Spinal Postures and Mobility in Children with Achondroplasia vs. Age- and Sex-Matched Healthy Individuals: A Preliminary Report.

Background: Achondroplasia is a rare genetic disease, yet the most common form of dwarfism, characterized by limb shortening and disproportionate short stature along with musculoskeletal changes, such as postural deviations. Although postural changes in the spine in children with achondroplasia have been well investigated, little is known about the association of achondroplasia with spinal movements/mobility. Methods: This preliminary study aims to explore the association of achondroplasia with spinal mobility in children with achondroplasia compared to age- and sex-matched healthy individuals. Spinal posture and mobility were assessed using a radiation-free back scan, the Idiag M360 (Idiag, Fehraltorf, Switzerland). Between-group differences were determined using a two-way analysis of variance. Results: Children with achondroplasia had smaller thoracic lateral flexion [difference between groups (Δ) = 20.4°, 95% CI 0.1°-40.6°, p = 0.04], lumbar flexion (Δ = 17.4°, 95% CI 5.5°-29.4°, p = 0.006), lumbar extension (Δ = 14.2°, 95% CI 5.7°-22.8°, p = 0.002) and lumbar lateral flexion (Δ = 19.6°, 95% CI 10.7°-28.4°, p < 0.001) than age- and sex-matched healthy individuals, except for thoracic extension (Δ = 16.5°, 95% CI 4.4°-28.7°, p = 0.009) which was greater in children with achondroplasia. No differences were observed in global spinal postures between the two groups. Conclusions: Spinal mobility appears to be more influenced by achondroplasia than global spinal postures in childhood. These results also highlight the importance of considering the musculoskeletal assessment of segmental spinal postures and rehabilitative interventions aimed at promoting spinal flexibility in children with achondroplasia.

Limb Volume Measurements: A Comparison of Circumferential Techniques and Optoelectronic Systems against Water Displacement.

BACKGROUND: Accurate measurements of limb volumes are important for clinical reasons. We aimed to assess the reliability and validity of two centimetric and two optoelectronic techniques for limb volume measurements against water volumetry, defined as the gold standard. METHODS: Five different measurement methods were executed on the same day for each participant, namely water displacement, fixed-height (circumferences measured every 5 (10) cm for the upper (lower limb) centimetric technique, segmental centimetric technique (circumferences measured according to proportional height), optoelectronic plethysmography (OEP, based on a motion analysis system), and IGOODI Gate body scanner technology (which creates an accurate 3D avatar). RESULTS: A population of 22 (15 lower limbs, 11 upper limbs, 8 unilateral upper limb lymphoedema, and 6 unilateral lower limb lymphoedema) participants was selected. Compared to water displacement, the fixed-height centimetric method, the segmental centimetric method, the OEP, and the IGOODI technique resulted in mean errors of 1.2, 0.86, -16.0, and 0.71%, respectively. The corresponding slopes (and regression coefficients) of the linear regression lines were 1.0002 (0.98), 1.0047 (0.99), 0.874 (0.94) and 0.9966 (0.99). CONCLUSION: The centimetric methods and the IGOODI system are accurate in measuring limb volume with an error of <2%. It is important to evaluate new objective and reliable techniques to improve diagnostic and follow-up possibilities.

20 years of neuromuscular electrical stimulation in COPD.

Although a lung disease, COPD is also associated with extrapulmonary manifestations including, among others, limb muscle dysfunction. Limb muscle dysfunction is a key systemic consequence of COPD that impacts patients' physical activity, exercise tolerance, quality of life and survival. Deconditioning is the main mechanism underlying the development of limb muscle dysfunction in COPD, which can be partially improved with exercise. However, some patients may not be able to tolerate exercise because of incapacitating breathlessness or unwillingness to undertake whole-body exercise. Alternative training modalities that do not give rise to dyspnoea, such as neuromuscular electrical stimulation (NMES), are urged. Over the past 20 years, NMES in COPD has presented conflicting conclusions in meta-analysis. In this review, we try to understand the reason for this result by analysing possible biases and factors that brought conflicting conclusions. We discuss the population (the intervention group, but also the control group), the outcome measures, the frequency of stimulation, the rehabilitation protocol (i.e. NMES alone versus standard care/rehabilitation or NMES plus conventional exercise training versus conventional exercise training alone or NMES versus sham treatment) and the trial design. The main reason for this discrepancy is the lack of dedicated guidelines for NMES. Further research is urged to determine the optimal parameters for an NMES programme. Despite this, NMES appears to be an effective means of enhancing quadriceps strength and exercise capacity in COPD with the potential to break the vicious circle induced by the disease and COPD patients' lifestyle.

Sarcopenia and Multisensory Integration Deficit in Post-COVID Syndrome Patients: The Clinical, Ultrasound and Robotic Evaluation Protocol in a Cross-sectional Study.

INTRODUCTION: Post-COVID syndrome affects relatively young outpatients with fatigue as the mostly reported symptom. We wondered whether sarcopenia could play a role. METHODS: Seventy-four outpatients (median age: 53.8 yrs, 45 females), reporting fatigue and persistent mild neurological/motor deficits, completed the Clinical, Ultrasound and Robotic Evaluation protocol 4.8 mos after the infection. RESULTS: The incidence of sarcopenia was 41%. Sarcopenic patients were older (62.7 vs. 46.4 yrs, P < 0.001), they experienced longer infection (33 vs. 24 days, P = 0.006) and higher incidence of hospitalization (86.6 vs. 29.5%, P < 0.001), they did not report more fatigue (44.5 vs. 48, P = 0.424), but they walked slower (1.27 vs. 1.5 m/sec, P = 0.027).After multivariable adjustment using multiple logistic regression, sarcopenia was dependent on age (odds ratio = 1.09) and on the duration of the disease (odds ratio = 1.04).When expressed as z score, in 79% of patients, the sway path during elastic balance shifted significantly toward negative values with closed eye, indicating multisensory integration deficit. CONCLUSIONS: Post-COVID syndrome in relatively young outpatients complaining mild motor deficit is associated with high incidence of sarcopenia. In addition, they have multisensory integration deficit that further contributes to symptoms. The Clinical, Ultrasound and Robotic Evaluation protocol is able to objectivize symptoms that common diagnostic tool cannot reveal. TO CLAIM CME CREDITS: Complete the self-assessment activity and evaluation online at http://www.physiatry.org/JournalCME. TO CLAIM CME CREDITS: Complete the self-assessment activity and evaluation online at http://www.physiatry.org/JournalCME. CME OBJECTIVES: Upon completion of this article, the reader should be able to: (1) Determine the best diagnostic algorithm for the diagnosis of sarcopenia; (2) Identify and treat two additional factors that help to explain and understand the symptoms reported by relatively young post-COVID syndrome patients; and (3) Extend their diagnostic capability through the use of technology. LEVEL: Advanced. ACCREDITATION: The Association of Academic Physiatrists is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.The Association of Academic Physiatrists designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s) ™. Physicians should only claim credit commensurate with the extent of their participation in the activity. LEVEL: Advanced. ACCREDITATION: The Association of Academic Physiatrists is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The Association of Academic Physiatrists designates this Journal-based CME activity for a maximum of 1.0 AMA PRA Category 1 Credit(s) ™. Physicians should only claim credit commensurate with the extent of their participation in the activity.

Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure.

INTRODUCTION: Pulmonary involvement in Osteogenesis Imperfecta (OI) can be severe but may be overlooked in milder cases. The Care4BrittleBones Foundation initiated this project to develop a set of global outcome measures focusing on respiratory-related issues in patients with OI. The objective was to reach an international consensus for a standardized set of outcomes and associated measuring instruments for the pulmonary care of individuals with OI. Based on the initial tests and questionnaires, we suggest parameters for when pulmonologists should seek guidance from the growing literature on OI pulmonary care and/or recognized experts in the field. STUDY DESIGN AND METHODS: The project team consisted of a multidisciplinary mix of 12 people from six countries, including an OI patient representative, and facilitated by the Care4BrittleBones Foundation director. The International Consortium for Health Outcomes Measurement (ICHOM) process was followed, which includes the Delphi method, used to collect the opinions of the expert team. Patient input was present in each meeting due to the inclusion of a patient representative. In addition, online focus groups were held. They consisted of adults with OI from different countries, and they determined which questions matter the most to the OI community worldwide. RESULTS: After three Delphi rounds, the expert team reached a consensus on the final set of measuring instruments, which included pulmonary function testing and patient self-reporting of symptoms related to breathing and sleep. Two questionnaires were decided upon: St. George's Respiratory Questionnaire (shortened version) and four questions regarding sleep. Patients should be screened for a history of pneumonia. Advanced testing for select patients by a pulmonologist would include further pulmonary function tests and a chest radiograph. CONCLUSIONS: A standardized set of outcome measures related to pulmonary care of individuals with OI was determined based on what is important to both experts and patients. This included patient-reported outcome measures and basic pulmonary function testing. Using these outcome measures, it can be determined which patients are at high risk for pulmonary complications.

Urologic latency time during uroflow stop test with electromyography: an incontinence detector in rehabilitation after robotic radical prostatectomy.

BACKGROUND: Stress urinary incontinence (UI) is the most common presentation following robot-assisted radical prostatectomy (RARP), but a postoperative non-invasive and objective test is still lacking. To assess pelvic floor integrity after RARP, we recently proposed Uroflow Stop Test (UST) with surface electromyography (EMG). AIM: Here we provide two new clinical parameters: the neurologic latency time (NLT) and the urologic latency time (ULT) derived from UST-EMG Test. Principal outcome was to evaluate their variation during one year follow-up and ULT ability to predict post-RARP UI. DESIGN: Observational and longitudinal study. SETTING: Interdivisional Urology Clinic (Perugia-Terni, Italy). POPULATION: Patients with prostate cancer treated with a full nerve-sparing RARP who underwent postoperative pelvic floor muscles training (PFMT): a diurnal functional home program and a weekly hospital program with the use of biofeedback, between 1 and 3 months postoperatively. METHODS: All patients consecutively performed a UST-EMG test at one, three, six, and twelve months after surgery. At each follow-up visit we collected NLT values, ULT values, 5-item 26-Expanded Prostate Cancer Index (EPIC), Incontinence Developed on Incontinence Questionnaire (ICIQ-UI) Short Form and International Prostate Symptom Score (IPSS). We analysed statistically significant differences in NLT and ULT between continent and incontinent patients and we evaluate the diagnostic ability of 1-month post-surgery ULT value to diagnose the presence of postoperative UI. RESULTS: Sixty patients were enrolled. The mean time to PFMT was 31.08 (range: 30-35) days. Overall IPSS, NLT and ULT had similar trends: progressive decrease until the six months after surgery (1-month vs. 3 months vs. 6 months, P<0.05) to plateau thereafter. When considering the two group of patients, IPSS and NLT were significantly higher in the incontinent group only one month after surgery, while ULT became similar between the two groups at 6 months after surgery. The best cut-off of 1-month ULT values that maximized the Youden function at 12-months resulted 3.13 second. CONCLUSIONS: NLT and ULT may respectively account for the nerve and the urethral closure system integrity post-RARP. In the first month after RARP, both NLT and ULT differs between incontinent vs. continent patients. NLT become similar between two group after one month, confirming the recovery from neuropraxia, but ULT remains statistically significant different until 3 months postoperatively. The value of 1-month ULT resulted a valid tool to predict incontinence status at 12 months. CLINICAL REHABILITATION IMPACT: ULT and NLT may be also useful tools to monitor the continence progressive recovery after RARP and they may help rehabilitation specialists to evaluate the ongoing results during postoperative follow-up.

Lung and chest wall volume during vital capacity manoeuvre in Osteogenesis Imperfecta.

BACKGROUND: Although Osteogenesis Imperfecta (OI) affects the connective tissue, pulmonary function might be compromised because of thoracic deformities. OI is known to be a restrictive lung disease, but spirometry provides global measurement without localizing the site of the restriction. Opto-electronic plethysmography (OEP), is a non-invasive method able to underline altered respiratory function as well as ventilatory thoraco-abdominal paradoxes during spontaneous breathing. We aimed to reconstruct the thoraco-abdominal surface, to perform local analyses of trunk motion and to make quantitative comparison of trunk shape and respiratory kinematics according to OI severity, particularly during maximal inspiratory and expiratory expansions. This is a cross-sectional study where we have studied the thoraco-abdominal compartmental analysis in 26 adult OI patients (14 Type III) at rest and during vital capacity manoeuvre using OEP. We have also applied a new method that created realistic and accurate 3D models to perform local analyses of trunk motion and to make quantitative comparison of trunk shape and respiratory kinematics. RESULTS: Type III patients were characterized by lower spirometric lung volume, by lower sleep quality, by a more compressed thoracic configuration aggravated by severe scoliosis, by reduced global expansion at rest and during maximal maneuvers because of the reduced expansion of the pulmonary ribcage at rest (12% vs. 65% in healthy subjects), during maximal inspiration (37% vs. 69%) and expiration (16% vs. 68%) with local paradoxical movement occurring on the side of the ribcage region. CONCLUSION: The kinematics of the trunk changed to compensate for the severe structural deformities by shifting the expansion in the abdomen both at rest and during maximal manoeuvre because of a restricted thorax. For the first time, we have quantified and localized the site of the restriction in OI patients in the lateral part of the thorax. The 3D analysis proposed seemed a promising graphical immediate new method for pathophysiology study of chest wall restriction.

Quantitative Analysis by 3D Graphics of Thoraco-Abdominal Surface Shape and Breathing Motion.

Chest wall motion can provide information on respiratory muscles' action and on critical vital signs, like respiration and cardiac activity. The chest wall is a structure with three compartments that are independent to each other and can move paradoxically according to the pathophysiology of the disease. Opto-electronic plethysmography (OEP) allows for non-invasively 3D tracking of body movements. We aimed to extend the characteristics of OEP analysis to local analyses of thoraco-abdominal surface geometry and kinematics during respiration. Starting from the OEP output file, the 3D markers' coordinates were combined with a triangulation matrix. A smoothing procedure (an automatic and iterative interpolation process to increase the number of vertices from 93 to 548) was applied to allow for precise local analysis of the thoraco-abdominal surface. A series of measurements can be performed to characterize the geometry of the trunk and its three compartments, in terms of volumes, height, diameters, perimeters, and area. Some shape factors, such as surface-to-volume ratio or height-to-perimeter ratio, can be also computed. It was also possible to build the vector field associated with the breathing motion of all the vertices, in terms of magnitude and motion direction. The vector field data were analyzed and displayed through two graphic tools: a 3D heatmap, in which the magnitude of motion was associated to different colors, and a 3D arrow plot, that allowed us to visualize both the magnitude and the direction of motion with color-coded arrows. The methods were applied to 10 healthy subjects (5 females) and also applied to two cases: a pregnant woman at each trimester of gestation and a patient before and after a demolition thoracic surgery. The results proved to be coherent with the physiology of healthy subjects and the physiopathology of the cases. We developed a new non-invasive method for respiratory analysis that allowed for the creation of realistic 3D models of the local and global trunk surface during respiration. The proposed representation constituted a very intuitive method to visualize and compare thoraco-abdominal surface movements within and between subjects, therefore enforcing the potential clinical translational value of the method.

EEG Evaluation of Stress Exposure on Healthcare Workers During COVID-19 Emergency: Not Just an Impression.

Psychological distress among healthcare professionals, although already a common condition, was exacerbated by the COVID-19 pandemic. This effect has been generally self-reported or assessed through questionnaires. We aimed to identify potential abnormalities in the electrical activity of the brain of healthcare workers, operating in different roles during the pandemic. Cortical activity, cognitive performances, sleep, and burnout were evaluated two times in 20 COVID-19 frontline operators (FLCO, median age 29.5 years) and 20 operators who worked in COVID-19-free units (CFO, median 32 years): immediately after the outbreak of the pandemic (first session) and almost 6 months later (second session). FLCO showed higher theta relative power over the entire scalp (FLCO = 19.4%; CFO = 13.9%; p = 0.04) and lower peak alpha frequency of electrodes F7 (FLCO = 10.4 Hz; CFO = 10.87 Hz; p = 0.017) and F8 (FLCO = 10.47 Hz; CFO = 10.87 Hz; p = 0.017) in the first session. FLCO parietal interhemispheric coherence of theta (FLCO I = 0.607; FLCO II = 0.478; p = 0.025) and alpha (FLCO I = 0.578; FLCO II = 0.478; p = 0.007) rhythms decreased over time. FLCO also showed lower scores in the global cognitive assessment test (FLCO = 22.72 points; CFO = 25.56; p = 0.006) during the first session. The quantitative evaluation of the cortical activity might therefore reveal early signs of changes secondary to stress exposure in healthcare professionals, suggesting the implementation of measures to prevent serious social and professional consequences.

Respiratory physiology in pregnancy and assessment of pulmonary function.

A progressive chest wall adaptation occurs during pregnancy driven by the hormones and the expanding uterus. The effect of the former is more prevalent in the first weeks of pregnancy, while the latter is more evident in the last trimester. The combination of the hormonal-induced joint loosening together with the progressively enlarging uterus produces changes in the whole chest wall geometry, with the thoracic alterations being the most fundamental. The ribcage changes in size, but not in volume, secondary to an upward bucket handle shift centred in the xiphoidal process so that the lung is not restricted. A virtuous cycle of stretching and muscle conditioning seems to be established between the enlarging uterus, the diaphragm, and the abdominal muscles to prepare these muscles for the expulsive phase. From the respiratory point of view, the supine position seems to hinder the action of the abdominal muscles during forced expiration at the end of pregnancy.

Design and custom fabrication of specialized orthoses for the upper-limb stabilization in childhood dyskinesia.

BACKGROUND: Childhood dyskinesia (CD) is a complex movement disorder with components of dystonic and hyperkinetic nature, characterized by involuntary, sometimes stereotypical postures and gestures that are often impossible to control and hinder the execution of willful motion. The standard orthoses for the treatment of neurological diseases, including CD, are generally poorly differentiated for functional characteristics. The application of similar devices for movement disorders is far less generalized because of the very different symptoms, including the incapacity to control rather than initiate movement. OBJECTIVES: This article aims to describe an innovative method to fabricate personalized orthoses for the elbow-wrist joints in CD, taking into account anatomical and functional diversities. It also proposes functional elements to implement the required dynamic postural control. METHODS: Wearable custom-made upper-limb orthoses have been fabricated and preliminarily tested on five patients with CD. Optoelectronic stereophotogrammetry was used as an innovative tool for all-in-one-frame acquisition of limb geometry. A new process for the functional personalization of the orthoses has been developed using shape memory alloys. CONCLUSIONS: The innovative method presented, encompassing data acquisition, virtual design, fabrication, and assembling, overcomes the problems due to the involuntary movements of the patients, which cannot be avoided during the fitting operations, providing comfortable and useful orthoses with minimal nuisance for the patients. Initial tests show that the orthoses were well tolerated by all the subjects; the promising comments of caregivers, together with improvements, were observed by the clinicians using specific clinical scales.

Functional analysis of the airways after pulmonary lobectomy through computational fluid dynamics.

Pulmonary lobectomy, which consists of the partial or complete resection of a lung lobe, is the gold standard intervention for lung cancer removal. The removal of functional tissue during the surgery and the re-adaptation of the remaining thoracic structures decrease the patient's post-operative pulmonary function. Residual functionality is evaluated through pulmonary function tests, which account for the number of resected segments without considering local structural alterations and provide an average at-the-mouth estimation. Computational Fluid Dynamics (CFD) has been demonstrated to provide patient-specific, quantitative, and local information about airways airflow dynamics. A CFD investigation was performed on image-based airway trees reconstructed before and after the surgery for twelve patients who underwent lobectomy at different lobes. The geometrical alterations and the variations in fluid dynamics parameters and in lobar ventilation between the pre and post-operative conditions were evaluated. The post-operative function was estimated and compared with current clinical algorithms and with actual clinical data. The post-operative configuration revealed a high intersubject variability: regardless of the lobectomy site, an increment of global velocity, wall pressure, and wall shear stress was observed. Local flow disturbances also emerged at, and downstream of, the resection site. The analysis of lobar ventilation showed severe variations in the volume flow rate distribution, highlighting the compensatory effects in the contralateral lung with an increment of inflow. The estimation of post-operative function through CFD was comparable with the current clinical algorithm and the actual spirometric measurements. The results confirmed that CFD could provide additional information to support the current clinical approaches both in the operability assessment and in the prescription of personalized respiratory rehabilitation.

The Performance of Upper Limb (PUL) module in limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is a genetic muscle disorder causing weakness and wasting of the proximal limb musculature. When ambulation is lost, the attention must be shifted to the upper limb muscles' function. We studied the upper limb muscle strength and the corresponding function in 15 LGMDR1/LGMD2A and 13 LGMDR2/LGMD2B, through the Performance of Upper Limb scale and the MRC score of upper limbs. The proximal item K and the distal items N and R were lower in LGMD2B/R2. The mean MRC score of all the muscles involved linearly correlated (r2 = 0.922) for item K in LGMD2B/R2. The functional worsening paralleled the muscles weakness in LGMD2B/R2. By contrast, at proximal level the function of LGMD2A/R1 was preserved despite muscle weakness was present, presumably due to compensatory strategies. Sometimes the combination of parameters might be more informative than considering them separately. PUL scale and MRC might be interesting outcome measures in non-ambulant patients.

Balance and visual reliance in post-COVID syndrome patients assessed with a robotic system: a multi-sensory integration deficit.

The symptoms of SARS-CoV-2 infection are not limited to the acute phase, with vertigo, peripheral neuropathies, headache, fatigue, memory loss, and depression being the most common post-acute clinical manifestations. Such post-COVID syndrome is a new clinically relevant challenge for diagnosis and therapy. Our goal was to quantify deficit in balance and proprioception related to post-COVID syndrome and, in this sense, we prospectively analyzed data of 66 post-COVID-19 outpatients (mean age 47.3 ± 11.1 years, 50 females, 25 hospitalized), evaluated using the robotic device hunova. The dynamic balance was assessed with open (OE) and closed eyes (CE) and three indexes, proportional to subject instability, were measured: the sway path and two oscillation ranges. Hospitalized group showed the worst performance with respect to non-hospitalized patients and normality range in both visual conditions for the sway path and the oscillation ranges, with the worst performance being with CE. When compared to normality ranges, post-COVID patients were significantly more distant from normality in the OE condition compared to the CE condition. These results suggest that independently from the severity of the disease experienced, post-COVID syndrome makes the elastic balance test performances more distant from the normality when the subject integrates vision, somatosensory information, and vestibular information. In the absence of visual feedback, patients seem to implement compensatory strategies, presumably seeking more significant feedback from the lower limbs, which improve their performance. These data suggest a new mechanism of the post-COVID syndrome that deserves further investigation for its potential impact on activities of daily living.

Sex and gender in respiratory physiology.

Sex is a biological concept determined at conception. Gender is a social concept. Medicine recognises sex as a biological variable and recommends including sex as a factor in clinical practice norms and as a topic of bench and clinical research. Sex plays a role in respiratory physiology according to two pathways: hormones and anatomy, with females characterised by smaller dimensions at every level of the respiratory system. Sex hormones also play specific roles in lung inflammatory processes, breathing control and in response to diseases. The literature is extremely controversial because many factors need to be considered to avoid erroneous comparisons. The main difficulty lies in creating homogeneous groups of subjects according to age, body weight, lung/airway size, fluctuations in circulating hormone levels, and exercise protocol. Because almost all of the knowledge available in physiology is based on research in males, medicine for women is therefore less evidence-based than that being applied to men. Finally, the number of transsexual people is increasing and they represent new challenges for clinicians, due to the anatomical and physiological changes that they undergo.

Eat, breathe, sleep with Osteogenesis Imperfecta.

BACKGROUND: Although Osteogenesis Imperfecta (OI) affects the connective tissue causing extremely brittle bones with consequent skeletal deformities, it is important to go beyond bones. Indeed, the quality of life in OI does not only depend on bones status, as OI might affect also other important functions. We have therefore implemented a multidisciplinary study to assess lung function, breathing pattern, sleep quality and nutritional status in 27 adult OI type III and IV patients (median age: 34.6 years; 19 women; 14 type III). RESULTS: According to nocturnal oxygen desaturation, two groups were identified: 13 patients with (OI_OSA, incidence: 48.2%) and 14 without (no_OSA) obstructive sleep apnea. The former was characterized by higher spinal and ribcage deformity, by more restrictive lung function, by paradoxical thoracic breathing in supine position, by rapid and shallow breathing, by higher body mass index, by longer neck and waist circumferences; by higher abdominal volume and by greater percentage of body fat mass, particularly localized in the trunk. The best predictor of OI_OSA was the negative value of the supine ribcage contribution to tidal volume, followed by the ratio between the neck and the waist circumferences with body height and the supine thoraco-abdominal volumes phase shift angle. CONCLUSIONS: The pathophysiology of OI ensued a dangerous vicious circle, in which breathing, sleep and nutritional status are tightly linked, and they might all end up in negatively affecting the quality of life. The vicious circle is fed by some intrinsic characteristics of the disease (thoracic, cranial and mandibular deformities) and some bad daily habits of the patients (i.e. physical inactivity and low dietary quality). The former impacts on restricting the respiratory function, the latter makes Olers more prone to experience overweight or obesity. The main consequence is a high incidence of obstructive sleep apnea, which remains an underdiagnosed disorder in individuals with severe OI who are obese, with a neck to height ratio over than 31.6%, and characterized by paradoxical breathing in supine position. A multidisciplinary approach, including evaluations of breathing, sleep and nutrition, is required to better manage the disease and fulfil the maximizing well-being of OI patients.

Non-Invasive Respiratory Assessment in Duchenne Muscular Dystrophy: From Clinical Research to Outcome Measures.

Ventilatory failure, due to the progressive wasting of respiratory muscles, is the main cause of death in patients with Duchenne muscular dystrophy (DMD). Reliable measures of lung function and respiratory muscle action are important to monitor disease progression, to identify early signs of ventilatory insufficiency and to plan individual respiratory management. Moreover, the current development of novel gene-modifying and pharmacological therapies highlighted the urgent need of respiratory outcomes to quantify the effects of these therapies. Pulmonary function tests represent the standard of care for lung function evaluation in DMD, but provide a global evaluation of respiratory involvement, which results from the interaction between different respiratory muscles. Currently, research studies have focused on finding novel outcome measures able to describe the behavior of individual respiratory muscles. This review overviews the measures currently identified in clinical research to follow the progressive respiratory decline in patients with DMD, from a global assessment to an individual structure-function muscle characterization. We aim to discuss their strengths and limitations, in relation to their current development and suitability as outcome measures for use in a clinical setting and as in upcoming drug trials in DMD.

Respiratory function assessment at the time of a new respiratory virus pandemic.

We must be aware that new respiratory virus pandemic can happen frequently. Standard lung function tests should keep their crucial role to assist the clinicians in the decision-making process, but they are at risk for the spread of infection because of the generated droplets. We used opto-electronic plethysmography to investigate the post-COVID-19 syndrome on 12 patients after ICU. We found normal ventilatory pattern at rest, a restrictive pattern located in the ribcage during vital capacity and surgical mask to significantly increase minute ventilation. The attention on unconventional respiratory function tests should be sponsored for the important information they can provide.

Over three decades of natural history of limb girdle muscular dystrophy type R1/2A and R2/2B: Mathematical modelling of a multifactorial study.

We aimed to describe the natural history of Limb Girdle Muscular Dystrophy type 2A and 2B over more than three decades by considering muscular strength, motor, cardiac and respiratory function. 428 visits of nineteen 2A and twenty 2B patients were retrospectively analysed through a regression model to create the curves of evolution with disease duration of muscle strength (through Medical Research Council grading), motor function measure scale (D1, D2 and D3 domains) and cardio-pulmonary function tests. Clinically relevant muscular and motor function alterations occurred after the first decade of disease, while mild respiratory function alterations started after the second, with preserved cardiac function. Although type 2A showed relatively stronger distal lower limb muscles, while type 2B started with relatively stronger upper limb muscles, the corresponding motor functions were similar, becoming severely compromised after 25 years of disease. This was the longest retrospective study in types 2A and 2B. It defined curves of disease evolution not only from a neuromuscular, but also from functional, cardiac, and respiratory points of view, to be used to evaluate how the natural progression is changed by therapies. Due to slow disease progression, it was not possible to identify time sensitive endpoints.