OBJECTIVE: To investigate the clinical outcome of sensory reconstruction about the functional perforator flap for repairing the complex defects on the limbs. METHODS: A retrospective analysis was conducted on 21 patients with limb complex defects admitted between March 2018 and January 2023. There were 12 males and 9 females, with a median age of 36 years (range, 19-62 years). The wounds were on the upper limbs (hands) in 13 cases and the lower limbs (feet) in 8 cases. Five patients with tumor/scar, and the left defects after en-bloc resection of the tumor lesion and scar were repaired immediately. The remaining 16 cases were acute/chronic wounds, undergoing the emergent debridement and vacuum sealing drainage placement, and the left defects were repaired with flaps during second-stage operation. The size of the defects ranged from 5.5 cm×4.5 cm to 17.0 cm×12.0 cm. The donor sites were located on the thoracic and back in 4 cases, the anterior lateral thigh in 6 cases, and the feet in 11 cases. All flaps were functional perforator flaps with sensory nerve. The donor sites were closed directly or repaired with skin grafting. At last follow-up, the sensation of flap and the muscle strength of recipient site were evaluated according to the British Medical Research Council (BMRC) sensory grading (S₀-S₄) and muscle strength grading (M₀-M₅) criteria. RESULTS: Twenty flaps survived completely without significant complication, and partial edge necrosis was observed in 1 flap, which healed after the debridement and skin grafting. The donor and recipient sites healed by first intention. All patients were followed up 10-18 months (mean, 12 months). At last follow-up, the flaps with satisfactory shape and soft texture were observed, and no abnormal hair growth or pigmentation occurred. The sensation of flap was evaluated as S₁ in 2 cases, S₂ in 7, S₃ in 9, and S₄ in 3. The muscle strength of recipient site was evaluated as M₂ in 4 cases, M₃ in 9, M₄ in 5, and M₅ in 3. Only linear scars were left at the donor site. CONCLUSION The functional perforator flap with sensory nerve is beneficial for early sensation reconstruction for repairing the complex defects on the limbs, and could reconstruct the functional subunit structure defect in one stage. The short-term functional follow-up results are satisfactory.
Humans ; Male ; Adult ; Female ; Perforator Flap/transplantation* ; Middle Aged ; Plastic Surgery Procedures/methods* ; Retrospective Studies ; Young Adult ; Treatment Outcome ; Extremities/injuries* ; Cicatrix/surgery* ; Skin Transplantation/methods*

OBJECTIVE: To elucidate the clinical and genetic characteristics of familial cases with Glucose transporter type 1 deficiency syndrome (Glut1DS). METHODS: A survey of family history was conducted on children (proband) with Glut1DS who had visited Peking University First Hospital between November 2008 and April 2024 by focusing on the clinical manifestations of family members. Peripheral venous blood (2 mL) was collected from the pediatric patients and their parents. Genomic DNA was extracted and sequenced subsequently. Sanger sequencing was performed to validate the identified variant sites of the SLC2A1 gene in the probands and their family members. The pathogenicity of suspected variants was analyzed according to the 2015 American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants. The clinical features, auxiliary examinations, and mutational characteristics of family members with SLC2A1 variants were analyzed. This study has been approved by the Clinical Research Ethics Committee of Peking University First Hospital (Ethics No. 2021 Research 332). RESULTS: Among 87 cases with Glut1DS, 10 families with autosomal dominate inherited cases were identified, accounting for 11.0% of the cases. Of the 11 children, 8 were boys and 3 were girls. The onset of the disease had ranged from 3 months to 120 months (median 6 months), with 4 cases of early-onset classic type, 2 cases of late-onset classic type, and 5 cases of non-classic type. Six children had seizures, and 7 exhibited movement disorders. Seven children underwent developmental assessment, of which 3 had mild developmental delay, 2 were borderline, and 2 were normal. Nine children underwent lumbar puncture. The cerebrospinal fluid glucose levels ranged from 1.45 to 2.25 mmol/L (median 1.86 mmol/L), and the cerebrospinal fluid to blood glucose ratios ranged from 0.29 to 0.44 (median 0.35). Among the 8 fathers with SLC2A1 gene variants, 4 were asymptomatic, 2 developed paroxysmal exercise-induced movement disorders (PED) in childhood and adulthood, respectively. 1 had poor memory since childhood, 1 developed migraines during adolescence, and his sister was an asymptomatic carrier. The father with childhood-onset PED had a cerebrospinal fluid test with CSF glucose of 1.85 mmol/L. Of the 3 mothers with SLC2A1 gene mutations, 1 was an asymptomatic carrier; 2 developed PED in childhood and after the age of 20, respectively. The mother who developed PED in childhood also had psychomotor developmental delay. Genetic testing results revealed that among 10 families, 8 carried missense variants, 1 carried a nonsense variant, and 1 carried a small fragment insertion leading to a frameshift variant. Among the 11 cases, SLC2A1 gene variants in 8 children were inherited from their fathers, while in 3 cases, the variants were inherited from their mothers. The pathogenicity of the genetic variants was evaluated according to the Standards and Guidelines for the Interpretation of Sequence Variants published by the ACMG. Among the 8 variants identified in the 10 families, 4 were classified as pathogenic variants, 1 as likely pathogenic, and 3 as variants of uncertain significance (VUS). Four variant sites, including c.204_205insTCTC (p.V69fs), c.412G>C (p.G138R), c.431T>G (p.V144G), and c.875A>G (p.Y292C), were not previously reported in the literature. Among these, the latter three were categorized as VUS. CONCLUSION Familial Glut1DS account for 11.0% of the cases in China, with the majority of SLC2A1 gene variants inherited from the fathers, predominantly missense mutations, and with an autosomal dominant inheritance pattern. Probands tend to have earlier onset and more severe symptoms than their parents, who often present with mild or no symptoms.
Humans ; Male ; Female ; Glucose Transporter Type 1/deficiency* ; Monosaccharide Transport Proteins/deficiency* ; Child ; Child, Preschool ; Carbohydrate Metabolism, Inborn Errors/genetics* ; Mutation ; Infant ; Pedigree ; Adolescent ; Adult

Objective To explore the diagnostic value of energy spectrum CT quantitative parameters combined with serum thy-roid stimulating hormone receptor-messenger ribonucleic acid(TSHR-mRNA)for papillary thyroid microcarcinoma(PTMC).Methods A total of 105 patients with thyroid micronodules confirmed by surgery and pathology were collected,61 of whom were PTMC(PTMC group),and 44 patients with micronodular goiter(MNG)(MNG group).Energy spectrum CT quantitative parameters and serum TSHR-mRNA expression were compared between the two groups.The diagnostic value of energy spectrum CT quantitative parame-ters alone and combined with serum TSHR-mRNA for PTMC was analyzed by receiver operating characteristic(ROC)curve.Results The iodine concentration and slope of energy spectrum CT quantitative parameters between PTMC group and MNG group were signifi-cantly different in plain scan,arterial and venous phases(P＜0.05).The mean serum TSHR-mRNA expression in the PTMC group was higher than that in MNG group(P＜0.05).The area under the curve(AUC)for diagnosing PTMC using quantitative parame-ters of energy spectrum CT combined with serum TSHR-mRNA was 0.913,and the accuracy,sensitivity,and negative predictive value of diagnosing PTMC were significantly higher than those of quantitative parameters of energy spectrum CT or serum TSHR-mRNA(P＜0.05).Conclusion Both energy spectrum CT quantitative parameters and serum TSHR-mRNA can be used to diagnose PTMC alone,and the combination of both is more accurately.

Objective:To investigate the surgical strategy for giant neurofibromas in the trunk with the goal of precise treatment of superficial tumors.Methods:We retrospectively analyzed the patients with giant neurofibroma of the trunk who admitted to the Department of Plastic Surgery, Southwest Hospital of Army Medical University from January 2021 to March 2023. All patients were treated with "AISS" strategy: (1) autologous blood storage; (2) interventional embolization of the key blood supply artery of the tumor; (3) surgical resection of the tumor; (4) skin graft was harvested from the tumor to repair the secondary defect. Patient demographics, autologous blood storage volume, specific blood vessels and methods of interventional embolization, intraoperative blood loss, intraoperative blood transfusion, complications, and tumor recurrence at follow-ups were documented.Results:A total of 5 patients were enrolled, including 4 males and 1 female, aged 22-32 years. The tumors size ranged from 21 cm×20 cm to 76 cm×66 cm, which were located in the trunk (neck, chest, waist, sacrococcygeal region). The volume of autologous blood storage ranged from 800 to 1 600 ml before the operation. The main blood supply vessels of the tumor were embolized before the operation, including: internal thoracic artery, intercostal artery, external thoracic artery, lumbar artery, inferior epigastric artery, iliolumbar artery and internal iliac artery. All patients underwent radical resection. The intraoperative blood loss was 150-3 000 ml. Patients were transfused with their autologous blood during the operation. There were no severe intraoperative hemorrhage, adverse effects of blood transfusion or infection were not noted. A small skin graft necrosis was noticed in the bilateral iliac fossa in one patient, which was subsequently resolved through dressing change and blade-thickness skin graft transplantation. No tumor recurrence was found during the follow-up period (6-24 months).Conclusion:"AISS" strategy not only safely and accurately treat giant neurofibroma of trunk, but also effectively reduce the intraoperative blood loss and complications, repair of huge wounds in one stage, preventing the recurrence rate of tumors and improving patient satisfaction.

Objective:To explore the clinical effects of combined surgical and high-frequency electro-acupuncture treatment for aesthetic restoration in children with eyelid split nevus.Methods:A retrospective analysis was conducted on the medical records of children treated for eyelid split nevus in the Plastic Surgery Department of the First Affiliated Hospital of Army Medical University from January 2019 to December 2023. All cases underwent combined surgical excision and high-frequency electro-acupuncture vaporization. Surgical removal was used for nevi with significant pigmentation and deep involvement, and high-frequency electro-acupuncture was simultaneously applied to vaporize residual superficial pigmentation layer by layer based on the depth of the pigmentation. The wounds were repaired using either direct suturing or local flap transfer. Postoperative management included the application of growth factors and anti-scar treatments. Postoperative healing, adverse effects, and pigment clearance rate (categorized as healed, significant effect, improved, or ineffective) were observed by comparsons of the pre-treatment and the last follow-up photographs. Eyelid function, appearance, and scar hypertrophy were assessed during follow-up, and family satisfaction (categorized as very satisfied, satisfied, or dissatisfied) was surveyed via telephone.Results:Five children were included, with one male and four females aged between 2 and 10 years (average 7 years). Pigment areas ranged from 0.3 cm × 0.5 cm to 1.7 cm × 1.1 cm, with surgical excision areas from 0.3 cm × 0.4 cm to 1.5 cm × 1.1 cm. All children had good wound healing without complications such as infection, flap ischemic necrosis, wound dehiscence or bleeding. The pigment clearance rate was over 90%, achieving a healed effect. During the follow-up of 14 to 48 months (average 24.2 months), all patients had normal eyelid function without difficulties in opening or closing the eyes, or epiphora. The eyelid appearance was satisfactory without asymmetry, ptosis, ectropion or hypertrophic scars. The aesthetic outcomes and functionality of the eyelids were ideal, and satisfaction was generally rated as very satisfied.Conclusion:Surgical removal combined with high-frequency electro-acupuncture is beneficial for preserving aesthetic appearance while pigmentation in children with eyelid split nevus is removed, offering a new treatment option.

Objective:To investigate the surgical strategy for giant neurofibromas in the trunk with the goal of precise treatment of superficial tumors.Methods:We retrospectively analyzed the patients with giant neurofibroma of the trunk who admitted to the Department of Plastic Surgery, Southwest Hospital of Army Medical University from January 2021 to March 2023. All patients were treated with "AISS" strategy: (1) autologous blood storage; (2) interventional embolization of the key blood supply artery of the tumor; (3) surgical resection of the tumor; (4) skin graft was harvested from the tumor to repair the secondary defect. Patient demographics, autologous blood storage volume, specific blood vessels and methods of interventional embolization, intraoperative blood loss, intraoperative blood transfusion, complications, and tumor recurrence at follow-ups were documented.Results:A total of 5 patients were enrolled, including 4 males and 1 female, aged 22-32 years. The tumors size ranged from 21 cm×20 cm to 76 cm×66 cm, which were located in the trunk (neck, chest, waist, sacrococcygeal region). The volume of autologous blood storage ranged from 800 to 1 600 ml before the operation. The main blood supply vessels of the tumor were embolized before the operation, including: internal thoracic artery, intercostal artery, external thoracic artery, lumbar artery, inferior epigastric artery, iliolumbar artery and internal iliac artery. All patients underwent radical resection. The intraoperative blood loss was 150-3 000 ml. Patients were transfused with their autologous blood during the operation. There were no severe intraoperative hemorrhage, adverse effects of blood transfusion or infection were not noted. A small skin graft necrosis was noticed in the bilateral iliac fossa in one patient, which was subsequently resolved through dressing change and blade-thickness skin graft transplantation. No tumor recurrence was found during the follow-up period (6-24 months).Conclusion:"AISS" strategy not only safely and accurately treat giant neurofibroma of trunk, but also effectively reduce the intraoperative blood loss and complications, repair of huge wounds in one stage, preventing the recurrence rate of tumors and improving patient satisfaction.

Objective:To explore the clinical effects of combined surgical and high-frequency electro-acupuncture treatment for aesthetic restoration in children with eyelid split nevus.Methods:A retrospective analysis was conducted on the medical records of children treated for eyelid split nevus in the Plastic Surgery Department of the First Affiliated Hospital of Army Medical University from January 2019 to December 2023. All cases underwent combined surgical excision and high-frequency electro-acupuncture vaporization. Surgical removal was used for nevi with significant pigmentation and deep involvement, and high-frequency electro-acupuncture was simultaneously applied to vaporize residual superficial pigmentation layer by layer based on the depth of the pigmentation. The wounds were repaired using either direct suturing or local flap transfer. Postoperative management included the application of growth factors and anti-scar treatments. Postoperative healing, adverse effects, and pigment clearance rate (categorized as healed, significant effect, improved, or ineffective) were observed by comparsons of the pre-treatment and the last follow-up photographs. Eyelid function, appearance, and scar hypertrophy were assessed during follow-up, and family satisfaction (categorized as very satisfied, satisfied, or dissatisfied) was surveyed via telephone.Results:Five children were included, with one male and four females aged between 2 and 10 years (average 7 years). Pigment areas ranged from 0.3 cm × 0.5 cm to 1.7 cm × 1.1 cm, with surgical excision areas from 0.3 cm × 0.4 cm to 1.5 cm × 1.1 cm. All children had good wound healing without complications such as infection, flap ischemic necrosis, wound dehiscence or bleeding. The pigment clearance rate was over 90%, achieving a healed effect. During the follow-up of 14 to 48 months (average 24.2 months), all patients had normal eyelid function without difficulties in opening or closing the eyes, or epiphora. The eyelid appearance was satisfactory without asymmetry, ptosis, ectropion or hypertrophic scars. The aesthetic outcomes and functionality of the eyelids were ideal, and satisfaction was generally rated as very satisfied.Conclusion:Surgical removal combined with high-frequency electro-acupuncture is beneficial for preserving aesthetic appearance while pigmentation in children with eyelid split nevus is removed, offering a new treatment option.

Objective To observe the effect of abdominal acupuncture in treating allergic rhinitis(AR).Methods Twenty-seven AR patients who attended Fangshan Hospital,Beijing University of Chinese Medicine from August to October 2022 were selected.They were divided into treatment group(15 cases)and control group(12 cases)according to randomized numerical table method.The treatment group received abdominal acupuncture.The control group at the same point was used one-time sterile cannula acupuncture to simulate acupuncture,but no needle was inserted into the acupoint.Two groups were treated,3 times a week for 4 weeks.The visual analogue scale(VAS),rhinoconjunctivitis quality of life questionnaire(RQLQ),Pittsburgh sleep quality index(PSQI)scores,and the histamine(HIS),leukotriene D4(LTD4),immunoglobulin E(IgE)levels were compared between two groups before and after treatment.Results At each time point after treatment,the VAS,RQLQ,PSQI scores and HIS,LTD4,IgE levels of patients in treatment group were significantly lower than those before treatment(P<0.05).There were no statistically significant differences in VAS,RQLQ,and PSQI scores,the HIS,LTD4,and IgE levels after 2-week treatment in both groups(P>0.05).After 4-week treatment and follow-up 4-week,the VAS,RQLQ,and PSQI scores,the HIS,and LTD4 levels in treatment group were significantly lower than those in control group(P<0.05).Conclusion Abdominal acupuncture has good therapeutic effect on AR and significantly improves life quality of the patients,which can reduce the levels of HIS,LTD4 and IgE.The therapy is worthy of clinical application.

Objective:To evaluate the efficacy and safety of hypomethylating agents (HMA) in patients with myelodysplastic syndromes (MDS) .Methods:A total of 409 MDS patients from 45 hospitals in Zhejiang province who received at least four consecutive cycles of HMA monotherapy as initial therapy were enrolled to evaluate the efficacy and safety of HMA. Mann-Whitney U or Chi-square tests were used to compare the differences in the clinical data. Logistic regression and Cox regression were used to analyze the factors affecting efficacy and survival. Kaplan-Meier was used for survival analysis. Results:Patients received HMA treatment for a median of 6 cycles (range, 4-25 cycles) . The complete remission (CR) rate was 33.98% and the overall response rate (ORR) was 77.02%. Multivariate analysis revealed that complex karyotype ( P=0.02, OR=0.39, 95% CI 0.18-0.84) was an independent favorable factor for CR rate. TP53 mutation ( P=0.02, OR=0.22, 95% CI 0.06-0.77) was a predictive factor for a higher ORR. The median OS for the HMA-treated patients was 25.67 (95% CI 21.14-30.19) months. HMA response ( P=0.036, HR=0.47, 95% CI 0.23-0.95) was an independent favorable prognostic factor, whereas complex karyotype ( P=0.024, HR=2.14, 95% CI 1.10-4.15) , leukemia transformation ( P<0.001, HR=2.839, 95% CI 1.64-4.92) , and TP53 mutation ( P=0.012, HR=2.19, 95% CI 1.19-4.07) were independent adverse prognostic factors. There was no significant difference in efficacy and survival between the reduced and standard doses of HMA. The CR rate and ORR of MDS patients treated with decitabine and azacitidine were not significantly different. The median OS of patients treated with decitabine was longer compared with that of patients treated with azacitidine (29.53 months vs 20.17 months, P=0.007) . The incidence of bone marrow suppression and pneumonia in the decitabine group was higher compared with that in the azacitidine group. Conclusion:Continuous and regular use of appropriate doses of hypomethylating agents may benefit MDS patients to the greatest extent if it is tolerated.

Objective To evaluate the clinical efficacy and safety of transcatheter arterial infusion with gemcitabine and nab-paclitaxel(GN)as first-line therapy in treating patients with advanced pancreatic cancer.Methods The clinical data of a total of 50 patients with advanced pancreatic cancer,who were treated with transcatheter arterial infusion chemotherapy with GN regimen at the Zhejiang Cancer Hospital of China between January 2016 and December2020,were collected The objective effective rate(ORR),progression-free survival(PFS),overall survival(OS)and treatment-related toxic reactions were analyzed.Results A total of 236 times of transcatheter arterial infusion chemotherapy were carried out in the 50 patients,with an average perfusion procedure of 4.72 times per patient.Complete remission(CR)was obtained in 0 patient,partial remission(PR)in 16 patients,and stable disease(SD)in 21 patients.The ORR was 32％,the median PFSwas5.1 months,and the OS was 9.8 months.The main adverse events included neutropenia,thrombocytopenia,vomiting,nausea,fatigue,etc.Conclusion For patients with advanced pancreatic cancer,transcatheter arterial infusion chemotherapy with GN regimen carries good short-term efficacy and safety,it can improve patient's PFS and OS to a certain extent.(J Intervent Radiol,2024,33:512-515)