Objective:To retrospectively analyze the results of auditory examination,vestibular function examination and laboratory examination of 63 patients diagnosed as vestibular neuritis.Methods:A total of 63 patients diagnosed with vestibular neuritis hospitalized in the Department of Otolaryngology, Head and Neck Surgery of the Third Affiliated Hospital of Sun Yat-sen University, from October 2012 to December 2022 were recruited. All patients met the diagnostic criteria for the 2022 Bárány association vestibular neuritis. Clinical data and the results of pure tone audiometry, electrocochleogram, video electronystagmogram, caloric test, cervical vestibuloevoked myogenic potential（cVEMP）, ocular vestibuloevoked myogenic potential（oVEMP）, video head impulse test（vHIT） was collected.A total of 63 age-and sex-matched healthy subjects in the physical examination center were randomly selected as the control group. The differences of blood indexs and lipid metabolism indexes between the two groups were compared. Results:In patients with vestibular neuritis, 50 out of 63 patients presented normal threshold in pure tone audiometry, 8 out of 63 patients had bilateral high-frequency sensorineural hearing loss and 5 out of 63 patients had unilateral mild high-frequency sensorineural hearing loss, 56 out of 63 cases completed the electrocochleogram, of which 3 cases had a binaural-SP/AP amplitude ratio≥0.4, 5 cases had monaural amplitude ratio ≥0.4. Fifty-five out of 63 patients completed the caloric test with CP values greater than 30% in all. The ratio of patients completed cVEMP, oVEMP and vHIT were 46 cases, 22 cases and 30 cases, respectively. 17 out of 63 cases completed all the four vestibular function tests. According to these tests, 49 patients could determine the extent of injury，including 27 cases with unilateral superior vestibular nerve injury, 21 cases with unilateral superior and inferior vestibular nerve injury and 1 case with unilateral inferior vestibular nerve injury. There were significant differences in neutrophil value（P<0.001）, lymphocyte value（P<0.005）, neutrophil/lymphocyte ratio（P<0.001） and apolipoprotein A1（P<0.001） between patient group and control group. Inflammatory markers were risk factors for patients with vestibular neuritis. The OR values of neutrophil value and blood neutrophil/lymphocyte ratio were 1.81（1.38-2.37, P<0.001） and 2.11（1.41-3.16, P<0.001）, respectively. Apolipoprotein A1 was a protective factor for patients with vestibular neuritis, and the OR value was 0.004（0.001-0.042, P<0.001）. Conclusion:Electrocochleogram could be used in vestibular neuritis patients with normal pure tone threshold to test whether there is hidden hearing loss in these patients. Neutrophil value, lymphocyte value, neutrophil/lymphocyte ratio and apolipoprotein A1 were correlated with vestibular neuritis. The Neutrophil value and neutrophil/lymphocyte ratio were risk factors for morbidity.
Humans ; Vestibular Neuronitis/physiopathology* ; Retrospective Studies ; Female ; Male ; Audiometry, Pure-Tone ; Hearing Loss, Sensorineural/physiopathology* ; Middle Aged ; Adult ; Vestibular Function Tests ; Vestibular Evoked Myogenic Potentials ; Aged

Objective To investigate the risk factors of mild cognitive impairment(MCI)in elderly pa-tients with hypertension.Methods 270 elderly hypertensive patients treated in the geriatrics department and cardiovascular department of our hospital from September 2023 to March 2024 were analyzed retrospectively.They were divided into hypertension group with MCI(n=142)and hypertension group without MCI(n=128)according to the score of the simple mental state examination(MMSE).The clinical data and laboratory indicators of the two groups were collected and compared.The risk factors of MCI in elderly hospitalized pa-tients with hypertension were analyzed by stepwise logistic regression,and the diagnostic efficiency was ana-lyzed by receiver operating characteristic(ROC)curve.Results The prevalence rate of MCI in elderly pa-tients with hypertension was 52.6％.The monofactor analysis showed that the two groups had different hy-pertension years,hypertension grade,education level,combined diabetes,fasting blood glucose(FBG),triglyc-eride(TG),high density lipoprotein-cholesterol(HDL-C),HDL-C/low density lipoprotein-cholesterol(LDL-C),neutrophil(NEU),lymphocyte(LYM),glycated hemoglobin(HbA1c),arteriosclerosis index(AI),atherogenic index of plasma(AIP)and lipid composite index(LCI),the differences were statistically signifi-cant(P＜0.05).Multivariate logistic regression results showed that hypertension grade(grade 3),diabetes melli-tus,NEU,HbA1c,LYM and AIP were the influencing factors for MCI in elderly hospitalized patients with hyperten-sion(P＜0.05).The area under the curve(AUC)of FBG,TG,HbA1c and AIP in the diagnosis of hypertension com-bined with MCI were 0.801,0.743,0.889 and 0.804,respectively.Conclusion Early management and intervention can be carried out on the influencing factors of MCI in elderly patients with hypertension.

An 11-day-old female neonate was admitted for cough with mouth foaming and feeding difficulties. The laboratory results indicated hyperlactatemia, elevated markers of myocardial injury and inflammation, and high levels of acylcarnitine octanoylcarnitine and decanoylcarnitine in tandem mass spectrometry. Ultrasonography and MRI suggested cardiac insufficiency and hypertrophic cardiomyopathy. Whole exome sequencing showed that both the proband and her elderly sister had a compound heterozygous variant of c.1492dup (p.T498Nfs*13) and c.1376T>C (p.F459S) in the ATAD3A gene, inherited from their father and mother, respectively. The diagnosis of Harel-Yoon syndrome was confirmed. The proband and her sister were born with clinical manifestations of metabolic acidosis, hyperlactatemia, feeding difficulties, elevated markers of myocardial injury as well as cardiac insufficiency, and both died in early infancy.
Humans ; Infant, Newborn ; Female ; Aged ; Mutation ; Hyperlactatemia ; ATPases Associated with Diverse Cellular Activities/chemistry* ; Membrane Proteins/genetics* ; Mitochondrial Proteins/genetics*

Objective:To investigate the application feasibility of Region 4 Stork (R4S) system, an international collaborative newborn screening data platform, combined with cut-off value analysis in the neonatal screening for very long chain acyl-CoA dehydrogenase deficiency (VLCADD) by tandem mass spectrometry (MS/MS).Methods:The retrospective study was performed in 2, 040 072 neonates screened by MS/MS in Neonatal Screening Center of Zhejiang Province, China from October 2013 to July 2018. Nine hundred and ten cases were determined and identified as suspected positive VLCADD neonates by traditional cut-off method of tandem mass spectrometry. The original data of these 910 screened neonates were further analyzed by R4S system. Based on clinical diagnosis and ACADL gene test results, the screening efficiency between two methods was statistically compared.Results:The data of 910 suspected VLCADD-positive cases interpreted by cut-off method were further analyzed by R4S system, and the positive interpretation was reduced to 238 cases (including 9 confirmed positive cases). A total of 16 different mutations were found in ACADL gene sequencing among the confirmed children. The screening false positive rate (FPR) declined from 0.44‰ (901/2 040 072) to 0.11‰ (229/2 040 072), the rate of positive predictive value (PPV) increased from 0.99% (9/910) to 3.78% (9/238), and the specificity increased from 99.96% (2 039 162/2 040 063) to 99.99% (2 039 834/2 040 063). There was a statistically significant difference between cut-off method alone and cut-off method combined R4S system analysis (χ2=393.5, P<0.05). Conclusions:The R4S system combined with cut-off method applied in VLCADD neonatal screening by MS/MS can effectively improve screening performance, reduce false positive rate, and has certain value in clinical application.

OBJECTIVE: To investigate the incidence,clinical,biochemical and genetic characteristics of isovaleric acidemia (IVA) in Zhejiang province. METHODS: Between January 2009 and December 2019, a total of 3 510 004 newborns were screened for IVA using tandem mass spectrometry. Patients of IVA were confirmed by urine organic acid and RESULTS: A total of 15 patients with IVA were diagnosed, with an incidence of 1/234 000. Three patients had acute neonatal IVA, and the rest were asymptomatic. The isovalerylcarnitine (C5) levels were increased in all patients. Twelve children underwent urinary organic acid analysis, of which 11 cases had elevated isovalerylglycine levels, 4 cases with 3-hydroxyisovalerate increased simultaneously. Eleven IVA patients underwent genetic testing, 9 patients were compound heterozygous variants in CONCLUSIONS The clinical manifestations of IVA are non-specific, and the gene spectrum is scattered. Newborn patients screened by tandem mass spectrometry can receive early diagnosis and treatment, so as to correct metabolic defects and pathophysiological changes.
Amino Acid Metabolism, Inborn Errors/epidemiology* ; Child ; China/epidemiology* ; Humans ; Infant, Newborn ; Isovaleryl-CoA Dehydrogenase/genetics* ; Mutation ; Neonatal Screening ; Tandem Mass Spectrometry

OBJECTIVE: To explore effects of different delivery and storage conditions on concentrations of amino acids and carnitines in neonatal dried blood spots (DBS), so as to provide evidence for improving accurate and reliable detection by tandem mass spectrometry. METHODS: A total of 1 254 616 newborn DBS samples in Newborn Screening Center of Zhejiang Province were delivered and stored at room temperature (group A, RESULTS: The concentrations of amino acids and carnitines in the three groups were skewed, and the differences in amino acid and carnitine concentrations among groups were statistically significant (all CONCLUSIONS Cold-chain logistics system and storage in low temperature and low humidity can effectively reduce degradation of some amino acids and carnitines in DBS, improve the accuracy and reliability of detection, and thus ensures the quality of screening for neonatal metabolic diseases.
Amino Acids/analysis* ; Carnitine/analysis* ; Dried Blood Spot Testing/standards* ; Humans ; Humidity ; Infant, Newborn ; Neonatal Screening ; Reproducibility of Results ; Specimen Handling/standards* ; Tandem Mass Spectrometry ; Temperature ; Time Factors

Objective To investigate the feasibility of Region 4 Stork(R4S)project used for newborn screening by tandem mass spectrometry in China.Methods This retrospective study was performed among 362 822 neonates screened by tandem mass spectrometry from May 2015 to April 2016 in Zhejiang newborn screening center.Infants were grouped by screening result category: 83 true positive cases,360 554 true negative cases and 2 185 false positive cases.Raw data was uploaded into R4S website to perform postanalytical interpretive tools, then results were analyzed with interpretation rules.The comparisons of normal population percentiles were done at five selected percentiles between Zhejiang newborn screening center and R4S project with min-max normalization.Results Compared with cutoff system by using R4S project with interpretation rules,the positive predictive value increased from 3.7%to 8.3%,the specificity increased from 99.40%to 99.75%, and the false positive rate declined from 0.6% to 0.2%. The two cases of true positive hyperprolinemia were reported negative, and one case of β-ketothiolase deficiency was misdiagnosis.Totally 311 638 cases in true negative group were resolved by postanalytical interpretive tools,and the remaining 48 916 cases were excluded with interpretation rules.False positive cases were reduced to 897 cases.Results of percentiles comparison showed that levels of some markers were significantly different between zhejiang newborn screening center and R 4S project.Conclusions R4S project effectively improved the newborn screening performance, whereas leaded to a small number of misdiagnosis and missed diagnosis.Besides,many true negative cases should be excluded with interpretation rules.Optimization should be achieved based on local normal population.(Chin J Lab Med,2018,41:300-304)

BACKGROUND:Matrix metal oproteinases (MMPs) have been shown to break the balance between the production and degradation of extracel ular matrix by degrading col agen, gelatin, elastin and other macromolecules, which is the leading cause of bone and cartilage damage in rheumatic arthritis.
OBJECTIVE:To determine the expression levels of MMP-2 and MM-9 in the rabbit knee osteoarthritis cartilage, and to analyze whether they are related to the early MRI performance.
METHODS:Fifty healthy Japanese white rabbits free from osteoarthritis were enrol ed and randomly divided into control group (n=10) and model group (n=40). The anterior and posterior cruciate ligament amputation was adopted to establish the model of osteoarthritis. Subsequently, MRI examination and the expression levels of MMP-2 and MMP-9 were detected at 1, 3, 5 and 7 weeks (n=10 at each time point), respectively.
RESULTS AND CONCLUSION:MRI examination showed that more damaged cartilage appeared with time in the rabbit model of osteoarthritis, and significantly different from MRI classification (P<0.05). The expression levels of MMP-2 and MMP-9 mRNA in the model group were always significantly higher than those in the control group (P<0.05);MMP-2 level reached the highest at 3 weeks after modeling (P<0.01), and then presented a slight decline;MMP-9 level peaked at 5 weeks after modeling (P<0.01) and slightly decreased at 7 weeks. MRI classification of cartage injury and expressions of MMP-2 (R2=0.119, P=0.119) and MMP-9 (R2=0.466, P=0.466) were shown to have the correlation. These results il ustrate that the serum levels of MMP-2 and MMP-9 are related to the early destruction of articular cartilage in patients with osteoarthritis, and can be used as predictors for early osteoarthritis.

Critical value report procedures need to be improved rationally by urban space saving, post setting, and monitoring and analysis of historical data of critical value.Laboratory is required to develop and put into practice critical value policies and procedures by numerous regulatory agency standards, such as, International Standard Organization ( ISO 15189) , College of American Pathologists.Laboratories should implement and continuously improve quality management system for achieving the quality goals set by Laboratory and International Standard Organization.

Objective To examine the correlation of serum neutrophil gelatinase-associated lipocalin (NGAL) with dialysis adequacy,microinflammatory state and iron metabolism,and to assess the value of NGAL in identifying the dialysis adequacy in maintenance hemodialysis (MHD) patients.Methods A total of 150 MHD patients and 50 healthy control people were enrolled in the study.Clinical data were collected and serum NGAL,CRP,transferrin saturation,serum ferritin were measured.MHD patients were divided into adequacy group and non-adequacy group according to spKt/V value.Serum NGAL between two groups was compared and correlation of NGAL with spKt/V,inflammatory factors,and other clinical indexes was examined by Pearson,multivariate regression Logistic model and area under curve (AUC) of ROC.MHD patients were followed up for 3 months.Similar correlation analysis was carried out before and after follow up between two groups.Results Serum NGAL of MHD patients was higher compared to healthy people [(445.45±50.34) μg/L vs (50.02 ±6.45) μg/L].Among 150 MHD patients,95 were classified into adequacy group,while 55 into non-adequacy group according to spKt/V value.Serum NGAL was significantly higher in adequacy group as compared to non-adequacy group [(589.14±56.34) μg/L vs (360.13±46.23) μg/L,P＜0.05].Serum NGAL was positively correlated to spKt/V,CRP,TSAT [r=0.652,0.825,0.785,all P＜0.05],but not to serum ferritin.Serum NGAL was also correlated to spKt/V,CRP,TSAT by multivariate regression Logistic model.AUC showed that NGAL level could reflex the condition of dialysis adequacy.During the follow up,all adequacy patients remained the same adequacy status.Thirty-eight out of 55 non-adequacy patients were qualified for complete adequacy after intervention.The serum NGAL before and after intervention was (368.14±56.21) μg/L and (360.56±46.23) μg/L respectively without significant difference.Conclusions Serum NGAL is obviously higher in MHD patients with dialysis adequacy compared to those without dialysis adequacy.Serum NGAL is positively correlated to spKt/V,CRP,TSAT.NGAL can reflex the condition of dialysis adequate in MHD patients.