OBJECTIVE: To explore the clinical features and genetic etiology of two Chinese patients with Cowden syndrome (CS). METHODS: Two patients diagnosed with multiple gastrointestinal polyps by gastroenteroscopy at Henan Provincial People's Hospital in September and November 2023 were selected as the study subjects. Clinical data of the patients were collected. Whole exome sequence (WES) was carried out. Candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2018-03-01). RESULTS: The patients were diagnosed with multiple gastrointestinal polyps in addition with polypoid changes of the gallbladder. Genetic testing revealed that patient 1 has harbored a heterozygous c.738dupG (p.Leu247Valfs*6) variant of the PTEN gene, which was unreported previously. Patient 2 has harbored a heterozygous c.469G>T (p.Glu157Ter) variant of the PTEN gene, which was known to be pathogenic. None of their family members was found to harbor the above variants. Based on the guidelines from the American College of Medical Genetics and Genomics, both variants were rated as pathogenic (PVS1+PM2_Supporting+PP3+PP4). Bioinformatic analysis suggested that both variants can significantly affect the tertiary structure of the PTEN protein. CONCLUSION The heterozygous variants of the PTEN gene probably underlay the CS in both patients. Discovery of the novel variant has enriched the mutational spectrum of the PTEN gene.
Adult ; Female ; Humans ; Male ; China ; Hamartoma Syndrome, Multiple/genetics* ; Mutation ; Pedigree ; PTEN Phosphohydrolase/chemistry* ; East Asian People/genetics*

Objective To discuss the effect of multidisciplinary family empowerment mode in home care for patients after receiving percutaneous endoscopic gastrostomy(PEG).Methods A total of 86 patients,who received initial PEG at the Jilin Provincial Cancer Hospital of China from January 2021 to July 2023,were selected for this study.The patients were randomly divided into observation group.The patients of the control group received routine nursing guidance for gastrostomy,while the patients of the observation group received multidisciplinary family empowerment nursing mode.The self-care ability[using self-care ability scale of the elderly(SASE)score],health behavior ability[using self-rating scale of health behavior ability(SRAHP)score],incidence of complications,and healing time of complications were compared between the two groups.Results In the observation group the SASE[(129.48±5.48)points vs.(73.05±12.04)points]and the SRAHP[(80.14±1.00)points vs.(70.25±7.92)points]were significantly higher than those in the control group(all P＜0.05),the incidence of complications was lower than that in the control group,and the healing time of complications was shorter than that in the control group.Conclusion The implementation of multidisciplinary family empowerment nursing mode can improve the self-care ability and health behavior ability of patients after receiving PEG,reduce postoperative complications,as well as shorten the healing time of complications,therefore,this nursing mode is suitable for home patients after receiving PEG.

Patients who initiated peritoneal dialysis (PD) in Sichuan Provincial People's Hospital from January 1, 2001 to December 31, 2013 were enrolled in the single center and retrospective study. Clinical and laboratory data were collected to analyze the long-term survival rates, technique survival rates and associated influencing factors. Patients were followed up until December 31, 2021 or endpoints occurred (death or stopping PD treatment). Kaplan-Meier survival curves were used to estimate survival rates and technique survival rates. Cox proportional hazards regression model was used to analyze the risk factors of death and technique failure in PD patients. A total of 373 patients were enrolled in the study, with age of (52.1±15.8) years old and 199 (53.4%) males. During the follow-up, 154 (41.3%) patients died, 72 (19.3%) patients transferred to hemodialysis, and 40 (10.7%) patients received kidney transplant. Kaplan-Meier survival curves revealed that overall survival rates of PD patients at 1, 3, 5, 7, and 10 years were 92.2%, 76.6%, 66.0%, 52.4% and 38.6%, respectively. Technique survival rates were 93.5%, 84.8%, 74.2%, 62.8% and 44.5% at 1, 3, 5, 7, and 10 years, respectively. Multivariate Cox regression model results showed that age ( HR=1.055, 95% CI 1.039-1.073, P<0.001), transfer from hemodialysis ( HR=2.212, 95% CI 1.514-3.231, P<0.001), episodes of peritonitis ( HR=2.141, 95% CI 1.194-3.837, P=0.011), Charlson comorbidity index ( HR=1.525, 95% CI 1.305-1.783, P<0.001), and baseline albumin ( HR=0.951, 95% CI 0.925-0.978, P<0.001) were independent influencing factors of survival in PD patients. Episodes of peritonitis ( HR=2.327, 95% CI 1.274-4.250, P=0.006) and Charlson comorbidity index ( HR=1.244, 95% CI 1.035-1.496, P=0.020) were independent influencing factors of technique survival in PD patients. PD patients have good early survival rates and technical survival rates, but long-term outcomes need to be further improved. Peritonitis is a major risk factor for low long-term survival rates and technical survival rates in PD patients.

Objective:To clarify the connotation of clown care by conceptual analysis of clown care, so as to provide references for clinical nursing work.Methods:Literature related to clown care was searched in PubMed, EBSCO, Embase, CNKI, Wanfang Database and VIP, and the search period was from the establishment of the databases until August 31, 2022. Based on the inclusion and exclusion criteria, literature was screened. The Rodgers evolutionary concept analysis method was adopted to analyze the relevant contents of clown care from aspects of development history, definition and evolution, conceptual attributes, typical cases, antecedents, consequences and identification of related concepts.Results:A total of 463 articles were retrieved, and 94 were finally included, including 8 Chinese articles and 86 English articles. At present, there was no unified and comprehensive definition of clown care. It included 5 conceptual attributes, such as support relationship, individuation, interaction, flexibility and empowerment. The antecedents included demographic, clown, and social factors, and the consequences mainly included the effect on the patient's health status, negative emotions of medical staff, clown care skills and creativity.Conclusions:Clarifying the concept of clown care can provide clear conceptual support for the research on clown care, and provide references for the construction of scientific clown care program.

Objective To conduct a retrospective study on the clinical efficacy with endoscopic linea alba plication (ELAP) in the treatment of postpartum diastasis recti abdominis muscles. Methods Clinical data was collected to study the patients with postpartum diastasis recti abdominis muscles treated by ELAP in our hospital from January 2018 to December 2021. The operation was performed successfully in 48 cases. One case was lost follow-up and 47 cases were included in this study. Mean age was (34.9±4.2) years with body mass index (BMI) (20.1±2.0) kg/m2. The index of patients included general data, intraoperative data and postoperative recovery. Follow-up was done through out-patient examination and B-mode ultrasonography until to March 2022. Results The inter-rectus distance (IRD) in umbilical area (M3) shown by ultrasound examination was (41.6±8.2) mm. There were 10 cases combined with umbilical hernia and 2 cases with linea alba hernia. ELAP was performed under general anesthesia. All hernia rings were closed by suturing. The operative time was (130.9±36.0) min. Visual analog scale was (1.2±0.6) on the 1st postoperative day with postoperative hospital stay (1.5±0.9) d. Two cases had mild seroma postoperatively with puncture and absorption under B-ultrasound guiding. Remaining cases were without operative complications such as bleeding and infection of incision. Followed up of 47 cases was completed in the period of median 15(12, 26) months. One case had mild pain in the operative site and cured after non-operative treatment. Ultrasound examination in the other case showed 57.0 mm of IRD in M3 area preoperative and normal in the follow-up of 1 month postoperative. However, there was mild recurrence on 3 months of follow-up showing IRD 21.0 mm. Conclusions ELAP could be considered safe and effective in the treatment of postpartum diastasis recti abdominis muscle.

Objective:To summarize the clinical and genetic characteristics of Potocki-Shaffer syndrome (PSS).Methods:A retrospective study was conducted to analyze the clinical data of 1 patient diagnosed with PSS in the Department of Pediatrics of the Sixth Affiliated Hospital, Sun Yat-Sen University at February 2021.The data analyzed included clinical manifestations, biochemical tests and gene tests.Meanwhile, studies were retrieved from the China National Knowledge Internet database, Wanfang database, and PubMed database from the establishment of the database to December 2021 by taking " Potocki-Shaffer syndrome" " EXT2 gene" " AlX4 gene" and " PHF21A gene" as key words.Besides, genes were searched from the Online Frontal Analysis Mendelian Inheritance in Man.The clinical and genetic features of PSS patients were summarized. Results:The patient was 5 months and 21 days old, male, who was admitted to the hospital due to excessive growth in body mass for the past 3 months.The patient showed mental and motor retardation, overgrowth, concealed penis, hearing loss, and hypotonia.Whole exon sequencing of this patient revealed heterozygous deletions in the Chr11: 44069455-48188946 region, including the deletions of 3 autosomal dominant genes: EXT2, ALX4, and PHF21A.The patient was diagnosed with PSS.A total of 14 articles published in English were collected, involving this boy and other 35 patients.In these patients, 14 cases had point mutations, and 22 cases had large deletions. PHF21A gene variation was detected in 23 cases (dysgnosia in 22 cases, dyskinesia in 21 cases, language development delay in 18 cases). EXT2 gene variation was observed in 22 cases (exostoses in 13 cases). ALX4 gene variation was found in 19 cases (bilateral parietal foramina in 15 cases). Of 36 cases, 27 cases had craniofacial anomalies. Conclusions:The main clinical symptoms of PSS are language and motor developmental delay, intellectual disability, exostoses, bilateral parietal foramina, and craniofacial anomalies, which are closely related to 3 autosomal dominant genes ALX4, EXT2 and PHF21A.Genetic testing facilitates the clinical diagnosis of PSS, and the mutation types are dominated by point mutations and large deletions.

Objective:To evaluate the effect of pectoral nerve block type Ⅱ combined with esketamine on anxiety and depression in the patients with breast cancer undergoing modified radical mastectomy under general anesthesia.Methods:Eighty-four female patients, aged 18-64 yr, of American Society of Anesthesiologists physical status Ⅰor Ⅱ, with body mass index of 18-25 kg/m 2, undergoing elective first-time modified radical mastectomy for unilateral breast cancer, were divided into 2 groups ( n=42 each) using a random number table method: routine group (R group) and pectoral nerve block type Ⅱ combined with esketamine group (PS group). Sufentanil was used for anesthesia induction and postoperative patient-controlled intravenous analgesia (PCIA) in group R, esketamine was used for anesthesia induction and postoperative PCIA, and type Ⅱ thoracic nerve block was performed under ultrasound guidance after anesthesia induction in group PS, and the rest of the drugs used were the same in both groups.The observer′s assessment of awareness/sedation scale score was recorded at the end of surgery, 30 min after the end of surgery, and at 6, 12 and 24 h after surgery.The Hospital Anxiety and Depression Scale was used to assess patients′ anxiety and depression at 1 day before surgery and at discharge.The intraoperative consumption of anesthetics, emergence time, postanesthesia care unit stay time, pressing times of PCIA, requirement for rescue analgesia, hospital costs, length of postoperative hospital stay, satisfaction scores of surgeons and patients were recorded at discharge.The occurrence of adverse reactions was also recorded after operation. Results:Compared with group R, the observer′s assessment of awareness/sedation scale score were significantly increased at the end of surgery and 30 min after surgery, the consumption of propofol and remifentanil was decreased, the emergence time and postanesthesia care unit stay time were shortened, the incidence of nausea and vomiting was decreased, the Hospital Anxiety and Depression Scale score was decreased at discharge, the incidence of anxiety and depression was decreased, the satisfaction scores of surgeons and patients were increased, and the length of postoperative hospital stay was shortened in group PS ( P<0.05). Conclusions:Pectoral nerve block type Ⅱ combined with esketamine can optimize the efficacy of anesthesia and relieve early postoperative anxiety and depression in the patients undergoing modified radical mastectomy for breast cancer under general anesthesia.

Objective:To investigate the protective effect and mechanism of Acronychia pedunculata water extracts on UV-induced light damage of human keratinocytes.Methods:The experiment was conducted from December 2018 to April 2020 in the Guangxi Medical University Laboratory of Genetics. The photoaged keratinocyte model was used, the cells were co-cultured with different concentrations of Acronychia pedunculata water extracts. The cell proliferation rate was detected by CCK-8 method. The levels of reactive oxygen species (ROS), malondialdehyde (MDA), superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPX) and total antioxidant capacity (T-AOC) of cells were detected by a test kit. The levels of IL-1β, IL-6 and tumor necrosis factor-alpha (TNF-α) were determined by ELISA.Results:The proliferation of HaCaT cells was promoted by 0.5 mg/L-2.0 mg/L of the extracts. Compared with control group, the proliferation rate of HaCaT cells in the experimental group was significantly increased ( P<0.05). Compared with control group, the contents of ROS was decreased ( F=214.67, P<0.05), MDA was decreased ( F=811.88, P<0.05), SOD was increased ( F=28.95, P<0.05), CAT was increased ( F=213.31, P<0.05), GPX was increased ( F=65.10, P<0.05), T-AOC was increased ( F=305.58, P<0.05), IL-1β was decreased ( F=15.46, P<0.05), IL-6 was decreased ( F=59.2, P<0.05), and TNF-α was decreased ( F=33.13, P<0.05). Conclusions:The extracts of 0.5-2.0 mg/L of Acronychia pedunculata have protective effects on the photoaging cell model, which may be related to the increase of SOD, CAT, GPX and other antioxidant enzymes and the level of T-AOC in photoaging HaCaT cells, and the decrease of ROS, MDA content and the expression of inflammatory cytokines.

Objective:To analyze the clinical characteristics of anti-cyclic citrullinated peptide (CCP) antibody-negative rheumatoid arthritis (RA) patients.Methods:To retrospectively analyze the medical records of RA patients hospitalized in the department of rheumatology and immunity of Peking University Third Hospital from January 2013 to December 2018, we collected the baseline characteristics, joint manifestations, extra-articular manifestations, and laboratory parameters of RA patients, and compared the differences between anti-CCP antibody-negative patients and anti-CCP antibody-positive patients by U test and chi-square test. Results:A total of 486 RA patients were included in this study, including 153 anti-CCP antibody-negative patients (31.5%) and 333 anti-CCP antibody-positive patients (68.5%). Compared with anti-CCP antibody-positive group, anti-CCP antibody-negative group had shorter disease course ( U=-4.750, P<0.01) and the pro-portion of morning stiffness, shoulder or elbow joint involvement, and hand arthritis ( P<0.05) was lower, while the incidence of phlebothrombosis of leg ( χ2=4.100, P=0.043) was higher, as well as thrombocytosis ( U=-2.179, P=0.029) and elevation of CRP ( U=-2.154, P=0.03). Subgroup analysis based on RF showed that CCP RF + group had higher percentage of women ( P=0.042) and higher incidence of interstitial lung disease ( χ2=5.652, P=0.017) and secondary Sj?gren's syndrome ( χ2=11.211, P=0.001), compared with CCP RF - group. Conclusion:anti-CCP antibody-negative-patients have similar clinical char-acteristics with anti-CCP antibody-positive group, but the involvement of shoulder or elbow joint and hand arthritis are less common in anti-CCP antibody-negative group. Meanwhile the incidence of phlebothrombosis of leg is higher, and the level of platelet(PLT) and C-reactive protein (CRP) is higher, suggesting that anti-CCP antibody-negative RA may have more vident inflammatory response.

Five patients with mediastinal bronchogenic cyst (MBC) were treated with endoscopic submucosal tunnel dissection (ESTD) between January 2018 and October 2019 at the Department of Gastroenterology in Henan Provincial People′s Hospital. Lesions were located in the middle or lower esophageal level, with diameters≤3.5 cm. The tunnel establishment time was 13-18 min, and the tumor stripping time was 30-51 min. The number of titanium clips used for tunnel closure was 5-8. The tumors were completely resected. No major bleeding or hypoxemia occurred during the operation and no serious adverse reactions occurred after the operation. Postoperative pain scores were all ≤3. The hospital stay was 4-7 days. There was no tumor residue and recurrence during 4-23 months of follow-up.It is suggested that ESTD for MBC which derived from post mediastinum and located at the lower or middle level esophagus is safe and effective.