Three novel SLC37A4 variants in glycogen storage disease type 1b and a literature review.

Glycogen storage disease type 1b (GSD1b) is a rare genetic disorder, resulting from mutations in the SLC37A4 gene located on chromosome 11q23.3. Although the SLC37A4 gene has been identified as the pathogenic gene for GSD1b, the complete variant spectrum of this gene remains to be fully elucidated.

Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study.

Background: The clinical characteristics and gene mutation characteristics of children with Dubin-Johnson syndrome (DJS) need in-depth study.

Methods: The clinical and genomic data of neonatal Dubin-Johnson syndrome (NDJS) and 155 cases with idiopathic cholestasis (IC) were analyzed from June 2016 to August 2020 RESULTS: ABCC2 gene variants were identified in eight patients, including one patient with homozygous variants and seven patients with compound heterozygous variants. A total of 13 different ABCC variants were detected in the NDJS patients, including three nonsense variants, six missense variants, three frameshift variants, and a splice site variant.

Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.

Background: Defects in interleukin 10 (IL10) and its receptors are particularly involved in very early onset inflammatory bowel disease (VEOIBD). However, large fragment deletions of IL10 receptor A (IL10RA) are rare.

Methods: VEOIBD patients with confirmed mutations in the IL10RA gene were enrolled from January 1, 2019 to June 30, 2020.

An Efficient Topology Discovery Protocol with Node ID Assignment Based on Layered Model for Underwater Acoustic Networks.

Underwater acoustic networks are widely used in survey missions and environmental monitoring. When an underwater acoustic network (UAN) is deployed in a marine region or two UANs merge, each node hardly knows the entire network and may not have a unique node ID. Therefore, a network topology discovery protocol that can complete node discovery, link discovery, and node ID assignment are necessary and important.

Expression of angiopoietin-like protein 2 in ovarian tissue of rat polycystic ovarian syndrome model and its correlation study.

Background: This study investigated the expression of angiopoietin-like protein 2 (ANGPTL2) in the tissues of rat models of polycystic ovary syndrome (PCOS) and its correlation with PCOS.

Methods: Six-weeks-old female specific pathogen-free rats (n = 60) were divided into blank control, PCOS model, and metformin groups (n = 20/group). After 21 days of metformin intervention, the serum sex hormones, fasting blood glucose, fasting insulin, and insulin resistance (IR) of rats in each group were measured.

Corrigendum: Alterations of Gut Microbiota in Cholestatic Infants and Their Correlation With Hepatic Function.

[This corrects the article DOI: 10.3389/fmicb.2018.

[Value of serum gamma-glutamyl transpeptidase combined with direct bilirubin in the diagnosis of biliary atresia in infants].

Objective: To study the value of serum gamma-glutamyl transpeptidase (GGT) combined with direct bilirubin (DB) in the diagnosis of biliary atresia.

Methods: A total of 667 infants with cholestasis who were hospitalized and treated from July 2010 to December 2018 were enrolled as subjects. According to the results of intraoperative cholangiography and follow-up, they were divided into biliary atresia group with 234 infants and cholestasis group with 433 infants.

Hierarchy Graph Based Barrier Coverage Strategy with a Minimum Number of Sensors for Underwater Sensor Networks.

Underwater sensor networks ( UWSNs ) based barrier coverage is increasingly important for intrusion detection due to the scarcity of underwater sensor resource. To improve UWSNs' detection performance and prolong their lifetime, an efficient barrier coverage strategy is very important. In this paper, a novel concept: hierarchy graph is proposed.

Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report.

Rationale: Cholestasis in pediatric patients has diverse etiologies and can be broadly classified as intrahepatic or extrahepatic. The common causes of extrahepatic cholestasis are bile duct calculus, inflammation, or pancreatitis. Malignant tumor is a rare cause of bile ducts obstruction in adolescent.

Alterations of Gut Microbiota in Cholestatic Infants and Their Correlation With Hepatic Function.

Cholestasis is a major hepatic disease in infants, with increasing morbidity in recent years. Accumulating evidence has revealed that the gut microbiota (GM) is associated with liver diseases, such as non-alcoholic steatohepatitis, cirrhosis, and hepatocellular carcinoma. However, GM alterations in cholestatic infants and the correlation between the GM and hepatic functions remain uninvestigated.

Path Diversity Improved Opportunistic Routing for Underwater Sensor Networks.

The packets carried along a pre-defined route in underwater sensor networks are very vulnerble. Node mobility or intermittent channel availability easily leads to unreachable routing. Opportunistic routing has been proven to be a promising paradigm to design routing protocols for underwater sensor networks.

A Double Rate Localization Algorithm with One Anchor for Multi-Hop Underwater Acoustic Networks.

Localization is a basic issue for underwater acoustic networks (UANs). Currently, most localization algorithms only perform well in one-hop networks or need more anchors which are not suitable for the underwater environment. In this paper, we proposed a double rate localization algorithm with one anchor for multi-hop underwater acoustic networks (DRL).

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Background: Interleukin-10 (IL10) signaling plays an important role in the pathogenesis of very early onset inflammatory bowel disease (VEO-IBD) in children. However, little is known about the role of the IL10 axis in children with VEO-IBD in China.

Methods: The Chinese VEO-IBD Collaboration Group was created to collect clinical and genetic data from patients deficient in IL10 and the IL10 receptor.