Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple Variants.

is one of the major causative genes of congenital hypothyroidism (CH). Still, the mutation spectrum and clinical outcomes of biallelic variants are not fully understood. This study aimed to elucidate the molecular features and long-term clinical manifestations of CH caused by multiple pathogenic variants.

Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities.

Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.

Congenital Hypothyroidism with Thyroid in situ: A Case Report with NKX2-1 and DUOX2 Hypomorphic Variants.

Introduction: NK2 homeobox 1 (NKX2-1) encodes a transcription factor, NKX2-1, that is expressed in the thyroid gland, lung, and brain. Dual oxidase 2 (DUOX2) encodes an enzyme which generates hydrogen peroxide and is involved in the thyroid hormone synthesis. Cases of congenital hypothyroidism (CH) with dyshormonogenesis showing two or more genetic variants are increasingly reported.

Utility of follow-up blood cultures for Gram-negative rod bacteremia in children.

Persistent Gram-negative rod (GNR) bacteremia is uncommon under appropriate antibiotic therapy. A recent study showed that follow-up blood cultures (FUBCs) to confirm clearance 24-48 h after initiation of antibiotics, added little value in the management of GNR bacteremia in adults. However, the utility of FUBC in children is still unknown.

Risk factors of long hospital stay for immunoglobulin A vasculitis: Single-center study.

Background: Immunoglobulin A (IgA) vasculitis is a common, systemic childhood disease that occasionally interferes with oral intake of food and necessitates hospitalization. In Japan, there are no reports on the length of hospitalization or factors related to long-term hospitalization in children with IgA vasculitis. In this study, we investigated the factors related to long-term hospitalization.

Slow Elevation in Protein C Activity without a Mutation in a Neonate with Intracranial Hemorrhage.

Severe protein C (PC) deficiency leads to purpura fulminans and stroke in newborns. However, the clinical impact of plasma PC activity on the development of neonatal cerebral disease remains elusive. We report a case of hemorrhagic stroke associated with neonatal asphyxia and severe PC deficiency.

Upregulated expression of ADAM12 is associated with progression of oral squamous cell carcinoma.

ADAMs are a disintegrin and metalloproteinase family of membrane-associated metalloproteinases characterized by their multidomain structure, and have been reported to be associated with various malignant tumors. The aim of this study was to identify crucial members of the ADAM family in oral squamous cell carcinoma (OSCC), and to reveal their biological function and clinical significance. To clarify whether ADAM family genes are involved in OSCC, changes in the expression profile were investigated by real-time quantitative reverse transcriptase-polymerase chain reaction (qRT-PCR) analysis and immunohistochemical analysis.