Quantifying lumbar sagittal plane kinematics using a wrist-worn inertial measurement unit

Wearable sensors like inertial measurement units (IMUs), and those available as smartphone or smartwatch applications, are increasingly used to quantify lumbar mobility. Currently, wearable sensors have to be placed on the back to measure lumbar mobility, meaning it cannot be used in unsupervised environments. This study aims to compare lumbar sagittal plane angles quantified from a wrist-worn against that of a lumbar-worn sensor. Twenty healthy participants were recruited. An IMU was placed on the right wrist and the L3 spinal level. Participants had to position their right forearm on their abdomen, parallel to the floor. Three sets of three consecutive repetitions of flexion, and extension were formed. Linear mixed models were performed to quantify the effect of region (lumbar vs. wrist) on six outcomes [minimum, maximum, range of motion (ROM) of flexion and extension]. Only flexion ROM was significantly different between the wrist and lumbar sensors, with a mean of 4.54° (95% CI = 1.82°–7.27°). Across all outcomes, the maximal difference between a wrist-worn and lumbar-worn sensor was <8°. A wrist-worn IMU sensor could be used to measure gross lumbar sagittal plane mobility in place of a lumbar-worn IMU. This may be useful for remote monitoring during rehabilitation

Balance in Blind Subjects: Cane and Fingertip Touch Induce Similar Extent and Promptness of Stance Stabilization

Subjects with low vision often use a cane when standing and walking autonomously in everyday life. One aim of this study was to assess differences in the body stabilizing effect produced by the contact of the cane with the ground or by the fingertip touch of a firm surface. Another aim was to estimate the promptness of balance stabilization (or destabilization) on adding (or withdrawing) the haptic input from cane or fingertip. Twelve blind subjects and two subjects with severe visual impairment participated in two experimental protocols while maintaining the tandem Romberg posture on a force platform. In one protocol, subjects lowered the cane to a second platform on the ground and lifted it in sequence at their own pace. In the other protocol, they touched an instrumented pad with the index finger and withdrew the finger from the pad in sequence. In both protocols, subjects were asked to exert a force not granting mechanical stabilization. Under steady-state condition, the finger touch or the contact of the cane with the ground significantly reduced (to ∼78% and ∼86%, respectively) the amplitude of medio-lateral oscillation of the centre of foot pressure (CoP). Oscillation then increased when haptic information was removed. The delay to the change in body oscillation after the haptic shift was longer for addition than withdrawal of the haptic information (∼1.4 s and ∼0.7 s, respectively; p &lt; 0.001), but was not different between the two haptic conditions (finger and cane). Similar stabilizing effects of input from cane on the ground and from fingertip touch, and similar latencies to integrate haptic cue from both sources, suggest that the process of integration of the input for balance control is initiated by the haptic stimulus at the interface cane-hand. Use of a tool is as helpful as the fingertip input, and does not produce different stabilization. Further, the latencies to haptic cue integration (from fingertip or cane) are similar to those previously found in a group of sighted subjects, suggesting that integration delays for automatic balance stabilization are not modified by visual impairment. Haptic input from a tool is easily exploited by the neural circuits subserving automatic balance stabilization in blind people, and its use should be enforced by sensory-enhancing devices and appropriate training

Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy

Background: In facioscapulohumeral muscular dystrophy (FSHD), it is not known whether physical activity (PA) practiced at young age is associated with the clinical presentation of disease. To assess this issue, we performed a retrospective cohort study concerning the previous practice of sports and, among them, those with medium-high cardiovascular commitment in clinically categorized carriers of a D4Z4 reduced allele (DRA). Methods: People aged between 18 and 60 were recruited as being DRA carriers. Subcategory (classical phenotype, A; incomplete phenotype, B; asymptomatic carriers, C; complex phenotype, D) and FSHD score, which measures muscle functional impairment, were assessed for all participants. Information on PAs was retrieved by using an online survey dealing with the practice of sports at a young age. Results: 368 participants were included in the study, average age 36.6 years (SD = 9.4), 47.6% male. The FSHD subcategory A was observed in 157 (42.7%) participants with average (± SD) FSHD score of 5.8 ± 3.0; the incomplete phenotype (category B) in 46 (12.5%) participants (average score 2.2 ± 1.7) and the D phenotype in 61 (16.6%, average score 6.5 ± 3.8). Asymptomatic carriers were 104 (subcategory C, 28.3%, score 0.0 ± 0.2). Time from symptoms onset was higher for patients with A (15.8 ± 11.1 years) and D phenotype (13.3 ± 11.9) than for patients with B phenotype (7.3 ± 9.0). The practice of sports was associated with lower FSHD score (-17%) in participants with A phenotype (MR = 0.83, 95% CI = 0.73-0.95, p = 0.007) and by 33% in participants with D phenotype (MR = 0.67, 95% CI = 0.51-0.89, p = 0.006). Conversely, no improvement was observed in participants with incomplete phenotype with mild severity (B). Conclusions: PAs at a young age are associated with a lower clinical score in the adult A and D FSHD subcategories. These results corroborate the need to consider PAs at the young age as a fundamental indicator for the correct clinical stratification of the disease and its possible evolution

Management of pregnancy in autoimmune rheumatic diseases: maternal disease course, gestational and neonatal outcomes and use of medications in the prospectiveItalian P-RHEUM.it study

Objectives To investigate pregnancy outcomes in women with autoimmune rheumatic diseases (ARD) in the Italian prospective cohort study P-RHEUM.it. Methods Pregnant women with different ARD were enrolled for up to 20 gestational weeks in 29 Rheumatology Centres for 5 years (2018-2023). Maternal and infant information were collected in a web-based database. Results We analysed 866 pregnancies in 851 patients (systemic lupus erythematosus was the most represented disease, 19.6%). Maternal disease flares were observed in 135 (15.6%) pregnancies. 53 (6.1%) pregnancies were induced by assisted reproduction techniques, 61 (7%) ended in miscarriage and 11 (1.3%) underwent elective termination. Obstetrical complications occurred in 261 (30.1%) pregnancies, including 2.3% pre-eclampsia. Two cases of congenital heart block were observed out of 157 pregnancies (1.3%) with anti-Ro/SSA. Regarding treatments, 244 (28.2%) pregnancies were treated with glucocorticoids, 388 (44.8%) with hydroxychloroquine, 85 (9.8%) with conventional synthetic disease-modifying anti-rheumatic drugs and 122 (14.1%) with biological disease-modifying anti-rheumatic drugs. Live births were 794 (91.7%), mostly at term (84.9%); four perinatal deaths (0.5%) occurred. Among 790 newborns, 31 (3.9%) were small-for-gestational-age and 169 (21.4%) had perinatal complications. Exclusive maternal breast feeding was received by 404 (46.7%) neonates. The Edinburgh Postnatal Depression Scale was compiled by 414 women (52.4%); 89 (21.5%) scored positive for emotional distress. Conclusions Multiple factors including preconception counselling and treat-to-target with pregnancy-compatible medications may have contributed to mitigate disease-related risk factors, yielding limited disease flares, good pregnancy outcomes and frequency of complications which were similar to the Italian general obstetric population. Disease-specific issues need to be further addressed to plan preventative measures

Aspetti fisiologici e fisiopatologici dell\u2019integrazione sensorimotoria

My PhD program was mainly focused on the physiological and pathophysiological characteristics of sensorimotor integration. As part of this activity, I studied particular aspects of this topic in different populations of subjects: healthy young adults, visually impaired subjects, subjects suffering from Parkinson's disease and subjects suffering from cervical dystonia. Sensorimotor integration is a complex process that involves numerous central and peripheral nervous structures and is the basis of fundamental functions including the perception of the body in space and maintaining balance both in static and dynamic conditions. In the various studies published during the PhD program, I was able to investigate the stabilizing effects on the equilibrium of the haptic afference provided indirectly in the healthy young adult subject. Subsequently, we studied the effect of the stabilization given by the indirect haptic afference in blind and partially sighted subjects, then comparing the results with those obtained by providing the subjects with a direct haptic afference. Still on healthy young adult subjects, we investigated the effects of unilateral proprioceptive stimulation of the axial muscles on the podokinetic reflex, elicited by stepping in place on a rotating platform. In subjects suffering from Parkinson's disease, we evaluated the efficiency of the postural stabilization mechanisms necessary to counteract the perturbations induced by the motor resonance effect. In subjects suffering from cervical dystonia, we studied the characteristics of proprioceptive accuracy in the dystonic body segment and in a body segment not affected by the disease. In addition, a further study on a population of subjects suffering from cervical dystonia is currently under review, this time concerning the balance and kinematic characteristics of gait. The purpose of this thesis is to summarize the scientific activity of my PhD program

Effects of essential amino acid (EAA) and glutamine supplementation on skeletal muscle wasting in acute, subacute, and postacute conditions

: Under optimal physiological conditions, muscle mass maintenance is ensured by dietary protein, which balances the amino acid loss during the post-absorption period and preserves the body's protein homeostasis. Conversely, in critical clinical conditions (acute, subacute or postacute), particularly those related to hypomobility or immobility, combined with malnutrition, and local/systemic inflammation, the loss of muscle mass and strength can be quantitatively significant. A decline of more than 1% in muscle mass and of more than 3% in muscle strength has been registered in subjects with aged 20-37 yr after just five days of bed rest, similarly to those observed during one year of age-related decline in individuals over the age of 50. Loss of muscle mass and strength can have a dramatic effect on subjects' functional capacities, on their systemic metabolic control and on the amino acid reserve function, all of which are fundamental for the maintenance of other organs' and tissues' cell processes. References available indicate that the average 1%-2% reduction per day of muscle mass in patients in the intensive care unit (ICU) could represent an independent predictor of hospital mortality and physical disability in the five years following hospitalization. After just a few days or weeks of administration, supplementation with EAAs and glutamine has shown significant effects in maintaining muscle size and strength, which are typically negatively affected by some acute/subacute or postacute critical conditions (muscle recovery after surgery, oncology patients, ICU treatments), especially in the elderly or in those with pre-existing degenerative diseases. In this review, we focused on the theoretical bases and the most relevant clinical studies of EAA and glutamine supplementation as a single compound, with the aim of clarifying whether their combined use in a blend (EAAs-glutamine) could be potentially synergistic to prevent disease-related muscle wasting and its impact on the duration and quality of patients' clinical course

Haptic Cues for Balance: Use of a Cane Provides Immediate Body Stabilization

Haptic cues are important for balance. Knowledge of the temporal features of their effect may be crucial for the design of neural prostheses. Touching a stable surface with a fingertip reduces body sway in standing subjects eyes closed (EC), and removal of haptic cue reinstates a large sway pattern. Changes in sway occur rapidly on changing haptic conditions. Here, we describe the effects and time-course of stabilization produced by a haptic cue derived from a walking cane. We intended to confirm that cane use reduces body sway, to evaluate the effect of vision on stabilization by a cane, and to estimate the delay of the changes in body sway after addition and withdrawal of haptic input. Seventeen healthy young subjects stood in tandem position on a force platform, with eyes closed or open (EO). They gently lowered the cane onto and lifted it from a second force platform. Sixty trials per direction of haptic shift (Touch → NoTouch, T-NT; NoTouch → Touch, NT-T) and visual condition (EC-EO) were acquired. Traces of Center of foot Pressure (CoP) and the force exerted by cane were filtered, rectified, and averaged. The position in space of a reflective marker positioned on the cane tip was also acquired by an optoelectronic device. Cross-correlation (CC) analysis was performed between traces of cane tip and CoP displacement. Latencies of changes in CoP oscillation in the frontal plane EC following the T-NT and NT-T haptic shift were statistically estimated. The CoP oscillations were larger in EC than EO under both T and NT (p &lt; 0.001) and larger during NT than T conditions (p &lt; 0.001). Haptic-induced effect under EC (Romberg quotient NT/T ~ 1.2) was less effective than that of vision under NT condition (EC/EO ~ 1.5) (p &lt; 0.001). With EO cane had little effect. Cane displacement lagged CoP displacement under both EC and EO. Latencies to changes in CoP oscillations were longer after addition (NT-T, about 1.6 s) than withdrawal (T-NT, about 0.9 s) of haptic input (p &lt; 0.001). These latencies were similar to those occurring on fingertip touch, as previously shown. Overall, data speak in favor of substantial equivalence of the haptic information derived from both “direct” fingertip contact and “indirect” contact with the floor mediated by the cane. Cane, finger and visual inputs would be similarly integrated in the same neural centers for balance control. Haptic input from a walking aid and its processing time should be considered when designing prostheses for locomotion

Fatigue in Spinal Muscular Atrophy: a fundamental open issue

: Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research