Objective To report the clinical manifestation and gene mutation of congenital insensitivity to pain with anhidrosis (CIPA) in two patients from one family. Methods The data of clinical manifestation, laboratory examination, and family history of two patients were collected. The peripheral blood of patients and their parents were collected. Neurotrophic tyrosine kinase receptor type 1 (NTRK 1 ) gene was detected directly by Sanger method, the pathogenicity of the mutation in the gene was analyzed by bioinformatics. Results Both of patients were female and mainly suffered with reduplicated non-infectious fever, anhidrosis, insensitive to pain, and mental retardation. The proband had fracture many times after minor injury. The ninth exon of NTRK 1 genes in the proband and her younger sister were found to have heterozygous mutations, c. 851-33 T>A, as previously reported. Meanwhile, there was also found a new mutation, c. 1711 G>A (p.G 571 S), in thirteenth exon of NTRK 1 genes in these two patients. It was predicted to be a harmful mutation by bioinformatics and the mutation site is conservative. Their father and mother were found carrying the c. 851-33 T>A and c. 1711 G>A mutations respectively. Conclusion Both patients had typical clinical manifestations. And the newly discovered p.G 571 S mutation expands the mutation spectrum of NTRK 1 gene.

Objective To detect circulating CD4 + CD25 + regulatory T cells (Treg) and Toll-like receptor(TLR)2 and TLR4 expression on the peripheral blood mononuclear cells (PBMCs) of patients with HBV-related liver cirrhosis (LC), and to explore the correlation between them. Methods PBMCs isolated from 30 LC patients, 21 chronic hepatitis B (CHB) patients and 16 normal controls(NC) were stained with fluorescent labeling anti-TLR2-PE, anti-TLR4-APC, anti-CD14-FITC monoclonal antibodies and anti-CD4-PerCP, anti-CD25-FITC, anti-CD127-PE. Samples were detected by flow cytometry. Statistic analysis be-tween groups was performed by Kruskal-Wallis H test. Spearman rank correlation was used to analyze the correlation of Treg and TLR2, TLR4. Results The expression of TLR2 and TLR4 were significantly up-reg-ulated in patients with LC than those in the controls (TLR2 : 200.3 ± 96.8 vs 94.1 ± 17.6, P < 0.05 ; TLR4:32.1 ±7.2 vs 17.8 ±3.9, P<0.05). The expression of TLR4 was significantly increased in pa-tients with LC than those in patients with CHB (TLR4 : 32. 1 ± 7.2 vs 25.2 ± 8.3, P < 0.05), but there were no differences of TLR2 expression between LC and CHB(200.3 ± 96.8 vs 214.0 ± 72.6, P > 0.05). Treg/CD4+ T cells were 5.07% ±1.43%, 5.88% ±1.66%, 4.21% ±1.24% in patients with LC, CHB and NC, respectively. Treg/CD4+ T cells were significantly increased in patients with CHB than those in pa-tients with NC(P<0. 05) and LC(P <0.05), but there were no differences between LC and NC(P > 0.05). TLR4 expression and Treg were positive correlation (r = 0. 469, P = 0. 032) and TLB2 expression were negative correlation in patients with LC (r = -0.428, P = 0.021). Conclusion The expression of TLR2 and TLR4 were up-regulated on PBMCs in patients with LC. It seems to be expression of TLR2 and TLR4 in-volved in the pathogenesis of LC.

Bioradar is based on the integration of theory of radar and bio-medical engineering,which can detect the life-parameters in farther distance.It is new concept radar presented by foreign experts.The technology can be widely used in detection of lifeform signal and non-contact clinical monitoring.Biomedical signal processing method is the premise that the technology can be realized.The signals can be interfered by the environmental factors,breath motion and so on,especially the influences of breath motion which can not be solved by average methods.A large number of signal processing methods are used in various aspects of the technology.This review introduces the progress of bioradar technology and the application of the current signal processing methods in the field.

Objective This study was designed to determine the in vitro sensitivity of LMWH caused by different reagents,and to explore whether the ACT can be used to monitor LMWH.Methods This study was performed in vitro.ACT was measured with different reagents(glass beads,celite,and kaolin)on volunteer(n =30)blood samples spiked with increasing concentrations of LMWH(datleparin,0.2-1.8IU/ml).Linear regression analysis was performed to establish a regression equation from different concentration of datleparin and corresponding ACT values.Results Analysis of dose-response curves obtained in vitro,an excellent linear relationship was observed between the ACT and dalteparin concentrations for all three reagents(p less than 0.01).Differences in slope of the regression curves of ACT were observed with all the reagents tested(glass beads 249.7s/IU,celite 77.7s/IU,and kaolin 59.3s/IU,p less than 0.01).Reagents vary widely in their in-vitro sensitivity related to dalteparin.In the concentration range of 0.2-1.8 IU/ml,the gaolin reagent was insensitive to dalteparin,and glass beads was the most suitable reagent for monitoring the anticoagulant effect of dalteparin.Conclusions Glass beads,celite,and kaolin.Glass beads were the most suitable reagent for monitoring the anticoagulant effect of dalteparin.Vary widely in their in-vitro sensitivity related to datleparin.

The measurement methods of respiration can be mainly divided into contact and non-contact.Contact detection methods include volumetric flowmeter,velocity flowmeter,temperature detection,displacement detection,impedance detection,wearable technology and sleep mattress,etc.Although these methods are noninvasive and mature,they all require electrodes or sensors to touch the body of human subjects,which limit the users’ freedom and are not suitable for severely bumed patients and newborns.In non-contact monitoring,the respiration is measured by using the media such as electromagnetic waves,optical media,etc,and without any electrodes or sensors to touch the body whiles the human subject keeping natural status.Non-contact detection method using infrared and biological radar has been a research focus both at home and abroad,which can be used for clinical,community and family care.

Objective To observe the protective effects of Toll-like receptor(TLR)-4 siRNA against acute liver injury in mice induced by lipopolysaccharide(LPS)and D-galactosamine(D-GalN).Methods One hundred and fifty C57BL/6 male mice were divided into 5 groups: phosphate buffered solution(PBS)pretreatment group,negative control plasmid pretreatment group,TS4 pretreatment group,TS6 pretreatment group and TS7 pretreatment group.Acute liver injury was induced in mice by intraperitoneal coinjection of LPS(10 ng/g)and D-GalN(1 mg/g).In vivo delivery of siRNA was performed via the tail vein by hydrodynamic injections(50 μg siRNA dissolved in 1 mL PBS)24 h and 48 h before coinjection of LPS and D-GalN. Expression of TLR-4 in liver tissues was measured by immunohistochemistry.The changes of TLR-4,tumor necrosis factor(TNF)-α and macrophage nflammatory protein(MIP)-2 mRNA levels in liver tissues were determined by reverse transcriptasepolymerase chain reaction(RT-PCR)analysis.MIP-2 and TNF-α concentrations in the sera of mice were determined by enzyme-linked immunosorbent assay(ELISA). Levels of alanine transaminase (ALT) and aspartate transaminase(AST) in serum were measured by standard autoanalyzer techniques. Liver pathological changes were observed by haematoxylin-eosin staining, while cell apoptosis levels in liver were determined by terminal deoxynucleotidyl-mediated-dUTP nick end labeling (TUNEL)assay. The difference of survival rates in 5 groups was analyzed by Fisher's exact probability test.ResultsPretreatment with TLR-4 siRNA down-regulated the TLR-4 mRNA and protein expressions,and significantly decreased the mortality and liver injury caused by coinjection of LPS and D-GalN in C57BL/6 mice.TLR-4 siRNA significantly down-regulated the TNF-α and MIP-2 mRNA expression and cytokine levels as determined by RT-PCR and ELISA,respectively. TLR-4 siRNA abrogated hepatocyte necrosis and inflammatory infiltration and also remarkably reduced serum concentrations of transaminases. The percentage of TUNEL-positive hepatocytes was significantly reduced in TLR-4 siRNA pretreatment group(TS4 pretreatment group: 0.065±0.015 vs PBS pretreatment group; 0.346±0.062,P＜0.05).ConclusionIt suggest that inhibition of TLR-4 expression by TLR-4 siRNA may provide potential application value for preventing liver injury.

A novel system is proposed to control the liquid nitrogen cooling and radio frequency heating of tissue to achieve effective thermal ablation in the treatment using fuzzy logic controller and fuzzy logic PID type controller separately. Results of ex-vivo pig liver experiments demonstrate that this system is useful and could p control the desired treatment procedure.
Algorithms ; Animals ; Computer Simulation ; Cryotherapy ; instrumentation ; methods ; Electrocoagulation ; instrumentation ; methods ; Equipment Design ; Fuzzy Logic ; Liver ; Swine

Objective To evaluate the association between methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and susceptibility to methotrexate (MTX) adverse reaction in children with acute lymphoblastic leukemia (ALL) chemotherapy. Method The data bases of The Cochrane Library, PubMed, EMbase, EMCC, OVID, CNKI, VIP and WanFang Data were searched for relevant articles published in English and Chinese up to March 2016. Two researchers independently screened literature, extracted data, and assessed bias risk in the included studies. The RevMan 5.3 and Stata 12 software were used to analyze the association between gene polymorphism and the adverse reaction of MTX chemotherapy with the recessive, dominance, co-dominance, addition and allele gene model respectively. Results A total of 12 studies were included and all of them were case-control study, with 1419 cases in case group and 2188 cases in control group. The results of meta-analysis showed that the MTHFR gene polymorphism was unrelated to the untoward effect of neutropenia, thrombocytopenia, hemoglobin reduction, mucosal damage and liver function damage during MTX chemotherapy in children with ALL under the 5 analytical models. Under the co-dominance gene model, the association between MTHFR polymorphism C677T and overall adverse reaction of MTX was statistically significant (OR=1.39, 95％CI: 1.02～1.91, P=0.04). In the recessive gene model, the C677T polymorphism of MTHFR was associated with a reduced risk of gastrointestinal adverse reactions during MTX chemotherapy (OR=3.31, 95％CI: 1.03～10.59, P=0.04). In the dominance gene model, the C677T polymorphism of MTHFR was associated with a reduced risk of skin damage induced by MTX chemotherapy (OR=3.05, 95％CI: 1.25～7.41, P=0.01). Conclusion There is no significant association between the C677T polymorphism of MTHFR and the adverse effects of MTX chemotherapy, butfurther studies with larger sample size are needed.

Objective: To explore the association between methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and toxicity of Methotrexate(MTX) chemotherapy in pediatric acute lymphoblastic leukemia (ALL). Methods: From January 2015 to June 2018, 128 pediatric patients with ALL in southern Fujian who were admitted at the First Affiliated Hospital of Xiamen University were selected.Their peripheral blood 2 mL was collected and genomic DNA was extracted.The MTHFR genotype was detected by polymerase chain reaction(PCR) direct sequencing method, and the clinical significance of HD-MTX on ALL children with toxic and side effects was evaluated according to the National Cancer Institute-Common Toxicity Criteria. Results: Among 128 children, 54 cases(42.2%) presented rash, 48 cases (37.5%)with mucosal lesions, 51 cases (39.8%) with liver function damage, 23 cases (18.0%) with renal function damage, 52 cases (40.6%) with gastrointestinal reactions, 38 cases (29.7%)with leukopenia, 34 cases (26.6%) with thrombocytopenia and 63 cases (49.2%) with hemoglobin reduction.There was no significant difference in the incidence of MTX adverse reactions (rash, mucosa lesions, liver and renal function damage, gastrointestinal reaction, leukopenia, hemoglobin decrease and thrombocytopenia) between the MTHFR C677T and A1298C polymorphisms (all P>0.05). The different clinical risk (MTX dose) of the children was not statistically signi-ficant in the MTHFR C677T and A1298C genotypes and allele frequencies (χ²=2.573, 2.264, 1.615, 0.267; all P>0.05). There was no significant difference among the abnormal incidence of MTX at 24 h, 48 h and 72 h (all P>0.05). Conclusions MTHFR C677T and A1298C polymorphisms do not seem to be good markers of MTX-related toxicity and/or outcome in pediatric ALL in southern Fujian, and its clinical application still needs further discussion.

Objective:To investigate the risk factors of bleeding events in patients with high international normalized ratio (INR) values (INR>3.5) in warfarin therapy.Methods:Two hundred and one patients with high INR values (INR>3.5) during warfarin therapy admitted in Beijing Tongren Hospital from August 2013 to August 2019 were enrolled. The bleeding occurred in 75 patients (bleeding group) and did not occur in 126 cases (non-bleeding group) during hospitalization. The bleeding group included 12 major bleeding patients and 63 minor bleeding patients. The baseline information, laboratory results and medication of other drugs were recorded.Results:There were no significant differences in age, sex, smoking history, drinking history, previous bleeding history and the proportion of first application of warfarin between the two groups ( P>0.05).The proportion of patients with liver dysfunction [7.14%(9/126)], renal dysfunction [11.90%(15/126)], anemia [4.76%(6/126)], hypoproteinemia [4.76%(6/126)], infectious diseases [20.63%(26/126)] in non-bleeding group were significantly lower than that in bleeding group [16.00% (12/75), 32.00% (24/75), 29.33%(22/75), 16.00%(12/75), 44.00%(33/75); χ 2=3.942, 12.140, 23.675, 7.283, 12.377, respectively; all P<0.05]. A total of 54 kinds of drugs were associated with the INR elevation. The most commonly used drugs were cardiovascular system drugs ( n=162, 80.60%), blood system drugs ( n=155, 77.11%), anti-infective drugs ( n=112, 55.72%), digestive system drugs ( n=82, 40.80%), and endocrine system drugs ( n=56, 27.86%). The INR values [4.58(3.94, 5.90), 4.96(4.03, 8.27)] and the HAS-BLED scores [3.00 (2.00,3.00), 3.00(2.25,3.00)] in minor bleeding group ( n=63) and major bleeding group ( n=12) were higher than those in non-bleeding group [4.00(3.74, 4.35), 2.00 (1.00,3.00), P<0.01), but there was no significant difference in INR values and HAS-BLED scores between minor bleeding group and major bleeding group ( P>0.05). Conclusion:There are many factors leading to the increase of INR in patients taking warfarin, such as abnormal liver and kidney function, anemia, hypoproteinemia, and the use of antibacterial drugs. It is necessary to be cautious about co-administration in these patients.