1.A Study of Universal Newborn Hearing Screening Combined with Deafness Predisposing Gene Screening in 965 Newborns
Ying WANG ; Bing GUAN ; Shiming YE ; Li XU ; Lingmei CHANG ; Aimin YU
Journal of Audiology and Speech Pathology 2015;(3):248-251
Objective To investigate the clinical significance of universal newborn hearing screening for deaf‐ness predisposing genes in newborns .Methods A total of 965 newborns at Subei Hospital in Yangzhou were taken blood samples at heel and received for deafness predisposing genes screening .The most common deafness genes were detected by gene sequencing ,including mt12SrRNA c .1555A > G ,c .1494C > T ,GJB2 35delG ,167delT ,176_191del16 ,235delC ,299_300delAT ,SLC26A4 281C> T ,589G>A ,IVS7 -2A>G ,1174A> T ,1226G> A ,1229C> T ,IVS15+5G> A ,1975G>C ,2027T > A ,2162C> T ,2168A> G ,GJB3538C> T ,547G> A .At the same time ,all infants received hearing screening .Otoacoustic emission(OAE) was used as the first step screening ,and OAE combined with auto-auditory brainstem response(AABR) detection were used as the second step screening . Results Fifty -three cases (5 .49% ) had partial gene mutation ,one case of 12SrRNA gene mutation ,33 cases of GJB2 gene mutation ,18 cases of SCL26A4 gene mutation ,one case of GJB3 gene mutation .Of 965 cases ,28 cases failed to pass hearing screening while 18 cases did not pass rescreening .There were 10 cases taking audiological di‐agnosis at the age of three months .Six cases were confirmed with hearing loss .There were 905 cases passed thehearing screening and genetic screening ,11 failed born hearing and gene screening .Conclusion That the newborn gene screening was added into the hearing screening can be helpful to find out the deafness predisposing genes and drug -induced or late-onset hearing loss .
2.THE RECEPTOR ROLE OF GLYCOPHORIIN A DURING THE INVASION OF HUMAN ERYTHROCYTE BY PLASMODIUM FALCIPARUM
Shiming ZHANG ; Jianxin LI ; Zhiming YANG ; Yaomei WEI ; Weibin GUAN ; Yuanchang ZHOU ;
Chinese Journal of Parasitology and Parasitic Diseases 1987;0(01):-
The effects of GPA, anti-GPA IgG, ?1acid glycoprotcin (?1-AGP), ovomucoid (OM) and wheat germ agglutinin (WGA) on the invasion of erythrocytes by P. falciparum were obseryed in vitro. GPA, anti-GPA IgG and WGA at low concentrations had obviously inhibitory effects on thc invasion. There were hyperbolic relationships between the concentrations of these inhibitors and their inhibition rates. OM, ?1-AGP and non-spccific anti-serum had no obvious effect on the invasion. It is confirmed for the first time from the biological characteristics of receptor-ligand interaction that thc combination of GPA with P. falciparum merozoites has high spccificity, high affinity with a tendency to sa-turation and can produce specific biological effects.
3.Prognostic factors of patients with T2N0M0 upper tract urothelial carcinoma:a single-center retrospective study of 235 patients
Bao GUAN ; Zhenpeng CAO ; Ding PENG ; Yifan LI ; Yonghao ZHAN ; Libo LIU ; Shiming HE ; Gengyan XIONG ; Xuesong LI ; Liqun ZHOU
Journal of Peking University(Health Sciences) 2017;49(4):603-607
Objective: To evaluate the impacts of the prognostic factors of T2N0M0 upper tract urothelial carcinoma (UTUC) for Chinese patients.Methods: A retrospective study was conducted including 235 patients who were diagnosed with T2N0M0 UTUC in our hospital and received radical nephroureterectomy (RNU) or partial ureterectomy during January 2000 and December 2013.The 3 and 5-year can-cer-specific survival rates and bladder recurrence-free survival rates of all the patients were valued using Kaplan-Meier method, and the survival curves with statistical significance between the two were compared using the Log-rank test.Variables with significant differences in the univariate analysis were subjected to the multivariate analysis by Cox regression model.Results: A total of 235 patients were included in this study, including 95 (40.4%) male patients and 140 (59.6%) female patients.The mean age was 66.73±10.49 years.The median follow-up time was 53 (rang: 3-142) months, and during the follow-up, 74 (31.5%) patients died of UTUC after a median of 35 months,and 96 (40.9%) patients developed intravesical recurrence after a median of 19.5 months.The 3 and 5-year cancer-specific survival rates of all the patients were 89.1% and 85.9%, respectively;the bladder recurrence-free survival rates were 85.5% and 80.2%, respectively.The independent prognostic factors of cancer-specific mortality were tumor age elder than 55 years (HR=3.138, 95%CI: 1.348-7.306, P=0.008) and diameter larger than 5 cm (HR=3.320, 95%CI: 1.882-5.857, P<0.001).The independent prognostic factors of bladder recurrence-free survival were ureter tumor (HR=1.757, 95%CI: 1.159-2.664, P=0.008) and lower tumor grade (HR=1.760, 95% CI: 1.151-2.692, P=0.009).Conclusion: T2N0M0 UTUC has a better cancer-specific survival.The intravesical recurrence was equivalent to non-muscle invasive UTUC but earlier.The tumor diameter larger than 5 cm and the patient age elder than 55 years were independently associated with cancer-specific mortality;the primary tumor located in ureter and lower tumor grade were more likely to develop intravesical recurrence.
4.Preoperative "second eye" ultrosound guided orientation in non-palpable breast lesions surgery
Qing LV ; Li KANG ; Chunlei SUN ; Shiming GUAN
Chinese Journal of Endocrine Surgery 2020;14(5):378-380
Objective:To investigate clinical application of preoperative "second eye" ultrosound guided orientation in non-palpable breast lesions surgery.Methods:100 patients were involved in the present study, with 136 impalpable breast lesions. Patients were divided into treatment group and control group by using random number table method. Patients of the control group were operated according to the preoperative ultrasonic location alone, while lesions of patients from the treatment group were located not only by preoperative surface location, but also by the "second eye" ultrasonic examination performed by surgeons. Volume of resected specimen and the operation time and the average length of incision were observed and compared between the two groups.Results:All lesions were completely resected. The average operation time of the treatment and control groups was 20 minutes vs 28 minutes ( P<0.05) , the average volume of resected specimens was 3.0 ml vs 4.1 ml ( P<0.05) , and the average length of incision was 25 mm vs 30 mm ( P=0.21) . Conclusions:It is an accurate, safe and effective method to remove clinical non-palpable breast lesions by the "second eye" ultrasound operated immediately before the surgery. It can obviously shorten the operation time, precisely remove the specimen, and reduce damage to normal tissues. In clinical practice, breast ultrasonic characteristics are recommended to be mastered by surgeons so that it could be helpful to the surgery.
5.Ultrasonographic features and pathological diagnosis of breast disease with ultrasound classification as BI-RADS 4a
Qing LV ; Shiming GUAN ; Yuwen YU ; Li KANG
Chinese Journal of Endocrine Surgery 2019;13(5):404-407
Objective To summarize the characteristics of BI-RADS 4a breast diseases under ultrasonic examination referring to patients' clinical data and pathological reports.Methods 82 patients who were firstlydiagnosed and treated in the Affiliated Hospital of Jiangnan University were included.The ultrasonograms were retrospectively reviewed along with the correlated pathological and clinical findings.Results 48 (58.5%) cases were benign,among which fibroadenoma was the most common.34 cases (41.4%) were malignant,among which invasive ductal carcinoma was the most common.68 of the 82 cases were neoplastic disease (82.9%),6 (9.8%)were inflammatory disease,and 8(7.3%) were adenosis.Conclusions The patients who are graded BI-RADS 4a by ultrasonic examination may have completely different diseases.Beyond the most common benign diseases,few of them are malignancies with atypical,even ambiguous sonographic features.Therefore,in clinical practice,sonologists should set appropriate parameters of ultrasonic devices appropriately,and evaluate the sonographic features carefully,in order to make the correct grading and diagnosis.While for clinicians,it is necessary to learn to read the ultrasonographic features along with patients' manifestations,and finally reduce the misdiagosis and missed diagnosis of such diseases.
6.Quantitative evaluation of the diffusion characteristics of calf muscles in type 2 diabetic mellitus patients by diffusion tensor imaging
Yunlei FU ; Shiming GUAN ; Huihui QI ; Jing GU ; Wei LI ; Zhuiyang ZHANG
Chinese Journal of Nuclear Medicine and Molecular Imaging 2020;40(12):716-720
Objective:To explore the quantitative analysis value of diffusion tensor imaging (DTI) for early changes of calf muscle in type 2 diabetes mellitus (T2DM) patients without peripheral ischemia.Methods:From September 2018 to March 2019, 20 male T2DM patients (age: 45-64 years) without peripheral ischemia and 20 matched male healthy controls (age: 46-62 years) who performed lower limb DTI in Wuxi Second Hospital Affiliated to Nanjing Medical University were prospectively analyzed. Fractional anisotropy (FA), apparent diffusion coefficient (ADC) and λ 1, λ 2, λ 3 values of medial head of gastrocnemius (GM), lateral head of gastrocnemius (GL), tibialis anterior(TA) and soleus muscles(SOL) were measured respectively. The differences of DTI diffusion characteristics between 2 groups were compared by using independent-sample t test, and the correlation between FA, ADC and body mass index (BMI), fasting blood glucose (FBG), hemoglobin A 1c (HbA1c), high density lipoprotein (HDL), low density lipoprotein (LDL) and triglyceride (TG) were analyzed by Pearson correlation analysis. Results:The ADC of TA and SOL in T2DM group ((1.77±0.15) and (1.83±0.10)×10 -3 mm 2/s) was higher than that in control group ((1.66±0.11) and (1.75±0.16)×10 -3 mm 2/s); λ 1, λ 2, and λ 3 of TA in the T2DM group ((2.30±0.21), (1.63±0.17) and (1.38±0.13)×10 -3 mm 2/s) were higher than those in control group ((2.17±0.12), (1.51±0.13) and (1.31±0.12)×10 -3 mm 2/s); λ 2 and λ 3 of SOL were also higher than those in control group ((1.74±0.11) vs (1.64±0.18)×10 -3 mm 2/s and (1.53±0.12) vs (1.44±0.15)×10 -3 mm 2/s; t values: 2.65-3.91, all P<0.05). There were no significant correlations between FA, ADC and BMI, FBG, HbA1c, HDL, LDL and TG ( r values: from -0.15 to 0.08, all P>0.05). Conclusions:Quantitative parameters of DTI, especially ADC, can sensitively detect the microstructural changes of calf muscle in T2DM patients without peripheral ischemia. TA and SOL have high sensitivity to the diffusion of T2DM-related microstructural changes.
7.Muscle-invasive upper tract urothelial carcinoma predicts invasive bladder recurrence tumor
Bao GUAN ; Zhenpeng CAO ; Ding PENG ; Yifan LI ; Yonghao ZHAN ; Shiming HE ; Yanqing GONG ; Dong FANG ; Lei ZHANG
Chinese Journal of Urology 2017;38(12):896-900
Objective To evaluate the risk factors and prognosis of high risk bladder recurrence developing after radical nephroureterectomy(RNU) for upper tract urothelial carcinoma (UTUC).Methods The data of 148 UTUC patients who developed bladder tumor after RNU between January 2000 and December 2013 was retrospectively studied.There were 69 males and 79 females,aged from 34 to 82 years old (average 68 years old).83 patients were accompanied with hydronephrosis.80 patients were renal pelvic carcinoma.32 patients had the history of smoking.24 patients had the history of ureteroscope.68 patients had the tumor larger than 3 cm.Logistic regression model was used to analyze the risk factors of muscle invasive and high grade bladder recurrence lesions.We compared the clinocopathologic characteristics between primary UTUC and bladder cancer recurrence by using Fisher' s exact test.Cancer specific survival was analyzed using the Kaplan-Meier method,with the log-rank test used to assess significance.A Cox proportional hazard model was used for multivariate analysis.Results Of the 148 patients,non-muscle invasive (Tis、Ta and T1) tumors of primary UTUC and bladder recurrence were 51 (34.5%) and 119 (80.4%),respectively.High grade (G3) tumors of primary UTUC and bladder recurrence were 41 (27.7%) and 53(35.8%),respectively.During follow-up,94 (63.5%) experienced bladder recurrence once and 54 (36.5%) experienced multiple bladder recurrence.The median follow-up time was 59.5 (rang 8-142) months,48 (32.4%) patients died of UTUC.The grade of bladder cancer recurrence correlated with the grade (P =0.046),muscle-invasion (P =0.002) and tumor architecture (P =0.034) of the primary UTUC;muscle-invasive bladder cancer recurrence associated with that of the primary UTUC (P =0.009);bladder multiple recurrence related to gender (P =0.007).On multivariate logistic regression analysis,the muscle-invasion of primary UTUC was an independent risk factor for muscle-invasive (HR =5.512,95% CI 1.654-18.37,P =0.004) and high grade (HR =3.948,95% CI 1.589-9.813,P =0.004) bladder recurrence tumor.The muscle invasion of primary UTUC (HR =3.498,95% CI 1.569-7.803,P =0.002) was a prognostic factor for cancer specific survival on multivariate Cox regression analysis.Conclusions Muscle-invasive UTUC tend to predict high risk bladder recurrence tumor,and the female could be more likely to appear multiple recurrence tumor.The muscle invasion of primary UTUC could be an independent prognostic factor for cancer specific survival.