Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level.

Hepatocyte nuclear factor 1α (HNF1α) is a transcription factor that is crucial for the regulation to maintain the function of pancreatic ß-cell, hepatic lipid metabolism, and other processes. Mature-onset diabetes of the young type 3 is a monogenic form of diabetes caused by HNF1α mutations. Although several mutation sites have been reported, the specific mechanisms remain unclear, such hot-spot mutation as the P291fsinsC mutation and the P112L mutation and so on. In preliminary studies, we discovered one MODY3 patient carrying a mutation at the c.493T>C locus of the HNF1α gene. In this study, we analyzed the pathogenic of the mutation sites by using the Mutation Surveyor software and constructed the eukaryotic expression plasmids of the wild-type and mutant type of HNF1α to detect variations in the expression levels and stability of HNF1α protein by using Western blot. The analyses of the Mutation Surveyor software showed that the c.493T>C site mutation may be pathogenic gene and the results of Western blot showed that both the amount and stability of HNF1α protein expressed by the mutation type plasmid were reduced significantly compared to those by the wild type plasmid (P<0.05). This study suggests that the c.493T>C (p.Trp165Arg) mutation dramatically impacts HNF1α expression, which might be responsible for the development of the disease and offers fresh perspectives for the following in-depth exploration of MODY3's molecular pathogenic process.

[Food source and feeding habit of Helice tientsinensis from the common reed vegetation in high marsh of Yellow River Delta, China]. / 黄河三角洲高潮滩芦苇植被区天津厚蟹的食源食性.

Investigating the composition of food sources with stable isotope method can provide direct evidence for the top-down control in the coastal wetland. In this study, we examined food source and feeding habit of Helice tientsinensis of common reed (Phragmites australis) vegetation in high marsh of Yellow River Delta. The results showed that the density of crab was (5.5±1.5) ind·m-2, with the behavior of climbing P. australis to feed on the leaves at night. Under the same indoor experimental condition, H. tientsinensis showed feeding preference on fresh leaves of P. aus-tralis. The stable isotope food source analysis showed that the leaves of P. australis were one of the important food sources of H. tientsinensis in the field. There were temporal variations in the proportion of fresh leaves [May: (6.4±4.9)%, July: (5.8±4.9)%, September: (12.5±8.8)%] and dead leaves [May: (12.4±7.8)%, July: (15.5±9.9)%, September: (15.1±9.4)%]. Therefore, H. tientsinensis could inhibit P. australis's growth and affect litter decomposition through feeding disturbance behavior.

Reliability and validity of self-rated Family Burden Scale in families of the patients with anorexia nervosa / 上海交通大学学报（医学版）

Objective • To explore the reliability and validity of self-rated Family Burden Scale (FBS) evaluating caregiver burden in families of the patients with anorexia nervosa (AN). Methods • The study included female AN patients (n=103) treated in the Eating Disorder Center of Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine from Jul. 2017 to Jul. 2019 and their caregivers (parents, n=148). General demographic information of the patients and their caregivers, the course of illness and body mass index (BMI) of patients, and the time each caregiver spent in caring for the patient per day were recorded. FBS, Beck Depression Inventory (BDI), Beck Anxiety Inventory (BAI), and the MOS item short form health survey (SF-36) were self-rated by the caregivers. One-third of the caregivers were selected by random number method for FBS rating by specialists. The reliability of the scale was evaluated by calculating Cronbach's α coefficient, self-rating and other-rating consistency and the consistency between husband and wife (41 couples). The validity of the scale was evaluated by calculating the correlation of FBS score with the course of disease, patients' BMI, the time spent in caring per day, scores of BAI and BDI, and vitality, social function, role-emotion and mental health domain of SF-36. Results • The Cronbach's α coefficient of FBS was 0.921, the correlation coefficient between self-rating and other-rating by specialists was 0.705 (P=0.000), and the correlation coefficient of consistency score between couples was 0.547 (P=0.000). FBS score showed no correlation with the course of disease, %BMI and the time spent in caring per day. Scores of BAI and BDI, and vitality, social function, role-emotion and mental health domain of SF-36 showed low correlation with FBS score (all P<0.05). Conclusion • Self-rated FBS shows good reliability when used in families of AN patients. The validity is not as ideal, which suggests further revision of the scale.