OBJECTIVE: To explore the clinical characteristics and genetic etiology of STISS syndrome (an autosomal dominant disorder characterized by ubiquitin-proteasome system dysfunction) in a child. METHODS: A child with STISS syndrome diagnosed at the Affiliated Women and Children's Hospital of Ningbo University in September 2024 due to "abnormal development of external genitalia" was selected as the study subject. Clinical data were retrospectively collected. Peripheral blood samples were obtained from the child and his family members. Following genomic DNA extraction, whole-exome sequencing (WES) and Sanger sequencing validation were carried out. Pathogenicity of the candidate variants was assessed based on the guidelines from American College of Medical Genetics and Genomics (ACMG). The study was approved by the Ethics Committee of the hospital (Ethics No.: EC2023-094). RESULTS: The proband, a 16-year-old boy, presented with micropenis, testicular hypoplasia, delayed sexual development, insulin resistance, diabetes mellitus, and obesity. WES revealed that he has harbored a c.934del; p.Met312TrpfsTer3 frameshifting variant of the PSMD12 gene, which was unreported previously. Sanger sequencing confirmed that the variant to be de novo in origin. Based on the guidelines from the ACMG, the variant was classified as pathogenic (PVS1+PM2_supporting+PM6_supporting). The variant was predicted to result in a premature termination codon. Bioinformatics analysis suggested that the amino acid at position 312 is highly conserved, and the variant may therefore affect the protein structure. CONCLUSION Patients with STISS syndrome exhibit clinical features including psychomotor retardation, intellectual disability, distinctive facial features, and urogenital abnormalities. The c.934del (p.Met312TrpfsTer3) frameshift variant of the PSMD12 gene probably underlay the pathogenesis in the proband. Above finding has enriched the mutational spectrum of the PSMD12 gene.
Adolescent ; Humans ; Male ; Exome Sequencing ; Mutation ; Proteasome Endopeptidase Complex/genetics* ; Syndrome

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.

Oromandibular dystonia (OMD) is a type of Meige syndrome, which is characterized by involuntary repeated abnormal postured contraction of bilateral masticatory muscles, orbicularis oris muscles and mimetic muscles. Involved nerves are buccal branch of facial nerve, mandibular marginal branch and/or mandibular branch of trigeminal nerve. At present, the pathogenesis of OMD is still unclear, and no specific treatment for OMD is noted. This article reviews the pathogenesis, clinical manifestations, classifications, diagnoses, differential diagnoses and treatments of oromandibular dystonia in order to strengthen the understanding of the disease.

OBJECTIVES: To investigate the effect of progressive pre-disconnection of urethral mucosal flap during transurethral plasmakinetic enucleation of prostate (TUPEP) on early recovery of urinary continence. METHODS: Clinical data of patients with benign prostatic hyperplasia (BPH) admitted in Zhujiang Hospital of Southern Medical University during February and May 2022 were collected. All the patients underwent TUPEP, and the progressive pre-disconnection of urethral mucosal flap was performed in the procedure. The total operation time, enucleation time, postoperative bladder irrigation time and catheter indwelling time were recorded. Urinary continence was evaluated 24 h, 1 week, and 1, 3, 6 months after the removal of urinary catheter. RESULTS: All surgeries were successfully completed at one time with less intraoperative bleeding, and there were no complications such as rectal injury, bladder injury or perforation of prostate capsule. The total operation time was (62.2±6.5) min, the enucleation time was (42.8±5.2) min, the postoperative hemoglobin decrease by (9.5±4.5) g/L, the postoperative bladder irrigation time was (7.9±1.4) h, and the postoperative catheter indwelling time was 10.0 (9.2, 11.4) h. Only 2 patients (3.6%) had transient urinary incontinence within 24 h after catheter removal. No urinary incontinence occurred at 1 week, and 1, 3, 6 months after operation, and no safety pad was needed. The Qmax at 1 month after operation was 22.3 (20.6, 24.4) mL/s, international prostate symptom scores were 8.0 (7.0, 9.0), 5.0 (4.0, 6.0) and 4.0 (3.0, 4.0) at 1, 3 and 6 months after surgery, and quality of life scores at 1, 3 and 6 months after surgery were 3.0 (2.0, 3.0), 2.0 (1.0, 2.0) and 1.0 (1.0, 2.0), all of these indicators were better than those before surgery (all P<0.01). CONCLUSIONS In the treatment of BPH, the application of progressive pre-disconnection of urethral mucosal flap in TUPEP can completely remove the hyperplastic glands and promote early recovery of postoperative urinary continence with less perioperative bleeding and decreased surgical complications.
Male ; Humans ; Prostate ; Prostatic Hyperplasia/surgery* ; Transurethral Resection of Prostate/methods* ; Quality of Life ; Urinary Bladder ; Urinary Incontinence/surgery* ; Treatment Outcome

Background and purpose:The Shanghai Municipal Center for Disease Control and Prevention provides annual updates on cancer occurrence and trends in Shanghai.This study aimed to investigate the cancer incidence and mortality in 201 7 and their trends from 2002 to 2017 in Shanghai. Methods:Data of new cancer diagnoses and deaths from 2002 to 2017 were obtained from the Shanghai Municipal Center for Disease Control and Prevention population-based cancer registry and Vital Statistics System.Cancer incidence and mortality stratified by year of diagnosis or death,gender and age group were analyzed.Number,proportion,crude rate,age-specific rate,age-standardized rate and others were calculated.The number,proportion and rates of common cancers in different groups were also calculated.Trends in age-standardized rate of incidence and death rates for all cancers combined and for the common cancer types by gender were estimated by joinpoint analysis and characterized by the annual percent change(APC)and average annual percent change(AAPC).Segi's 1960 world standard population was used for calculating age-standardized incidence and mortality. Results:The new cancer cases and deaths were 79 378 and 37 186 in Shanghai in 2017.The crude rate of incidence was 546.55/105,and the age-standardized rate was 246.31/105.The age-standardized rate of incidence was higher among females than among males.The crude rate of mortality was 256.04/1 05,and the age-standardized rate was 88.41/105.The age-standardized rate of mortality was higher among males than among females.The age-specific numbers and rates of incidence and mortality increased with age.The age-specific number and rate of incidence reached the peak at the age groups of 60-64 years and older than 85 years,and those of mortality among males reached the peak at the age groups of 60-64 years and older than 85 years,and those of mortality among females reached the peak at the age groups of older than 85 years,respectively.The sites of top 10 common cancer types sorted by the number of incidence cases among males were lung,colorectum,stomach,prostate,liver,thyroid,pancreas,bladder,kidney and oesophagus,and among females were lung,breast,thyroid,colorectum,stomach,pancreas,liver,brain,central nervous system(CNS),cervix uteri and gallbladder,the sites of those sorted by the number of deaths among males were lung,stomach,colorectum,liver,pancreas,prostate,oesophagus,bladder,lymphoma and gallbladder,among females were lung,colorectum,breast,stomach,pancreas,liver,gallbladder,brain,CNS,ovary and lymphoma.The top 10 common cancer types stratified by gender and the top 5 common cancer types stratified by common age groups merged of incidence and mortality had wide variations.Overall,the age-standardized rates of incidence were stable from 2002 to 2009,and increased 2.88％on average per year from 2009 to 201 7.The age-standardized rates of mortality were stable from 2002 to 2011,and decreased 2.66％on average per year from 2011 to 201 7.The trends differed by gender and cancer type. Conclusion:Lung cancer,colorectal cancer,pancreatic cancer,thyroid cancer,female breast cancer,cervical cancer and male prostate cancer are the most common cancers in Shanghai,the appropriate screening technical scheme should be formulated according to the current situation of malignant tumors in Shanghai,promote cancer opportunistic screening,promote appropriate technologies for intervention and management of cancer patients in the community,reduce the disease burden of malignant tumors.