OBJECTIVE: To report the clinical manifestation and genetic characteristics of a child with Thiamine metabolism dysfunction syndrome 5. METHODS: Clinical data and genetic results were collected and analyzed. Peripheral blood samples of the child and their parents were collected for whole exome sequencing, and the functional effect of the variants on the TPK1 enzyme activity was verified by an in vitro assay. RESULTS: A four-year-old boy presented with preschool onset of ataxia were characterized. High-throughput sequencing identified a novel homozygous variant of TPK1 gene c.382G>A (p.Leu128Phe). His father and mother were both found carrying the variant. The variant protein showed a 30.9% reduction in TPK1 enzyme activity compared with the wildtype. CONCLUSION A novel pathogenic variant has been identified in a boy with thiamine metabolic dysfunction syndrome type 5.
Child, Preschool ; Genetic Testing ; Homozygote ; Humans ; Male ; Mutation ; Thiamine ; Whole Exome Sequencing

A survey of mushrooms was conducted in Xishuangbanna, Yunnan Province, China, in the rainy season (May to October) of 2012, 2013, and 2014, during which 16 specimens of Termitomyces were collected. Preliminary macro- and micro-characteristics, together with ITS sequence data, showed that four of the specimens belonged to a new species (Termitomyces fragilis), while the other 12 belonged to T. aurantiacus, T. eurrhizus, T. globules, T. microcarpus, and T. bulborhizus. In this paper, T. fragilis is introduced as a species new to science based on morphological characterization and phylogenetic analyses. Macro- and micro- morphological descriptions, color photographs and line drawings of the new species, and a phylogenetic tree to show the placement of the new species are provided. T. fragilis is then compared with other closely related taxa in the genus Termitomyces.

Objective: To investigate the seroprevalence and epidemiological characteristics of hepatitis E virus (HEV) infection in pregnant women in Xiamen. Methods: Sera samples of 910 pregnant women were collected from September 2014 to June 2015 in Xiamen Huli District Maternity and Child Care Hospital. Those who intended to give birth in target hospital were included in a subgroup which was asked to collect the second serum sample. All samples were tested for anti-HEV IgM and IgG antibody by enzyme linked immunosorbent assay (ELISA). HEV RNA was tested by reverse transcription-polymerase chain reaction (RT-PCR) for the positive samples of anti-HEV IgM antibody, meanwhile, the quantitative detections for anti-HEV IgG were conducted in specimens positive for anti-HEV IgG. Results: Of the 910 pregnant women, 8 (0.88%, 95%CI 0.45%-1.73%) were anti-HEV IgM positive. HEV RNA was found in 3 cases through RT-PCR and viral load values were between 600 and 700 copies/ml; 140 (15.38%, 95%CI 13.19%-17.68%) were anti-HEV IgG positive and geometric mean concentration of the samples was 0.385 Wu/mL (95%CI 0.332-0.445 Wu/ml). The positive rate of anti-HEV IgG increased with age (P=0.004). In the subgroup, 150 pregnant women were included and followed up, 4 of those were defined as 'new HEV infection cases’ and the incidence was evaluated as 10.7/100 person-year (95%CI 3.39-25.7/100 person-year). Conclusions There were a low percentage of HEV carriers in pregnant women in Xiamen, but the risk of new primary infection in pregnant women during pregnancy was much higher than the general population, suggesting that it is necessary to expand sample size to clarify the burden of HEV infection during pregnancy.

OBJECTIVE：To learn from the experience of foreign listed chimeric antigen receptor T lymphocyte （CAR-T） products in signing risk sharing agreements in medical insurance access ，so as to provide references for relevant decisions of medical insurance departments in China. METHODS ：Taking 9 risk sharing agreements of CAR-T products marketed in the United Kingdom，France，Italy and Germany as samples ，the international experience of medical insurance payment of CAR-T products were analyzed from six dimensions ，such as agreement types ，monitoring indicators ，data collection metho ds，agreement periods ， payment conditions and payment methods. Some suggestions were put forward for the medical insurance access of these products in China. RESULTS & CONCLUSIONS ：Four sample countries generally signed risk sharing agreements of medical insurance access （financial agreement and performance-based agreement ）with pharmaceutical enterprises ；the indicators such as progressive disease and progression-free survival were collected by using data collection system or clinical research data ，so as to monitor the efficacy and safety of CAR-T products. The agreement periods and payment conditions were determined according to different agreement types；“medical insurance advance payment ”or“pharmaceutical enterprise advance payment ”combined with “staged payments ” were adopted for risk control. Solving the risk of medical insurance funds caused by “efficacy uncertainty ”is the core issue of CAR-T product access. The induction of risk sharing agreements may be the way to solve this problem ，and the scientific design of the various elements of risk sharing agreements is a prerequisite to ensure that the agreement is operational.

OBJECTIVETo observe the effects of conventional western medication and joss stick moxibustion combined with pricking and cupping for herpes zoster in acute stage, and to explore its analgesic mechanism.

METHODSSeventy patients with acute herpes zoster were randomized into an observation group (33 cases after 2 dropping) and a control group (34 cases after 1 dropping). Patients in the observation group were treated with joss stick moxibustion combined with pricking and cupping at localpoints for 7 times, once every other day. Oral acyclovir, vitamin Band mecobalamin tablets were applied in the control group for continuous 14 days, and interferon injection was used for continuous 6 days, etc. The herpes evaluation indexes of blister stopping time, scab time and decrustation time as well as pain intensity were observed before and after treatment. Peripheral serum substance P (SP) content of herpes local situation was detected. The comprehensive effects were evaluated.

RESULTSThe blister stopping time, scab time and decrustation time in the observation group were shorter than those in the control group (all<0.05). There was no statistical significance for pain relief degree between the two groups (>0.05). The pain beginning to ease time and duration time in the observation group were better than those in the control group (both<0.05). The contents of SP in the two groups decreased after treatment (both<0.01), and it was better in the observation group (<0.05). The total effective rate of the observation group after treatment was 87.9% (29/33), and that of the control group was 85.3% (29/34), which were not statistically significant (>0.05). The cured rate of the observation group was better than that of the control group [66.7% (22/33) vs 58.8% (20/34),<0.05].

CONCLUSIONJoss stick moxibustion combined with pricking and cupping are effective for herpes zoster, which have quicker and good analgesic effects than conventional western medication. Its mechanism may be related to reducing the content of SP more fast and to a larger degree.