Magnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.

Purpose: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder. This study aimed to present the clinical and magnetic resonance imaging (MRI) features of three patients with PFIC‑3.

Methods: The study included three patients with cholestasis and pathogenic variants in the ABCB4 gene identified by next-generation sequencing of a targeted-gene panel or by whole-exome sequencing.

Biliary sepsis complication with congenital hepatic fibrosis: an unexpected outcome.

Background: CHF (Congenital hepatic fibrosis) is a rare hereditary disease characterized by periportal fibrosis and ductal plate malformation. Little is known about the clinical presentations and outcome in CHF patients with an extraordinary complication with biliary sepsis. Our case described a 23-year-old female diagnosed as CHF combined with biliary sepsis.

Stimulation of Liver Fibrosis by N2 Neutrophils in Wilson's Disease.

Background & Aims: Wilson's disease is an inherited hepatoneurologic disorder caused by mutations in the copper transporter ATP7B. Liver disease from Wilson's disease is one leading cause of cirrhosis in adolescents. Current copper chelators and zinc salt treatments improve hepatic presentations but frequently worsen neurologic symptoms.

PROS1 variant c.1574C>T p.Ala525Val causes portal vein thrombosis with protein S deficiency.

Background: Protein S (PS) is a vitamin K-dependent plasma glycoprotein, and the deficiency of PS increases the risk of venous thromboembolism (VTE). PS deficiency has been found in 1.5-7% of selected groups of thrombophilic patients.

Case series of progressive familial intrahepatic cholestasis type 3: Characterization of variants in in China.

Objective: To improve the accuracy of the diagnosis of familial progressive intrahepatic cholestasis type 3 (PFIC3, https://www.omim.org/entry/602347).

Hepatopulmonary metastases from papillary thyroid microcarcinoma: A case report.

Background: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. Papillary thyroid microcarcinoma (PTMC) accounts for the majority of PTC cases. However, concurrent pulmonary and hepatic metastases of PTMC are rarely seen.

Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.

Background: Alagille syndrome (ALGS) is a rare multisystem disorder caused by mutations in the JAG1 or NOTCH2 gene. However NOTCH2 gene mutations were rarely found in the Alagille patients. Little is known about the clinical and pathological profiles about Alagille patients with NOTCH2 mutation.

Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice.

Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the ε-sarcoglycan (SGCE) coding gene. By generating SGCE-knockout (KO) and human 237 C > T mutation knock-in (KI) mice, we showed here that both KO and KI mice exerted typical movement defects similar to those of MDS patients. SGCE promoted filopodia development in vitro and inhibited excitatory synapse formation both in vivo and in vitro.

Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.

Wilson's disease is an autosomal recessive disease characterized by excess copper accumulated in the liver and brain. It is caused by mutations in the copper transporter gene ATP7B. However, based on the poor understanding of the transcriptional program involved in the pathogenesis of Wilson's disease and the lack of more safe and efficient therapies, the identification of novel pathways and the establishment of complementary model systems of Wilson's disease are urgently needed.

Analysis of the Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

Objective: The spectrum of () variants in hereditary unconjugated hyperbilirubinemia varies markedly between different ethnic populations. This study evaluated the genotypes in hyperbilirubinemia patients from southeastern China.

Methods: We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the gene by direct sequencing.

Oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor of the femur: A case report.

Background: Oncogenic osteomalacia caused by phosphaturic mesenchymal tumors is very difficult to detect. We report a case of tumor-induced osteomalacia caused by a phosphaturic mesenchymal tumor of the left femur in a middle-aged woman after medical imaging and biopsy.

Case Summary: A 57-year-old woman presented with progressive bone pain for five years.

Wnt/β-catenin signaling was activated in supporting cells during exposure of the zebrafish lateral line to cisplatin.

Zebrafish lateral line neuromasts are composed of central hair cells surrounded by supporting cells. Cisplatin is a common anticancer drug, with hair cell disruption being a frequent side effect of this drug. In our study, we observed complete functional hair cell loss after six hours of cisplatin insult in neuromasts, as demonstrated by anti-parvalbumin 3 immunofluorescence staining or YO-PRO1 vital dye staining.

Haptoglobin 2-2 Genotype is Associated with More Advanced Disease in Subjects with Non-Alcoholic Steatohepatitis: A Retrospective Study.

Introduction: Haptoglobin (Hp) genotypes were reported as an independent risk factor for metabolic diseases. This study aimed to investigate the association between Hp gene polymorphism and the severity of nonalcoholic fatty liver disease (NAFLD).

Methods: A total of 441 subjects (NAFLD group, n = 272; healthy control, n = 169) were recruited, and their clinical biochemical parameters were measured in all subjects.

Double-Stranded RNAs High-Efficiently Protect Transgenic Potato from Leptinotarsa decemlineata by Disrupting Juvenile Hormone Biosynthesis.

RNA interference (RNAi) has been developed for plant pest control. In this study, hairpin-type double-stranded RNA (dsRNA) targeting the juvenile hormone (JH) acid methyltransferase ( JHAMT) gene ( dsJHAMT) was introduced in potato plants via Agrobacterium-mediated transformation. The results indicated that the transcriptional RNA of dsJHAMT accumulated in the transgenic plants.

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

Background: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome.

Expression of the Galanthus nivalis agglutinin (GNA) gene in transgenic potato plants confers resistance to aphids.

Aphids, the largest group of sap-sucking pests, cause significant yield losses in agricultural crops worldwide every year. The massive use of pesticides to combat this pest causes severe damage to the environment, putting in risk the human health. In this study, transgenic potato plants expressing Galanthus nivalis agglutinin (GNA) gene were developed using CaMV 35S and ST-LS1 promoters generating six transgenic lines (35S1-35S3 and ST1-ST3 corresponding to the first and second promoter, respectively).

Transgenic potato plants expressing cry3A gene confer resistance to Colorado potato beetle.

The Colorado potato beetle (Leptinotarsa decemlineata Say, CPB) is a fatal pest, which is a quarantine pest in China. The CPB has now invaded the Xinjiang Uygur Autonomous Region and is constantly spreading eastward in China. In this study, we developed transgenic potato plants expressing cry3A gene.

Identification of miR159s and their target genes and expression analysis under drought stress in potato.

The MYB proteins comprise one of the largest families of plant transcription factors (TFs) and many of MYB families, which play essential roles in plant growth, development and respond to environmental stresses, and have yet been identified in plant. Previous research has shown that miR159 family members repressed the conserved plant R2R3 MYB domain TFs in model plants. In the present research, we identified three potato novel miR159 family members named as stu-miR159a, stu-miR159b and stu-miR159c based on bioinformatics analysis.