Combined oxidative phosphorylation deficiency type 4: clinical features and TUFM gene mutation analysis / 中华神经科杂志

Objective:To investigate the clinical characteristics of patients with combined oxidative phosphorylation deficiency type 4 (COXPD4) related to TUFM gene variation, in order to improve clinicians′ understanding of the disease. Methods:A case of COXPD4 with cystic leukodystrophy admitted to the Children′s Hospital of Zhengzhou University in June 2021 was taken as the study subject, and her clinical characteristics and genetic testing results were retrospectively analyzed. The "combined oxidative phosphorylation deficiency type 4" " TUFM gene" "cystic leukodystrophy" "combined oxidative phosphorylation deficiency 4" "COXPD 4" " TUFM" and "cystic leukodystrophy" were used as keywords, and the documents on COXPD4 related to TUFM gene mutations were reviewed from Wanfang Data Knowledge Service Platform, CNKI, PubMed Document Database, and National Center for Biotechnology Information (NCBI) until August 2021. The COXPD4 patients that have been reported internationally were analyzed for clinical features and variant types. Results:The patient was a 2-month-old girl with clinical manifestations of delayed development and progressive aggravation, elevated lactic acid in serum and cerebrospinal fluid, and diffuse white matter dysplasia with multiple cystic lesions in cerebral magnetic resonance imaging (MRI). Whole exome sequencing showed TUFM gene complex heterozygous variants c.684_684+4delGGTGA and c.1105C>T, which had not been reported in the past. A total of 5 cases of COXPD4 were reported in 4 English literatures. Together with 1 case in this study, there were 4 cases with detailed clinical history data, including 1 male and 3 females. The clinical manifestations were severe early-onset lactic acidosis and developmental lag, and 3 cases were accompanied by progressive infantile encephalopathy. Among them, 3 cases underwent head MRI examination, all of which showed diffuse white matter signal with multiple cystic lesions, 2 cases with basal ganglia involvement and multiple cerebellar gyri deformity. Genetic test indicated different types of TUFM gene variation. Conclusions:COXPD4 is a rare hereditary mitochondrial disease. For cases with COXPD4 clinical and imaging features, TUFM gene mutations can be screened first.

Analysis of clinical characteristics and genetic variants in a child with Isolated sulfite oxidase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with Isolated sulfite oxidase deficiency (ISOD).@*METHODS@#The child and her parents were subjected to targeted capture and next-generation sequencing. Pathogenicity of candidate variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*RESULTS@#The child was found to harbor compound heterozygous variants of the SUOX gene, namely c.1200C>G (p.Tyr400*) and c.1406_1421delCCTGGCAGGTGGCTAA (p.Thr469Serfs*20), which were inherited from her mother and father, respectively. The c.1200C>G was a known pathogenic variant, while the c.1406_1421delCCTGGCAGGTGGCTAA was unreported previously and predicted to be a pathogenic variant (PVS1+PM2_Supporting +PM3) based on the guidelines from the American College of Medical Genetics and Genomics.@*CONCLUSION@#The compound c.1200C>G and c.1406_1421delCCTGGCAGGTGGCTAA variants of the SUOX gene probably underlay the pathogenesis of ISOD in this child. Above finding has expanded the spectrum of SUOX gene variants and provided molecular evidence for the clinical diagnosis and genetic counseling for this pedigree.

Evaluation of the applicability of the Zhang′s diagnostic criteria for atopic dermatitis in adolescents and adults from southern Jiangsu / 中华皮肤科杂志

Objective:To evaluate the applicability of the Zhang′s diagnostic criteria for atopic dermatitis (AD) in adolescents and adults from southern Jiangsu.Methods:A total of 1 769 patients were collected, who were newly diagnosed with eczema or AD in departments of dermatology of 7 hospitals in southern Jiangsu from May 2019 to May 2021. A standardized survey interview was conducted with patients by dermatologists using a self-designed questionnaire, which included patient′s personal information, relevant medical history, clinical characteristics, laboratory tests, etc. Using Hanifin-Rajka criteria as the gold standard, the sensitivity and specificity of the Williams criteria, Zhang′s criteria and Japanese Dermatological Association (JDA) criteria were evaluated, separately.Results:Among the 1 769 patients, there were 759 (42.9%) males and 1 010 (57.1%) females, aged 32.2 ± 8.2 years (range, 12 - 79 years) . Pruritus was the most common clinical feature among the AD patients (883/913, 96.7%) . When using the Hanifin-Rajka criteria as the gold standard, 913 (51.6%) subjects were diagnosed with AD; the sensitivity of Zhang′s criteria reached 92.6% (845/913) , and its specificity was 73.2% (627/856) ; the sensitivity of Williams′ criteria was 87.8% (802/913) , and its specificity was 81.3% (696/856) ; the sensitivity of JDA criteria reached 96.9% (885/913) , and its specificity was 68.9% (590/856) . The consistency in the diagnosis of AD was moderate between the Zhang′s criteria and Williams criteria (Kappa = 0.61, P = 0.009) , was relatively high between the Zhang′s criteria and JDA criteria (Kappa = 0.85, P = 0.001) , and was moderate between the Williams criteria and JDA criteria (Kappa = 0.51, P = 0.013) . Conclusions:Compared with the Hanifin-Rajka criteria, the Zhang′s criteria exhibit good sensitivity and specificity for the diagnosis of AD among adolescents and adults in southern Jiangsu. However, pruritus remains important for the diagnosis of AD.

Clinical and PRRT2 gene variants analysis of three families with benign familial infantile epilepsy / 中华神经科杂志

Objective:To investigate the clinical and gene variant characteristics of benign familial infantile epilepsy in generations of three families.Methods:The clinical data of the three benign familial infantile epilepsy patients with PRRT2 gene variant who were diagnosed and their family members were collected from Children′s Hospital Affiliated to Zhengzhou University between 2018 and 2019. All coding exons from the patients and their parents were screened by targeted next-generation sequencing, and detected variants were verified by Sanger sequencing.Results:In all the patients, a cluster of seizures was observed before one year old,but interictal clinical conditions were normal. The electroencephalograms were all normal in interictal stage. The father of proband 1 presented with convulsion onset at the age of eight months and showed remission before one year old. The grandpa, mother and uncle of proband 2 also presented with convulsion onset in their babyhood of life and showed remission before one year old. The mother of proband 3 presented with convulsion onset in their babyhood of life and showed remission before three years old. Proband 1 carried heterozygous c.937G>C variant in the PRRT2 gene which is inherited from his father. Proband 2 carried c.1075_c.1076insC variant inherited from his mother. A deletion of PRRT2 gene exon 2 was detected in both of proband 3 and her mother. The three variants had not been reported in the Human Gene Mutation Database.Conclusions:Benign familial infantile epilepsy is a kind of inherited epilepsy characterized by early onset of seizure in babyhood with better prognosis, a cluster of focal seizures with or without secondary generalization, and cessation of seizure mostly before two or three years of age. The variants c.937G>C, c.1075_c.1076insC and the deletion of exon 2 in the PRRT2 gene have enriched the gene variant spectrum of benign familial infantile epilepsy.

A rare case of pemphigoid vegetans / 中华皮肤科杂志

A 89-year-old female patient presented with skin lesions of the groin, vulva and intergluteal sulcus for 10 months, and blisters for 3 weeks. Skin examination revealed the red-white hyperplastic plaques on the groin, vulva and intergluteal sulcus, on which mung-bean- to pea-sized erosions and blisters scattered, and several similar blisters were scattered on the right axilla and right leg, some of which were broken and covered with crusts. Histopathological examination of the skin lesion on the intergluteal sulcus showed thickened spinous layer without acantholysis, subepidermal fissures and blisters in some areas, focal papillary dermal edema with eosinophil infiltration, and perivascular infiltration composed mainly of lymphocytes in the superficial dermis. Direct immunofluorescence assay showed linear deposition of IgG and C3 at the epidermal basement membrane zone, clustered deposition of IgM in the dermis, but no IgA deposition. Indirect immunofluorescence on salt-split skin revealed that IgG and C3 were deposited on the epidermal side. Enzyme linked immunosorbent assay (ELISA) showed that serum levels of anti-BP180 and anti-BP230 antibodies were 26.92 U/ml and 68.17 U/ml respectively, and those of anti-desmoglein 1 (Dsg1) and anti-Dsg3 antibodies were normal. The patient was diagnosed with pemphigoid vegetans. After the treatment with oral methylprednisolone combined with topical halometasone ointment and tacrolimus 0.03% ointment, the skin lesions gradually subsided.

Recombinant human tumor necrosis factor-α receptorⅡ: IgG Fc fusion protein for the treatment of drug-induced toxic epidermal necrolysis: a multicenter clinical observation / 中华皮肤科杂志

Objective:To evaluate the efficacy and safety of recombinant human tumor necrosis factor-α receptorⅡ: IgG Fc fusion protein (rhTNFR:Fc) in the treatment of drug-induced toxic epidermal necrolysis (TEN) .Methods:From 2009 to 2018, 22 patients with TEN were enrolled from 8 centers such as the Second Affiliated Hospital of Soochow University, including 10 males and 12 females, whose age ranged from 22 to 75 years. These patients were subcutaneously injected with rhTNFR:Fc at a dose of 25 mg once every 3 days for 6 - 8 consecutive sessions, and the initial dose was doubled. The drug eruption area and severity index (DASI) score and DASI improvement indices (DASI50, DASI75 and DASI90) were assessed before treatment and on days 4, 7, 10, 13, 16, 19, 22 and 25 after treatment; cytometric bead array (CBA) technology was used to detect the level of tumor necrosis factor (TNF) -α in peripheral blood and blister fluid samples. During the treatment, body temperature, rash changes, liver and kidney function of patients were monitored, and adverse reactions were recorded. Statistical analysis was carried out by using repeated measures analysis of variance, paired t test and Pearson correlation analysis. Results:Of the 22 patients, the temperature stopped rising in 20 patients without infections 24 - 72 hours after the first treatment, and returned to normal after 48 - 120 hours. Among the 22 patients, new blisters stopped appearing 24 - 48 hours after the first treatment, the skin color changed from bright red to dark purple after 48 - 96 hours, and most skin lesions subsided after 2 weeks. After 2 - 4 weeks of treatment, levels of alanine aminotransferase and aspartate aminotransferase returned to normal in 19 patients with abnormal liver function. After 4 - 13 days of treatment, levels of creatinine and urea nitrogen stopped rising in 7 patients with abnormal renal function. During the treatment, the DASI score of the 22 patients gradually decreased ( F = 532.81, P < 0.01) , from 53.64 ± 8.67 before treatment to 2.05 ± 1.21 on day 25 after treatment ( t = 26.60, P < 0.001) . On day 10 after treatment, 22 patients (100%) achieved DASI50; on day 19, 22 (100%) achieved DASI75; on day 25, 20 (90.90%) achieved DASI90. The level of TNF-α in peripheral blood of the 22 patients gradually decreased along with the extension of treatment duration, from 33.95 ± 27.90 ng/L before treatment to 2.38 ± 0.79 ng/L on day 25. Before treatment, the level of TNF-α in blister fluid of 15 patients was 111.99 ± 99.41 ng/L, and the ratio of blister-fluid TNF-α level to peripheral blood TNF-α level was 1.83 - 28.21. Before treatment, no correlation was observed between the serum level of TNF-α and DASI score in the 22 patients ( P = 0.10) , while the blister-fluid TNF-α level was positively correlated with DASI score in the 15 patients ( r = 0.59, P = 0.02) . No acute adverse reactions were observed during the treatment. All the 22 patients completed the treatment and were discharged with complete recovery. During 6 months of follow-up after discharge, no recurrence or any complication was observed. Conclusion:rhTNFR:Fc is effective and safe for the treatment of drug-induced TEN.

Clinical and CLB1 gene mutations analysis of GM1 gangliosidosis in a patient / 中华神经科杂志

Objective To investigate the clinical and CLB1 gene mutation characteristics of GM1 gangliosidosis patient. Methods The clinical data of one GM1 gangliosidosis patient from Children′s Hospital Affiliated to Zhengzhou University in March 2018 were reviewed and analyzed. The patient was diagnosed by gene detection and enzymatic activity. Results The patient is a 4 years and 1 month old boy, mainly presented psychomotor retrogression. His β?galactosidase activity was low (8.0 nmol·g-1·min-1). Two splice site mutations (c.458?2A(IVS4)>G and c.1068+5G(IVS10)>A) of patient′s CLB1 gene were screened by targeted next generation sequencing. The results of Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.1068+5G(IVS10)>A was derived from patient′s mother, and the other one is de nove. Conclusion GM1 gangliosidosis is a rare neurodegenerative disease, which could be accurately diagnosed by the next generation sequencing and enzyme assay.

Clinical and CLB1 gene mutations analysis of GM1 gangliosidosis in a patient / 中华神经科杂志

Objective@#To investigate the clinical and CLB1 gene mutation characteristics of GM1 gangliosidosis patient.@*Methods@#The clinical data of one GM1 gangliosidosis patient from Children′s Hospital Affiliated to Zhengzhou University in March 2018 were reviewed and analyzed. The patient was diagnosed by gene detection and enzymatic activity.@*Results@#The patient is a 4 years and 1 month old boy, mainly presented psychomotor retrogression. His β-galactosidase activity was low (8.0 nmol·g-1·min-1). Two splice site mutations (c.458-2A(IVS4)>G and c.1068+5G(IVS10)>A) of patient′s CLB1 gene were screened by targeted next generation sequencing. The results of Sanger sequencing showed that the mutations are compound heterozygous and both are first reported. The mutation c.1068+5G(IVS10)>A was derived from patient′s mother, and the other one is de nove.@*Conclusion@#GM1 gangliosidosis is a rare neurodegenerative disease, which could be accurately diagnosed by the next generation sequencing and enzyme assay.

Evaluatingthecorrelationbetweenvolumeoftheperipherallungadenocarcinoma andlymphnodemetastasison MSCT / 实用放射学杂志

Objective Todeterminetherelationshipbetweenthetumorvolumeoftheperipherallungadenocarcinomawith maximum diameter≤3cmandlymphnodemetastasis(LNM).Methods TheMSCTmanifestationsof235subjectswhowerediagnosedasperipheral lungadenocarcinomawithmaximumdiameter≤3cm wereretrospectivelyanalyzed.Thesepatientsweregroupedaccordingtodifferent parametersincludingsmokinghistory,differentiation,tumorconsistencyandavailabilityoftumornecrosis.Tumorvolumeandratesof LNMamongthesegroupswerecompared.ROCanalysiswasusedtocalculatethecut-offvalueanddiagnosticaccuracy.Results (1) ThetumorvolumeofLNMgroupwaslargerthanthatofnoLNMgroup,cut-offvaluewas5.5cm3,andAUCwas0.76;(2)Therates ofLNMofthewell,moderate-well,moderate,moderate-poorandpoordifferentiationgroupswere0%,8.7%,17.7%,45.6%and46.7%respectively.Theratesofpuregroundglassopacity(p-GGO),mixedandsolidtumorwere0%,8.3%and29.3%respectively.The ratesofthetumorpresentandabsentofnecrosiswere47.8%,22.0%respectively(P＜0.05).Conclusion Usingthevolumeoftumor on MSCTtopredictLNMisanewnon-invasivewayofassessingLNM,withhighsensitivityandspecificity,whichcouldsupplymore imaginginformationforsurgeonstochoosethewayoflymphnodedissection.

Clinical features and TRPM6 mutations of an infant with hypomagnesemia with secondary hypocalcemia / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and mutations of the TRPM6 gene in an infant featuring hypomagnesemia and secondary hypocalcemia.@*METHODS@#Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Targeted exome sequencing was carried out to screen the potential mutations. Suspected mutations were verified by Sanger sequencing.@*RESULTS@#A novel homozygous c.5538delA (p.Q1846Qfs*2) mutation in the TRPM6 gene was identified in the proband, for which both of her parents were heterozygous carriers.@*CONCLUSION@#The homozygous frameshift mutation of TRPM6 gene (c.5538delA) probably underlies the disease in the proband. The finding has expanded the mutation spectrum of TRPM6 gene.

Clinical and aspartoacylase gene mutation analysis of Canavan disease in a child / 中华神经科杂志

Objective To investigate the clinical and aspartoacylase (ASPA) gene mutation characteristics of Canavan disease.Methods The clinical data of a child with Canavan disease diagnosed by gene detection who visited Children's Hospital Affiliated to Zhengzhou University in June 2018 were reviewed and analyzed.Results A one year and five months old girl presented with psychomotor retrogression,hypermyotonia,and tendon hyperreflexia.The urinary N-acetylaspartic acid levels were significantly higher (66.832 7,more than 60 times that of normal individuals).Magnetic resonance imaging of the brain showed a multiple and symmetrical hyperintense signal changes in the cerebral white matter.Two heterozygous mutations c.79_80del (p.Gly27Arg) and c.554G＞T (p.Gly185Val) were screened by targeted next generation sequencing.The results of Sanger sequencing showed the two mutations were compound heterozygous mutation derived from her father and mother,and the mutation c.554G＞T has never been reported.Conclusions The next generation sequencing can accurately detect ASPA gene mutation as the first choice for the diagnosis of Canavan disease.The mutation c.554G＞T enriches the gene mutation spectrum of Canavan disease.

Expressions of β-catenin and LEF1 in acute leukemia and their correlation / 实用医学杂志

Objective To investigate the expressions of β-catenin and lymphoid enhancer factor 1(LEF1) mRNA in acute leukemia(AL)and their correlation. Methods Real-time PCR was used to examine the expres-sions of β-catenin and LEF1 mRNA in 62 de novo acute myeloid leukemia(AML)patients,23 de novo acute lymphoblastic leukemia(ALL)patients,20 controls and 4 kinds of cell lines:K562,HL-60,THP-1 and Raji. Results The expression level of β-catenin in AML group was significantly higher compared with the control group,but LEF1 mRNA expression in AML group was significantly lower than that in the control group (P <0.05). The expression levels of β-catenin and LEF1 mRNA were all significantly higher in ALL group compared with the control group (P < 0.05). There were significantly positive correlations between β-catenin and LEF1 mRNA expressions both in AML and in ALL groups(P<0.05). Among the three AML cell lines,THP-1 cell had the highest β-catenin mRNA expression and the lowest LEF1 mRNA expression,and the expression tendencies of these two genes in THP-1 cell line were in accordance with those in AML patients. Conclusions Activation of Wnt/β-catenin pathway happends in AL patients and β-catenin/LEF1 may play a role in leukemogenensis of ALL.

Effects of endovascular stent implantation and medical treatment on symptomatic vertebral artery stenosis / 中国综合临床

Objective To investigate the clinical effect of endovascular stent implantation and medical treatment in the treatment of symptomatic vertebral artery stenosis. Methods Eighty patients with symptomatic vertebral artery stenosis admitted from January 2013 to May 2015 in the Department of Neurology of Wuhan Puren Hospital were selected. The patients were randomly divided into the observation group and the control group,with 40 cases in each group. The control group was given aspirin enteric?coated tablets 100 mg/ time,1 time /d,clopidogrel bisulfate bablets 75 mg/ time,1 time /d,atorvastatin calcium 10 mg/ time,1 time/d. The observation group was treated with intravascular stent implantation. After 1 years of follow?up, the degree of vascular stenosis,the occurrence of ischemic cerebrovascular time and the clinical effect of the two groups were compared. Results (1) The stenosis degree of the observation group and the control group before treatment was (72. 81±11. 99)％ and (68. 31±12. 35)％ respectively,after treatment,it was (24. 58±1. 24)％ and (56. 01 ±3. 30)％ respectively. There was no significant difference between the two groups before treatment (t=0. 121,P>0. 05). After treatment,vascular stenosis degree in two groups were significantly improved,compared with that before treatment,the differences were statistically significant (t=0. 790,P<0. 05; t=0. 457,P<0. 05); the degree of vascular stenosis after treatment in the observation group was significantly lower than that in the control group ( t=0. 842,P<0. 05);( 2) during follow?up,the total occurrence rate of ischemic cerebrovascular events in the observation group was 17. 5％ (7/40),compared to 37. 5％ (15/40) in the control group,the difference between the two groups was statistically significant (χ2=4. 065,P<0. 05) . ( 3) At 1 years of follow?up,the total effective rate of the observation group was 97. 5％ ( 39/40) ,while that of the control group was 60％ ( 24/40) , and the difference between the two groups was statistically significant ( P=0. 017) . Conclusion Endovascular stent implantation can effectively improve the clinical efficacy of symptomatic vertebral artery, reduce the incidence of ischemic cerebrovascular time,and improve the degree of vascular stenosis.

Correction study of ketogenic diet adjustment for balance of peripheral blood helper T cell subsets in children with refractory epilepsy / 中华实用儿科临床杂志

Objective To research ketogenic diet(KD) adjustment for the balance of helper T cell subsets in peripheral blood of children with refractory epilepsy (CRE).Methods Forty-two CRE children admitted to Children's Hospital Affiliated to Zhengzhou University from January 2015 to May 2016 were retrospectively analyzed.All the CRE patients were treated with KD,and the data before and after treatment were collected.During the same period,40 healthy children were taken as the healthy control group.The changes of the compositions of helper T cells 17(Thl7),regulatory T cells (Treg) and helper T cells 1 (Th1) in each group were recorded.Meanwhile,m RNA expression of Th17,Treg and Th1 related factors were detected,and plasma levels of inflammatory cytokines were analyzed before and after treatment.Results There were less Treg cells [(1.75 ± 0.53) ％] in children with CRE compared with the healthy control group [(3.97 ± 0.28)％],but more Th1[(12.25 ± 1.03)％] and Th17 cells [(2.89 ±0.68)％]compared with the healthy control group [(7.75 ± 2.42) ％,(1.86 ± 0.57) ％] (t =23.542,11.049,7.415,all P ＜0.05).The mRNA expression of interleukin-17A (IL-17A),gamma-interferon (IFN-γ),in the CRE group before treatment [(2.46 ± 0.75) × 10-4,(1.48 ± 0.64) × 10-2],were significantly higher than those in the healthy control group [(0.91 ±0.24) × 10-4,(0.47 ±0.11) × 10-2].The mRNA expression levels of cytotoxic T lymphocyte associated antigen 4 (CTLA-4) and tumor necrosis factor receptor (GITR) in the pre-treatment group of CRE children[(20.02 ± 6.57) × 10-2;(12.42 ± 6.46) × 10-5] were significantly lower than the healthy control group [(26.57 ± 6.75) × 10-2;(16.31 ± 4.18) × 10-5];the difference was statistically significant (F =4.697,5.232,4.981,3.872,all P ＜ 0.05).After treatment,mRNA expression levels of IL-17A [(1.20 ± 0.44) × 10-4],IFN-γ[(0.7 ±0.41) × 10-2],CTLA-4 [(10.72 ±2.99) × 10-2] and GITR [(6.04 ±2.51) × 10-5] were significantly decreased compared with the level of pre-treatment group [(2.46 ± 0.75) × 10-4,(1.48 ± 0.64) × 10-2,(20.02 ±6.57) × 1 0-2,(12.42 ± 6.46) × 10-5,p ＜ 0.05].The levels of IL-17 A,IFN-γ,Cyclooxygenases-2 (COX-2)and Prostaglandin F2α (PGF2α) in children with CRE the level of pre-treatment group [(26.52 ± 6.17) ng/L,(11.19 ± 3.15) ng/L,(2.14 ± 1.31) ng/L,(205.74 ± 32.30) ng/L] were significantly higher than those in the healthy control group [(13.93 ± 2.98) ng/L,(8.87 ± 1.09) ng/L,(1.04 ± 0.33) ng/L,(109.80 ± 38.74) ng/L](F=5.361,3.987,3.654,11.370,all P ＜ 0.05).The levels of IL-17A [(18.48 ± 6.18) ng/L],IFN-γ[(9.54±1.42) ng/L],COX-2 [(1.46 ±0.72) ng/L] and PGF2α[(126.13±13.07) ng/L]in CRE children were reduced after KD adjustment [(26.52 ± 6.17) ng/L,(1 1.19 ± 3.15) ng/L,(2.14 ± 1.31) ng/L,(205.74 ±32.30) ng/L],and the differences were statistically significant (all P ＜ 0.05).Conclusions KD adjustment may have a beneficial effect on balance of peripheral blood in children with CRE.KD adjustment is positively correlated with the level of factors related to Th cells and inflammatory cytokines.

Quantitative assessment of myocardial microcirculation damage in patients with end-stage renal disease by CMR / 实用放射学杂志

Objective To quantitative evaluate the myocardial microcirculation dysfunction in patients with end-stage renal disease (ESRD),and to provide the imaging characteristic for early detection myocardial dysfunction and microcirculation damage in the ESRD patients after dialysis therapy.Methods Sixty-seven patients with ESRD and 1 9 healthy subj ects were enrolled in our study, and the ESRD patients were divided into two groups including patients with preserved systolic function (n=51,EF≥50%)and patients with impaired systolic function (n=16,EF＜50%).The LV regional myocardial perfusion parameters were analyzed including upslope, time to maximum signal intensity (TTM)and max signal intensity (Max SI).Those continuous variables were compared using one-way analysis of variance (A N OVA )in all three groups.Results Compared with the controls and the ESRD patients with preserved EF,the ESRD patients with impaired EF had a significantly lower SV and markedly increased LV mass (all P＜0.001).For the fist-pass perfusion analysis,first-pass perfusion Max SI of all segments were significantly reduced in the ESRD patients with preserved/impaired EF compared with the normal subjects (all P＜0.05).Compared with the ESRD patients with preserved EF and controls,the ESRD patients with impaired EF had lower upslope in the basal segment (P＜0.05).And the ESRD patients with preserved/impaired EF had shorter TTM in the apical segment than that in normal controls (P＜0.01).Conclusion The CMR first-pass perfusion can detect the myocardial deformation and dysfunction in ESRD patients,the Max SI may be more valuable to early detect myocardial microcirculation dysfunction.

Relationship among somatostatin, neuron-specific enolase and early vascular dementia / 心血管康复医学杂志

Objective: To explore the relationship among somatostatin (SS), neuron-specific enolase (NSE) and early vascular dementia.Methods: A total of 40 patients with early vascular dementia treated in our hospital were selected as vascular dementia group, another 40 inpatients with cerebral infarction (CI) treated during the same period were enrolled as CI group.Plasma NSE and SS levels were compared between two groups during different periods.Results: Compared with CI group at onset, one month and three months after CI, there was significant rise in plasma NSE level[(22.08±7.05) ng/ml vs.(26.39±6.80) ng/ml, (23.92±4.25) ng/ml vs.(28.12±4.06) ng/ml, (25.55±4.72) ng/ml vs.(30.10±4.33) ng/ml], and significant reduction in plasma SS level[(1084.50±133.00) ng/ml vs.(748.30±129.10) ng/ml, (836.40±160.20) ng/ml vs.(624.25±140.50) ng/ml, (690.25±146.30) ng/ml vs.(432.70±151.00) ng/ml]in vascular dementia group, P<0.05 or <0.01.Plasma NSE level gradually rose and SS level gradually reduced along with the time went by(P<0.05 or <0.01).Conclusion: Early dynamic detection of somatostatin and neuron-specific enolase levels in patients with cerebral infarction may help to early diagnosing and treatment of vascular dementia.

Construction and stability of finite element models of distal tibial fractures / 中国组织工程研究

BACKGROUND:Traditional studies on foot and ankle biomechanics have limitation. Ankle joint was complicated and had big range of motion, so it is difficult to establish finite element models and to analyze the type of fracture. OBJECTIVE: To construct the finite element models of distal tibial fractures and analyze the stability. METHODS: CT data of ankle were colected from a normal male volunteer and the three-dimensional reconstruction of volunteer was made by Mimics software, and the effectiveness was verified. The ratio of different joint involvement and height of fracture block were assumed with Solidwork software, and finite element models of distal tibial fractures were established. Fracture stability was analyzed by ANSYS software using finite element method. RESULTS AND CONCLUSION:The distal tibia fracture model was consistent with the relevant literature data, and finite element analysis could be further conducted. The ratio of articular surface involved was positively associated with fragment height and fracture displacement, and negatively associated with fracture stability. These results indicate that the three-dimensional finite element models of distal tibial fractures were successfuly established. Fracture stability was associated with the ratio of articular surface involved and fragment height.

Effect of the area of paries medialis defect on the stability of fracture ends after percutaneous compression plating for femoral intertrochanteric fracture / 中华创伤骨科杂志

Objective To analyze the effect of different areas of paries medialis defect of femoral trochanter on the stability of fracture ends after percutaneous compression plating for femoral intertrochanteric fracture.Methods Thirteen preserved cadaveric specimens of adult femur were used in this experiment.The age of death ranged from 30 to 50 years.Oblique osteotomy was conducted under the same condition using a wire saw to create experimental models of fracture of Evans-Jensen type Ⅳ.The ratios of the area of paries medialis defect to the projected area of lesser trochanter in the specimens 1 to 13 were set respectively as 0,10.0％,14.5％,20.2％,23.4％,30.6％,45.8％,56.8％,76.8％,88.7％,99.8％,121.3％ and 149.4％.All the fractures were fixated by standard percutaneous compression plating.Cyclic load was applied on each specimen using Instron 2000 universal material tester.A vertical load of 600 N was applied for respectively 1,10,100 and 1,000 times to measure the displacements of proximal and distal fracture ends.Results When the ratio of the area of paries medialis defect to the projected area of lesser trochanter was 30.6％,the average displacements of the proximal and distal ends were 0.14 cm and 0.10 cm.When the ratio was 45.8％,the average displacement of the proximal end was 0.53 cm,278.6％ greater than that for 30.6％;the average displacement of the distal end was 0.41 cm,310.0％ greater than that for 30.6％.When the ratio was 149.4％,the average displacement of the proximal end was 0.93 cm,564.3％ greater than that for 30.6％;the average displacement of the distal end was 0.65 cm,550.0％ greater than that for 30.6％.Conclusions When the ratio of the area of paries medialis defect to the projected area of lesser trochanter reaches ＞ 45.8％,the area of paries medialis defect will have a significant effect on the stability of fracture ends after percutaneous compression plating for femoral intertrochanteric fracture.The displacement will increase linearly under the same compression with the increase in defect area.

Evaluation of Dual-source Computed Tomography Angiography from Patients of Congenital Heart Defects with Tetralogy of Fallot Associated with Cardiovascular Malformation / 生物医学工程学杂志

The aim of this study was to clarify characteristics of cardiovascular malformation in patients associated with tetralogy of Fallot (TOF) by using dual-source computed tomography (DSCT) angiography. We retrospectively analyzed DSCT angiography of 99 consecutive patients with TOF. In addition to typical CT features of TOF in all patients, the DSCT angiography showed 27 cases (27.27%) of atrial septal defect, 14 cases (14.14%) of patents ductus arteriosus, 11 cases (11.11%) of bicuspid pulmonary valve, 18 cases (18.18%) of congenital coronary artery malformation, 22 cases (22.22%) of right aortic arch, 12 cases (12.12%) of persistent left superior vena cava, 8 cases (8.08%) of retro-aortic innominate vein and 9 cases (9.09%) of pulmonary venous anomalous. DSCT is capable of displaying anatomical characteristics of cardiovascular malformation in patients with TOF.

Expressions of CDX2 and β-catenin in acute lymphoblastic leukemia and their correlation / 实用医学杂志

Objective To investigate the expressions of CDX2 and β-catenin in acute lymphoblastic leukemia (ALL) and their correlation. Methods Real-time PCR was used to determine the expressions of CDX2 and β-catenin mRNA in 43 de novo ALL and 30 non-malignant patients (used as control). Results The positivity rate of CDX2 mRNA expression in ALL group was 93%, but CDX2 mRNA expression couldn′t be detected in the control group (P<0.01). The mRNA expression of β-catenin could be detected in patients in both two groups, butβ-catenin mRNA expression in the ALL group was significantly higher than in the control group (P < 0.01). And mRNA expressions of CDX2 andβ-catenin were significantly correlated with WBC counts and LDH level (P<0.01). When the ALL patients acquired complete remission (CR), the mRNA expressions of CDX2 and β-catenin were significantly decreased compared with their newly diagnosed status , while disease-relapsed the mRNA expressions of CDX2 andβ-catenin were increased again. There was significantly positive correlation between CDX2 and β-catenin mRNA expressions (r = 0.835, P = 0.000). Conclusion Up-regulation of CDX2 and activation of Wnt/β-catenin pathway coexist in the ALL patients and the mRNA expressions of CDX2 and β-catenin are positively correlated.