Seasonal extreme temperatures and short-term fine particulate matter increases pediatric respiratory healthcare encounters in a sparsely populated region of the intermountain western United States
Western Montana, USA, experiences complex air pollution patterns with predominant exposure sources from summer wildfire smoke and winter wood smoke. In addition, climate change related temperatures events are ... (Source: Environmental Health)
Source: Environmental Health - April 15, 2024 Category: Environmental Health Authors: Erin L. Landguth, Jonathon Knudson, Jon Graham, Ava Orr, Emily A. Coyle, Paul Smith, Erin O. Semmens and Curtis Noonan Tags: Research Source Type: research
RASopathies for Radiologists
Radiographics. 2024 May;44(5):e230153. doi: 10.1148/rg.230153.ABSTRACTRASopathies are a heterogeneous group of genetic syndromes caused by germline mutations in a group of genes that encode components or regulators of the Ras/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include neurofibromatosis type 1, Legius syndrome, Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, central conducting lymphatic anomaly, and capillary malformation-arteriovenous malformation syndrome. These disorders are grouped together as RASopathies based on our current understanding of the Ras/MAPK pathway. A...
Source: Cancer Control - April 11, 2024 Category: Cancer & Oncology Authors: Atsuhiko Handa Yuko Tsujioka Gen Nishimura Taiki Nozaki Tatsuo Kono Masahiro Jinzaki Taylor Harms Susan A Connolly Takashi Shawn Sato Yutaka Sato Source Type: research
Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor
CONCLUSION: This work proves the usefulness of FRET imaging protocols on both live and fixed Teen ERK reporter fish to readily monitor and quantify pharmacologically- and genetically-induced ERK activity modulations in early embryos, representing a useful tool in pre-clinical applications targeting RAS-MAPK signaling.PMID:38594640 | DOI:10.1186/s10020-024-00807-w (Source: Molecular Medicine)
Source: Molecular Medicine - April 9, 2024 Category: Molecular Biology Authors: Giulia Fasano Stefania Petrini Valeria Bonavolont à Graziamaria Paradisi Catia Pedalino Marco Tartaglia Antonella Lauri Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
CONCLUSIONS: Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.PMID:38581124 | PMC:PMC10997847 | DOI:10.1002/mgg3.2428 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2024 Category: Molecular Biology Authors: Edward Debbaut Jean Steyaert Mouna El Bakkali Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
CONCLUSIONS: Our systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated.PMID:38581124 | PMC:PMC10997847 | DOI:10.1002/mgg3.2428 (Source: Molecular Medicine)
Source: Molecular Medicine - April 6, 2024 Category: Molecular Biology Authors: Edward Debbaut Jean Steyaert Mouna El Bakkali Source Type: research
Autism spectrum disorder profiles in RASopathies: A systematic review
ConclusionsOur systematic review found no convincing evidence for a specific ASD profile in RASopathies compared to iASD, or in a specific RASopathy compared to other RASopathies. However, we identified important limitations in the research literature which may also account for this result. These limitations are discussed and recommendations for future research are formulated. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 6, 2024 Category: Genetics & Stem Cells Authors: Edward Debbaut,
Jean Steyaert,
Mouna El Bakkali Tags: REVIEW ARTICLE Source Type: research
Mobilizing community-driven health promotion through community granting programs: a rapid systematic review
Effective health promotion responds to the unique needs of communities. Community granting programs that fund community-driven health promotion initiatives are a potential mechanism to meet those unique needs.... (Source: BMC Public Health)
Source: BMC Public Health - April 1, 2024 Category: Consumer Health News Authors: Emily C. Clark, Shamara Baidoobonso, Karen A. M. Phillips, Laura Lee Noonan, Jiselle Bakker, Trish Burnett, Karlene Stoby and Maureen Dobbins Tags: Systematic Review Source Type: research
Genes, Vol. 15, Pages 445: Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review
Conclusions: Paternally inherited NS/NSML caused by a PTPN11 p.Arg498Trp variant, including our cases, may exhibit relatively lower frequencies of abnormal features and mild symptoms. This could be ascribed to potential gene–gene interactions, gene–environment interactions, the gender and phenotype of the transmitting parent, or ethnic differences that influence the clinical phenotype. (Source: Genes)
Source: Genes - March 31, 2024 Category: Genetics & Stem Cells Authors: Ji Yoon Han Joonhong Park Tags: Communication Source Type: research
IMPROVER (Involving Men with Prostate Cancer in Engaged Research): Assessing Patient Experience With Testing, Diagnosis, And Surveillance
CONCLUSIONS: Greater public awareness and education around prostate cancer, as well as clear and accessible written information for patients at the beginning of their cancer journey is needed. Further research is needed into alternative, less invasive tests, particularly when used repeatedly in the surveillance population.PMID:38537420 | DOI:10.1016/j.clgc.2024.102063 (Source: Clinical Prostate Cancer)
Source: Clinical Prostate Cancer - March 27, 2024 Category: Cancer & Oncology Authors: Marc Walsh Asia Jordan Lea Sch äfer Jana Joha Ben Heapes Megan Noonan William Gallagher Hubert Gallagher Rustom P Manecksha David Galvin Greg Nason Terri Martin Ciara Lyons Robert O'Connor UCD Prostate Patient Advisory Committee Frances J Drummond Claire Source Type: research
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
Discussion: Recurrent and novel RRAS2 variants that we reported showed increased in vitro or in vivo RAS signaling pathway activity because of gain-of-function RRAS2 variants. Clinical features are similar to those previously reported, suggesting that RRAS2 gain-of-function variants cause this disease in patients. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - March 27, 2024 Category: Genetics & Stem Cells Source Type: research
Atomic Scale Structure of Self-assembled Lipidated Peptide Nanomaterials
This article is protected by copyright. All rights reserved.PMID:38489817 | DOI:10.1002/adma.202311103 (Source: Adv Data)
Source: Adv Data - March 15, 2024 Category: Epidemiology Authors: Billy J Williams-Noonan Ketav Kulkarni Nevena Todorova Matteo Franceschi Christopher Wilde Mark P Del Borgo Louise C Serpell Marie-Isabel Aguilar Irene Yarovsky Source Type: research
Microwave Ablation of the Pig Growth Plate: Proof of Concept for Minimally Invasive Epiphysiodesis
CONCLUSION: A microwave antenna placed into a pig's proximal tibia growth plate can slow the growth of the tibia without apparent pain and alteration of gait and function.CLINICAL RELEVANCE: Further investigation and refinement of our animal model is ongoing and includes shorter ablation times and comparison of dynamic ablation (moving the antennae during the ablation) as well as static ablation of the tibia from a medial and lateral portal. These refinements and planned comparison with standard mechanical growth arrest in our pig model may lead to a similar approach to ablate growth plates in children with LLD.PMID:384710...
Source: Clinical Orthopaedics and Related Research - March 12, 2024 Category: Orthopaedics Authors: Samuel O Noonan Kyle J Miller Stephanie Goldstein Ellen Leiferman James White Chris Brace Kenneth J Noonan Source Type: research
Microwave Ablation of the Pig Growth Plate: Proof of Concept for Minimally Invasive Epiphysiodesis
CONCLUSION: A microwave antenna placed into a pig's proximal tibia growth plate can slow the growth of the tibia without apparent pain and alteration of gait and function.CLINICAL RELEVANCE: Further investigation and refinement of our animal model is ongoing and includes shorter ablation times and comparison of dynamic ablation (moving the antennae during the ablation) as well as static ablation of the tibia from a medial and lateral portal. These refinements and planned comparison with standard mechanical growth arrest in our pig model may lead to a similar approach to ablate growth plates in children with LLD.PMID:384710...
Source: Clinical Orthopaedics and Related Research - March 12, 2024 Category: Orthopaedics Authors: Samuel O Noonan Kyle J Miller Stephanie Goldstein Ellen Leiferman James White Chris Brace Kenneth J Noonan Source Type: research
Microwave Ablation of the Pig Growth Plate: Proof of Concept for Minimally Invasive Epiphysiodesis
CONCLUSION: A microwave antenna placed into a pig's proximal tibia growth plate can slow the growth of the tibia without apparent pain and alteration of gait and function.CLINICAL RELEVANCE: Further investigation and refinement of our animal model is ongoing and includes shorter ablation times and comparison of dynamic ablation (moving the antennae during the ablation) as well as static ablation of the tibia from a medial and lateral portal. These refinements and planned comparison with standard mechanical growth arrest in our pig model may lead to a similar approach to ablate growth plates in children with LLD.PMID:384710...
Source: Clinical Orthopaedics and Related Research - March 12, 2024 Category: Orthopaedics Authors: Samuel O Noonan Kyle J Miller Stephanie Goldstein Ellen Leiferman James White Chris Brace Kenneth J Noonan Source Type: research
Genes, Vol. 15, Pages 345: Spectrum of Mutations in PTPN11 in Russian Cohort
Ryzhkova
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene. We analyzed 456 unrelated probands using a gene panel NGS, and in 206 cases, the cause of the disease was identified. Approximately half of the cases (107) were caused by variants in the PTPN11 gene, including three previously undescribed variants, one of which was classified as VOUS, and the other two as LP causative complex alleles....
Source: Genes - March 7, 2024 Category: Genetics & Stem Cells Authors: Anna Orlova Daria Guseva Nina Demina Aleksander Polyakov Oksana Ryzhkova Tags: Article Source Type: research
