Publications by authors named "Liancheng Lan"
Article Synopsis
- Shwachman-Diamond syndrome (SDS) is a rare genetic condition, making diagnosis difficult due to its diverse symptoms; this report discusses a 15-month-old girl diagnosed with SDS who presented with recurrent fever, elevated liver enzymes, and low white blood cell counts.
- Genetic testing revealed two specific mutations linked to SDS, leading to a treatment plan that included medications to improve liver function and manage infections.
- Follow-up care indicated that the girl showed improvement in liver function and experienced fewer infections, highlighting the importance of genetic testing in diagnosing atypical presentations of SDS.
Objective: The aim of the study is to investigate the function and mechanism of Zinc Gluconate (ZG) on intestinal mucosal barrier damage in antibiotics and Lipopolysaccharide (LPS)-induced mice.
Methods: We established a composite mouse model by inducing intestinal mucosal barrier damage using antibiotics and LPS. The animals were divided into five groups: Control (normal and model) and experimental (low, medium, and high-dose ZG treatments).
Background: Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency, and this condition can be fatal during infancy if left untreated. It also may result in long-term complications in affected individuals.
View Article and Find Full Text PDFPurpose: To investigate the intestinal inflammatory response and the abundance of intestinal bacteria in rats with high-fat diet (HFD)-induced nonalcoholic fatty liver disease (NAFLD) and assess the intervention effects of taurine (TAU).
Methods: Forty male Sprague-Dawley rats were randomly divided into five groups: group I, normal diet and normal saline gavage; group II, normal diet and TAU gavage; group III, HFD and normal saline gavage; group IV, HFD and TAU gavage (from the 1st week); group V, HFD and TAU gavage (from the 10th week). At the end of the 16th week, all the animals were sacrificed.
Background: Wilson's disease (WD) is a rare cause of acute liver failure (ALF) and has a high fatality rate. Rapid and accurate diagnosis is important for ALF because of WD (ALF-WD). Our objective was to establish a simple, rapid, and accurate diagnostic test to distinguish ALF-WD from non-WD ALF (NWDALF) in children.
View Article and Find Full Text PDFBackground: The gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation (CDG). CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs.
View Article and Find Full Text PDFArticle Synopsis
- Glycogen storage disease type VI (GSD VI) is a rare inherited condition due to a deficiency of liver phosphorylase, affecting glucose metabolism in the body.
- Two Chinese patients, a boy and a girl, exhibited symptoms like growth retardation and liver issues, which led to a liver biopsy and genetic testing that confirmed their diagnosis of GSD VI.
- The treatment for both patients involved uncooked cornstarch, and genetic analysis revealed two mutations in the PYGL gene, with one being a novel mutation that may contribute to unusual symptoms like elevated lactate levels.