1.Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I.
Bingjie HU ; Xianhong DING ; Yang LU ; Hongliang CHEN ; Shuaishuai CHEN ; Mengyi XU ; Yicheng FANG ; Bo SHEN
Chinese Journal of Medical Genetics 2026;43(1):19-30
OBJECTIVE:
To explore the genetic variants and phenotypic characteristics of patients with Neurofibromatosis type I (NF1).
METHODS:
Twenty two NF1 patients who presented at Enze Medical (Center) Group in Taizhou between 2018 and 2024 were selected as the study subjects. Clinical phenotype and family history were collected for the patients. Whole exome sequencing (WES) was carried out for the 22 probands to screen the variants of NF1 gene. Candidate variants were verified by Sanger sequencing of their family members. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: K20230902).
RESULTS:
The 22 probands were diagnosed between the age of 5 months to 47 years old, and have all shown cafe au lait spots on their skin. Seventeen patients exhibited the phenotype at birth, and 11 had various degrees of neurofibromatosis. Among them, probands 1 and 13 underwent surgical resection of the tumor but had recurred, while proband 12 had amputation due to the huge size and serious impact of the neurofibroma and had no recurrence. Five patients had various degrees of scoliosis. In total 22 germline mutations and one somatic mutation were identified among the 22 families, with 5 variants unreported previously, including 1 nonsense mutation c.1603C>T (Q535*), 3 frameshift mutations [c.7268_7269delCA (Thr2423fs), c.2293del (Arg765Alafs*26), and c.5433_5438delinsGC (Phe1812ArgfsTer50)], and 1 deletion involving exons 41-44 of the NF1 gene and adjacent introns. Proband 13 was found to harbor germline mutation c.6796C>T (Gln2266Ter) and somatic mutation c.1019_1020del (Ser340Cysfs Ter12) in the peripheral blood and tumor tissue, respectively. Among the 22 NF1 probands, 6 had received treatment due to severe illness. Proband 1 had tumor resection in the right upper limb, but was found to have malignant lung tumor and died during follow-up. Proband 12 had multiple recurrence of neurofibroma in the left ring finger. Proband 4 underwent spinal correction surgery due to severe scoliosis. Proband 11 had died due to a central nervous system disease. Among the 22 germline mutations, 6 had led to the occurrence of truncated proteins, which may have a more severe impact on the phenotype.
CONCLUSION
This study investigated the genetic variants and clinical phenotypes of 22 NF1 families and identified 5 novel variants of the NF1 gene, which has expanded the genotypic and phenotypic spectra of the NF1. Preliminary studies have identified an association between truncated mutations, young age, and severe phenotypes, which may provide important clues for prognosis evaluation. For the clinical diagnosis and treatment of NF1, it is necessary to consider the phenotypic characteristics and genetic testing in combination with genetic counseling and long-term follow-up.
Humans
;
Neurofibromatosis 1/pathology*
;
Male
;
Female
;
Pedigree
;
Adult
;
Child
;
Child, Preschool
;
Middle Aged
;
Adolescent
;
Infant
;
Young Adult
;
Neurofibromin 1/genetics*
;
Phenotype
;
Asian People/genetics*
;
Mutation
;
Exome Sequencing
;
East Asian People
2.Association of microRNA gene polymorphisms with risk, clinicopathological characteristics and therapeutical efficacy among Chinese patients with Crohn's disease.
Yanlun ZHANG ; Xiaoxiao SHAO ; Daopo LIN ; Yuan XU ; Guolong MA ; Yi JIANG
Chinese Journal of Medical Genetics 2026;43(2):111-122
OBJECTIVE:
To assess the association of microribonucleic acid (miRNA) gene polymorphisms with the risk and clinicopathological characteristics of Crohn's disease (CD) and the influence of miRNA gene variants on the response to ustekinumab (UST) treatment among CD patients.
METHODS:
From January 2018 to February 2025, 312 patients diagnosed with CD and 527 gender- and age-matched normal controls were selected as the study subjects at the Department of Gastroenterology of the Second Affiliated Hospital of Wenzhou Medical University. Genotypes of miR-155 (rs767649), miR-21 (rs13137), miR-124 (rs531564) and miR-146a (rs57095329, rs2431697) were determined with multiplex polymerase chain reaction-ligase detection reaction (PCR-LDR) technique. The patients were divided into different subgroups according to the Montreal Classification Criteria for CD. Harvey-Bradshaw index (HBI) and simplified endoscopic score for CD were respectively applied to assess the clinical and endoscopic disease activity of CD. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between the two groups, as well as their influence on the clinicopathological characteristics of CD patients. Among them, 185 CD patients received first-line UST treatment, with the first sufficient dose of UST (6 mg/kg) administered intravenously. Based on the changes in HBI at week 8, the response of patients to UST treatment was evaluated. Unconditional logistic regression model was employed to analyze the distribution of miRNA gene polymorphisms between clinically responsive group (the decline of HBI ≥ 3 scores compared to week 0) and non-responsive group. All of the P values were adjusted by Bonferroni correction. This study has been approved by the Medical Ethics Committee of the Second Affiliated Hospital of Wenzhou Medical University (Ethics No.: 2025-K-12-01).
RESULTS:
No significant difference was found in the distribution of miRNA gene polymorphisms between the two groups (all P > 0.05). The variant genotype (TC+CC) of rs2431697 was more common among patients with terminal ileal-type and ileocolic-type CD than those with the colonic-type CD (OR = 4.98, 95%CI: 1.49~16.68, P = 0.009, adjusted P = 0.045). However, the opposite conclusion was drawn for the homozygous variant genotype (TT) of rs13137 and variant genotype (GC+CC) of rs531564 (OR = 0.37, 95%CI: 0.18~0.76, P = 0.007, adjusted P = 0.035; OR = 0.36, 95%CI: 0.18~0.73, P = 0.004, adjusted P = 0.020). Compared to patients with non-stricturing and penetrating CD, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common in those with stricturing and penetrating CD (OR = 4.06, 95%CI: 2.46~6.71, P < 0.001, adjusted P < 0.005; OR = 3.12, 95%CI: 2.06~4.73, P < 0.001, adjusted P < 0.005). However, the frequencies of variant genotype (AT+TT) and variant allele (T) of rs13137 were lower among patients with stricturing and penetrating CD than in those without (OR = 0.25, 95%CI: 0.15~0.41, P < 0.001, adjusted P < 0.005; OR = 0.45, 95%CI: 0.33~0.63, P < 0.001, adjusted P < 0.005). Additionally, the variant genotype (AG+GG) and variant allele (G) of rs57095329 were more common among those with moderately to severely endoscopic activity than those with mildly endoscopic activity (OR = 2.01, 95%CI: 1.19~3.42, P = 0.009, adjusted P = 0.045; OR = 2.04, 95%CI: 1.28~3.25, P = 0.003, adjusted P = 0.015). In total 117 cases had shown clinical response by week 8, while 68 cases showed no response. Compared with t he clinically non-responsive group, the variant genotype (TC+CC) and variant allele (C) of rs2431697 were more common in the clinically responsive group (OR = 3.86, 95%CI: 1.80~8.32, P = 0.001, adjusted P = 0.005; OR = 2.60, 95%CI: 1.34~5.06, P = 0.005, adjusted P = 0.025). However, the variant genotype (TA+AA) of rs767649 was less frequent in the clinically responsive group than the non-responsive group (OR = 0.40, 95%CI: 0.21~0.74, P = 0.004, adjusted P = 0.020). The same conclusion was drawn for the variant genotype (AT+TT) and variant allele (T) of rs13137 when the clinically responsive group was compared with the non-responsive group (OR = 0.30, 95%CI: 0.14~0.63, P = 0.002, adjusted P = 0.010; OR = 0.54, 95%CI: 0.35~0.82, P = 0.005, adjusted P = 0.025).
CONCLUSION
Genetic polymorphisms of miRNAs are not associated with the risk of developing CD. The miR-146a (rs57095329) variant may increase the endoscopic activity of CD and the risk for stenosis or penetration. However, the miR-146a (rs2431697) variant may increase the risk of ileal involvement. The miR-21 (rs13137) variant may reduce the risk of ileal involvement and the risk of stenosis or penetration. The miR-124 (rs531564) variant may reduce the risk of ileal involvement. Among patients receiving UST treatment, the miR-146a (rs2431697) variant may increase the clinical response by week 8. However, both the miR-155 (rs767649) and miR-21 (rs13137) variants may decrease the clinical response by week 8.
Humans
;
MicroRNAs/genetics*
;
Crohn Disease/pathology*
;
Male
;
Female
;
Adult
;
Polymorphism, Single Nucleotide
;
Middle Aged
;
Asian People/genetics*
;
Genetic Predisposition to Disease
;
Genotype
;
Young Adult
;
Case-Control Studies
;
Adolescent
;
East Asian People
3.Illness duration-related developmental trajectory of progressive cerebral gray matter changes in schizophrenia.
Xin CHANG ; Zhihuan YANG ; Yingjie TANG ; Xiaoying SUN ; Cheng LUO ; Dezhong YAO
Journal of Biomedical Engineering 2025;42(2):293-299
In different stages of schizophrenia (SZ), alterations in gray matter volume (GMV) of patients are normally regulated by various pathological mechanisms. Instead of analyzing stage-specific changes, this study employed a multivariate structural covariance model and sliding-window approach to investigate the illness duration-related developmental trajectory of GMV in SZ. The trajectory is defined as a sequence of brain regions activated by illness duration, represented as a sparsely directed matrix. By applying this approach to structural magnetic resonance imaging data from 145 patients with SZ, we observed a continuous developmental trajectory of GMV from cortical to subcortical regions, with an average change occurring every 0.208 years, covering a time window of 20.176 years. The starting points were widely distributed across all networks, except for the ventral attention network. These findings provide insights into the neuropathological mechanism of SZ with a neuroprogressive model and facilitate the development of process for aided diagnosis and intervention with the starting points.
Humans
;
Schizophrenia/pathology*
;
Gray Matter/pathology*
;
Magnetic Resonance Imaging
;
Disease Progression
;
Male
;
Female
;
Brain/pathology*
;
Cerebral Cortex/pathology*
;
Adult
4.Study on the electric field transmission characteristics of conducted-electrode tumor treating fields.
Kaida LIU ; Junxia ZHANG ; Jiaqi SHI ; Haohan FANG ; Xing LI
Journal of Biomedical Engineering 2025;42(5):964-969
Tumor treating fields (TTF) therapy is an innovative tumor treatment modality. Currently, the TTF devices predominantly employ insulated ceramic electrodes as the electric field transmission medium, resulting in low energy transfer efficiency of the electric field and poor portability of the devices. This study proposed an innovative TTF transmission mode and independently designed a conducted-electrode TTF cell culture dish utilizing inert titanium materials. The electric field conduction characteristics were verified through finite element simulations and experimental tests. Finally, based on the self-manufactured conducted-electrode TTF cell culture dish, experiments on the proliferation inhibition of U87 tumor cells by TTF were conducted. The results demonstrated that under an applied TTF voltage of 10 V and frequency of 200 kHz, the electric field intensities within the medium for conducted and insulated electrodes are approximately 2.5 V/cm and 0.7 V/cm, respectively. Compared to conventional insulated TTF systems, the conducted-electrode TTF configuration exhibited a lower electrode voltage drop and a higher electric field intensity in the culture medium, indicating superior electric field transmission efficiency. Following 36 hours of treatment with conducted-electrode TTF on U87 cells, the proliferation inhibition rate reached approximately 50%, demonstrating effective suppression of tumor cell growth. This approach presents a potential direction for optimizing TTF treatment modality and device design.
Humans
;
Electrodes
;
Neoplasms/pathology*
;
Cell Line, Tumor
;
Cell Proliferation/radiation effects*
;
Electric Stimulation Therapy/methods*
;
Electromagnetic Fields
5.Artificial intelligence in predicting pathological complete response to neoadjuvant chemotherapy for breast cancer: current advances and challenges.
Sunwei HE ; Xiujuan LI ; Yuanzhong XIE ; Jixue HOU ; Baosan HAN ; Shengdong NIE
Journal of Biomedical Engineering 2025;42(5):1076-1084
With the rising incidence of breast cancer among women, neoadjuvant chemotherapy (NAC) is becoming increasingly crucial as a preoperative treatment modality, enabling tumor downstaging and volume reduction. However, its efficacy varies significantly among patients, underscoring the importance of predicting pathological complete response (pCR) following NAC. Early research relied on statistical methods to integrate clinical data for predicting treatment outcomes. With the advent of artificial intelligence (AI), traditional machine learning approaches were subsequently employed for efficacy prediction. Deep learning emerged to dominate this field, and demonstrated the capability to automatically extract imaging features and integrate multimodal data for pCR prediction. This review comprehensively examined the applications and limitations of these three methodologies in predicting breast cancer pCR. Future efforts must prioritize the development of superior predictive models to achieve precise predictions, integrate them into clinical workflows, enhance patient care, and ultimately improve therapeutic outcomes and quality of life.
Humans
;
Breast Neoplasms/pathology*
;
Neoadjuvant Therapy
;
Artificial Intelligence
;
Female
;
Machine Learning
;
Deep Learning
;
Chemotherapy, Adjuvant
;
Treatment Outcome
6.Relationship between knee meniscus and posterior tibial slope in healthy adults and patients with anteromedial osteoarthritis in Heilongjiang province.
Shuxin GUO ; Shikun GUAN ; Rui HUAN ; Ning LIU
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(1):32-39
OBJECTIVE:
To measure and analyze the relationships among the posterior tibial slope (PTS), meniscal slope (MS), and meniscus posterior horn thickness (MPHT) of the medial and lateral tibial plateau in healthy people and patients with anteromedial osteoarthritis (AMOA) in Heilongjiang province, so as to provide reference basis for appropriate tibial osteotomy and prosthesis placement angles in knee joint surgeries.
METHODS:
A retrospective collection of imaging data from knee joint MRI examinations conducted prior to AMOA for various reasons was performed. A total of 103 healthy individuals (healthy group) and 30 AMOA patients (AMOA group) were included. There was no significant difference in the gender composition ratio, side, and body mass index between the two groups ( P>0.05); however, the comparison of ages between the two groups showed a significant difference ( P<0.05). The collected DICOM format image data was imported into the RadiAnt DICOM Viewer software and measured the medial PTS (MPTS), lateral PTS (LPTS), medial MS (MMS), lateral MS (LMS), medial MPHT (MMPHT), and lateral MPHT (LMPHT) with standard methods. The differences of the above indexes between the two groups and between different genders and sides in the two groups were compared, and Pearson correlation analysis was carried out. At the same time, the measured data of healthy group were compared with the relevant literature reported in the past.
RESULTS:
Compared to the healthy group, the AMOA group exhibited significantly smaller MPTS and LPTS, as well as significantly greater MMPHT and LMPHT, with significant differences ( P<0.05). However, there was no significant difference in the MMS and LMS between the two groups ( P>0.05). The differences in various indicators between genders and sides within the two groups were not significant ( P>0.05). The correlation analysis and regression curves indicated that both MPTS and LPTS in the two groups were positively correlated with their respective ipsilateral MS and MPHT ( P<0.05); as PTS increased, the rate of increase in MS and MPHT tend to plateau. Compared to previous related studies, the MPTS and LPTS measured in healthy group were comparable to those of the Turkish population, exhibiting smaller values than those reported in other studies, while MMS and LMS were relatively larger, and MMPHT and LMPHT were smaller.
CONCLUSION
In healthy people and AMOA patients in Heilongjiang province, PTS has great individual differences, but there is no significant individual difference in MS. MPHT can play a certain role in retroversion compensation, and its thickness increase may be used as one of the indicators to predict the progression of AMOA. The above factors should be taken into account when UKA is performed, and the posterior tilt angle of tibial osteotomy should be set reasonably after preoperative examination and evaluation.
Humans
;
Osteoarthritis, Knee/surgery*
;
Retrospective Studies
;
Tibia/pathology*
;
Male
;
Female
;
Adult
;
Menisci, Tibial/anatomy & histology*
;
China
;
Knee Joint/pathology*
;
Magnetic Resonance Imaging
;
Middle Aged
;
Aged
;
Osteotomy
7.Comparative study on changes in forefoot width after minimally invasive extra-articular osteotomy via small incision for hallux valgus.
Yang ZHANG ; Yanrong YUAN ; Dehai KONG ; Ying LIU ; Guangchao SUN
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(2):140-145
OBJECTIVE:
To compare the difference in forefoot width between minimally invasive extra-articular osteotomy via small incision and traditional Chevron osteotomy in the treatment of hallux valgus.
METHODS:
A retrospective analysis was conducted on the clinical data of 45 patients with hallux valgus between April 2019 and July 2022. Among them, 22 cases underwent minimally invasive extra-articular osteotomy via small incision (minimally invasive group), and 23 cases underwent traditional Chevron osteotomy (traditional group). There was no significant difference in the baseline data between the two groups ( P>0.05), including gender, age, affected side, Mann classification of hallux valgus, disease duration, and preoperative intermetatarsal angle (IMA), hallux valgus angle (HVA), distal metatarsal articular angle (DMAA), bony forefoot width, soft tissue forefoot width, osteophyte width, and American Orthopaedic Foot and Ankle Society (AOFAS) score. The osteotomy healing time and the occurrence of complications in the two groups were recorded. The differences between pre- and post-operation (changes) in various imaging indicators and AOFAS scores in the two groups were calculated. And the bony forefoot width and soft tissue forefoot width at 1, 6, and 12 months after operation were also recorded and compared between the two groups.
RESULTS:
One case of skin injury occurred during operation in the minimally invasive group, while 3 cases of poor wound healing occurred after operation in the traditional group. None of the patients experienced infections, nerve injuries, or other complications. All patients were followed up 12-31 months (mean, 22.5 months). The osteotomy healed in the two groups and no significant difference in healing time between the two groups was found ( P>0.05). The IMA, HVA, DMAA, osteophyte width, and AOFAS score at 12 months after operation significantly improved compared to those before operation ( P<0.05). There was no significant difference between the two groups in the changes of IMA, HVA, and osteophyte width ( P>0.05). However, the differences in the changes of AOFAS score and DMAA were significant ( P<0.05). There was no significant difference between the two groups in bony and soft tissue forefoot widths at different time points after operation ( P>0.05). However, there were significant differences in the two groups between the pre- and post-operation ( P<0.05).
CONCLUSION
The minimally invasive extra-articular osteotomy via small incision for hallux valgus, despite not removing the medial osteophyte of the first metatarsal, can still effectively improve the forefoot width and osteophyte width. While correcting the IMA and HVA, it can more effectively restore the DMAA, resulting in better AOFAS scores.
Humans
;
Hallux Valgus/surgery*
;
Osteotomy/methods*
;
Male
;
Female
;
Minimally Invasive Surgical Procedures/methods*
;
Retrospective Studies
;
Middle Aged
;
Forefoot, Human/pathology*
;
Adult
;
Treatment Outcome
;
Aged
8.Correlation analysis of anterior tibiotalar fat pad classification and anterior talofibular ligament injury based on MRI.
Lei ZHANG ; Junqiu WANG ; Wen LI ; Yu XIA
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(3):271-277
OBJECTIVE:
To investigate the correlation between the anterior talofibular ligament (ATFL) injury and the pathological changes of the anterior tibiotalar fat pad (ATFP) based on MRI.
METHODS:
The clinical and imaging data of 217 patients with ankle sprain who met the selection criteria between January 2019 and March 2024 were retrospectively analyzed. There were 113 males and 104 females with an average age of 38.2 years ranging from 18 to 60 years. Patients were divided into mild group ( n=106), moderate group ( n=63), and severe group ( n=48) according to the degree of ATFL injury. There was no significant difference in gender, side, and body mass index among the 3 groups ( P>0.05). The age of the mild group was significantly older than that of the moderate and severe groups ( P<0.05). The imaging parameters including the longest and shortest sagittal axis, the largest thickness, the longest and shortest transverse axis, the ATFP area, the area of ATFP high-signal region, and the anterior distal tibial angle (ADTA) were measured according to the MRI and X-ray films of patients. According to the morphology of ATFP, the patients were divided into type Ⅰ ( n=128), type Ⅱ ( n=73), and type Ⅲ ( n=16) based on the severity of the lesions. The distribution of ATFP types, ATFP area, area of ATFP high-signal region, and the ratio of area of ATFP high-signal region to ATFP area at the same level were statistically analyzed and compared among different ATFL injury groups. Additionally, radiographic parameters were compared across different ATFP types. Spearman rank correlation analysis was used to assess the relationships between ATFP area, area of ATFP high-signal region, and the ratio of area of ATFP high-signal region to ATFP area at the same level with patient baseline data. Through analysis of the area under curve (AUC) of ROC, optimal variables were selected for quantification to predict ATFL injury.
RESULTS:
There were significant differences in ATFP types among different ATFL injury groups ( P<0.05). The mild group had a higher proportion of type Ⅰ, the moderate group had a higher proportion of type Ⅱ, and the severe group had higher proportions of both typeⅡ and type Ⅲ. No significant difference was found in ATFP area among the different ATFL injury groups ( P>0.05). However, the area of ATFP high-signal region and the ratio of area of ATFP high-signal region to ATFP area at the same level were significantly lower in the mild group compared to the moderate and severe groups ( P<0.05). Except for the longest sagittal axis, maximum thickness, and longest transverse axis, which were significantly smaller in ATFP types Ⅱ and Ⅲ compared to type Ⅰ ( P<0.05), there was no significant difference in the remaining radiographic parameters among the different ATFP types ( P>0.05). Spearman rank correlation analysis revealed that ATFP area was negatively correlated with patient gender ( P<0.05), while area of ATFP high-signal region and the ratio of area of ATFP high-signal region to ATFP area at the same level were negatively correlated with patient age ( P<0.05). Through analysis of the AUC for the response variable ATFP injury, the combined diagnostic AUC of ROC for the reciprocal of the maximum thickness and the reciprocal of the area of ATFP high-signal region was 0.839 (asymptotic P<0.001). The corresponding cutoff value when the Youden index reached its maximum was 0.570 3.
CONCLUSION
As the severity of ATFL injury increases, the ATFP undergoes gradual morphological and functional changes. Classification based on ATFP types can assist in assessing the level of ATFL injury, thereby aiding in the prevention of post-traumatic osteoarthritis.
Humans
;
Male
;
Female
;
Adult
;
Magnetic Resonance Imaging/methods*
;
Middle Aged
;
Retrospective Studies
;
Adipose Tissue/pathology*
;
Adolescent
;
Young Adult
;
Lateral Ligament, Ankle/diagnostic imaging*
;
Ankle Injuries/pathology*
9.Short-term effectiveness of floating island laminectomy surgery for thoracic spinal stenosis and myelopathy caused by ossification of ligamentum flavum.
Cheng ZHONG ; Peng XIU ; Hua CHEN ; Tao LI
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(4):466-469
OBJECTIVE:
To explore short-term effectiveness of floating island laminectomy surgery in treating thoracic spinal stenosis and myelopathy caused by ossification of the ligamentum flavum.
METHODS:
A total of 31 patients with thoracic spinal stenosis and myelopathy caused by ossification of the ligamentum flavum between January 2019 and April 2022 were managed with floating island laminectomy surgery. The patients comprised 17 males and 14 females, aged between 36 and 78 years, with an average of 55.9 years. The duration of symptoms of spinal cord compression ranged from 3 to 62 months (mean, 27.2 months). The lesions affected T 1-6 in 4 cases and T 7-12 in 27 cases. The preoperative neurological function score from the modified Japanese Orthopaedic Association (mJOA) was 4.7±0.6. Surgical duration, intraoperative blood loss, and complications were recorded. The thoracic MRI was conducted to reassess the degree of spinal cord compression and decompression after operation. The mJOA score was employed to evaluate the neurological function and calculate the recovery rate at 12 months after operation.
RESULTS:
The surgical duration ranged from 122 to 325 minutes, with an average of 204.5 minutes. The intraoperative blood loss ranged from 150 to 800 mL (mean, 404.8 mL). All incisions healed by first intention after operation. All patients were followed up 12-14 months, with an average of 12.5 months. The patients' symptoms, including lower limb weakness, gait disorders, and pain, significantly improved. The mJOA scores after operation significantly increased when compared with preoperative scores ( P<0.05), gradually improving with time, with significant differences observed among 1, 3, and 6 months ( P<0.05). The recovery rate at 12 months was 69.76%±11.38%, with 10 cases exhibiting excellent neurological function and 21 cases showing good. During the procedure, there were 3 cases of dural tear and 1 case of dural defect. Postoperatively, there were 2 cases of cerebrospinal fluid leakage. No aggravated nerve damage, recurrence of ligamentum flavum ossification, or postoperative thoracic deformity occurred.
CONCLUSION
The floating island laminectomy surgery is safe for treating thoracic spinal stenosis and myelopathy caused by ossification of the ligamentum flavum, effectively preventing the exacerbation of neurological symptoms. Early improvement and recovery of neurological function are achieved.
Humans
;
Male
;
Spinal Stenosis/diagnostic imaging*
;
Female
;
Laminectomy/methods*
;
Ligamentum Flavum/pathology*
;
Middle Aged
;
Aged
;
Thoracic Vertebrae/surgery*
;
Adult
;
Decompression, Surgical/methods*
;
Treatment Outcome
;
Ossification, Heterotopic/surgery*
;
Spinal Cord Compression/etiology*
;
Spinal Cord Diseases/etiology*
;
Magnetic Resonance Imaging
10.Clinical application of modified edge resection technique for composite labia minora and clitoral hood reduction with preserved microstructures.
Kun YANG ; Yuren DUAN ; Qiang LI
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(4):478-482
OBJECTIVE:
To investigate effectiveness of the modified edge resection technique for composite labia minora and clitoral hood reduction with preserved microstructures.
METHODS:
A retrospective analysis was conducted on 36 female patients, who were diagnosed with composite hypertrophy of the labia minora and clitoral hood and admitted between September 2022 and December 2024. The patients' ages ranged from 18 to 45 years (mean, 27.4 years). The primary surgical motivations included poor appearance alone (8 cases), functional impairment alone (14 cases), both poor appearance and functional impairment (12 cases), and psychological factors (2 cases). All patients were treated with the modified edge resection technique for composite labiaminora and clitoral hood reduction with preserved microstructures. The surgical technique emphasized precise adjustments to the clitoral-labial junction and optimization of the anterior labial structure to ensure a natural postoperative appearance and functional integrity. Postoperative follow-up assessed improvements in appearance and function of clitoral hood and labia minora, complications, and overall patient satisfaction.
RESULTS:
One patient exhibited suboptimal wound healing, while the remaining patients experienced no complications such as postoperative bleeding, hematoma, wound dehiscence, suture cutting, or labial edema and enlargement. Thirty patients were followed up with a duration of 1-6 months (mean, 2.4 months). In the early postoperative period, 2 patients perceived asymmetry of the bilateral labia minora; 1 underwent labial revision surgery, while the other achieved near-symmetry without intervention. At last follow-up, 25 patients experienced varying degrees of relief from preoperative functional impairments, while the remaining patients showed no improvement; 27 patients reported varying degrees of improvement in appearance, 2 reported no change, and 1 reported a worse appearance compared to preoperatively. Sixteen patients were very satisfied with the surgical results, 8 were satisfied, 5 were moderate satisfied, and 1 was dissatisfied, with a satisfaction rate of 80% (24/30).
CONCLUSION
The modified edge resection technique for composite labia minora and clitoral hood reduction with preserved microstructures which preserves and optimizes fine anatomical structures through precise adjustments at the clitoral-labial junction, achieves high patient satisfaction with both aesthetic and functional outcomes while minimizing postoperative complications.
Humans
;
Female
;
Adult
;
Retrospective Studies
;
Vulva/pathology*
;
Clitoris/pathology*
;
Middle Aged
;
Plastic Surgery Procedures/methods*
;
Adolescent
;
Patient Satisfaction
;
Young Adult
;
Treatment Outcome
;
Hypertrophy/surgery*

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