Late respiratory failure in Jeune syndrome

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From Teamchef Arminius to Hermann Junior: glocalised discourse about a national foundation myth

If for much of the nineteenth and twentieth centuries, the ‘Battle of the Teutoburg Forest’, fought in 9 CE between Roman armies and Germanic tribes, was predominantly a reference point for nationalist and chauvinist discourses in Germany, the first decade of the twenty-first century has seen attempts to link public remembrance with local/regional identities on the one hand and international/intercultural contact on the other. In the run up to and during the ‘anniversary year’ of 2009, German media, sports institutions and various other official institutions articulating tourist, economic and political interests attempted to create a new ‘glocalised’ version of the public memory of the Teutoburg battle. Combining methods of Cognitive Linguistics and Critical Discourse Analysis, the paper analyses the narrative and argumentative topoi employed in this re-orientation of public memory, with a special emphasis on hybrid, post-national identity-construction. Das zweitausendjährige Gedenkjahr der „Schlacht im Teutoburger Wald“ im Jahr 2009 bot eine günstige Gelegenheit, die bis in die zweite Hälfte des 20. Jahrhunderts dominante Tradition nationalistisch–chauvinistischer Deutungen des Sieges von germanischen Stämmen über drei römische Legionen zu korrigieren und zu überwinden. Der Aufsatz analysiert mit Hilfe diskurslinguistischer Methoden die Anstrengungen regionaler Institutionen und Medien, die nationale Vereinnahmung des historischen Gedenkens kritisch zu thematisieren sowie neue, zum eine lokal situierte, zum andern international orientierte Identifikationsangebote anzubieten. Die Analyse zeigt, dass solche „de-nationalisierten“ Identifikationsangebote zwar teilweise auch früher verwendet wurden, aber heutzutage rekontextualisiert und auf innovative Weise in den Vordergrund gestellt werden

Practical recommendations for diagnosis and management of respiratory muscle weakness in late-onset Pompe disease

Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors’ own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease

Manejo de la defoliación y fertilización nitrogenada en pasto llorón, Eragrostis curvula, cv. Tanganyka : 1-rendimiento de materia seca, digestibilidad in vitro y rendimiento de materia seca digestible

p.7-14En una pradera de pasto llorón ubicada en Argerich se estudió el efecto de dos tratamientos de defoliación y tres niveles de fertilización nitrogenada durante tres ciclos consecutivos. El forraje se cortó con una frecuencia de 35 cm de altura o acumulado, hasta el 20 de febrero (primavera-verano), y sus rebrotes otoñales se cortaron en invierno (diferido). En primavera-verano el corte a 35 cm, produjo en promedio más materia seca que el acumulado y en el diferido a la inversa. Sus totales anuales fueron similares. La fertilización aumentó los rendimientos promedios parciales y totales (P menor a 0,05). La digestibiüdad primavera-estival fue mayor con cortes a 35 cm que en el acumulado y ambos tratamientos de defoliación respondieron al nitrógeno pero en sus diferidos el efecto fue de pequeña magnitud. Los rendimientos de materia seca digestible siguieron la misma tendencia que los de materia seca aunque, por influencia primavera-estival, en el total anual el corte a 35 cm superó al acumulado (P menor a 0,05). El rebrote primaveral sólo mostró un efecto residual parcial del fertilizante

Lack of effect of lowering LDL cholesterol on cancer: meta-analysis of individual data from 175,000 people in 27 randomised trials of statin therapy

<p>Background: Statin therapy reduces the risk of occlusive vascular events, but uncertainty remains about potential effects on cancer. We sought to provide a detailed assessment of any effects on cancer of lowering LDL cholesterol (LDL-C) with a statin using individual patient records from 175,000 patients in 27 large-scale statin trials.</p> <p>Methods and Findings: Individual records of 134,537 participants in 22 randomised trials of statin versus control (median duration 4.8 years) and 39,612 participants in 5 trials of more intensive versus less intensive statin therapy (median duration 5.1 years) were obtained. Reducing LDL-C with a statin for about 5 years had no effect on newly diagnosed cancer or on death from such cancers in either the trials of statin versus control (cancer incidence: 3755 [1.4% per year [py]] versus 3738 [1.4% py], RR 1.00 [95% CI 0.96-1.05]; cancer mortality: 1365 [0.5% py] versus 1358 [0.5% py], RR 1.00 [95% CI 0.93–1.08]) or in the trials of more versus less statin (cancer incidence: 1466 [1.6% py] vs 1472 [1.6% py], RR 1.00 [95% CI 0.93–1.07]; cancer mortality: 447 [0.5% py] versus 481 [0.5% py], RR 0.93 [95% CI 0.82–1.06]). Moreover, there was no evidence of any effect of reducing LDL-C with statin therapy on cancer incidence or mortality at any of 23 individual categories of sites, with increasing years of treatment, for any individual statin, or in any given subgroup. In particular, among individuals with low baseline LDL-C (<2 mmol/L), there was no evidence that further LDL-C reduction (from about 1.7 to 1.3 mmol/L) increased cancer risk (381 [1.6% py] versus 408 [1.7% py]; RR 0.92 [99% CI 0.76–1.10]).</p> <p>Conclusions: In 27 randomised trials, a median of five years of statin therapy had no effect on the incidence of, or mortality from, any type of cancer (or the aggregate of all cancer).</p&gt

Use of mechanical airway clearance devices in the home by people with neuromuscular disorders: effects on health service use and lifestyle benefits

Background; People with neuromuscular disorders (NMD) exhibit weak coughs and are susceptible to recurrent chest infections and acute respiratory complications, the most frequent reasons for their unplanned hospital admissions. Mechanical insufflation-exsufflation (MI-E) devices are a non-invasive method of increasing peak cough flow, improving cough efficacy, the clearance of secretion and overcoming atelectasis. There is limited published evidence on the impact of home use MI-E devices on health service utilisation. The aims of the study were: to assess the self-reported health and lifestyle benefits experienced as a result of home use of MI-E devices; and evaluate the effects of in-home use of MI-E devices on Emergency Department (ED) presentations, hospital admissions and inpatient length of stay (LOS). Methods: Individuals with NMD who were accessing a home MI-E device provided through Muscular Dystrophy Western Australia were invited to participate in a quantitative survey to obtain information on their experiences and self-assessed changes in respiratory health. An ad-hoc record linkage was performed to extract hospital, ED and mortality data from the Western Australian Department of Health (DOHWA). The main outcome measures were ED presentations, hospital separations and LOS, before and after commencement of home use of an MI-E device.Results: Thirty seven individuals with NMD using a MI-E device at home consented to participate in this study. The majority (73%) of participants reported using the MI-E device daily or weekly at home without medical assistance and 32% had used the machine to resolve a choking episode. The survey highlighted benefits to respiratory function maintenance and the ability to manage increased health care needs at home. Not using a home MI-E device was associated with an increased risk of ED presentations (RR = 1.76, 95% CI 1.1-2.84). The number of hospital separations and LOS reduced after the use of MI-E device, but not significantly. No deaths were observed in participants using the MI-E device at home. Conclusions: Home use of a MI-E device by people living with NMD may have a potential impact on reducing their health service utilisation and risk of death. Future research with greater subject numbers and longer follow-up periods is recommended to enhance this field of study

Fatigue in neuromuscular disorders: focus on Guillain–Barré syndrome and Pompe disease

Fatigue accounts for an important part of the burden experienced by patients with neuromuscular disorders. Substantial high prevalence rates of fatigue are reported in a wide range of neuromuscular disorders, such as Guillain–Barré syndrome and Pompe disease. Fatigue can be subdivided into experienced fatigue and physiological fatigue. Physiological fatigue in turn can be of central or peripheral origin. Peripheral fatigue is an important contributor to fatigue in neuromuscular disorders, but in reaction to neuromuscular disease fatigue of central origin can be an important protective mechanism to restrict further damage. In most cases, severity of fatigue seems to be related with disease severity, possibly with the exception of fatigue occurring in a monophasic disorder like Guillain–Barré syndrome. Treatment of fatigue in neuromuscular disease starts with symptomatic treatment of the underlying disease. When symptoms of fatigue persist, non-pharmacological interventions, such as exercise and cognitive behavioral therapy, can be initiated

Pompe disease diagnosis and management guideline

ACMG standards and guidelines are designed primarily as an educational resource for physicians and other health care providers to help them provide quality medical genetic services. Adherence to these standards and guidelines does not necessarily ensure a successful medical outcome. These standards and guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. in determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these standards and guidelines.Duke Univ, Med Ctr, Durham, NC 27706 USAOregon Hlth Sci Univ, Portland, OR 97201 USANYU, Sch Med, New York, NY USAUniv Florida, Coll Med, Powell Gene Therapy Ctr, Gainesville, FL 32611 USAIndiana Univ, Bloomington, in 47405 USAUniv Miami, Miller Sch Med, Coral Gables, FL 33124 USAHarvard Univ, Childrens Hosp, Sch Med, Cambridge, MA 02138 USAUniversidade Federal de São Paulo, São Paulo, BrazilColumbia Univ, New York, NY 10027 USANYU, Bellevue Hosp, Sch Med, New York, NY USAColumbia Univ, Med Ctr, New York, NY 10027 USAUniversidade Federal de São Paulo, São Paulo, BrazilWeb of Scienc