Noonan Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

BeTTer Outcomes Workgroup Health Quality Initiative to optimize bone health for prostate cancer patients in the British Columbia Cancer System
CONCLUSIONS: Despite the overall heterogenous structure of the groups and metrics used, this study demonstrated that the PDSA framework provides the needed structure for improvements in BTT use in mCRPC across multiple sites.PMID:37882539 | DOI:10.5489/cuaj.8477 (Source: Canadian Urological Association Journal)
Source: Canadian Urological Association Journal - October 26, 2023 Category: Urology & Nephrology Authors: Krista Noonan Jenny J Ko Peter C Black Michael Peacock Daygen Finch Christian Kollmannsberger Ilidio Martins Alan I So Howard H Pai Source Type: research

A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke
ConclusionAlthough the relationship between NF-1 mutation and aortic arch branch abnormalities has not been described, there is a recognized condition known as neurofibromatosis/Noonan syndrome which is an accepted variant of NF-1 with clinical features of both NF-1 and Noonan syndrome caused by dysregulation of the RAS –MAPK pathway. Aortic arch branch variations in patients with NF-1 could be explained by this association. (Source: Surgical and Radiologic Anatomy)
Source: Surgical and Radiologic Anatomy - October 25, 2023 Category: Anatomy Source Type: research

Novel therapeutic perspectives in Noonan syndrome and RASopathies
Conclusion: Drug repositioning of these molecules represents a challenging approach to treat or prevent medical complications associated with RASopathies.What is Known:• Noonan syndrome and related disorders are caused by pathogenic variants in genes encoding components or regulators of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway, resulting in increased activation of this pathway.• This group of disorders is now known as RASopathies and represents one of the largest groups of multiple congenital anomaly diseases known.What is New:• The identification of pathophysiological mechanisms provides ne...
Source: European Journal of Pediatrics - October 21, 2023 Category: Pediatrics Source Type: research

Infusing intellectual and Developmental disability training into Medical School curriculum: a Pilot intervention
CONCLUSIONS: A brief (4 hours total) intervention was associated with modest but significant improved knowledge and attitudes towards PWIDDs. Replication and sustainability of this and other NICHE interventions are needed to fill gaps in PWIDDs' health care.PMID:37859424 | DOI:10.1080/10872981.2023.2271224 (Source: Medical Education Online)
Source: Medical Education Online - October 20, 2023 Category: Universities & Medical Training Authors: Joanne Siegel Kathleen McGrath Elisa Muniz Vincent Siasoco Priya Chandan Emily Noonan Karen Bonuck Source Type: research

Effects of combined exposure to ethanol and delta-9-tetrahydrocannabinol during adolescence on synaptic plasticity in the prefrontal cortex of Long Evans rats
Neuropharmacology. 2023 Oct 18:109765. doi: 10.1016/j.neuropharm.2023.109765. Online ahead of print.ABSTRACTSignificant exposure to alcohol or cannabis during adolescence can induce lasting disruptions of neuronal signaling in brain regions that are later to mature, such as the medial prefrontal cortex (mPFC). Considerably less is known about the effects of alcohol and cannabis co-use, despite its common occurrence. Here, we used male and female Long-Evans rats to investigate the effects of early-life exposure to ethanol, delta-9-tetrahydrocannabinol (THC), or their combination on high frequency stimulation (HFS)-induced p...
Source: Neuropharmacology - October 20, 2023 Category: Drugs & Pharmacology Authors: Linyuan Shi Shuo Kang Chan Young Choi Brynn L Noonan Lauren K Carrica Nu-Chu Liang Joshua M Gulley Source Type: research

Infusing intellectual and Developmental disability training into Medical School curriculum: a Pilot intervention
CONCLUSIONS: A brief (4 hours total) intervention was associated with modest but significant improved knowledge and attitudes towards PWIDDs. Replication and sustainability of this and other NICHE interventions are needed to fill gaps in PWIDDs' health care.PMID:37859424 | PMC:PMC10591531 | DOI:10.1080/10872981.2023.2271224 (Source: Medical Education Online)
Source: Medical Education Online - October 20, 2023 Category: Universities & Medical Training Authors: Joanne Siegel Kathleen McGrath Elisa Muniz Vincent Siasoco Priya Chandan Emily Noonan Karen Bonuck Source Type: research

Clinical Variability in a Noonan Syndrome Family with a Homozygous < em > PTPN11 < /em > Gene Variant in Two Individuals
CONCLUSION: A variant that had been described before in the literature was detected in the PTPN11 gene and this variant was homozygous in two patients. To the best of our knowledge, these are the first homozygous PTPN11 case reports in the literature, coming from two related consanguineous families.PMID:37847107 | DOI:10.4274/jcrpe.galenos.2023.2023-5-16 (Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology)
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - October 17, 2023 Category: Endocrinology Authors: Ruken Y ıldırım Edip Unal Şervan Özalkak Ak çahan Akalın Ay ça Aykut Nevzat Y ılmaz Source Type: research