OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

OBJECTIVE: To summarize the clinical characteristics of foot and ankle deformities combined with knee and lower limb deformities and evaluate the advantages, clinical outcomes, and considerations of QIN Sihe's surgical strategy for treating such complex deformities. METHODS: Between January 2022 and December 2024, 32 patients with foot and ankle deformities combined with knee and lower limb deformities were enrolled. The cohort included 23 males and 9 females, aged 10-67 years (mean, 41.1 years). The main etiologies included post-polio sequelae (20 cases) and congenital limb deformities (3 cases). Deformities were categorized as follows: equinovarus foot (12 cases), equinus foot (2 cases), equinovalgus foot (3 cases), equinus foot with swan-neck deformity (2 cases), calcaneus foot (5 cases), foot valgus (2 cases), knee flexion deformity (14 cases), genu recurvatum (4 cases), genu varum (3 cases), genu valgum (3 cases), lower limb shortening (3 cases), and lower limb external rotation (6 cases). QIN Sihe's surgical strategies included osteotomies, tendon releases, and tendon transfers for deformity correction, followed by external fixation for residual deformity adjustment and stabilization. Outcomes were assessed using QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction. RESULTS: All patients were followed up 8-32 months (mean, 16.5 months). Complications included pin tract infection (1 case, 1 site), ankle pain (2 cases), delayed healing at the proximal tibial osteotomy site (1 case), and anterior talar dislocation (1 case). At last follow-up, insufficient correction of foot deformity was observed in 1 case; both knee and lower limb deformities were corrected, with only mild recurrence of knee flexion deformity in 1 case. The foot/ankle and knee joint function improved. Based on QIN Sihe's Postoperative Evaluation Criteria for Lower Limb (Foot and Ankle) Deformity Correction and Functional Reconstruction, outcomes were rated as excellent in 30 cases and good in 2 cases, with an excellent-good rate of 100%. CONCLUSION Foot and ankle deformities combined with knee and lower limb deformities are complex, QIN Sihe's surgical strategy can achieve satisfactory clinical outcomes for simultaneous correction.
Humans ; Male ; Female ; Adult ; Middle Aged ; Child ; Adolescent ; Aged ; Treatment Outcome ; Young Adult ; Plastic Surgery Procedures/methods* ; Lower Extremity Deformities, Congenital/surgery* ; Osteotomy/methods* ; Foot Deformities, Congenital/surgery* ; Ankle Joint/surgery* ; Knee Joint/surgery* ; Foot Deformities/surgery*

BACKGROUND:Primary cortical neurons and microglial cells play a crucial role in exploring cell therapies for neurological disorders,and most of the current methods for obtaining the two types of cells are cumbersome and require separate extraction.It is therefore crucial to find a convenient and rapid method to extract both types of cells simultaneously. OBJECTIVE:To explore a novel method for simultaneous extraction of primary cortical neurons and microglial cells. METHODS:Newborn suckling SD rats were taken within 24 hours.The brain was removed and placed in a dish with DMEM,and the pia mater was removed for later use.Primary neurons were extracted from the same brain tissue,and then the remaining brain tissue was used to extract microglial cells.The whole process was performed on ice.Extraction and culture steps of primary cortical neurons:The cerebral cortex was taken 2.0-3.0 mm with forceps,and the tissue was digested with papain for 20 minutes.After aborting digestion,the blown tissue presented an adherent tissue suspension.The supernatant cell suspension was obtained,filtered,and dispensed into 15 mL centrifuge tubes.After centrifugation and re-suspension,the cells were inoculated onto 6-well plate crawls coated with L-polylysine.Neuronal morphology was observed at 1-day intervals,and staining could be performed for identification using immunofluorescence staining of MAP2 and β-Tubulin by day 7.Microglia extraction and culture steps:The remaining brain tissue at 8-10 mm thick was subjected to microglial cell extraction,digested by trypsin for 20 minutes.After digestion was stopped,the tissue was blown to a homogenate,and then the homogenate was transferred to the culture bottle for culture.On day 14,the culture flasks were sealed and subjected to constant temperature horizontal shaking for 2 hours.Microglial cells were shed in the supernatant.Purified microglial cells were taken and continued to be cultured for 3 days for identification by Iba1 immunofluorescence staining. RESULTS AND CONCLUSION:(1)After 24 hours of culture,the neurons were adherent to the wall,the cytosol was enlarged,and some neurons developed synapses.After 3 and 5 days of culture,the cytosol was further enlarged,and most of the neurons were in the form of synapses,and some neurons were growing in clusters.On day 7,neuronal synapses were prolonged and thickened,and they were connected with each other to form a network.The neurons were identified by β-Tubulin and MAP2 immunofluorescence staining.(2)The cells grew close to the wall on day 1 of culture.On days 3,5,and 7,the density of microglial cells was small,and the cell morphology was bright oval or round,but the cells basically grew in clumps on the upper layer of other cells.On day 10,the density of microglial cells increased significantly.On day 14,microglial cells grew in dense clumps on the upper layer of other cells,and then they could be isolated and purified.The isolated and purified cells were taken and re-cultured to day 3 and identified as microglial cells by Iba1 immunofluorescence;their purity was greater than 95%.(3)The results show that primary cortical neurons and microglial cells obtained by this method after extraction and culture are of high purity,good morphology,and high viability.

Extramedullary plasmacytoma(EMP)is a malignant neoplasm characterized by monoclonal plasma cell proliferation originating outside the bone marrow and hematopoietic tissues.The co-occurrence of multiple myeloma(MM)with mammary EMP is clinically rare.This case report describes the diagnostic and therapeutic management of a middle-aged female patient with MM and mammary EMP,accompanied by a litera-ture review.The patient presented with persistent fever and was found to have a right breast mass via PET/CT during routine follow-up for MM.The lesion was biopsy-confirmed as mammary EMP,and the patient subse-quently underwent chemotherapy.This case highlights the critical importance of differential diagnosis between breast cancer and rare hematologic metastatic tumors in early prevention of disease progression.

Objective Pelvic fracture urethral distraction defect(PFUDD)is relatively rare among boys and difficult to manage.This study aims to explore the efficacy of progressive urethral anastomosis in the treatment of this disease.Methods A total of 34 male children with PFUDD who were admitted to our hospitals during Jan.2008 and Dec.2022 were collected.The therapeutic effects and the occurrence of postoperative complications were observed and analyzed.Results All cases were traumatic pelvic fractures,including fall injuries in 3 cases,traffic-related impact injuries in 21 cases,and pelvic crush injuries in 10 cases.Urethroplasty was performed at least 3 months after the initial trauma or after the failure of the last intervention.The mean length of the urethral defect was 3.0 cm,with a range of 1.5 to 5.5 cm.Three cases complicated with urethrorectal fistula underwent urethroplasty concomitant with fistula repair.All children were followed up for an average of 65.5 months,with a range of 5.0 to 155.0 months,with 32 cases(94.1％)achieving successful treatment.Two cases with stricture recurrence were cured by a second operation.Three cases with mild urinary incontinence were improved after half a year of pelvic floor muscle rehabilitation training.Conclusion The progressive urethral anastomosis strategy can yield a relatively high success rate.The trans-inferior-pubic resection or simpler approaches can be adopted for the treatment of PFUDD in over 90％of male children.

AIM:To investigate the impact of es-ketamine-mediated opioid-free anesthesia(OFA)on postoperative gastrointestinal function in patients undergoing laparoscopic distal gastrectomy for gas-tric cancer.METHODS:A total of 150 pa-tients,scheduled for elective laparoscopic distal gas-trectomy for gastric cancer and meeting the inclu-sion and exclusion criteria,were randomly assigned to either the OFA group or the opioid-based anes-thesia(OBA)group using a random number ta-ble,with 75 patients in each group.The OFA group was administered an anesthesia regimen pri-marily consisting of esketamine,while the OBA group received conventional opioid anesthesia,pri-marily consisting of sufentanil and remifentanil.The primary outcome measure was postoperative flatus time,defined as the interval from the end of sur-gery to the first passage of gas.RESULTS:The OFA group exhibited a shorter postoperative flatus time compared to the OBA group(P＜0.01).Intraopera-tive blood loss and norepinephrine consumption were significantly less in the OFA group compared to the OBA group(P＜0.05);the postoperative HADS-D score was better in the OFA group than in the OBA group,and both the OFA and OBA groups showed significantly lower postoperative HADS-A and HADS-D scores compared to their preoperative levels(P＜0.05);the incidence rate of abdominal distension was significantly lower in the OFA group compared to the OBA group(P＜0.05).CONCLUSION:The use of esketamine-mediated opioid-free anesthesia can expedite gastrointestinal function recovery,reduce hospital stay duration,and decrease postoperative adverse reactions in patients undergoing laparo-scopic distal gastrectomy for gastric cancer.

Objective To evaluate the feasibility and technical advantages of modified laparoscopic ileal-neobladder fistula repair.Methods A retrospective analysis was conducted on the clinical data of 4 patients who underwent radical cystectomy+orthotopic neobladder surgery and subsequently developed ileal-neobladder fistula and received modified repair surgery in our hospital during Jan.2019 and Dec.2023.Under laparoscopy,the ileum at both ends of the fistula was transected,and an end-to-end ileal anastomosis bypass was established.Results All 4 patients successfully completed the operation.Their age was 66,50,76 and 59 years,respectively.Ileal-neoblbladder fistula occurred 4,1,2 and 16 months after radical resection.The operation time was 129,98,105 and 90 minutes.The intraoperative blood loss was 50,60,70 and 50 mL.The postoperative exhaust time was 3,4,3 and 5 days.The postoperative hospital stay was 8,7,7 and 9 days,and the postoperative drainage tube indwelling time was 5,4,5 and 7 days.No obvious complications occurred after operation.During follow-up of 1 to 6 years,none recurrence or long-term stenosis of the intestinal anastomosis occurred.The symptoms of urinary tract infection improved significantly,and the bladder function remained stable.Conclusion The modified laparoscopic repair of ileal-neobladder fistula achieves minimally invasive repair by avoiding extensive adhesion separation.It has the advantages of safe operation,rapid recovery,and few complications,and is a safe option for the treatment of ileal-neobladder fistula.

AIM:To investigate the impact of es-ketamine-mediated opioid-free anesthesia(OFA)on postoperative gastrointestinal function in patients undergoing laparoscopic distal gastrectomy for gas-tric cancer.METHODS:A total of 150 pa-tients,scheduled for elective laparoscopic distal gas-trectomy for gastric cancer and meeting the inclu-sion and exclusion criteria,were randomly assigned to either the OFA group or the opioid-based anes-thesia(OBA)group using a random number ta-ble,with 75 patients in each group.The OFA group was administered an anesthesia regimen pri-marily consisting of esketamine,while the OBA group received conventional opioid anesthesia,pri-marily consisting of sufentanil and remifentanil.The primary outcome measure was postoperative flatus time,defined as the interval from the end of sur-gery to the first passage of gas.RESULTS:The OFA group exhibited a shorter postoperative flatus time compared to the OBA group(P＜0.01).Intraopera-tive blood loss and norepinephrine consumption were significantly less in the OFA group compared to the OBA group(P＜0.05);the postoperative HADS-D score was better in the OFA group than in the OBA group,and both the OFA and OBA groups showed significantly lower postoperative HADS-A and HADS-D scores compared to their preoperative levels(P＜0.05);the incidence rate of abdominal distension was significantly lower in the OFA group compared to the OBA group(P＜0.05).CONCLUSION:The use of esketamine-mediated opioid-free anesthesia can expedite gastrointestinal function recovery,reduce hospital stay duration,and decrease postoperative adverse reactions in patients undergoing laparo-scopic distal gastrectomy for gastric cancer.

Objective To evaluate the feasibility and technical advantages of modified laparoscopic ileal-neobladder fistula repair.Methods A retrospective analysis was conducted on the clinical data of 4 patients who underwent radical cystectomy+orthotopic neobladder surgery and subsequently developed ileal-neobladder fistula and received modified repair surgery in our hospital during Jan.2019 and Dec.2023.Under laparoscopy,the ileum at both ends of the fistula was transected,and an end-to-end ileal anastomosis bypass was established.Results All 4 patients successfully completed the operation.Their age was 66,50,76 and 59 years,respectively.Ileal-neoblbladder fistula occurred 4,1,2 and 16 months after radical resection.The operation time was 129,98,105 and 90 minutes.The intraoperative blood loss was 50,60,70 and 50 mL.The postoperative exhaust time was 3,4,3 and 5 days.The postoperative hospital stay was 8,7,7 and 9 days,and the postoperative drainage tube indwelling time was 5,4,5 and 7 days.No obvious complications occurred after operation.During follow-up of 1 to 6 years,none recurrence or long-term stenosis of the intestinal anastomosis occurred.The symptoms of urinary tract infection improved significantly,and the bladder function remained stable.Conclusion The modified laparoscopic repair of ileal-neobladder fistula achieves minimally invasive repair by avoiding extensive adhesion separation.It has the advantages of safe operation,rapid recovery,and few complications,and is a safe option for the treatment of ileal-neobladder fistula.

Extramedullary plasmacytoma(EMP)is a malignant neoplasm characterized by monoclonal plasma cell proliferation originating outside the bone marrow and hematopoietic tissues.The co-occurrence of multiple myeloma(MM)with mammary EMP is clinically rare.This case report describes the diagnostic and therapeutic management of a middle-aged female patient with MM and mammary EMP,accompanied by a litera-ture review.The patient presented with persistent fever and was found to have a right breast mass via PET/CT during routine follow-up for MM.The lesion was biopsy-confirmed as mammary EMP,and the patient subse-quently underwent chemotherapy.This case highlights the critical importance of differential diagnosis between breast cancer and rare hematologic metastatic tumors in early prevention of disease progression.