Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature / 中华儿科杂志

Objective: To summarize the genotypes and clinical characteristics of homozygous family hypobetalipoproteinemia (Ho-FHBL) caused by apolipoprotein B (APOB) gene variations. Methods: The clinical, laboratory, genetic, and liver histology data of a boy with Ho-FHBL managed in the hepatology ward of the Children's Hospital of Fudan University in May 2021 were retrospectively analyzed. The literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, China VIP database, China Biology Medicine disc and PubMed database (up to May 2022) with "familial hypobetalipoproteinemia" or "hypobetalipoproteinemias" or "hypo beta lipoproteinemia" or "hypolipoproteinemias" as the search terms. All relevant literatures were reviewed to summarize the clinical and genetic features of Ho-FHBL caused by APOB gene variations. Results: The male patient was admitted to the hospital due to abnormal liver function tests for 8 months at the age of 4 years and 6 months. Blood biochemistry showed transaminitis and abnormally low serum levels of lipids. Liver biopsy revealed fatty liver with inflammation and early cirrhosis (Brunt score was F3G2S4). Whole exome sequencing revealed two novel variants of APOB gene (c.3745C>T, p.Q1249 * from the father and c.4589_4592delinsAGGTAGGAGGTTTAACTCCTCCTACCT, p.T1530Kfs * 12 from the mother). He was diagnosed as Ho-FHBL caused by APOB gene compound heterozygous variations. Literature search retrieved 36 English literatures and 0 Chinese literature. A total of 55 (23 males and 32 females) Ho-FHBL cases, including this one, were caused by 54 APOB gene pathogenic variants (23 frameshift, 15 nonsense, 7 missense, 8 splice and 1 gross deletions). The age of the last follow-up was between 1 month and 75 years. Among them, 28 cases had lipid malabsorption, 19 cases had early dysplasia, 12 cases had no symptoms. Twenty-one patients had symptoms related to fat soluble vitamin deficiency, including 14 cases of acanthocytosis, 10 cases of neurological symptoms, and 6 cases of ocular lesions. Thirty-four patients had liver involvement, including 25 cases of elevated transaminase, 21 cases of fatty liver, 15 cases of hepatomegaly, 9 cases of liver fibrosis, 3 cases of liver cirrhosis, 1 case of hepatic hemangioma and 1 case of liver neoplastic nodule. Conclusions: The variants of APOB gene in Ho-FHBL are mainly frameshift and nonsense variations. Patients may have lipid malabsorption and (or) early dysplasia, or symptom-free. Liver involvement is common.

The history, current situation and sanitary management countermeasures of dual piping water supply in Shanghai / 上海预防医学

Objective To fully understand the history, current situation and major health-related problems of dual piping water supply, and to investigate the sanitary situation of the dual piping water supply system in Shanghai. Methods 10 suppliers and 35 employees, as well as 175 apartment owners were investigated by data collecting, field survey, and individual interview. Results The development of dual piping water supply industry in Shanghai slowed down gradually since 2008, and nearly stagnated at present.Only 30%-50%of households choose dual piping water supply on average.Talents shortage and payment in arrears were the major obstructions to the development of the industry.Most users considered dual piping water supply as one of the reasons of apartment purchase, while some apartment owners did not use it because they used water purifiers as substitute or they believed that tap water quality was good enough.Qualification rate of both health inspection and water quality were above 95%.Due to design deficiency and low utilization of water supply network, the quality of back water and tap water of dual piping water supply was worse than the quality of water directly taken from the water processing equipment, both differences were significant(P<0.05). Conclusion There is still certain demands in the market of dual piping water supply.However, there are hidden sanitary dangers in the industry due to its stagnant development and low enthusiasm of operators and lack of governance.Therefore, it is suggested that governance should be clarified, new operational method should be explored and inspection mechanism including social engagement should be built to ensure the sanitation and safety of dual piping water supply .

Correlation studies on three water testing methods-comparison of test results of turbidity and total chlorine / 上海预防医学

[Objective] To study the correlation between onsite rapid examination , online monito-ring and laboratory examination results for drinking water turbidity and total chlorine , and to obtain a basis for rational disposition of the three methods . [ Methods] A total of 87 sets of onsite rapid examination and online monitoring results were compared with laboratory examination results respectively by using paired t tests.Linear correlation coefficients between onsite rapid examination results and laboratory examination results , between online monitoring results and laboratory examination results were calculated .Corresponding linear regression equations were set up . [ Results] There were no significant differences found either between onsite rapid examination results and online monitoring results or between online monitoring results and laboratory examination results .Linear correlation coefficients showed that the degree of correlation be-tween onsite rapid examination results and laboratory examination results was higher than that between on -line monitoring results and laboratory examination results for both turbidity and total chlorine . [ Conclu-sion] Onsite rapid examination and online monitoring are both reliable water examination methods in health inspection .The characteristics of the three methods should be considered when making disposition decisions .One or more methods should be used to maximize working effects and efficiency .

Health inspection and monitoring results analysis on secondary water supply in Shanghai / 上海预防医学

[Objective] To investigate the quality of secondary water supply in Shanghai , in order to provide the basis for efficient management measures . [ Methods] Secondary water supply data were collected and analyzed from Shanghai drinking water health inspection and monitoring information system . [ Results] Cleaning and disinfection of secondary water supply facilities and water quality self -check and others were found to be low in pass rate .The drinking water quality of secondary water supply was lower . The main unqualified monitoring indexes were oxygen consumption , total number of bacteria and residual chlorine. [ Conclusion] Several problems exist in secondary water supply .By using Shanghai drinking water health inspection and monitoring information system , we can take effective measures to achieve sec-ondary water supply scientific supervision , then ensuring water safety .

Effect of low dose radiation on human corrected bone marrow mesenchymal stem cells by using proteomic analysis / 中国实验血液学杂志

This study was aimed to investigate the effect of low dose radiation (LDR) on human bone marrow mesenchymal stem cells (MSCs) by using proteomic analysis. The bidirectional gel electrophoresis was used to establish the two-dimensional gel electrophoresis patterns of proteome in group of MSCs exposed to LDR and in group of sham irradiated MSCs, the matrix assisted laser desorption/ionization-time of flight-mass spectrometry (MALDI-TOF-MS) was used to identify the differentially expressed proteins in two groups. The results showed that among the differentially expressed proteins in the two groups, the expressions of 12 proteins were up-regulated, the expressions of 12 protein were down-regulated, 3 proteins disappeared after LDR, 12 proteins had been identified by MALDI-TOF-MS. In conclusion, the identified 12 proteins, such as prolyl 4-hydroxylase, dihydropyrimidinase-like 2 variant, ARP3 (actin-related protein 3, yeast) homolog, guanine nucleotide binding protein (G protein), phosphoglycerate mutase 1 may be related to mechanism of LDR effect. The study provides some new explanation for the mechanism of low dose radiation injury.

Serum proteome in mice after low dose radiation / 中国实验血液学杂志

This study was purposed to investigate the mechanism of low dose radiation (LDR) by proteomic technology and to find the key proteins of the hormesis and adaptive response induced LDR, which provided the foundation of experimental and theoretical basis for the clinical application of LDR. Two-dimensional electrophoresis (2-DE) was used to screen protein patterns of normal serum and serum of mice exposed to LDR in different time for qualitative and quantitative differences in protein expression. And the differentially-expressed proteins between the two groups were identified by matrix assisted laser desorption/ionization-time of flight-mass spectrometry (MALDI-TOF-MS). The result showed that among the differentially-expressed proteins between the group exposed to LDR and the control group (shom-irradiated group), it was found that after LDR new 4 proteins appeared, 13 proteins were up-regulated, 6 proteins were down-regulated, 3 proteins disappeared in the group exposed to LDR. In different time the quantity of some proteins was different, the protein expression had some characteristics, the estrogen receptor 2 was down-regulated, the vitamin D-binding protein and apolipoprotien were up-regulated in the group exposed to LDR. It is concluded that LDR up-regulate or down-regulate some proteins, some proteins related with LDR were found. It may provide some new explanations for the effect mechanism of the LDR.