A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

The ARCN1 gene encodes the delta subunit of the coatomer protein complex I (COPI), which is essential for mediating protein transport from the Golgi complex to the endoplasmic reticulum. Variants in ARCN1 are associated with clinical features such as microcephaly, microretrognathia, intrauterine growth restriction, short rhizomelic stature, and developmental delays. We present a case of a patient exhibiting intrauterine growth restriction, preterm birth, microcephaly, micrognathia, and central precocious puberty.

Lack of Hierarchical Survival Prognosis in AJCC Staging for Colon and Rectal Cancer-Implications for Future Summary Stage Classification.

Background: Current American Joint Committee on Cancer (AJCC) staging for colorectal cancer utilizes TNM framework groups disease based on extent and provides prognostic information, ideally with a hierarchical logic. We sought to evaluate survival as a function of stage within the 8 edition AJCC staging system for colon and rectal cancer.

Methods: Patients with primary colon or rectal cancer diagnosed 2010-2016 were identified from the National Cancer Database (NCDB).

Pancreaticoduodenectomy in trauma patients with grade IV-V duodenal or pancreatic injuries: a post hoc analysis of an EAST multicenter trial.

Introduction: The utility of pancreaticoduodenectomy (PD) for high-grade traumatic injuries remains unclear and data surrounding its use are limited. We hypothesized that PD does not result in improved outcomes when compared with non-PD surgical management of grade IV-V pancreaticoduodenal injuries.

Methods: This is a retrospective, multicenter analysis from 35 level 1 trauma centers from January 2010 to December 2020.

Self-healing PVA/Chitosan/MXene triple network hydrogel for strain and temperature sensors.

Conductive hydrogels have attracted intensive attention for their promising applications in flexible electronics, sensors, and electronic skins. However, extremely poor adaptability under cold or dry environmental conditions along with inferior repairability seriously hinders the development of hydrogels in wearable electronics. Here, a triple network conductive hydrogel (PBCP-MXene) was prepared by proportionally mixing polyvinyl alcohol (PVA), borax, chitosan (CS), phytic acid (PA), and MXene.

Exploring the optimal threshold of 3D consolidation tumor ratio value segmentation based on artificial intelligence for predicting the invasive degree of T1 lung adenocarcinoma.

Background: The assessment of lung adenocarcinoma significantly depends on the proportion of solid components in lung nodules. Traditional one-dimensional consolidation tumor ratio (1D CTR) based on ideal, uniformly dense solid components lacks precision. There is no consensus on the CT threshold for evaluating invasiveness using the threshold segmentation method.