SAT-353 Familial Hyperparathyroidism - Due to a Rare Genetic Mutation

Familial isolated primary hyperparathyroidism due to HRPT2 mutation.

Primary hyperparathyroidism is a common endocrine disorder that is mostly caused by solitary tumors within the parathyroid glands. Characterized by early debut and higher frequency of multiple parathyroid masses, familial forms of primary hyperparathyroidism are caused by the already known mutations of: menin (MEN1 syndrome), RET proto-oncogene (MEN2 syndrome), HRPT2-parafibromin (hyperparathyr...

Insensitivity to pain due to Genetic Mutation

Pain is neuroanatomically, psychologically and neurophysiologically complicated and its first function is protecting all alive creature body. This issue is so questionable and interesting that people who don’t feel pain how face this sensation and what problems threaten them. So many researchers by using 73 references, articles from electronical and library references have done a clinical...

Comment on A. Ghemigian, et al. Familial isolated primary hyperparathyroidism due to HRPT2 mutation.

I would like to comment that parathyroid scanning is performed with a lipophilic cationic complex of Tc, called sestamibi, and not free technetium pertechnetate, as is described in the article. According to the guidelines, dual phase Tc-sestamibi scans are commonly used for preoperative localization of parathyroid adenomas. Hyperactive parathyroid cells have a high concentration of sestamibi an...

Familial Ohtahara syndrome due to a novel ARX gene mutation.

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that ...

Papilloedema due to hyperparathyroidism.