Neuromuscular Disorders
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#1Abdallah Fayssoil (University of Paris)H-Index: 12
#2Arnaud LazarusH-Index: 18
Last. David OrlikowskiH-Index: 32
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Abstract null null Duchenne muscular dystrophy (DMD) is an X linked muscular dystrophy in relation with dystrophin deficient. Heart and respiratory function are classically involved and affect long- term prognosis. Significant atrio-ventricular block may occur in some patients. Implantation of traditional pacemaker may be challenging in patients with tracheotomy and on permanent home mechanical ventilation. We report the first case of a successful leadless intra-cardiac trans-catheter pacing sys...
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#1Vanessa Ziccone (UNIME: University of Messina)H-Index: 1
#2Carmelo Rodolico (UNIME: University of Messina)H-Index: 31
Last. Antonio Toscano (UNIME: University of Messina)H-Index: 43
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ABSTRACT null null We describe herein a “triple trouble” case of a patient affected by Facioscapulohumeral Muscular Dystrophy type 1 (FSHD1), with a previous history of poliomyelitis, who later developed Multiple Sclerosis (MS). Association of muscle disorders and MS is uncommon; in fact, there are only three case reports of this unusual co-occurrence. As regard as this combination, some hypotheses have been raised about the role of immunological factors. Genetic basis of FSHD1 is a deletion of ...
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#1Fouzia Ziad (Waikato Hospital)H-Index: 1
#2Thomas Robertson (Royal Brisbane and Women's Hospital)H-Index: 24
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Abstract null null We report the first New Zealand case of Anncaliia algerae myositis in a 55 year old man with a history of psoriatic arthritis, treated with long-term immunosuppressive therapy. He resided in the city of Rotorua, which is famous for geothermal hot springs. A vastus lateralis muscle biopsy was performed to investigate the cause of an unexplained myositis. Light microscopy demonstrated a necrotizing myositis with scattered clusters of ovoid spores within the myocyte cytoplasm res...
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#1Stephani C. Wang (UCI: University of California, Irvine)H-Index: 7
#2Charles D. Smith (UK: University of Kentucky)H-Index: 86
Last. Virginia Kimonis (UCI: University of California, Irvine)H-Index: 55
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Abstract null null VCP associated inclusion body myopathy, Paget's disease of bone, and Frontotemporal Dementia (IBMPFD, VCP disease, or multisystem proteinopathy type 1 (MSP1)) is an autosomal dominant disease caused by missense mutations in the VCP gene, which plays a crucial role in ubiquitin-proteasome dependent degradation of cytosolic proteins. Those diagnosed with the disorder often suffer from cardiovascular complications in the advanced stages. We conducted an observational cross-sectio...
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#1Soumya V. Chandrasekharan (Sree Chitra Thirunal Institute for Medical Sciences and Technology)
#2Soumya Sundaram (Sree Chitra Thirunal Institute for Medical Sciences and Technology)H-Index: 5
Last. Sruthi S Nair (Sree Chitra Thirunal Institute for Medical Sciences and Technology)H-Index: 14
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Abstract null null TRIM 32-related limb girdle muscular dystrophy (LGMD R8/2H) is a rare genetic muscle disease reported in fewer than 100 patients worldwide. Here, we report a male patient with progressive proximo-distal lower limb weakness with onset in the third decade who had mixed myopathic and neurogenic pattern in electrophysiology and muscle biopsy. Clinical exome sequencing revealed a homozygous pathogenic single base pair insertion in exon 2 of the TRIM32 gene confirming the diagnosis ...
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#1Craig Campbell (UWO: University of Western Ontario)H-Index: 23
#2Elaine McColl (Newcastle University)H-Index: 46
Last. Treat-NmdH-Index: 1
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Abstract null null Knowledge of health related quality of life (HRQOL) in the immediate phase following DMD diagnosis has not been well-characterized. It is important to understand HRQOL early in disease for both clinical care and studies of treatment. The relationship between parent-proxy and child self-report HRQOL and their associations with medical, psycho-social and behavioral symptoms deserve study. In this study HRQOL was measured using the PedsQL inventory in parent/caregiver and cortico...
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#1Stojan Peric (University of Belgrade)H-Index: 18
#2Vidosava Rakocevic-Stojanovic (University of Belgrade)H-Index: 15
Last. Giovanni Meola (University of Milan)H-Index: 35
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Abstract null null Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by CCTG repeats expansion in the first intron of the CNBP gene. In this review we focus on the brain involvement in DM2, including its pathogenic mechanisms, microstructural, macrostructural and functional brain changes, as well as the effects of all these impairments on patients’ everyday life. We also try to understand how brain abnormalities in DM2 should be adequately measured and potent...
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#1Reuven Tsabari (HUJI: Hebrew University of Jerusalem)H-Index: 5
#2Elana Simchovitz (HUJI: Hebrew University of Jerusalem)
Last. Talya Dor (HUJI: Hebrew University of Jerusalem)H-Index: 8
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Abstract null null Patients having Duchenne Muscular Dystrophy (DMD) are currently being treated with corticosteroids, which slow down disease progression at the expense of serious adverse effects. Tamoxifen is a pro-drug some of whose metabolites interact with the nuclear estrogen receptor, leading to anti-fibrotic and muscle-protective effects as has been demonstrated in a murine model of DMD. Here we report the results from a monocentric single arm prospective study in 13 ambulant boys aged 6...
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#1Karen Baty (Newcastle University)H-Index: 5
#2Maria Elena Farrugia (Glas.: University of Glasgow)H-Index: 24
Last. Robert W. Taylor (Newcastle University)H-Index: 96
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Abstract null null Pathogenic variants in mitochondrial DNA (mtDNA) are associated with significant clinical heterogeneity with neuromuscular involvement commonly reported. Non-syndromic presentations of mtDNA disease continue to pose a diagnostic challenge and with genomic testing still necessitating a muscle biopsy in many cases. Here we describe an adult patient who presented with progressive ataxia, neuropathy and exercise intolerance in whom the application of numerous Mendelian gene panels...
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#1Antonio Rodrigues Coimbra Neto (State University of Campinas)
#2Samara Camaçari de Carvalho (State University of Campinas)H-Index: 4
Last. Marcondes C. França (State University of Campinas)H-Index: 24
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Abstract null null Dystrophinopathies are a group of X-linked neuromuscular disorders that result from pathogenic variants in the DMD gene. Their pathophysiological substrate is the defective expression of dystrophin in many tissues. While patients from the same pedigree usually present similar dystrophin expression and clinical course, the extent of cardiac and skeletal muscle involvement may not correlate in the same individual. We identified a new splice site variant c.2803+5G>C (NM_004006) C...
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Top fields of study
Pathology
Duchenne muscular dystrophy
Genetics
Diabetes mellitus
Medicine
Biology