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10.1186/s13633-016-0039-1 http://scihub22266oqcxt.onion/10.1186/s13633-016-0039-1 C5114824!5114824!27891155     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Int+J+Pediatr+Endocrinol 2016 ; 2016 (ä): ä Nephropedia Template TP {{tp|p=27891155|t=2016. Rabson Mendenhall Syndrome caused by a novel missense mutation |pdf=|usr=}}{{27891155}} gab.com Text Rabson Mendenhall Syndrome caused by a novel missense mutation JO: Int J Pediatr Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=27891155 #FOAvip Background: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach. Case presentation: An 11 year old boy presented with polyuria and polydipsia. He was noted to have coarse facies, severe acanthosis nigricans, hypertrichosis, retarded growth and developmental delay. Investigations revealed severe hyperglycemia which was poorly responsive to high doses of insulin. A diagnosis of Rabson Mendenhall syndrome was suspected based on his physical characteristics in the presence of insulin resistance. Genetic studies revealed a homozygous missense mutation in the Insulin receptor gene confirming the diagnosis of Rabson Mendenhall syndrome. This is a novel mutation which has not been reported previously. Conclusion: Rabson Mendenhall syndrome should be suspected in a patient with characteristic physical features, severe hyperglycemia and insulin resistance. The genetic studies will not only confirm the diagnosis but also will help in counselling. Wider collaboration is needed to identify definitive treatment options for managing this rare condition. Twit Text FOAVip Rabson Mendenhall Syndrome caused by a novel missense mutation ????Int J Pediatr Endocrinol http://www.kidney.de/pget.php?&tw=1&pmid=27891155 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27891155 #FOAvip English Wikipedia <ref>{{Cite pmid|27891155}}</ref> Rabson Mendenhall Syndrome caused by a novel missense mutation #MMPMID27891155 Sinnarajah K; Dayasiri MBKC; Dissanayake NDW; Kudagammana ST; Jayaweera AHHM Int J Pediatr Endocrinol 2016[]; 2016 (ä): ä PMID27891155show ga Background: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past. The management of this condition is extremely challenging and will need multi-disciplinary approach. Case presentation: An 11 year old boy presented with polyuria and polydipsia. He was noted to have coarse facies, severe acanthosis nigricans, hypertrichosis, retarded growth and developmental delay. Investigations revealed severe hyperglycemia which was poorly responsive to high doses of insulin. A diagnosis of Rabson Mendenhall syndrome was suspected based on his physical characteristics in the presence of insulin resistance. Genetic studies revealed a homozygous missense mutation in the Insulin receptor gene confirming the diagnosis of Rabson Mendenhall syndrome. This is a novel mutation which has not been reported previously. Conclusion: Rabson Mendenhall syndrome should be suspected in a patient with characteristic physical features, severe hyperglycemia and insulin resistance. The genetic studies will not only confirm the diagnosis but also will help in counselling. Wider collaboration is needed to identify definitive treatment options for managing this rare condition. äRabson Mendenhall Syndrome caused by a novel missense mutation (epmc).pdf DeepDyve Pubget Overpricing