Objective:To explore the clinical and genetic characteristics of four children with Kabuki syndrome (KS) due to variants of KMT2D gene. Methods:Four children with KS diagnosed at the Children′s Hospital of Shanxi Province between January 2020 and December 2022 were selected as the study subjects. Whole exome sequencing was carried out for the children and their family members. Candidate variants were verified by Sanger sequencing and pathogenicity analysis.Results:The KS phenotype scores for the four children were 7, 8, 6, and 6, respectively. Child 2 also presented with a rare solitary kidney malformation. Genetic testing revealed that all children had harbored novel de novo variants of the KMT2D gene, including c. 16472_16473del, c. 858dup, c. 11899C>T, and c. 12844C>T, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were classified as pathogenic. Conclusion:For children showing phenotypes such as distinctive facial features, intellectual disability, developmental delay, cardiac abnormalities, and urinary system anomalies, KS should be considered. Early diagnosis and intervention can be achieved through genetic testing, especially in the presence of KMT2D gene mutations.

Objective:To investigate the applicable effect of anatomical retroperitoneoscopic adrenalectomy in treating patients with adrenal tumors.Methods:A total of 112 patients with adrenal tumors admitted to the Department of urology of The Third Medical Center of Chinese PLA General Hospital from January 2016 to January 2021 were selected as research subjects，and they were divided into control group and study group according to the double-blind method，with 56 cases in each group. The patients in the control group were treated with laparoscopic transabdominal adrenalectomy，while the patients in the study group were treated with anatomical retroperitoneoscopic adrenalectomy. The clinical indicators of the two surgical methods were compared. Before and six hours after surgery，the serum levels of inflammatory factors including interleukin-6（IL-6），interleukin-1β（IL-1β），and hypersensitive C-reactive protein（hs-CRP）were detected by enzyme-linked immunosorbent assay（ELISA），and the electrolytes such as Na +，K +，and bicarbonate（HCO 3-）were detected by the America-made Medica electrolyte analyzer. The prognosis and incidence of complications in the two groups were observed. Results:Compared with the control group，the time spent in operation，the time spent for drainage tube placement and gastrointestinal function recovery，and hospital stay were all shorter in the study group（ P < 0.05 or P < 0.01）. After surgery，the serum levels of IL-6，IL-1β，and hs-CRP in the study group were significantly lower than those in the control group，and the levels of Na + and HCO 3- in the study group were also lower than those in the control group，while the K + level was higher than that in the control group，all with statistically significant differences（ P < 0.05 or P < 0.01）. The incidence of complications in the study group［3.57%（2/56）］was significantly lower than that in the control group［（14.29%（8/56）］，with statistically significant difference（ P < 0.05）. No recurrence or metastasis occurred in the two groups during the six-month follow-up after surgery. Conclusion:Anatomical retroperitoneoscopic adrenalectomy can better reduce the surgery trauma to patients with adrenal tumors，lessen the impact on the internal environment of patients，effectively promote the postoperative rehabilitation process，and has higher safety.

Objective:To investigate the applicable effect of anatomical retroperitoneoscopic adrenalectomy in treating patients with adrenal tumors.Methods:A total of 112 patients with adrenal tumors admitted to the Department of urology of The Third Medical Center of Chinese PLA General Hospital from January 2016 to January 2021 were selected as research subjects，and they were divided into control group and study group according to the double-blind method，with 56 cases in each group. The patients in the control group were treated with laparoscopic transabdominal adrenalectomy，while the patients in the study group were treated with anatomical retroperitoneoscopic adrenalectomy. The clinical indicators of the two surgical methods were compared. Before and six hours after surgery，the serum levels of inflammatory factors including interleukin-6（IL-6），interleukin-1β（IL-1β），and hypersensitive C-reactive protein（hs-CRP）were detected by enzyme-linked immunosorbent assay（ELISA），and the electrolytes such as Na +，K +，and bicarbonate（HCO 3-）were detected by the America-made Medica electrolyte analyzer. The prognosis and incidence of complications in the two groups were observed. Results:Compared with the control group，the time spent in operation，the time spent for drainage tube placement and gastrointestinal function recovery，and hospital stay were all shorter in the study group（ P < 0.05 or P < 0.01）. After surgery，the serum levels of IL-6，IL-1β，and hs-CRP in the study group were significantly lower than those in the control group，and the levels of Na + and HCO 3- in the study group were also lower than those in the control group，while the K + level was higher than that in the control group，all with statistically significant differences（ P < 0.05 or P < 0.01）. The incidence of complications in the study group［3.57%（2/56）］was significantly lower than that in the control group［（14.29%（8/56）］，with statistically significant difference（ P < 0.05）. No recurrence or metastasis occurred in the two groups during the six-month follow-up after surgery. Conclusion:Anatomical retroperitoneoscopic adrenalectomy can better reduce the surgery trauma to patients with adrenal tumors，lessen the impact on the internal environment of patients，effectively promote the postoperative rehabilitation process，and has higher safety.

Objective: To investigate the clinical significance of tumor associated macrophages (TAM) in multiple myeloma (MM) and the relationship with angiogenesis and immunosuppression. Methods: Seventy cases of MM patients diagnosed from August 2015 to June 2017 were enrolled in the study as experimental group, 20 cases of benign hematological diseases (13 with iron deficiency anemia and 7 with megaloblastic anemia) patients as control group. Immunohistochemical method was used to detect the expression of CD163, CD34 and VEGF in bone marrow samples, and flow cytometry was used to detect the proportion of regulatory T cell (Treg cells), ELISA was used to detect the level of IL-10, and the clinical features were analyzed. Results: ①Among the 70 patients, there were 31 males and 39 females with a median age of 65 (50~78) years old. TAM infiltration density, microvascular density (MVD), VEGF expression level, Treg ratio and IL-10 level in bone marrow samples of 70 MM patients were significantly higher than those of benign hematological diseases (P<0.05). ②In the MM group, the above indexes of the patients with disease stabilized (15 cases) were lower than those of the newly diagnosed group (35 cases) and the relapse refractory group (20 cases) (P<0.05), those of relapse refractory group were higher than those of newly diagnosed group (P>0.05). ③Of the 35 newly diagnosed MM patients, 27 completed 4 courses of treatment. In the effective group (15 cases), the TAM infiltration density after treatment was significantly lower than that before treatment, the difference was statistically significant[(20.20±7.66) vs (28.87±11.97), t=2.362, P=0.025]; while in the ineffective group of 12 cases, the difference of the TAM infiltration density before and after treatment was not statistically significant[(42.00±13.76) vs (48.25±13.59), t=1.119, P=0.275]. ④TAM infiltration density in the effective group after bortezomib treatment (21 cases) were lower than those in the non-bortezomib treatment group (18 cases)[(16.52 ±4.26) vs (19.27 ±5.82), t=1.662, P=0.170]. ⑤The TAM infiltration density in MM patients was positively correlated with MVD, VEGF expression level, Treg cell ratio and IL-10 level (P<0.001). Conclusion The infiltration of TAM in the microenvironment of MM, which may promoting angiogenesis and inhibiting immune response, is related to the occurrence, development, therapeutic effect and drug resistance of MM.