Natural history and outcome of lymphangioleiomyomatosis in Ireland
Conclusion: The prevalence of LAM is underestimated, and our data reveal a prevalence 17 cases/million women. Menopausal status, lung function at initial presentation and mean VEGF-D are prognostic indicators and require validation in this group. (Source: European Respiratory Journal)
Source: European Respiratory Journal - October 27, 2023 Category: Respiratory Medicine Authors: Lynn, E., O'Brien, H., Sekimoto, Y., Jouida, A., Keane, M., Mccarthy, C. Tags: Rare ILD/DPLD Source Type: research
Identification of a Novel TSC2 c.170G & gt;A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations
CONCLUSION: As novel pathogenic variants of TSC genes are constantly being explored, the identification of TSC variants of unknown significance in combination with absent clinical diagnostic criteria cannot exclude a TSC diagnosis. We support the implementation of clinical judgment in assisting the diagnosis of TSC, as well as the enrollment of patients in clinical trials due to the rarity of the disease.PMID:37877150 | DOI:10.2174/0115748871258042230921052344 (Source: Reviews on Recent Clinical Trials)
Source: Reviews on Recent Clinical Trials - October 25, 2023 Category: Cancer & Oncology Authors: Georgios Papageorgiou Nikolaos Skouteris Christos Valavanis Gabriela-Monica Stanc Efthymia Souka Nikolaos Charalampakis Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Identification of a Novel TSC2 c.170G & gt;A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations
CONCLUSION: As novel pathogenic variants of TSC genes are constantly being explored, the identification of TSC variants of unknown significance in combination with absent clinical diagnostic criteria cannot exclude a TSC diagnosis. We support the implementation of clinical judgment in assisting the diagnosis of TSC, as well as the enrollment of patients in clinical trials due to the rarity of the disease.PMID:37877150 | DOI:10.2174/0115748871258042230921052344 (Source: Reviews on Recent Clinical Trials)
Source: Reviews on Recent Clinical Trials - October 25, 2023 Category: Cancer & Oncology Authors: Georgios Papageorgiou Nikolaos Skouteris Christos Valavanis Gabriela-Monica Stanc Efthymia Souka Nikolaos Charalampakis Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Identification of a Novel TSC2 c.170G & gt;A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations
CONCLUSION: As novel pathogenic variants of TSC genes are constantly being explored, the identification of TSC variants of unknown significance in combination with absent clinical diagnostic criteria cannot exclude a TSC diagnosis. We support the implementation of clinical judgment in assisting the diagnosis of TSC, as well as the enrollment of patients in clinical trials due to the rarity of the disease.PMID:37877150 | DOI:10.2174/0115748871258042230921052344 (Source: Reviews on Recent Clinical Trials)
Source: Reviews on Recent Clinical Trials - October 25, 2023 Category: Cancer & Oncology Authors: Georgios Papageorgiou Nikolaos Skouteris Christos Valavanis Gabriela-Monica Stanc Efthymia Souka Nikolaos Charalampakis Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Is tuberous sclerosis complex-associated autism a preventable and treatable disorder?
CONCLUSIONS: Preventing epilepsy or improving therapy for seizures associated with prompt and tailored treatment strategies for autism in a sensitive developmental time window could have the potential to mitigate autistic symptoms in infants with TSC.PMID:37878130 | DOI:10.1007/s12519-023-00762-2 (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - October 25, 2023 Category: Pediatrics Authors: Paolo Curatolo Mirte Scheper Leonardo Emberti Gialloreti Nicola Specchio Eleonora Aronica Source Type: research
Translatome analysis of tuberous sclerosis complex 1 patient-derived neural progenitor cells reveals rapamycin-dependent and independent alterations
ConclusionsOur work reveals ample mRNA translation alterations in TSC1 patient-derived NPCs that recapitulate mRNA translation in ASD brain samples. Further, suppression of TSC1-associated but rapamycin-insensitive translation and ND phenotypes by RMC-6272 unveils potential implications for more efficient targeting of mTORC1 as a superior treatment strategy for TAND. (Source: Molecular Autism)
Source: Molecular Autism - October 25, 2023 Category: Molecular Biology Source Type: research
Retrospective pharmacogenetic study in a cohort of pediatric tuberous sclerosis complex patients using everolimus
Pharmacogenomics, Ahead of Print. (Source: Future Medicine: Pharmacogenomics)
Source: Future Medicine: Pharmacogenomics - October 23, 2023 Category: Genetics & Stem Cells Authors: Julia Concha Estela Sang üesa Jose Luis Pe ña Mar ía Pilar Ribate Cristina Bel én García Source Type: research
