"A randomized trial of initiation of chronic non-invasive mechanical ventilation at home vs in-hospital in patients with Neuromuscular Disease and thoracic cage disorder":The Dutch Homerun Trial

Background: There is an increasing demand for home mechanical ventilation (HMV) in patients with chronic respiratory insufficiency. At present, noninvasive ventilation is exclusively initiated in a clinical setting at all four centers for HMV in the Netherlands. In addition to its high societal costs and patient discomfort, commencing HMV is often delayed because of a lack of hospital bed capacity. Research Question: Is HMV initiation at home, using a telemonitoring approach, noninferior to in-hospital initiation in a nationwide study? Study Design and Methods: We conducted a nationwide, randomized controlled noninferiority trial, in which every HMV center recruited 24 patients (home [n = 12] vs hospital [n = 12]) with a neuromuscular disease or thoracic cage disorder, all with an indication to start HMV. Change in arterial CO 2 (PaCO 2) over a 6-month period was considered the primary outcome, and quality of life and costs were assessed as secondary outcomes. Results: A total of 96 patients were randomized, most of them diagnosed with neuromuscular disease. We found a significant improvement in PaCO 2 within both groups (home: from 6.1 to 5.6 kPa [P <.01]; hospital: from 6.3 to 5.6 kPa [P <.01]), with no significant differences between groups. Health-related quality of life showed significant improvement on various subscales; however, no significant differences were observed between the home and hospital groups. From a societal perspective, a cost reduction of more than €3,200 ($3,793) per patient was evident in the home group. Interpretation: This nationwide, multicenter study shows that HMV initiation at home is noninferior to hospital initiation, as it shows the same improvement in gas exchange and health-related quality of life. In fact, from a patient's perspective, it might even be a more attractive approach. In addition, starting at home saves over €3,200 ($3,793) per patient over a 6-month period. Trial Registry: ClinicalTrials.gov; No.: NCT03203577; URL: www.clinicaltrials.gov

Respiratory muscle function in patients with nemaline myopathy

Publisher Copyright: © 2022 The AuthorsIn this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24). Forced vital capacity (FVC) and maximal inspiratory pressure were decreased in typical NM in comparison with childhood-onset NM with slowness (32.0 [29.0-58.5] vs 81.0 [75.0-87.0]%, p<0.01, and 35.0 [24.0-55.0] vs 81.0 [65.0-102.5] cmH2O, p<0.01). Eight patients with childhood-onset NM with slowness had respiratory muscle weakness. There was a low correlation between FVC and Motor Function Measure scores (r=0.48, p<0.01). End-inspiratory diaphragm thickness and twitch mouth pressure were decreased in patients requiring home mechanical ventilation compared to non-ventilated patients with normal lung function (1.8 [1.5-2.4] vs 3.1 [2.0-4.6] mm, p=0.049, and -7.9 [-10.9- -4.0] vs -14.9 [-17.3- -12.6], p=0.04). Our results show that respiratory muscle weakness is present in all NM forms, including childhood-onset NM with slowness, and may be present irrespective of the degree of general motor function impairment. These findings highlight the importance for screening of respiratory function in patients with NM to guide respiratory management.Peer reviewe

Influence of age and sex steroids on bone density and geometry in middle-aged and elderly European men

&lt;p&gt;&lt;b&gt;Summary&lt;/b&gt;&lt;/p&gt; &lt;p&gt;The influence of age and sex steroids on bone density and geometry of the radius was examined in two European Caucasian populations. Age-related change in bone density and geometry was observed. In older men, bioavailable oestradiol may play a role in the maintenance of cortical and trabecular bone mineral density (BMD). &lt;/p&gt; &lt;p&gt;&lt;b&gt;Introduction&lt;/b&gt;&lt;/p&gt; &lt;p&gt;To examine the effect of age and sex steroids on bone density and geometry of the radius in two European Caucasian populations.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Methods&lt;/b&gt;&lt;/p&gt; &lt;p&gt;European Caucasian men aged 40–79 years were recruited from population registers in two centres: Manchester (UK) and Leuven (Belgium), for participation in the European Male Ageing Study. Total testosterone (T) and oestradiol (E2) were measured by mass spectrometry and the free and bioavailable fractions calculated. Peripheral quantitative computed tomography was used to scan the radius at distal (4%) and midshaft (50%) sites.&lt;/p&gt; &lt;p&gt;&lt;b&gt;Results&lt;/b&gt;&lt;/p&gt; &lt;p&gt;Three hundred thirty-nine men from Manchester and 389 from Leuven, mean ages 60.2 and 60.0 years, respectively, participated. At the 50% radius site, there was a significant decrease with age in cortical BMD, bone mineral content (BMC), cortical thickness, and muscle area, whilst medullary area increased. At the 4% radius site, trabecular and total volumetric BMD declined with age. Increasing bioavailable E2 (bioE2) was associated with increased cortical BMD (50% radius site) and trabecular BMD (4% radius site) in Leuven, but not Manchester, men. This effect was predominantly in those aged 60 years and over. In older Leuven men, bioavailable testosterone (Bio T) was linked with increased cortical BMC, muscle area and SSI (50% radius site) and total area (4% radius site).&lt;/p&gt; &lt;p&gt;&lt;b&gt;Conclusions&lt;/b&gt;&lt;/p&gt; &lt;p&gt;There is age-related change in bone density and geometry at the midshaft radius in middle-aged and elderly European men. In older men bioE2 may maintain cortical and trabecular BMD. BioT may influence bone health through associations with muscle mass and bone area.&lt;/p&gt

Management of Respiratory Emergencies in Chronic Neuromuscular Disease

Respiratory failure is the most common cause of morbidity and mortality in patients with chronic neuromuscular disease and may develop gradually or as an “acute-on chronic” emergency situation. Long-term mechanical ventilation is the main therapeutic intervention leading to increased life expectancy and health-related quality of life in chronic neuromuscular disorders, and this chapter deals with the respiratory management in such conditions, which differs from acute disorders outlined in Chap. 3.</p

Pneumothorax as a complication of lung volume recruitment

Lung volume recruitment involves deep inflation techniques to achieve maximum insufflation capacity in patients with respiratory muscle weakness, in order to increase peak cough flow, thus helping to maintain airway patency and improve ventilation. One of these techniques is air stacking, in which a manual resuscitator is used in order to inflate the lungs. Although intrathoracic pressures can rise considerably, there have been no reports of respiratory complications due to air stacking. However, reaching maximum insufflation capacity is not recommended in patients with known structural abnormalities of the lungs or chronic obstructive airway disease. We report the case of a 72-year-old woman who had poliomyelitis as a child, developed torsion scoliosis and post-polio syndrome, and had periodic but infrequent asthma attacks. After performing air stacking for 3 years, the patient suddenly developed a pneumothorax, indicating that this technique should be used with caution or not at all in patients with a known pulmonary patholog

A Randomized Trial of Initiation of Chronic Noninvasive Mechanical Ventilation at Home vs In-Hospital in Patients With Neuromuscular Disease and Thoracic Cage Disorder The Dutch Homerun Trial

BACKGROUND: There is an increasing demand for home mechanical ventilation (HMV) in patients with chronic respiratory insufficiency. At present, noninvasive ventilation is exclusively initiated in a clinical setting at all four centers for HMV in the Netherlands. In addition to its high societal costs and patient discomfort, commencing HMV is often delayed because of a lack of hospital bed capacity. RESEARCH QUESTION: Is HMV initiation at home, using a telemonitoring approach, noninferior to in-hospital initiation in a nationwide study? STUDY DESIGN AND METHODS: We conducted a nationwide, randomized controlled non-inferiority trial, in which every HMV center recruited 24 patients (home [n = 12] vs hospital [n = 12] ) with a neuromuscular disease or thoracic cage disorder, all with an indication to start HMV. Change in arterial CO2 (PaCO2) over a 6-month period was considered the primary outcome, and quality of life and costs were assessed as secondary outcomes. RESULTS: A total of 96 patients were randomized, most of them diagnosed with neuromuscular disease. We found a significant improvement in PaCO2 within both groups (home: from 6.1 to 5.6 kPa [P <.01]; hospital: from 6.3 to 5.6 kPa [P <.01]), with no significant differences between groups. Health-related quality of life showed significant improvement on various subscales; however, no significant differences were observed between the home and hospital groups. From a societal perspective, a cost reduction of more than (sic)3,200 ((sic)3,793) per patient was evident in the home group. INTERPRETATION: This nationwide, multicenter study shows that HMV initiation at home is noninferior to hospital initiation, as it shows the same improvement in gas exchange and health-related quality of life. In fact, from a patient's perspective, it might even be a more attractive approach. In addition, starting at home saves over (sic)3,200 ($3,793) per patient over a 6-month period

Congenital cytomegalovirus infection: review of the epidemiology and outcome

Cytomegalovirus (CMV) is one of the most common viral causes of congenital infection. A future decision to lower its incidence by vaccination will depend on epidemiological conditions within a country and on the safety of the vaccine to be used, because a life vaccine may cause latency and subsequent reactivation that still may harm the fetus. The aim was to review the epidemiological studies published so far, with respect to factors that affect the incidence of congenital CMV infection, and factors that may influence its outcome, such as preexisting maternal immunity. The study included the data of 19 studies that were retrieved from a MEDLINE search during the period 1977 to 1997. The incidence of congenital CMV infection varied between 0.15% and 2.0% and seemed to correlate with the level of preexisting immunity in the population. Although preexisting maternal immunity was reported to strongly reduce transmission, the severity of congenital CMV infection (symptoms at birth and or sequelae later in life) was not significantly greater after virus transmission due to a primary infection of the mother as compared with recurrence or reinfection. The data indicate that preexisting immunity of the mother does not significantly mitigate the outcome of congenital infection. Moreover, life vaccines may bear a serious risk when transmittable to the fetus. Target Audience: Obstetricians and Gynecologists, Family Physicians Learning Objectives: After completion of this article, the reader will be able to describe the natural course of a CMV infection, to list the potential sequelae of a congenital CMV infection, to outline potential strategies to prevent transmission of CMV, and to summarize the diagnostic work up of a patient with a potential CMV infection

Respiratory muscle function in patients with nemaline myopathy

In this cross-sectional study, we comprehensively assessed respiratory muscle function in various clinical forms of nemaline myopathy (NM) including non-volitional tests for diaphragm function. Forty-two patients with NM were included (10 males (25-74 y/o); 32 females (11-76 y/o)). The NM forms were typical (n=11), mild (n=7), or childhood-onset with slowness of movements (n=24). Forced vital capacity (FVC) and maximal inspiratory pressure were decreased in typical NM in comparison with childhood-onset NM with slowness (32.0 [29.0-58.5] vs 81.0 [75.0-87.0]%, p<0.01, and 35.0 [24.0-55.0] vs 81.0 [65.0-102.5] cmH2O, p<0.01). Eight patients with childhood-onset NM with slowness had respiratory muscle weakness. There was a low correlation between FVC and Motor Function Measure scores (r=0.48, p<0.01). End-inspiratory diaphragm thickness and twitch mouth pressure were decreased in patients requiring home mechanical ventilation compared to non-ventilated patients with normal lung function (1.8 [1.5-2.4] vs 3.1 [2.0-4.6] mm, p=0.049, and -7.9 [-10.9- -4.0] vs -14.9 [-17.3- -12.6], p=0.04). Our results show that respiratory muscle weakness is present in all NM forms, including childhood-onset NM with slowness, and may be present irrespective of the degree of general motor function impairment. These findings highlight the importance for screening of respiratory function in patients with NM to guide respiratory management

Phrenic neuropathy and diaphragm dysfunction in neuralgic amyotrophy

OBJECTIVE: To describe the clinical phenotype and recovery of diaphragm dysfunction caused by neuralgic amyotrophy in a large cohort of patients, to improve accurate awareness of this entity, and to encourage adoption of a standardized approach for diagnosis and treatment. METHODS: This observational cohort study recruited adult patients with neuralgic amyotrophy and symptoms of idiopathic phrenic neuropathy from the database of the Dutch expert center for neuralgic amyotrophy and the Dutch centers for home mechanical ventilation. Demographic and clinical information on diagnosis, symptoms, and recovery was obtained from chart review. We attempted to contact all patients for a follow-up interview. RESULTS: Phrenic neuropathy occurs in 7.6% of patients with neuralgic amyotrophy. Unilateral diaphragmatic dysfunction and bilateral diaphragmatic dysfunction are frequently symptomatic, causing exertional dyspnea, orthopnea, disturbed sleep, and excessive fatigue. Diagnostic practices varied widely and were often not optimally targeted. The majority of patients experienced at least moderate recovery within 2 years. CONCLUSION: We recommend screening every patient with neuralgic amyotrophy for diaphragm dysfunction by asking about orthopnea and by performing upright and supine vital capacity screening and diaphragm ultrasound in cases of suspected phrenic neuropathy to optimize diagnosis and care