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Positive end-expiratory pressure (PEEP) consists of the delivery of a constant positive pressure in the airways by means of a noninvasive interface aiming to maintain airway patency throughout the entire respiratory cycle. PEEP is increasingly used in the chronic care of children with anatomical or functional abnormalities of the upper airways to correct severe persistent obstructive sleep apnea despite optimal management which commonly includes adenotonsillectomy in young children. PEEP may be used at any age, due to improvements in equipment and interfaces. Criteria for CPAP/NIV initiation, optimal setting, follow-up and monitoring, as well as weaning criteria have been established by international experts, but validated criteria are lacking. As chronic PEEP is a highly specialised treatment, patients should be managed by an expert pediatric multidisciplinary team. [ABSTRACT FROM AUTHOR]

• Summarize potential benefits, risks, and outcomes for LT-NIV use for children following acute or crucial illness. • Understand the process of LT-NIV initiation in your centre. • Identify key steps for transition planning for LT-NIV in your centre. • Evaluate a transition plan for LT-NIV hospital to home in your centre. Long-term non-invasive ventilation (NIV) is an accepted therapy for sleep-related respiratory disorders and respiratory insufficiency or failure. Increase in the use of long-term NIV may, in part, be driven by an increase in the number of children surviving critical illness with comorbidities. As a result, some children start on long-term NIV as part of transitioning from hospital to home. NIV may be used in acute illness to avoid intubation, facilitate extubation or support tracheostomy decannulation, and to avoid the need for a tracheostomy for long-term invasive ventilation. The decision about whether long-term NIV is appropriate for an individual child and their family needs to be made with care. Preparing for transition from the hospital to home involves understanding how NIV equipment is obtained and set-up, education and training for parents/caregivers, and arranging a plan for clinical follow-up. While planning for these transitions is challenging, the goals of a shorter time in hospital and a child living well at home with their family are important. [ABSTRACT FROM AUTHOR]

Large gains have been made in the management of respiratory diseases associated with cystic fibrosis (CF). Initial studies evaluating sleep issues in CF focused on respiratory problems of nocturnal hypoxia, alveolar hypoventilation and risk of airway obstruction from nasal polyps with treatment evaluations including long term oxygen therapy or noninvasive ventilation in case of nocturnal hypercapnia. More recent studies include patients whose lung function is better preserved, and have permitted more focus on sleep patterns and sleep quality. This literature identified that reduced sleep duration and poor sleep quality are common and may be explained by chronic pain and cough, frequent stools, gastro-oesophageal reflux, nasal obstruction or sinusitis, and drugs such as corticosteroids or beta-agonists. In the teenage years, poor sleep hygiene, sleep debt and poor sleep quality are associated with depression, poor academic performance, less physical activity, and a decrease in quality of life. Restless leg syndrome also seems to be common in adult patients with CF. These sleep problems seem more important in patients with a low lung function but may also be observed in patients with preserved lung function. The consequences of poor sleep may potentially exaggerate the multi-organ morbidity of CF, such as pain, inflammation, susceptibility to infection, and glucose intolerance, but these aspects are largely under-evaluated. Sleep should be evaluated on a routine basis in CF and prospective studies assessing the benefits of interventions aiming at improving sleep duration and sleep quality urgently needed. [ABSTRACT FROM AUTHOR]

This study aims to assess the improvement of sleep apnea after secondary Le Fort III facial advancement with distraction (LF3) in faciocraniosynostosis (FCS) patients with sleep apnea who have previously undergone fronto-facial monobloc advancement (FFMBA) with distraction. Patients having undergone secondary LF3 were selected from a cohort of FCS patients with documented sleep apnea who had previously undergone fronto-facial monobloc advancement. Patient charts and polysomnographic records were reviewed. Apnea-hypopnea index (AHI) was recorded before and at least 6 months after secondary LF3. The primary outcome was normalization of AHI (less than 5/h was considered normal). Hierarchical multilevel analysis was performed to predict postoperative AHI evolution. Seventeen patients underwent a secondary LF3, 7.0 ± 3.9 years after the primary FFMBA. The mean age was 9.6 ± 3.9 years. A total of 15 patients (88%) normalized their AHI. Two of four patients were decannulated (50%). There was a statistically significant decrease in AHI (preoperative AHI 21.5/h vs. 3.9/h postoperatively, p=0.003). Hierarchic multilevel modeling showed progressive AHI decrease postoperatively. Secondary LF3 improves residual or relapsing sleep apnea in FCS patients who have previously had FFMBA. [ABSTRACT FROM AUTHOR]

Obstructive sleep apnea syndrome is prevalent in children with syndromic craniosynostoses. Here we assessed the effects of fronto-facial monobloc advancement with internal distraction on obstructive sleep apnea in syndromic craniosynostoses. All patients managed for syndromic craniosynostosis over a period of 14 years were assessed based on apnea-hyponea index (AHI) before and after fronto-facial surgery. AHI values were analyzed using multivariate models with focuses on (1) absolute decrease in AHI values after fronto-facial surgery and (2) AHI normalization (AHI < 5) after fronto-facial surgery. One hundred and nine patients were included with 407 polysomnographic studies. Higher pre-operative AHI (p < 0.001) and pre-operative vault expansion (p = 0.008) were associated with more AHI decrease. Early airways surgery (p = 0.002) and fronto-facial surgery at older ages (p < 0.001) were associated with more AHI normalization. Our results indicate that fronto-facial surgery is specifically efficient in reducing severe (AHI > 20) obstructive sleep apnea in syndromic craniosynostoses. Early airways surgery, early vault expansion and fronto-facial surgery at older ages are recommended for better respiratory results. We provide support for a protocol involving (1) early posterior vault expansion and airways surgery and (2) fronto-facial advancement performed as late as possible (>2.5 years). [ABSTRACT FROM AUTHOR]

Sleep-disordered breathing (SDB) is associated with neurocognitive and behavioral dysfunction, and structural brain abnormalities. Near infrared spectroscopy allows a continuous and non-invasive monitoring of brain tissue oxygenation, giving insight in some pathophysiological mechanisms potentially associated with SDB-related neurocognitive dysfunction. The present review summarizes the finding of studies describing brain tissue oxygenation in adults and children with SDB. Contrary to adults, mean nocturnal tissue oxygenation index (TOI) during sleep does not seem to be different in children with SDB as compared to healthy controls. During respiratory events such as apnoeas and hypopnoeas, the decrease in TOI precedes the peripheral, systemic desaturation. The decrease in TOI has been shown to be greater during apnoeas as compared to hypopnoeas, during rapid-eye movement sleep as compared to other sleep stages, in younger children as compared to their older counterparts, and in those with a high apnoea-hypopnoea index as compared with a low apnoea-hypopnoea index. Studies analyzing the association between repetitive changes in TOI and neurocognitive and behavioral dysfunction may help to decipher the pathophysiology of neurocognitive dysfunction associated with SDB in children. [ABSTRACT FROM AUTHOR]

Abstract Introduction Rett syndrome (RS) is a severe neurodevelopment disorder associated with abnormal breathing during wakefulness and disturbed nocturnal behaviour. Breathing abnormalities during daytime have been extensively reported but polysomnographic (PSG) findings have been poorly studied. Materials and methods Consecutive patients with RS carrying distinct mutations in MECP2 gene, who underwent a PSG between October 2014 and January 2018, were included in the study. Clinical and PSG data were collected. Results Seventeen RS girls, mean age 9.5 ± 2.8 years, were included in the study. Mean total sleep time was 366 ± 102 min. Mean sleep efficiency was reduced (66 ± 19%) with only 3 girls presenting a sleep efficiency above 80%. Wake after sleep onset was increased (33 ± 20%) with an arousal index of 7 ± 6 events/hour. Sleep stages were altered with a normal N1 (2 ± 3%), a decreased N2 (34 ± 20%), an increase of N3 (51 ± 23%) and a decrease of REM sleep (12 ± 9%). Mean apnea hypopnea index (AHI) was increased at 19 ± 37 events/hour, with a predominance of obstructive events. Thirteen patients had an AHI > 1.5 event/hour. Four patients had an obstructive AHI >10 events/hour with one patient having associated tonsillar hypertrophy. Two patients had predominant severe central apneas (central AHI 53 and 132 events/hour) which resolved with noninvasive ventilation and nocturnal oxygen therapy respectively. Conclusion Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. Central respiratory events are rare. Longitudinal studies should help understanding the natural history of sleep disturbances in RS and their relationship with the neurocognitive decline. Highlights • Poor sleep is a characteristic feature of Rett syndrome. • Sleep has been poorly studied in patients with Rett syndrome. • Girls with RS have poor sleep quality with alterations in slow wave and REM sleep stages. • Obstructive respiratory events are uncommon in patients without adenotonsillar hypertrophy. • Central respiratory events are rare during sleep. [ABSTRACT FROM AUTHOR]

Highlights • All children with congenital myopathies should have regular respiratory muscle tests. • Respiratory muscle tests should privilege natural maneuvers such as sniff and cough. • Respiratory muscle tests should be adapted to the “respiratory muscle phenotype”. • Respiratory muscle function should be assessed on a combination of complementary tests. Abstract Congenital muscular dystrophies and congenital myopathies represent a heterogeneous group of disorders of the muscle characterized by an early onset of hypotonia and muscle weakness and consequently, a high respiratory morbidity and mortality. The diagnosis and characterization of the weakness of the respiratory muscles is crucial for clinical management of patients and the evaluation of innovative therapies. Routine respiratory evaluation is based on noninvasive volitional tests, such as the measurement of lung volumes, spirometry, and maximal static pressures, which may be difficult or impossible to obtain in young children. Tests using natural maneuvers such as a sniff, a cough or a whistle, are easier to perform and may be more informative in young children. The combination of multiple tests of respiratory muscle function is essential and both increases diagnosis accuracy and the strength of the data in case of clinical trials assessing new therapies for these diseases. [ABSTRACT FROM AUTHOR]

Background and objectives Infants with congenital myasthenic syndrome (CMS) are at risk of brief resolved unexplained event (BRUE) and sleep-disordered breathing. The aim of the study was to explore sleep in infants with CMS with a particular focus on heart rate (HR) variability. Methods Overnight polygraphy was performed and HR variations associated with respiratory events were analysed. Bradycardia and tachycardia were defined as a variation of HR of ±10 bpm from baseline and analysed as events/hour. Results The data of 5 infants with CMS were analysed. Two patients had known mutations (COLQ and RAPSN). One patient had a tracheostomy. The apnoea-hypopnoea index (AHI) was abnormal in all the patients (range 2.8–47.7 events/h), with the highest AHI being observed in the 3 youngest infants. Nocturnal transcutaneous gas exchange was normal in all patients except the tracheostomised patient. Mean HR was 114 ± 23 bpm with a mean HR index of 4.5 ± 4.3 events/h. The amplitudes of HR variations (bradycardia or tachycardia) were around 15–20 bpm, regardless of the type of respiratory event, and comparable between patients. No correlations were found between HR indexes or variations and the type and mean duration of respiratory events. Ventilatory support was initiated in 3 infants immediately after the sleep study because of a high AHI and/or nocturnal hypoventilation. Conclusions All 5 infants had an abnormal AHI with younger infants having the highest AHI. Three infants required ventilatory support after the polygraphy, underlining its clinical usefulness. No significant abnormalities of HR were observed during the sleep studies. [ABSTRACT FROM AUTHOR]

The use of noninvasive ventilation (NIV) is very specific in the acute setting as compared to its use in a chronic setting. In the Pediatric Intensive care Unit (PICU), NIV may be required around the clock and initiation has to be fast and easy. Despite the increasing use of non-invasive ventilation (NIV) and the larger choice of interfaces, data comparing the use of different interfaces for pediatric patients are scarce and recommendations for the most appropriate choice of interface are lacking. However, this choice in acute settings is crucial and a major contributor of the success of NIV. The aim of the present review was to describe the different types of interfaces available for children in the acute setting, their advantages and limitations, to highlight how to choose the optimal interface, and how to monitor the tolerance of the interface. [ABSTRACT FROM AUTHOR]

Non-invasive ventilation is useful to treat some forms of respiratory failure. Hence, the number of patients receiving this treatment is steadily increasing. Considerable conceptual and technical progress has been made in the last years by manufacturers concerning this technique. This includes new features committed to improve its effectiveness as well as patient-ventilator interactions. The goal of this review is to deal with latest advances in ventilatory modes and features available for non-invasive ventilation. We present a comprehensive analysis of new modes of ventilator assistance committed to treat respiratory failure (hybrid modes) and central and complex sleep apnea (adaptive servo ventilation), and of new modes of triggering and cycling (neurally adjusted ventilatory assist). Technical aspects, modes of operation and settings of these new features as well as an exhaustive review of published data, their benefits and limits, and the potential place of these devices in clinical practice, are discussed. [ABSTRACT FROM AUTHOR]

Summary: The acoustic reflection method (ARM) is based on the analysis of the reflection of an acoustic wave in the airway, allowing the calculation of its longitudinal cross-sectional area profile and airway resistance. The ARM represents a simple, quick and totally non invasive tool for the investigation of the upper airways, requiring minimal cooperation, which makes this technique particularly suitable for children. Normal values of the minimal cross sectional area of the upper airways in children have been recently published. The ARM has shown its utility in the investigation of the nasal cavity in healthy and diseased children and of the upper airways in children with various diseases such as mucopolysaccharidosis and cystic fibrosis. This simple, rapid, and inexpensive technique seems promising for the non-invasive investigation of the whole upper airway during wakefulness in children, both in health and disease, and may constitute a complementary or alternative method to explore and follow children with anomalies of the upper airways. [Copyright &y& Elsevier]

Abstract: Background: Spinal muscular atrophy (SMA) is a common genetic disorder that causes severe hypotonia and weakness, and often fatal restrictive lung disease. The aim of the study was to describe the natural history of the respiratory involvement in patients with SMA type 2 and 3 in order to assess the relevance of the clinical classification and identify the parameters associated with the earliest and most rapid decline over time. Methods: Thirty-one patients aged 3–21 years were followed over a 10-year period. Lung function, blood gases, respiratory mechanics and muscle strength with recording of oesogastric pressures were measured during routine follow-up. Results: At least two measurements were available in 16 patients (seven type 2 and nine type 3). Among all the volitional and non-volitional, invasive and non-invasive tests, forced vital capacity (FVC) and sniff nasal inspiratory pressure (SNIP) were shown to be the most informative parameters, showing lower values in SMA type 2, with however a similar rate of decline in patients with SMA type 2 and 3. Conclusion: Our results confirm an earlier decline in lung and respiratory muscle function in patients classified as SMA type 2 as compared with patients classified as type 3. This decline can be assessed by two simple non-invasive tests, FVC and SNIP, with the last maneuver being feasible and reliable in the youngest children, underlying its interest for the monitoring of children with SMA. [Copyright &y& Elsevier]

Summary: Interstitial lung diseases (ILDs) in children represent a heterogeneous group of respiratory disorders characterized by derangements of the alveolar walls. The key pathologic feature of ILDs is the altered repair of the alveolar surface after injury with a marked disruption in the integrity of the epithelium and, consequently, a dysregulated communication between epithelial and mesenchymal pulmonary components. Concomitant to the loss of cell-cell contact, epithelial cells undergo a process called epithelial to mesenchymal transition and acquire a mesenchymal identity. Among the factors involved in disease progression, transforming growth factor-β has been identified as a master switch in the induction of fibrosis. This article reviews recent advances in the understanding of the mechanisms involved in the pathogenesis of ILDs, and provides information on their adaptation in the context of lung growth. [Copyright &y& Elsevier]

Monitoring of oxygen and carbon dioxide (CO2) is of crucial importance during sleep-disordered breathing in order to assess the consequences of respiratory events on gas exchange. Pulse oximetry (SpO2) is a simple and cheap method that is used routinely for the recording of oxygen levels and the diagnosis of hypoxemia. CO2 recording is necessary for the diagnosis of alveolar hypoventilation and can be performed by means of the end-tidal (PetCO2) or transcutaneous CO2 (PtcCO2). However, the monitoring of CO2 is not performed on a routine basis due to the lack of simple, cheap and reliable CO2 monitors. This short review summarizes some technical aspects of gas exchange recording during sleep in children before discussing the different definitions of alveolar hypoventilation and the importance of CO2 recording. [ABSTRACT FROM AUTHOR]

Summary: Background: Forced vital capacity (FVC) and maximal inspiratory pressure correlate with nocturnal hypoventilation in adults with neuromuscular disease, but children may not be able to perform these volitional tests. Objective: To identify volitional and non-volitional parameters reflecting lung and respiratory muscle function which differ in children treated or not with nocturnal noninvasive positive pressure ventilation (NPPV). Methods: Parameters reflecting lung function and respiratory muscle performance were measured in 27 children not treated with NPPV (Unventilated group) and 8 children treated with NPPV (Ventilated group). Results: Concerning noninvasive tests, the Ventilated group had a rapid shallow breathing and a lower ventilatory response to carbon dioxide compared to the Unventilated group. FVC (performed by 69% of the patients) and sniff nasal inspiratory pressure were lower in the Ventilated group. Concerning invasive tests, the non-volitional measurement of diaphragmatic strength by magnetic stimulation of the phrenic nerves showed lower results in the Ventilated group as compared to the Unventilated group. Volitional tests evaluating inspiratory and expiratory muscle strength and endurance by means of the sniff and cough manoeuvres and the tension time indexes, revealed lower values in the Ventilated group as compared to the Unventilated group. Conclusions: Several lung function and respiratory muscle function tests are lower in children treated with NPPV as compared to children not treated with NPPV. A prospective hierarchical evaluation of these tests, according to their feasibility and invasiveness, may be helpful to identify children with neuromuscular disease at risk for nocturnal hypoventilation. [Copyright &y& Elsevier]

Obstructive sleep apnea (OSA) is common in infants and children with craniofacial malformations. Continuous positive airway pressure (CPAP) represents an effective noninvasive treatment for severe upper airway obstruction in these children, reducing the need of surgery or a tracheostomy. The decision to start CPAP should be discussed by a multidisciplinary team in order to decide the optimal individualized treatment strategy. CPAP initiation depends on patients' clinical characteristics and local practices, with an increase tendency towards an outpatient program. Follow-up and monitoring strategy varies among centers but benefits from the analysis of built-in software data in order to assess objective adherence and breathing parameters, reducing the need of in-hospital sleep studies. The possibility to wean CPAP should be periodically checked after surgical treatment or when spontaneous resolution is suspected. Finally, these infants with craniofacial malformations should have a long term follow up because of the risk of OSA recurrence over time. [ABSTRACT FROM AUTHOR]

Summary: We hypothesized that peak values of oesophageal (Poes) and transdiaphragmatic pressure (Pdi) swings during a maximal sniff manoeuvre and a maximal static inspiratory manoeuvre (Muller manoeuvre) are comparable or give complementary information for assessing diaphragmatic and global inspiratory muscle strength. We studied 98 patients with suspected diaphragmatic dysfunction. Poes and Pdi swings were measured during maximal sniff manoeuvres (sniff), maximal Muller manoeuvres (max), and cervical magnetic phrenic nerve stimulation (cervical Tw). Eighty eight patients were able to perform both volitional manoeuvres. Among them, mean Poes sniff was significantly higher than mean Poes max (48.7±28.7cm H2O vs. 42.9±27.4cm H2O, p <0.05) and mean Pdi sniff was higher than mean Pdi max (49.2±35.1cm H2O vs. 42.9±33.3cm H2O, respectively, p =0.05). Cervical Pdi Tw correlated better with Pdi sniff (p <0.0001, r =0.62) than with Pdi max (p <0.0001, r =0.44). Poes and Pdi swings were greatest during the sniff manoeuvre in 42 patients (48%) and during the Muller manoeuvre in 29 patients (33%). Among the 17 remaining patients, nine had the greatest Poes swing during a maximal sniff manoeuvre and the greatest Pdi swing during a maximal static inspiratory manoeuvre; the opposite occurred in the other eight patients. The combination of Muller manoeuvre and sniff manoeuvre increased the diagnosis of normal diaphragmatic strength from 18 patients (20%) to 21 patients (24%), and the additional analysis of cervical Pdi Tw further increased the diagnosis of normal diaphragmatic strength to 27 patients (31%). In conclusion, though sniff manoeuvre gave significantly higher values than Muller manoeuvre, both volitional manoeuvres and cervical Pdi Tw are complementary and should be used in combination to evaluate diaphragmatic muscle strength. [Copyright &y& Elsevier]

Summary: In young children, sleep problems are associated with poorer mental and psychological health in their parents, although no clear causal relationship has been established to date. The increase in the number of children presenting with sleep problems puts increasing demand on polysomnography (PSG), which represents the gold standard for the diagnosis of sleep-disordered breathing (SDB). However, PSG is expensive and very time and labour intensive. Screening tools have therefore been developed to identify children at risk for SDB and obstructive sleep apnoea (OSA). Most interestingly, position during sleep influences motor development in infants, with the supine position being associated with significant delays in motor development and the acquisition of motor milestones. The majority of publications have dealt with the neurocognitive consequences of SDB and OSA, and more precisely, individual susceptibility for these adverse effects, involving the level of systemic inflammation as well as the polymorphisms of some genes with a neuroprotective role. [Copyright &y& Elsevier]

Abstract: Study Objectives: The objectives of the study were to present our institutional experience of idiopathic chylothorax in children and to propose therapeutic strategies. Design: This was a retrospective, single-center study. Patients: Patients were 6 children (4 boys, 2 girls) presenting with an idiopathic chylothorax diagnosed from the presence of a chylous pleural effusion with triglycerides greater than 1.2 mmol/L and a cellularity greater than 1000 cells/mL with a predominance of lymphocytes. Results: Median age of onset was 7 years (range, 2-14 years). Initial symptoms included cough (n = 4), tachypnea (n = 4), asthenia (n = 5), abdominal pain (n = 2), and bronchitis (n = 1). Chest radiography showed 2 left, 2 right, and 2 bilateral pleural effusions. Serum biology assessment was normal in all children. Respiratory function assessment at diagnosis revealed a decrease in functional residual capacity in 3 children and a decrease in lung diffusing capacity in 2 children. Initially, all patients received a medium-chain triglyceride diet for 29 months (range, 10-50 months). Total parenteral nutrition was required for 4 patients (for 1-4 months), and somatostatin was tried in one child. Two children required pleuroperitoneal shunting, bilateral in one case. During the follow-up (median duration, 6 years; range, 2-16 years), chylothorax stabilized in all patients and 5 patients were able to return to a normal diet. Conclusion: A medium-chain triglyceride diet associated in some cases with total parenteral nutrition may stabilize idiopathic chylothorax in children. In cases where conservative treatment has failed, pleuroperitoneal shunting may be useful. [Copyright &y& Elsevier]

Summary: Maximal static inspiratory and expiratory pressures are simple, noninvasive tests that evaluate global inspiratory and expiratory muscle strength. But these tests may be difficult or impossible to perform in young children. The sniff is a natural maneuver which many children find easier to perform than maximal pressures. The measurement of the nasal inspiratory pressure represents a valuable inspiratory muscle test which allows the extension of inspiratory muscle testing to a younger and larger paediatric population. [Copyright &y& Elsevier]

Summary: The major recent advance in our understanding of paediatric sleep is the publication of reference values for sleep in children aged 3.2–8.6 years. These data show developmental changes reflecting a subtle process of the maturation of the central nervous system with regard to sleep in childhood. In infants, a significant negative correlation has been observed between a snore-associated arousal index and an infant development scale, underlining that snoring is less innocent than has been suggested. A link between obstructive sleep apnoea (OSA) and airway inflammation has been demonstrated, with children with OSA having significantly higher expression of the leukotriene (LT) 1 and 2 receptors and higher concentrations of LT C4/D4/E4 and LT B4 in adenotonsillar tissues than children with recurrent rhinitis who have no OSA. This explains the efficacy of treatment for OSA with montelukast, a LT receptor antagonist, alone or in combination with corticosteroids. By using peripheral arterial tonometry, a noninvasive technique that allows the moment-to-moment measurement of sympathetic tone, persistent waking-associated autonomic nervous system dysfunction has been demonstrated in young children with sleep-disordered breathing (SDB). As such, SDB in childhood may represent a cardiovascular risk factor in adulthood. [Copyright &y& Elsevier]

Abstract: The aim of the study was to determine whether a decrease in the ventilatory response to carbon dioxide (CO2) in children with cystic fibrosis (CF) is related to a mechanical limitation of the respiratory muscle capacity. The ventilatory response during CO2 rebreathing was performed in 15 patients (mean forced expiratory volume in 1s (FEV1): 37±21% predicted, mean arterial CO2: 41±5mmHg). The slope of the minute ventilation normalised for weight per mmHgCO2 increment correlated negatively with respiratory muscle output, assessed by the oesophageal (p =0.002), the diaphragmatic pressure time product (p =0.01), and the tension time index (p =0.005). In addition, this slope was correlated with dynamic lung compliance (p <0.0001) and FEV1 (p =0.03) but not with airway resistance and maximal transdiaphragmatic pressure. Therefore, an excessive load imposed on the respiratory muscles explains the blunting of the ventilatory response to CO2 in young patients with CF. [Copyright &y& Elsevier]

Summary: Sarcoidosis is a multisytem granulomatous disease of unknown aetiology, most commonly affecting young adults. Divergent prevalence rates and clinical appearances in different races indicate the existence of predisposing genes, with probably a major effect of the major histocompatibility complex. The diagnosis is relatively rare in children. Lesions can occur in almost any tissue or organ but the lungs, lymphs nodes, eyes, skin and liver are the most commonly involved. Clinical symptoms are non-specific and often minor. The diagnosis can only be supported by typical histopathological findings with non-caseating epithelioid-cell granulomas. The prognosis seems to be more severe in younger children and in cases of multi-organ involvement. Corticosteroids are the therapeutic agents most commonly used and are indicated in cases of significant lung or eye lesions, cardiac, neurological, or multiorgan involvement. Close monitoring is mandatory during and after treatment because relapses are common. [Copyright &y& Elsevier]

Background: The effect of nutritional status and lung disease progression on diaphragm strength in young patients with cystic fibrosis remains unclear. Objective: The aim of this study was to investigate the effect of nutritional status and airway obstruction on diaphragm strength. Design: Twitch transdiaphragmatic pressure (Tw Pdi) obtained by bilateral anterior magnetic phrenic nerve stimulation, body mass index (BMI) z score, fat mass, fat-free mass (FFM), arm muscle circumference (AMC), forced expiratory volume in 1 s (FEV1), and functional residual capacity (FRC) were measured in 20 patients aged 15.1 ± 2.8 y (x ± SD). Values were expressed as a percentage of predicted values. Results: Mean ( ± SD) Tw Pdi was 24.3 ± 5.5 cm H2O. Univariate regression analysis showed positive correlations between Tw Pdi and nutrition scores (BMI z score: r = 0.63, P = 0.003; FFM: r = 0.47, P = 0.04; AMC: r = 0.45, P = 0.04), airway obstruction (FEV1: r = 0.68, P = 0.001), and arterial oxygen partial pressure (r = 0.68, P = 0.001). Negative correlations were observed between Tw Pdi and dynamic hyperinflation (FRC: r = -0.65, P = 0.005) and arterial carbon dioxide pressure (r = -0.50, P = 0.03). Furthermore, stepwise regression analysis showed that Tw Pdi correlated with BMI z score (r = 0.75, P = 0.0002) and FEV1 (r = 0.69, P = 0.001). Conclusions: Diaphragm strength is relatively well preserved in young patients with cystic fibrosis. However, the strength of the diaphragm decreases with the progression of malnutrition and airway obstruction. [ABSTRACT FROM AUTHOR]

Summary: Primary ciliary dyskinesia (PCD) is a genetic disease associated with defective ciliary structure and function. Chronic oto-sino-pulmonary infection is the most common clinical presentation. Patients should be monitored in centres with expertise in PCD. Regular respiratory monitoring consists of lung function tests, adapted to the patient’s age, and cough swab or sputum cultures. Chest X-rays are insensitive but the use of high-resolution computed tomography should be considered carefully to avoid excessive radiation. Treatment of the chronic suppuration of the lower airways relies on antibiotics to which the isolated bacteria are sensitive, together with respiratory physiotherapy and exercise to clear excessive bronchial secretions. Bronchodilators and anti-inflammatory agents have no proven benefit and should be prescribed, if at all, on an individual basis. Treatment of the lower airways should always be in conjunction with that of the upper airways. Importantly in PCD, respiratory disease may be controlled with the use of early, adequate and aggressive management. [Copyright &y& Elsevier]