Urinary AD7c-NTP Evaluates Cognition Impairment and Differentially Diagnoses AD and MCI.

The AD7c-NTP is a promising biomarker for AD diagnosis. However, the exact urinary AD7c-NTP concentration to differentiate AD from the mild cognitive impairment (MCI) remains inconclusive. We enrolled 98 and 90 clinical defined AD and MCI patients, respectively, and access their cognition impairment with Neuropsychiatric Inventory (NPI) and Mental State Examination (MMSE) along with their urinary AD7c-NTP.

Aberrant hepatic microRNA expression in nonalcoholic fatty liver disease.

Background/aim: Emerging evidence suggests that microRNA (miRNA) mediated gene regulation influences the maintenance of metabolic homeostasis, particularly the states of obesity and insulin resistance, thereby providing a potential link between miRNAs and nonalcoholic fatty liver disease (NAFLD).

Methods: Sprague-Dawley rats fed a high-fat diet (HFD) were used to establish a rat model of NAFLD. The miRNA expression profile of liver tissues was evaluated using Illumina HiSeq deep sequencing.

Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family.

Objective: X-linked adrenal hypoplasia congenital (AHC) is a rare disorder caused by mutations in DAX1 gene. We report a case of X-linked AHC in a large family to analyze the pathogenesis of this rare disease and to add to our clinical knowledge of it.

Methods: We describe 3-year-old boy's clinical features and laboratory test results, as well as the patient's nuclear family members' clinical symptoms, especially those with features of adrenal insufficiency.