17.The abnormal results of METLP were found in 6(100%) patients with other myopathy.Most of them showed a high concentration of lactic acid post-aerobic exercise(L2),and sustainable to after rest,or even more higher(L3).3(21.4%)patients without myopathy showed abnormal results of METLP.Conclusions In all the indexes of METLP,the value of L2/P1 is the reliable index for diagnosis mitochondrial myopathy or no-myopathy;the value of L3/L2 is the most important index in differential diagnosis of mitochondrial myopathy and other myopathy.METLP plays a certain role in the diagnosis of the mitochondrial myopathy,but the clinical and pathological data ought to be combined.

Objective To evaluate the relationship between emergency department length of stay (EDLOS) and outcome of multiple trauma patients in ICU.Methods A retrospective cohort study was performed in multiple trauma patients admitted from the emergency department to ICU during 2010.Patients' data were recorded,including demographic information (gender,age,etc.),characteristics of injury (injury causes,diagnosis,ISS,GCS,emergency operation rate,type of operation),and outcome (inhospital mortality,length of ICU stay,total length of hospital stay,expenditure).Patients were assorted into delayed group (EDLOS ＞ 6 h) and non-delayed group (EDLOS ≤ 6 h),then demographic information,characteristics of injury,and outcome were compared between the two groups.Multivariate Logistic and linear regression analyses were performed to identify the correlation between EDLOS and outcome for all patients and for those with and without emergency operation.Results A total of 476 patients aged (47.5 ± 16.0) years were enrolled in the study and male patients accounted for 73.5％.Median ISS was 29 points (interquartile range,22-34 points),median EDLOS was 4.0 hours (interquartile range,2.8-6.4 hours),and inhospital mortality was 9.2％.Delayed (n =135) and non-delayed (n =341) groups were similar in age,gender,ISS,inhospital mortality (13.3％ vs 7.6％),length of ICU stay,and total length of hospital stay (P ＞ 0.05).Multivariate analysis demonstrated prolonged EDLOS increased inhospital mortality (OR=3.19,95％ CI 1.28-7.95,P ＜ 0.05),especially in patients without emergent operation (OR =4.01,95％ CI 1.31-12.27,P ＜ 0.05).However,prolonged EDLOS produced no effect on mortality in patients with emergent operation (OR =1.72,95％ CI 0.79-3.43,P ＞0.05),length of ICU stay,total length of hospital stay,and expenditure.Conclusion Prolonged EDLOS increases mortality of multiple trauma patients admitted to ICU,especially in patients without emergency operation,thus rapid transportation of these patients from emergency room to ICU will improve the outcome.

Objective To investigate the value of interphase fluorescence in situ hybridization(FISH)technique and the detection of fusion gene in the diagnosis of acute myeloid leukemia(AML)M2 and M3 Methods FISH was used to detect the AML1/ETO fusion gene and/or PML/RARα fusion gene in incipient cases including 9 AML-M2, 12 AML-M3 and 10 AML undetermined as AML-M2 or AML-M3 primarily diagnosed by routine morphology though bone marrow,cytochemical staining and immunophenotyping,which can help diagnose and guide clinical therapy.Results 4 of 9 AML-M2 cases were AML1/ETO positive.Among 12 AML-M3 cases,10 were PML/RARα positive.1 case was detected AML1/ETO fusion gene.In 10 untonfirmed M3 or M2,3 case8 showed AML1/ETO,5 showed PMIJRARot fusion gene and the rest showed neither of the genes.Conclusion As a new technique of the molecular genetics,FISH is accurate, rapid and efficient.It would be of significance not only at diagnosis of AML,but also for subsequent clinical decision-making.

ObjectiveTo explore the clinical features and factors inlfuencing the prognosis of childhood non-Hodgkin's lymphoma (NHL).MethodsPathologically diagnosed 78 pediatric patients with NHL and treated in the Afifliated Hospital of Qingdao University from January 2004 to August 2013 were collected and analyzed. Patients were grouped according to age, sex, tumor size, immunologic classiifcation, B-symptoms, LDH, hemoglobin and clinical staging. The 5-years event-free survival rate (EFS) were calculated and analyzed by Kaplan-Meier method, and the difference of the survival rate between groups were com-pared. Using Cox proportional hazards model, we analyzed the possible factors that might inlfuence 5-years event-free survival rate EFS , such as age and clinical staging. TheOR value and the 95%CI were calculated.ResultsAmong the 78 cases, median age of onset is 7 years old, male to female ratio is 2.90:1, there are 25 cases of T-cell type and 53 cases of B-cell type. According to pathological types,Burkitt lymphoma is the most common (34.6%), followed by T-lymphoblastic lymphoma (20.5%), diffuse large B-cell lymphoma (11.5%). According to the St. Jude malignant lymphoma staging system, there are 2 cases in stage I, 9 in stageⅡ, 35 in stageⅢ and 32 in stageⅣ. Swelling of periphery lymph node (80.7%) was observed as initial symptom in 26 cases of lymphoblastic lymphoma. Among 45 cases of mature B-cell tumor, the main clinical feature including abdominal cavity and gingival were observed in 27 cases of Burkitt lymphoma. Among the 73 cases received treatments, 66 cases (90.5%) attained CR (complete remission) and 4 cases (5.5%) attained PR (partial remission) by cytology and radiographic assessment after two course of combined chemotherapy, 2 cases (2.7%) rapidly relapsed after the remisson of one course treatment, 1 case (1.3%) appeared the central nervous system inifltration in the chemotherapy. With median follow-up time of 42 months, the 5-year EFS of the 73 cases was (67.0+5.5)%. Single factor analysis showed that B-symptom, LDH, and clinical staging were signiifcantly correlated with prognosis (P<0.05), while age, sex, tumor size, hemoglobin and immune classiifcation was independent of prog-nosis (P>0.05). Multiple factor analysis showed that LDH and clinical staging inlfuenced the prognosis (OR=3.34,95%CI 2.275?10.683,P<0.01;OR=4.354,95%CI 1.519?12.475,P<0.01) .Conclusionclinical features of childhood NHL are variable. LDH and clinical staging at primary diagnosis are important factors affecting the prognosis.

ObjectiveToinvestigatethecorrelationbetweenbloodpressurevariabilityandcognitive impairment in ischemic stroke. Methods The inpatients with acute ischemic stroke were enroled. The demographic and clinical data were colected. The coefficient of variation of blood pressure within 7 days after onset w as calculated. Montreal Cognitive Assessment w as used to evaluate the cognitive function at three month after onset. Multivariate logistic regression analysis w as used to identify the relationship betw een the coefficient of variation of blood pressure w ithin 7 days and the cognitive impairment at 3 months after onset. Results A total of 708 patients w ith acute ischemic stroke w ere enrol ed in the study. At 3-month folow-up, 510 patients (72.0%) had cognitive impairment and 198 (28.0%) had normal cognitive function. The coefficient of variation for systolic blood pressure ( 8.3 ±1.2 vs.8.7 ±1.4; t= -3.299, P=0.001) and coefficient of variation for diastolic blood pressure ( 7.8 ±1.3 vs.8.0 ±1.5; t= -2.529, P=0.012) in the cognitive impairment group w ere significantly higher than those in the normal cognitive function group. With the first quintile as a reference, after adjusting other confounding factors, multivariate logistic regression analysis show ed that cognitive impairment at 3 months after onset w as significantly associated w ith coefficient of variation for systolic blood pressure. The odds ratios and 95 % confidence intervals for the 2-5 quantile groups w ere 2.33 (1.18-4.6), 2.31 (1.15-4.66), 2.70 (1.29-5.65), and 4.82 (1.92-12.1), respectively ( al P<0.05 ). Conclusion Systolic blood pressure variability in the acute phase of ischemic stroke is associated w ith cognitive impairment.

Objective:Based on Braden scale, combined with local skin temperature and local tissue oxygen saturation as microcirculation indicators, to construct a pressure injury risk prognosis model for severe trauma patients, and develop a visual nomogram.Methods:All the trauma patients in the Emergency Intensive Care Unit (EICU) of a tertiary hospital in Zhejiang Province from June 1, 2020 to August 31, 2020 were selected. The Braden scale was used to assess the risk of pressure injury in the patient and measure the patient’s sacral injury. The skin temperature and blood oxygen saturation at the pressure site were used as indicators for microcirculation evaluation. Multivariate Logistic regression was used to construct a prognostic model and visual nomogram for severe trauma patients with stress injury based on Braden score combined with microcirculation evaluation indicators, and compared with the prediction model constructed by the Braden scale alone. The discrimination degree was judged by the area under the receiver operating characteristic curve. The C index performed internal verification of the model, H-L goodness-of-fit test, and the overall discrimination index to observe and predict the effect of the model.Results:A total of 152 patients were enrolled in this study, of which 33 (21.71%) had pressure injuries. The area under the curve of the Braden scale combined with local skin temperature and local tissue oxygen saturation was 0.866, and the internal verification C index of the model was 0.847. The H-L goodness of fit test result was 8.37 ( P=0.051), indicating that the model had good discrimination and consistency. The overall discrimination index of the model was 0.144 ( P=0.023). Conclusions:The Braden scale combined with local microcirculation indicators to construct a prognostic model of stress injury in severe trauma patients has good discrimination and consistency, and the predictive power of the Braden scale is improved by 14.4%. The construction of a nomogram can provide clinical rapid convenient and reliable forecasting tool.

Objective:To explore the pathogenic variants of a family with syndromic deafness by high-throughput sequencing.Methods:The family was from Puyang City, Henan Province, and had four members, including two with syndromic deafness. The proband and his sister had congenital deafness, and their parents had normal phenotypes. The clinical phenotype of the family was characterized using clinical examinations and pedigree analysis. The clinical examinations included imaging examination, audiometry (pure tone audiometry, acoustic immittance, brainstem auditory evoked potential, and otoacoustic emission), vestibular function test, and ophthalmic examination (visual acuity test, visual field test, fundus examination, visual evoked potential, and electroretinogram). Target exome sequencing of 129 known deafness genes and bioinformatics analysis were used to screen suspected pathogenic variants. Sanger sequencing and minigene assay were used to verify and functionally investigate the mutation detected, respectively. According to the standards and guidelines for interpreting genetic variants proposed by the American College of Medical Genetics and Genomics, the variants c.6049G>A and c.8699A>G were classified as pathogenic/likely pathogenic, and the variant c.9856C>G was classified as variants of uncertain significance.Results:The probands and his sister had severe sensorineural hearing loss with decreased binocular vision, night blindness, decreased peripheral visual field sensitivity and partial visual field defect, and normal vestibular function. Both of them had three CDH23 mutations, including CDH23 (NM_022124.5) c.6049G>A (p.Gly2017Ser),c.9856C>G (p.His3286Asp), and c.8699A>G (p. Asp2900Gly), The first two were inherited from the father, and the last one was from the mother. The missense variants c.9856C>G and c.8699A>G were not included in the gnomad database. The missense mutation c.6049G>A was located in the last position of exon 46 and was predicted to affect splicing by bioinformatics software. The minigene experiment showed that the mutation cause exon skipping of exon 46, resulting in an abnormal protein. Conclusions:Compound heterozygous variations of the CDH23 are the leading cause of USH1D in the family. This study confirms that the compound heterozygosity of splicing and missense variants of the CDH23 gene could lead to USH1D.

AIM:To evaluate the effectiveness of heparin-binding protein(HBP)in combination with organ function indicators for early diagnosis and prognosis prediction in patients with severe trauma complicated with sepsis.METHODS:A retrospective analysis was conducted on 184 patients with multiple injuries who were admitted to the Emergency Medicine Department of the Second Affiliated Hospital of Zhejiang University Medical College between January 2019 and September 2020 and underwent HBP testing.Patients were classified according to the SEPSIS 3.0 diagnostic cri-teria into a sepsis group(n=89)and a non-sepsis group(n=95).Clinical outcomes were tracked,dividing patients into a deceased group(n=43)and a survival group(n=141).HBP levels were continuously measured,and the peak values of the two groups were compared to assess the efficacy of diagnosing sepsis.Further analysis on the correlation of HBP peak value median with clinical prognosis was conducted.The effectiveness of HBP alone and in combination with total biliru-bin(TBil)and white blood cell(WBC)count in prognosis assessment was evaluated.RESULTS:(1)No significant dif-ference was found in the peak level of HBP between the sepsis group(n=89)and the non-sepsis group(n=95)(71.7±68.6 vs 52.5±56.1,P=0.051).(2)Among the 184 patients,the peak level of HBP was positively correlated with WBC count(r=0.244,P<0.01)and TBil levels(r=0.241,P<0.01).(3)The area under curve(AUC)for independent diag-nosis of sepsis using TBil levels,WBC count,and PCT levels were 0.618,0.631,and 0.718,respectively,and the com-bined AUC was 0.684,with a diagnostic sensitivity of 60.7%and specificity of 71.6%(P<0.05).(4)Prognostic analy-sis of mortality showed that patients in the high HBP level group had a significantly higher mortality rate than those in the low-level group(30.4%vs 16.3%,P<0.05).The WBC count was also significantly higher in the deceased group than in the survival group(17.5±6.9 vs 12.8±4.7,P<0.01),especially in those with sepsis(P<0.01).The AUCs for predict-ing sepsis mortality prognosis using HBP peak level,TBil levels,WBC count,SOFA score,and APACHE-II score were 0.618,0.603,0.719,0.823,and 0.811,respectively.The combined AUC of HBP with TBil and WBC for assessing sepsis prognosis was 0.750,with a sensitivity of 74.4%and specificity of 74.5%,showing statistically significant differ-ences(P<0.05).(5)The combined assessment of these three indicators showed no statistically significant difference from artificial scoring systems in predicting sepsis prognosis(P>0.05).CONCLUSION:The combination of HBP,TBil,and WBC is highly effective in predicting the risk of sepsis in patients with multiple injuries and has significant clinical value in predicting the mortality risk of trauma patients with sepsis.

Objective:To explore the risk factors for early trauma-induced coagulopathy (TIC) following severe trauma in the elderly patients.Methods:A case-control study was used to analyze the clinical data of 317 elderly patients with severe trauma admitted to Second Affiliated Hospital of Zhejiang University School of Medicine between February 2015 and November 2020. There were 212 males and 105 females, aged 65-96 years [(72.6±6.8)years]. The patients were divided into TIC group ( n=32) and non-TIC group ( n=285) using the international normalised ratio (INR)>1.5 as the reference standard. Sex, age, trauma sites, injury severity score (ISS), Glasgow coma scale (GCS), first body temperature on admission, shock index(SI), first laboratory results of arterial blood gas, routine blood and coagulation, blood transfusion, usage of blood product, hospitalization days and clinical outcomes were compared between the two groups. Univariate and multivariate Logistic regression analysis were used to identify the risk factors for early TIC in patients with severe trauma. Results:Differences in sex, age, injuries to the face, chest and abdomen, GCS, first body temperature and hospitalization days were not statistically significant between the two groups (all P>0.05). The two groups showed statistical differences in the ratio of injuries to head, neck and extremities, ISS, SI, pH value, base excess (BE), lactate, hemoglobin (Hb), platelet (PLT) count (first detection, lowest level), activated partial thromboplastin time (APTT), thrombin time (TT), plasma fibrinogen (FIB), blood transfusion and usage of blood product and clinical outcomes (all P<0.05). According to the univariate analysis, injuries to the head, neck and extremities, ISS, first body temperature, SI, pH value, BE, lactate, Hb, PLT, APTT, TT and FIB were correlated with the occurrence of early TIC (all P<0.05). Multiple Logistic regressions analysis showed that SI ( OR=1.54, 95% CI 1.10-2.17, P<0.05), PLT ( OR=0.67, 95% CI 0.49-0.91, P<0.05) and FIB ( OR=0.56, 95% CI 0.40-0.78, P<0.01) were significantly correlated with the occurrence of early TIC. Conclusion:For elderly patients with severe trauma, higher SI, lower PLT count and lower concentration of FIB are independent risk factors for the incidence of early TIC.

The number of elderly trauma patients is increasing each year, leading to a higher risk of various coagulation disorders such as traumatic coagulation disease(TIC). Additionally, venous thrombosis(VTE)is a common complication during treatment for trauma patients, further impacting the treatment strategy and prognosis of elderly trauma patients.However, the mechanism of traumatic coagulation disorder is not fully understood, and there is limited research on the pathophysiological process and correlation between TIC and VTE formation.This article reviewed relevant studies on the coagulation status, pathogenesis, and treatment of TIC and VTE in elderly trauma patients, providing a foundation for the prevention and treatment of thrombosis in this population.