Objective To investigate the mutations of the gene in Chinese patients with X linked juvenile retinoschisis (XLRS), and to provide the genetic diagnosis and consultation of heredity for the patients and their families. Methods Genomic DNA was isolated from leukocytes of 29 male patients with XLRS, 38 female carriers and 100 normal controls (the patients and the carriers were from 12 families). All 6 exons of XLRS1 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP) assay. The positions and types of XLRS1 gene mutations were determined by direct sequencing. Results Eleven different XLRS1 mutations were identified in these 12 families, including one frameshift mutation due to base loss of the first exon: c.22delT(L9CfsX20), one nonsense mutation due to base loss of the first exon (Trp163X), one splice donor site mutation(c.52+2 T→C; IVS1+2T to C), and eight missense mutation due to base replacement(Ser73Pro, Arg102Gln, Asp145His, Arg156Gly, Arg200Cys, Arg209His, Arg213Gln, and Cys223Arg). No gene mutation was detected in the control group. Four new mutations included frmaeshift mutation(L9CfsX20) and mutations of Asp145His, Arg156Gly, and Trp163X at the fifth exon. A newly discovered non-disease-related polymorphism (NSP) was the c.576C to T (Pro192Pro) change at the sixth exon. Conclusion Eleven different XLRS1 mutations were detected, which is the cause of XLRS in Chinese people. The detection of gene mutations may provide the guidance of genetic diagnosis and the consultation of family heredity for the patients and their families.

Applying the specialized Master of Public Health (MPH) degree education is one of the most important parts of our nation's medical degree system innovation. It has a positive effect on the development of health care in our country. To ensure the quality of the MPH degree, we should be more careful with course studies, do better in field and social practice, be stricter with degree dissertation rejoining, and supervise and control the process of the training.

Objective To investigate the relationship between transfusion transmitted virus (TTV)infection and neonatal hyperbilirubinemia,the effect of TTV infection on the liver function, and analyse the feature of nucleotide sequences in TTV ORF1.Methods Serum TTV DNA,which were from 58 neonates with high direct bilirubin(DB,including 5 with hepatitis Syndrome),92 ones with high indirect bilirubin(IB),and 85 normal ones,was detected using a nested polymerase chain reaction technique(nPCR),electropherosis and sequence analyse,and serum alanine amniotransferase (ALT)was determined in all neonates.Results In DB neonates,TTV DNA were detected in 7 neo- nates(12.1%,including 3 neonates with hepatitis syndrome);in IB and normal ones,1 neonate had positive TTV DNA(1.1% and 1.25),respectively.Even if there were point mutations in Guangdong's TTV,the homology of Guangdong's TTV(GD1-9)and Japanese TTV(N22)ranged from 87.1%～97.8% at nucleotide level.Conclusion TTV infection may be one of important pathogenesis resulting in neonatal hyperbilirubinemia and liver damage in such patients.Guangdong's and Japanese TTV isolates had the same genotype,some gene mutations maybe increase the pathogenicity in TTV.

AIM: To observe the therapeutic effect of hepatocyte growth promoting factor (PHGF) combined with transmetil in treatment of chronic severe hepatitis (CSF). METHODS: 120 patients were divided randomly into two groups: the combined treatment group and the routine group. All the patients received ordinary therapy, and 62 patients, based on the therapy, received PHGF combined with transmetil in the combined treatment group. RESULTS: Compared with the routine treatment group, the levels of total serum bilirubin and prothrombin time were decreased significantly (P

Objective To analyze the imaging findings of osteosarcomatosis, and to explore the value of imaging in the diagnosis of osteosarcomatosis.Methods Clinical data and imaging findings in 15 cases of osteosarcomatosis were reviewed.All of them had conventional X-ray films, 13 cases had CT scanning, 11 cases had ECT scanning, 5 cases had MR scanning, and 4 cases with DSA.Results Eight primary lesions were located in the distal femur, 5 in the proximal tibia, 1 in humerus, and 1 in clavicle.Secondary lesions were scattered in proximal tibia in 8, distal femur in 6, spine in 6, pelvis in 2, and other sites.The primary lesion showed typical X-ray finding of osteosarcoma, but lesions at other position showed mainly high density of osteogenesis in all 15 cases.In 13 cases, CT played an important role in defining the extent of the tumor and soft tissue masses.CT scanning was sensitive in detecting osteosclerotic lesions in the bone marrow.In 5 cases, MRI was useful in delineating the extent of tumor and soft tissues mass, as well as the extent of tumor in bone marrow.ECT had the capacity of showing the radionuclide concentration of tumor focus in the whole body in a single scan in 11 patients.Conclusion Osteosarcomatosis has multiple lesions all over the body.Imaging modalities including X-ray plain film, CT, MRI, and ECT are all important in finding the lesions and in diagnosing osteosarcomatosis.

In the context of non-alcoholic fatty liver disease (NAFLD), characterized by dysregulated lipid metabolism in hepatocytes, the quest for safe and effective therapeutics targeting lipid metabolism has gained paramount importance. Sanhuang Xiexin Tang (SXT) and Baihu Tang (BHT) have emerged as prominent candidates for treating metabolic disorders. SXT combined with BHT plus Cangzhu (SBC) has been used clinically for Weihuochisheng obese patients. This retrospective analysis focused on assessing the anti-obesity effects of SBC in Weihuochisheng obese patients. We observed significant reductions in body weight and hepatic lipid content among obese patients following SBC treatment. To gain further insights, we investigated the effects and underlying mechanisms of SBC in HFD-fed mice. The results demonstrated that SBC treatment mitigated body weight gain and hepatic lipid accumulation in HFD-fed mice. Pharmacological network analysis suggested that SBC may affect lipid metabolism, mitochondria, inflammation, and apoptosis-a hypothesis supported by the hepatic transcriptomic analysis in HFD-fed mice treated with SBC. Notably, SBC treatment was associated with enhanced hepatic mitochondrial biogenesis and the inhibition of the c-Jun N-terminal kinase (JNK)/nuclear factor-kappa B (NF-κB) and extracellular signal-regulated kinase (ERK)/NF-κB pathways. In conclusion, SBC treatment alleviates NAFLD in both obese patients and mouse models by improving lipid metabolism, potentially through enhancing mitochondrial biogenesis. These effects, in turn, ameliorate inflammation in hepatocytes.
Humans ; Mice ; Animals ; Non-alcoholic Fatty Liver Disease/metabolism* ; NF-kappa B/metabolism* ; Organelle Biogenesis ; Retrospective Studies ; Mice, Inbred C57BL ; Obesity/metabolism* ; Liver ; Inflammation/metabolism* ; Body Weight ; Lipid Metabolism ; Lipids ; Diet, High-Fat/adverse effects*