The patient has complained of fullness in her right ear since she took a flight 5 years ago. Pure tone audiometry indicated normal hearing threshold and acoustic immitance proved type A tympanogram in both ears. She visited different doctors over and over again, with every doctor diagnosed her with psychogenic ear fullness. The patient was treated with vasodilative and neurotrophic medicine, together with psychotherapy, but her ear fullness didn't relieve. Three months ago she visited our department. Tubomanometry (TMM) can't find R value under 50mBar and ETS-7 score was zero in her right ear. Eustachian tube dysfunction was diagnosed and the patient was then given nasal decongestants, intranasal corticosteroids and myrtol for treatment. A month later the patient's symptom relieved and TMM showed R value less than 1 under 30mBar and EST-7 score was 14 in the right ear.
Audiometry, Pure-Tone ; Ear Diseases ; diagnosis ; physiopathology ; therapy ; Eustachian Tube ; physiopathology ; Female ; Humans

Neonatal inherited metabolic diseases are a group of metabolic disorders caused by singe gene defect to cause a series of clinical symptoms.Neonatal dried blood spots have the advantages of simple preparation,safety,good stability,and show strong practicability in different screening methods for inherited metabolic diseases.With the development of screening methods,more and more diseases could be diagnosed by screening.The emergence of tandem mass spectrometry and molecular biological techniques promote the newborn screening and automation for inherited metabolic disease effectively.Inherited metabolic diseases induce great harm to the newborn,which could cause not only system organs damage,but also lead to death.Therefore,early screening is important for patients' prognosis.

Objective To determine the clinical indications and detection efficiency of non-invasive prenatal testing (NIPT) in Jiangsu Province, China. Methods A total of 13 041 pregnant women from nine hospitals in Jiangsu Province who voluntarily accepted NIPT for chromosome 13, 18, 21 and sex chromosome from January 1, 2012 to December 31, 2013 were analyzed retrospectively. All cases were singleton pregnancies and spontaneously conceived. Invasive prenatal diagnosis followed by fetal chromosome karyotype analysis was recommended in high-risk women following NIPT. The clinical indications and positive predictive value of NIPT were conducted. Results NIPT detected 88, 19, 9 and 64 cases at high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy, and the positive rate was 0.67%, 0.15%, 0.07% and 0.49%, respectively. Among the 74, 13, 8 and 44 high-risk cases who accepted chromosome karyotype analysis, respectively, 67 cases were diagnosed with trisomy 21, 12 cases with trisomy 18, one case with trisomy 13, and 18 cases with numerical X chromosome abnormality. The positive predictive value was 90.5% (67/74), 12/13, 1/8 and 40.9% (18/44), respectively. One pregnant woman who was reported as high-risk trisomy 21 following NIPT, but high-risk trisomy 18 at prior serum screening, was eventually diagnosed with fetal trisomy 18 by chromosome karyotype analysis, whose placenta was a mosaic of trisomy 21 and trisomy 18. High-risk following serum screening was the most common indication for NIPT accounting for 46.4% (6 056/13 041), followed by low-risk but asking for testing (28.9%, 3 773/13 041) and advanced age (20.5%, 2 673/13 041). Conclusions High-risk, low-risk but asking for testing and advanced maternal age are common indications for NIPT in Jiangsu Province. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.

Objective To investigate the changes of serum thyroxine level in obstructive sleep apnea-hy-popnea syndrome(OSAHS) patients and to assess the role of serum thyroxine in the development of OSAHS. Meth-ods Polysomnography was used to examine the patients with OSAHS and fasting plasma serum thyroxine level were higher in obese OSAHS patients than in obese controls[ (43.56±3.48)cm vs (38.33±3.08)cm,t =4. 258,P < 0.05 ], in non-obese OSAHS patients than in non-obese control group [ (40.50±1.05 )cm vs (36.17±3.13 )cm, t = 3. 146 ,P < 0.05 ] . The levels of FT3 was (6.35±3.15 ) pmol/L in obese OSAHS patients and ( 4.08±2.37 ) pmol/L in control subjects ( t = 2.203 ,P < 0.05 ). That was ( 3.42±0.57 ) pmol/L in non-obese OSAHS patients related with AHI and microarousal index (r = 0. 500, P < 0.05;r = 0.561, P < 0.05 ), and FT4 was also positively with neck circumference( t = 0.489, P < 0.05 ), TSH level was negatively correlated with neck circumference ( t = - 0.500, P < 0.05 ) and was positively correlated with the percentage of body fat ( r = 0.498, P < 0.05 ). Conclu-sions The FT3 levels are significantly higher in the OSAHS patients than that in control subjects, though all FT3 lev-els are normal, suggesting that there are possibility to have abnormal metabolism. At the same time, FT3 level is posi-tively correlated with neck circumference ,suggesting that the OSAHS patients' higher neck circumference is correla-ted with thyroxine.

Objective:To compare the effects of 3 different crystalloid fluids at different osmotic concentrations on blood-brain barrier(BBB) and brain edema in severe hemorrhagic shock rats.Methods: A total of 150 male SD rats were equally randomized into a lactated Ringers(LR) group,a 7.2% hypertonic saline(HS) group and a plasmalyte A(PA) group.LR,PA and HS were administered after an hour of severe hemorrhagic shock induced by drawing out about 40% of total blood and maintaining MAP at 35-45 mmHg.Serum S100B,cerebra1 Evans Blue(EB) and water content were determined before(T_0) and 1 h after bleeding(T_1) and immediately(T_2),1 h(T_3) and 2 h(T_4) after administration.The changes of BBB in the hippocampus CA1 area were observed by electron microscopy.Results: The serum S100B level was obviously higher at T_1,T_2,T_3 and T_4than at T_0 in all groups(P0.05).The cerebra1 water content was significantly increased at T_1,T_2,T_3 and T_4in the LR group,at T_1in the HS and at T_1,T_2 and T_3 in the PA as compared with T_0(P

Objective To discuss the detection rate of chromosomal abnormalities in women with different indications for invasive prenatal diagnosis(amniocentesis and eordocentesis), and the procedure-related complications. Metheds A retrospective analysis was conducted on 1264 women, who underwent invasive prenatal diagnosis (1082 amniocentesis and 182 eordocentesis), and the procedure-related complications were reviewed. Results The indications for invasive prenatal diagnosis in these 1264 women were: increased risk at prenatal screening (651, 51.5%), advanced maternal age (≥35) (318, 25.2%), abnormal foundings through uhrasonograph (136, 10.8%),history of adverse pregnancy (88, 6.9%), one or two abnormal serologic markers (52,4.1%), and chromosomal balance translocation carrier in either one of the couple(19, 1.5%). Thirty-seven cases were found to be chromosomal abnormalities with clinic significance and the indications for them were: ultrasonic abnormality (20/136, 14.7%); increased risk at prenatal screening (12/651, 1.8%); one or two abnormal serologic markers (1/52, 1.9%); history of adverse-pregnant (1/88, 1.1%)chromosomal balance translocation carrier in either one of the couple (3/19, 15.8%); advanced maternal age (0/318). Among the 1264 cases, 5 experienced spontaneous abortion and the procedure-related fetal loss rates were 0.28% for amniocentesis (3/1082) and 1.09% for cordocentesis (2/182), P=0. 154. The rate of complications after cordocentesis was significantly higher than amniocentesis (9.89 % vs 0.18 %, P= 0.0001). Conclusions Routine fetal karyotyping should be prompted after prenatal ultrasonographic abnormalities. However, invasive prenatal diagnosis due to advanced maternal age alone is controversial. Amniocentesis is the fist choice for invasive prenatal diagnosis.

Radiation-induced bystander effect (RIBE) refers to that irradiated cells release signaling factors and induce responses in nonirradiated cells.In other words, it is the communication between irradiated and nonirradiated cells by intracellular signals. RIBE could influence the efficacy of tumor radiotherapy, but also has potential risk to the normal tissues outside of radiation field. Studies have found that ionizing radiation can induce the alteration of miRNA expression not only in the irradiated cells but also in adjacent nonirradiated tissues, and miRNAs may play an important role in the regulation of signaling pathways between irradiated and nonirradiated bystander cells. This article reviewed the roles of miRNAs in RIBE.

Objective:To explore high-frequency color Doppler ultrasound characteristics of extramammary Paget′s disease (EMPD) .Methods:From January 2015 to October 2019, 32 patients with pathologically confirmed EMPD were collected from the Affiliated Hospital of Jining Medical University, and characteristics of their high-frequency color Doppler ultrasound images were retrospectively analyzed.Results:Of the 32 lesions, 25 were located on the external genitalia (21 on the scrotum, 4 on the perineum) , 4 on the medial thigh, 1 on the lower abdominal wall, 1 in the perianal region, and 1 on the neck. Ipsilateral inguinal lymph node metastasis occurred in 3 patients, and bilateral inguinal lymph node metastasis in 1 patient. High-frequency ultrasonography showed no obvious abnormal ultrasound manifestations in 6 cases, and thickened skin lesions in 26 cases. According to the morphological and high-frequency ultrasound manifestations, 26 skin lesions were classified into 2 types: 21 diffuse-type lesions with unclear borders and irregular shapes, and 5 mass-type lesions with clear borders and irregular shapes. Solid and homogeneously hypoechoic areas were observed in 18 cases, and solid and heterogeneously hypoechoic areas in 8. According to the Adler blood flow classification, the 26 lesions were classified into 4 grades: 2 of grade 0, 5 of grade 1, 8 of grade 2, and 11 of grade 3.Conclusion:EMPD shows characteristic high-frequency color Doppler ultrasound manifestations, which can facilitate its clinical diagnosis.

Objective:To preliminarily explore the association between single nucleotide polymorphisms (SNP) of five candidate genes (APH1B, PRNP, HMGCR, SIRT1, ApoE) and Alzheimer′s disease (AD), and to analyze the methylation levels of BAX and ApoE promoters on the pathogenesis of AD.Methods:Seventeen cases who were admitted to the Department of Geriatrics of the First Affiliated Hospital of Xinjiang Medical University from 2014 to 2015 and diagnosed as likely to be AD by geriatrician and neurologists according to the AD diagnostic criteria in 4th Revised Edition of the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatric Association served AD group, with an age of (75.65±5.86) years, and 34 non-AD patients with matching baseline data such as age, gender, ethnicity, and education status among patients hospitalized during the same period were selected as control group, with an age of (77.59±7.41) years. Sanger sequencing method was used for SNP typing of candidate genes. Methylation-specific polymerase chain reaction was used to determine the DNA methylation level.Results:The distribution of ApoE ε4 allele was statistically different between the AD group and the control group (χ 2=9.718, P=0.002). Candidate genes (SIRT1 rs7895833, APH1B rs1047552, PRNP rs1799990, HMGCR rs3846662) SNP locus genotypes and alleles had no statistically significant differences in the distribution between the AD group and the control group ( P>0.05). After stratification according to whether they carried ApoE ε4, no statistically significant difference was found between the two groups ( P>0.05). The BAX promoter methylation level of the AD group (0.045±0.025) was lower than that of the control group (0.061±0.028) ( t=-2.078, P=0.045). After gender stratification, the BAX methylation level of the female AD group (0.044±0.021) was lower than that of the control group (0.065±0.275) ( t=-2.230, P=0.045). There was no statistically significant difference in the methylation level of ApoE promoter between the AD group and the control group ( P>0.05). After stratification according to whether they carry ApoE ε4 or not, the methylation level of AD patients with ApoE ε4 allele (1.553±0.291) was higher than that of non-carriers (1.221±0.261) ( t=2.480, P=0.025). Conclusions:ApoE ε4 allele may be a risk factor for the onset of AD. BAX promoter hypomethylation contributes to AD in the elderly in Xinjiang, especially in female. ApoE ε4 allele may cause AD through the interaction with ApoE methylation.

Objective To study the effect of empty-nest (EN) on the variability of HBPV in elderly hypertensive patients.Methods 457 elderly essential hypertensive patients admitted to our hospi tal were divided into non EN group (A group,n =183),EN couple group (B group,n =150),and EN single group (C group,n=124).They underwent 7-day HBPV,their BPV was detected,their loneliness and depressive symptoms were assessed according to the UCLA-LS and GDS.Results The variability of self-measured DPB and SBP,UCLA-LS and GDS score were significantly higher in B and C groups than in A group (P＜0.05).The variability of SBP,UCLA-LS and GDS score were significantly higher in C group than in B group (46.06±7.98 vs 38.95±8.11;7.67±2.58 vs 6.48±2.60,P＜0.05).Partial correlation analysis showed that the variability of SBP and DBP was positively related with the UCLA-LS and GDS score (P＜0.05).The variability of SBP was significantly higher in B and C groups than in A group after adjustment of confounding factors (P=0.000).Conclusion EN,an independent influencing factor for the variability of blood pressure in elderly hypertensive patients,is related with their loneliness and depression.