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 induding, 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.

Objective To explore the effects of Shenyuan Yiqi Huoxue Capsules on cardiopulmonary exercise function and quality of life in patients with ischemic cardiomyopathy.Methods Totally 66 patients with ischemic cardiomyopathy were divided into treatment group and control group using random number table method,with 33 cases in each group.Both groups received standardized Western medicine treatment,and the treatment group was additionally given Shenyuan Yiqi Huoxue Capsules,the control group was given Shenyuan Yiqi Huoxue Capsules simulator,three capsules per time,three times a day,orally.The observation period was 30 days.To evaluate the efficacy of TCM syndrome in two groups.The observation indicators included baseline data,TCM syndrome scores,cardiopulmonary exercise test detection indicators,MLHFQ score,SF-36 score,echocardiographic indicators,N-terminal pro-B-type natriuretic peptide(NT-pro BNP)and safety indicators.Results The total effective rate of the treatment group was 93.94%(31/33),while that of the control group was 78.79%(26/33).The treatment group was significantly better than the control group(P<0.05).Compared with before treatment,the TCM syndrome scores of the two groups of patients decreased(P<0.05),and after treatment,the TCM syndrome score of the treatment group was lower than that of the control group(P<0.05).Compared with before treatment,the peak oxygen uptake(peak VO2),anaerobic threshold(AT)and peak oxygen pulse(peak O2 pulse)of both groups of patients increased,while the carbon dioxide ventilation equivalent slope(VE/VCO2 slope)decreased(P<0.05).After treatment,the treatment group had higher peak VO2,AT and peak O2 pulse than the control group,while the VE/VCO2 slope was lower than the control group(P<0.05).Compared with before treatment,both groups of patients showed a decrease in MLHFQ score and an increase in SF-36 score(P<0.05);after treatment,the MLHFQ score in the treatment group was lower than that in the control group,and the SF-36 score was higher than that in the control group(P<0.05).Compared with before treatment,both groups of patients showed a decrease in left ventricular end systolic diameter,left ventricular end diastolic diameter and NT-pro BNP levels,while myocardial motion index and left ventricular ejection fraction increased(P<0.05);after treatment,the treatment group showed a decrease in left ventricular end systolic diameter,left ventricular end diastolic diameter and NT-pro BNP levels,while myocardial motion index and left ventricular ejection fraction increased(P<0.05).During the treatment period,no adverse reactions such as dizziness,nausea,vomiting or diarrhea were found in both groups of patients.Conclusion Shenyuan Yiqi Huoxue Capsules can significantly improve the clinical efficacy of ischemic cardiomyopathy patients,alleviate TCM symptoms,improve their cardiorespiratory function and quality of life.

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 investigate the risk factors for acute respiratory failure in immunocompromised patients with Pneumocystis jirovecii pneumonia(PJP).Methods Clinical data of 123 immunocompromised patients complicated with PJP hospitalized at Mengchao Hepatobiliary Hospital of Fujian Medical University from January 2021 to December 2023 were retrospectively collected and analyzed.SPSS 22.0 statistical software package was used to perform multivariate binary logistic regression analysis to identify risk factors for acute respiratory failure in PJP patients.Results Among the 123 PJP patients,77 were HIV-positive,and 46 were HIV-negative.HIV-negative PJP patients were more likely to have comorbidities such as hypertension(P＜0.001),diabetes mellitus(P＜0.001),coronary heart disease(P=0.034),chronic kidney disease(P＜0.001),chronic liver disease(P=0.019),chronic lung disease(P=0.011),and malignant tumor(P＜0.001).They were also more prone to respiratory failure(P＜0.001)and ICU admission(P＜0.001).The HIV-positive patients had significantly lower CD4+T lymphocyte counts and albumin levels(P＜0.001).Forty patients developed acute respiratory failure,and six patients died.Multivariate analysis showed that high neutrophil-to-lymphocyte ratio(NLR)(P=0.031),non-HIV infection(P=0.002),and concomitant infections with other pathogens(P＜0.001)were independent risk factors for incidence of respiratory failure.ROC curve analysis revealed that the area under the curve(AUC)was 0.686(0.584,0.789)for non-HIV infection,0.731(0.637,0.826)for concomitant infections with other pathogens,0.648(0.546,0.750)for NLR.The predicted probability was 0.845(0.778,0.912).Conclusions Non-HIV infection,high NLR,and concomitant infections with other pathogens are independent risk factors for incidence of respiratory failure in PJP patients.The panel combining these factors provides a higher predictive value for respiratory failure.Timely assessment of patient condition and early treatment are vital for better outcomes.

Objective:To construct and validate a predictive model for postoperative recurrence in early non-small cell lung cancer patients.Methods:The clinical data of 252 patients with early non-small cell lung cancer admitted to the 926th Hospital of Joint Logistic Support Force of PLA from January 2016 to January 2018were retrospectively collected. All of the patients underwent surgical treatment and they were followed up for 5 years after surgery, according the recurrence after surgery, they were divided into the recurrence group (103 cases) and non- recurrence group (149 cases). The risk factors for postoperative recurrence in early non-small cell lung cancer patients were analyzed. A predictive model for postoperative recurrence in early non-small cell lung cancer patients was constructed and validated.Results:The results of Logistic regression analysis showed that tumor long diameter≥ 3 cm, lymph node metastasis, low differentiation, spicules and pleural traction were independent risk factors for postoperative recurrence in early non-small cell lung cancer patients ( P<0.05). Using R4.0.3 statistical software, the dataset was randomly divided into a training set and a validation set, with a sample size of 176 cases in the training set and 76 cases in the validation set. A prediction model was constructed, with thearea under the curve (AUC) of the receiver operating characteristic (ROC) curve of 0.754 (95% CI 0.679 - 0.828) in the training set and AUC of 0.749 (95% CI 0.634 - 0.864) in the validation set. The model was subjected to a Hosmer-Lemeshow Goodness-of-Fit Test in the validation set, χ2 = 11.31, P = 0.185. Conclusions:The predictive model base on tumor long diameter ≥ 3 cm, lymph node metastasis, low differentiation, spicules and pleural traction can identify patients at high risk of postoperative recurrence in early non-small cell lung cancer effectively.

Objective·To explore the relationship between abdominal fat area and the first-phase insulin secretion function of pancreatic β-cells in patients with type 2 diabetes,and to establish predictive models of nomogram.Methods·From October 2020 to February 2024,a total of 120 patients with type 2 diabetes,who were hospitalized in the Department of Endocrinology,Zhongshan Hospital,Fudan University,and underwent the arginine stimulation test,were recruited for the study.Patients were categorized into an insulin secretion function-preserved group(i.e.preserved group)and a depleted group according to the results of the arginine stimulation test.General information and laboratory parameters were collected.Subcutaneous fat area(SFA)and visceral fat area(VFA)were non-invasively measured by abdominal fat detector.The variables were screened by univariate analysis,and multivariate Logistic regression was used to identify the influencing factors,followed by the establishment of predictive models of nomogram.The area under the receiver operating characteristic curve(ROC curve)and concordance index(C-index)were used to evaluate the predictive performance of the models.Results·Seventy-four patients(61.7%)were assigned to the preserved group,and 46 patients(38.3%)to the depleted group.Patients in the depleted group had a longer diabetes duration,lower waist circumference,hip circumference,body mass index(BMI),uric acid,free triiodothyronine(FT3),adipose tissue insulin resistance(Adipo-IR),ankle brachial index(ABI),SFA and VFA,and higher brachial ankle pulse wave velocity(baPWV).Multivariate Logistic regression showed that SFA,VFA,FT3,baPWV,and ABI were independent risk factors for the depleted insulin secretion function.Nomogram models were constructed based on the above risk factors.Among them,the model comprising VFA,FT3,ABI,and baPWV showed the best predictive performance with a C-index of 0.81.Conclusion·SFA and VFA are lower in patients with depleted first-phase insulin secretion function of pancreatic β-cells.The nomogram model,including SFA or VFA,can be used to predict first-phase insulin secretion function of pancreatic β-cells in patients with type 2 diabetes.

Objective To explore the effects of Shenyuan Yiqi Huoxue Capsules on cardiopulmonary exercise function and quality of life in patients with ischemic cardiomyopathy.Methods Totally 66 patients with ischemic cardiomyopathy were divided into treatment group and control group using random number table method,with 33 cases in each group.Both groups received standardized Western medicine treatment,and the treatment group was additionally given Shenyuan Yiqi Huoxue Capsules,the control group was given Shenyuan Yiqi Huoxue Capsules simulator,three capsules per time,three times a day,orally.The observation period was 30 days.To evaluate the efficacy of TCM syndrome in two groups.The observation indicators included baseline data,TCM syndrome scores,cardiopulmonary exercise test detection indicators,MLHFQ score,SF-36 score,echocardiographic indicators,N-terminal pro-B-type natriuretic peptide(NT-pro BNP)and safety indicators.Results The total effective rate of the treatment group was 93.94%(31/33),while that of the control group was 78.79%(26/33).The treatment group was significantly better than the control group(P<0.05).Compared with before treatment,the TCM syndrome scores of the two groups of patients decreased(P<0.05),and after treatment,the TCM syndrome score of the treatment group was lower than that of the control group(P<0.05).Compared with before treatment,the peak oxygen uptake(peak VO2),anaerobic threshold(AT)and peak oxygen pulse(peak O2 pulse)of both groups of patients increased,while the carbon dioxide ventilation equivalent slope(VE/VCO2 slope)decreased(P<0.05).After treatment,the treatment group had higher peak VO2,AT and peak O2 pulse than the control group,while the VE/VCO2 slope was lower than the control group(P<0.05).Compared with before treatment,both groups of patients showed a decrease in MLHFQ score and an increase in SF-36 score(P<0.05);after treatment,the MLHFQ score in the treatment group was lower than that in the control group,and the SF-36 score was higher than that in the control group(P<0.05).Compared with before treatment,both groups of patients showed a decrease in left ventricular end systolic diameter,left ventricular end diastolic diameter and NT-pro BNP levels,while myocardial motion index and left ventricular ejection fraction increased(P<0.05);after treatment,the treatment group showed a decrease in left ventricular end systolic diameter,left ventricular end diastolic diameter and NT-pro BNP levels,while myocardial motion index and left ventricular ejection fraction increased(P<0.05).During the treatment period,no adverse reactions such as dizziness,nausea,vomiting or diarrhea were found in both groups of patients.Conclusion Shenyuan Yiqi Huoxue Capsules can significantly improve the clinical efficacy of ischemic cardiomyopathy patients,alleviate TCM symptoms,improve their cardiorespiratory function and quality of life.

Objective To investigate the risk factors for acute respiratory failure in immunocompromised patients with Pneumocystis jirovecii pneumonia(PJP).Methods Clinical data of 123 immunocompromised patients complicated with PJP hospitalized at Mengchao Hepatobiliary Hospital of Fujian Medical University from January 2021 to December 2023 were retrospectively collected and analyzed.SPSS 22.0 statistical software package was used to perform multivariate binary logistic regression analysis to identify risk factors for acute respiratory failure in PJP patients.Results Among the 123 PJP patients,77 were HIV-positive,and 46 were HIV-negative.HIV-negative PJP patients were more likely to have comorbidities such as hypertension(P＜0.001),diabetes mellitus(P＜0.001),coronary heart disease(P=0.034),chronic kidney disease(P＜0.001),chronic liver disease(P=0.019),chronic lung disease(P=0.011),and malignant tumor(P＜0.001).They were also more prone to respiratory failure(P＜0.001)and ICU admission(P＜0.001).The HIV-positive patients had significantly lower CD4+T lymphocyte counts and albumin levels(P＜0.001).Forty patients developed acute respiratory failure,and six patients died.Multivariate analysis showed that high neutrophil-to-lymphocyte ratio(NLR)(P=0.031),non-HIV infection(P=0.002),and concomitant infections with other pathogens(P＜0.001)were independent risk factors for incidence of respiratory failure.ROC curve analysis revealed that the area under the curve(AUC)was 0.686(0.584,0.789)for non-HIV infection,0.731(0.637,0.826)for concomitant infections with other pathogens,0.648(0.546,0.750)for NLR.The predicted probability was 0.845(0.778,0.912).Conclusions Non-HIV infection,high NLR,and concomitant infections with other pathogens are independent risk factors for incidence of respiratory failure in PJP patients.The panel combining these factors provides a higher predictive value for respiratory failure.Timely assessment of patient condition and early treatment are vital for better outcomes.

Objective:To construct and validate a predictive model for postoperative recurrence in early non-small cell lung cancer patients.Methods:The clinical data of 252 patients with early non-small cell lung cancer admitted to the 926th Hospital of Joint Logistic Support Force of PLA from January 2016 to January 2018were retrospectively collected. All of the patients underwent surgical treatment and they were followed up for 5 years after surgery, according the recurrence after surgery, they were divided into the recurrence group (103 cases) and non- recurrence group (149 cases). The risk factors for postoperative recurrence in early non-small cell lung cancer patients were analyzed. A predictive model for postoperative recurrence in early non-small cell lung cancer patients was constructed and validated.Results:The results of Logistic regression analysis showed that tumor long diameter≥ 3 cm, lymph node metastasis, low differentiation, spicules and pleural traction were independent risk factors for postoperative recurrence in early non-small cell lung cancer patients ( P<0.05). Using R4.0.3 statistical software, the dataset was randomly divided into a training set and a validation set, with a sample size of 176 cases in the training set and 76 cases in the validation set. A prediction model was constructed, with thearea under the curve (AUC) of the receiver operating characteristic (ROC) curve of 0.754 (95% CI 0.679 - 0.828) in the training set and AUC of 0.749 (95% CI 0.634 - 0.864) in the validation set. The model was subjected to a Hosmer-Lemeshow Goodness-of-Fit Test in the validation set, χ2 = 11.31, P = 0.185. Conclusions:The predictive model base on tumor long diameter ≥ 3 cm, lymph node metastasis, low differentiation, spicules and pleural traction can identify patients at high risk of postoperative recurrence in early non-small cell lung cancer effectively.