Prevalence of bladder cancer in Costello syndrome: new insights to drive clinical decision-making
This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neopla...
Source: Clinical Genetics - January 17, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Filomena Valentina Paradiso Nazario Foschi Marta Tedesco Francesco Pierconti Sara Silvaroli Mario Di Diego Lisa Birritella Francesca Pantaleoni Claudia Rendeli Roberta Onesimo Germana Viscogliosi Pierfrancesco Bassi Lorenzo Nanni Maurizio Gen Source Type: research
Prevalence of bladder cancer in Costello syndrome: new insights to drive clinical decision-making
This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neopla...
Source: Clinical Genetics - January 17, 2022 Category: Genetics & Stem Cells Authors: Chiara Leoni Filomena Valentina Paradiso Nazario Foschi Marta Tedesco Francesco Pierconti Sara Silvaroli Mario Di Diego Lisa Birritella Francesca Pantaleoni Claudia Rendeli Roberta Onesimo Germana Viscogliosi Pierfrancesco Bassi Lorenzo Nanni Maurizio Gen Source Type: research
Social behavior in RASopathies and idiopathic autism
ConclusionsFindings suggest that the development of social behavior among children with RASopathies involves a distinct pattern of strengths and weaknesses as compared to a behaviorally defined disorder (idiopathic ASD). Identification of areas of resilience as well as behavioral and social challenges will support more targeted intervention. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - January 12, 2022 Category: Neurology Source Type: research
Idiopathic polyhydramnios and foetal macrosomia in the absence of maternal diabetes: clinical vigilance for costello syndrome
J Obstet Gynaecol. 2021 Oct 23:1-3. doi: 10.1080/01443615.2021.1959533. Online ahead of print.NO ABSTRACTPMID:34689704 | DOI:10.1080/01443615.2021.1959533 (Source: Journal of Obstetrics and Gynaecology)
Source: Journal of Obstetrics and Gynaecology - October 25, 2021 Category: OBGYN Authors: Liu-Bing Lan Dong-Zhi Li Source Type: research
Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development
CONCLUSION: Majority of individuals with CS have refractive errors, strabismus, nystagmus, absent stereopsis, and optic nerve abnormalities suggesting that HRAS and the Ras pathway play a vital role in visual system development. Ptosis, refractive errors and strabismus are amenable to treatment and early ophthalmic evaluation is crucial to prevent long-term vision impairment and improve overall quality of life in CS.PMID:34612139 | DOI:10.1080/13816810.2021.1978103 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - October 6, 2021 Category: Opthalmology Authors: Suma P Shankar Reshmitha Fallurin Tonya Watson Prabhu R Shankar Terri L Young Deborah Orel-Bixler Katherine A Rauen Source Type: research
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review
In conclusion, Noonan syndrome spectrum disorders, Noonan syndrome in particular, are associated with lymphatic abnormalities. Combining the available published literature about genetically proven Noonan syndrome spectrum disorders, it appears likely that the lifetime prevalence of these abnormalities in Noonan syndrome is higher than the 20% that were generally accepted so far. This is increasingly important, because the activation of the RAS/MAPK pathway can be inhibited by RAS/MAPK inhibitors, and clinically severe lymphatic abnormalities may improve.Mol Syndromol (Source: Molecular Syndromology)
Source: Molecular Syndromology - September 10, 2021 Category: Molecular Biology Source Type: research
Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs
Publication date: Available online 8 July 2021Source: Stem Cell ReportsAuthor(s): Jong Bin Choi, Joonsun Lee, Minyong Kang, Bumsoo Kim, Younghee Ju, Hyo-Sang Do, Han-Wook Yoo, Beom Hee Lee, Yong-Mahn Han (Source: Stem Cell Reports)
Source: Stem Cell Reports - July 9, 2021 Category: Stem Cells Source Type: research
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
ConclusionTo the best of our knowledge, this is the first article to report a patient with a p.G12D variant that had special but mild manifestation. Moreover, this report and literature review casts new light on the clinical features of p.G12D variant. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - May 1, 2021 Category: Genetics & Stem Cells Authors: Wen Qian,
Meijie Zhang,
Hequn Huang,
Yihe Chen,
Gajin Park,
Ni Zeng,
Yueyue Li,
Qian Lu,
Dan Luo Tags: CLINICAL REPORT Source Type: research
Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review
CONCLUSION: To the best of our knowledge, this is the first article to report a patient with a p.G12D variant that had special but mild manifestation. Moreover, this report and literature review casts new light on the clinical features of p.G12D variant.PMID:33932139 | DOI:10.1002/mgg3.1690 (Source: Molecular Medicine)
Source: Molecular Medicine - May 1, 2021 Category: Molecular Biology Authors: Wen Qian Meijie Zhang Hequn Huang Yihe Chen Gajin Park Ni Zeng Yueyue Li Qian Lu Dan Luo Source Type: research
