From microcephaly to megalencephaly: determinants of brain size.

From microcephaly to megalencephaly: determinants of brain size. Dialogues Clin Neurosci. 2018 Dec;20(4):267-282 Authors: Pirozzi F, Nelson B, Mirzaa G Abstract Expansion of the human brain, and specifically the neocortex, is among the most remarkable evolutionary processes that correlates with cognitive, emotional, and social abilities. Cortical expansion is determined through a tightly orchestrated process of neural stem cell proliferation, migration, and ongoing organization, synaptogenesis, and apoptosis. Perturbations of each of these intricate steps can lead to abnormalities of brain size in humans, whether small (microcephaly) or large (megalencephaly). Abnormalities of brain growth can be clinically isolated or occur as part of complex syndromes associated with other neurodevelopmental problems (eg, epilepsy, autism, intellectual disability), brain malformations, and body growth abnormalities. Thorough review of the genetic literature reveals that human microcephaly and megalencephaly are caused by mutations of a rapidly growing number of genes linked within critical cellular pathways that impact early brain development, with important pathomechanistic links to cancer, body growth, and epilepsy. Given the rapid rate of causal gene identification for microcephaly and megalencephaly understanding the roles and interplay of these important signaling pathways is crucial to further unravel the mechanisms underlying brain growth disorders and, more fund...
Source: Dialogues in Clinical Neuroscience - Category: Neuroscience Tags: Dialogues Clin Neurosci Source Type: research

Related Links:

Authors: PMID: 31977403 [PubMed - in process]
Source: The American Journal of Nursing - Category: Nursing Tags: Am J Nurs Source Type: research
ConclusionWe present the first risk score model to predict IGBC. The model estimates the expected risk for the individual patient and may help to optimize treatment strategies.
Source: The American Journal of Surgery - Category: Surgery Source Type: research
Publication date: Available online 25 January 2020Source: Best Practice &Research Clinical RheumatologyAuthor(s): Ay┼če A. KüçükdeveciAbstractThe goals in the management of established rheumatoid arthritis (RA) are to control pain and disease activity, prevent further joint damage, and enhance functioning and quality of life. Despite the fact that aggressive and the early use of biological and nonbiological disease-modifying antirheumatic drugs have been associated with substantial gains in clinical, radiological, and disability outcomes, a considerable proportion of patients still report significant p...
Source: Best Practice and Research Clinical Rheumatology - Category: Rheumatology Source Type: research
Authors: Zhang J, Si J, Gan L, Guo M, Yan J, Chen Y, Wang F, Xie Y, Wang Y, Zhang H Abstract Cervical cancer is the second most common malignant tumour threatening women's health. In recent years, heavy-ion beam therapy is becoming a newly emerging therapeutic mean of cancer; however, radio-resistance and radiation-induced damage constitute the main obstacles for curative treatment of cervical cancer. Therefore, to identify the radiosensitizers is essential. Here, we investigated the effects of Wnt signalling pathway on the response of 12C6+ radiation in HeLa cells. XAV939, an inhibitor of Wnt signalling pathway, w...
Source: Artificial Cells, Nanomedicine and Biotechnology - Category: Biotechnology Tags: Artif Cells Nanomed Biotechnol Source Type: research
Publication date: Available online 24 January 2020Source: Seminars in Ultrasound, CT and MRIAuthor(s): Supreeta Arya, Saugata Sen, Reena Engineer, Avanish Saklani, Tarun PandeyAbstractHigh-resolution phased array external MRI is the first investigation of choice in rectal cancer for local staging, both in the primary and restaging situations. Use of MRI helps differentiate between those with good prognosis, which can be offered upfront surgery and the poor prognostic cases where treatment intensification is needed. MRI identified poor prognostic factors are threatened or involved mesorectal fascia, T3 tumors with> 5mm e...
Source: Seminars in Ultrasound, CT and MRI - Category: Radiology Source Type: research
When Nichelle Obar learned she was pregnant with her second child last year, she never expected that her pregnancy, or her baby, would make history. But when the 40-year-old food-and-beverage coordinator from Hawaii and her fiancé Christopher Constantino went to their 18-week ultrasound, they learned something was wrong. The heart was larger than it should have been, and there was evidence that fluid was starting to build up around the organ as well. Both were signs that the fetus was working extra hard to pump blood to its fast-growing body and that its heart was starting to fail. Obar’s doctor knew what coul...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized medicine Source Type: news
By SAURABH JHA Of my time arguing with doctors, 30 % is spent convincing British doctors that their American counterparts aren’t idiots, 30 % convincing American doctors that British doctors aren’t idiots, and 40 % convincing both that I’m not an idiot. A British doctor once earnestly asked whether American physicians carry credit card reading machines inside their white coats. Myths about the NHS can be equally comical. British doctors don’t prostate every morning in deference to the NHS, like the citizens of Oceania sang to Big Brother in Orwell’s dystopia. Nor, in their daily rounds, do the...
Source: The Health Care Blog - Category: Consumer Health News Authors: Tags: OP-ED Uncategorized AlfieEvans Source Type: blogs
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...
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Publication date: Available online 15 December 2017 Source:Molecular and Cellular Neuroscience Author(s): Shigeki Iwase, Donna M. Martin Epigenetic regulation of gene expression is critical during development of the central nervous system. Pathogenic variants in genes encoding epigenetic factors have been found to cause a wide variety of neurodevelopmental disorders including Autism spectrum disorder, intellectual disability, and epilepsy. Cancers affecting neuronal and glial cells in the brain have also been shown to exhibit somatic mutations in epigenetic regulators, suggesting chromatin-based links between regulated an...
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
Conclusion: In utero exposure to environmental mutagens contributes to somatic and germline mosaicism, permanently affecting both the genetic health of the F1 and the population gene pool. Citation: Meier MJ, O’Brien JM, Beal MA, Allan B, Yauk CL, Marchetti F. 2017. In utero exposure to benzo[a]pyrene increases mutation burden in the soma and sperm of adult mice. Environ Health Perspect 125:82–88; http://dx.doi.org/10.1289/EHP211 *These authors contributed equally to this work. Address correspondence to F. Marchetti, Environmental Health Science and Research Bureau, Health Canada, 50 Colombine Driveway, Ot...
Source: EHP Research - Category: Environmental Health Authors: Tags: Research Articles January 2017 Source Type: research
More News: Autism | Brain | Brain Cancers | Cancer | Cancer & Oncology | Child Development | Children | Disability | Epilepsy | Genetics | Neurology | Neuroscience | Stem Cell Therapy | Stem Cells