Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulations related to newborn screening for PKU in China and it identifies how China’s newborn screening program has improved as a result of these laws and regulations. Specific measures and regulations, such as those implemented by government, follow-up services, and government coverage of expenses, have been implemented in different areas where they have yielded good results. These measures and regulations may serve as a reference for other areas of China. However, measures and regulations regarding newborn screening in China still face challenges. Prenatal health examinations and national financial support are expected to play a more significant role in

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Acute liver failure (ALF) is defined by the presence of coagulopathy (International Normalized Ratio ≥ 1.5) and hepatic encephalopathy due to severe liver damage in patients without pre-existing liver disease. Although the mortality due to ALF without liver transplantation is over 80%, the survival rates of patients have considerably improved with the advent of liver transplantation, up to 60% to 90% in the last two decades. Recent large studies in Western countries reported 1, 5, and 10-year patient survival rates after liver transplantation for ALF of approximately 80%, 70%, and 65%, respectively. Living donor liver transplantation (LDLT), which has mainly evolved in Asian countries where organ availability from deceased donors is extremely scarce, has also improved the survival rate of ALF patients in these regions. According to recent reports, the overall survival rate of adult ALF patients who underwent LDLT ranges from 60% to 90%. Although there is still controversy regarding the graft type, optimal graft volume, and ethical issues, LDLT has become an established treatment option for ALF in areas where the use of deceased donor organs is severely restricted.

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Idiopathic pulmonary fibrosis (IPF) is a type of intractable and rare disease, and its epidemiology in China is still unclear. The diagnosis and treatment of IPF has received considerable attention and two editions of guidelines on IPF diagnosis and treatment have been published by the Chinese Society of Respiratory Diseases. Treatment of IPF with Traditional Chinese Medicine (TCM) has been widely investigated in China and several types of TCM extracts are reported to be effective in animal models. One effective treatment is lung transplantation; this treatment has been successfully performed in China, yielding satisfactory long-term survival.

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Idiopathic portal hypertension (IPH) comprises disorders developing increased portal pressure in the absence of cirrhosis: the clear mechanisms to explain this disease are still not well recognized. IPH usually suggests a benign prognosis, but sometimes is complicated with severe hemorrhage due to ruptured esophageal varices, or massive splenomegaly. Conventional treatments for those complications for patients with cirrhosis usually works when diverted to patients with IPH, although some of those patients might require liver transplantation if the treatment fails. However, there are few consistent treatment strategies for IPH itself, its complications or the indications for liver transplantation. In this mini review, we summarize the clinical manifestations and several potential theories to explain the etiology, as well as the current treatment options for IPH.

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In vitro expansion and characterization of neural precursor cells from human gut biopsy specimens with or without Hirschsprung's disease using a novel thermoreversible gelation polymer (TGP) is reported aiming at a possible future treatment. Gut biopsy samples were obtained from five patients undergoing gut resection for Hirschsprung's disease (n = 1) or gastrointestinal disorders (n = 4). Cells isolated from the smooth muscle layer and the myenteric plexus were cultured in two groups for 18 to 28 days; Group I: conventional culture as earlier reported and Group II: using TGP scaffold. Neurosphere like bodies (NLBs) were observed in the cultures between 8th to 12th day and H & E staining was positive for neural cells in both groups including aganglionic gut portion from the Hirschsprung's disease patient. Immunohistochemistry using S-100 and neuron specific enolase (NSE) was positive in both groups but the TGP group (Group II) showed more number of cells with intense cytoplasmic granular positivity for both NSE and S-100 compared to Group I. TGP supports the in vitro expansion of human gut derived neuronal cells with seemingly better quality NLBs. Animal Studies can be tried to validate their functional outcome by transplanting the NLBs with TGP scaffolds to see whether this can enhance the outcome of cell based therapies for Hirschsprung's disease.

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Chromosome Xq22.2 contains the entire proteolipid protein 1 gene (PLP1), and a genomic duplication in that chromosome is responsible for Pelizaeus–Merzbacher disease (PMD). Duplication can be detected using several molecular diagnostic methods such as comparative multiplex PCR, fluorescent in situ hybridization (FISH), restriction site polymorphism (RSP) analysis, and multiplex ligation-dependant probe amplification (MLPA). The characteristics of these methods should be taken into account when using them. There is currently no treatment for PMD, so a cure is urgently need. Advances in research on stem cell therapies, and especially induced pluripotent stem cell therapy, offer great promise for development of a treatment for PMD.

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