Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.

Congenital hypothyroidism (CH) is among the most common endocrine disorders in neonates. Genetic testing is essential for elucidating the underlying etiology, especially in cases of permanent CH. We enrolled 32 patients diagnosed with permanent CH from the Pediatric Endocrinology Clinics at Jeju National University Hospital and Soonchunhyang University Cheonan Hospital.

Prediction of hepatic fibrosis using the aspartate transaminase-to-platelet ratio index in children and adolescents with metabolic dysfunction-associated steatotic liver disease.

Background: Aspartate transaminase-to-platelet ratio index (APRI) is an easy and useful predictor of hepatic fibrosis in patients with chronic hepatic disease, and it significantly correlates with the degree of hepatic fibrosis in adult patients with metabolic dysfunction-associated steatotic liver disease (MASLD). This study aimed to evaluate the use of APRI in assessing the severity of MASLD in children and adolescents.

Methods: Medical records of 115 patients (males: 78; females: 37) with MASLD were retrospectively reviewed.

Use of the Subcutaneous Triptorelin Stimulation Test for Diagnosis of Central Precocious Puberty.

Background: The gold standard gonadotropin-releasing hormone (GnRH) stimulation test uses the response to intravenously injected gonadorelin to diagnose central precocious puberty (CPP). However, gonadorelin is not always readily available.

Objective: This study investigated the diagnostic efficacy of the subcutaneous triptorelin test and the optimal blood sampling time for diagnosis of CPP.

Regulation of RhoA GTPase and various transcription factors in the RhoA pathway.

RhoA GTPase plays a variety of functions in regulation of cytoskeletal proteins, cellular morphology, and migration along with various proliferation and transcriptional activity in cells. RhoA activity is regulated by guanine nucleotide exchange factors (GEFs), GTPase activating proteins (GAPs), and the guanine nucleotide dissociation factor (GDI). The RhoA-RhoGDI complex exists in the cytosol and the active GTP-bound form of RhoA is located to the membrane.

Regulation of RhoA GTPase and novel target proteins for ROCK.

Rho GTPases play significant roles in cellular function and their activity is regulated by guanine nucleotide exchange factors (GEFs) and GTPase activating proteins (GAPs), providing activation and inactivation of these GTPases, respectively. Active GTP-bound form of RhoA activates its effector proteins while the inactive GDP-bound form of RhoA exists in a RhoA-RhoGDI (guanine nucleotide dissociation inhibitor) complex in the cytosol. In particular, IκB kinase γ IKKγ/NF-κB essential modulator (NEMO) plays a role as a GDI displacement factor (GDF) for RhoA activation through binding to RhoA-RhoGDI complex.