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10.1016/j.braindev.2018.10.012 http://scihub22266oqcxt.onion/10.1016/j.braindev.2018.10.012 30414707!ä!30414707 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Brain+Dev 2019 ; 41 (4): 378-381 Nephropedia Template TP {{tp|p=30414707|t=2019. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome |pdf=|usr=}}{{30414707}} gab.com Text An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome JO: Brain Dev http://www.kidney.de/pget.php?&tw=1&pmid=30414707 #FOAvip BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. CASE REPORT: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy. After a 45-min long, generalized seizure, the magnetic resonance imaging revealed that the restricted diffusion signals spread to the bilateral subcortical white matters on day 1 of illness. Despite the 14?days of intensive care, the acute symptoms of encephalopathy left him intractable epilepsy and severe neurocognitive impairments. The whole-exome sequencing analysis identified a de novo heterozygous mutation of BRAF (NM_004333:p.Thr241Met) in this case. CONCLUSION: The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood. Twit Text FOAVip An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome ????Brain Dev http://www.kidney.de/pget.php?&tw=1&pmid=30414707 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30414707 #FOAvip English Wikipedia <ref>{{Cite pmid|30414707}}</ref> An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome #MMPMID30414707 Okuzono S; Fukai R; Noda M; Miyake N; Lee S; Kaku N; Sanefuji M; Akamine S; Kanno S; Ishizaki Y; Torisu H; Kira R; Matsumoto N; Sakai Y; Ohga S Brain Dev 2019[Apr]; 41 (4): 378-381 PMID30414707show ga BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. CASE REPORT: A 3-year-old boy with dysmorphic features and mild psychomotor delay developed acute encephalopathy. After a 45-min long, generalized seizure, the magnetic resonance imaging revealed that the restricted diffusion signals spread to the bilateral subcortical white matters on day 1 of illness. Despite the 14?days of intensive care, the acute symptoms of encephalopathy left him intractable epilepsy and severe neurocognitive impairments. The whole-exome sequencing analysis identified a de novo heterozygous mutation of BRAF (NM_004333:p.Thr241Met) in this case. CONCLUSION: The present case suggests that the hyperactive condition of ERK signals might augment the development of acute encephalopathy and post-encephalopathic epilepsy in childhood. |Abnormalities, Multiple/genetics[MESH] |Brain Diseases/complications/*etiology/genetics[MESH] |Child[MESH] |Drug Resistant Epilepsy/complications[MESH] |Ectodermal Dysplasia/complications/*physiopathology[MESH] |Facies[MESH] |Failure to Thrive/complications/*physiopathology[MESH] |Heart Defects, Congenital/complications/*physiopathology[MESH] |Humans[MESH] |Magnetic Resonance Imaging/methods[MESH] |Male[MESH] |Mutation[MESH]An acute encephalopathy with reduced diffusion in BRAF-associated car(epmc).pdf DeepDyve Pubget Overpricing