Complex chromosomal rearrangements in a patient with oligozoospermia and Charcot–Marie–Tooth disease

Abstract

WCN 2013 No: 2471 Topic: 7 — Neuromuscular disorders FGF21: A biomarker of neuromuscular diseases E. Pal, E. Lovadi, M. Csereklyei, A. Sebők, S. Komoly. Neurology, University of Pecs, Pecs, Hungary Background: Human fibroblast growth factor 21 (FGF21) is a 181 amino acid protein that belongs to the human FGF superfamily. The basic biological role of FGF21 is the regulation of the glucose and lipid metabolism. Objective: Recently two observations were published where they showed elevated circulating FGF21 in human mitochondrial diseases, therefore it was suggested that FGF21 might be a biomarker of mitochondrial diseases. Patients and methods: The serum level of FGF21 was determined by ELISA in blood samples from 20 healthy subjects, 15 patients with myotonic dystrophy type 1 (MD1) and 25 patients with mitochondrial diseases. Results: Among healthy subjects serum FGF21 correlated with body mass index (BMI). Mean FGF21 level was significantly raised in MD1 compared to healthy subjects (424 ± 328 and 207 ± 165 pg/ml, respectively, p b 0.05, Mann–Whitney U test). Among mitochondrial patients FGF21 was elevated only in PEO (progressive external ophthalmoplegia) group (589 ± 496 pg/ml, p b 0.05, Mann–Whitney U test), but was not significantly altered in MELAS and myopathy patients. FGF21 correlated with serum creatine kinase (CK) and lactate levels, with clinical severity score as well as some biopsy findings (e.g. ratio of ragged red fibers and mitochondrial inclusions). Conclusion: Our study implicates that serum FGF21 might be a biomarker for neuromuscular disorders. In contrast to the previous findings our results showed that elevation of FGF21 is not specific and not restricted to mitochondrial disorders. Further research is necessary to findoutwhat neuromuscular disease groups are associated with abnormal FGF metabolism and to investigate the molecular pathomechanism. doi:10.1016/j.jns.2013.07.1649 Abstract — WCN 2013 No: 2517 Topic: 7 — Neuromuscular disorders Complex chromosomal rearrangements in a patient with oligozoospermia and Charcot–Marie–Tooth disease WCN 2013 No: 2517 Topic: 7 — Neuromuscular disorders Complex chromosomal rearrangements in a patient with oligozoospermia and Charcot–Marie–Tooth disease G.J. Braathen, V. Haugan, A.G.F. Helland, K.O. Clausen. Department of Laboratory Medicine, Section of Medical Genetics, Telemark Hospital, Skien, Norway; Head and Neck ResearchGroup, Research Centre, Akershus University Hospital, Lorenskog, Norway; Campus AHUS, Akershus University Hospital, University of Oslo, Lorenskog, Norway Background: Complex chromosomal rearrangements (CCR) occurring in phenotypically normal persons are rare, about 255 cases have been reported. Most familial cases have a normal phenotype with apparently balanced rearrangements while de novo cases usually are unbalanced or apparently balanced but with associated multiple anomalies as well as mental retardation. Material and methods: A couple with fertility problems was investigated. He had oligozoospermia and Charcot–Marie–Tooth disease. Results: Chromosomal analysis and fluorescence in situ hybridization with whole chromosome paint revealed that he had apparently balanced translocation between chromosome 2, 7 and 14. Array comparative genomic hybridization was normal. Conclusion: To our knowledge, this is a new case of CCR identified in the human population and for the first time a CCR is identified in a patient with CMT. doi:10.1016/j.jns.2013.07.1650 Abstract — WCN 2013 No: 2537 Topic: 7 — Neuromuscular disorders Global proprioceptive resonance: Effects on neuromuscular and postural systems WCN 2013 No: 2537 Topic: 7 — Neuromuscular disorders Global proprioceptive resonance: Effects on neuromuscular and postural systems U. Garagiola, A. Maffei, G. Farronato. Dental and Surgical Biomedical Sciences Department, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy Background: The application of mechanical multifocal vibration (MFV) at targeted frequencies and short duration produces positive effects on bone structure, muscles and joints regulating neuromuscular response. Objective: The purpose of this study was to investigate the effects of the global proprioceptive resonance (GPR) by MFV on muscle performance and body balance in healthy subjects. Materials and methods: Sixty volunteers (26 males and 24females, aged 19–25 years) underwent, in a randomized order, both the electromyography–electrognatography (EMG–EGN) and stabilometry before the GPR and immediately after it. GPR was the ergonomic structure used in this protocol: it gives a psycho-physical release thanks to multifocal vibrations. Results: The effects of GPR on the surface EMG of masseters and anterior temporalis muscles did not induce any statistically significant change, except for masseter muscles (p b 0.05). The results showed a significant improvement in the neuromuscular activity. Muscular activity mainly decreased, while the Freeway Space increased in 53% of cases: this was the evidence of a muscular release after GPR. From a postural point of view, there was an improvement in the load distribution and in the position of the barycenter according to the ideal axis. There were effects in body balance tests, too (p b 0.05). Conclusions: In this preliminary study it was concluded that the GPR induced changes both in neuromuscular and in postural tests. Further and future studies should focus on evaluating the effects on orthodontic and temporomandibular disease patients, as well as the long term effects. doi:10.1016/j.jns.2013.07.1651 Abstract — WCN 2013 No: 2519 Topic: 7 — Neuromuscular disorders Prevalence of neuromuscular disorders in Italian Navy scuba divers: Personalized vs standard mouthpiece WCN 2013 No: 2519 Topic: 7 — Neuromuscular disorders Prevalence of neuromuscular disorders in Italian Navy scuba divers: Personalized vs standard mouthpiece U. Garagiola, G. Ruffino, G. Farronato. Dental and Surgical Biomedical Sciences Department, IRCCS Fondazione Ospedale Maggiore Policlinico, University of Milan, Milan, Italy; COMSUBIN, Italian Navy, La Spezia, Italy Background: Scuba divers deal with an extreme psychophysical effort during their activities showing neuromuscular, postural and craniomandibular disorders. Objective: The aim is to determine the prevalence of temporomandibular disorders and the neuromuscular system variations in scuba divers of the Italian Navy with commercial (CM) and personalized Abstracts / Journal of the Neurological Sciences 333 (2013) e422–e480 e463