OBJECTIVE: To explore the clinical phenotype and genetic characteristics of four patients with Phelan-McDermid syndrome (PMS) due to variants of SHANK3 gene. METHODS: Four patients diagnosed with PMS at Guangzhou Women and Children's Medical Center Liuzhou Hospital from January 2020 to January 2025 were selected as the study subjects. Clinical data of the patients were collected. Peripheral venous blood samples were collected from each patient for the extraction of genomic DNA, followed by whole-exome sequencing (WES) and validation by Sanger sequencing. Pathogenicity of candidate variants was rated based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), and multiple bioinformatic tools were used to assess the pathogenic effects of the variants. The study was approved by the Ethics Committee of the Hospital (Ethics No. 2025-007). RESULTS: All four patients had exhibited language delay and intellectual disability (IQ 35 ~ 65). Some also presented with autism spectrum disorder and schizophrenia, albeit with significant phenotypic heterogeneity. All patients were found to harbor deletions of 22q13.33 region, ranging from 55.46 Kb to 112.64 Kb, primarily involving the SHANK3 gene. CONCLUSION PMS is typically caused by deletions or mutations of the SHANK3 gene. The clinical manifestations are diverse, with developmental delay and intellectual disability being the most common. Accurate diagnosis requires integration of genetic testing and standardized clinical assessment. Genetic screening for suspected patients and at-risk pregnant women is recommended to facilitate their genetic counseling.
Child ; Humans ; Chromosome Deletion ; Chromosome Disorders/genetics* ; Chromosomes, Human, Pair 22/genetics* ; Exome Sequencing ; Nerve Tissue Proteins/genetics* ; Phenotype

Objective:To explore the experience and learning curve of single-line suspension suction rod-assisted hybrid cavity-building thyroid surgery via the oral vestibular approach.Methods:Clinical data of 138 patients undergoing single-line suspension suction rod-assisted hybrid cavity-building thyroid surgery via oral vestibular approach from Sep. 2019 to Dec. 2021 in the Department of Thyroid and Breast Surgery of Affiliated Hospital of North Sichuan Medical College were retrospectively analyzed. The cumulative sum (CUSUM) method and best-fit curve analysis were used to compare the differences in each index such as operative time, intraoperative bleeding, number of lymph nodes cleared in the central region and postoperative related complications at various stages of the learning curve.Results:All 138 patients underwent single-line suspension rod-assisted hybrid cavity-building thyroid surgery via the oral vestibular approach, and one patient was converted to open surgery due to large intraoperative bleeding in the mass. There were 14 males and 124 females, mean age (36.07±8.49) years (20-55 years), thyroid tumor size (7.74±6.49) mm (2.4-50mm), 5 cases underwent Subtotal thyroidectomy, 129 cases underwent Unilateral lobectomy + lymph node dissection in the middle region, and 4 cases total thyroidectomy + central zone lymph node dissection. The number of surgical cases corresponding to the apex of the CUSUM learning curve was 45, and the learning curve was divided into two stages: the learning improvement stage (1-45 cases) and the mastery stage (46-138 cases). The operative time, intraoperative bleeding, postoperative hospital stay, and chin numbness were all lower in the proficiency period than in the learning and training period ( P<0.05), and the number of lymph nodes cleared in the central region was larger than that in the learning and improvement stage ( P<0.05), while the differences in other indexes between the two stages were not statistically significant ( P>0.05) . Conclusion:The single-line suspension suction rod-assisted hybrid cavity-building thyroid surgery via the oral vestibular approach has clinical application value and is worth promoting, and the number of surgical cases to be accumulated to master this technique is 45.

Objective:To explore the accuracy of mpMRI combined with Partin table, MSKCC nomogram and CAPRA score in predicting extracapsular extension and seminal vesicle invasion of prostate cancer.Methods:From January 2016 to June 2021, a total of 178 patients who underwent laparoscopic radical prostatectomy were selected. The average age of patients was (68.3±3.5) years, the average preoperative PSA level was (24.5±7.1)ng/ml, and the average percentage of positive cores in biopsy was 44.3%. The clinical T 1c stage was determined in 67 cases (37.6%), T 2a in 69 cases (38.8%) and T 2b-2c in 42 cases(23.6%). Biopsy Gleason score of 3+ 3=6 was found in 45 cases(25.3%), 3+ 4=7 in 41 cases(23.0%), 4+ 3=7 in 26 cases(14.6%), 8 with different combinations in 36 cases(20.2%), and 9 or 10 in 30 cases(16.9%). According to preoperative PSA level, biopsy Gleason score, clinical stage, age, total biopsy cores and positive cores, the posibility of extracapsular extension and seminal vesicle invasion were predicted using 2012-version Partin table and MSKCC nomogram. CAPRA score of each patient was calculated. The prediction schemes were built as follows: ①mpMRI alone, ②mpMRI combined with Partin scale, ③mpMRI combined with MSKCC nomogram, ④mpMRI combined with CAPRA score. The results of each prediction scheme were compared with postoperative pathological reports. Logistic regression analysis was used to evaluate the relationship between predictive results and postoperative pathological outcomes. The receiver operating characteristic curve of each prediction scheme was drawn. The area under curve was used to compare the predictive accuracy of each combination scheme for the pathological results of prostate cancer. The decision analysis curve of each prediction scheme was drawn. The clinical benefits of each scheme were analyzed by comparing the net return under different risk thresholds. Results:mpMRI predicted extracapsular extension in 21 cases(11.8%) and seminal vesicle invasion in 16 cases(9.0%). The postoperative pathological results reported extracapsular extension in 27 cases(15.2%) and seminal vesicle invasion in 39 cases(21.9%). Logistic regression analysis showed that mpMRI and clinical scales were predictors related to the pathological results of prostate cancer( P<0.05). The receiver operating characteristic curve of each scheme showed that the area under curve for predicting extracapsular extension by using mpMRI, mpMRI combined with Partin table, mpMRI combined with MSKCC nomogram and mpMRI combined with CAPRA score were 0.599, 0.652, 0.763 and 0.780, respectively, and the area under curve for predicting seminal vesicle invasion were 0.607, 0.817, 0.826 and 0.820, respectively. Compared with simple application of mpMRI, except that the scheme of mpMRI combined with Partin table had no obvious advantage in predicting extracapsular extension( P=0.117), any other combined scheme had higher prediction accuracy( P<0.01). mpMRI combined with MSKCC nomogram or CAPRA score was better than mpMRI combined with Partin table in predicting extracapsular invasion ( P<0.01). There was no significant difference in predicting seminal vesicle invasion among these three combination schemes ( P>0.05). The net income of the combined prediction scheme was higher than that of using mpMRI alone under any risk threshold. The scheme of using mpMRI combined with MSKCC nomogram had the highest net income. Conclusions:mpMRI combined with clinical scales has good accuracy in predicting pathological characteristics of prostate cancer in Chinese population. Compared with other schemes in this study, the combination scheme of mpMRI combined with MSKCC nomogram has the highest prediction accuracy.

ObjectiveTo determine the risk factors associated with colorectal adenoma among the residents in Nanchang city， and provide scientific evidence for primary preventive measures against colorectal cancer. MethodsA matched case-control study was conducted. A total of 155 patients newly diagnosed with colorectal adenomas during 2018‒2019 were selected as cases， and 155 healthy persons attending the screening as controls. Both the case group and control group completed the questionnaires on the risk factors. Conditional logistic regression analysis was performed using SPSS 25.0. ResultsAge， gender， and educational level were used for match between case group and control group. Conditional multivariate logistic regression analysis showed that salted and dried food intake（OR=5.634， 95%CI：1.308‒24.256）， smoking（OR=3.266， 95%CI：1.419‒7.518）， passive smoking（OR=3.125，95%CI：1.415‒6.898）， and hyperlipidemia（OR=3.975， 95%CI：1.643‒9.618）were associated with higher risk of colorectal adenoma. In contrast， coarse grain intake ≥500 g/week（OR=0.377， 95%CI：0.177‒0.805） was a protective factor. ConclusionColorectal adenoma may be caused by multiple risk factors， particularly salted and dried food intake， smoking， passive smoking and hyperlipidemia. It warrants specific intervention to reduce the risk of colorectal adenoma.

Objective:To collate and analyze the screening results of high-risk lung cancer populations in communities in Nanchang from 2018 to 2019, and to explore the lung-positive nodules and risk factors for lung cancer.Methods:Data of the screening subjects in 8 administrative districts and 15 street health service centers in Nanchang city, Jiangxi province from November 2018 to October 2019 were collected, people at high risk of lung cancer was assessed, clinical screening of high-risk groups of lung cancer was conducted by low-dose helical computed tomography (LDCT), and risk factors for suspected lung cancer and lung-positive nodules were analyzed.Results:Of the 25 871 people participated in screening, 5 220 were at high risk for lung cancer and 15 374 without other malignant tumors were at high risk. There were 2 417 cases participated in clinical LDCT screening, including 193 cases of lung-positive nodules, 67 cases of suspected lung cancer, 912 cases of other lung diseases, the positive rate of lung cancer or lung-positive nodules was 10.76% (260/2 417). Univariate analysis showed that age, coarse grain intake, oil intake, housing heating, passive smoking, alcohol consumption and mental trauma were associated with positive pulmonary nodules or lung cancer (all P<0.05). Multivariate analysis showed that gender, age, housing heating, smoking and drinking were related to the occurrence of lung nodules or lung cancer (all P<0.05). Conclusions:Men are more likely to develop lung cancer or lung-positive nodules than women. The age is an independent risk factor for lung-positive nodules or lung cancer. In a certain range, age will increase the incidence of lung cancer, housing heating may be the protective factor for lung cancer, while smoking and drinking are risk factors.

Objective By comparing the physical properties (cell area, volume and elastic modulus) of red blood cells (RBCs) between newborn infants and the elderly over 80 years old, and correlation with the physiological and biochemical parameters such as total cholesterol and glycosylated hemoglobin, the effects of different ages and biochemical parameters on RBC physical properties were analyzed. Methods The mcropipette aspiration was used to measure the surface area, volume and elastic modulus of erythrocytes in newborn infants and the elderly over 80 years old, and the data were analyzed by statistical distribution analysis, correlation analysis and regression analysis. Results The mean values of RBC volume, surface area and elastic modulus in the elderly over 80 years old were smaller than those in newborn infants, and the mean values of RBC mechanical parameters in the same age group were not significantly different. The erythrocytes geometric parameter distribution of newborn infants was more concentrated than that of the elderly, while the elastic modulus distribution of newborn infants was more dispersed than that of the elderly. The mechanical properties of RBCs in newborn infants were highly correlated with the total cholesterol and gestational week; the mechanical properties of RBCs in the elderly were highly correlated with diastolic blood pressure and glycated hemoglobin. Conclusions There are significant differences in physical properties of RBCs between newborn infants and the elderly over 80 years old, and the biochemical parameters that affect physical properties of RBCs at different ages are also different.

Objectives:To validate the Chinese version of the Ureteral Stent Symptoms Questionnaire(Chinese-USSQ) in patients with an indwelling ureteral stent.Methods:The original USSQ was translated into Chinese and linguistically validated following the cross-cultural adaptation of health-related quality of life measures.A total of 83 patients (cases) with indwelling ureteral stent and 90 healthy subjects (controls) were asked to complete the Chinese-USSQ as well as European Quality of Life Visual Analogue scale(EQ-VAS)(for both genders), the International Prostate Symptom Scale (IPSS) (for male), and Urogenital Distress Inventory-6 (for female). Patients were evaluated at weeks 1 and 4 after stent placement and at week 4 after removal. The psychometric properties of the questionnaire were analyzed.Results:The Chinese version of USSQ include 43 items, which addressed various domains of health(6 sections) covering urinary symptoms, pain, general health, work performance and sexual matters with additional problems. A total of 78 patients(45 males and 33 females) and 90 controls (41 males and 49 females)were included for analysis. Internal consistencies (Cronbach′s α coefficients: 0.60-0.78) and test-retest reliability (Spearman correlation coefficient: 0.69-0.91) were satisfactory for urinary symptom, body pain, general health, and work performance domains. Most USSQ domains showed moderate correlations with each other. The convergent validity determined by correlation between other instruments and corresponding USSQ domain was satisfactory. At week 4 it was moderate for the urinary symptoms index compared to the IPSS in men(Spearman correlation coefficient>0.60), for the urinalry symptoms index compared to the UDI-6 score in women(Spearman correlation coefficient 0.52).Sensitivity to change and discriminant validity were also good in most domains ( P<0.01). Only a small proportion of the study population had an active sexual life with the stent in situ, which limited its analysis. Only 1(1.3%) and 6(7.7%) patients had an active sex life at week 1 and 4 after stent placement; meanwhile, 34(43.6%) patents were sexually active at week 4 after stent removal. Conclusion:The Chinese version of the USSQ is a reliable and valid instrument that can be used for Chinese patients with a indwelling ureteral stent in the clinical and research settings.

Objective:To collate and analyze the screening results of high-risk lung cancer populations in communities in Nanchang from 2018 to 2019, and to explore the lung-positive nodules and risk factors for lung cancer.Methods:Data of the screening subjects in 8 administrative districts and 15 street health service centers in Nanchang city, Jiangxi province from November 2018 to October 2019 were collected, people at high risk of lung cancer was assessed, clinical screening of high-risk groups of lung cancer was conducted by low-dose helical computed tomography (LDCT), and risk factors for suspected lung cancer and lung-positive nodules were analyzed.Results:Of the 25 871 people participated in screening, 5 220 were at high risk for lung cancer and 15 374 without other malignant tumors were at high risk. There were 2 417 cases participated in clinical LDCT screening, including 193 cases of lung-positive nodules, 67 cases of suspected lung cancer, 912 cases of other lung diseases, the positive rate of lung cancer or lung-positive nodules was 10.76% (260/2 417). Univariate analysis showed that age, coarse grain intake, oil intake, housing heating, passive smoking, alcohol consumption and mental trauma were associated with positive pulmonary nodules or lung cancer (all P<0.05). Multivariate analysis showed that gender, age, housing heating, smoking and drinking were related to the occurrence of lung nodules or lung cancer (all P<0.05). Conclusions:Men are more likely to develop lung cancer or lung-positive nodules than women. The age is an independent risk factor for lung-positive nodules or lung cancer. In a certain range, age will increase the incidence of lung cancer, housing heating may be the protective factor for lung cancer, while smoking and drinking are risk factors.

Objective:To discuss the clinical manifestation, diagnosis and treatment of upper urinary tract calculi complicating with emphysematous pyelonephritis(EPN).Methods:The clinical data of 5 cases of upper urinary tract calculi complicating with EPN diagnosed in our department from July 2012 to December 2019 were retrospectively analyzed, and literatures were reviewed. 5 patients were identified by computed tomography scanning to upper urinary tract calculi complicating with EPN, 3 female and 2 male, aged 40-67 years, 2 staghorn calculi and 3 multiple stones. One patient suffered from diabetes mellitus. All cases presented with fever at the enrollment point, and the body temperature were 38.7℃, 38.8℃, 37.5℃, 38.6℃, 40.0℃, respectively. And the number of white blood cells and neutrophile granulocyte of these cases were higher than normal reference value, were 17.2×10 9/L, 0.90; 14.9×10 9/L, 0.89; 11.2×10 9/L, 0.85; 15.1×10 9/L, 0.87; 13.3×10 9/L, 0.88, respectively. The C-reactive protein were increased in all of the cases, especially in case 1(68 mg/l), case 2(253 mg/l), and case 5(67 mg/l). And 3 cases with renal insufficiency. Case 3 and case 4 were controlled the infection with medical management alone, and case 5 with percutaneous drainage plus medical management. The pyelonephritis of other 2 cases were uncontrolled, the body temperature of case 1 returned to normal after treated with percutaneous drainage of perirenal abscess plus nephrostomy plus medical management, but the imaging findings of kidney was not relief by CT scan after 4 weeks. Case 2 was persistent fever until treated with fluconazole according to the medicine sensitive experiment’s result of urine culture after undergoing nephrostomy plus indwelled a double J tube in ureter, but the CT findings of kidney grew worse 1 week later. Results:Of the 5 patients, 1 received first-stage nephrostomy and second-stage percutaneous nephrolithotomy, 2 received same session surgery, 2 received nephrectomy. There was no complications occurred except postoperative fever in 1 case. Postoperative pathology of the nephrectomy revealed glomerular sclerosis, glomerulus dilation, and inflammatory granulation tissue was formed. And 1-84 months follow-up showed no recurrence in all the cases.Conclusions:Upper urinary tract calculi complicating with EPN is an rare acute severe infection, CT is the best choice of early diagnosis, double J stenting or percutaneous drainage of abscess with broad-spectrum antibiotics could be the preferred treatment.

Objective To investigate the safety and efficacy of wide local excision surgery combined with 5-aminolaevulinic acid(ALA)-photodynamic therapy(PDT)in treating Paget's disease of the scrotum in elderly people.Methods Patients with an average age of 68.4 ± 4.7 years undergoing wide local excision surgery combined with ALA-PDT for Paget's disease of the scrotum from June 2014 to February 2018 were followed up.All patients underwent wide local excision surgical treatment first and were then enrolled in ALA-PDT study after the diagnosis of Paget's disease of the scrotum was confirmed.Four cases were eliminated as a result of two patients refusing photodynamictherapy for various reasons and two patients lost during follow-up after ALA-PDT.A total of 16 patients were included in the study,of whom 6 cases were in Ray stage A1,7 cases in stage A2 and 3 cases in stage B.Patients underwent 3 courses of ALA-PDT after operation.Then the efficacy,shortand medium-term complications were followed up.Results The duration of disease among the 16 patients ranged from 4 to 76 months before diagnosis,with an average of 35.7 months.Surgery was performed immediately after diagnosis.Ten patients underwent resection and suture and 6 patients were treated with skin flap transfers.Of the patients treated with surgery,3 patients received suspicious lymph node dissection and 1 patient underwent reoperation due to skin flap necrosis.Patients were followed up for 3 months to 3 years and 6 months after ALA-PDT.Recurrence and distant metastasis occurred in 2 cases,with 1 case of brain metastasis and 1 case of systemic metastasis,and the overall recurrence rate was 12.5％.During the follow-up,there were no other serious complications except for 1 case(6.3 ％)with lower limb movement disorders.Conclusions Wide local excision surgery combined ALA-PDT has good clinical outcomes,low recurrence rates and few complications for the treatment of Paget's disease of the scrotum in elderly people.