OBJECTIVETo explore the candidate disease causing gene for a case with floppy infant syndrome (FIS).

METHODSSingle nucleotide polymorphism array (SNP array) was used for analyzing the whole genome copy number mutations in the proband. Multiple PCR combined with denaturing high performance liquid chromatography (DHPLC) was employed to verify the suspected mutations in the proband and his family members.

RESULTSA large duplication arr [hg19] Xq13.1: 67 987 646-73 805 828, which spans approximately 5.818182 Mb and encompasses 66 known genes, was identified in the proband. The multiple PCR-DHPLC assay confirmed duplication of HDAC8, PHKA1, TAF1, DLG3, KIF4A, IGBP1, PJA1 and SLC16A2 genes in the proband. His mother and grandmother both had duplication of the above genes in one X chromosome, but his aunt had not.

CONCLUSIONThe large Xq13.1 duplication identified by the SNP array probably underlies the FIS in this family. For its high-throughput, high resolution and capacity of automation, SNP array has provided a first line method for the genetic testing for infants featuring developmental delay with unknown reason, mental retardation, autism, multiple malformation and FIS.

Objective:To compare the clinical safety and the efficacy of the transurethral plasmakinetic bipolar enucleation of the prostate and diode laser enucleation of the prostate in day surgery patients.Methods:The clinical data of 99 patients with benign prostatic hyperplasia (BPH) who underwent day surgery in Zhujiang Hospital of Southern Medical University from August 2019 to August 2021 were retrospectively analyzed. Among them, 47 cases underwent transurethral plasmakinetic bipolar enucleation of the prostate (bipolar group), and 52 cases were treated with diode laser enucleation of the prostate (diode laser group). There were no significant differences in age [57.0(56.0, 61.0)years old vs. 59.0(57.0, 62.0)years old], prostate volume[(60.0±8.2)ml vs. (57.4±9.4)ml], preoperative total prostate-specific antigen (tPSA) [(1.8±0.9) ng/ml and (2.2±0.9) ng/ml], postvoid residual (PVR) [20.0(0, 40.0)ml vs. 20.0(1.3, 41.5)ml], maximum flow rate (Q max) [(9.4±2.6) ml/s vs. (9.6±1.9) ml/s], International Prostate Symptom Score (IPSS) [19.0(16.0, 21.0) vs. 19.0(18.0, 21.0)], quality of life (QOL) [5.0(4.0, 5.0)vs. 5.0(4.0, 5.0)] and International Index of Erectile Function 5 (IIEF-5) [(18.8±1.0) vs. (19.2±0.9)] score between the bipolar group and diode laser group (all P>0.05). The indexes of operation time, postoperative hemoglobin decline, blood sodium decline, bladder irrigation time, catheter indwelling time, Q max, IPSS, QOL, IIEF-5 score and so on were compared between the two groups. Results:All day surgeries were successfully completed without serious complications. The operation time of the bipolar group was less than that of the diode laser group [(57.3 ± 4.2) vs. (64.4 ± 6.3) min, P<0.001], and no statistically significant difference was found in the postoperative hemoglobin decline between the two groups [(9.8 ± 4.3) g/L vs. (8.5 ± 4.3) g/L, P=0.154]. None of the patients received transfusion treatment, and neither group of patients had severe hematuria or needed to be readmitted to hospital. There was no significant difference in the decrease of blood sodium [1.7 (1.3, 2.0) mmol/L vs. 1.7 (1.5, 1.9) mmol/L] and the postoperative bladder irrigation time [(7.7 ± 1.4)h vs. (8.0 ± 1.6)h] between the bipolar and diode laser groups ( P > 0.05). There were 8 patients in the bipolar group and 7 patients in the diode laser group who retained urinary catheter for 48-60 h due to intraoperative inflammatory changes in the prostate, and the remaining patients had their urinary catheter removed within 24 hours. The Q max of the bipolar group and the diode laser group one month after surgery were (20.4 ± 1.8) and (21.1 ± 1.7) ml/s, IPSS scores were 7.0 (7.0, 8.0) and 7.0 (7.0, 8.0), and QOL scores were 3.0 (3.0, 3.0) and 3.0 (2.0, 3.0), respectively. There were no significant differences in Q max, IPSS and QOL between the two groups (all P > 0.05). Conclusions:Transurethral plasmakinetic bipolar enucleation of the prostate is also feasible for day surgery, and the short-term postoperative Q max, IPSS, hemoglobin reduction and other indicators have no significant difference compared with diode laser enucleation of the prostate, and can achieve the same efficacy and safety as diode laser enucleation of prostate.

Prostate biopsy is the gold standard for the diagnosis of prostate cancer. Currently, both conventional transrectal and transperineal prostatic puncture is guided by rectal ultrasound, but it cannot be performed in patients with abdominoperineal resection. We treated one suspected prostate cancer patient with abdominoperineal resection and successfully performed transperineal ultrasound-guided transperineal prostate biopsy.

Objective:To investigate the clinical characteristics and influencing factors of mortality in patients with intra-abdominal candidiasis (IAC).Methods:The retrospective case-control study was conducted. The clinicopathological data of 203 IAC patients who were admitted to 7 medical centers from June 2018 to June 2020 were collected, including 54 cases in Sir Run Run Shaw Hospital of Zhejiang University School of Medicine, 31 cases in Fujian Medical University Union Hospital, 25 cases in Beijing Hospital, 25 cases in the First Affiliated Hospital of Xi'an Jiaotong University, 24 cases in China-Japan Friendship Hospital, 22 cases in General Hospital of Eastern Theater Command of Chinese PLA and 22 cases in Chongqing University Cancer Hospital. There were 130 males and 73 females, aged (64±15)years. Observation indicators: (1) candida infection and treatment of IAC patients; (2) analysis of influencing factors for mortality of IAC patients. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M(range), and comparison between groups was analyzed using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Univariate and multivariate analyses were performed by Logistic regression model. Results:(1) Candida infection and treatment of IAC patients: 134 cases of candida albicans were cultured in the initial abdominal drainage fluid or intraoperative abdominal specimens of 203 patients, and 49 cases were treated with fluconazole. Of 69 cases infected with non candida albicans, 13 cases were treated with fluconazole. The resistance rate of candida albicans to fluconazole was 5.91%(12/203). Of 203 patients, there were 68 cases with infections shock, 53 cases with renal failure, 84 cases with respiratory failure and 63 cases with multiple organ failure, respectively. There were 148 of 203 patients admitted to intensive care unit for 9 days(range, 3-20 days), and the total hospital stay was 28 days(range, 17-50 days). Of 203 patients, 86 cases were cured and discharged, 50 cases were improved and transferred to local hospitals, 32 cases gave up treatment and discharged automatically, 19 cases died, 16 cases had no follow-up data. The mortality was 25.12%(51/203). (2) Analysis of influencing factors for mortality of IAC patients. Results of univariate analysis showed that acute physiology and chronic health evaluation score, sequential organ failure assessment score, the Cr, bilirubin, albumin, procalcitonin, and PLT on the first day of candida positive culture, of the lowest value in a week and the highest in a week, heart disease, diabetes, infections shock, renal failure, respiratory failure, multiple organ failure, anti-fungal therapy were the related factors for mortality of IAC patients ( t=-2.322, Z=-2.550, -2.262, -4.361, t=2.085, Z=-3.734, -5.226, -2.394, -5.542, t=3.462, Z=-4.957, -5.632, 3.670, -5.805, t=3.966, Z=-3.734, -5.727, χ2=4.071, 4.638, 27.353, 18.818, 13.199, 26.251, 13.388, P<0.05). Multivariate analysis showed that the bilirubin, procalcitonin on the first day of candida positive culture and infections shock were independent risk factors for mortality of IAC patients ( odds ratio=1.021, 1.022, 6.864, 95% confidence interval as 1.010-1.033, 1.001-1.044, 1.858-25.353, P<0.05). Conclusions:The common fungus of IAC was candida albicans, and fluconazole can be used as the initial empirical treatment. The prognosis of patients with abdominal candidiasis is poor. Bilirubin, procalcitonin on the first day of candida positive culture and infections shock are indepen-dent risk factors for mortality of IAC patients.

Objective:To understand the overall satisfaction rate with vaccination services in parents of children, and the impact of additional time consumed for vaccination service on overall satisfaction rate.Methods:From December 2019 to January 2020, a total of 3 178 parents of 0-3 years old children were investigated to collect the information about their basic characteristics, additional time spent for vaccination service and overall satisfaction through questionnaires. Binary logistic regression model and restricted cubic spline model were used to evaluate the impact of additional time spend on the overall satisfaction rate.Results:The overall satisfaction rate of parents with vaccination services was 92.32%. The median time for parents to move from home to vaccination clinic was 10.00 (10.00, 20.00) minutes, the median waiting time to make an appointment was 10.00 (5.00, 15.00) minutes, the median waiting time for vaccination was 5.00 (3.00, 10.00) minutes, and the median total additional time spent was 30.00 (20.00, 45.00) minutes. The binary logistic regression analysis showed that after adjusting the relevant factors, the main factors affecting the overall satisfaction rate were the waiting time for making an appointment (the 4- minutes group vs. 8- minutes group: OR=1.863, 95% CI: 1.307-2.657), waiting time for vaccination (the <4 minutes group vs. 8- minutes group: OR=1.529, 95% CI: 1.102-2.120; the 4- minutes group vs. 8- minutes group: OR=1.534, 95% CI: 1.104-2.130), total additional time spent (the 15- minutes group vs. 30- minutes group: OR=1.470, 95% CI: 1.094-1.976). Restricted cubic spline analysis showed that the waiting time for making an appointment (non-linear: χ2=13.18, P=0.001), the waiting time for vaccination (non-linear: χ2=13.50, P=0.001), and the total additional time consumed (non-linear: χ2=9.38, P=0.009) showed a non-linear inverted "V" dose response relationship to the overall satisfaction of vaccination services. Conclusions:The waiting time for parents to make an appointment, the waiting time for vaccination and the total additional time spent for receiving vaccination services affected the overall satisfaction rate of the vaccination services. And the waiting time for making an appointment was the most important factor, and it is necessary to shorten the waiting time for appointment. It is suggested that the vaccination clinic should make use of information technology (such as WeChat public account, APP) to make accurate appointments, make appointments to the time period to control the number of people within time period.