Correction: Examining the impact of COVID-19 on health care utilization among persons with chronic spinal cord injury/dysfunction: a population study
Spinal Cord, Published online: 15 February 2024; doi:10.1038/s41393-024-00957-yCorrection: Examining the impact of COVID-19 on health care utilization among persons with chronic spinal cord injury/dysfunction: a population study (Source: Spinal Cord)
Source: Spinal Cord - February 15, 2024 Category: Research Authors: Arrani Senthinathan Mina Tadrous Swaleh Hussain B. Catharine Craven Susan B. Jaglal Rahim Moineddin John Shepherd Lauren Cadel Vanessa K. Noonan Sandra McKay Karen Tu Sara J. T. Guilcher Source Type: research
Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy
This report outlines diagnosis and treatment of a case of CGCG for which jaw diagnosis became the key to identifying a syndromic disease. (Source: Oral and Maxillofacial Surgery)
Source: Oral and Maxillofacial Surgery - February 13, 2024 Category: ENT & OMF Source Type: research
The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy
This study reinforces previous data on RREB1 haploinsufficiency as the driver of a new Noonan-like RASopathy variant, which includes intellectual disability, delayed motor skills, short stature, short neck, and distinctive facial dysmorphisms as key clinical indicators. These findings shed light on this RREB1-related syndrome and underscore the necessity for further investigation into the functional consequences of RREB1 mutations.PMID:38332451 | DOI:10.1111/cge.14496 (Source: Clinical Genetics)
Source: Clinical Genetics - February 9, 2024 Category: Genetics & Stem Cells Authors: Olga Shatokhina Fatima Bostanova Maria Bulakh Anastasia Beresneva Oxana Ryzhkova Source Type: research
[[Translated articler]]Noonan Syndrome With Multiple Lentigines
Actas Dermosifiliogr. 2024 Feb 5:S0001-7310(24)00076-0. doi: 10.1016/j.ad.2022.05.049. Online ahead of print.NO ABSTRACTPMID:38325537 | DOI:10.1016/j.ad.2022.05.049 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - February 7, 2024 Category: Dermatology Authors: M Martinez-Molina M Fabregat-Pratdepadua I Bielsa Marsol Source Type: research
Perineuronal net deglycosylation associates with tauopathy ‐induced gliosis and neurodegeneration
Brain perineuronal nets (PNNs) are vital for neurocircuit stability and changes in their abundance and composition have been linked to Alzheimer's disease (AD) progression. In this work, we investigated age-associated PNN changes in transgenic mice with tauopathy-related AD neuropathology. 9-month-old PS19 (P301S) mice exhibited changes in PNN chondroitin sulfate-glycosaminoglycan (CS-GAG) composition and abundance, but not the underlying CS proteoglycan (CSPG) core proteins, in association with pTau, gliosis, and neurodegeneration. In contrast, Tau4RTg2652 mice showed stable PNNs despite pTau accumulation, emphasizing the...
Source: Journal of Neurochemistry - February 5, 2024 Category: Neuroscience Authors: Aric F. Logsdon,
Brian Foresi,
Shannon J. Hu,
Emily Quah,
Cristiana J. Meuret,
Jaden P. Le,
Aarun S. Hendrickson,
Ingrid K. Redford,
Asmit Kumar,
Bao Anh Phan,
Tammy P. Doan,
Cassidy Noonan,
Nzinga E. Hendricks,
Jeanna M. Wheeler,
Brian C. K Tags: ORIGINAL ARTICLE Source Type: research
Chronic health conditions and adolescents' social connectedness
This study investigated associations between chronic developmental/behavioral and physical health conditions and social connectedness of adolescents using rich population-based data from a national U.S. birth cohort study. Potentially disabling health conditions were reported by caregivers and categorized by our team as developmental/behavioral or physical. Social connectedness was assessed using a validated scale that measured adolescents' reports of positive social connectedness across relevant contexts (family, friends, school). Of the 3,207 adolescents included, over one third had at least one chronic health condition....
Source: The American Journal of Orthopsychiatry - February 1, 2024 Category: Psychiatry Authors: Christine James Hope Corman Kelly Noonan Nancy E Reichman Manuel E Jimenez Source Type: research
Rare Congenital Dissecting Thoracic Aortic Aneurysm in a Child with Noonan Syndrome: A Case Report
We present a rare case of congenital thoracic aortic aneurysm (TAA) complicated with dissection in a nine-year-old girl with Noonan syndrome and atrial septal defect. She presented with rapid breathing and upper respiratory tract symptoms. Chest X-ray revealed a huge upper mediastinum with cardiomegaly. Echocardiogram showed possible ascending TAA. Computerized tomography angiogram of the aorta revealed huge aortic root-ascending TAA with small aortic dissection. Despite immediate treatment, the patient passed away due to severe airway compromise.PMID:38269208 | PMC:PMC10806284 | DOI:10.5001/omj.2023.66 (Source: Oman Medical Journal)
Source: Oman Medical Journal - January 25, 2024 Category: Middle East Health Authors: Siti Aishah Ahmad Maulana Sharifah Huda Engku Alwi Mohd Shafie Hashim Rabiatul Adawiyah Abdul Rohim Source Type: research
Restraining of glycoprotein VI- and integrin α2β1-dependent thrombus formation by platelet PECAM1
Cell Mol Life Sci. 2024 Jan 18;81(1):44. doi: 10.1007/s00018-023-05058-2.ABSTRACTThe platelet receptors, glycoprotein VI (GPVI) and integrin α2β1 jointly control collagen-dependent thrombus formation via protein tyrosine kinases. It is unresolved to which extent the ITIM (immunoreceptor tyrosine-based inhibitory motif) receptor PECAM1 and its downstream acting protein tyrosine phosphatase PTPN11 interfere in this process. Here, we hypothesized that integrin α2β1 has a co-regulatory role in the PECAM1- and PTPN11-dependent restraint of thrombus formation. We investigated platelet activation under flow on collagens with ...
Source: Cellular and Molecular Life Sciences : CMLS - January 18, 2024 Category: Cytology Authors: Natalie J Jooss Marije G Diender Delia I Fern ández Jingnan Huang Floor C J Heubel-Moenen Arian van der Veer Marijke J E Kuijpers Natalie S Poulter Yvonne M C Henskens Maroeska Te Loo Johan W M Heemskerk Source Type: research
Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review
Childhood systemic lupus erythematosus (cSLE) has been considered as a polygenic autoimmune disease; however, a monogenic lupus-like phenotype is emerging with the recent recognition of several related novel h... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 18, 2024 Category: Rheumatology Authors: Patricia Mor án-Álvarez, Alessandra Gianviti, Francesca Diomedi-Camassei, Monia Ginevrino, Fabrizio de Benedetti and Claudia Bracaglia Tags: Case Report Source Type: research
Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
We present a case of an 11-year-old Korean girl who was initially suspected of having Noonan-like syndrome but was later diagnosed with Floating-Harbor syndrome. The patient exhibited short stature, developmental language delay, dysmorphic facial features, and early puberty. Targeted exome sequencing revealed a heterozygous mutation, c.7303C>T (p.Arg2435Ter), in the SRCAP gene, confirming a diagnosis of Floating-Harbor syndrome. She responded well to human recombinant growth hormone and gonadotropin-releasing hormone (GnRH) agonist, effectively suppressing bone maturation and improving her height SDS from -4.6 to -2.4.P...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - January 17, 2024 Category: Endocrinology Authors: Jooyoung Jeon Eu-Seon Noh Il Tae Hwang Source Type: research
Language profiles in Noonan Syndrome - A multiple case study
This study aims to provide a comprehensive description of the linguistic profiles of children and adolescents with NS, focusing on vocabulary, grammar skills, phonological memory skills, working memory skills, and visuospatial skills. Sixteen participants aged 6-16 took part in the study. The findings reveal substantial variation in the affected linguistic areas, with some participants demonstrated normal findings, while inconsistent and overall weak language skills were observed in a large subgroup of participants.PMID:38226429 | DOI:10.1080/02699206.2023.2298976 (Source: Clinical Linguistics and Phonetics)
Source: Clinical Linguistics and Phonetics - January 16, 2024 Category: Speech-Language Pathology Authors: Magnhild Sel ås Source Type: research
Natural history and outcomes in paediatric RASopathy ‐associated hypertrophic cardiomyopathy
ConclusionsThese findings highlight a distinct category of patients with Noonan-like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy-related HCM. (Source: ESC Heart Failure)
Source: ESC Heart Failure - January 14, 2024 Category: Cardiology Authors: Olga Boleti,
Gabrielle Norrish,
Ella Field,
Kathleen Dady,
Kim Summers,
Gauri Nepali,
Vinay Bhole,
Orhan Uzun,
Amos Wong,
Piers E. F. Daubeney,
Graham Stuart,
Precylia Fernandes,
Karen McLeod,
Maria Ilina,
Muhammad Najih Liaqath Ali,
Tara B Tags: Original Article Source Type: research
Studying missingness in spinal cord injury data: challenges and impact of data imputation
In the last decades, medical research fields studying rare conditions such as spinal cord injury (SCI) have made extensive efforts to collect large-scale data. However, most analysis methods rely on complete d... (Source: BMC Medical Research Methodology)
Source: BMC Medical Research Methodology - January 6, 2024 Category: Research Authors: Lucie Bourguignon, Louis P. Lukas, James D. Guest, Fred H. Geisler, Vanessa Noonan, Armin Curt, Sarah C. Br üningk and Catherine R. Jutzeler Tags: Research Source Type: research
Myocardial hypertrophy with aortic dysplasia: a rare case of Noonan syndrome
Med Ultrason. 2023 Dec 27;25(4):480-481. doi: 10.11152/mu-4312.ABSTRACTPMID:38150689 | DOI:10.11152/mu-4312 (Source: Medical Ultrasonography)
Source: Medical Ultrasonography - December 27, 2023 Category: Radiology Authors: Chongjun Xu Xue Lu Guangming Jin Source Type: research
