Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis
Arch Pediatr. 2022 Dec;29(5S):5S8-5S13. doi: 10.1016/S0929-693X(22)00284-6.ABSTRACTNumerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset i...
Source: Archives de Pediatrie - December 30, 2022 Category: Pediatrics Authors: A de Saint Martin S Napuri S Nguyen Source Type: research
Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis
Arch Pediatr. 2022 Dec;29(5S):5S8-5S13. doi: 10.1016/S0929-693X(22)00284-6.ABSTRACTNumerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset i...
Source: Archives de Pediatrie - December 30, 2022 Category: Pediatrics Authors: A de Saint Martin S Napuri S Nguyen Source Type: research
Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis
Arch Pediatr. 2022 Dec;29(5S):5S8-5S13. doi: 10.1016/S0929-693X(22)00284-6.ABSTRACTNumerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset i...
Source: Archives de Pediatrie - December 30, 2022 Category: Pediatrics Authors: A de Saint Martin S Napuri S Nguyen Source Type: research
Tuberous sclerosis complex and epilepsy in infancy: prevention and early diagnosis
Arch Pediatr. 2022 Dec;29(5S):5S8-5S13. doi: 10.1016/S0929-693X(22)00284-6.ABSTRACTNumerous studies showed that epilepsy represents a high burden in Tuberous Sclerosis Complex (TSC), affecting 63 to 78% of the patients. Epilepsy will be refractory to medication in over 60% of cases in early presentations, and accompanied by intellectual disabilities and/or autism spectrum disorders. The emerging experimental and clinical data suggest that the molecular and cellular changes triggered by seizures, particularly during the first weeks of life, can be limited by early action. Making any effort to avoid or delay epilepsy onset i...
Source: Archives de Pediatrie - December 30, 2022 Category: Pediatrics Authors: A de Saint Martin S Napuri S Nguyen Source Type: research
Plasma exchange are not associated with better outcome in MDA5 Rapidly-Progressive Interstitial Lung disease.
Conclusions: MDA5 RP-ILD is associated with a high one-year mortality rate. The use of PLEX was not associated with a favourable outcome. Further studies are needed to evaluate their efficacy. (Source: European Respiratory Journal)
Source: European Respiratory Journal - December 1, 2022 Category: Respiratory Medicine Authors: Bay, P., Pineton De Chambrun, M., Vicent, R., Mahevas, M., De Prost, N., Roux, A., Zuber, B., Israël-Biet, D., Tazi, A., Baptiste, H., Luc, M., Mekinian, A., Deligny, C., Borie, R., Meurice, J. C., Meyer, A., Priou, P., Savale, L., De Saint Martin Tags: 12.04 - Rare ILD/DPLD Source Type: research
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: report of three families
This article is protected by copyright. All rights reserved.PMID:36371792 | DOI:10.1111/cge.14264 (Source: Clinical Genetics)
Source: Clinical Genetics - November 13, 2022 Category: Genetics & Stem Cells Authors: Aur élie Becker Charlotte Felici La ëtitia Lambert Anne de Saint Martin Marie-Th érèse Abi-Warde Elise Schaefer Christian Zix Mina Zamani Saeid Sadeghian Jawaher Zeighami Tahereh Seifi Reza Azizimalamiri Gholamreza Shariati Hamid Galehdari Mareike Sel Source Type: research
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: report of three families
This article is protected by copyright. All rights reserved.PMID:36371792 | DOI:10.1111/cge.14264 (Source: Clinical Genetics)
Source: Clinical Genetics - November 13, 2022 Category: Genetics & Stem Cells Authors: Aur élie Becker Charlotte Felici La ëtitia Lambert Anne de Saint Martin Marie-Th érèse Abi-Warde Elise Schaefer Christian Zix Mina Zamani Saeid Sadeghian Jawaher Zeighami Tahereh Seifi Reza Azizimalamiri Gholamreza Shariati Hamid Galehdari Mareike Sel Source Type: research
P.07 Characterization of MRI brain abnormalities in X-linked myotubular myopathy
X linked myotubular myopathy (XLMTM) is a rare, typically severe, congenital myopathy that often results in significant weakness from birth, with a need for mechanical ventilation and wheelchair assistance. It is caused by a mutation in the myotubularin (MTM1) gene, whose gene product plays an important role in muscle cell differentiation. In addition to the important role of MTM1 in skeletal muscle, there is emerging evidence that patients with XLMTM can have multisystem abnormalities, including liver concerns and cognitive impairment. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - October 1, 2022 Category: Neurology Authors: L. Vogt, A. Marefi, K. Amburgey, N. Addour, E. Widjaja, C. Poulin, M. Oskoui, H. McMillan, N. Chrestian, C. Saint-Martin, M. Srour, J. Dowling Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
The effects of a 6-month mandatory military police academy training on recruits' physical fitness
CONCLUSIONS: Police recruits that had passed the application fitness standards maintained their HRPF prior to academy, and all their HRPF parameters increased after a 6-month academy training period which was not primarily focused on exercise training. Among all components of HRPF, CRF appears to be the most challenging one to improve among police recruits. Our findings suggest that regular training with minimum physical standards could be potentially beneficial to police officers' health and career longevity.PMID:36093659 | DOI:10.3233/WOR-210031 (Source: Work)
Source: Work - September 12, 2022 Category: Occupational Health Authors: W élere G Barbosa Daniel R Saint Martin Edgard de Melo Keene von Koenig Soares Soares Keila Elizabeth Fontana Fan-Yun Lan Stefanos N Kales Guilherme E Molina Luiz Guilherme G Porto Source Type: research
Forensic cardiac device analysis at the Los Angeles County Department of the Coroner: A 20-year experience
J Forensic Sci. 2022 Jul 26. doi: 10.1111/1556-4029.15107. Online ahead of print.ABSTRACTCardiac implantable electronic devices (CIEDs) store information continuously; however, the log of these devices is rarely analyzed in forensic practice. We retrospectively reviewed all cases referred for CIED interrogation by the Los Angeles County Department of Medical Examiner-Coroner between 2001 and 2020. According to the Department's practice, CIED interrogation may be requested for decedents in which details or cause of death are not clear from autopsy and clinical history. The CIED analysis was considered informative for the co...
Source: Journal of Forensic Sciences - July 27, 2022 Category: Forensic Medicine Authors: Breno Bernardes-Souza Ricardo D Tiecher Duc H Do Pauline Saint-Martin Lakshmanan Sathyavagiswaran Odey C Ukpo Christopher B Rogers Noel G Boyle Source Type: research
