaceans. With respect to human physiology, intermittent breathing-also termed 'periodic' or 'episodic' breathing-is associated with a variety of pathologies. Cardiovascular phenomena associated with intermittent breathing in diving species have been termed 'diving bradycardia', 'submersion bradycardia', 'immersion bradycardia', 'ventilation tachycardia', 'respiratory sinus arrhythmia' and so forth. An examination across the literature of terminology applied to these physiological phenomena indicates, unfortunately, no attempt at standardization. This might be viewed as an esoteric semantic problem except for the fact that many of the terms variously used by different authors carry with them implicit or explicit suggestions of underlying physiological mechanisms and even human-associated pathologies. In this article, we review several phenomena associated with diving and intermittent breathing, indicate the semantic issues arising from the use of each term, and make recommendations for best practice when applying specific terms to particular cardiorespiratory patterns. Ultimately, we emphasize that the biology-not the semantics-is what is important, but also stress that confusion surrounding underlying mechanisms can be avoided by more careful attention to terms describing physiological changes during intermittent breathing and diving.

The role of cognition as a factor regulating the diving responses of animals, including humans.

The dive response involves three main components - breath holding, reduced heart rate and increased peripheral vasoconstriction - and is ubiquitous during forced dives in air-breathing vertebrates; however, numerous studies in free-diving animals have shown that the heart rate response to diving varies considerably in a manner that suggests cognitive control. Furthermore, studies on free-diving animals and controlled experiments in trained animals both indicate that the dive response can be conditioned, such that the reduction in heart rate begins before submergence and the extent of the reduction is set early in the dive. In addition, numerous species also experience an increase in heart rate and blood flow during ascent at the end of a dive, a phenomenon commonly called 'ascent tachycardia'. Collectively, these data suggest that although the dive response is under autonomic control, many species can vary its magnitude depending on the length and type of the planned dive - an indication of a role for cognition in the overall physiological responses associated with diving. Here, we provide examples of the conditioned cardiac responses - including anticipatory changes in heart rate - in several diving species and propose potential underlying mechanisms. We also discuss how the anticipatory cardiovascular responses not only improve diving capacity, but also prevent diving-related problems, such as decompression sickness or barotrauma, through a mechanism described by the selective gas exchange hypothesis.

The use of the Roth score in emergency department for patients with acute exacerbation of chronic obstructive pulmonary disease.

INTRODUCTION: This study investigated the feasibility of using the Roth score in the emergency setting to make hospitalization or discharge decisions for patients with acute exacerbations of chronic obstructive pulmonary disease (AECOPD). MATERIALS AND METHODS: This study was conducted prospectively between March 1, 2023 and January 1, 2024 and included 101 patients with Group E chronic obstructive pulmonary disease who were treated in the emergency department of a tertiary hospital. The patients were categorized into two groups: those who were hospitalized and those who were discharged. The Roth score, determined by measuring patients' breath-holding times after forced inspiration and counting rhythmically, was measured in seconds and counted. Changes in Roth scores, arterial blood gas parameters, and transcutaneous oxygen saturation levels measured during AECOPD presentation and after appropriate treatment were examined. RESULTS: The study included 101 patients (57 males, 44 females) with a mean age of 61.4 years. After AECOPD treatment, the area under the curve for the Roth score was 0.937 s for the duration and 0.969 for the count. At a cut-off value of 9.5 s, the Roth score in seconds had a sensitivity of 92 % and a specificity of 75 %. At a cut-off value of 10.5, the Roth score had a sensitivity of 97 % and a specificity of 70 %. CONCLUSION: The Roth score (only counts) increased in discharged patients after AECOPD treatment. It appears to be a viable method for predicting hospitalization or discharge decisions in patients with AECOPD who present to the emergency department.

Multimodal physiological correlates of dyspnea ratings during breath-holding in healthy humans.

INTRODUCTION AND OBJECTIVES: Dyspnea is associated with fear and intense suffering and is often assessed using visual analog scales (VAS) or numerical rating scales (NRS). However, the physiological correlates of such ratings are not well known. Using the voluntary breath-holding model of induced dyspnea, we studied healthy volunteers to investigate the temporal relationship between dyspnea, the neural drive to breathe assessed in terms of involuntary thoracoabdominal movements (ITMs) and neurovegetative responses. PARTICIPANTS AND METHODS: Twenty-three participants (10 men; median [interquartile range] age 21 [20-21]) performed three consecutive breath-holds with the continuous assessment of dyspnea (urge-to-breathe) using a 10 cm VAS, thoracic and abdominal circumferences measured with piezoelectric belt-mounted transducers, heart rate and heart rate variability (HRV), and galvanic skin response (GSR). Urge-to-breathe VAS at the onset of ITMs (gasping point) was identified visually or algorithmically. RESULTS: Urge-to-breathe VAS at the end of the breath-hold was 9.7 [8.6-10] cm. Total breath-hold duration was 93 [69-130] s. Urge-to-breathe VAS, ITM, heart rate, HRV, and GSR significantly increased during breath-hold. Urge-to-breathe VAS correlated with the magnitude of the thoracic and abdominal movements (rho = 0.51 and rho = 0.59, respectively, p < 0.001). The urge-to-breathe ratings corresponding with ITM onset were 3.0 [2.0-4.7] cm and 3.0 [1.0-4.0] cm for visual and algorithmic detection, respectively (p = 0.782). CONCLUSION: An urge-to-breathe VAS of 3 cm (30% of full scale on a 10 cm VAS) corresponds to a physiological turning point during the physiological response to voluntary breath-holding in healthy humans.

Overuse of EEG and ECG in children with breath-holding spells and its implication for the management of the spells.

AIM: Breath-holding spells (BHS) are common in children, but evidence-based clinical guidelines are lacking. We investigated a large population-based cohort of BHS patients, to propose a refined description of typical BHS and guidelines for its management. METHODS: In a cross-sectional retrospective study, patients diagnosed with BHS in Southern Sweden 2004-2018 were recruited. Disease characteristics and diagnostic data were collected from patient medical records. RESULTS: In total, 519 patients, mean age at diagnosis 19.8 ± 13.8 months with equal gender distribution, were included. In 48.3%, BHS had already been diagnosed after one spell. During spells, 78.0% of patients were unresponsive. For 71.5%, atonic, tonic, tonic-clonic or myoclonic seizures were reported, and 78.0% of patients had a spell lasting less than 1 min. Electroencephalography was conducted in 30.4% and Electrocardiography in 45.1%. Six children (3.8%) had a pathological electroencephalogram, four of which had concomitant epilepsy and only 0.9% of children had electrocardiogram findings suggesting pathology, none showing long QT syndrome. CONCLUSION: Children with BHS were frequently subjected to unnecessary diagnostic interventions. We characterise a typical presentation of BHS and propose a management-algorithm, which is expected to reduce unnecessary usage of electroencephalography and electrocardiography.

Physical and Physiological Predictors Determining the Maximal Static Apnea Diving Time of Male Freedivers.

This study aimed to investigate what factors determine freedivers' maximal static apnea dive time. We correlated some physical/physiological factors with male freedivers' maximum apnea diving duration. Thirty-six experienced male freedivers participated in this study. The divers participated in two days of the experiments. On the first day, apnea diving time, blood oxygen saturation (SpO2), heart rate (HR), blood pressure (BP), stress index, and blood parameters were measured before, during, and after the apnea diving in the pool. On the second day, body composition, lung capacity, resting and maximal oxygen consumption (VO2max), and the Wingate anaerobic power were measured in the laboratory. The data were analyzed with Pearson's Correlation using the SPSS 22 program. The correlation coefficient (R) of determination was set at 0.4, and the level of significance was set at p <0.05. There were positive correlations of diving experience, maximum SpO2, and lung capacity with the maximum apnea time R>0.4, P<0.05). There were negative correlations of BMI, body fat percentage, body fat mass, minimum SpO2, stress index, and total cholesterol with the maximum apnea diving time (R>-0.4, P<0.05). No correlations of age, height, weight, fat-free mass, skeletal muscle mass, HR, BP, blood glucose, beta- hydroxybutyrate, lactate, and hemoglobin levels with the maximum apnea diving time were observed (R<0.4, P>0.05). It is concluded that more experience in freediving, reduced body fat, extended SpO2 range, and increased lung capacity are the performance predictors and beneficial for freedivers to improve their maximum apnea diving performance.

[Functional recovery in older inpatients with hypertension and ischemic heart disease post-COVID-19.]

Understanding the recovery process of functional abilities post-COVID-19 in older inpatients with arterial hypertension and ischemic heart disease is important for optimising healthcare delivery and resources. Participants in this study were individuals undergoing hospital-based rehabilitation following COVID-19 (average age 66, n=183). They were categorised into groups with arterial hypertension (n=92), ischemic heart disease (n=18), both conditions (n=38), and a control group without these diseases (n=35). Functional abilities were assessed via the distance walked until signs of exhaustion (meters), handgrip strength (kilograms), and breath-holding time (seconds). Multiple regression analysis revealed that inpatients with arterial hypertension walked shorter distances (ß=-19,183; p=0,050) but showed higher handgrip strength (ß=3,735; p=0,025) compared to the control group. Post-rehabilitation, inpatients with hypertension demonstrated greater performance (ß=40,435, p=0,024) and better improvement rates (ß=47,337; p=0,016) in walked distance than those in the control group. Significant interaction effects between groups and pre-/post-rehabilitation changes were observed only for walking distance (ß=34,74; p=0,02), with no significant interactions found for other measures. The findings indicate that older inpatients with arterial hypertension may experience comparable or enhanced recovery of functional abilities post-COVID-19. The presence of ischemic heart disease, alone or combined with hypertension, does not significantly impair rehabilitation outcomes compared to those without such conditions.

Effect of surgical mask and N95 respirator mask use on cerebrovascular reactivity.

Background and purpose:

Face masks are crucial parts of personal protective equipment (PPE) to reduce the risk of respiratory infections. The COVID-19 outbreak has increased healthcare workers’ use of face masks. This study aimed to evaluate changes in cerebrovascular response among healthcare workers using surgical and N95 respirator masks. 

90 healthcare workers: 30 wearing surgical masks, 30 wearing N95 respirators, and 30 without masks were included. After two-hour of face mask use, the baseline mean flow velocity (MFV) and the mean breath-holding index (BHI) of the bilateral middle cerebral arteries (MCAs) were evaluated with transcranial Doppler ultrasound. The presence of de-novo headache was recorded. BHI values ​​below 0.69 were evaluated as a sign of impaired cerebrovascular reactivity (CVR). 

The rate of de-novo headache was significantly higher in the N95 respirator mask group (p = 0.004). Compared to the control and surgical mask groups, the N95 respirator mask group had significantly lower values of the baseline MFV of the right MCA (p = 0.003 and p = 0.021, respectively) and mean BHI (p = 0.003 and p = 0.012, respectively). Still, only one N95 respirator mask user had a mean BHI value below 0.69.

Surgical masks did not signi­fi­cantly affect cerebral hemodynamics. Although N95 respirator mask use significantly decreased BHI values, the CVR is still within normal limits, and the development of de-novo headache is not directly associated with low CVR. 

CT annulus sizing prior to transcatheter aortic valve replacement (TAVR): evaluation of free-breathing versus breath-holding acquisition.

OBJECTIVES: To assess feasibility and accuracy of aortic annulus measurements using cardiac computed tomography angiography (CTA) performed during free-breathing prior to transcatheter aortic valve replacement (TAVR). MATERIALS AND METHODS: Sixty consecutive TAVR candidates underwent free-breathing wide-detector cardiac CTA, followed by a percutaneous valve replacement. For each, a theoretical valve size was suggested through CT measurements of the annulus, then compared to the size of the actual implanted transcatheter heart valve (THV). The procedural success and the 30-day outcomes were collected. Image quality of the annulus was also studied according to subjective and objective criteria. Data of a control group of 60 patients previously evaluated on breath-holding were also evaluated. RESULTS: A total of 120 patients (mean age, 83 years ± 7, 60 men) were evaluated. All CT acquisitions provided sufficient image quality allowing precise annulus measurements. Mean attenuation (p < 0.001) and image noise (p = 0.01) were higher in the free-breathing group, while image quality was comparable (p = 0.36). The agreement rate between CT-suggested valve size and THV implanted size was comparable, estimated at 87% (κ = 0.79, 95%CI 0.566, 0.908) on free-breathing vs. 82% (κ = 0.78, 95%CI 0.634, 0.904) on breath-holding. The procedure was successful for all patients without increase in 30-day mortality or adverse events. CONCLUSIONS: Free-breathing cardiac CTA allows accurate aortic annulus measurements without compromising image quality or patients' outcome after TAVR. Elderly patients experiencing dyspnea, discomfort, or hearing loss that could prevent proper breath-holding should not be excluded from CT prior to TAVR. CLINICAL RELEVANCE STATEMENT: To decrease elderly patients' discomfort, MDCT evaluation prior to transcatheter aortic valve replacement (TAVR) may be performed on quiet breathing with no significant impact on the outcome. KEY POINTS: • Adhering to CT breathing commands can be challenging for patients with dyspnea, hearing impairment, agitation, or pulmonary diseases. • Free-breathing cardiac CT may be an alternative to breath-holding for patients unable to follow the breathing commands. • Wide-detector CT acquisition on free-breathing does not impair annulus measurements and prosthesis sizing in patients scheduled for TAVR.

Predicting the image quality of respiratory-gated and breath-hold 3D MRCP from the breathing curve: a prospective study.

OBJECTIVES: To compare the image quality of breath-hold magnetic resonance cholangiopancreatography (BH-MRCP) and respiratory-gating MRCP (RG-MRCP), and to explore breathing curve-based factors and patient-related data affecting image quality. METHODS: A total of 126 participants who underwent RG-MRCP and BH-MRCP on a 3-T magnetic resonance (MR) scanner were enrolled from May to December 2021. The images were evaluated by three radiologists on a 5-point scale. Respiratory parameters were extracted from the breathing curves. The Wilcoxon test was used to compare the image quality between the two MRCPs. Logistic regression analyzes were performed to identify age, sex, abdominal pain, and breathing predictor variables of better image quality. RESULTS: BH-MRCP performed better in visualizing intrahepatic bile ducts and overall image quality than RG-MRCP (p < 0.01). Factors predicting relatively good image quality included lower standard deviation of the respiratory amplitude (SDamp)-minimum-peak (odds ratio = 0.16, p < 0.01) for RG-MRCP and lower SDamp (OR = 0.69, p < 0.01) for BH-MRCP. CONCLUSIONS: BH-MRCP had significantly better overall image quality than RG-MRCP. Respiratory conditions exerted a significant impact on MRCP image quality, and parameters derived from the breathing curve could help predict the image quality of both sequences. KEY POINTS: • Both breath-hold (BH) and respiratory-gating (RG) MRCP demonstrate satisfying image quality. • BH-GRASE-MRCP is significantly better than RG-MRCP at the group level, but not for every individual. • Respiratory conditions exert a significant impact on the image quality, and the breathing curve can help predict the image quality.

Subject-Specific Activation of Central Respiratory Centers during Breath-Holding Functional Magnetic Resonance Imaging.

BACKGROUND: Voluntary breath-holding (BH) triggers responses from central neural control and respiratory centers in order to restore breathing. Such responses can be observed using functional MRI (fMRI). OBJECTIVES: We used this paradigm in healthy volunteers with the view to develop a biomarker that could be used to investigate disorders of the central control of breathing at the individual patient level. METHOD: In 21 healthy human subjects (mean age±SD, 32.8 ± 9.9 years old), fMRI was used to determine, at both the individual and group levels, the physiological neural response to expiratory and inspiratory voluntary apneas, within respiratory control centers in the brain and brainstem. RESULTS: Group analysis showed that expiratory BH, but not inspiratory BH, triggered activation of the pontine respiratory group and raphe nuclei at the group level, with a significant relationship between the levels of activation and drop in SpO2. Using predefined ROIs, expiratory BH, and to a lesser extent, inspiratory BH were associated with activation of most respiratory centers. The right ventrolateral nucleus of the thalamus, right pre-Bötzinger complex, right VRG, right nucleus ambiguus, and left Kölliker-Fuse-parabrachial complex were only activated during inspiratory BH. Individual analysis identified activations of cortical/subcortical and brainstem structures related to respiratory control in 19 out of 21 subjects. CONCLUSION: Our study shows that BH paradigm allows to reliably trigger fMRI response from brainstem and cortical areas involved in respiratory control at the individual level, suggesting that it might serve as a clinically relevant biomarker to investigate conditions associated with an altered central control of respiration.

Cerebrovascular Phenotype in Fabry Disease Patients Assessed by Ultrasound.

OBJECTIVES: Fabry disease (FD) is a rare X-linked lysosomal storage disorder with variable phenotypes, including neurological symptoms. These can be influenced by vascular impairment. Extracranial and transcranial vascular sonography is an effective and noninvasive method for measuring arterial structures and blood flow. The study aims to investigate cerebrovascular phenotype characteristics in FD patients compared to controls using neurosonology. METHODS: This is a single-center, cross-sectional study of 130 subjects-65 patients (38 females), with genetically confirmed FD, and 65 sex- and age-matched controls. Using ultrasonography, we measured structural and hemodynamic parameters, including distal common carotid artery intima-media thickness, inner vertebral artery diameter, resting blood flow velocity, pulsatility index, and cerebral vasoreactivity (CVR) in the middle cerebral artery. To assess differences between FD and controls and to identify factors influencing investigated outcomes, unadjusted and adjusted regression analyses were performed. RESULTS: In comparison to sex- and age-matched controls, FD patients displayed significantly increased carotid artery intima-media thickness (observed FD 0.69 ± 0.13 mm versus controls 0.63 ± 0.12 mm; Padj = .0014), vertebral artery diameter (observed FD 3.59 ± 0.35 mm versus controls 3.38 ± 0.33 mm; Padj = .0002), middle cerebral artery pulsatility index (observed FD 0.98 ± 0.19 versus controls 0.87 ± 0.11; Padj < .0001), and significantly decreased CVR (observed FD 1.21 ± 0.49 versus controls 1.35 ± 0.38; Padj = .0409), when adjusted by age, BMI, and sex. Additionally, FD patients had significantly more variable CVR (0.48 ± 0.25 versus 0.21 ± 0.14; Padj < .0001). CONCLUSIONS: Our results suggest the presence of multiple vascular abnormalities and changes in hemodynamic parameters of cerebral arteries in patients with FD.

Wavelet Analysis of Respiratory Muscle sEMG Signals during the Physiological Breakpoint of Static Dry End-Expiratory Breath-Holding in Naive Apneists: A Pilot Study.

The wavelet spectral characteristics of three respiratory muscle signals (scalenus (SC), parasternal intercostal (IC), and rectus abdominis (RA)) and one locomotor muscle (brachioradialis (BR)) were analyzed in the time-frequency (T-F) domain during voluntary breath-holding (BH), with a focus on the physiological breakpoint that is commonly considered the first involuntary breathing movement (IBM) that signals the end of the easy-going phase of BH. The study was performed for an end-expiratory BH physiological breaking point maneuver on twelve healthy, physically active, naive breath-holders/apneists (six professional athletes; six recreational athletes, and two individuals in the post-COVID-19 period) using surface electromyography (sEMG). We observed individual effects that were dependent on muscle oxygenation and each person's fitness, which were consistent with the mechanism of motor unit (MU) recruitment and the transition of slow-twitch oxidative (type 1) to fast-twitch glycolytic (type 2) muscle fibers. Professional athletes had longer BH durations (BHDs) and strong hypercapnic responses regarding the expiratory RA muscle, which is activated abruptly at higher BHDs in a person-specific range below 250 Hz and is dependent on the BHD. This is in contrast with recreational athletes, who had strong hypoxic responses regarding inspiratory IC muscle, which is activated faster and gradually in the frequency range of 250-450 Hz (independent of the person and BHD). This pilot study preliminarily indicates that it is possible to noninvasively assess the physiological characteristics of skeletal muscles, especially oxygenation, and improve physical fitness tests by determining the T-F features of elevated myoelectric IC and RA activity during BH.

Evaluation of Cerebral Vasomotor Reactivity by Transcranial Doppler Ultrasound in Patients with Diabetic Retinopathy.

The aim of this study was to assess the correlation between cerebral vasomotor reactivity (CVR) and the grade of diabetic retinopathy. A total of 43 diabetic patients with matched severity of diabetic retinopathy between their right and left eyes were included in this study. Diabetic retinopathy was graded in three groups. Right and left middle cerebral artery CVR was assessed by the breath-holding index (BHI) using transcranial Doppler ultrasound (TCD). The mean age of the patients was 56.51 ± 9.34 years with a mean duration of having diabetes mellitus of 14.49 ± 8.06 years. Diabetic retinopathy was graded as mild, moderately severe, and severe in 27.9%, 34.9%, and 37.2% of the patients, respectively. The grade of diabetic retinopathy was associated with the HbA1c level (p < .049), microalbuminuria (p < .024), and BHI (p = .001). In patients with severe diabetic retinopathy, the right-sided BHI was significantly lower as compared to those with mild or moderately severe retinopathy (p = .001 and p = .008, respectively). The left-sided BHI value in patients with severe diabetic retinopathy was significantly lower as compared to those with mild or moderately severe retinopathy (p = .001 and p = .012, respectively). In subjects with moderately severe diabetic retinopathy, both-sided BHI was significantly reduced compared to those with mild retinopathy (p = .001). Our results indicate that the grade of diabetic retinopathy was associated with impaired CVR.

Separating spin compartments in arterial spin labeling using delays alternating with nutation for tailored excitation (DANTE) pulse: A validation study using T2 -relaxometry and application to arterial cerebral blood volume imaging.

PURPOSE: To clarify the type of spin compartment in arterial spin labeling (ASL) that is eliminated by delays alternating with nutation for tailored excitation (DANTE) pulse using T2 -relaxometry, and to demonstrate the feasibility of arterial cerebral blood volume (CBVa ) imaging using DANTE-ASL in combination with a simplified two-compartment model. METHOD: The DANTE and T2 -preparation modules were combined into a single ASL sequence. T2 values under the application of DANTE were determined to evaluate changes in T2 , along with the post-labeling delay (PLD) and the relationship between transit time without DANTE (TTnoVS ) and T2 . The reference tissue T2 (T2_ref ) was also obtained. Subsequently, the DANTE module was embedded into the Hadamard-encoded ASL. Cerebral blood flow (CBF) and CBVa were computed using two Hadamard-encoding datasets (with and without DANTE) in a rest and breath-holding (BH) task. RESULTS: While T2 without DANTE (T2_noVS ) decreased as the PLD increased, T2 with DANTE (T2_DANTE ) was equivalent to T2_ref and did not change with the PLD. Although there was a significant positive correlation between TTnoVS and T2_noVS with short PLD, T2_DANTE was not correlated with TTnoVS nor PLD. Baseline CBVa values obtained at rest were 0.64 ± 0.12, 0.64 ± 0.11, and 0.58 ± 0.15 mL/100 g for anterior, middle, and posterior cerebral arteries, respectively. Significant CBF and CBVa elevations were observed in the BH task. CONCLUSION: Microvascular compartment signals were eliminated from the total ASL signals by DANTE. CBVa can be measured using Hadamard-encoded DANTE-ASL in combination with a simplified two-compartment model.

Utility of the breath-holding test in patients with systemic sclerosis.

OBJECTIVES: Cardiopulmonary involvement is a major cause of death in patients with SSc. This study evaluated the clinical utility and reliability of breath-holding test (BHT) in evaluating cardiopulmonary function in patients with SSc. METHODS: Seventy-two prospectively enrolled patients with SSc underwent BHT and the 6 min walk test (6MWT), along with measurements of the Borg dyspnoea scale and Scleroderma Health Assessment Questionnaire (SHAQ). Data on pulmonary function test and echocardiography were also collected. Validity was assessed based on the correlations between the best BHT and relevant clinical parameters. To assess the reliability of BHT, an additional 31 patients with SSc underwent BHTs twice within 2 week intervals. RESULTS: Mean (s.d.) best BHT time was 38.4 (15.7) s, and 6MWT distance was 473.5 (95.5) m. BHT showed significant correlations with the Borg dyspnoea scale before (r = -0.367, P < 0.001) and after (r = -0.285, P = 0.016) testing, whereas 6MWT were correlated with the Borg dyspnoea scale after (r = -0.351, P = 0.002) but not before (r = -0.113, P = 0.343) testing. BHT time was correlated with diffusing capacity for carbon monoxide (%, r = 0.426, P < 0.001), forced vital capacity (litres, r = 0.373, P = 0.001), pulmonary arterial systolic pressure (mmHg, r = -0.272, P = 0.031) and SHAQ score (r = -0.470, P < 0.001), but not with left ventricular ejection fraction (%, r = -0.135, P = 0.263). BHT showed excellent reliability, with an intraclass correlation coefficient (2, 1) of 0.943 (95% CI: 0.88, 0.97). CONCLUSION: BHT, a simple and less time-consuming test, shows excellent reliability and significant correlation with the Borg scale, SHAQ and pulmonary parameters. These results suggest that BHT might be a useful surrogate marker of pulmonary capacity in SSc patients. TRIAL REGISTRATION NUMBER: NCT04484948.

Evaluation of a single-breath-hold radial turbo-spin-echo sequence for T2 mapping of the liver at 3T.

OBJECTIVES: T2 mapping of the liver is a potential diagnostic tool, but conventional techniques are difficult to perform in clinical practice due to long scan time. We aimed to evaluate the accuracy of a prototype radial turbo-spin-echo (rTSE) sequence, optimized for multi-slice T2 mapping in the abdomen during one breath-hold at 3 T. METHODS: A multi-sample (fat: 0-35%) agarose phantom doped with MnCl2 and 80 subjects (73 patients undergoing abdomen MR examination and 7 healthy volunteers) were investigated. A radial turbo-spin-echo (rTSE) sequence with and without fat suppression, a Cartesian turbo-spin-echo (Cart-TSE) sequence, and a single-voxel multi-echo STEAM spectroscopy (HISTO) were performed in phantom, and fat-suppressed rTSE and HISTO sequences were performed in in vivo measurements. Two approaches were used to sample T2 values: manually selected circular ROIs and whole liver analysis with Gaussian mixture models (GMM). RESULTS: The rTSE-T2s values exhibited a strong correlation with Cart-TSE-T2s (R2 = 0.988) and with HISTO-T2s of water (R2 = 0.972) in phantom with an offset between rTSE and Cart-TSE maps (mean difference = 3.17 ± 1.18 ms). The application of fat suppression decreased T2 values, and the effect was directly proportional to the amount of fat. Measurements in patients yielded a linear relationship between rTSE- and HISTO-T2s (R2 = 0.546 and R2 = 0.580 for ROI and GMM, respectively). CONCLUSION: The fat-suppressed rTSE sequence allows for fast and accurate determination of T2 values of the liver, and appears to be suitable for further large cohort studies. KEY POINTS: •Radial turbo-spin-echo T2 mapping performs comparably to Cartesian TSE-T2 mapping, but an offset in values is observed in phantom measurements. •Fat-suppressed radial turbo-spin-echo T2 mapping is consistent with T2 of water as assessed by MRS in phantom measurements. •Fat-suppressed radial turbo-spin-echo sequence allows fast T2 mapping of the liver in a single breath-hold and is correlated with MRS-based T2 of water.

A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management.

BACKGROUND: Bainbridge-Ropers syndrome is caused by monoallelic ASXL3 variants on chromosome 18. Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Breath-holding spells with choreathetoid movements have been previously described. CASE PRESENTATION: We describe an 11-year old boy who has daily intractable seizures reported since birth, developmental delay, autistic features and feeding difficulties. He was eventually found to have de novo, heterozygous pathogenic variant (c.1612G > T, p.E538*) in the ASXL3 gene. He has frequent episodes of breath-holding accompanied by dystonic posturing with right leg extension and head turning without ictal EEG correlate. The breath-holding spells have been refractory to several medication trials including iron supplementation, acetazolamide, and desipramine. CONCLUSIONS: This case represents a more severe phenotype of Bainbridge-Ropers Syndrome than previously described with refractory breath-holding spells with dystonia, intractable epilepsy, and progressive cerebral/cerebellar atrophy. Breath-holding spells cause significant morbidity, are poorly understood, and have very limited treatment options.