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

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Publication date: 15 February 2021Source: Journal of Hazardous Materials, Volume 404, Part BAuthor(s): Yanhua Liu, Yang Li, Shanshan Dong, Lu Han, Ruixin Guo, Yourong Fu, Shenghu Zhang, Jianqiu Chen
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
Authors: Musio F Abstract INTRODUCTION: Anemia has and will continue to be a central theme in medicine particularly as clinicians are treating a burgeoning population of complex multi-organ system processes. As a result of multiple randomized controlled trials (RCTs), meta-analyses, and societal recommendations overly restrictive paradigms and under-administration of erythropoiesis stimulating agents (ESAs) have likely been followed by clinicians among all specialties. AREAS COVERED: A review of anemia in the context of chronic kidney disease, hematologic malignancies and cancer is presented with focus on the e...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Nina Al-Saadi, Safa Al-Musawi, Yousuf Khan, Daben Dawam
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Authors: Matti B, Zargar-Shoshtari K Abstract Prostate cancer represents a significant health burden worldwide. The cancer incidence had substantially increased since the introduction of prostate specific antigen (PSA) in cancer screening. This had led to considerable debates among health professionals and epidemiologists, since PSA as a screening tool seemed to be far from perfect. In New Zealand, the controversy was quite prominent in the last three decades, with some advocating the benefits of screening, while others concerned regarding the risk of harms. With the absence of an organised screening programme and ...
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J Source Type: research
CONCLUSION: This study found that childhood cancer survivors in New Zealand had a high prevalence of developmental dental abnormalities and it identified potential risk factors related to their cancer treatment. Inequitable access to oral rehabilitation for this patient group argues for a mechanism for consistent improved access to publicly funded dental care across district health boards in New Zealand. PMID: 33032302 [PubMed - in process]
Source: New Zealand Medical Journal - Category: General Medicine Tags: N Z Med J 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
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Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
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Source: EHP Research - Category: Environmental Health Authors: Tags: Research Articles January 2017 Source Type: research
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