Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous FKRP variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical exam...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Ikhlass Belhassen Rita Menassa Salma Sakka Laurence Michel-Calemard Nathalie Streichenberger Dorra Ben Ayed Nadia Bouattour Mariem Dammak Chokri Mhiri Source Type: research
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience
Acta Myol. 2023 Dec 31;42(4):118-122. doi: 10.36185/2532-1900-396. eCollection 2023.ABSTRACTDuchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna®) is an oral drug promoting the readthrough of premature stop codons caused by nonsense mutation (nm) in order to produce full-length dystrophin. It was licensed by EMA in 2014 for ambulatory patients with nmDMD aged ≥ 5 years. Our aim is to report data on long-term ataluren use in Italian patients with nm...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Carlotta Spagnoli Rachele Adorisio Luca Bello Adele D'Amico Maria Grazia D'Angelo Marika Pane Martina Penzo Pietro Riguzzi Valeria Sansone Andrea Vianello Carlo Fusco Source Type: research
Long-read sequencing improves diagnostic rate in neuromuscular disorders
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.ABSTRACTMassive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Rafaela Owusu Marco Savarese Source Type: research
Cannabidiol protects C2C12 myotubes against cisplatin-induced atrophy by regulating oxidative stress
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00622.2023. Online ahead of print.ABSTRACTCancer and chemotherapy can both cause cachexia, a complex multi-organ syndrome characterized by body weight loss, due to adipose tissue and skeletal muscle wasting. Changes in body weight and muscle mass are predictive of response to chemotherapy, incidence of treatment-related complications and, ultimately, patient survival, but there are currently still no clear therapeutic strategies to counteract cachexia. Cannabidiol (CBD) is a bioactive phytocannabinoid produced from a plant named Cannabis sativa. In recent years, ...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Olivier Le Bacquer Phelipe Sanchez V éronique Patrac C ésar Rivoirad Nicolas Saroul Christophe Giraudet Ayhan Kocer Stephane Walrand Source Type: research
Cannabidiol protects C2C12 myotubes against cisplatin-induced atrophy by regulating oxidative stress
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00622.2023. Online ahead of print.ABSTRACTCancer and chemotherapy can both cause cachexia, a complex multi-organ syndrome characterized by body weight loss, due to adipose tissue and skeletal muscle wasting. Changes in body weight and muscle mass are predictive of response to chemotherapy, incidence of treatment-related complications and, ultimately, patient survival, but there are currently still no clear therapeutic strategies to counteract cachexia. Cannabidiol (CBD) is a bioactive phytocannabinoid produced from a plant named Cannabis sativa. In recent years, ...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Olivier Le Bacquer Phelipe Sanchez V éronique Patrac C ésar Rivoirad Nicolas Saroul Christophe Giraudet Ayhan Kocer Stephane Walrand Source Type: research
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study
CONCLUSION: This study has proven the safety of Neu REFIX beta-glucan food supplement and its efficacy in improving both plasma biomarkers and functional parameters of muscle in a short duration of 2 months. Further validation by evaluation of muscle function for a longer duration is recommended to confirm the efficacy of Neu-REFIX food supplement as a potential adjuvant DMT in muscular dystrophies.PMID:38406382 | PMC:PMC10883324 | DOI:10.36185/2532-1900-312 (Source: Acta Myologica)
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Kadalraja Raghavan Thanasekar Sivakumar Koji Ichiyama Naoki Yamamoto Mangaleswaran Balamurugan Vidyasagar Devaprasad Dedeepiya Rajappa Senthilkumar Senthilkumar Preethy Samuel Jk Abraham Source Type: research
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous FKRP variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical exam...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Ikhlass Belhassen Rita Menassa Salma Sakka Laurence Michel-Calemard Nathalie Streichenberger Dorra Ben Ayed Nadia Bouattour Mariem Dammak Chokri Mhiri Source Type: research
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience
Acta Myol. 2023 Dec 31;42(4):118-122. doi: 10.36185/2532-1900-396. eCollection 2023.ABSTRACTDuchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna®) is an oral drug promoting the readthrough of premature stop codons caused by nonsense mutation (nm) in order to produce full-length dystrophin. It was licensed by EMA in 2014 for ambulatory patients with nmDMD aged ≥ 5 years. Our aim is to report data on long-term ataluren use in Italian patients with nm...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Carlotta Spagnoli Rachele Adorisio Luca Bello Adele D'Amico Maria Grazia D'Angelo Marika Pane Martina Penzo Pietro Riguzzi Valeria Sansone Andrea Vianello Carlo Fusco Source Type: research
Long-read sequencing improves diagnostic rate in neuromuscular disorders
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.ABSTRACTMassive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Rafaela Owusu Marco Savarese Source Type: research
Cannabidiol protects C2C12 myotubes against cisplatin-induced atrophy by regulating oxidative stress
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00622.2023. Online ahead of print.ABSTRACTCancer and chemotherapy can both cause cachexia, a complex multi-organ syndrome characterized by body weight loss, due to adipose tissue and skeletal muscle wasting. Changes in body weight and muscle mass are predictive of response to chemotherapy, incidence of treatment-related complications and, ultimately, patient survival, but there are currently still no clear therapeutic strategies to counteract cachexia. Cannabidiol (CBD) is a bioactive phytocannabinoid produced from a plant named Cannabis sativa. In recent years, ...
Source: Am J Physiol Cell Ph... - February 26, 2024 Category: Cytology Authors: Olivier Le Bacquer Phelipe Sanchez V éronique Patrac C ésar Rivoirad Nicolas Saroul Christophe Giraudet Ayhan Kocer Stephane Walrand Source Type: research
Cannabidiol protects C2C12 myotubes against cisplatin-induced atrophy by regulating oxidative stress
Am J Physiol Cell Physiol. 2024 Feb 26. doi: 10.1152/ajpcell.00622.2023. Online ahead of print.ABSTRACTCancer and chemotherapy can both cause cachexia, a complex multi-organ syndrome characterized by body weight loss, due to adipose tissue and skeletal muscle wasting. Changes in body weight and muscle mass are predictive of response to chemotherapy, incidence of treatment-related complications and, ultimately, patient survival, but there are currently still no clear therapeutic strategies to counteract cachexia. Cannabidiol (CBD) is a bioactive phytocannabinoid produced from a plant named Cannabis sativa. In recent years, ...
Source: American Journal of Physiology. Cell Physiology - February 26, 2024 Category: Cytology Authors: Olivier Le Bacquer Phelipe Sanchez V éronique Patrac C ésar Rivoirad Nicolas Saroul Christophe Giraudet Ayhan Kocer Stephane Walrand Source Type: research
Efficacy of N-163 beta-glucan in beneficially improving biomarkers of relevance to muscle function in patients with muscular dystrophies in a pilot clinical study
CONCLUSION: This study has proven the safety of Neu REFIX beta-glucan food supplement and its efficacy in improving both plasma biomarkers and functional parameters of muscle in a short duration of 2 months. Further validation by evaluation of muscle function for a longer duration is recommended to confirm the efficacy of Neu-REFIX food supplement as a potential adjuvant DMT in muscular dystrophies.PMID:38406382 | PMC:PMC10883324 | DOI:10.36185/2532-1900-312 (Source: Acta Myologica)
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Kadalraja Raghavan Thanasekar Sivakumar Koji Ichiyama Naoki Yamamoto Mangaleswaran Balamurugan Vidyasagar Devaprasad Dedeepiya Rajappa Senthilkumar Senthilkumar Preethy Samuel Jk Abraham Source Type: research
Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation
This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous FKRP variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical exam...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Ikhlass Belhassen Rita Menassa Salma Sakka Laurence Michel-Calemard Nathalie Streichenberger Dorra Ben Ayed Nadia Bouattour Mariem Dammak Chokri Mhiri Source Type: research
Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience
Acta Myol. 2023 Dec 31;42(4):118-122. doi: 10.36185/2532-1900-396. eCollection 2023.ABSTRACTDuchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna®) is an oral drug promoting the readthrough of premature stop codons caused by nonsense mutation (nm) in order to produce full-length dystrophin. It was licensed by EMA in 2014 for ambulatory patients with nmDMD aged ≥ 5 years. Our aim is to report data on long-term ataluren use in Italian patients with nm...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Carlotta Spagnoli Rachele Adorisio Luca Bello Adele D'Amico Maria Grazia D'Angelo Marika Pane Martina Penzo Pietro Riguzzi Valeria Sansone Andrea Vianello Carlo Fusco Source Type: research
Long-read sequencing improves diagnostic rate in neuromuscular disorders
Acta Myol. 2023 Dec 20;42(4):123-128. doi: 10.36185/2532-1900-394. eCollection 2023.ABSTRACTMassive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been...
Source: Acta Myologica - February 26, 2024 Category: Neurology Authors: Rafaela Owusu Marco Savarese Source Type: research
