Late respiratory failure in Jeune syndrome

Item does not contain fulltext1 maart 201

The occupational success of young men who left school at sixteen

Digitised version produced by the EUI Library and made available online in 2020

Noninvasive Home Mechanical Ventilation in Adult Myotonic Dystrophy Type 1:A Systematic Review

Introduction: Chronic hypercapnic respiratory failure induces considerable morbidity and mortality in patients with myotonic dystrophy type 1 (DM1). This study systematically reviews the effects of noninvasive home mechanical ventilation (HMV) on gas exchange, quality of life, survival, and compliance in DM1 patients. Methods: A systematic Medline and Embase search was performed (January 1995 to January 2020). Records were screened for eligibility criteria, data were extracted from included studies, and risk of bias was assessed. We present findings mainly using a narrative synthesis. Results: Twenty-eight relevant full-text articles were screened for eligibility criteria. Nine studies were included. Randomized controlled trials were not found. Studies had either an observational (n = 8) or interventional (n = 1) design. In the pooled data analysis, HMV showed to improve mean oxygen saturation with 4.8% and decreased mean carbon dioxide values with 3 mm Hg. Compliance varied widely between studies, from no use to more than 12 h per day. Quality of life was not studied extensively, but some studies reported positive effects of HMV on symptoms of chronic respiratory failure. HMV may improve survival in DM1 patients with chronic hypercapnic respiratory failure. Conclusion: This review shows that HMV can improve gas exchange and relieve symptoms with a possible survival benefit in DM1 patients with chronic hypercapnic respiratory failure. Future studies should focus on developing strategies to optimize the timing of HMV initiation and to promote compliance

"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 features of centronuclear myopathy in the Netherlands

Centronuclear myopathy (CNM) is a heterogeneous group of muscle disorders primarily characterized by muscle weakness and variable degrees of respiratory dysfunction caused by mutations in MTM1, DNM2, RYR1, TTN and BIN1. X-linked myotubular myopathy has been the focus of recent natural history studies and clinical trials. Data on respiratory function for other genotypes is limited. To better understand the respiratory properties of the CNM spectrum, we performed a retrospective study in a non-selective Dutch CNM cohort. Respiratory dysfunction was defined as an FVC below 70% of predicted and/or a daytime pCO2 higher than 6 kPa. We collected results of other pulmonary function values (FEV1/FVC ratio) and treatment data from the home mechanical ventilation centres. Sixty-one CNM patients were included. Symptoms of respiratory weakness were reported by 15/47 (32%) patients. Thirty-three individuals (54%) with different genotypes except autosomal dominant (AD)-BIN1-related CNM showed respiratory dysfunction. Spirometry showed decreased FVC, FEV1 &amp; PEF values in all but two patients. Sixteen patients were using HMV (26%), thirteen of them only during night-time. In conclusion, this study provides insight into the prevalence of respiratory symptoms in four genetic forms of CNM in the Netherlands and offers the basis for future natural history studies.</p

The frontotemporal syndrome of ALS is associated with poor survival

Thirty percent of ALS patients have a frontotemporal syndrome (FS), defined as behavioral changes or cognitive impairment. Despite previous studies, there are no firm conclusions on the effect of the FS on survival and the use of non-invasive ventilation (NIV) in ALS. We examined the effect of the FS on survival and the start and duration of NIV in ALS. Behavioral changes were defined as >22 points on the ALS-Frontotemporal-Dementia-Questionnaire or ≥3 points on ≥2 items of the Neuropsychiatric Inventory. Cognitive impairment was defined as below the fifth percentile on ≥2 tests of executive function, memory or language. Classic ALS was defined as ALS without the frontotemporal syndrome. We performed survival analyses from symptom ons

Watering Dry Landscapes: A design for a climate adaptive moraine landscape of Nijmegen which facilitates a symbiotic relationship between human and nature

The Netherlands is confronted with drought more and more frequently. Two of the four climate scenarios predict that summers will become drier and extreme weather such as drought will occur longer and more often. Drought is a serious problem for multiple reasons. First of all it concerns large areas. Secondly it can take long before the effects are noticeable. Finally, the longer it lasts, the longer the soil and water system needs to recover.In the Netherlands the high sandy grounds are the most vulnerable to drought. In comparison with the low-lying peat and clay grounds, it is not possible to supplement water from the rivers. Because supply from external sources is not an option, the sandy grounds are completely dependent on rainfall which makes them more vulnerable. Humans strengthen the water shortage during drought as a result of spatial planning and water use. The current spatial planning of the landscape and water system ensures a fast discharge during wet periods in order to prevent water nuisance or flooding. So despite the fact that the Netherlands has become averagely wetter over the years, it still faces water shortages because the water is no longer available during dry periods. Furthermore the extraction of surface and groundwater for agriculture, industries and drinkwater companies increase the water shortage further during drought.Furthermore humans cause desiccation. Desiccation is a consistent damage to nature as a result of structural diminishing of the groundwater level in combination with a reduction of the amount of seepage in groundwater dependent nature. Desiccation is mainly the impact of the modification of the water system to fit the land use requirements’: drainage for agriculture (60%), groundwater extraction for drinking water, industry and irrigation (30%) and other factors such as the amount of pavement (10%). So for nature the effects of drought come on top of the desiccation it endures consistently, whereas the quality of nature is already declining rapidly. The graduation thesis answers the following research question:In what way can the landscape be used and adjusted to achieve a climate adaptive landscape for the moraine of Nijmegen and provide enrichment of the local ecosystem?This is done on the basis of literature research, site visits, mapping, reference analyzes and designs. The research is limited to the landscape of the Nijmegen moraine. Conditions for the design is a symbiosis between multispeciesThe structure of the graduation thesis is as follows. Chapter 2 describes the fascination from which the research arose. Chapter 3 then provides an explanation of the problem statement. Chapter 4 deals with the research statement. Chapter 5 deals with the methodology. Chapter 6 analyzes the Nijmegen moraine with the associated threats and values. Chapter 7 contains the design. Chapter 8 is the last chapter with the conclusion and reflection.Architecture, Urbanism and Building Sciences | Landscape Architectur

Chronische beademing in Nederland

Over the last 20 years the number of Dutch patients on home mechanical ventilation has increased from 200 to 2000. Home mechanical ventilation is a cost-effective treatment which significantly improves the quality of life of patients. In 2011 83% of patients on home mechanical ventilation in the Netherlands is living at home. In the future further growth can be expected in the number of patients with obesity hypoventilation syndrome and a potential new group of patients with COPD. Strict conditions are necessary to ensure safety in the complex care that home mechanical ventilation entails