[Factors influencing the clinical phenotype of hepatolenticular degeneration].

Hepatolenticular degeneration is an autosomal recessive genetic disease caused by mutations in the ATP7B gene. More than 800 mutations have been identified in the ATP7B gene so far, with significant differences in clinical phenotypes among different mutation sites. Totally different clinical phenotypic mutations can even exist in the same gene. Although copper accumulation due to gene mutation is the basis of the pathogenesis of hepatolenticular degeneration, more and more evidence demonstrates that it is difficult to explain the diversity of clinical manifestations solely from the perspective of gene mutation. Therefore, this article reviews the research progress on the factors influencing genotype, modifier genes, epigenetics, age, gender, diet, and other factors on the phenotype of patients with hepatolenticular degeneration.

[An interpretation of the British Association for the Study of the Liver practice guideline for the evaluation and treatment of hepatolenticular degeneration].

Hepatolenticular degeneration is common among rare diseases. China has a higher incidence rate than Western countries, and it is increasing year by year. The disease is easy to overlook and misdiagnose due to its complexity and non-specific clinical manifestations. Therefore, the British Association for the Study of the Liver has recently issued practice guidelines for the evaluation and treatment of hepatolenticular degeneration in order to aid clinicians in improving the clinical decision-making process regarding diagnosis, treatment, and long-term follow-up management. Herein is a brief introduction and interpretation of the content of the guideline, with aim of facilitating its application in clinical practice.

[Pregnancy management in patients with hepatolenticular degeneration].

Hepatolenticular degeneration (HLD) is an autosomal recessive genetic disease with a wide range of clinical manifestations. Women of childbearing age often present with irregular or even absent menstruation. Getting pregnant can be difficult without systematic treatment, and even if someone does become pregnant, miscarriages are common. This article reviews the use of medication during pregnancy in patients with hepatolenticular degeneration and also discusses the mode of delivery, anesthetic drug selection, and breastfeeding safety.

[Blue light regulates the expression of brain derived neurotrophic factor in the habenula nucleus of depression-like rats induced by light deprivation].

Objective: To investigate the regulatory effect of blue light on the expression of brain derived neurotrophic factor (BDNF) in the habenula nucleus of depression-like rats induced by light deprivation. Methods: male SD rats were exposed to white light (white light control group, 20 rats) and constant darkness (depression model group, 60 rats), respectively. 18 days later rats in depression model group were randomly divided into three groups: depression model group (treated with constant darkness), blue light group (treated with blue light) and red light group (treated with red light). Rats in white light control group were kept in white light. All rats exposed to light were in a standard 12∶12 h Light/Dark condition at 20 lx for 36 days. Sucrose preference test was applied to evaluate depression-like symptoms of rats. The c-fos+cells in the habenula nucleus, intergeniculate leaflet and ventral lateral geniculate nucleus were detected. The phosphoylation of cAMP-response element binding protein (CREB) and the relative BDNF protein level in the habenula nucleus were measured. Results: Sucrose intake per kg body weight increased in rats exposed to blue light and returned to the level of control group (P>0.05). Sucrose intake per kg body weight in red light group and depression model group were lower than control group (P<0.05). More c-fos+cells were detected in the habenula nucleus, intergeniculate leaflet and ventral lateral geniculate nucleus from blue light group than those from depression model group (P<0.05). The relative BDNF protein level and the phosphoylation of CREB in the habenula nucleus from blue light group were higher than those from depression model group (P<0.05). Conclusion: Blue light could relieve depression-like symptoms in light-deprived rats. Exposure to blue light could activate neurons in the habenula nucleus to which intrinsically photosensitive retinal ganglion cells projected. Blue-light-mediated antidepressant effect might involve in the activation of CREB/BDNF signal transduction pathways in the habenula nucleus.

[Advances in the treatment of Wilson Disease].

Wilson Disease is kind of an autosomal recessive genetic disease. Early diagnosis and timely treatment are very important for prognosis. This article reviews the treatment of Wilson Disease, focusing on penicillamine, sodium dimercaptopropane sulfonate, ammonium tetrathiomolybdate and zinc, liver transplantation and gene therapy. At the same time, the problems of medication adherence and follow-up evaluation in patients with Wilson Disease are also discussed.

[Introduction to the APASL clinical guidelines on the management of metabolic-associated fatty liver disease].

Recently, metabolic-associated fatty liver disease has become the world's highest prevalence of chronic liver disease. Moreover, it is closely related to metabolic syndrome and related diseases, bringing a huge disease burden. Previously, the global expert consensus on renaming for non-alcoholic fatty liver disease and the diagnostic criteria for metabolic-associated fatty liver disease has increased the certainty of further clinical research and practice. Presently, the research on metabolic-associated fatty liver disease is progressing rapidly, and the opinions and data based on clinical evidence are constantly updated. Hepatology international has published the "Asian Pacific Association for the Study of liver diseases' clinical guidelines on the management of metabolic-associated fatty liver disease" , which aims to promote clinical practice and improve the efficiency of clinical research. Here, we have translated the published recommendations into Chinese language, hoping to help most health professionals make clinical decisions.