Objective: To report gene mutations in nine patients with hereditary elliptocytosis (HE) and analyze the characteristics of pathogenic gene mutations in HE. Methods: The clinical and gene mutations of nine patients clinically diagnosed with HE at Institute of Hematology & Blood Diseases Hospital from June 2018 to February 2022 were reported and verified by next-generation sequencing to analyze the relationship between gene mutations and clinical phenotypes. Results: Erythrocyte membrane protein gene mutations were detected among nine patients with HE, including six with SPTA1 mutation, one with SPTB mutation, one with EPB41 mutation, and one with chromosome 20 copy deletion. A total of 11 gene mutation sites were involved, including 6 known mutations and 5 novel mutations. The five novel mutations included SPTA1: c.1247A>C (p. K416T) in exon 9, c.1891delG (p. A631fs*17) in exon 15, E6-E12 Del; SPTB: c.154C>T (p. R52W) ; and EPB41: c.1636A>G (p. I546V) . Three of the six patients with the SPTA1 mutation were SPTA1 exon 9 mutation. Conclusion: SPTA1 is the most common mutant gene in patients with HE.
Humans ; Mutation ; Elliptocytosis, Hereditary/metabolism* ; Erythrocyte Membrane/metabolism* ; Exons ; High-Throughput Nucleotide Sequencing ; Spherocytosis, Hereditary/metabolism*

Objective: To evaluate the efficacy and safety of intravenous iron supplementation in patients with recurrent iron deficiency anemia (IDA) . Methods: This retrospective analysis of 90 patients with recurrent IDA from May 2012 to December 2021 was conducted, comparing the efficacy and safety of the intravenous iron therapy group and the oral iron therapy group. Results: Among the 90 patients with recurrent IDA, 20 were males and 70 were females, with a median age of 40 (range: 14-85) years. A total of 60 patients received intravenous iron supplementation and 30 received oral iron supplementation. The hematologic response rates in the intravenous iron group were significantly higher than those in the oral iron group at 4 and 8 weeks after treatment [80.0% (48/60) vs 3.3% (1/30) and 96.7% (58/60) vs 46.7% (14/30), all P<0.001, respectively]. The median increase in hemoglobin levels was also significantly higher in the intravenous iron group than in the oral iron group [38 (4, 66) g/L vs 7 (1, 22) g/L at week 4 and 44.5 (18, 80) g/L vs 19 (3, 53) g/L at week 8, all P<0.001]. The intravenous iron group had a significantly higher proportion of patients who achieved normal hemoglobin levels than the oral iron group (55.0% vs 0 and 90% vs 43.3%, all P<0.001, respectively). Iron metabolism indicators were tested before and after 8 weeks of treatment in 26 and 7 patients in the intravenous and oral iron groups, respectively. The median increase in serum ferritin (SF) levels in the intravenous iron group 8 weeks after treatment was 113.7 (49.7, 413.5) μg/L, and 54% (14/26) of these patients had SF levels of ≥100 μg/L, which was significantly higher than the median increase in SF levels in the oral iron group [14.0 (5.8, 84.2) μg/L, t=4.760, P<0.001] and the proportion of patients with SF levels of ≥100 μg/L (P=0.013). The incidence of adverse reactions was 3.3% (2/60) in the intravenous iron group, which was significantly lower than that in the oral iron group [20.0% (6/30), P=0.015]. Conclusion: Intravenous iron supplementation is more effective for hematologic response, faster hemoglobin increase, and higher iron storage replenishment rates compared with oral iron supplementation in patients with recurrent IDA, and it is well tolerated by patients.
Male ; Female ; Humans ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged ; Aged, 80 and over ; Anemia, Iron-Deficiency/epidemiology* ; Sucrose/therapeutic use* ; Ferric Compounds/therapeutic use* ; Retrospective Studies ; Iron/therapeutic use* ; Hemoglobins/therapeutic use*

Hypertensive disorder of pregnancy (HDP) involves two major public health issues: mother-infant safety and prevention and controlling major chronic disease. HDP poses a serious threat to maternal and neonatal safety, and it is one of the leading causes of maternal and perinatal morbidity and mortality worldwide, as well as an important risk factor for long-term cardiovascular disease (CVD). In order to explore effective strategies to prevent and control the source of CVD and reduce its risk, we have established a cohort of HDPs in Shenzhen for the primordial prevention of CVD. The construction of the HDP cohort has already achieved preliminary progress till now. A total of 2 239 HDP women have been recruited in the HDP cohort. We have established a cohort data management platform and Biobank. The follow-up and assessment of postpartum cardiovascular metabolic risk in this cohort has also been launched. Our efforts will help explore the pathophysiological mechanism of HDP, especially the pathogenesis and precision phenotyping, prediction, and prevention of pre-eclampsia, which, therefore, may reduce the risk of adverse pregnancy outcomes, and provide a bridge to linking HDP and maternal-neonatal cardiovascular, metabolic risk to promote the cardiovascular health of mothers and their infants.

Obesity is increasingly prevalent globally, searching for therapeutic agents acting on adipose tissue is of great importance. Equisetin (EQST), a meroterpenoid isolated from a marine sponge-derived fungus, has been reported to display antibacterial and antiviral activities. Here, we revealed that EQST displayed anti-obesity effects acting on adipose tissue through inhibiting adipogenesis in vitro and attenuating HFD-induced obesity in mice, doing so without affecting food intake, blood pressure or heart rate. We demonstrated that EQST inhibited the enzyme activity of 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), a therapeutic target of obesity in adipose tissue. Anti-obesity properties of EQST were all offset by applying excessive 11β-HSD1's substrates and 11β-HSD1 inhibition through knockdown in vitro or 11β-HSD1 knockout in vivo. In the 11β-HSD1 bypass model constructed by adding excess 11β-HSD1 products, EQST's anti-obesity effects disappeared. Furthermore, EQST directly bond to 11β-HSD1 protein and presented remarkable better intensity on 11β-HSD1 inhibition and better efficacy on anti-obesity than known 11β-HSD1 inhibitor. Therefore, EQST can be developed into anti-obesity candidate compound, and this study may provide more clues for developing higher effective 11β-HSD1 inhibitors.

Under the dual pressure of emerging zoonoses and the difficulty in eliminating conventional zoonoses, many uncertainties in global control of infectious diseases are challenging the achievement of sustainable development goals set by the United Nations General Assembly. One Health, developed on the basis of understanding the relationship between human diseases and animal diseases, is conducive to the prevention and control of zoonoses. The connotation of “One Health” is mainly explained by three aspects, namely the systems thinking mode of “unity of environment and man”, the practice guidance of “multi-sectoral concert” and the economic evaluation strategy of “cost-effectiveness analysis”. One Health approach has been successfully applied in the control of major infectious diseases in China, such as schistosomiasis, leading to remarkable achievements; however, there are still multiple challenges. This review proposes that much attention should be paid to top-level design, the difference between emerging zoonoses and conventional zoonoses, and the dynamic process of One Health governance during the development and application of One Health.

We aimed to assess the risks of
China ; Cryptosporidiosis/microbiology* ; Cryptosporidium/isolation & purification* ; Giardia/isolation & purification* ; Giardiasis/microbiology* ; Humans ; Risk Assessment ; Water Microbiology ; Water Supply/statistics & numerical data*

AIM: To study the polymorphism distribution of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) genes and their influence on serum homocysteine (Hcy) concentration. METHODS: A total of 148 patients diagnosed with ischemic stroke from November 2020 to February 2021 in Yijishan Hospital of Wanan Medical College were selected for the study, and patients were typed for MTHFR 677C/T and MTRR 66A/G genes using fluorescent staining in situ hybridization technique. Serum Hcy concentrations were measured in 21 patients using a circulating enzyme assay. The distribution of MTHFR 677C/T and MTRR 66A/G gene polymorphisms were analyzed, and the differences in serum Hcy concentrations between patients with different genotypes were compared. RESULTS: The mutation rates of MTHFR 677C/T and MTRR 66A/G genes were 42.57% and 26.01%, respectively, and no significant differences in gene distribution frequencies were observed between men and women (P>0.05). The mean Hcy serum concentration was (16.04±4.34) μmol/L in 21 patients, including 8 patients (38.10%) with <15 μmol/L and 13 patients (61.90%) with ≥15 μmol/L. The Hcy serum concentrations in patients with different genotypes of MTHFR were TT (18.91±5.34) μmol/L, CT (14.38±1.84) μmol/L and CC (13.58±2.86) μmol/L, respectively, and were statistically different (P<0.001). Serum Hcy concentrations in patients with different genotypes of MTRR were not statistically different (P>0.05). CONCLUSION: MTHFR gene polymorphisms can affect serum Hcy concentrations. The MTHFR genotyping can be considered for individualized folic acid supplement. This conclusion should be further verified by expanding the clinical sample size.

Objective:To investigate the independent correlation between serum IL-6 level and delayed cerebral ischemia (DCI) after aneurysmal subarachnoid hemorrhage (aSAH) and to evaluate its predictive value for DCI.Methods:Consecutive patients with aSAH admitted to the Affiliated Hospital of Jining Medical University from June 2017 to June 2019 were enrolled retrospectively. They were divided into DCI group and non-DCI group according to the diagnostic criteria of DCI. Multivariate logistic regression analysis was used to determine the independent correlation between serum IL-6 and DCI. Receiver operating characteristic (ROC) curve was used to evaluate the predictive value of serum IL-6 level for DCI. Results:A total of 160 patients with aSAH were enrolled. They aged 66.1±8.1 years, and 98 were males (61.3%); 76 patients (47.5%) had DCI. Multivariate logistic analysis showed that after adjusting for smoking, hypertension, systolic blood pressure, hyperlipidemia, and drug treatment, serum IL-6 (the first quartile as a reference, and the third quartile: odds ratio[ OR] 3.885, 95% confidence interval [ CI]1.361-7.189; the fourth quartile: OR 9.706, 95% CI 3.412-18.344), Glasgow Coma Scale score ( OR 2.174, 95% CI 1.325-4.538) and Fisher grade ( OR 3.267, 95% CI 1.638-6.725) were independently associated with DCI. The ROC curve showed that the area under the curve of serum IL-6 for predicting DCI was 0.777 (95% CI 0.706-0.849), and the optimal cut-off value was 13.01 ng/L. The sensitivity and specificity of predicting DCI were 72.4% and 71.4%, respectively. Conclusions:Serum IL-6 is an independent risk factor for DCI after aSAH, and has certain predictive value for DCI.

Objective:To evaluate the efficacy of proximal humerus internal locking system (PHILOS) via the minimally invasive plate osteosynthesis (MIPO) in the treatment of proximal humeral fractures.Methods:This retrospective study analyzed 30 elderly patients with proximal humeral fracture who had been treated by PHILOS via MIPO from September 2016 to March 2020 at Department of Orthopedic Surgery, People’s Hospital of Zhuxi County. They were 19 females and 11 males with an average age of 60.96 years (from 45 to 80 years). All patients were treated by closed reduction. After fracture reduction was confirmed by fluoroscopy, a minimally invasive incision was made below the acromion, with a couple of suture wires reserved at the rotator cuff attachments. A PHILOS plate was inserted at 4 mm lateral to the intertubercular sulcus, with the suture wires passing through the proximal suture holes on the PHILOS. After a lag screw was first screwed up into the compression hole on the PHILOS plate, the crossing suture wires were tightened up to resist the rotator cuff stress and maintain the internal inclination of the humeral head. Kirschner wires were used to temporarily stabilize the reduction. After satisfactory reduction and fine plate positions were confirmed by fluoroscopy, locking nails were screwed up. The internal inclination of the affected humeral head was compared between preoperation and the last follow-up. The therapeutic efficacy was evaluated by the shoulder Neer scoring system, and the visual analogue scale (VAS) pain scores and complications were recorded at the last follow-up.Results:All the 30 patients were followed for 6 to 18 months (average, 12 months). There was no incision infection, neurovascular injury, or internal fixation failure. Anatomical reduction was achieved in 25 patients and functional reduction in 5. The inclination of the humeral head was significantly improved. The VAS scores at the last follow-up averaged 1.9. Follow-up X-ray examination showed that bony union was achieved after 6 to 18 months (average, 9 months) for all patients. At the last follow-up, the inclination angle of the affected humeral head was 130°±5°, significantly improved compared with the preoperative 90°±11.2° ( P<0.05). All patients had good functional recovery of the shoulder. The efficacy was, according to the Neer shoulder scores at the last follow-up, excellent in 22, good in 6 and fair in 2 cases. Conclusions:Treatment of proximal humeral fractures using PHILOS via MIPO technique is suitable for patients with osteoporotic fracture, and may lead to fine therapeutic efficacy.

italic>Dendrobium moniliforme is an important source of Dendrobii Caulis and one of the main sources of authentic Fengdou. The complete chloroplast genome of D. moniliforme was sequenced using Illumina Hiseq technology and its gene map and genomic structure were analyzed. Then comparative and phylogenetic analysis of the complete chloroplast genomes of D. moniliforme and its related species were conducted. The chloroplast genome of D. moniliforme was 150 754 bp in length and had a typical quadripartite structure with a large single copy (LSC, 84 818 bp), a small single copy (SSC, 14 124 bp) and two inverted repeats (IRs, 25 906 bp each). A total of 123 chloroplast genes were annotated, including 77 protein-coding genes, 38 tRNA genes and 8 rRNA genes, of which 17 genes contained introns. Bioinformatics analysis identified 53 SSR sites, most of which had A-T base preference. A phylogenetic tree was constructed using the chloroplast genome sequences of 33 Dendrobium species. The results showed that Dendrobium complex species were clustered in a single large branch, indicating that they were closely related. This study provides a scientific basis for the identification of D. moniliforme and the phylogenetic relationship of D. moniliforme complex species necessary for Herbgenomics research.