OBJECTIVE: To explore the genetic etiology of a child with lymphangiectasia and lymphedema. METHODS: DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing. RESULTS: The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents. CONCLUSION The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.

Objective:To study the effects of immunity index and blood inflammatory markers pre- and post-radiotherapy on prognosis of esophageal cancer patients with clinical stage Ⅲ.Methods:A total of 84 esophageal cancer patients with clinical stage Ⅲ (T 4N 1M 0) in Fourth Hospital of Hebei Medical University were analyzed, from May 2010 to April 2012. Intensity-modulated radiotherapy was delivered with a dose of 56-66 Gy/1.8-2.0 Gy per fraction. Flow cytometry was used to analyze the distribution of T-lymphocyte subsets (CD3, CD4, CD8, CD4/CD8) and natural killer cells (CD56) in the peripheral blood pre- and post- radiotherapy. Neutrophil-lymphocyte ratio (NLR) pre- and post- radiotherapy were also tested. The correlation of immunity index and blood inflammatory markers with prognosis was analyzed by univariate and multivariate analysis. Results:For all patients, the 1-, 3- and 5-year overall survival (OS) rates were 78.57%, 34.52% and 19.59%, respectively. The median OS time was 22.60 months. The 1-, 3- and 5-year progression free survival (PFS) rates were 69.05%, 27.38% and 12.09%, respectively. The median PFS time was 21.20 months. The objective response rate was 61.90%, with 11 patients of complete remission (CR) and 41 patients of partial remission (PR). Univariate analysis revealed that NLR before radiotherapy, T-lymphocyte subsets (CD3, CD4 and CD4/CD8) after radiotherapy were significantly associated with OS and PFS (OS: χ 2=7.851, 4.443, 8.381, 5.972, P<0.05, PFS: χ 2= 7.475, 6.290, 9.659, 8.738, P<0.05). Multivariate COX regression analysis showed that NLR before radiotherapy, T-lymphocyte subsets (CD4, CD4/CD8) after radiotherapy were independent prognostic factors for OS (χ 2=10.464, 4.292, 5.507, P<0.05). The NLR before radiotherapy and CD4/CD8 after radiotherapy were independent prognostic factors for PFS (χ 2=10.835, 8.545, P<0.05). Conclusions:Radiotherapy may influence the immune function. NLR before radiotherapy and CD4/CD8 after radiotherapy are of great value in predicting the prognosis of esophageal cancer patients.

Objective:To evaluate the recurrence patterns of esophageal squamous cell carcinoma (ESCC) after radical surgery and analyze the predictors of post-recurrence survival (PRS).Methods:A total of 382 ESCC patients who developed recurrence after radical surgery were retrospectively reviewed from January 2007 to December 2011. All of them received salvage treatment after recurrence. The Univariate analysis was determined using the Kaplan-Meier method and log-rank test. Multivariate prognostic analysis was determined using the Cox proportional hazard model.Results:The 1-, 3-, 5-year overall survival (OS) rates were 80.9%, 35.6% and 20.4%, respectively. The median survival time and recurrence time were 29.2 months and 15.0 months. The 1-, 3-, 5-year PRS rates were 37.7%, 14.6% and 11.9%, respectively. The median PRS time was 10.2 months. Locoregional recurrence was noted at 462 sites among 382 patients including 20.5% (95/462) of sites in supraclavicular LN (lymph node), 10.0% (46/462) in anastomosis, 56.1% (259/462) in mediastinal regional LN and 13.4% (62/462) in upper abdominal LN. There were 156, 43, 82 and 101 patients treated with salvage radiotherapy, chemotherapy, chemoradiotherapy and palliative care after recurrence, respectively. The univariate analysis showed that T stage, N stage, TNM stage, recurrence site, number of recurrent regions and treatment regimen after recurrence were significantly correlated with PRS ( χ2=5.336, 4.292, 8.067, 7.482, 4.093, 76.426, P<0.05). Patients receiving salvage radiotherapy with the median dose of 60 Gy, were divided into <60 Gy group and ≥ 60 Gy group. The ≥60 Gy group had a better PRS than <60 Gy group ( χ2=8.320, P<0.05). Multivariate analysis showed that number of recurrent regions and treatment regimen were independent prognostic factors of PRS. Conclusions:Mediastinal and supraclavicular regions were the most common sites of recurrence in ESCC patients after radical surgery. Salvage radiotherapy and chemoradiotherapy could significantly improve PRS in recurrent ESCC patients.

Objective: To study the relationship between the dose-volume indexes and acute toxicity of intrathoracic stomach in esophageal cancer patients receiving radiotherapy after esophagectomy. Methods: A total of 104 patients treated with postoperative radiotherapy followed by radical esophagectomy were enrolled. The dose-volume indexes of intrathoracic stomach were collected from treatment planning system. The ROC curve and logistic regression were performed to analyze the relationship between acute toxicity of intrathoracic stomach and clinical parameters, dose-volume indexes. Results: A total of 29 patients (27.88 %) suffered from grade 2 or above acute toxicity. The ROC curve analysis showed that the dose-volume indexes including D_max, D_mean, L₅-L₄₅ and V₅-V₅₀were associated with occurrence of grade 2 or above acute toxicity. The univariate analysis showed that location, D_max, D_mean, L₅-L₄₅ and V₅-V₅₀ were significantly correlated with the incidence of grade 2 or above acute toxicity (P<0.05). The multivariate analysis showed that location, L₅ and V₃₅ were independent factors for incidence of grade 2 or above acute toxicity. The ROC curve analysis showed that cut-off values of L₅ and V₃₅ were 14.00 cm and 44.00%, respectively. And the rates of Grade 2 or above acute toxicity were 20.00% for L₅>14.00 cm and 38.64% for L₅≥14.00 cm (χ²=4.473, P<0.05), 14.08% for V₃₅<44.00% and 57.58% for V₃₅≥44.00% (χ²=7.263, P<0.05), respectively. The incidence of grade 2 or above acute toxicity was significantly higher in post-mediastinum stomach group than the other two groups (χ²=12.881, P<0.05). Conclusions Dose-volume index may be indicator to predict acute toxicity of intrathoracic stomach. It is recommended that post-mediastinum stomach should be chosen carefully if esophageal cancer patients require postoperative radiotherapy.