A rare association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome
Leuk Res Rep. 2023 Dec 1;21:100404. doi: 10.1016/j.lrr.2023.100404. eCollection 2024.ABSTRACTNoonan syndrome is a genetic disorder frequently caused by PTPN11 mutations. Patients with Noonan syndrome are characterized by facial dysmorphism, short stature and congenital heart defects and they have a reported predisposition to malignancies such as leukemia, and solid and central nervous system tumors. Here, we report a case of a 14-year-old boy with Noonan syndrome treated for T-cell acute lymphoblastic leukemia who presented with 2 concomitant abnormalities: cerebral abscess and high grade glioblastoma. This exceptional ass...
Source: Cell Research - December 27, 2023 Category: Cytology Authors: Wiem Boufrikha Rim Rakez Inaam Bizid M Maher Hadhri Manel Njima Sarra Boukhris M Adnene Laatiri 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
Genes, Vol. 15, Pages 32: A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
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Giulio Piluso
Noonan syndrome is an autosomal dominant developmental disorder characterized by peculiar facial dysmorphisms, short stature, congenital heart defects, and hypertrophic cardiomyopathy. In 2001, PTPN11 was identified as the first Noonan syndrome gene and is responsible for the majority of Noonan syndrome cases. Over the years, several other genes involved in Noonan syndrome (KRAS, SOS1, RAF1, MAP2K1, BRAF, NRAS, RIT1, and LZTR1) have been identified, acting at different levels of the RAS-mitogen-activated protein kinase pathway. Recently, SPRED2 was recognized as a novel Noonan syndrome gene with autos...
Source: Genes - December 25, 2023 Category: Genetics & Stem Cells Authors: Maria Elena Onore Martina Caiazza Antonella Farina Gioacchino Scarano Alberto Budillon Rossella Nicoletta Borrelli Giuseppe Limongelli Vincenzo Nigro Giulio Piluso Tags: Case Report Source Type: research
Adult-onset idiopathic peripheral pulmonary artery stenosis
Extract
Peripheral pulmonary artery stenosis (PPS) is defined as the obstruction of the pulmonary artery from the pulmonary artery trunk to the peripheral arteries. PPS is considered a paediatric-onset disease associated with systemic congenital diseases (congenital rubella syndrome, Williams syndrome, Alagille syndrome, Ehlers–Danlos syndrome and Noonan syndrome) [1–4]. Apart from PPS associated with congenital syndromes, adult-onset idiopathic PPS has been reported [5]; however, it is rare and has not been reported in more than 10 cases. Transcatheter pulmonary angioplasty for chronic thromboembolic pulmonary...
Source: European Respiratory Journal - December 21, 2023 Category: Respiratory Medicine Authors: Tamura, Y., Tamura, Y., Shigeta, A., Hosokawa, K., Taniguchi, Y., Inami, T., Adachi, S., Tsujino, I., Nakanishi, N., Sato, K., Sakamoto, J., Tanabe, N., Takama, N., Nakamura, K., Kubota, K., Komura, N., Kato, S., Yamashita, J., Takei, M., Joho, S., Ishii, Tags: Pulmonary vascular disease Original Articles: Pulmonary vascular disease Source Type: research
Implementation of a Scalable Online Weight Management Programme in Clinical Settings: Protocol for the PROPS 2.0 Programme (Partnerships for Reducing Overweight and Obesity with Patient-Centered Strategies 2.0)
Introduction
There is an urgent need for scalable strategies for treating overweight and obesity in clinical settings. PROPS 2.0 (Partnerships for Reducing Overweight and Obesity with Patient-Centered Strategies 2.0) aims to adapt and implement the combined intervention from the PROPS Study at scale, in a diverse cross-section of patients and providers.
Methods and analysis
We are implementing PROPS 2.0 across a variety of clinics at Brigham and Women’s Hospital, targeting enrolment of 5000 patients. Providers can refer patients or patients can self-refer. Eligible patients must be ≥20 years old and have a body m...
Source: BMJ Open - December 21, 2023 Category: General Medicine Authors: Cho, J., Noonan, S. H., Fay, R., Apovian, C. M., McCarthy, A. C., Blood, A. J., Samal, L., Fisher, N., Orav, J. E., Plutzky, J., Block, J. P., Bates, D. W., Rozenblum, R., Tucci, M., McPartlin, M., Gordon, W. J., McManus, K. D., Morrison-Deutsch, C., Scir Tags: Open access, Health services research Source Type: research
SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities
Cell Mol Life Sci. 2023 Dec 12;81(1):5. doi: 10.1007/s00018-023-05052-8.ABSTRACTSHP2 phosphatase promotes full activation of the RTK-dependent Ras/MAPK pathway. Its mutations can drive cancer and RASopathies, a group of neurodevelopmental disorders (NDDs). Here we ask how same residue mutations in SHP2 can lead to both cancer and NDD phenotypes, and whether we can predict what the outcome will be. We collected and analyzed mutation data from the literature and cancer databases and performed molecular dynamics simulations of SHP2 mutants. We show that both cancer and Noonan syndrome (NS, a RASopathy) mutations favor catalys...
Source: Cellular and Molecular Life Sciences : CMLS - December 12, 2023 Category: Cytology Authors: Yonglan Liu Wengang Zhang Hyunbum Jang Ruth Nussinov Source Type: research
