Duchenne muscular dystrophy (DMD) is a severe, progressive disease that aff ects 1 in 3600–6000 live male births. Although guidelines are available for various aspects of DMD, comprehensive clinical care recommendations do not exist. The US Centers for Disease Control and Prevention selected 84 clinicians to develop care recommendations using the RAND Corporation–University of California Los Angeles Appropriateness Method. The DMD Care Considerations Working Group evaluated assessments and interventions used in the management of diagnostics, gastroenterology and nutrition, rehabilitation, and neuromuscular, psychosocial, cardiovascular, respiratory, orthopaedic, and surgical aspects of DMD. These recommendations, presented in two parts, are intended for the wide range of practitioners who care for individuals with DMD. They provide a framework for recognising the multisystem primary manifestations and secondary complications of DMD and for providing coordinated multidisciplinary care. In part 1 of this Review, we describe the methods used to generate the recommendations, and the overall perspective on care, pharmacological treatment, and psychosocial management.

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Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

International study of the prevalence and outcomes of infection in intensive care units

Optimum management of Duchenne muscular dystrophy (DMD) requires a multidisciplinary approach that focuses on anticipatory and preventive measures as well as active interventions to address the primary and secondary aspects of the disorder. Implementing comprehensive management strategies can favourably alter the natural history of the disease and improve function, quality of life, and longevity. Standardised care can also facilitate planning for multicentre trials and help with the identification of areas in which care can be improved. Here, we present a comprehensive set of DMD care recommendations for management of rehabilitation, orthopaedic, respiratory, cardiovascular, gastroenterology/nutrition, and pain issues, as well as general surgical and emergency-room precautions. Together with part 1 of this Review, which focuses on diagnosis, pharmacological treatment, and psychosocial care, these recommendations allow diagnosis and management to occur in a coordinated multidisciplinary fashion.

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Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

A practical guide to diagnostic transcranial magnetic stimulation: Report of an IFCN committee

Wearable Health Devices (WHDs) are increasingly helping people to better monitor their health status both at an activity/fitness level for self-health tracking and at a medical level providing more data to clinicians with a potential for earlier diagnostic and guidance of treatment. The technology revolution in the miniaturization of electronic devices is enabling to design more reliable and adaptable wearables, contributing for a world-wide change in the health monitoring approach. In this paper we review important aspects in the WHDs area, listing the state-of-the-art of wearable vital signs sensing technologies plus their system architectures and specifications. A focus on vital signs acquired by WHDs is made: first a discussion about the most important vital signs for health assessment using WHDs is presented and then for each vital sign a description is made concerning its origin and effect on heath, monitoring needs, acquisition methods and WHDs and recent scientific developments on the area (electrocardiogram, heart rate, blood pressure, respiration rate, blood oxygen saturation, blood glucose, skin perspiration, capnography, body temperature, motion evaluation, cardiac implantable devices and ambient parameters). A general WHDs system architecture is presented based on the state-of-the-art. After a global review of WHDs, we zoom in into cardiovascular WHDs, analysing commercial devices and their applicability versus quality, extending this subject to smart t-shirts for medical purposes. Furthermore we present a resumed evolution of these devices based on the prototypes developed along the years. Finally we discuss likely market trends and future challenges for the emerging WHDs area.

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Wearable Health Devices-Vital Sign Monitoring, Systems and Technologies.

This review describes current knowledge on the mechanisms that underlie glucocorticoid insufficiency in sepsis and the molecular action of glucocorticoids In patients with severe sepsis, numerous factors predispose to glucocorticoid insufficiency, including drugs, coagulation disorders and inflammatory mediators These factors may compromise the hypothalamic–pituitary axis (ie secondary adrenal insufficiency) or the adrenal glands (ie primary adrenal failure), or may impair glucocorticoid access to target cells (ie peripheral tissue resistance) Irreversible anatomical damages to the hypothalamus, pituitary, or adrenal glands rarely occur Conversely, transient functional impairment in hormone synthesis may be a common complication of severe sepsis Glucocorticoids interact with a specific cytosolic glucocorticoid receptor, which undergoes conformational changes, sheds heat shock proteins and translocates to the nucleus Glucocorticoids may also interact with membrane binding sites at the surface of the cells The molecular action of glucocorticoids results in genomic and nongenomic effects Direct and indirect transcriptional and post-transcriptional effects related to the cytosolic glucocorticoid receptor account for the genomic effects Nongenomic effects are probably subsequent to cytosolic interaction between the glucocorticoid receptor and proteins, or to interaction between glucocorticoids and specific membrane binding sites

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Science review: mechanisms of impaired adrenal function in sepsis and molecular actions of glucocorticoids.

The use of glucocorticoids (corticotherapy) in severe sepsis is one of the main controversial issues in critical care medicine. These agents were commonly used to treat sepsis until the end of the 1980s, when several randomized trials casted serious doubt on any benefit from high-dose glucocorticoids. Later, important progress in our understanding of the role played by the hypothalamic–pituitary–adrenal axis in the response to sepsis, and of the mechanisms of action of glucocorticoids led us to reconsider their use in septic shock. The present review summarizes the basics of the physiological response of the hypothalamic–pituitary–adrenal axis to stress, including regulation of glucocorticoid synthesis, the cellular mechanisms of action of glucocorticoids, and how they influence metabolism, cardiovascular homeostasis and the immune system. The concepts of adrenal insufficiency and peripheral glucocorticoid resistance are developed, and the main experimental and clinical data that support the use of low-dose glucocorticoids in septic shock are discussed. Finally, we propose a decision tree for diagnosis of adrenal insufficiency and institution of cortisol replacement therapy.

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Clinical review: Corticotherapy in sepsis

Many patients with respiratory failure related to neuromuscular disease receive chronic invasive ventilation through a tracheostomy. Improving quality of life, of which speech is an important component, is a major goal in these patients. We compared the effects on breathing and speech production of assist-control ventilation (ACV) and bilevel positive-pressure ventilation (BPPV) in nine patients with neuromuscular disease. Ventilator-delivered flow was measured using a pneumotachograph, and respiratory rate, inspiratory time, and ventilator-delivered volume were measured on this flow signal. Gas exchange was assessed using oxygen saturation and end-tidal carbon dioxide measurement. Microphone speech recordings were subjected to quantitative analysis. At rest, ventilatory parameters were similar with both modes. Speech induced an increase in inspiratory time during BPPV, with a greater increase in the volume released by the ventilator during speech as compared with ACV (172 +/- 194 versus 26 +/- 31 ml). Consequently, speech duration was longer during inspiration with BPPV. Moreover, BPPV allowed speech production to extend into expiration, and three patients could speak continuously during several respiratory cycles while receiving BPPV. Blood gas exchange was not modified by speech with BPPV or ACV. This study shows that BPPV provides better speech duration than ACV with no detectable short-term deleterious effects.

https://www.atsjournals.org/doi/pdf/10.1164/rccm.200201-026OC

Comparative effects of two ventilatory modes on speech in tracheostomized patients with neuromuscular disease.

Guillain-Barre Syndrome is the leading cause of nontraumatic acute paralysis in industrialized countries. About 30% of patients have respiratory failure requiring intensive care unit (ICU) admission and invasive mechanical ventilation. Progressive weakness of both the inspiratory and the expiratory muscles is the mechanism leading to respiratory failure. Aspiration pneumonia and atelectasis are common consequences of the bulbar muscle weakness and ineffective cough. The classical signs of respiratory distress occur too late to serve as guidelines for management, and measurements of vital capacity and static respiratory pressures are useful to determine the best times for starting and stopping mechanical ventilation. Several factors present at admission and during the ICU stay are known to predict a need for invasive mechanical ventilation. They include rapidly progressive motor weakness, involvement of both the peripheral limb and the axial muscles, ineffective cough, bulbar muscle weakness, and a rapid decrease in vital capacity. Specific treatments (plasma exchange and intravenous immunoglobulins) have decreased both the number of patients requiring ventilation and the duration of ventilation. The need for mechanical ventilation is associated with residual functional impairments, although all patients eventually recover normal respiratory muscle function.

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Respiratory dysfunction in Guillain-Barré Syndrome.

Restrictive respiratory failure is a major cause of morbidity and mortality in neuromuscular diseases (NMD) Home mechanical ventilation (HMV) is used to treat hypoventilation, identified by daytime hypercapnia or nocturnal desaturation Recently, transcutaneous measure of CO2 (TcCO2) has been increasingly used to detect hypoventilation, using different cut-offs We aimed to compare the prevalence of hypoventilation in an unselected adult NMD population according to different definitions issued from the literature All consecutive nocturnal capno-oximetries performed between 2010 and 2014 in unventilated adult NMD patients were analysed retrospectively Concomitant blood gas analysis and lung function data were collected Patients on oxygen therapy were excluded Hypoventilation was defined according to eight criteria, based on daytime PaCO2, daytime base excess, nocturnal SpO2 or TcCO2 Data from 232 patients were analysed (mean age 431 ± 154 years; 500 % women; vital capacity 592 ± 242 % of predicted) The hypoventilation prevalence was 103 to 612 %, depending on the used definition The different definitions showed 491 to 948 % concordance (Cohen’s kappa for agreement 0115 to 0763) Overall agreement between the eight definitions was poor (Light’s kappa 0267), and agreement between definitions based on nocturnal SpO2 and those based on TcCO2 was even lower (Light’s kappa 0204) We found large differences in hypoventilation prevalence according to the used definition This has practical consequences, as HMV indication relies upon hypoventilation detection We believe that capno-oximetry should be included in the diagnostic tools used to detect hypoventilation but this requires an update of consensus guidelines to agree upon the best definition

Hélène Prigent

Papers

Science review: mechanisms of impaired adrenal function in sepsis and molecular actions of glucocorticoids.

Clinical review: Corticotherapy in sepsis

Comparative effects of two ventilatory modes on speech in tracheostomized patients with neuromuscular disease.

Respiratory dysfunction in Guillain-Barré Syndrome.

Nocturnal hypoventilation in neuromuscular disease: prevalence according to different definitions issued from the literature