Turner syndrome is a sex chromosome disease with a female clinical phenotype.Most pa-tients are diagnosed in childhood or adolescence because of growth delays,and a small number of patients are diagnosed due to TS-related diseases.Women with Turner syndrome can develop hyper-tension in childhood and adolescence,and the prevalence of hypertension increases with age.The pathogenesis is unclear and may be multifactorial,similar to essential hypertension.In this review arti-cle,we explore possible mechanisms,blood pres-sure management,and treatment recommenda-tions for hypertension in patients with Turner syn-drome.

Objective:To investigate the expression of iron-regulating erythroid factors in different types of erythropoiesis disorders.Methods:From January 2016 to November 2019, the plasma concentrations of iron-regulating erythroid factors were measured by ELISA methods in 47 patients with different types of erythropoiesis disorders. The adaptation orientation of iron-regulating erythroid factor expression with bone marrow erythropoiesis activities (represented by bone marrow-nucleated erythrocytes ratio) was analyzed.Results:The median plasma growth differentiation factor (GDF) 15 levels in patients with polycythemia vera (PV) , pure red cell aplasia (PRCA) , autoimmune hemolytic anemia (AIHA) , and myelodysplastic syndrome (MDS) were 266.01 ng/L (112.40, 452.37) , 110.63 ng/L (81.41, 220.42) , 52.11 ng/L (32.61, 171.66) , and 276.53 (132.16, 525.70) ng/L, respectively, which were significantly higher than those in normal patients with 37.45 (19.65, 57.72) ng/L (all P < 0.01) . The plasma TWSG1 expression levels were not significantly different in patients with PV, PRCA, AIHA, and MDS from those of normal patients (P>0.05) . The median plasma GDF11 level in PV was 74.75 (10.95, 121.32) ng/L, which was significantly higher than 36.90 (3.38, 98.34) ng/L in normal control subjects ( P<0.01) . However, no statistical differences were observed in the other three subjects ( P>0.05) . The median plasma erythroferrone (ERFE) levels in AIHA and PV were 121.76 ng/L (68.12, 343.11) and 129.63 (47.02, 170.03) ng/L, respectively, with the highest level in AIHA in all the studied types of erythropoiesis disorders. The bone marrow-nucleated erythrocytes ratio was significantly and positively correlated with ERFE ( r=0.458, P=0.001) but not with GDF15 ( r=-0.163, P=0.274) , GDF11 ( r=0.120, P=0.421) , and TWSG1 ( r=-0.166, P=0.269) . Conclusion:The expression profile of iron-regulating erythroid factors is not exactly the same in different types of erythropoiesis disorders. ERFE demonstrated the highest correlation with erythropoiesis activities.

Objective:To study the effect of iron deficiency level for oral iron absorption in iron deficient patients.Methods:37 non-pregnant female patients who were diagnosed with iron deficiency and 13 healthy females who completed their physical examination at the outpatient department of the Anemia Center of the Institute of Hematology & Blood Diseases Hospital from July 2018 to June 2020 were included. Hepcidin and C2-C0 of oral iron absorption test were analyzed in different iron deficiency and serum ferritin level.Results:The median of Hepcidin in IDA, ID/IDE and healthy control group were 4.9 (2.17-32.86) , 26.98 (11.02-49.71) and 69.89 (42.23-138.96) μg/L ( P<0.001) , respectively. Hepcidin level of IDA group was lower than that of ID/IDE group (adjusted P=0.005) and healthy control (adjusted P<0.001) . Hepcidin level of ID/IDE group had no significant difference compared with healthy control (adjusted P=0.22) . The mean of C2-C0 in IDA, ID/IDE and healthy control group were (35.30±21.68) , (37.90±14.06) and (23.57±10.14) μmol/L ( P=0.130) , respectively. Multilinear regression analysis showed C0, SF, sTFR and HGB were independent factors for Hepcidin in iron deficient patients, with an equation of Hepcidin=-31.842-0.642*C0+2.239*SF+1.778*sTFR+0.365*HGB-0.274*RET-HB. We didn't find independent factor of C2-C0. Conclusion:The degree of iron deficiency had an effect on oral iron absorption. Patients of ID/IDE group absorbed iron more slowly than patients of IDA group. Iron deficient patients with normal gastrointestinal function absorbed more iron by oral administration when they were in a more serious iron deficient stage. Hepcidin was a better parameter to distinguish iron absorption level among different iron deficient patients than C2-C0 of oral iron absorption test.

Objective To investigate the effects and mechanisms of glutamine (Gln) supplementation on oxidative stress,autophagy response and neurobehavioral outcome after traumatic brain injury (TBI) in rats.Methods TBI animal models were established using Feeney's method.Eighty SD rats were randomly divided into 4 groups:sham operation group (group Sham),Sham + glutamine supplementation group (group Sham+ GLN),traumatic brain injury group (group TBI),and TBI + glutamine supplementation group (group TBI+ GLN).We measured rat behavioral outcomes by modified neurologic severity score (mNSS) tests at day 1,3,7 and 14 after TBI.The apoptosis neurons in TBI cerebral cortex were determined by TUNEL staining.The expression of reactive oxygen species (ROS) was tested by ROS kits.Oxidative stress and autophagy related cytokines (HO-1,NQO1,Nrf2,LC3-Ⅱ and Beclin-1) were tested with Western blotting.Results Compared with the TBI group,the neurological function was improved [(9.79±0.43) vs.(8.43±0.30),F =6.775,P =0.010] and the apoptosis rate decreased (19.88％ ± 1.60％ vs.15.35％ ± 1.28％,P =0.013) in the TBI+ GLN group after 7-day treatment.Compared with the Sham group,the protein expression of ROS increased (P=0.000),and the expression of anti-oxidative stress factors (HO-1,NQO1) and Nrf2 pathway significantly decreased in the TBI group.After glutamine supplementation was given,the expression of ROS decreased and the expressions of HO-1 and NQO1 increased.The Nrf2 pathway and autophagy response also were activated with the expressions of Nrf2,LC3-Ⅱ and Beclin-1 increasing.Conclusion Glutamine supplementation can markedly reduce neuron apoptosis and improve neurological outcomes after TBI,thus has the protective effect on nerves by inhibiting TBI-induced oxidative stress response,activating Nrf2 pathway and autophagy response.

Objective To analyze the clinical and genetic features of immunodeficiency,centromeric instability,and facial anomalies (ICF) syndrome with a case report and literature review.Methods The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed."ICF syndrome" "immunodeficiency,centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018,and the literature was reviewed.Results A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year.Laboratory tests showed humoral immune deficiency with IgG＜ 1.34 g/L,IgA＜0.060 g/L,and IgM＜0.179 g/L,but normal cellular immunity (total T lymphocyte 0.503,hepler T lymphocyte 0.328,cytotoxic T lymphocyte 0.166,natural killer cell 0.184,total B lymphocyte 0.276).Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A＞G in intron 8,and a de novo heterozygous missense mutation c.2477G＞A in exon 23 of DNMT3B gene.Chromosome karyotype analysis showed 46,XX,with 64 out of 100 karyotypes showing centromere instability in chromosome 1.Five papers were found which were all in English,with total of 29 patients.Forty-three mutations were reported,including 34 missense,2 deletion,1 insertion,6 splice site mutations.Eleven patients had complex heterozygosis mutations.All patients had centromere instability,humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears.Most patients had language and motor development delay,and a few were combined with mental retardation.Conclusions ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations.De novo mutation of DNMT3B gene is one of etiologies according to genetic test.

OBJECTIVETo explore the characteristics of mutations 4 common deafness-related genes among 216 patients from Shanghai area with non-syndromic hearing impairment (NSHI).

METHODSThirteen mutation sites in the four genes, namely GJB2 (c.35delG, c.176del16, c.235delC, c.299delAT, and c.155delTCTG), SLC26A4 (c.IVS7-2A>G, c.2168A>G, and c.1229C>T), mtDNA 12SrRNA (m.1494C>T, m.1555A>G, m.7445A>G, and m.12201T>C) and GJB3 (c.538C>T) were detected among the 216 patients and 41 individuals with normal hearing. The frequency and types of mutations were compared between the two groups.

RESULTSAmong the 216 NSHI patients, the total detection rate was 16.20% (35/216). GJB2 mutations were found in 17(7.87%) of the 216 patients, which included 5 cases with homozygous c.235delC mutation, 5 with homozygous c.235delC mutation, 1 with homozygous c.299delAT mutation, and 1 with homozygous c.299delAT mutation. c.235delC and 299delAT mutations were found in 5 cases. SLC26A4 mutation was found in 12(5.56%) of the 216 patients, which included 2 cases with homozygous c.IVS7-2A>G mutation, 9 with homozygous c.IVS7-2A>G mutation, and 1 with homozygous c.2168A>G mutation. Homogeneous mtDNA 12SrRNA m.1555A>G mutation was found in 6(2.78%) of the 216 patients. No GJB3 gene mutation was detected. No mutation of the 4 genes were detected in the 41 individuals with normal hearing. In 2 cases of the 12 patients with SLC26A4 gene mutation, CT scan of the temporal bone has confirmed expansion of vestibular aqueduct.

CONCLUSIONAbove results indicated that GJB2 and SLC26A4 were the major genes involved with hearing loss in Shanghai area.

Objective To investigate the effects of enteral immunonutrition supplemented with omega-3 polyunsaturated fatty acid (ω-3 PUFA) on inflammatory response,intestinal mucosal barrier function and the prognosis in patients with severe traumatic brain injury (sTBI).Methods 122 patients of sTBI hospitalized between January 2015 and December 2016 were randomly divided into experimental group (ω-3 PUFA,n=61) and control group (n =61).The serum levels of tumor necrosis factor-α (TNF-α),interleukin (IL)-6 and neuron specific enolase (NSE) were tested with enzyme linked immunosorbent assay.Meanwhile,D-lactate acid and intestinal fat acid binding protein (I-FABP) were evaluated by enzymology spectrophotometer method.After 14 days of treatment,the Glasgow Coma Scale (GCS) scores,Acute Physiology and Chronic Health Evaluation (APACHE) Ⅱ scores and prognoses of both groups were compared.Results The serum levels of inflammatory factors (TNF-α and IL-6),intestinal mucosal barrier function indicators (D-lactate acid and I-FABP) and NSE proteins significantly increased after sTBI (P =0.01).Compared with the control group,the experimental group on day 3 had significantly lower serum levels of inflammatory factors [TNF-α:(107.77± 19.79) μg/Lvs.(151.76±21.65) μg/L,P=0.01;IL-6:(76.85±7.15) μg/Lvs.(105.27±10.12) μg/L,P=0.01] and intestinal mucosal barrier function indicators [D-lactate:(69.81 ±6.32) μg/L vs.(89.80± 8.75) μg/L,P=0.03;I-FABP:(40.81±6.73) μg/Lvs.(56.60±8.58) μg/L,P=0.01].On day 7,the experimental group had significantly lower expression of NSE proteins than the control group [(13.63± 2.53) μg/L vs.(19.12±3.00) μg/L,P=0.02].The experimental group received better prognosis compared to the control group on day 14 [GCS scores:(9.74±0.76) vs.(8.44±0.53),P=0.04;APACHE Ⅱ scores:(14.67±1.37) vs.(17.53±1.47),P=0.03].The experimental group also had fewer days in hospitalization [(19.37±2.27) d vs.(25.42±2.61) d,P=0.01].Conclusion Enteral immunonutrition supplemented with ω-3 PUFA can effectively regulate the inflammatory response,and reduce impairment to the intestinal mucosal barrier function and damage to neurons in patients with sTBI.

Objective: To investigate the antigenic epitope prediction method of hemagglutinin (HA) protein of influenza A (H1N1) virus. Methods: BALB/c mice were conventionally immunized with influenza H1N1 vaccine. The splenocytes from the immunized mouse were fused with SP2/0 mouse myeloma cell line, and then the antigen-specific monoclonal antibodies (mAbs) were obtained by screening hybridoma supernatants. ELISA blocking test was used to detect the blocking result of each monoclonal antibody, which was labeled by horseradish peroxidase (HRP). The light and heavy chain variable region genes of each antibody were cloned, the amino acid sites of the antibody-binding HA antigen epitope were predicted by computer simulation. Results: Three hybridoma cell lines of stable secreting anti-H1N1 influenza virus HA protein were obtained.Three mAbs were divided into two categories by ELISA blocking tests, which were divided into two categories according to preliminary results of computer simulation. Conclusions ELISA blocking test and computer simulation prediction can prove each other in predication of the antigenic epitopes of HA protein of H1N1 influenza virus.

Objective To investigate the effects of enteral immunonutrition supplemented with omega-3 polyunsaturated fatty acid (ω-3 PUFA) on the incidences and severity of ventilator associated pneumonia com- plications, inflammatory response, and the prognosis in patients with severe traumatic brain injury (sTBI) un-dergoing ventilator therapy. Methods From January 2015 to June 2017, 64 patients of sTBI were selected and randomly divided into experimental group (ω-3 PUFA, n=32) and control group (n=32). White blood cells (WBC) and the proportion of neutrophils (N%) were evaluated by cell analyzer. Meanwhile, the serum levels of C-reactive protein (CRP) and procalcitonin (PCT) were tested with enzyme linked immunosorbent assay. After 14-days treatment, the Glasgow coma scale (GCS) score, APACHE Ⅱ score, clinical pulmonary infec-tion score (CPIS), pulmonary function and prognoses were also compared between the two groups. Results As compared with the control group, the experimental group had lower incidences of ventilator associated pneumonia (66% vs. 56%, P=0. 048), reduced degree of lung infection and lower CPIS (8. 25±0. 60 vs. 7. 47±0. 53); higher lung function indexes [FVC: (2. 89±0. 19) L vs. (3. 46±0. 22) L, P=0. 010;FEV1: (2. 35±0. 16) L vs. (2. 84±0. 24) L, P=0. 040; FEV1/FVC %: (49. 11±3. 34)% vs. (56. 00± 2. 64)%, P=0. 038) ]; lower serum levels of inflammatory responses [WBC: (11. 83±0. 74) ×109/L vs. (9. 51±0. 90) ×109/L, P=0. 029; N%: (79. 11±1. 51)% vs. (72. 71±1. 16)%, P=0. 041; CRP:(85. 15±8. 42) mg/L vs. (63. 96±5. 72) mg/L, P=0. 001; PCT: (6. 43±0. 47) μg/L vs. (4. 83±0. 39) μg/L, P=0. 013] 14 days after enteral immunonutrition supplemented with ω-3 PUFA. As compared with the control group, the experimental group received better prognosis with GCS scores increasing ( 8. 69 ± 0. 41 vs. 9. 52±0. 59, P=0. 038), APACHE Ⅱ scores decreasing (14. 74±1. 01 vs. 12. 68±0. 89, P=0. 049), the time of mechanical ventilation [ (13. 23±1. 17) d vs. (10. 88±1. 24) d, P=0. 024] and the hospitalization days [ (23. 29±2. 45) d vs. (18. 42±1. 96) d, P=0. 012] reduced on the 14th day, mechanical ventilation withdraw rate within 14 days increasing [24/32 (75%) vs. 27/32 (84%), P=0. 030] on the 14th day. Conclusion Enteral immunonutrition supplemented with ω-3 PUFA can effectively reduce the incidence of ventilator associated pneumonia, alleviate the degree of infection and the inflammatory response in patients with sTBI undergoing ventilator therapy possibly improving condition and prognosis, which is worthy of being widely used.

Objective To investigate the effect of endoplasmic reticulum stress on sensitivity of glioma cell line U87 to temozolomide (TMZ) and underlying mechanism.Methods (1) Glioma U87 cells were routinely cultured for 24 h in vitro;different concentrations of TMZ (0,12.5,25,50,100 μmol/L) were added to intervene the cell proliferation of U87 cells for 24 h;MTT method was used to detect the cellular proliferation inhibition rate,and half maximal inhibitory concentration (IC50) of TMZ was calculated;tunicamycin (TM) treatment (0,2,4,8 μmol/L) was given to the cells for 6 h,and then,50 μmol/L TMZ was given for 24 h,and cellular proliferation inhibition rate of U87 was detect by MTT method.(2) U87 cells were randomly divided into control group,TM group,TMZ group and TM+TMZ group;pretreatment of TM for 6 h was given to cells from TM group and TM+TMZ group;and 50 μmol/L TMZ was given to cells from TMZ group and TM+TMZ group;same amount of medium was given to cells from control group;24 h after treatment,the apoptotic rate was examined by flow cytometry;Westem blotting was used to detect the protein expressions of caspase-3,B-cell lymphoma 2 associated X protein (Bax),O-6-methlguanine-DNA methyltransferase (MGMT),glucose-regulated protein 78 (GRP78),and inositol-requiring enzyme 1 (IRE-l).Results (1) MTT showed that IC50 of TMZ was 50 μmol/L.As compared with that of 0 μmol/L TM+50 μmol/L TMZ group or 2 μmol/L TM+50 μmol/L TMZ group,the cellular proliferation inhibition rate of 4 μmol/L TM+50 μmol/L TMZ group and 8 μmol/L TM+50 μmol/L TMZ group was significantly decreased (P＜0.05).(2) As compared with TMZ group,TM+TMZ group had significantly decreased apoptotic rate (46.98％±4.79％ vs.35.74％ ±4.09％),significantly decreased caspase-3 and Bax protein expressions,and significantly increased MGMT,GRP78 and IRE-1 protein expressions (P＜0.05).Conclusion Endoplasmic reticulum stress can increase the resistance gene MGMT expression,decrease the chemotherapy sensitivity to TMZ,and induce chemoresistance ofglioma cell line U87.