Objective:To explore the relevancy between the uridine diphosphate-glucuronylgly-cosyltransferase 1A1 (UGT1A1) gene mutation and the phenotype of indirect hyperbilirubinemia in children.Methods:Sixteen cases with indirect hyperbilirubinemia who visited the Department of Gastroenterology, Children's Hospital of Nanjing Medical University from July 2013 to November 2019 were retrospectively analyzed and were divided into Gilbert syndrome (GS), Crigler-Najjar syndrome type II (CNS-II), and indirect hyperbilirubinemia groups unexplained by UGT1A1 gene mutations. The differences in gene mutation site information and general clinical data were compared. The association between gene mutation spectrum and bilirubin level was explored by t-test analysis.Results:Ten of the sixteen cases with indirect hyperbilirubinemia had GS, three had CNS-II, and three had indirect hyperbilirubinemia unexplained by UGT1A1 gene mutations. A total of six mutation types were detected, of which c.211G?>?A accounted for 37.5% (6/16), c.1456T?>?G accounted for 62.5% (10/16), and TATA accounted for 37.5% (6/16), respectively. Compared with the GS group, the CNS group had early disease onset incidence, high serum total bilirubin ( t ?=?5.539, P ??0.05) and age of onset ( t ?=?0.3611, P ?>?0.05) between the two groups. There was no significant correlation between the number of UGT1A1 gene mutations and serum bilirubin levels. Children with c.1456T?>?G homozygous mutations had the highest serum bilirubin levels. Conclusion:The common pathogenic variants of the UGT1A1 gene sequence are c.1456T?>?G, c.211G?>?A, and TATA, indicating that these site mutations are related to the occurrence of indirect hyperbilirubinemia and have important guiding significance for the etiological analysis of indirect hyperbilirubinemia in children.

Background: and Purpose The eye-movement examination can be applied as a noninvasive method to identify multiple-system atrophy (MSA). Few studies have investigated eye movements during the early stage of MSA with predominant parkinsonism (MSA-P). We aimed to determine the characteristic oculomotor changes in the early stage of MSA-P. Methods: We retrospectively selected 17 patients with MSA-P and 40 with Parkinson’s disease (PD) with disease durations of less than 2 years, and 40 age-matched healthy controls (HCs).Oculomotor performance in the horizontal direction was measured in detail using videonystagmography. Results: We found that the proportions of patients with MSA-P and PD exhibiting abnormal eye movements were 82.4% and 77.5%, respectively, which were significantly higher than that in the HCs (47.5%, p<0.05). Compared with HCs, patients with MSA-P presented significantly higher abnormal proportions of fixation and gaze-holding (17.6% vs. 0%), without-fixation (47.1% vs. 0%), prolonged latency in reflexive saccades (29.4% vs. 5.0%), memory-guided saccades (93.3% vs. 10.0%), and catch-up saccades in smooth-pursuit movement (SPM, 41.2% vs. 0) (all p<0.05). Compared with those with PD, patients with MSA-P presented a significantly higher proportion of catch-up saccades in SPM (41.2% vs. 2.5%, p<0.001). Conclusions MSA-P presented the characteristic of catch-up saccades in SPM in the early stage, which may provide some value in differentiating MSA-P from PD.

Objective:To explore the mediating effect of negative cognitive processing bias between type D personality and depression after percutaneous coronary intervention (PCI) .Methods:Using the convenient sampling method, a total of 340 patients who underwent PCI for the first time in Department of Cardiology in the Second Affiliated Hospital of Harbin Medical University from September to December 2021 were selected as the research objects. The General Demographic Data Questionnaire, Type D Personality Scale (DS14), Negative Cognitive Processing Bias Questionnaire (NCPBQ) and Beck Depression Inventory-Ⅱ (BDI-Ⅱ) were used to investigate. Spearman correlation analysis was used to determine the correlation between type D personality, negative cognitive processing bias and depression. The mediating effect model was established by AMOS 24.0 software to analyze the mediating effect of negative cognitive processing bias between type D personality and depression.Results:A total of 340 questionnaires were sent out in this study, and 317 valid questionnaires were recovered, with an effective questionnaire recovery rate of 93.2%. The total score of Type D Personality Scale of 317 patients after PCI was (18.05±4.15), in which the score of negative affectivity dimension was (9.51±2.33) and the score of social inhibition dimension was (8.54±2.61). The proportion of patients with type D personality is 24.9% (79/317). The score of Beck Depression Inventory-Ⅱ (BDI-Ⅱ) was (9.52±4.83), and the incidence of depression was 20.2% (64/317). Correlation analysis showed that D-type personality of patients, negative cognitive processing bias and depression were positively correlated ( P<0.05). The mediating effect analysis showed that type D personality could directly affect the occurrence of depression (effect size 0.431, P<0.001), or indirectly through negative cognitive processing bias (effect size 0.145, P<0.001) . Conclusions:The negative cognitive processing bias is an important factor in the occurrence of depression in patients with CHD and with type D personality. Improving the negative cognitive processing bias will help reduce the occurrence of depression and improve the prognosis.

OBJECTIVE: To analyze the effects of hand-transmitted vibration operation on nailfold capillaroscopy( NFC) in fine sanding workers. METHODS: A total of 57 fine sanding workers of one golf ball production enterprise in Guangdong Province were selected as vibration exposure group and 30 workers without exposure to hand-transmitted vibration as control group by a judgement sampling method. NFC examination was carried out in workers of these two groups. RESULTS: The capillary haemorrhage detection rates,percentage of abnormal capillary loops and total capillary width in the vibration exposure group were higher than that in the control group [43. 9% vs 13. 3%,( 56. 6 ± 20. 9) % vs( 41. 2 ± 14. 5) %,( 44. 7 ± 4. 9) vs( 42. 4 ± 4. 9) μm,P < 0. 05]. The capillary density,capillary length and branch diameter in the vibration exposure group were lower than that in the control group [( 7. 7 ± 1. 0) vs( 8. 8 ± 1. 0) per mm,( 185. 1 ± 33. 9) vs( 205. 6 ± 23. 2) μm,( 18. 3 ± 1. 9) vs( 19. 6 ± 2. 6) μm,P < 0. 05]. No significant difference was found in the diameter of apical part and branch of capillaries between the two groups( P > 0. 05). In the vibration exposure group,the percentage of abnormal capillary loops in the left hand was lower than that in the right hand [( 53. 1 ± 20. 6) % vs( 61. 5 ±24. 2) %,P < 0. 01],the capillary length in the left hand of vibration exposure group was longer than that in the right hand [( 187. 2 ± 33. 5) vs( 179. 4 ± 35. 4) μm,P < 0. 05]. No significant difference was found in the capillary density,total capillary width,apical part diameter,output branch diameter and input branch diameter between two hands in the vibration exposure group( P > 0. 05). CONCLUSION: The hand-transmitted vibration can lower the nailfold capillary density,shorten and widen capillary loops, increase percentage of abnormal capillary loops and induce capillary haemorrhage. NFC could be used to assist early detection of microvascular damage induced by hand-transmitted vibration.

Objective: To investigate the value of acoustic parameters in the voice therapy for patients with unilateral vocal cord paralysis (UVCP). Methods: From May 2015 to April 2018, 51 patients with UVCP and 59 healthy controls in Department of Otorhinolaryngology Head and Neck Surgery, Tianjin First Central Hospital, were involved in this research retrospectively. The UVCP patients were diagnosed with stroboscopic laryngoscopy. The minimum glottal area (MGA) was calculated by KIPS software when the people were pronouncing/i:/. The fundamental frequency (F0), Jitter, Shimmer and NHR were detected by CSL4500 multiple acoustic voice analyzer. Results: MGA of UVCP patients was much higher than that of healthy control (male: 433.68±64.52 vs. 294.41±51.82, t=9.23, P=0.000; female: 498.80±73.42 vs. 302.03±76.54, t=13.21, P=0.000), which meaned vocal cord insufficiency.After voice therapy, MGA reduced significantly (male: 288.48±55.09, female: 258.22±57.17, t=24.41 and 31.22, P=0.000 vs. pre-therapy). MGA of untreated patients decreased in varying degrees. Compared with the voice therapy group, the MGA decreased in a significantly lower extent (24.25±22.91 vs. 188.31±54.37, t=8.97, P=0.000). The F0, Jitter, Shimmer and NHR raised significantly in UVCP patients group (P=0.000 vs. healthy control group), and they were reduced by voice therapy (all P<0.05). Each of the four acoustic parameters was relative with MGA, r=0.551, 0.867, 0.853 and 0.875 in turn, P=0.001, 0.000, 0.000, and 0.000. Conclusion MGA and acoustic parameters can reflect the acoustic features of UVCP patients, which are useful tools in the UVCP assessment and voice therapy.

OBJECTIVE: To analyze the changes of finger skin temperature in cold provocation test( CPT) in workers with vibration white finger( VWF). METHODS: A total of 245 male workers engaged in hand arm vibration operation was selected as study subjects using random number table method. All subjects were divided into VWF group( 73 persons) and control group( 172 persons). CPT( 10 ℃,10 min) was performed and the skin temperature of 6 fingers( index finger,middle finger and ring finger of both hands) was measured at pre-CPT adaptation period( 0,10,20,30 min) and after CPT period( 0,5,10,15,20,25,30 min). RESULTS: The effect of interaction between grouping and observe time was statistically significant on finger skin temperature( P < 0. 01). In the pre-CPT adaptation period,there was no statistically significant difference on skin temperature between 10 and 30 min time point in the two groups( P > 0. 05). After CPT,the fingers skin temperature of VWF group was lower than that of control group at 5 min time point( P < 0. 05),but there were no statistically significant differences on fingers skin temperature of other time points between the two groups( P > 0. 05).In both groups,the finger skin temperature at 0 min time point after CPT were lower than other time points in the same group( P < 0. 05),and the finger skin temperature increased with time( P < 0. 01). However,the finger skin temperature at 30 min after CPT did not restore to that at 30 min time point of pre-CPT. Except the VWF group,the abnormal rewarming temperature at 5 min time point after CPT of left index finger,the right index finger and the right ring finger were higher than that of the control group( 72. 6% vs 56. 4%,75. 3% vs 57. 6%,86. 3% vs 65. 1%,P < 0. 05),but there were no statistically significant differences on the abnormal rewarming temperature at 10,30 min time points of the six fingers in the two groups( P > 0. 05). There were no statistically significant differences on the detection rate of abnormal rewarming temperature between left index finger and the right index finger,or the right index finger and the right ring finger in the VWF group( 72. 6% vs 75. 3%,75. 3% vs 86. 3%,P > 0. 05). CONCLUSION: When CPT( 10 ℃,10 min) was performed in workers engaged in hand arm vibration operation,it is recommended to measure the finger skin temperature of index finger,and adaptation time before CPT can be adjusted to 10 min.

Objective: To investigate the effects on human peripheral blood erythrocytes of long-term occupational contact with chromate. Methods: A dynamic cohort study was conducted of chromate-exposed workers (343 cases) and non-chromate-exposed workers (73 cases) at a chromate production enterprise who were selected according to specific inclusion and exclusion criteria from 2010 to 2015. Personal information and chromate exposure information were obtained by questionnaire. A generalized estimating equation was employed to analyze the effects on human peripheral blood erythrocytes of long-term occupational contact with chromate, controlling for age, gender, smoking, alcohol consumption and body mass index. Results: The mean ages and working ages of those entering the cohort study were 36.67 ±6.78 and 38.47 ± 7.18, respectively, for the exposure group and 8.39 ± 6.02 and 12.86 ± 8.34, respectively, for the control group. The erythrocyte content [(4.73±0.46), (4.81±0.53), (4.41±0.45)]×10¹²/L in the peripheral blood in the chromate exposure group was lower than that [(4.76±0.42), (4.95±0.45), (4.47±0.39)]×10¹²/L in the control group for the years 2010, 2011, 2012 and 2014 (t values were 0.38, 1.96, 0.92 and 1.21; P values were 0.703, 0.051, 0.358 and 0.227, respectively). The correlations between the years 2010 and 2011, 2011 and 2012, 2012 and 2014, and 2014 and 2015 were 0.667, 0.464,-0.070 and 0.020, respectively (P<0.001). The RR for males and those that consumed alcohol were 0.661 (95% CI: 0.616-0.709) and 0.910 (95% CI: 0.811- 1.201), respectively. Compared with the control group, the risk of reduced erythrocyte levels in the peripheral blood was increased by 0.915 (95% CI: 0.852- 0.982) in the chromate-exposed group. Conclusions The erythrocyte content of peripheral blood was reduced after long-term exposure to chromate. Maleness and alcohol consumption were factors that increased the risk of reduced peripheral blood erythrocytes in the chromate-exposed population.

OBJECTIVE To investigate the effect of obstructive sleep apnea hypopnea syndrome(OSAHS) on the quality of voice. METHODS Electroglottography (EGG) method was used for detecting the vocal cords vibration, waveforms of electroglottography and voice parameters such as Jitter, Shimmer, normalized noise energy (NNE), contact quotient(CQ), contact index (CI), contact quotient perturbation(CQP), contact index perturbation(CIP), and the in 82 OSAHS patients and 53 healthy subjects. The voice parameters were analyzed with Dr.Speech software, RESULTS While in normal pronunciation, the Jitter, Shimmer, NNE, CQP and CIP were (1.037±1.493)%, (5.627±1.872)%, (-16.109±1.719)dB, (2.638±0.633)% and (166.789±30.492)% in 22 mild OSAHS patients, (1.578±0.362)%, (8.478±1.635)%, (-11.517±1.614)dB, (6.043±0.936)% and (255.210±91.224)% in 24 moderate OSAHS patients, and (2.138±1.384)%, (14.888±4.089)%, (-7.677±2.151)dB, (11.749±7.164)% and (431.233±259.266)%in 36 severe OSAHS patients respectively. They were all higher than those in 53 normal subjects as (0.517±0.303)%, (3.299±2.196)%, (-21.933±5.477)dB, (1.322±0.942)% and (58.834±131.849)%. The regularity of vocal fold vibration in all patients with OSAHS was seriously out of whack. EGG waveform was irregular. CONCLUSION The OSAHS patients have structural changes in their upper airway, it will cause non-physiological breathing and lead dry of the vocal cord mucosa and weak elasticity. Their EGG parameters will get higher and vibration will be irregular seriously. We should pay attention to the voice qualities of the OSAHS patients and let them receive treatment as early as possible.

Objective:To construct a chemiluminescense immune quantification assay based one paired mAbs against complexed prostate specific antigen ( c-PSA).Methods:Six week-old female BALB/c mice were immunized with the commercial c-PSA antigen.After serum titer reaching a platform stage ,the spleen was immunized and fused with mouse myeloma cell lines ( Sp2/0 ) .The hybridoma were screened by indirect ELISA ,and eight generated antibodies were paired to obtain a quantitative analysis of the chemical luminescence.Results:7D6 specifically recognized c-PSA,while 1A10 recognized total PSA(t-PSA).And the paired antibody 1A10/7D6 were determined to successfully construct a chemiluminescense immune response quantitative detection method through the detection of c-PSA standard and clinical serum samples .had,positive samples have statistically significant difference ( P<0.000 1 ) with negative samples.And the correlation coefficient R 2 was 0.97 between our c-PSA quantitative results and that of the Siemens c-PSA chemiluminescense immunoassay kit .The detection linear range was 0.1-100 ng/ml,and the sensitivity was 0.005 ng/ml.Conclusion:The paired monoclonal antibodies specifically detecting c-PSA were generated and a c-PSA chemiluminescense immunoassay were developed in this study .The detection capability of our method was comparable with that of the international commercial kit .