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.

Signal Abnormalities in Noonan Syndrome are Probably Consistent with Focal Areas of Signal Intensity (FASI)
(Source: Klinische Neuroradiologie)
Source: Klinische Neuroradiologie - October 17, 2023 Category: Radiology Source Type: research

Signal Abnormalities in Noonan Syndrome are Probably Consistent with Focal Areas of Signal Intensity (FASI)
(Source: Clinical Neuroradiology)
Source: Clinical Neuroradiology - October 17, 2023 Category: Neurology Source Type: research

Construct validity of the international standards to document remaining autonomic function after spinal cord injury (ISAFSCI) (1st edition)
Spinal Cord, Published online: 09 October 2023; doi:10.1038/s41393-023-00932-zConstruct validity of the international standards to document remaining autonomic function after spinal cord injury (ISAFSCI) (1st edition) (Source: Spinal Cord)
Source: Spinal Cord - October 9, 2023 Category: Research Authors: Dilnur Kurban Ross A. Davidson Karen M. Smith Marie Carlson Jay Joseph Stacy Elliott Vanessa K. Noonan Nader Fallah Andrei V. Krassioukov Source Type: research

Inter-alpha inhibitor proteins attenuate lipopolysaccharide-induced blood-brain barrier disruption in neonatal mice
Exp Neurol. 2023 Oct 6:114563. doi: 10.1016/j.expneurol.2023.114563. Online ahead of print.ABSTRACTThere is a paucity of information regarding efficacious pharmacological neuroprotective strategies to attenuate or reduce brain injury in neonates. Lipopolysaccharide (LPS) disrupts blood-brain barrier (BBB) function in adult rodents and increases inflammation in adults and neonates. Human blood-derived Inter-alpha Inhibitor Proteins (IAIPs) are neuroprotective, improve neonatal survival after LPS, and attenuate LPS-induced disruption of the BBB in adult male mice. We hypothesized that LPS also disrupts the function of the BB...
Source: Experimental Neurology - October 8, 2023 Category: Neurology Authors: Aric F Logsdon Michelle A Erickson Melanie J Herbert Cassidy Noonan Brian D Foresi Joseph Qiu Yow-Pin Lim William A Banks Barbara S Stonestreet Source Type: research

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome
ConclusionThe findings of this study underscore the importance of family history investigation and genetic testing in diagnosing syndromic LVH. By identifying the underlying genetic cause, clinicians can better understand the etiology of RAS-HCM and its association with SCD in young adults. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - October 3, 2023 Category: Genetics & Stem Cells Authors: Jingjing Zheng, Longyun Peng, Ruofei Cheng, Zhiyan Li, Jianjie Xie, Erwen Huang, Jianding Cheng, Qianhao Zhao Tags: ORIGINAL ARTICLE Source Type: research

RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndrome
CONCLUSION: The findings of this study underscore the importance of family history investigation and genetic testing in diagnosing syndromic LVH. By identifying the underlying genetic cause, clinicians can better understand the etiology of RAS-HCM and its association with SCD in young adults.PMID:37787490 | DOI:10.1002/mgg3.2290 (Source: Molecular Medicine)
Source: Molecular Medicine - October 3, 2023 Category: Molecular Biology Authors: Jingjing Zheng Longyun Peng Ruofei Cheng Zhiyan Li Jianjie Xie Erwen Huang Jianding Cheng Qianhao Zhao Source Type: research

17.5 Insights Into the Ras-MAPK Effect on Neurodevelopment: Mapping the Neuropsychiatric and Brain Phenotypes in Children With Noonan Syndrome
Neurofibromatosis type-1 (NF-1) and Noonan syndrome (NS) are genetic syndromes associated with significant risk for ADHD, ASD, and ODD. Both syndromes are caused by loss-of-function mutations (NF-1) or activating (Noonan syndrome) along the Ras mitogen-activated protein kinase (Ras-MAPK) pathway. Despite the abundance of knowledge regarding molecular genetics and cellular biology of the Ras-MAPK pathway, we still need to associate better the Ras-MAPK pathway and the subsequent effects on human neurodevelopment. (Source: Journal of the American Academy of Child and Adolescent Psychiatry)
Source: Journal of the American Academy of Child and Adolescent Psychiatry - October 1, 2023 Category: Psychiatry Authors: Tamar Green Source Type: research

Case report: Noonan syndrome with protein-losing enteropathy
Conclusion: NS accompanied by PLE is not common, but hypoproteinemia attributable to PLE may be more common in patients with NS than previously thought. It remains uncertain whether mutation of the PTPN11 gene is related to PLE, indicating that further research is needed. (Source: Frontiers in Genetics)
Source: Frontiers in Genetics - September 27, 2023 Category: Genetics & Stem Cells Source Type: research

Successful quality improvement project to increase hydroxyurea prescriptions for children with sickle cell anaemia
Hydroxyurea (HU) is an effective but underused disease-modifying therapy for patients with sickle cell anaemia (SCA). EMBRACE SCD, a sickle cell disease treatment demonstration project, aimed to improve access to HU by increasing prescription (Rx) rates by at least 10% from baseline in children with SCA. The Model for Improvement was used as the quality improvement framework. HU Rx was assessed from clinical databases in three paediatric haematology centres. Children aged 9 months–18 years with SCA not on chronic transfusions were eligible for HU treatment. The health belief model was the conceptual framework to disc...
Source: BMJ Quality and Safety - September 19, 2023 Category: General Medicine Authors: Alvarez, O. A., Rodriguez-Cortes, H., Clay, E. L. J., Echenique, S., Kanter, J., Strouse, J. J., Buitrago-Mogollon, T., Courtlandt, C., Noonan, L., Osunkwo, I. Tags: Quality improvement reports Source Type: research

Room to Improve: An Audit of In-Hospital End-of-Life Care for Oncology Patients in a Tertiary Cancer Centre in Ireland During the COVID-19 Pandemic
Omega (Westport). 2023 Sep 5:302228231196620. doi: 10.1177/00302228231196620. Online ahead of print.ABSTRACTThe COVID-19 pandemic compounded isolation for patients through social distancing measures and staff shortages. We were concerned about the impact of COVID-19 on the quality of care provided at end-of-life in 2021 in a national cancer centre, and instigated the first ever review of the care of the dying. Quality of care was assessed retrospectively using a validated instrument developed by the United Kingdom's National Quality Board. Sixty-six patient deaths occurred in our cancer centre in 2021. The 'risk of dying' ...
Source: Omega - September 6, 2023 Category: Palliative Care Authors: Hailey K Carroll Aoife Broderick Orfhlaith McCarthy Richard M Bambury Derek G Power Dearbhaile C Collins Roisin M Connolly Sinead A Noonan Dan Collins Elaine Cunningham Mary Kennedy Kieron O'Driscoll Daniel Nuzum Katie Twomey Aideen O'Riordan Finola O'Sul Source Type: research