A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the extremities, hepatomegaly, and neutrophil deficiency. Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene, c.974 (exon 7)_c.975 (exon 7) insG. Her parents were heterozygotes for this locus. The girl was diagnosed with congenital generalized lipodystrophy (CGL), but the association between CGL and neutrophil deficiency remained unclear. Triglyceride was maintained at a normal level after the treatment with a low-fat and high-carbohydrate diet, and there were no obvious changes in signs. CGL is a rare autosomal recessive systemic disease manifested as disappearance of systemic subcutaneous adipose, muscle hypertrophy of the extremities, and metabolic disorders in the neonatal period, such as high triglycerides, hyperinsulinemia, and hyperglycemia. About 95% of CGL cases are caused by mutations in the AGPAT2 or BSCL2 gene.
Facies ; Female ; GTP-Binding Protein gamma Subunits ; Humans ; Hypertriglyceridemia ; Infant ; Lipodystrophy, Congenital Generalized

OBJECTIVE To explore the mechanism of intervention with atherosclerosis(AS)by Qingre Huoxue Yangyin Decoction and its functional units.METHODS The AS model of SD rats was successfully established with high fat diet and balloon injury.The model rats were randomly divided into model group,whole group,Huoxue group,Yangyin group,Qingre group and positive group,and received the intragastric administration,respectively.The blank group was fed with normal diet without medication.The changes of each group on blood lipid,arterial lesion and Th1/Th2-related cytokines were observed af-ter 4 weeks.RESULTS ①Compared to the model group,the whole decoction significantly reduced the plaque proportion and TG(P<0.05),increased HDL-C(P<0.05);reduced Th1-related cytokines TNF-αand INF-γ(P<0.05),increased Th2-re-lated cytokine IL-4(P<0.05).②Each function unit compared with the model group:Yangyin group obviously elevated IL-4 and decreased TG(P<0.05),Qingre group obviously decreased the IFN-γ,LDL-C and plaque proportion(P<0.05),Huox-ue group significantly reduced plaque ratio(P<0.01).CONCLUSION Qingre Yangyin Huoxue Decoction and each function u-nit can play a role in anti-atherogenesis by lowering blood lipids and regulating Th1 and Th2 subpopulations differentiation im-balance.

Objective To observe the acute toxicity and nephrotoxicity of antibacterial peptide R9 in mice.Methods Median lethal dose (LD50) test:Antimicrobial peptide R9 was intraperitoneally injected into mice.After 7 d of observation,the LD50 and 95 ％ confidence limits were calculated according to the Bliss method.Renal toxicity of R9 test:80 mice were randomly divided into 4 groups:the low,medium and high dose (6.7,10,15 mg · kg-1 R9) experimental groups and blank control group (distilled water) were injected intraperitoneally.The blood samples were collected on the 2nd day respectively from 10 mice,then blood indexes were tested.The serum were separated,then creatinine,blood urea nitrogen and total protein were measured.Kidneys and other organs were taken to calculate the organ coefficients.Results The LD50 of antimicrobial peptide R9 was 21.3 mg · kg-1,and its 95％ confidence limit was 19.1-23.5 mg · kg-1.On the second day after administration,WBC (4.07 × 109/L) and RBC (8.96 × 1012/L) in the high dose experimental group decreased compared with the blank control group,the differences were statistically significant difference (P ＜ 0.01,P ＜ 0.05).Creatinine (19.99 μmol · L-1) and urea nitrogen (8.07 mmol · L-1)increased with significant (P ＜0.05,P ＜ 0.01).The total protein (54.18 g · L-1) decreased with significant (P ＜0.05) and the kidney coefficient (13.40 mg· g-1) increased with significant (P ＜ 0.05).Conclusion A single intraperitoneal injection of antimicrobial peptide R9 can produce certain toxicity to mice,and the kidney was the main target organ.Nephrotoxicity was positively correlated with dose,and there was a trend of reversible improvement after withdrawal.

Objective To measure the body fat parameters of adult population in Guangxi, and to explore the characteristics of distribution of fat content with age and gender. Methods A total of 1558 male residents and 2132 female residents were selected by random sampling method . The subjects were divided into 8 groups every 10 years, and the fat parameters were measured and recorded by body composition analyzer. The statistical software SPSS 22. 0 analysed data. Results The total of fat mass and fat content of all parts as well as the subcutaneous and limb fat content of all age groups in Guangxi females were higher than that of the male. The fat content of each part of the male increased first and then decreased with age. It was at the age of 30 that the fat parameters of the male peaked with the highest rates of overweight and obesity. Males had more visceral fat and trunk fat than women at 30-40 years old, and showed predominantly centripetal obesity.Total fat content and fat content of all age groups of female showed a rapid rise at the age of 20-50, and reached a peak at 40 years old. After 50 years old, they slowly decreased and gradually stabilized. The main manifestations of young women were subcutaneous and limb fat increase, which was mainly characterized by centripetal obesity after 40-50 years old, when the rates of overweight and obesity were the highest. Conclusion The body fat content of male and female people in Guangxi increases first and then decreases with age. Twenty-thirty years old of Males and 20-50 years old of female are the key time points for the change of body fat content. In addition of the visceral and trunk fat content, the fat content of different age groups and different parts of female is higher in Guangxi than that of males. The visceral and trunk fat content of Guangxi young adults male is higher than that of females.

Objective: To establish a survival prediction model based on the independent prognostic factors of long-term prognosis after laparoscopic liver resection(LLR) for intrahepatic cholangiocarcinoma(ICC). Methods: The clinical and pathological data of 351 consecutive patients with ICC who received radical LLR in 13 Chinese medical centers from August 2010 to May 2021 were collected retrospectively. There were 190 males and 161 females,aged(M(IQR)) 61(14)years(range:23 to 93 years). The total cohort was randomly divided into a training dataset(264 cases) and a validation dataset(87 cases). The patients were followed up by outpatient service or telephone,and the deadline for follow-up was October 2021. Based on the training dataset,the multivariate Cox proportional hazards regression model was used to screen the independent influencing factors of long-term prognosis to construct a Nomogram model. The Nomogram model's discrimination,calibration,and clinical benefit were evaluated through internal and external validation,and an assessment of the overall value of two groups was made through the use of a receiver operating characteristic(ROC) curve. Results: There was no significant difference in clinical and pathological characteristics and long-term survival results between the training and validation datasets(all P>0.05). The multivariate Cox analysis showed that CA19-9,CA125,conversion to laparotomy during laparoscopic surgery,and lymph node metastasis were independent prognostic factors for ICC patients after LLR(all P<0.05). The survival Nomogram was established based on the independent prognostic factors obtained from the above screening. The ROC curve showed that the area under the curve of 1, 3 and 5-year overall survival rates of patients in the training dataset were 0.794(95%CI:0.721 to 0.867),0.728(95%CI:0.618 to 0.839) and 0.799(95%CI:0.670 to 0.928),and those in the validation dataset were 0.787(95%CI:0.660 to 0.915),0.831(95%CI:0.678 to 0.983) and 0.810(95%CI:0.639 to 0.982). Internal and external validation proved that the model exhibited a certain discrimination,calibration,and clinical applicability. Conclusion: The survival Nomogram model based on the independent influencing factors of long-term prognosis after LLR for ICC(including CA19-9,CA125,conversion to laparotomy during laparoscopic surgery,and lymph node metastasis) exhibites a certain differentiation,calibration,and clinical practicability.
Bile Duct Neoplasms/surgery* ; Bile Ducts, Intrahepatic/pathology* ; CA-19-9 Antigen ; Cholangiocarcinoma/diagnosis* ; Female ; Humans ; Laparoscopy ; Lymphatic Metastasis ; Male ; Nomograms ; Prognosis ; Retrospective Studies

OBJECTIVE: To study the long-term clinical effect of multicenter multidisciplinary treatment (MDT) in children with renal malignant tumors. METHODS: A retrospective analysis was performed on the medical data of 55 children with renal malignant tumors who were diagnosed and treated with MDT in 3 hospitals in Hunan Province from January 2015 to January 2020, with GD-WT-2010 and CCCG-WT-2016 for treatment regimens. A Kaplan-Meier survival analysis was used to analyze the survival of the children. RESULTS: Of the 55 children, 10 had stage I tumor, 14 had stage Ⅱ tumor, 22 had stage Ⅲ tumor, 7 had stage IV tumor, and 2 had stage V tumor. As for pathological type, 47 had FH type and 8 had UFH type. All children underwent complete tumor resection. Of the 55 children, 14 (25%) received preoperative chemotherapy. All children, except 1 child with renal cell carcinoma, received postoperative chemotherapy. Among the 31 children with indication for radiotherapy, 21 (68%) received postoperative radiotherapy. One child died of postoperative metastasis. The incidence rate of FH-type myelosuppression was 94.4%, and the incidence rate of UFH-type myelosuppression was 100%. The median follow-up time was 21 months and the median survival time was 26 months for all children, with an overall survival rate of 98% and an event-free survival rate of 95%. CONCLUSIONS Multicenter MDT has the advantages of high success rate of operation and good therapeutic effect of chemotherapy in the treatment of children with renal malignant tumors, with myelosuppression as the most common side effects, and radiotherapy is safe and effective with few adverse events. Therefore, MDT has good feasibility, safety, and economy.
Child ; Family ; Humans ; Kidney Neoplasms/therapy* ; Progression-Free Survival ; Retrospective Studies