Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy
AbstractHypertrophic and dilated cardiomyopathy (HCM, DCM) are leading causes of cardiovascular morbidity and mortality in children. The pseudokinase alpha-protein kinase 3 (ALPK3) plays an essential role in sarcomere organization and cardiomyocyte differentiation.ALPK3 coding mutations are causative of recessively inherited pediatric-onset DCM and HCM with variable expression of facial dysmorphism and skeletal abnormalities and implicated in dominantly inherited adult-onset cardiomyopathy. We now report two variants inALPK3—a coding variant and a novel intronic variant affecting splicing. We demonstrate that compound he...
Source: Journal of Cardiovascular Translational Research - November 16, 2023 Category: Cardiology Source Type: research
Midwifery students' experiences of their clinical internship placement during the COVID-19 pandemic in Ireland: A qualitative descriptive study
CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: Midwifery students identified internship, during the COVID-19 pandemic as challenging and stressful. However, students also portrayed a sense of pride in their achievements. Support structures assisted students to cope during this period which included peer support, protective reflective time (PRT) in the HEI and support from clinical placement coordinators in midwifery (CPC-Midwifery) within clinical placements sites. It is essential that these support structures continue within midwifery educational programmes. Promoting peer support in a more formal support structure may need c...
Source: Midwifery - November 10, 2023 Category: Midwifery Authors: Barbara Lloyd Carmel Bradshaw Jan McCarthy Sylvia Murphy Tighe Maria Noonan Sandra Atkinson Source Type: research
Midwifery students' experiences of their clinical internship placement during the COVID-19 pandemic in Ireland: A qualitative descriptive study
CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: Midwifery students identified internship, during the COVID-19 pandemic as challenging and stressful. However, students also portrayed a sense of pride in their achievements. Support structures assisted students to cope during this period which included peer support, protective reflective time (PRT) in the HEI and support from clinical placement coordinators in midwifery (CPC-Midwifery) within clinical placements sites. It is essential that these support structures continue within midwifery educational programmes. Promoting peer support in a more formal support structure may need c...
Source: Midwifery - November 10, 2023 Category: Midwifery Authors: Barbara Lloyd Carmel Bradshaw Jan McCarthy Sylvia Murphy Tighe Maria Noonan Sandra Atkinson Source Type: research
The RRAS2 pathogenic variant (c.67G > T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
ConclusionsOur investigations suggested that the heterozygous missense ofRRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - November 10, 2023 Category: Genetics & Stem Cells Authors: Lan Zeng,
Jin Wang,
Hui Zhu,
Yu Huang,
Yi Deng,
Ping Wei,
Jing Nie,
Bei Tang,
Ai Chen,
Shuyao Zhu Tags: ORIGINAL ARTICLE Source Type: research
The RRAS2 pathogenic variant (c.67G & gt;T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
CONCLUSIONS: Our investigations suggested that the heterozygous missense of RRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.PMID:37942564 | DOI:10.1002/mgg3.2313 (Source: Molecular Medicine)
Source: Molecular Medicine - November 9, 2023 Category: Molecular Biology Authors: Lan Zeng Jin Wang Hui Zhu Yu Huang Yi Deng Ping Wei Jing Nie Bei Tang Ai Chen Shuyao Zhu Source Type: research
The RRAS2 pathogenic variant (c.67G & gt;T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
CONCLUSIONS: Our investigations suggested that the heterozygous missense of RRAS2 may be a potential causal variant in a rare cause of Noonan syndrome, expanding our understanding of the causally relevant mutations for this disorder.PMID:37942564 | DOI:10.1002/mgg3.2313 (Source: Molecular Medicine)
Source: Molecular Medicine - November 9, 2023 Category: Molecular Biology Authors: Lan Zeng Jin Wang Hui Zhu Yu Huang Yi Deng Ping Wei Jing Nie Bei Tang Ai Chen Shuyao Zhu Source Type: research
Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
We report, herein, four unrelated children carrying three different heterozygous mutations in thePTPN11 gene. Intriguingly, their phenotypic features first led to a clinical suspicion of congenital myasthenic syndrome (CMS), due to exercise-induced fatigability with a variable degree of muscle weakness, and serum proteomic profiling compatible with a NMJ defect. Moreover, muscle fatigue improved after treatment with CMS-specific medication. Although the link betweenPTPN11 gene and neuromuscular transmission is unconfirmed, an increasing number of patients with RASopathies are affected by muscle weakness and fatigability. H...
Source: Journal of Neurology - November 4, 2023 Category: Neurology Source Type: research
54. VMD4Kids: A highly sensitive NGS panel to detect low-level mosaic variants in vascular anomalies and overgrowth disorders
Vascular anomalies and some overgrowth disorders are typically caused by mosaic variants. Due to the frequent selection against these variants in blood, sensitive assays are required to detect them in affected tissues. The Vascular Anomalies and Mosaic Disorders (VMD4Kids) panel was developed using a Twist custom capture design with Unique Molecular Indexes (UMIs) targeting the coding sequence and intron/exon junctions of 218 genes. These genes are associated with capillary/lymphatic/ venous/arteriovenous malformations, lymphedema, vascular tumors, generalized body overgrowth, Noonan syndrome, skin pigmentary mosaicism and...
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Avinash Dharmadhikari, Dejerianne Ostrow, Dennis Maglinte, Moiz Bootwalla, Ankit Sharma, Vandana Mehta, Cindy Fong, Arupa Ganguly, Jaclyn Biegel, Matthew Deardorff Source Type: research
Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
Noonan, Costello and Cardio-facio-cutaneous syndromes belong to a group of disorders named RASopathies due to their common pathogenetic origin that lies on the Ras/MAPK signaling pathway. Genetics has eased, at least in part, the distinction of these entities as they are presented with overlapping clinical features which, sometimes, become more pronounced with age. Distinctive face, cardiac and skeletal defects are among the primary abnormalities seen in these patients. Skeletal dysmorphisms range from mild to severe and may include anterior chest wall anomalies, scoliosis, kyphosis, short stature, hand anomalies, muscle w...
Source: Frontiers in Endocrinology - October 27, 2023 Category: Endocrinology Source Type: research
Differentiating diffuse cystic lung disease and emphysema cases from normal using Artificial Intelligence
Conclusions: The high specificity and AUC scores achieved by the models supports its use case as a decision support tool for radiologists in the analysis of Emphysema and DCLD cases. (Source: European Respiratory Journal)
Source: European Respiratory Journal - October 27, 2023 Category: Respiratory Medicine Authors: Noonan, K., Hearne, R., Gaffney, B., Sheehy, B., Mcveigh, N., Sekimoto, Y., Ataya, A., Gupta, N., Mccormack, F., Borie, R., Bonella, F., Murphy, D., Curran, K., Mccarthy, C. Tags: Imaging Source Type: research
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
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
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
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
