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Respiratory Medicine

This page shows you the most recent publications within this specialty of the MedWorm directory. This is page number 17.

Predicting preload responsiveness using simultaneous recordings of inferior and superior vena cava diameters
IntroductionEchocardiographic indices based on respiratory variations of superior and inferior vena cava diameters (?SVC and ?IVC, respectively) have been proposed as predictors of fluid responsiveness in mechanically ventilated patients but they have never been compared simultaneously in the same patient sample. The aim of this study was to compare the predictive value of these echocardiographic indices when concomitantly recorded in mechanically ventilated, septic patients. Methods: Septic shock patients requiring hemodynamic monitoring were prospectively enrolled over a 1-year period in a mixed medical surgical ICU of a...
Source: Critical Care - September 5, 2014 Category: Intensive Care Authors: Hélène CharbonneauBéatrice RiuMatthieu FaronArnaud MariMatt KurrekJean RuizThomas GeeraertsOlivier FourcadeMichèle GenestalStein Silva Source Type: research

Optimizing 4DCBCT projection allocation to respiratory bins.
Abstract 4D cone beam computed tomography (4DCBCT) is an emerging image guidance strategy used in radiotherapy where projections acquired during a scan are sorted into respiratory bins based on the respiratory phase or displacement. 4DCBCT reduces the motion blur caused by respiratory motion but increases streaking artefacts due to projection under-sampling as a result of the irregular nature of patient breathing and the binning algorithms used. For displacement binning the streak artefacts are so severe that displacement binning is rarely used clinically. The purpose of this study is to investigate if sharing proj...
Source: Physics in Medicine and Biology - September 5, 2014 Category: Physics Authors: O'Brien RT, Kipritidis J, Shieh CC, Keall PJ Tags: Phys Med Biol Source Type: research

Glucocorticoid Genes and the Developmental Origins of Asthma Susceptibility and Treatment Response.
Conclusions: Glucocorticoid genes are over-represented among genes implicated in fetal lung development. These genes influence asthma susceptibility and treatment response suggesting their involvement in the early ontogeny of asthma. PMID: 25192440 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory Cell and Molecular Biology)
Source: American Journal of Respiratory Cell and Molecular Biology - September 5, 2014 Category: Molecular Biology Authors: Sharma S, Kho AT, Chhabra D, Qiu W, Gaedigk R, Vyhlidal CA, Leeder JS, Barraza-Villarreal A, London SJ, Gilliland F, Raby BA, Weiss ST, Tantisira KG Tags: Am J Respir Cell Mol Biol Source Type: research

MicroRNAs in Pulmonary Hypertension.
Abstract Pulmonary arterial hypertension (PAH) is a devastating disease without effective treatment. Despite decades of research and development of novel treatments, PAH remains a fatal disease, suggesting an urgent need for better understanding of the pathogenesis of PAH. Recent studies suggest that microRNAs (miRNAs) are dysregulated in patients with PAH and in experimental pulmonary hypertension. Furthermore, normalization of a few miRNAs is reported to inhibit experimental pulmonary hypertension. We have reviewed the current knowledge about miRNA biogenesis, miRNA expression pattern, and their roles in regulati...
Source: American Journal of Respiratory Cell and Molecular Biology - September 5, 2014 Category: Molecular Biology Authors: Zhou G, Chen T, Raj JU Tags: Am J Respir Cell Mol Biol Source Type: research

Cigarette Smoke Induced DAMP Release from Necrotic Neutrophils Triggers Pro-inflammatory Mediator Release.
Conclusions: Together, we show for the first time that CS exposure induces neutrophil necrosis, leading to DAMP release, which may amplify CS-induced airway inflammation by promoting airway epithelial pro-inflammatory responses. PMID: 25192219 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory Cell and Molecular Biology)
Source: American Journal of Respiratory Cell and Molecular Biology - September 5, 2014 Category: Molecular Biology Authors: Heijink IH, Pouwels SD, Leijendekker C, de Bruin HG, Zijlstra GJ, van der Vaart H, Ten Hacken NH, van Oosterhout AJ, Nawijn MC, van der Toorn M Tags: Am J Respir Cell Mol Biol Source Type: research

Neutrophils Mediate Airway Hyperresponsiveness Following Chlorine-Induced Airway Injury in the Mouse.
Conclusion: Neutrophils increase AHR by molecular and mechanical mechanisms by increasing oxidative stress and occupation of luminal space in large airways. PMID: 25192041 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory Cell and Molecular Biology)
Source: American Journal of Respiratory Cell and Molecular Biology - September 5, 2014 Category: Molecular Biology Authors: McGovern TK, Goldberger M, Allard B, Farahnak S, Hamamoto Y, O'Sullivan M, Hirota N, Martel G, Rousseau S, Martin JG Tags: Am J Respir Cell Mol Biol Source Type: research

Effects of hydrolysed casein, intact casein and intact whey protein on energy expenditure and appetite regulation: a randomised, controlled, cross-over study.
In conclusion, dietary treatments when served as high-protein mixed meals induced similar effects on EE and appetite regulation, except for lipid oxidation, where RQ values suggest that it is higher after consumption of IW than after consumption of HC. PMID: 25191896 [PubMed - as supplied by publisher] (Source: The British Journal of Nutrition)
Source: The British Journal of Nutrition - September 5, 2014 Category: Nutrition Authors: Bendtsen LQ, Lorenzen JK, Gomes S, Liaset B, Holst JJ, Ritz C, Reitelseder S, Sjödin A, Astrup A Tags: Br J Nutr Source Type: research

Effects of a muscular training program on Chronic Obstructive Pulmonary Disease patients with moderate or severe exacerbation antecedents.
CONCLUSIONS: A 20 session muscular training program contributes to an improvement in HRQoL, exercise tolerance and illness prognosis in COPD subjects with moderate or severe exacerbations. CLINICAL REHABILITATION IMPACT: The intervention program could be easily implemented since it needs a minimum of human and technological resources. PMID: 25192182 [PubMed - as supplied by publisher] (Source: European Journal of Physical and Rehabilitation Medicine)
Source: European Journal of Physical and Rehabilitation Medicine - September 5, 2014 Category: Rehabilitation Authors: López-García A, Souto-Camba S, Aparicio-Blanco M, González-Doniz L, Saleta JL, Verea-Hernando H Tags: Eur J Phys Rehabil Med Source Type: research

Multi-center Study Comparing Case Definitions Used to Identify Patients with Chronic Obstructive Pulmonary Disease.
Conclusions: Findings highlight concerns about the applicability of findings in clinical trials to patients meeting other case definitions for COPD. PMID: 25192554 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - September 5, 2014 Category: Respiratory Medicine Authors: Prieto-Centurion V, Rolle AJ, Au DH, Carson SS, Henderson AG, Lee TA, Lindenauer PK, McBurnie MA, Mularski RA, Naureckas ET, Vollmer WM, Joese BJ, Krishnan JA Tags: Am J Respir Crit Care Med Source Type: research

Smooth Muscle in the Maintenance of Increased Airway Resistance Elicited by Methacholine in Humans.
Conclusions: The maintenance of airway narrowing despite methacholine clearance in humans is attributed to an intrinsic ability of ASM to maintain shortening during a progressive decrease of contractile stimulation. PMID: 25191967 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - September 5, 2014 Category: Respiratory Medicine Authors: Chapman DG, Pascoe CD, Lee-Gosselin A, Couture C, Seow CY, Paré PD, Salome CM, King GG, Bossé Y Tags: Am J Respir Crit Care Med Source Type: research

Enhanced Upper-airway Muscle Responsiveness is a Distinct Feature of Overweight/Obese Individuals Without Sleep Apnea.
Conclusions: Overweight/obese non-apneics have a moderately-compromised upper-airway structure that is mitigated by highly-responsive upper-airway dilator muscles to avoid OSA. Elucidating the mechanisms underlying enhanced muscle responses in this population may provide clues for novel OSA interventions. PMID: 25191791 [PubMed - as supplied by publisher] (Source: American Journal of Respiratory and Critical Care Medicine)
Source: American Journal of Respiratory and Critical Care Medicine - September 5, 2014 Category: Respiratory Medicine Authors: Sands SA, Eckert DJ, Jordan AS, Edwards BA, Owens RL, Butler JP, Schwab RJ, Loring SH, Malhotra A, White DP, Wellman A Tags: Am J Respir Crit Care Med Source Type: research

The current epidemiology and clinical decisions surrounding acute respiratory infections.
Abstract Acute respiratory infection (ARI) is a common diagnosis in outpatient and emergent care settings. Currently available diagnostics are limited, creating uncertainty in the use of antibacterial, antiviral, or supportive care. Up to 72% of ambulatory care patients with ARI are treated with an antibacterial, despite only a small fraction actually needing one. Antibiotic overuse is not restricted to ambulatory care: ARI accounts for approximately 5 million emergency department (ED) visits annually in the USA, where 52-61% of such patients receive antibiotics. Thus, an accurate test for the presence or absence o...
Source: Trends in Molecular Medicine - September 5, 2014 Category: Molecular Biology Authors: Zaas AK, Garner BH, Tsalik EL, Burke T, Woods CW, Ginsburg GS Tags: Trends Mol Med Source Type: research

Maternal Morbidity Associated With Early-Onset and Late-Onset Preeclampsia.
CONCLUSION:: Women with early-onset and late-onset preeclampsia have significantly higher rates of specific maternal morbidity compared with women without early-onset and late-onset disease. LEVEL OF EVIDENCE:: II. PMID: 25198279 [PubMed - as supplied by publisher] (Source: Obstetrics and Gynecology)
Source: Obstetrics and Gynecology - September 5, 2014 Category: OBGYN Authors: Lisonkova S, Sabr Y, Mayer C, Young C, Skoll A, Joseph KS Tags: Obstet Gynecol Source Type: research

Transforming growth factor β and severe asthma: A perfect storm
Asthma is a chronic inflammatory airway disease involving complex interplay between resident and infiltrative cells, which in turn are regulated by a wide range of host mediators. Identifying useful biomarkers correlating with clinical symptoms and degree of airway obstruction remain important to effective future asthma treatments. Transforming growth factor β (TGF-β) is a major mediator involved in pro-inflammatory responses and fibrotic tissue remodelling within the asthmatic lung. Its role however, as a therapeutic target remains controversial. (Source: Respiratory Medicine CME)
Source: Respiratory Medicine CME - September 5, 2014 Category: Respiratory Medicine Authors: Mazen Al-Alawi, Tidi Hassan, Sanjay H. Chotirmall Tags: Review Source Type: research

Impact of isoniazid resistance on virulence of global and south Indian clinical isolates of
Although isoniazid (INH) is one of the most active compounds used to treat and prevent tuberculosis (TB) worldwide. It is the cornerstone for treatment of drug-susceptible and latent TB infection, acting as a principle component in the current six-month short course chemotherapy regimen. However, resistance to INH is seen at an increasing frequency (1 in 106), as compared to resistance to other TB drugs [1] such that, resistance to INH, alone or in combination with other drugs, is now the second most common cause for resistance. (Source: Tuberculosis)
Source: Tuberculosis - September 5, 2014 Category: Respiratory Medicine Authors: Ameeruddin Nusrath Unissa, Luke Elizabeth Hanna Tags: Review Source Type: research

Hepcidin: inflammation versus hypoxia
(Source: Sleep and Breathing)
Source: Sleep and Breathing - September 5, 2014 Category: Respiratory Medicine Source Type: research

The outcome of community-acquired pneumonia in patients with chronic lung disease - a case-control study.
CONCLUSIONS: These rather unexpected results should be viewed as hypothesis generating, with various possible explanations for our findings. These include the possible influence of inhaled corticosteroid therapy, a possibly higher awareness of general practitioners and hospital physicians while treating patients with chronic lung diseases, a different infective agent spectrum or a different immune response. PMID: 25184329 [PubMed - as supplied by publisher] (Source: Swiss Medical Weekly)
Source: Swiss Medical Weekly - September 4, 2014 Category: Journals (General) Authors: Dusemund F, Chronis J, Baty F, Albrich WC, Brutsche MH Tags: Swiss Med Wkly Source Type: research

G.O.28: Sporadic late onset nemaline myopathy with MGUS: long term follow-up after melphalan and autologous stem cell transplantation
Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. Limb-girdle and axial weakness and atrophy predominate the clinical picture. Distal weakness, head drop, respiratory insufficiency, and dysphagia can also occur. Recognition of nemaline rods on trichrome staining in the biopsy is crucial. This can be confirmed by immunohistochemical staining of the muscle biopsy with alpha-actinin antibodies and by electron microscopy. SLONM is in a significant proportion (50 %) of cases associated with a monoclonal gammopathy of unknown significance (MGUS), a combination which portends...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: N.C. Voermans, O. Benveniste, M. Minnema, H. Lokhorst, M. Lammens, W. Meersseman, M. Delforge, T. Kuntzer, J. Novy, T. Pabst, F. Bouhour, N. Romero, V. Leblond, P. Van den Bergh, M.C. Vekemans, B. Engelen, B. Eymard Source Type: research

G.P.317: Renal dysfunction in patients with Fukuyama congenital muscular dystrophy
We examined possible relationships of Cystatin with the levels of blood natriuretic peptide and creatinine, as well as the cardiac echo results. Twenty-four patients were treated for cardiac dysfunction, but elevated Cystatin C was detected in only two. These two patients also showed proteinuria, glycosuria, hematuria and extremely high levels of β2-microglobulin on urine tests and were thus diagnosed as having kidney tubule cell damage. Since both patients were treated for intractable epilepsy with many types of antiepileptic drugs, including valproic acid (VPA), and had low serum carnitine levels, kidney tubule cell dam...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: K. Ishigaki, T. Murakami, T. Sato, K. Ishiguro, M. Funatsuka, I. Kato, K. Saito, M. Osawa, S. Nagata Source Type: research

G.P.320: Phenotypic heterogeneity of the c.919T>A FKRP gene mutation in humans and a mouse model
We report a new homozygous patient and reviewed the only 5 patients previously published (4 heterozygous and 1 homozygous). To understand the pathogenesis of the disease, two mice models, one with the mutation alone (FKRPTyr307Asn) and the second with a neomycin cassette (FKRP-NeoTyr307Asn), have been also generated. The two homozygous patients presented at birth with a severe muscle-eye-brain phenotype associated with mental retardation and severe structural eye and CNS involvement, such as lissencephaly and cerebellar hypoplasia. The three heterozygous patients, carrying the common c.826C>A mutation, developed a LGMD mil...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: E. Rivas, J. Vissing, M. Scoto, M. Fernandez-Fuente, T. Voit, F. Muntoni, S. Brown Source Type: research

G.P.316: Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy
Fukuyama congenital muscular dystrophy (FCMD) is the second most common type of muscular dystrophy in Japan. It is an autosomal recessive disorder caused by mutation in fukutin, characterised by the involvement of the central nervous system, resulting in mental retardation and seizures. We previously reported seizure frequency in FCMD as 62%, and some patients developed intractable seizures. Levetiracetam (LEV) has been administrated to patients with intractable epilepsy as a second line of treatment in Japan. In addition, LEV has been increasingly used for FCMD. Here we investigated the effectiveness of LEV for seizures i...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: T. Sato, K. Ishigaki, M. Shichiji, T. Saito, T. Murakami, K. Saito, M. Osawa, S. Nagata Source Type: research

G.P.314: Alpha-dystroglycanopathy: Two new patients with GMPPB mutations and a mild limb-girdle phenotype
Recessive mutations in the guanosine diphosphate mannose pyrophosphorylase B (GMPPB) gene have recently been reported to cause muscular dystrophies with hypoglycosylation of alpha-dystroglycan. Associated phenotypes range from severe congenital muscular dystrophies with structural brain involvement to limb girdle muscular dystrophy (LGMD). Here we describe two new patients with mild LGMD phenotype and GMPPB gene mutations. The first patient, a girl, was referred to our attention with a clinical history of acute-onset weakness at 10years of age and increased CK level (4807 UI). A diagnosis of polymyositis was first suggeste...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Sframeli, A. Sarkozy, C. Longman, L. Feng, S. Robb, A.Y. Manzur, R. Mein, M. Yau, R. Barresi, R. Phadke, C. Sewry, F. Muntoni Source Type: research

G.P.296: Severe, early onset Charcot-Marie-Tooth disease with rare presentations
Charcot–Marie–Tooth disease (CMT) has diverse clinical presentations and molecular genetic heterogeneity. Herein we describe the clinical features, neurophysiological and morphological studies of 2 fatal cases of CMT. Case 1 was a healthy newborn who developed foot drop, daily frequent vomiting and severe constipation at 7months of age. His arm and leg weakness rapidly progressed within a few months. He subsequently developed diaphragmatic paralysis and died at 2.5years of age due to respiratory failure. NCS/EMG showed a severe, axonal sensory and motor neuropathy. He had a novel and de novo mutation (c.296–297dupAAG...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S.W. Yum, L. Medne, T. Estilow, A. Glanzman, D. DiVito, C.G. Bönnemann Source Type: research

G.P.282: A novel mutation in DNAJB6 causes a more severe phenotype and greater loss of anti-aggregation function
In this study we investigate the anti-aggregation effect of DNAJB6 in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. We here present data for the anti-aggregation effect of all currently known mutations in DNAJB6. The new DNAJB6 mutant protein shows a greater loss of anti-aggregation activity than the other LGMD1D mutations. This loss of activity could be related to the early onset and faster progression seen in these patients. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: P.H. Jonson, J. Palmio, J. Sarparanta, H. Luque, B. Udd Source Type: research

G.P.283: A novel mutation in DNAJB6 gene causes a very severe early-onset LGMD1D disease
DNAJB6 was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 belongs to a class of co-chaperones characterized by a J-domain in the N-terminus. To date, six different mutations have been identified in several families from European, North American and Asian countries. The known mutations cause mainly adult onset, slowly progressive proximal muscle weakness, although occasional patients with earlier onset have been reported. The evolution of the disease has been very mild to moderate and respiratory involvement has not been reported. A Finnish family with four affected membe...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J.M.M. Palmio, A. Evilä, P.H. Jonson, M. Auranen, S. Kiuru-Enari, H. Pihko, P. Hackman, B. Udd Source Type: research

G.P.278: Facial dysmorphism in FKRP limb-girdle muscular dystrophy: About two cases
Mutations in the Fukutin-Related Protein gene (FKRP) account for a broad spectrum of phenotypes ranging from severe congenital muscular dystrophies to much milder limb-girdle muscular dystrophy (LGMD2I). In both, weakness and wasting of shoulder-girdle muscles, primary restrictive respiratory and cardiac involvement are classical features. To our knowledge, facial dysmorphic features have not been reported yet. The first woman developed, at age 12, a progressive pelvic weakness. Two biopsies were performed showing a dystrophic pattern with normal classical immunohistochemistry. At age 38, she was confined in a wheelchair a...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: A. Magot, S. Mercier, C. Bouchet Seraphin, J.M. Mussini, Y. Peron Source Type: research

G.P.280: Preserved expression of truncated telethonin in a patient with LGMD2G
Limb-girdle muscular dystrophy type 2G (LGMD2G) is a disorder caused by mutations in the TCAP gene that encodes for the striated muscle specific protein telethonin. LGMD2G is extremely rare and was initially identified in the Brazilian population. Recently, a small number of LGMD2G patients have been diagnosed in populations with diverse genetic backgrounds indicating a wider geographical distribution of this disorder. Here we describe a 49year old male patient presenting a classical LGMD phenotype. He was born from non-consanguineous healthy parents of Indian descent. He had normal motor milestones but became noticeable s...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: V. Straub, N.P. Davies, R. Barresi, C. Morris, C. Pickthall, K. Bushby Source Type: research

G.P.275: Expanding the clinical and genetic spectrum of FKRP-related myopathies in Argentinean pediatric patients
Conclusion: Case 1 presented as a CMD while the other two mainly have a LGMD2I phenotype. The last two cases presented with two identical, not previously reported variants. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: F. Lubieniecki, S. Monges, J. Mozzoni, A. Moresco, V. Aguerre, M.F. de Castro, N. Pozzo, E. Foncuberta, C. Bouchet Seraphin, N.B. Romero, A.L. Taratuto Source Type: research

G.P.276: Slowly progressive motor and respiratory dysfunction resulting from FKRP mutations: A natural history study
Mutations in FKRP, critical for normal glycosylation of alpha-dystroglycan, result in clinically heterogeneous muscular dystrophy. Purpose: Describe the clinical phenotype and progression in a cohort of patients with FKRP mutations who were followed with annual standardized assessments. Methods: IRB approval was obtained. Subjects are enrolled in an ongoing Dystroglycanopathy natural history study. The current report includes all patients with FKRP mutations. Data collection included MMT, myometry, timed function tests, mutation analysis and historical information. Forty-three participants, ages 1–51years, have been foll...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: C.D. Crockett, C.M. Stephan, S.R.H. Mockler, K.M. Laubscher, B.M. Zimmerman, K.D. Mathews Source Type: research

G.P.269: CAP-disease not-related to ACTA1, TPM2 or TPM3 genes
In conclusion, we attempt to characterize the clinical and morphological particularities of five cases presenting CAP disease, not-related to known genes. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Garibaldi, E. Malfatti, G. Brochier, J.M. Cuisset, C.A. Maurage, N. Monnier, B. Eymard, J. Laporte, M. Fardeau, N.B. Romero Source Type: research

G.P.267: Nebulin-associated myopathy: New genetic and pathologic presentations
This study represents the disease associated with novel NEB mutations marked by the presence of additional pathological features, as well as nemaline rods. Although mixed pathology has been already reported in core-rod myopathy with NEB mutations, muscle pathology in these patients is more characteristic, and clinical manifestation is much milder compared with the previous ones. This report suggests the expanded clinical and pathological spectrum of nebulin-associated myopathy with new genetic and pathologic features. Further, next genome sequencing might be helpful for searching mutations in big, huge-sized genes, such as...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y.E. Park, S.H. Park, J.M. Lee, J.H. Shin, B.R. Kang, C.H. Lee, D.S. Kim Source Type: research

G.P.268: Whole body muscular MRI in the NEB mutated nemaline myopathy
Conclusion: Selective involvement of the tongue and tibialis anterior muscles in NEB mutated patients makes WBMRI a useful tool for diagnosis of nemaline myopathy. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: I. Dabaj, S. Quijano-Roy, B. Estournet, B. Eymard, T. Stojkovic, C. Wallgren-Pettersson, P. Carlier, D. Gomez Andres, B. Dore, E. Malfatti, N. Romero, R. Carlier Source Type: research

G.P.265: Nebulin-related nemaline myopathy: Clinical and histopathological spectrum in Argentinean patients
Conclusion: NEB-related NM has a broad clinical spectrum particularly including congenital and distal myopathy forms that may mimic a neurogenic process. Our three patients presented with predominantly distal weakness and muscle biopsies showed rod or core-rod myopathies. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: S. Monges, F. Lubieniecki, F. Castro, J. Mozzoni, V. Leske, P. Gravina, M. Saccoliti, E. Malfatti, J. Bohm, J. Laporte, N.B. Romero, A.L. Taratuto Source Type: research

G.P.259: Nationwide patient registry of GNE myopathy in Japan
Conclusion. The patient registry for GNE myopathy in Japan is useful for understanding the disease, and recruiting genetically confirmed GNE myopathy patients to the upcoming clinical trials. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: M. Mori-Yoshimura, Y.K. Hayashi, N. Yonemoto, M. Murata, S. Takeda, I. Nishino, E. Kimura Source Type: research

G.P.260: Clinical diversity in patients with nemaline myopathy
This study showed the phenotypic heterogeneity of NM is not only with clinical features but also with pathological findings in our patient pool. Wider application of whole exome sequencing may help overcome the phenotypic and genotypic diversity in the diagnosis of NM. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J.M. Lee, S.J. Hwang, Y.E. Park, J.H. Shin, D.S. Kim Source Type: research

G.P.251: The Italian Registry of Limb Girdle Muscular Dystrophy: Natural history, genotype–phenotype correlations and outcome measures
Limb girdle muscular dystrophies (LGMD) are genetic heterogeneous disorders characterized by slow but progressive muscular impairment. Despite the recent identification of new genes, about 30% of these LGMDs remain without molecular diagnosis. However clinical-genetic correlations are fundamental for genetic counselling, definition of natural history and insight into pathogenesis. We collected detailed clinical, biochemical, histological and molecular data of 467 Italian LGMD patients, belonging to 8 neuromuscular Italian centres. Detailed data about neuromuscular, cardiological, respiratory involvement as far as molecular...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: F. Magri, A. Govoni, R. Brusa, C. Angelini, M.G. D’Angelo, T. Mongini, A. Toscano, G. Siciliano, G. Tomelleri, M. Mora, V. Nigro, E. Pegoraro, L. Morandi, O. Musumeci, M. Sciacco, G. Ricci, I. Moroni, S. Gandossini, R. Del Bo, F. Fortunato, D. Ronchi, S Source Type: research

G.P.238: Phenotypic spectrum of three patients affected by TRPV4 mutations
Mutations in the TRPV4 (transient receptor potential vanilloid 4) gene, encoding a non-selective cation channel, causes congenital distal spinal muscular atrophy, scapuloperoneal spinal muscular atrophy and inherited motor sensory neuropathy type 2C. Here we report the clinical phenotype of three patients belonging to 2 families that affected member fit with the previously described phenotype in the TRPV4 gene mutations. Patient 1 is the mother of patient 2, current age 44years old. Symptoms began at 20years old with difficulties on walking in her heels and developing progressive scapuloperoneal muscle atrophy syndrome and...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: C. Ortez, J. Fernandez, E. López Laso, A. Nascimento, M. Olivé, C. Jou, C. Jimenez Mallebrera, F. Baas, J. Colomer Source Type: research

G.P.235: Growth and endocrinological evaluation in spinal muscular atrophies – A single centre study of 43 pediatric patients
Spinal muscular atrophies (SMA) are hereditary monogenetic disorders characterized by a ubiquitary deficiency of the survival motor neuron (SMN) protein in every cell, leading to a multisystemic disorder which mostly affects alpha-motoneurons for unexplained reasons. Research has focused on the degeneration of alpha-motoneurons in order to find new treatment options; however, in SMA animal models disturbances of glucose and bone metabolisms are also described. In addition, clinical evaluation of our patients often shows hirsutism and early occurrence of pubic hair which was not observed in other neuromuscular disorders. Ac...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: H. Trippe, A. Boukidis, B. Hauffa, K. Konrad, U. Schara Source Type: research

G.P.216: Allele-specific silencing of a dominant-negative mutation using siRNA or LNA antisense oligonucleotides alleviates the phenotype of a cellular model of Ullrich congenital muscular dystrophy
This study provides further insights into the comparative allele-specificity of these two pathways to target dominant mutations at the transcript level, with the goal of developing optimal compounds for in vivo application. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: V. Bolduc, Y. Zou, M. Lindow, S. Obad, C.G. Bönnemann Source Type: research

G.P.213: Investigating the molecular mechanisms underlying the progression of collagen VI-related muscular dystrophies
Ullrich congenital muscular dystrophy (UCMD) presents at birth or in infancy with progressive muscle weakness, joint contractures and respiratory failure, and is caused by mutations in the three genes coding for collagen VI. Dysfunction of the collagen VI microfibrills in the extracellular matrix perturbs the normal extracellular matrix/muscle interface, leading to yet incompletely characterized downstream effects. Review of muscle biopsies from UCMD patients show that the histological appearance changes with disease progression, suggesting changing disease-driving pathways throughout the progression of the disease. In pre...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: E. Guadagnin, J. Dastgir, L. Yang, K. Johnson, Q. Wang, Y. Hu, A. Dillmann, M. Cookson, C. Bönnemann Source Type: research

T.P.22: Two cases of late-onset Pompe disease treated with enzyme replacement therapy: Clinical outcome for 3years follow-up
We present 2 cases of Late-onset pompe disease (LOPD) treated with ERT for about 3years. Case 1: A 33-year-old man was admitted in our hospital for dyspnea. At 16years old, He felt progressive weakness of his lower limbs. At 18years old, He felt tiredness when he climbed the stairs. At 29years old, he had mild respiratory difficulty. At 33years old, he admitted in our hospital and showed proximal weakness, low forced vital capacity (FVC) and elevated creatine kinase (CK) level. On dried blood spot (DBS) test and molecular analysis, low GAA activity and two mutations (c.1309C>T, c.1316T>A) were detected. He applied non-inva...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J.H. Lee, Y.N. Cho, H.J. Park, Y.C. Choi Source Type: research

T.P.17: Asymptomatic Pompe disease: A study of 6 patients
To describe 6 patients with asymptomatic Pompe disease (APD). Background. Pompe disease (PD) is a muscle glycogenosis due to acid alpha-glucosidase (GAA) deficiency, potentially leading to limb girdle muscle weakness and respiratory insufficiency in adults. Because of the availability of enzyme replacement therapy (ERT), and the improvement of enzymatic assessment techniques, an increasing number of patients are now diagnosed at an early stage of the disease. We studied 6 patients diagnosed with APD in France in the 1991–2013 interval. PD diagnosis was established on GAA enzyme activity levels and GAA gene analysis. All ...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: P. Laforêt, R.Y. Carlier, K. Laloui, P. Carlier, E. Salort-Campana, J. Pouget, A. Echaniz-Laguna Source Type: research

T.P.20: Effect of enzyme replacement therapy in late onset Pompe disease: Open pilot study of 60weeks follow up
In this study, we have evaluated the efficacy and adverse events of ERT for 60weeks in Korean LOPD patients. Five Korean LOPD patients were included in the study. At baseline, clinical and laboratory features including motor and pulmonary function was assessed, and rhGAA was infused every two weeks. Then, patients were examined at every 12weeks interval to evaluate their changes in motor and pulmonary function for 48weeks along with adverse reactions of ERT. The motor and pulmonary function of the patients demonstrated mild improvement or stabilization after 60weeks of ERT. And none of them showed deterioration in their am...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: J.S. Park, Y.E. Park, Y.C. Choi, J.H. Shin, J.M. Lee, D.S. Kim Source Type: research

T.P.15: Enzymotherapy in late onset Pompe disease patients: a 4-year longitudinal study using quantitative MRI
Considering the clinical heterogeneity of patients with a late onset form of Pompe disease, we clearly need reliable quantitative surrogate markers allowing to accurately determine the effects of enzyme replacement therapy (ERT). In the present study, we investigated, using quantitative MRI and usual clinical tests, the effects ERT in three patients with a late onset form of the Pompe disease. Data were compared before and throughout a 4-year ERT period. MR images were processed using a robust automatic segmentation tool in order to quantify muscle, subcutaneous adipose tissue and intramuscular adipose tissue. Motor (6-min...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: E. Doche, E. Salort-Campana, A. Le Troter, S. Attarian, J. Pouget, D. Bendahan Source Type: research

T.P.16: Clinical and molecular characteristics of 33 patients with Late Onset Pompe Disease (LOPD): Unusual phenotypes, novel mutations and therapeutic responses
Pompe disease is a rare metabolic myopathy due to mutations in the gene encoding acid alpha-glucosidase (GAA) involved in glycogen degradation. Two clinical presentations can occur: infantile form and late-onset form. Herein, we describe a cohort of 33 late-onset Pompe disease (LOPD) patients diagnosed at our centre from 1997 to date. Our aim is to present clinical and functional data collected in this long time lapse and to describe unusual clinical and genetic features. LOPD diagnosis was made with muscle GAA residual activity assay andGAA sequence analysis. At follow-up patients underwent motor, respiratory, cardiac and...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: F. Montagnese, O. Musumeci, E. Barca, S. Romeo, A. Ciranni, M. Aguennouz, C. Rodolico, A. Toscano Source Type: research

G.P.189: Exercise intolerance associated with atypical facial muscle hypertrophy related to mitochondrial tRNA (Pro) gene mutation
We report a family where 7 female subjects presented with various degree of exercise intolerance since childhood. A common and original feature shared by affected members was the increased volume of the masseter muscle systematically occurring after feeding, making them looking like a hamster. Limb muscle size was not affected by effort. Patients also complained of keloid scars and for some of them of congenital cataract. The index case underwent full examination including clinical assessment, electromyography, electro-retinography, muscle biopsy, pulmonary function testing, exercise test, genetic testing. Clinical and EDX...
Source: Neuromuscular Disorders - September 4, 2014 Category: Neurology Authors: Y. Péréon, A. Magot, G. Fayet, S. Mercier, J.M. Mussini, K. Auré, A. Lombès, C. Jardel Source Type: research