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10.1186/s13023-018-0860-0 http://scihub22266oqcxt.onion/10.1186/s13023-018-0860-0 C6053704!6053704!30029683     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Orphanet+J+Rare+Dis 2018 ; 13 (ä): ä Nephropedia Template TP {{tp|p=30029683|t=2018. ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison |pdf=|usr=}}{{30029683}} gab.com Text ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=30029683 #FOAvip Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands. Results: Detailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes in ROHHAD probands. Conclusions: ROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS. Electronic supplementary material: The online version of this article (10.1186/s13023-018-0860-0) contains supplementary material, which is available to authorized users. Twit Text FOAVip ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=30029683 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30029683 #FOAvip English Wikipedia <ref>{{Cite pmid|30029683}}</ref> ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison #MMPMID30029683 Barclay SF; Rand CM; Nguyen L; Wilson RJA; Wevrick R; Gibson WT; Bech-Hansen NT; Weese-Mayer DE Orphanet J Rare Dis 2018[]; 13 (ä): ä PMID30029683show ga Background: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands. Results: Detailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes in ROHHAD probands. Conclusions: ROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS. Electronic supplementary material: The online version of this article (10.1186/s13023-018-0860-0) contains supplementary material, which is available to authorized users. äROHHAD and Prader-Willi syndrome (PWS): clinical and genetic compariso(epmc).pdf DeepDyve Pubget Overpricing