Humans ; Consanguinity ; Exome Sequencing ; Mutation/genetics* ; Sequence Analysis, DNA ; Ciliary Motility Disorders ; Axonemal Dyneins/genetics*

Objective To compare the clinical curative effect of retroauricular and tympanic injection of methylprednisolone sodium succinate combined with hyperbaric oxygen in nerve deafness.Methods A retrospective analysis was performed on the case data with nerve deafness.According to cohort method,they were divided into retroauricular injection group(retroauricular injection of 40 mg methylprednisolone sodium succinate+hyperbaric oxygen therapy)and tympanic injection group(tympanic injection of 40 mg methylprednisolone sodium succinate+hyperbaric oxygen therapy).Both groups were treated for 7 times(once every other day).The curative effect,pure tone hearing threshold,oxidative stress and inflammatory response indexes were compared between the two groups,and adverse reactions were statistically analyzed.Results There were 56 cases in retroauricular injection group and 60 cases in tympanic injection group.There was no significant difference in total response rate between retroauricular injection group and tympanic injection group(92.86％vs 88.33％,P＞0.05).After treatment,average pure tone hearing thresholds in retroauricular injection group and tympanic injection group were(38.49±5.71)and(40.35±6.23)dB;high-frequency hearing thresholds were(61.36±6.52)and(63.42±7.09)dB;low-frequency hearing thresholds were(59.72±6.85)and(60.81±7.26)dB;levels of superoxide dismutase(SOD)were(112.38±10.72)and(110.43±10.29)U·mL-1;levels of lipid peroxide(LPO)were(4.69±1.08)and(5.03±1.12)nmol·mL-1;endothelin(ET)levels were(2.11±0.76)and(2.34±0.81)ng·L-1;interleukin-6(IL-6)levels were(31.79±4.27)and(33.18±4.98)pg·mL-1;levels of C-reactive protein(CRP)were(5.25±1.48)and(5.72±1.62)mg·L-1;levels of tumor necrosis factor-α(TNF-α)were(45.33±4.61)and(46.95±5.24)ng·L-;the difference was not statistically significant(all P＞0.05).During treatment,there were significant differences in total incidence of adverse reactions between retroauricular injection group and tympanic injection group(23.21％vs 51.67％,P＜0.05).There were 11 case times of local pain and 4 case times of vertigo in retroauricular injection group,while there were 30 case times of local pain and 15 case times of vertigo in tympanic injection group.Conclusion Retroauricular injection or tympanic injection of methylprednisolone sodium succinate combined with hyperbaric oxygen therapy has the comparable curative effect in patients with nerve deafness;the two administration modes both can promote hearing recovery,relieve reduce oxidative stress and inflammatory response.However,retroauricular injection has lower incidence of local pain and vertigo.

Objective To understand the infection status of patients with maintenance hemodialysis(MHD)in Guizhou Province,and provide basis for the prevention and control of hemodialysis-related infection.Methods MHD patients in hemodialysis centers of 124 secondary and or higher grade medical institutions in Guizhou Province from July to December 2022 were surveyed.Survey content included the general conditions of patients,hemodialysis-related conditions,infection of pathogens of blood-borne diseases,and other infection-related conditions.Results A total of 15 114 MHD patients were surveyed,with age mainly ranging from 36 to＜60 years old(55.83％).Hemodialysis history ranged mainly from 1 year to＜5 years(59.37％),and the frequency of hemodi-alysis was mainly 3 times per week(73.91％).Autologous arteriovenous fistula(AVF)was the major vascular access for dialysis,with a total of 12 948 cases(85.77％).The main primary disease was chronic renal failure(99.89％).The infection rates of hepatitis B virus(HBV),hepatitis C virus(HCV),human immunodeficiency vi-rus(HIV),and Treponema pallidum in MHD patients were 5.29％,0.64％,0.24％,and 1.70％,respectively.HBV infection rates among MHD patients of different ages,different numbers of dialysis hospitals,and dialysis in-stitutions of different scales showed statistically significant differences(all P＜0.05).HCV infection rates among MHD patients of different ages,with different dialysis times and from institutions of different scales were signifi-cantly different(all P＜0.05).TP infection rates among MHD patients of different ages and different numbers of dialysis hospitals were all significantly different(all P＜0.05).Infection rates of HBV and HCV in MHD patients aged from 36 to 60 years old(not included)were relatively higher(6.10％and 0.84％,respectively).Patients with dialysis time ≥10 years had a higher HCV infection rate(1.64％).Infection rates of HCV,HIV,and TP in pa-tients dialyzed in medical institutions with ≥90 dialysis beds were relatively higher(0.74％,0.28％,and 1.94％,respectively).Medical institutions with＜30 dialysis beds had the highest HBV infection rate(18.64％).There were 9 cases(0.06％)of vascular puncture infection,12 cases(0.08％)of bloodstream infection,7 cases(0.05％)of vascular access-related bloodstream infection,and 30 cases(0.20％)of pulmonary infection.Vascular access-re-lated bloodstream infection rate and pulmonary infection rate among MHD patients with different types of vascular access showed statistically significant difference(all P＜0.05).Vascular access-related bloodstream infection rate(0.37％)and pulmonary infection rate(1.10％)of patients with non-cuffed catheters vascular access were higher than those of other types.Conclusion MHD patients in Guizhou Province are mainly middle-aged and young peo-ple,with more males than females.The dialysis frequency is mostly 3 times per week,and AVF is the major vascu-lar access.MHD patients are prone to complications such as infections of HBV,HCV,HIV,and TP,as well as bloodstream infection and pulmonary infection.

Objective To conduct risk assessment analysis through risk assessment model for postoperative pneu-monia(POP)in surgical departments constructed according to analytic hierarchy process(AHP)-risk matrix,and evaluate the application effectiveness of the model.Methods Taking a tertiary comprehensive teaching hospital as an example,a risk assessment was conducted on the occurrence of POP in 15 surgical departments in 2022.The ap-plication effect of POP risk assessment model for the surgical departments constructed based on the AHP-risk ma-trix was evaluated,and the POP risk level of the surgical departments was determined.Results Through applica-tion of risk assessment model,the POP risk level of the surgical departments was divided into 5 levels,namely ex-tremely high risk(n=3),high risk(n=1),medium risk(n=5),low risk(n=4),and extremely low risk(n=2).Conclusion The application effect of the surgical POP risk assessment model based on AHP-risk matrix method is good,achieving quantitative assessment of healthcare-associated infection risk,and providing data basis and support for further targeted risk control.

Objective To investigate a suspected outbreak of carbapenem-resistant Klebsiella pneumoniae(CRKP)healthcare-associated bloodstream infection(HA-BSI),provide reference for effective control of CRKP in-fection.Methods The characteristics of CRKP infected patients and the risk factors for the event transmission in an adult hematology department of a teaching hospital in June 2022 were obtained by field epidemiological investigation.The specimens of environmental target strains were co-llected by blood nutrient agar inoculation,the removal status of environmental microorganisms and the effect of infection control after implementing control measures were com-pared.Results There were a total of 6 cases of CRKP HA-BSI,with an attacking rate of 1.29％(6/464),which was significantly higher than 0 during the same period in 2021,and difference was statistically significant(P=0.011).In environmental hygiene monitoring,the detection rate of CRKP was 2.27％(1/44),which was from the surface of bed curtain in the living unit of infected patients,homology analysis with CRKP detected from 2 patients revealed that the 16s RNA of 3 CRKP strains was completely identical,with a similarity of 100％.Seven house-keeping genes of 3 CRKP strains were all identical and belonged to the ST11 type.Comprehensive control measures were taken:appropriate closure of the ward,centralized isolation of patients,terminal disinfection of the ward,reg-ular health care workers and relative restriction of their activity areas.After the measures were taken,the qualified rate of microbial colony count in the ward increased compared to before taking the measures(2.27％vs 68.89％,P＜0.001),with a statistically significant difference,there were no more CRKP infected cases after the intervention,indicating that the control measures were effective.Conclusion This outbreak was caused by ST11 type of common CRKP in China,and laminar bed curtains are carriers of pathogen transmission.It is speculated that non-standard cleaning and disinfection,as well as inadequate implementation of hand hygiene are the main causes for transmis-sion.Adopting an appropriate strategy of closing the ward and concentrating patient isolation can quickly and effec-tively prevent the transmission of the event.

Objective:To further improve the understanding of paroxysmal nocturnal hemoglobinuria (PNH), we retrospectively analyzed and summarized the clinical characteristics, treatment status, and survival status of patients with PNH in Zhejiang Province.Methods:This study included 289 patients with PNH who visited 20 hospitals in Zhejiang Province. Their clinical characteristics, comorbidity, laboratory test results, and medications were analyzed and summarized.Results:Among the 289 patients with PNH, 148 males and 141 females, with a median onset age of 45 (16-87) years and a peak onset age of 20-49 years (57.8% ). The median lactic dehydrogenase (LDH) level was 1 142 (604-1 925) U/L. Classified by type, 70.9% (166/234) were classical, 24.4% (57/234) were PNH/bone marrow failure (BMF), and 4.7% (11/234) were subclinical. The main clinical manifestations included fatigue or weakness (80.8%, 235/289), dizziness (73.4%, 212/289), darkened urine color (66.2%, 179/272), and jaundice (46.2%, 126/270). Common comorbidities were hemoglobinuria (58.7% ), renal dysfunction (17.6% ), and thrombosis (15.0% ). Moreover, 82.3% of the patients received glucocorticoid therapy, 70.9% required blood transfusion, 30.7% used immunosuppressive agents, 13.8% received anticoagulant therapy, and 6.3% received allogeneic hematopoietic stem cell transplantation. The 10-year overall survival (OS) rate was 84.4% (95% CI 78.0% -91.3% ) . Conclusion:Patients with PNH are more common in young and middle-aged people, with a similar incidence rate between men and women. Common clinical manifestations include fatigue, hemoglobinuria, jaundice, renal dysfunction, and recurrent thrombosis. The 10-year OS of this group is similar to reports from other centers in China.

Objective To investigate the effects of calorie-restricted diet(CRD)combined with intesti-nal micro-ecological preparation on the clinical outcomes of overweight/obese infertile patients undergoing fresh embryo transfer cycle.Methods A total of 197 cases of fresh embryo transfer assisted by in vitro fertili-zation(IVF)/intracytoplasmic sperm injection(ICSI)-embryo transfer(ET)in the hospital from January,2019 to December,2021 were selected as the research objects,and were divided into the overweight interven-tion group(n=46),the overweight control group(n=85)and the obesity intervention group(n=85)accord-ing to the body mass index(BMI)and whether they accepted CRD intervention or not.Results Compared to before the intervention,the overweight intervention group had significantly lower body mass[(63.59±4.90)kg vs.(67.47±5.10)kg],BMI[(25.74±1.26)kg/m2 vs.(26.58±0.75)kg/m2],body fat percentage[(36.51±3.76)％vs.(39.21±4.26)％],waist to hip ratio(0.88±0.04 vs.0.91±0.04),visceral fat grade(10.80±2.45 vs.12.63±2.60),and basal metabolic rate[(1 235.98±74.32)kcal vs.(1 254.63±77.23)kcal],P＜0.05;The body mass[(71.79±9.78)kg vs.(77.18±9.62)kg],BMI[(29.04±2.96)kg/m2 vs.(31.21±2.64)kg/m2],body fat percentage[(40.47±4.77)％vs.(43.97±3.81)％],waist to hip ratio(0.92±0.05 vs.0.96±0.06),and visceral fat grade(14.00±3.74 vs.16.59±3.15)of the obesity interven-tion group were significantly reduced(P＜0.05).Compared with the overweight control group,the number of transplanted embryos(1.85±0.36 vs.1.96±0.19)in the overweight intervention group was less(P＜0.05),while the number of live births(0.61±0.37 vs.0.56±0.36)was more,the live birth rate(43.48％vs.40.00％)was higher,but there was no statistically significant difference(P＞0.05).The clinical preg-nancy rate and live birth rate in the obesity intervention group were higher than those in the control group(72.41％vs.51.35％and 58.62％vs.35.14％),with no statistical significance,but with a strong statistical significance(P＞0.05).Conclusion CRD combined with intestinal micro-ecological preparation can signifi-cantly reduce the body mass and body fat of overweight/obese infertile patients,may help improve the success rate of assisted reproduction in obese infertile patients.

Objective:To analyze the clinical characteristics and all-cause mortality influencing factors of patients with Keshan disease.Methods:Clinical data of patients with Keshan disease from Keshan disease areas in Sichuan Province and Yunnan Province were collected and retrospectively analyzed for clinical characteristics and survival status during regular follow-up. According to the survival status of patients, the survey subjects were divided into a survival group and a death group. All-cause mortality (referring to the death caused by various reasons throughout the follow-up period) was used as the study endpoint. Kaplan-Meier (K-M) survival curve analysis and log-rank χ 2 test were performed, univariate and multivariate Cox regression analysis were used for all-cause mortality factor analysis. Results:A total of 176 patients with Keshan disease were collected, including 92 cases in Sichuan Province and 84 cases in Yunnan Province. Among all the patients, there were 105 males, accounting for 59.66%, and 71 females, accounting for 40.34%. The age was (53.89 ± 13.19) years old. Thirty-five cases died from all causes, with a mortality rate of 19.89%. There were significant differences in age ( t = 2.09, P = 0.038), New York Heart Association (NYHA) cardiac function grading (χ 2 = 14.62, P < 0.001) and ventricular premature contraction (χ 2 = 6.82, P = 0.009) between the survival group and the death group. K-M survival curve analysis showed that patients with Keshan disease complicated by premature ventricular contraction and high NYHA cardiac function grading (Ⅲ and Ⅳ) had higher all-cause mortality (log-rank χ 2 = 8.72, 22.49, P < 0.05). Univariate Cox regression analysis showed that NYHA cardiac function grading and ventricular premature contraction ( HR = 3.09, 2.71, P < 0.05) were predictive influencing factors for all-cause mortality in patients with Keshan disease. Multivariate Cox regression analysis showed that NYHA cardiac function grading ( HR = 6.57, P = 0.002) and ventricular premature contraction ( HR = 2.98, P = 0.050) were independent factors for all-cause mortality in patients with Keshan disease. Conclusions:Among 176 patients with Keshan disease, the number of patients with poor cardiac function (NYHA cardiac function grading Ⅲ and Ⅳ) and arrhythmia is high. NYHA cardiac function grading and ventricular premature contractions are independent influencing factors for all-cause mortality in patients with Keshan disease.

Objective:To analyze the clinical characteristics, prognosis and gene mutation in patients with dilated cardiomyopathy (DCM) in Keshan disease area of Sichuan Province, and to explore the risk factors for all-cause death in DCM patients.Methods:In June 2016, 55 DCM patients diagnosed at the local disease prevention and control center through clinical manifestations, electrocardiogram examination, and echocardiography were selected as the survey subjects in Mianning County, Liangshan Yi Autonomous Prefecture, and Renhe District, Panzhihua City, Keshan disease areas of Sichuan Province. Baseline clinical data were analyzed and long-term follow-up was conducted. The follow-up period ended June 15, 2021, with the endpoint of all-cause death. Univariate Cox regression was used to analyze the influencing factors of all-cause death in patients, and Kaplan-Meier (K-M) survival curve was used to analyze the survival time of patients. At the same time, peripheral venous blood was collected from 27 DCM patients. After separating white blood cells, DNA was extracted, and whole exome sequencing was performed to screen potential pathogenic genes.Results:Among the 55 DCM patients, 40 were males and 15 were females. The age was (54.09 ± 12.38) years old. The heart function classification of New York Heart Association (NYHA) was mainly grade Ⅱ and Ⅲ, accounting for 94.55% (52/55). The follow-up time for 55 DCM patients was (7.02 ± 2.96) years, and 17 patients experienced all-cause death, accounting for 30.91% (17/55), including 15 males and 2 females. Compared with the survival group, the death group had a lower incidence of syncope (χ 2 = 6.57, P = 0.010), but higher rates of bilateral lower limb edema (χ 2 = 6.43, P = 0.017), pulmonary congestion (χ 2 = 7.61, P = 0.006), intraventricular conduction block (χ 2 = 6.41, P = 0.011), and angiotensin-converting enzyme inhibitor (ACEI) use (χ 2 = 6.57, P = 0.010), as well as increased left ventricular diameter ( t = 2.36, P = 0.022). Univariate Cox regression analysis showed that bilateral lower limb edema [hazard ratio ( HR) = 4.61, P = 0.042] and intraventricular conduction block ( HR = 3.20, P = 0.019) were risk factors for all-cause death of DCM patients. The results of K-M survival curve analysis showed that patients with bilateral lower limb edema and intraventricular conduction block had higher all-cause death rates (log-rank χ 2 = 5.02, 6.24, P = 0.025, 0.012). Whole exome sequencing results showed that 4 patients were detected to carry pathogenic or suspected pathogenic gene mutations, with a positive rate of 14.81% (4/27), involving three genes: β-myosin heavy chain 7 (MYH7), calreticulin 3 (CALR3), and gelsolin (GSN). Conclusions:The all-cause death rate of DCM patients in the Keshan disease area of Sichuan Province is relatively high. Dead patients are prone to bilateral lower limb edema, pulmonary congestion, and intraventricular conduction block, as well as increased left ventricular diameter. Bilateral lower limb edema and intraventricular conduction block are independent predictive risk factors for all-cause death in DCM patients. MYH7, CALR3 and GSN are involved in the pathogenesis of DCM.

Objective:To analyze the risk factors for late-onset hemorrhagic cystitis(LOHC)after allogeneic hematopoietic stem cell transplantation(allo-HSCT),the risk factors for the progression of LOHC to severe LOHC,and the effect of LOHC on survival.Methods:The clinical data of 300 patients who underwent allo-HSCT at the First Affiliated Hospital of Chongqing Medical University from January 2015 to December 2021 were retrospectively analyzed.The relevant clinical parameters that may affect the occurance of LOHC after allo-HSCT were selected for univariate and multivariate analysis.Then,the differences in overall survival(OS)and progression-free survival(PFS)between different groups were analyzed.Results:The results of multivariate analysis showed that the independent risk factors for LOHC after allo-HSCT were as follows:age≤45 years old(P=0.039),intensified conditioning regimen with fludarabine/cladribine and cytarabine(P=0.002),albumin ≤ 30 g/L on d30 after transplantation(P=0.007),CMV-DNA positive(P=0.028),fungal infection before transplantation(P=0.026),and the occurrence of grade Ⅱ-Ⅳ aGVHD(P=0.006).In the transplant patients who have already developed LOHC,the occurance of LOHC within 32 days after transplantation(P=0.008)and albumin ≤ 30 g/L on d30 after transplantation(P=0.032)were independent risk factors for the progression to severe LOHC.The OS rate of patients with severe LOHC was significantly lower than that of patients without LOHC(P=0.041).Conclusion:For the patients aged ≤ 45 years old and with intensified conditioning regimen,it is necessary to be vigilant about the occurrence of LOHC;For the patients with earlier occurrence of LOHC,it is necessary to be vigilant that it develops into severe LOHC.Early prevention and treatment of LOHC are essential.Regular monitoring of CMV-DNA and albumin levels,highly effective antiviral and antifungal therapies,and prevention of aGVHD are effective measures to prevent the occurrence and development of LOHC.