Effectiveness of adenoidectomy in children with recurrent upper respiratory tract infections: open randomised controlled trial

Objective To assess the effectiveness of adenoidectomy in children with recurrent upper respiratory tract infections

The Phrenic Component of Acute Schizophrenia – A Name and Its Physiological Reality

Decreased heart rate variability (HRV) was shown for unmedicated patients with schizophrenia and their first-degree relatives, implying genetic associations. This is known to be an important risk factor for increased cardiac mortality in other diseases. The interaction of cardio-respiratory function and respiratory physiology has never been investigated in the disease although it might be closely related to the pattern of autonomic dysfunction. We hypothesized that increased breathing rates and reduced cardio-respiratory coupling in patients with acute schizophrenia would be associated with low vagal function. We assessed variability of breathing rates and depth, HRV and cardio-respiratory coupling in patients, their first-degree relatives and controls at rest. Control subjects were investigated a second time by means of a stress task to identify stress-related changes of cardio-respiratory function. A total of 73 subjects were investigated, consisting of 23 unmedicated patients, 20 healthy, first-degree relatives and 30 control subjects matched for age, gender, smoking and physical fitness. The LifeShirt®, a multi-function ambulatory device, was used for data recording (30 minutes). Patients breathe significantly faster (p<.001) and shallower (p<.001) than controls most pronouncedly during exhalation. Patients' breathing is characterized by a significantly increased amount of middle- (p<.001), high- (p<.001), and very high frequency fluctuations (p<.001). These measures correlated positively with positive symptoms as assessed by the PANSS scale (e.g., middle frequency: r = 521; p<.01). Cardio-respiratory coupling was reduced in patients only, while HRV was decreased in patients and healthy relatives in comparison to controls. Respiratory alterations might reflect arousal in acutely ill patients, which is supported by comparable physiological changes in healthy subjects during stress. Future research needs to further investigate these findings with respect to their physiological consequences for patients. These results are invaluable for researchers studying changes of biological signals prone to the influence of breathing rate and rhythm (e.g., functional imaging)

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL)

International audienceAbstractRare diseases are an important public health issue with high unmet need. The introduction of the EU Regulation on orphan medicinal products (OMP) has been successful in stimulating investment in the research and development of OMPs. Despite this advancement, patients do not have universal access to these new medicines. There are many factors that affect OMP uptake, but one of the most important is the difficulty of making pricing and reimbursement (P&R) decisions in rare diseases. Until now, there has been little consensus on the most appropriate assessment criteria, perspective or appraisal process. This paper proposes nine principles to help improve the consistency of OMP P&R assessment in Europe and ensure that value assessment, pricing and funding processes reflect the specificities of rare diseases and contribute to both the sustainability of healthcare systems and the sustainability of innovation in this field. These recommendations are the output of the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL), a collaboration between rare disease experts, patient representatives, academics, health technology assessment (HTA) practitioners, politicians and industry representatives. ORPH-VAL reached its recommendations through careful consideration of existing OMP P&R literature and through a wide consultation with expert stakeholders, including payers, regulators and patients. The principles cover four areas: OMP decision criteria, OMP decision process, OMP sustainable funding systems and European co-ordination. This paper also presents a guide to the core elements of value relevant to OMPs that should be consistently considered in all OMP appraisals. The principles outlined in this paper may be helpful in drawing together an emerging consensus on this topic and identifying areas where consistency in payer approach could be achievable and beneficial. All stakeholders have an obligation to work together to ensure that the promise of OMP’s is realised

Dyspneu

Dyspnoea is an important and common symptom in patients with pulmonary or cardiovascular disease. It is a vital signal that we all can experience, for instance during heavy exercise, but it can also be an expression of a variety of diseases. In this updated educational article, we provide an answer to 10 questions on the causes of dyspnoea and the effectiveness of various diagnostic and therapeutic strategies. We propose a strategy to assess dyspnoea in clinical practice. Key points are determining the severity of the problem, forming a differential diagnosis, thinking about the mechanism of dyspnoea and intervening in a timely manner. We conclude that the assessment and treatment of dyspnoea often requires a multidisciplinary approach

Dyspneu

Dyspnoea is an important and common symptom in patients with pulmonary or cardiovascular disease. It is a vital signal that we all can experience, for instance during heavy exercise, but it can also be an expression of a variety of diseases. In this updated educational article, we provide an answer to 10 questions on the causes of dyspnoea and the effectiveness of various diagnostic and therapeutic strategies. We propose a strategy to assess dyspnoea in clinical practice. Key points are determining the severity of the problem, forming a differential diagnosis, thinking about the mechanism of dyspnoea and intervening in a timely manner. We conclude that the assessment and treatment of dyspnoea often requires a multidisciplinary approach

Infectie met niet-tuberculeuze mycobacteriën bij 2 patiënten met bronchiëctasieën

Two patients, a woman aged 67 years and a man aged 80 years, had chronic cough among other respiratory symptoms. In the woman, chest radiograph and CT-scan revealed partial atelectasis of the middle lobe and bronchiectasis. In the man, an interstitial pattern was seen on chest radiograph, and CT scan showed diffuse bronchiectasis. In both the man and the woman, non-tuberculous mycobacteria were identified (Mycobacterium avium complex and Mycobacterium abscessus, respectively). Treatment was successful in both patients. Non-tuberculous mycobacteria can cause considerable pulmonary infection in patients with bronchiectasis

Velopharyngeal insufficiency treated with levator muscle repositioning and unilateral myomucosal buccinator flap

Purpose Velopharyngeal insufficiency (VPI) is common (20–30%) after cleft palate closure. The myomucosal buccinator flap has become an important treatment option for velopharyngeal insufficiency; however, published studies all use bilateral buccinator flaps. This study assesses outcomes with a unilateral myomucosal buccinator flap that might result in less operating time and might prevent the need of a bite block and an extra procedure for division of the flap pedicle at a later stage. Materials and methods Forty-two consecutive patients who underwent a unilateral myomucosal buccinator flap procedure were retrospectively reviewed. Overall clinical judgment of speech, speech analysis, and velopharyngeal closure were evaluated by a multidisciplinary cleft palate team. Results Median follow-up was 1.2 years. In 83% of patients, overall clinical judgment of optimal speech was obtained and thus no further velopharyngeal surgery was necessary. In 7 patients, further surgery was necessary, of whom 57% (4/7) had bilateral cleft lip−palate. Mean level of intelligibility improved significantly as evaluated by speech pathologists (2.5 ± 0.9 vs 3.5 ± 0.9; P < 0.0001) and by parents (2.1 ± 0.9 vs 3.2 ± 0.7; P < 0.0001). Mean level of resonance improved significantly (0.7 ± 0.9 vs 2.0 ± 1.0; P < 0.0001), and velopharyngeal closure improved in 83% postoperatively. Conclusion The unilateral myomucosal buccinator flap seems to be an effective and safe procedure and should become part of the armamentarium of cleft surgeons

Velopharyngeal insufficiency treated with levator muscle repositioning and unilateral myomucosal buccinator flap

Purpose Velopharyngeal insufficiency (VPI) is common (20–30%) after cleft palate closure. The myomucosal buccinator flap has become an important treatment option for velopharyngeal insufficiency; however, published studies all use bilateral buccinator flaps. This study assesses outcomes with a unilateral myomucosal buccinator flap that might result in less operating time and might prevent the need of a bite block and an extra procedure for division of the flap pedicle at a later stage. Materials and methods Forty-two consecutive patients who underwent a unilateral myomucosal buccinator flap procedure were retrospectively reviewed. Overall clinical judgment of speech, speech analysis, and velopharyngeal closure were evaluated by a multidisciplinary cleft palate team. Results Median follow-up was 1.2 years. In 83% of patients, overall clinical judgment of optimal speech was obtained and thus no further velopharyngeal surgery was necessary. In 7 patients, further surgery was necessary, of whom 57% (4/7) had bilateral cleft lip−palate. Mean level of intelligibility improved significantly as evaluated by speech pathologists (2.5 ± 0.9 vs 3.5 ± 0.9; P

Retinal Degeneration and Ionizing Radiation Hypersensitivity in a Mouse Model for Cockayne Syndrome

Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment. CSB functions in the transcription-coupled repair subpathway of nucleotide excision repair. This function may explain the UV sensitivity but hardly clarifies the other CS symptoms. Many of these, including retinopathy, are associated with premature aging. We studied eye pathology in a mouse model for CS. Csb(m/m) mice were hypersensitive to UV light and developed epithelial hyperplasia and squamous cell carcinomas in the cornea, which underscores the importance of transcription-coupled repair of photolesions in the mouse. In addition, we observed a spontaneous loss of retinal photoreceptor cells with age in the Csb(m/m) retina, resulting in a 60% decrease in the number of rods by the age of 18 months. Importantly, when Csb(m/m) mice (as well as Csa(−/−) mice) were exposed to 10 Gy of ionizing radiation, we noticed an increase in apoptotic photoreceptor cells, which was not observed in wild-type animals. This finding, together with our observation that the expression of established oxidative stress marker genes is upregulated in the Csb(m/m) retina, suggests that (endogenous) oxidative DNA lesions play a role in this CS-specific premature-aging feature and supports the oxidative DNA damage theory of aging