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

Precision medicine, based on personalized medicine, is to provide personalized and precise treatment. The emergence of 3D printing technique as well as genome sequencing provides an effective way to realize precise and personalized treatment. The application of 3D printing technique in the field of surgery is listed as following: optimize operation plan to achieve precise and personalized surgery; design personalized navigation template; personalized prosthesis production; design of personalized tissue and organ. With the development of tissue engineering, new material technology and genome sequencing and the improvement in related polices and regulations, precision medicine will step on a higher level in the field of surgery. This review introduces the application of precision medicine in the field of surgery.
General Surgery ; Humans ; Precision Medicine ; Printing, Three-Dimensional ; Prostheses and Implants ; Tissue Engineering

OBJECTIVETo explore the value of 3D printing technique in the surgical management and strategy of rehabilitation therapy of acetabular fracture.

METHODSFor a patient with acetabular fracture, the pelvis model was printed preoperatively by 3D printing technique for surgical simulation to determine the optimal position of the screw, measure the screw length, and design the route of screw entry. Laparoscopic assisted internal fixation was performed, and a gradual and systematic rehabilitation plan was carried out after the surgery based on the results of simulation.

RESULTSThe operation was completed successfully with a shortened postoperative recovery time.

CONCLUSIONSThe application of 3D printing allows more accurate and safer surgical management of acetabular fracture to promote postoperative recovery of the patient and lower the medical costs.

Adult ; Bone Screws ; Fracture Fixation, Internal ; methods ; Hip Fractures ; rehabilitation ; Humans ; Imaging, Three-Dimensional ; Male ; Postoperative Period ; Printing, Three-Dimensional ; Rehabilitation ; instrumentation ; methods

Objective To investigate the prevalence and risk factors of postpartum depression among female immigrants at Tianhe district of Guangzhou. Methods A total of 2021 migrant women postpartum in three hospitals at Tianhe district of Guangzhou were screened with Center for Epidemiological Survey Depression Scale , (CES-D), Social Support Rating Scale(SSRS) and self-made related factors questionnaire from May to December, 2013. Results This study showed postpartum depression affected 18.31% of migrant women at Tianhe district of Guangzhou. Unconditional logistic regression analysis showed a significant correlation of PPD with birth place , residence time,newborn disease,fetus gender and household income (P < 0.05). Multivariate logistic regression analysis identified birth place,residence time,newborn disease,fetus gender as the risk factors for PPD,household income was negatively correlated with the incidence of PPD with OR value of 0.680;Compared with healthy female immigrants, the total score of social support rating scale,the score of objective support,subjective support and social utilization degree were significantly reduced respectively in female immigrants with PPD. Conclusion The prevalence of PPD was high at Tianhe district of Guangzhou,health education and comprehensive social support system should be offered in order to prevent PPD.

OBJECTIVETo investigate the prevalence and related factors of abnormal pelvic floor muscle strength and provide theoretical evidence for the prevention and treatment of pelvic floor dysfunction.

METHODSA total of 1008 migrant women in hospitals of Guangzhou and Foshan were screened for pelvic floor strength at 42 days postpartum from Oct, 2013 to July, 2014. EMG biofeedback equipment was employed to assess the strength of type I and II muscle fiber and a questionnaire was designed to record its related factors.

RESULTSThe incidence of abnormal type I and II muscle fiber strength was 49.21% and 49.60%, respectively. No statistical significance was observed in the abnormal rates among women with different ages or occupations. Compared with women who chose vaginal delivery, women with cesarean section had significantly reduced abnormal rates. A negative correlation was found between parity and type I and II muscle fiber strength.

CONCLUSIONThe delivery mode and parity are factors affecting pelvic floor muscle strength among migrant women in the Pearl River Delta, suggesting the necessity of health education and promotion of family planning policy.

Cesarean Section ; Delivery, Obstetric ; Female ; Humans ; Muscle Fibers, Skeletal ; physiology ; Muscle Strength ; Parity ; Pelvic Floor ; physiology ; Postpartum Period ; Pregnancy ; Transients and Migrants

OBJECTIVETo investigate the prevalence and risk factors of postpartum depression (PPD) in Tianhe district of Guangzhou.

METHODSA total of 1428 postpartum women in 3 hospitals in Tianhe District of Guangzhou were screened with Edinburg Postnatal Depression Scale (EPDS), Social Support Rating Scale (SSRS) and a self-designed questionnaire of PPD-related factors during the period from May to September, 2013.

RESULTSThe prevalence of PPD was 20.03% in these women. Unconditional logistic regression analysis showed a significant correlation of PPD with education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, newborn gender satisfaction and housing condition (P<0.05). Multivariate logistic regression analysis identified education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, and newborn gender satisfaction as the risk factors for PPD, and housing condition was negatively correlated with the incidence of PPD with an OR value of 0.900. Compared with healthy postpartum women, the patients with PPD exhibited significantly reduced total score of social support rating scale, score of objective support, score of subjective support, and social utilization degree.

CONCLUSIONThe prevalence of PPD is high in Tianhe District of Guangzhou, and health education and psychosocial intervention should be offered to prevent PPD.

Adult ; China ; epidemiology ; Depression, Postpartum ; epidemiology ; Female ; Humans ; Incidence ; Postpartum Period ; psychology ; Prevalence ; Risk Factors ; Young Adult

Objective To investigate the prevalence and risk factors of postpartum depression (PPD) in Tianhe district of Guangzhou. Methods A total of 1428 postpartum women in 3 hospitals in Tianhe District of Guangzhou were screened with Edinburg Postnatal Depression Scale (EPDS), Social Support Rating Scale (SSRS) and a self-designed questionnaire of PPD-related factors during the period from May to September, 2013. Results The prevalence of PPD was 20.03%in these women. Unconditional logistic regression analysis showed a significant correlation of PPD with education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, newborn gender satisfaction and housing condition (P<0.05). Multivariate logistic regression analysis identified education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, and newborn gender satisfaction as the risk factors for PPD, and housing condition was negatively correlated with the incidence of PPD with an OR value of 0.900. Compared with healthy postpartum women, the patients with PPD exhibited significantly reduced total score of social support rating scale, score of objective support, score of subjective support, and social utilization degree. Conclusion The prevalence of PPD is high in Tianhe District of Guangzhou, and health education and psychosocial intervention should be offered to prevent PPD.

Objective To explore the value of 3D printing technique in the surgical management and strategy of rehabilitation therapy of acetabular fracture. Methods For a patient with acetabular fracture, the pelvis model was printed preoperatively by 3D printing technique for surgical simulation to determine the optimal position of the screw, measure the screw length, and design the route of screw entry. Laparoscopic assisted internal fixation was performed, and a gradual and systematic rehabilitation plan was carried out after the surgery based on the results of simulation. Results The operation was completed successfully with a shortened postoperative recovery time. Conclusions The application of 3D printing allows more accurate and safer surgical management of acetabular fracture to promote postoperative recovery of the patient and lower the medical costs.

Objective To investigate the prevalence and risk factors of postpartum depression (PPD) in Tianhe district of Guangzhou. Methods A total of 1428 postpartum women in 3 hospitals in Tianhe District of Guangzhou were screened with Edinburg Postnatal Depression Scale (EPDS), Social Support Rating Scale (SSRS) and a self-designed questionnaire of PPD-related factors during the period from May to September, 2013. Results The prevalence of PPD was 20.03%in these women. Unconditional logistic regression analysis showed a significant correlation of PPD with education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, newborn gender satisfaction and housing condition (P<0.05). Multivariate logistic regression analysis identified education, delivery mode, only daughter, relationship between mother-in-law and daughter-in-law, and newborn gender satisfaction as the risk factors for PPD, and housing condition was negatively correlated with the incidence of PPD with an OR value of 0.900. Compared with healthy postpartum women, the patients with PPD exhibited significantly reduced total score of social support rating scale, score of objective support, score of subjective support, and social utilization degree. Conclusion The prevalence of PPD is high in Tianhe District of Guangzhou, and health education and psychosocial intervention should be offered to prevent PPD.

Objective To explore the value of 3D printing technique in the surgical management and strategy of rehabilitation therapy of acetabular fracture. Methods For a patient with acetabular fracture, the pelvis model was printed preoperatively by 3D printing technique for surgical simulation to determine the optimal position of the screw, measure the screw length, and design the route of screw entry. Laparoscopic assisted internal fixation was performed, and a gradual and systematic rehabilitation plan was carried out after the surgery based on the results of simulation. Results The operation was completed successfully with a shortened postoperative recovery time. Conclusions The application of 3D printing allows more accurate and safer surgical management of acetabular fracture to promote postoperative recovery of the patient and lower the medical costs.