Objective:To observe the effect of local excision under ultrasonography with immediate mammoplasty in granulomatous lobular mastitis.Methods:Fifty-three patients with granulomatous lobular mastitis admitted from Jan 2017 to Jul 2020 were retrospectively analyzed. Combined with sonographic findings and clinical manifestations, patients were divided into four types: type Ⅰ, single mass; Type Ⅱ, single mass located in one quadrant with one or no skin lesion; Type Ⅲ, multi-quadrant involved with one or no skin lesion; Type Ⅳ, multiple abscesses with multiple lesions in the skin. Twenty-five patients underwent wide local excision (control group); Twenty-eight patients underwent local excision under ultrasonography with immediate mammoplasty (experiment group). Patients with erythema nodosum or in type Ⅳ were given antibiotics and corticosteroid therapy preoperatively for 1 week and postoperatively for 5 days. The others went straight to surgery.Results:All patients were followed up for 1 year. In the experiment group, 28 patients had primary wound healing, and 3 patients had poor wound healing after operation (all were of type Ⅳ). The control group had 6 cases of recurrence(were of type Ⅲ and type Ⅳ). There was significant difference of the recurrence rate between the two groups (0 vs. 24%, χ 2=6.033, P=0.014), and the aesthetic effect of local excision under ultrasonography with immediate mammoplasty was better than that of wide local excision(93% vs. 68%, χ 2=5.330, P=0.020). Conclusion:The recurrence rate of local excision under ultrasonography with immediate mammoplasty is low, and with a satisfactory cosmetic effect.

Objective:To develop and validate an clinical prediction model for the risk of breast cancer-related lymphedema (BCRL).Methods:Breast cancer patients who were prepared to undergo axillary lymph node dissection were propsectively enrolled, indocyanine green combined with Photodynamic Eye (PDE) was applied to reveal the arm lymphatic flow . The arm lymphatic fluorescence images were collected to calculate the proportion of arm lymph flow above and below the axilla vein. Volumetric measurements of both arms and subjective questionnaire were performed to evaluate the occurrence of lymphedema. A difference in volume between the arms >10% was defined as lymphedema. Univariate logistic regression analysis was used to analyze the relationship between each factor and BCRL. The stepwise forward method was used to include multiple factors in the logistic regression analysis to establish the prediction model.Results:Three hundred and twelve patients were enrolled. Fourty-five (14.4%) patients developed BCRL. Using the coefficients obtained from multivariate analysis, BMI ( OR 95% CI: 1.34 (1.25-1.77), P<0.05), chemotherapy ( OR 95% CI: 2.26 (1.97-2.63), P<0.05), regional lymph node radiotherapy ( OR 95% CI: 1.59 (1.05-2.41), P<0.05) and the proportion of arm lymph flow above the level of the axillary vein ( OR 95% CI: 0.70 (0.68-0.81), P<0.05) were identified as independent predictive factors for BCRL, and the following prediction equation was derived: Y=0.369×(BMI at surgery)+0.713×(taxane-based chemotherapy)+0.862×(radiotherapy)-9.058×(proportion of the arm lymph above the axillary vein)-6.859 8. The ROC curve was screened to the optimal boundary value of 0.118 6 by the Youden's index. The sensitivity, specificity, positive predictive value and negative predictive value of prediction of this model were 93.3%, 79.4%, 73.3%, 98.6%, respectively. Conclusion:With the guidance of the predictive model, particular patients who need the preservation of axillary lymphatic system can be identified, and timely intervention can be carried out.

Objective:To examine the effect of“lesion removal plus whole breast exploration and washing plus micro-plastic surgery”in granulomatous lobular mastitis.Methods:A single-center prospective randomized controlled study method was used to enroll patients diagnosed with granulomatous lobular mastitis for whom surgical procedures were projected from March 2017 to September 2019 at Department of Thyroid and Breast Surgery, Zhongnan Hospital of Wuhan University. The sample size is determined by the superiority test. Based on the literatures and the previous work, the two groups require 97 cases. Fifty-two patients underwent“lesion removal+whole breast exploration and washing plus micro-plastic surgery”(observation group). Forty-five cases underwent“empirical breast lesion resection plus fascia tissue flap plasty plus nipple and areola correction”(control group). The primary study endpoint is the recurrence rate, and the secondary study endpoints include surgical complications, incision healing time, and postoperative patient satisfaction. Independent sample t test, Wilcoxon rank-sum test, χ2 test and Fisher exact test were used for comparison between groups. Results:All procedures were completed successful, with no severe complications. All patients were followed up for (15.2±1.9) months (range: 12 to 24 months). There were no significant differences in incidence of postoperative complications (7.7% (4/52) vs. 6.7%(3/45), P=1), drainage time ((8.6±0.6) days vs. (8.4±0.8) days, t=1.921, P=0.053) and hospital stay ((7.7±0.6) days vs. (7.6±0.5) days, t=1.633, P=0.102) between the two groups. The recurrence rate of the observation group was lower significantly than that of the control group (3.8% (2/52) vs. 24.4%(11/45), χ2=8.819, P=0.003). The observation group had better cosmetic effects ( Z=-2.657, P=0.008) and patient satisfaction than control group ( Z=-5.730, P=0.000). Conclusion:The “lesion removal plus whole breast exploration and flushing plus micro-plastic surgery” has a good therapeutic effect and cosmetic value for patients with refractory granulomatous lobular mastitis.

Objective:To examine the effect of“lesion removal plus whole breast exploration and washing plus micro-plastic surgery”in granulomatous lobular mastitis.Methods:A single-center prospective randomized controlled study method was used to enroll patients diagnosed with granulomatous lobular mastitis for whom surgical procedures were projected from March 2017 to September 2019 at Department of Thyroid and Breast Surgery, Zhongnan Hospital of Wuhan University. The sample size is determined by the superiority test. Based on the literatures and the previous work, the two groups require 97 cases. Fifty-two patients underwent“lesion removal+whole breast exploration and washing plus micro-plastic surgery”(observation group). Forty-five cases underwent“empirical breast lesion resection plus fascia tissue flap plasty plus nipple and areola correction”(control group). The primary study endpoint is the recurrence rate, and the secondary study endpoints include surgical complications, incision healing time, and postoperative patient satisfaction. Independent sample t test, Wilcoxon rank-sum test, χ2 test and Fisher exact test were used for comparison between groups. Results:All procedures were completed successful, with no severe complications. All patients were followed up for (15.2±1.9) months (range: 12 to 24 months). There were no significant differences in incidence of postoperative complications (7.7% (4/52) vs. 6.7%(3/45), P=1), drainage time ((8.6±0.6) days vs. (8.4±0.8) days, t=1.921, P=0.053) and hospital stay ((7.7±0.6) days vs. (7.6±0.5) days, t=1.633, P=0.102) between the two groups. The recurrence rate of the observation group was lower significantly than that of the control group (3.8% (2/52) vs. 24.4%(11/45), χ2=8.819, P=0.003). The observation group had better cosmetic effects ( Z=-2.657, P=0.008) and patient satisfaction than control group ( Z=-5.730, P=0.000). Conclusion:The “lesion removal plus whole breast exploration and flushing plus micro-plastic surgery” has a good therapeutic effect and cosmetic value for patients with refractory granulomatous lobular mastitis.

Background::Heterotaxy (HTX) is a thoracoabdominal organ anomaly syndrome and commonly accompanied by congenital heart disease (CHD). The aim of this study was to analyze rare copy number variations (CNVs) in a HTX/CHD cohort and to examine the potential mechanisms contributing to HTX/CHD.Methods::Chromosome microarray analysis was used to identify rare CNVs in a cohort of 120 unrelated HTX/CHD patients, and available samples from parents were used to confirm the inheritance pattern. Potential candidate genes in CNVs region were prioritized via the DECIPHER database, and PNPLA4 was identified as the leading candidate gene. To validate, we generated PNPLA4-overexpressing human induced pluripotent stem cell lines as well as pnpla4-overexpressing zebrafish model, followed by a series of transcriptomic, biochemical and cellular analyses. Results::Seventeen rare CNVs were identified in 15 of the 120 HTX/CHD patients (12.5%). Xp22.31 duplication was one of the inherited CNVs identified in this HTX/CHD cohort, and PNPLA4 in the Xp22.31 was a candidate gene associated with HTX/CHD. PNPLA4 is expressed in the lateral plate mesoderm, which is known to be critical for left/right embryonic patterning as well as cardiomyocyte differentiation, and in the neural crest cell lineage. Through a series of in vivo and in vitro analyses at the molecular and cellular levels, we revealed that the biological function of PNPLA4 is importantly involved in the primary cilia formation and function via its regulation of energy metabolism and mitochondria-mediated ATP production. Conclusions::Our findings demonstrated a significant association between CNVs and HTX/CHD. Our data strongly suggested that an increased genetic dose of PNPLA4 due to Xp22.31 duplication is a disease-causing risk factor for HTX/CHD.