Objective To report the prenatal molecular diagnosis for two gravida in a family with spondylepiphyseal dysplasia congenita(SEDC)caused by G504S mutation of COL2A1 gene.Methods DNA of the two fetuses was extracted from amniotic fluid at the 19+3 and 18+6 weeks of gestation respectively.Direct sequencing of two samples were performed after amplifying exon 23 of COL2A1 containing the potential mutation.The femur length and biparietal diameter of the first fetus were measured by sonographic scans every two weeks from 17+3 weeks to 27+3 weeks of gestation,and for the second fetus these parameters were measured from 16+1 to 19+1 weeks of gestation.Results Sequncing analysis revealed the first fetus and his mother presented the same mutation which is specifically associated with SEDC,but the second fetus did not show the mutation of COL2A1 gene.Biparietal diameters of the both fetuses were appropriate for gestational age.Femur length of the second fetus was normal for gestational age but that of the first fetus was shortened evidently after the 23 week of gestation.The parents of the first fetus determined to terminate the pregnancy.A medical termination was carried out at 27+5 weeks of gestation and a male fetus with a relatively large head and short limbs was delivered.The radiological findings of the fetus were consistent with SEDC including generalized platy spondesand shortened long bones.Conclusions Prenatal molecular diagnosis is important for the fetus with risk of SEDC and useful for genetic counseling.Genotype of fetus with risk of SEDC can be identified before sonographic scan.Molecular genetic analysis in conjunction with sonographic monitoring was helpful in prenatal diagnosis of SEDC.

Here we report a case of 41-year-old man with a soft tissue density mass at right upper lung and palpable abscesses at right upper backside and right wrist. ¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography demonstrated a 7.8 × 5.0 cm mass with soft-tissue density in the upper lobe of the right lung with high metabolic activity. The infiltrative mass extended to adjacent chest wall soft tissue. Final diagnosis of pulmonary actinomycosis with multiple abscesses was made. The patient responded well to antibiotics treatment.
Abscess ; Actinomycosis/*diagnosis/drug therapy/microbiology ; Adult ; Anti-Bacterial Agents/therapeutic use ; Diagnosis, Differential ; Fluorodeoxyglucose F18/chemistry ; Humans ; Lung Diseases/*diagnosis/drug therapy/microbiology ; Lung Neoplasms/pathology ; Male ; *Positron-Emission Tomography ; Tomography, X-Ray Computed

Objective To evaluate the clinical efficacy of our self-made minimally invasive pelvic channel instrument in the treatment of pelvic ring fracture-dislocation.Methods A retrospective study was conducted of the 35 patients who had been treated for pelvic ring fracture-dislocation from December 2015 to November 2017 and fully followed up at Department I of Orthopaedis,Beijing Chaoyang Emergency Rescue Center.They were 25 males and 10 females,aged from 20 to 73 years (average,41.3 years).According to the Tile classification for pelvic fractures,there were 26 cases of type B (type B1 in 8,type B2 in 12 and type B3 in 6) and 9 cases of type C(type C1 in 5,type C2 in 3 and type C3 in 1).Infix or anterior plate combined with percutaneous internal fixation with sacroiliac cannulated screws was used in 11 patients,sacroiliac triangle fixation combined with percutaneous internal fixation with anterior ring cannulated screws in 5 ones,and internal fixation with cannulated screws for anterior and posterior rings in 19 ones.All the channels were established using our self-made minimally invasive pelvic channel instrument for internal fixation with cannulated screws.The time for each screw placement and the number of X-ray projection were recorded.Postoperative reduction,pelvic function at the final follows-ups and complications were recorded.Results A total of 84 cannulated screws were inserted in the 35 patients.The time for each cannulated screw placement ranged from 5 to 13 minutes (average,8.1 minutes);the number of X-ray projection for each screw placement ranged from 7 to 15 times (average,10.3 times).Postoperative CT showed that all the cannulated screws were located in the preset channels.According to the Matta radiological criteria,postoperative reduction quality was excellent in 29,good in 4 and fair in 2,giving a good to excellent rate of 94.3％.The follow-up time for the 35 patients ranged from 6 to 15 months (average,12.3 months).At the final follow-ups,all the patients showed fine fracture union.There was no loosening or breakage of screws in all but one patient in whom one sacroiliac screw became loose 3 months after surgery.By the Majeed criteria,the pelvic function was excellent in 27 cases,good in 5,fair in 3 and poor in one,giving a good to excellent rate of 91.4％.Conclusion Our self-made minimally invasive pelvic channel instrument can be used to establish pelvic channels,leading to more accurate placement,shorter operative time and less X-ray projection.

Objective:To assess the prognostic value of pretreatment 18F-FDG PET/CT metabolic parameters in patients with primary melanoma. Methods:A retrospective analysis comprised of 35 patients (21 males, 14 females, age: 35-85 years; from January 2014 to August 2019; Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School) who were newly-diagnosed primary melanoma with preoperative 18F-FDG PET/CT was conducted. 18F-FDG PET/CT metabolic parameters including SUV max, SUV mean, peak of SUV (SUV peak) were obtained. Metabolic tumor volume (MTV) and total lesion glycolysis (TLG) of primary focus were measured automatically using the threshold of 40%SUV max. The optimal thresholds of PET parameters were obtained by using ROC curve analysis. The associations between melanoma-specific survival (MSS), progression-free survival (PFS) and PET/CT metabolic parameters were assessed using Kaplan-Meier method and Cox proportional hazards model. Results:The median follow-up was 15.4 months, and 20 patients showed disease progression and 7 died. The cut-off values for SUV max, SUV mean, SUV peak, MTV and TLG were 3.95, 2.45, 2.65, 3.60 cm 3 and 14.85 g, respectively (AUCs: 0.742, 0.790, 0.728, 0.655, 0.693; P values: 0.016, 0.004, 0.022, 0.121, 0.053). Kaplan-Meier method and log-rank test showed that SUV max, SUV mean, SUV peak, MTV and TLG were predictors of PFS ( χ2 values: 4.06-8.35, all P<0.05). Multivariate analysis showed that MTV (hazard ratio ( HR)=3.09, 95% CI: 1.08-8.86, P=0.036) and TLG ( HR=3.36, 95% CI: 1.11-10.14, P=0.031) were significant predictors of PFS but not for MSS ( HR=5.14, P=0.080). Conclusions:SUV max, SUV mean and SUV peak of primary focus may help for predicting PFS of patients with primary melanoma. MTV and TLG of primary focus may be the best to predict PFS of primary melanoma.

Objective:To investigate the clinical efficacy of using INFIX combined with hollow nail in the treatment of anterior pelvic ring injury with symphyseolysis.Methods:Data of 12 patients with anterior pelvic ring injury and symphyseolysis who were treated from January 2016 to December 2018 were retrospectively analyzed. They were 8 males and 4 females with an average age of 39.5 years (range, 23-64 years). There were 4 cases of traffic injury, 3 cases of falling injury and 5 cases of crush injury; all the cases were combined with front and rear crush injury. According to Tile classification for pelvic fractures, there were 6 cases of type B1 , 3 cases of type B3, 1 case of type C1 and 2 cases of type C2. Six cases of B1 and 3 cases of B3 patients used percutaneous inter fixation with sacroiliac joint cannulated screw in posterior ring; 1 case of C1 and 2 cases of C2 used spinal-pelvic fixation. Every patients' operating time of INFIX combined with the pubic symphysis hollow nail , amount of hemorrhage, length of incisions and number of X-ray projections were recorded. Pelvic X-ray and CT scan were taken postoperatively to observe the reduction and screw position. Postoperative reduction quality was assessed using Matta radiological criteria and Majeed criteria was used at the final follow-up to evaluate the pelvic function.Results:The average operating time for 12 patients was 42 min (range, 35-56 min) ; the average amount of hemorrhage was 28 ml (range, 15-40 ml); the average length of incision at INFIX nail placement on both sides were 2.7 cm (range, 2.2-3.5 cm); the average length of incisions at the pubic symphysis hollow nail placement was 0.8 cm (range, 0.6-1.2 cm) and the average number of X-ray projections was 38 times (range, 26-55 times). Postoperative X-ray and CT scan showed that all the hollow screws are located accurately and firmly, and pubic symphysis had good reduction and no infection occurred in the surgical incision at the screw placement site. Postoperative reduction quality was evaluated according to Matta radiological criteria, and there were excellent in 10 and good in 2, giving an excellent to good rate of 100% (12/12). The average follow-up time for the 12 patients was 12 months (range, 6-15 months). At the final follow-up, all patients showed fine fracture union and no looseness of pubic symphysis occurred according to imaging test. According to the Majeed criteria, the pelvic function was excellent in 8 cases, good in 3 cases and fair in 1 case, giving a good to excellent rate of 91.7% (11/12). One case developed symptoms of femoral nerve compression after surgery and returned to normal after removal of the INFIX. Another case had damage to the lateral femoral cutaneous nerve and the symptoms disappeared after three months.Conclusion:Using INFIX combined with hollow nail in the treatment of symphyseolysis can lead to more minimally invasive with excellent postoperative efficacy and markedly reduced the morbidity of complication.

Objective:To assess the prognostic value of pretreatment 18F-FDG PET/CT metabolic parameters in patients with metastatic malignant melanoma treated with anti-programmed cell death-1 (PD1) immunotherapy. Methods:A retrospective analysis of 29 patients (15 males, 14 females, age (59.1±13.0) years) with pathologically diagnosed metastatic malignant melanoma in Nanjing Drum Tower Hospital between June 2017 and October 2020 was conducted. Anti-PD1 immunotherapy were performed in all patients after 18F-FDG PET/CT imaging. 18F-FDG PET/CT parameters including SUV max, bone marrow-to-liver SUV max ratio (BLR), spleen-to-liver SUV max ratio (SLR) were obtained. Total metabolic tumor volume (TMTV) and total lesion glycolysis (TLG) of primary lesions were measured automatically using the thresholds of 40%SUV max. The median value of each PET parameter was regarded as the threshold value and was used to divide patients into 2 groups (≥ and < the median value, respectively). Kaplan-Meier survival curve and Cox proportional risk model were used to analyze the overall survival (OS) differences between groups. Results:The median follow-up time was 15.0 months and 13 patients died. The median OS was 26.0(95% CI: 20.4-31.6) months. The median SUV max, TMTV, TLG, BLR and SLR were 6.2, 8.2 cm 3, 38.6 g, 0.82 and 0.84 respectively. Kaplan-Meier method and log-rank test showed that differences of OS between SUV max≥6.2 and <6.2 groups, TLG≥38.6 g and <38.6 g groups, BLR≥0.82 and <0.82 groups, SLR≥0.84 and <0.84 groups were not significant ( χ2 values: 0.01-0.35, P values: 0.061-0.929), while patients with TMTV≥8.2 cm 3 suffered from poorer OS compared with those with TMTV<8.2 cm 3 ( χ2=5.90, P=0.015). Cox multivariate analysis showed that TMTV (hazard risk ( HR)=6.347, 95% CI: 1.039-38.789) was a significant predictor of OS ( P=0.045). Conclusion:18F-FDG PET/CT parameter TMTV is the independent predictive factor of OS in metastatic melanoma treated with anti-PD1 immunotherapy.

Objective:To investigate the prognostic value of metabolic parameters measured by 18F-FDG PET/CT in patients with primary advanced cutaneous malignant melanoma (CMM). Methods:A retrospective analysis was comprised of 42 patients with advanced CMM (15 males and 27 females; median age: 60.0 years) from Nanjing Drum Tower Hospital, the Affiliated Hospital of Nanjing University Medical School between June 2014 and December 2019. All patients were initially diagnosed by pathology, and underwent 18F-FDG PET/CT imaging. 18F-FDG PET/CT parameters including SUV max, SUV mean, total metabolic tumor volume (TMTV) and total lesion glycolysis (TLG) of metastatic lesions were measured. ROC curve analysis was performed to obtain the optimal cut-off values of those metabolic parameters for predicting progression-free survival (PFS) and over-all survival (OS). Patients were divided into different groups based on their metabolic parameters (≥cut-off values or