Objective:This study aimed to analyze the prognostic factor of bilateral hydronephrosis caused by advanced cervical cancer and evaluate its value of treatment. Methods:A total of 40 patients with bilateral ureteral obstruction secondary to cervical cancer were diagnosed through computerized tomography, radioactive nephrogram, and blood tests for renal function. The placement of retrograde internal double-J ureteral stents was performed under a cystoscope in 13 patients. The placement of antegrade internal double-J ureteral stents via percutaneous nephrostomy was performed in 25 patients. Two cases had external ureteral stents via percutaneous nephrostomy. Twenty-nine patients underwent radiotherapy after normalization of their blood urine nitrogen and creatinine levels. The prognostic value of the treatment and renal function before placement of ureteral stents and radiotherapy after placement of ureteral stents were analyzed. Results:The normalization rate of renal function after ureteral stenting was 91.3%(21/23). The median survival time was longer in patients with untreated cervical cancer than that in patients with recurrent cervical cancer (χ2=9.379, P=0.009). After ureteral stenting, the median survival time was longer in patients who underwent radiation therapy than that in patients untreated with radiation (χ2=17.329, P=0.000). The median survival time was not significantly influenced by renal function before placement of ureteral stents (χ2=1.37, P=0.242). Conclusion:The patient with bilateral ureteral obstruction from untreated cervical cancer or from recurrent pelvic disease after surgical therapy should be considered for ureteral stenting followed by appropriate radiation.

Objective To investigate the clinical effect of using leukocyte filter to prevent nonhemolytic febrile transfusion reactions(NHFTR) in hematologic patients who were trarisfused erythrocyte suspension. Methods Select 720 inpatients need erythrocyte transfusion and have transfusion records. The patients were randomly divided into investigation group and control group. We made a routine examination and recorded the patients' body temperature, heart rate, blood pressure, respiration rate and transfusion adverse reaction before and after erythrocyte suspeusion transfusion. Results Before blood transfusion, the body temperature of patients between two groups were normal, but after blood transfusion, there were 35 patients with NHFTR in the control group, while only 5 cases in the investigation group which used leucocyte filter, the difference between two groups is significant( P＜0.01 ). The change of the patients' body temperature were compared between two groups before and after transfusion, the changes in the control group was significantly higher than the investigation group( P＜0.01 ). Compared the changes of serum total bilirubin level in all patients before and after transfusion,there was no difference in both groups. The incidence of NHFTR increased with increasing of the transfusion times, but compared with the investigation group,the incidence of the control group was higher significantly(P＜0.01 ). Conclusion Leukocyte filter can prevent the occurring of NHFTR efficiently, enhance the quality of transfusion,guarantee the blood transfusion safety.

Objective To evaluate reliability and validity the Chinese-version of chronic pain acceptance questionnaire-8(CPAQ-8).Methods The reliability and validity of CPAQ-8 was tested in 223 old patients with chronic pain.Result The Chinese-version of CPAQ-8 was (23.79±-5.23),AE was (12.84±4.96),PW was(10.97 ±2.90).Cronbach' s of CPAQ-8 was 0.853,and Guttmann Split-Half Coefficient was 0.843.Two factors were extracted by factor analysis through exploratory factor analysis,whose cumulative contribution was 58.217％.While confirmatory factor analysis showed probability level of the modified model was P=0.322,with indexes as follows: x2/df =1.124,GFI =0.979,AGFI =0,956,TLI =0.069,RMSEA =0.024,NFI =0.960,TLI =0.992,CFI =0.995.Conclusion Reliability and validity of CPAQ-8 were both well.

Objective To investigate work stress state of nursing home staff and to analyze the influential factors affecting work stress.Methods Stratified random sampling method was adopted to investigate 180 nursing assistants by self-designed questionnaire,Work Stress Scale(WSS),Simplified Coping Style Questionnaire and internal-external locus of control scale investigation.Results Totally 174 valid questionnaires were collected.Variance analysis revealed there were significant differences of age and other factors.Stepwise multiple regression analysis showed five variables entered the equation,including workexpenence education level number of the cared ages work scheduline coping stule and explain 56.7％ of the total variable.Conclusion Nurse managers should pay attention to and improve achievement sense and mental adjustment ability of nursing assistants,to build a well-organized support system to reduce the workload.

Objective To identify the genetic mechanism of fetuses with short limbs deformity.Methods From Aug.2008 to Aug.2011,ten fetuses with obvious short limbs were found in ultrasound screening performed at 18-24 and (or) 30-32 gestational weeks and underwent artificial induced labor with the patient' consent.Amniotic fluid or cord blood of the fetuses was collected for karyotyping analysis and detection of mutation point of fibroblast growth factor receptor 3 (FGFR3)gene by polymerase chain reaction and gene sequencing.One fetus (case 3) who presented with achondrogenesis underwent sequencing of SLC26A2 and Trip11 gene meanwhile.Results Among the 10 fetuses with short limbs deformity,five cases were found during second trimester and five during third trimester.Nine cases were identified as normal karyotype and one was chimera (46,XY/45,XY,- 18).One fetus carried a rare FGFR3 mutation of c.1108G＞T (G370C) and was diagnosed as thanatophoric dysplasia at 21+3 weeks.Three fetus carried c.1138G＞A (G380R) mutation and were diagnosed as achondroplasia.These four families had low recurrent risk because no gene mutations were found in the parents.Three mothers of these four fetuses were pregnant again and had normal neonates now.No mutations were found in all gene sequencing in case 3.Conclusions Karyotyping analysis and sequencing of FGFR3 gene could find causative gene mutations and provide genetic counselling and prenatal diagnosis for some fetuses with short limbs deformity.In the third trimester,achondroplasia is the most possible diagnosis when short limbs fetus is found by ultrasound.

Objective To establish the genetic test technique of trisomy 21 concurrently conducts with prenatal diagnosis for hereditary hearing loss. Methods Fifty-four pregnant women who underwent prenatal diagnosis for hearing loss of their fetuses in Chinese People's Liberation Army General Hospital from March 2009 to May 2010 were enrolled in this study. All probands from the deaf families have confirmed the causative mutation for hearing loss in Genetic Testing Center in Chinese People's Liberation Army General Hospital. The mean age of 54 pregnant women is 31 years at pregnancy of 18 - 26 weeks, 5 cases ＞ pregnancy of 23 weeks, 9 cases ≥ 35 years. All subjects did not conduct the serologic tests for trisomy 21before. Fifteen to twenty ml amniotic fluid was drawn from 49 cases at pregnancy of 18 - 23 weeks and 5 cases ＞ pregnancy of 23 weeks. One to two ml umbilical blood was drawn from 5 cases ＞ pregnancy of 23 weeks. For 9 cases ≥ 35 years, amniotic fluid cell culture and karyotyping analysis were conducted concurrently. A multiple quantitative fluorescent ( QF) PCR and six microsatellite markers were applied to as trisomy 21. Results (1) Fifty-four fetuses were successfully conducted prenatal genetic diagnosis for hearing loss (included GJB2 and SLC26A4). Ten fetuses copied the exactly same genotypes as the probands. The other 44 cases fetuses did not copy the same genotypes as the probands and won't develop hearing loss. The hearing test showed normal hearing for the neonates. (2) All the 54 fetuses were excluded of trisomy 21 by QF-PCR and were verified after birth. Five fetuses with advanced maternal age were performed karyotyping analysis and showed normal. The diagnostic results of QF-PCR can be obtained in 1 - 3 days without misdiagnosed. Conclusions QF-PCR is an efficient, rapid and accurate technique for detection of trisomy 21 without increasing sample amount. It can be used for fetuses who were undertaken hearing loss gene test or other prenatal gene test.

AIM: To detect the mRNA and protein level of HIF-1 alpha in the tissues of rat's radiated mucosa. METHODS: The left buccal mucosa was irradiated and excised. The right buccal mucosa was excised to serve as own control tissue. The mRNA of HIF-1 alpha was determined by using the semi quantitative RT-PCR. SABC method was employed to immunostain and to elucidate the localization, intensity and distribution of HIF-1 alpha protein.RESULTS: A Sprague-Dawley rat's model of radiation-induced oral mucositis (ROM) was successfully established. The results of RT-PCR indicated that the left buccal mucosa expressed HIF-1 alpha mRNA while the right buccal mucosa did not or seldom expressed it. Immunohistochemical analysis of HIF-1 alpha demonstrated that the left side mucosa expressed HIF-1 alpha protein.CONCLUSION: The mucosa of ROM expresses the mRNA and protein of HIF-1 alpha. The expressions of HIF-1 alpha are correlated with the severity of ROM.

Objective:To investigate the clinical and genetic features of 3-methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome(MEGDHEL syndrome) caused by SERAC1 gene variation. Methods:This study retrospectively described the clinical and molecular features and prognosis of a baby boy who was transferred to Children's Hospital of Fudan University and later diagnosed with MEGDHEL syndrome in August 2016. A summary of the clinical and genetic manifestations of MEGDHEL syndrome cases reported in China and foreign areas was conducted through a literature review.Results:(1) Case report: The 2-day-old patient was transferred to Children's Hospital of Fudan University due to hyperlactic acidemia after birth. Physical examination revealed scattered petechiae and ecchymoses of the skin. Laboratory examination showed coagulation disorders and cranial MRI revealed abnormal signals in both basal ganglia. A homozygous variation of c.442C>T(p.Arg148*) in the SERAC1 gene was detected in the patient, which is a pathogenic variant included in the Human Gene Mutation Database. Both of his parents were heterozygous carriers, thereby the diagnosis of MEGDHEL syndrome was confirmed. Followed up to the age of three years and 11 months, he was found to have psychomotor retardation, spasticity, dystonia, deafness, and loss of language ability. (2)Literature review: Together with the case reported in this study, a total of 88 cases were retrieved, involving 57 different variants. The clinical features were homogenous, with onset mostly in the neonatal period (72%, 62/86), and severe reversible liver dysfunction (49%, 38/77) and neonatal hypoglycemia (44%, 35/80) were the main features. Nervous system was affected since infancy and common symptoms, included hypotonia (86%, 68/79), progressive spasticity (82%, 67/82), dystonia (80%, 66/82), intellectual disability (88%, 58/66) and sensorineural hearing impairment (74%, 59/80). Furthermore, bilateral basal ganglia involvement on cranial MRI (93%,70/75) and 3-methylglutaconic aciduria (98%,80/82) were also seen. Supportive care is currently the main management, however, the prognosis is extremely poor. Conclusions:MEGDHEL syndrome should be highly suspected when reversible neonatal liver dysfunction or hypoglycemia of unknown reasons in neonatal period, followed by progressive deafness-dystonia syndrome in infancy. As the prognosis of these patients is usually poor, genetic testing may provide an early diagnosis in neonatal period.

Objective To investigate the phenotype and genetic characteristics of a Chinese family with an autosomal-dominant inherited sensorineural hearing loss.Methods A Chinese pedigree associated with an autosomal-dominant inherited low-frequency sensorineural hearing loss (LFSNHL) was investigated.After obtaining informed consent from all study participants medical and audiological examination were used to rule out any syndromic hearing impairment.Five patients were tested with DPOAE and ABR,while two patients were tested with vestibular function and computed tomography scan of the temporal bone to exclude auditory neuropathy and other possible aural disorders.Twenty-one loci and twenty-three genes of DFNA screening had been done by using microsatellite markers and linkage analysis.Results Proband of the family had been diagnosed with low-frequency sensorineural hearing loss.A Chinese family BJ-L046 with non-syndromic autosomal dominant hearing loss was ascertained.Hearing impairment in the affected members in family BJ-L046 occured from 10 to 20 years of age and mainly affected the low frequencies,causing an upsloping audiogram.Higher frequencies were getting involved with increasing age,thus causing a flat-type audiogram.No positive result was found in twenty-one loci and twenty-three genes of DFNA screening.Conclusion A Chinese family with late-onset low-frequency sensorineural hearing loss was clinically studied.No positive result was found by linkage analysis,and twenty-one loci and twenty-three genes of DFNA were preliminary excluded.

Objective To compare the therapeutic effect of retrograde ureteroscopic Ho:YAG laser lithotripsy (UHL) and percutaneous nephrolithotripsy (PCNL) in treating patients with renal calculi of ≤3 cm.Methods From Feb.2008 to Apr.2011,a total of 109 cases (117 renal calculi in total) treated by either PCNL (50) or UHL (67) were retrospectively analyzed.Operative time,stone free rate,postoperative hospital stay,hospitalization expenses and complications were compared in the 2 groups.Results The mean stone burden of the UHL group and PCNL group was 2.5 cm (1.5-3.0) cm and 2.4 cm (1.3-3.0) cm,respectively.There was no significant difference in two groups.In UHL group,operations were performed successfully in all 67 calculi,of whom,43 patients needed combination of flexible ureteroscopy to break the stone fragments falling into the renal calices.No serious complication was recorded except postoperative fever in 3 cases.In PCNL group,all patients had been successful operated.Postoperative fever occurred in 2 cases.Obvious intraoperative and postoperative haemorrhage appeared in 1 case,and cured by selective renal artery embolization.The operation time of the UHL group and PCNL group was (117.0±36.5) min and (90.0±18.3) min respectively,and had no significant difference in two groups (P＞0.05).The stone free rate of the UHL group and PCNL group was 94％ (63/67) and 92％ (46/50) respectively,and had no significant difference in two groups (P＞0.05).Hemoglobin decline of the UHL group and PCNL group was (0.3±0.1) g/L and (20.6±8.1) g/L,and had significant difference in two groups (P＜0.05).Postoperative hospital stay of the UHL group and PCNL group was (5.0±2.4) day and (7.0±3.7) day,and had statistical difference in two groups (P＜ 0.05).Hospitalization expenses of the UHL group and PCNL group was (15 477.0±754.3) RMB and (27 453.0± 1763.5) RMB,and had statistical difference in two groups (P＜0.05).Conclusions Although UHL and PCNL have similar curative effect in treating renal stones of less than 3 cm,UHL have the advantages of lcss trauma and complication,lower expenses and fewer hospital stay.In treating renal stones of smaller than 3 cm,especially in the contraindication of PCNL,UHL may be a better choice.