36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysis

The MEF2 polypeptide C (MEF2C), a transcription factor, encodes for a protein that plays a key role in myogenesis, craniofacial development, and neurogenesis. In 2010, microarray studies identified a microdeletion of 5q14.3 region (critical region including the MEF2C gene) to be contributing to a phenotype including intellectual disability, epilepsy and other cerebral malformations. Both truncating single nucleotide variations and deletions of this gene demonstrate haploinsuffciency. Clinically, MEF2C-related disorders are characterized by severe intellectual disability with absent speech, autism, limited walking abilities, hypotonia, seizures, and a variety of minor brain anomalies as well as dysmorphic features.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research

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Publication date: Available online 14 December 2019Source: Progress in NeurobiologyAuthor(s): Vijaykumar Yogesh Muley, Carlos Javier López-Victorio, Jorge Tonatiuh Ayala-Sumuano, Adriana González-Gallardo, Leopoldo González-Santos, Carlos Lozano-Flores, Gregory Wray, Maribel Hernández, Alfredo Varela-EchavarríaAbstractThe mammalian and the avian telencephalon are nearly indistinguishable at early embryonic vesicle stages but differ substantially in form and function at their adult stage. We sequenced and analyzed RNA populations present in mouse and chick during the early stages of embryo...
Source: Progress in Neurobiology - Category: Neuroscience Source Type: research
CONCLUSIONS: AI technologies are growing their role in health care; but, up to now, their "real-life" implementation remains limited. However, in the near future, the potential of AI-driven era could change the clinical practice in Urology, improving overall patient outcomes. PMID: 31833725 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
CONCLUSIONS: Our data show high adherence and persistence rates in men on ADT. The overall survival in the super-elderly is not influenced by persistence and/or adherence but rather by co-prescriptions. PMID: 31833723 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
CONCLUSIONS: ORP, ePLND and seminal vesicle invasion are independent predictors of the risk of hospital readmission over the long term at a large single tertiary referral center. When surgery is chosen as a primary treatment of PCA, patients should be informed of the risk of hospital readmission and related risk factors. Assessing seminal vesicle invasion by preoperative clinical staging identifies locally advanced disease, which is associated with an increased risk of hospital readmission. PMID: 31833722 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
Authors: Brassetti A, Anceschi U, Bertolo R, Ferriero M, Tuderti G, Capitanio U, Larcher A, Garisto J, Antonelli A, Mottire A, Minervini A, Dell'oglio P, Veccia A, Amparore D, Flammia RS, Mari A, Porpiglia F, Montorsi F, Kaouk J, Autorino R, Carini M, Gallucci M, Simone G Abstract BACKGROUND: To improve standard reporting of outcomes after partial nephrectomy, different "Trifecta" systems have been conceived. The subjective assessment of the included parameters and the unreliability for off-clamp procedures limited their reproducibility; their role in predicting functional and oncologic outcomes has never...
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
CONCLUSIONS: Long-term treatment with 5- ARIs might reduce the risk of bladder tumour recurrence, extension of lesions and increase the recurrence-free survival rate. A long-term, randomized prospective study could definitively assess the possible role of these drugs. PMID: 31833718 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
CONCLUSIONSĖ Follow-up schedules for stage I seminoma exposes patients to potential risks of radiation- induced tumors, emotional distress and represent a significant burden for the healthcare system. The current series suggests that a better risk adapted patient-tailored follow-up program is needed in order to avoid unnecessary investigations. PMID: 31833335 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
CONCLUSIONS: Three USP steroids resulted significantly altered in our PCa population. These preliminary results, combined with the simplicity and low-cost of the analysis, open to further investigation of the potential role of this restricted USP in PCa diagnosis. PMID: 31833333 [PubMed - as supplied by publisher]
Source: Minerva Urologica e Nefrologica - Category: Urology & Nephrology Tags: Minerva Urol Nefrol Source Type: research
ConclusionsOccult nodal disease was frequently identified in peripheral N1 stations (11-13) in patients with small (≤2 cm) clinical N0 NSCLC. Hilar lymphadenectomy is essential for accurate staging in the management of patients with small clinical N0 NSCLC.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
ConclusionsThis population-based analysis is the largest dataset of primary thoracic STSs to date and suggests significant survival benefit associated with adjuvant RT. The improvement in OS was more notable in patients with high-grade tumors. Randomized prospective studies are warranted to further understand the benefit of RT in this group.
Source: The Annals of Thoracic Surgery - Category: Cardiovascular & Thoracic Surgery Source Type: research
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