ABSTRACT
@#Objective Genetic analysis was performed on a female child with chromosome Xq28 heterozygous deletion and suspected X-linked recessive disease to determine the morbidity and prognosis. Methods A female child was admitted to the hospital on day 20 because of "jaundice for 20 days and difficulty in stopping bleeding at acupuncture sites". Low depth whole genome test of amniocentesis in late pregnancy suggested missing copy number of hemophilia A and X-linked mental retardation type 72. In order to further confirm the diagnosis and prognosis, peripheral blood of the children and their parents were collected for gene testing, chromosome inactivation test and genetic analysis. Results Chromosome Xq28 of the child had 439.4 kb copy number heterozygous deletion variation, which was a clear disease-coding gene for functional loss included in ClinGen database. Chromosome inactivation test showed that the paternal X chromosome of the child was extremely inactivated. Haplotype analysis suggested that the normal chromosome of the subject was inherited from the mother, and there was heterozygous deletion on the paternal X chromosome, so it was inferred that the child will not develop disease or just have mild symptoms. Conclusion It is necessary to analyze the X chromosome inactivation test for female patients with the pathogenic variation of X-linked recessive genetic disease to determine the possibility of the disease.
ABSTRACT
@# Objective: To evaluate the long-term clinical efficacy and follow-up of dendritic cell (DC) vaccines in combination with cytokine-induced killer cell (CIK) treatment in metastatic renal cell carcinoma. Methods: From January 2011 to December 2013, 29 patients with metastatic renal cell carcinoma (pathologically confirmed as renal clear cell carcinoma) were treated by DC vaccines-CIK at the Department of Hematopoietic Stem Cell Transplantation, the Fifth Medical Center of Chinese PLA General Hospital. The 29 patients included 24 male and 5 female, with a median age of 57(32-81) years old. Mature DC vaccine was obtained by gene transfection technology and CIK cells were obtained by i n v i t r o culture; and DC vaccine-CIK was infused back to patients through lymphatic drainage area and vein by each course. Twelve patients received first line treatment, 6 patients received second line treatment after the disease progression by targeted drug therapy or cytokine therapy, and 11 patients received third-linetreatment or above. The long-term clinical efficacy and overall survival rate were evaluated. Results: The median follow-up time was 5 (1-7) years. Treatment cycle was over 2 (2-23) cycles. One case (3.4%) achieved complete remission, 9 cases (31%) achieved partial responses, 13 cases (44.8%) demonstrated stable disease over 3 months and 6 patients (20.7%) developed progressive disease. The objective response rate was 34.4%,and the disease control rate was 79.2%. Stable disease for more than one year realized in 19 cases (65.5%). The 1-, 3- and 5-year survival rates were 93.1% (27/29), 65.5% (20/29) and 51.7% (15 / 29), respectively. Neither the median progression-free survival (PFS) nor the median survival time was achieved. No adverse reactions above grade 3 were observed during treatment. Conclusion: DC vaccines-CIK therapy for the treatment of metastatic renal cell carcinoma is affirmative; it achieved good disease control and long-term survival with controllable safety, and prolonged the survival time for advanced renal cell carcinoma patients.