Objective To summarize the clinical and imaging characteristics of primary Rosai-Dorfman disease (RDD)in central nervous system in order to understand well its features and improve the diagnosis.Methods The clinical and imaging features in 3 patients with RDD in CNS proved by pathology were retrospectively analyzed in combination with the related literatures.Results The lesions in 2 patients occurred in brain and other lesion in 1 occurred outside the brain.Iso-or slight hyperintensity on T1 WI and marked enhancement of the lesion were found.Single lesion was found in 2 patients near the dura mater and located near the superior sagittal sinus or cervical spinal cord.Multiple lesions in 1 patient were located in the lateral ventricle.Conclusion It’s suggested that single or multiple lesions in dural or spinal meninges located in the midline or near the intracephalic venous system would be considered as RDD in CNS.

Objective: To find out the prognostic influencing factors of patients undergoing continuous renal replacement therapy (CRRT) for refractory acute left heart failure. Methods: Through the medical system and hemodialysis system in Foshan First People's Hospital, all patients who received CRRT for refractory acute left ventricular heart failure from January 1, 2012 to January 1, 2019 were searched. All patients were divided into two groups by the final outcome: survival group and death group. Age, sex, initial mean arterial pressure (MAP), primary heart disease, use of vasoactive drugs, urine output before treatment, hemoglobin, serum creatinine, serum albumin, C-reactive protein(CRP), brain natriuretic peptide (BNP), cardiac ejection fraction (EF) and CRRT treatment time were analyzed to find out the prognostic influencing factors. Results: A total of 130 cases were collected, including 96 cases in the survival group and 34 cases in the death group, with a total mortality rate of 26.15%. Compared to that in the death group, there were higher proportion of males (71.88% vs 50.00%, χ²=5.366, P=0.021), significantly higher initial MAP (t=4.677, P<0.001), much more urine output before treatment (Z=3.904, P<0.001), significantly higher serum creatinine (Z=2.866, P=0.004) , significantly lower hemoglobin (Z=-2.587, P=0.011), significantly shorter time of CRRT (Z=-3.447, P=0.001) in the survival group. Multivariate logistic regression analysis showed that female (OR=2.950, 95%CI 1.102-7.898, P=0.031) and higher levels of hemoglobin (OR=1.024, 95%CI 1.004-1.045, P=0.019) were the risk factors of death in patients undergoing CRRT for refractory acute left heart failure, while higher levels of mean arterial pressure before treatment (OR=0.959, 95%CI 0.930-0.989, P=0.008) and urine volume before treatment (OR=0.998, 95%CI 0.997-0.999, P=0.004) were the protective factors for patients' prognosis. Conclusion The mortality of patients with refractory acute left heart failure undergoing CRRT therapy is still very high. Female and higher level of hemoglobin are the risk factors for death, while more urine volume before treatment and higher MAP before treatment are protective factors for survival.

Objective To compare the influence of hemodialysis (HD) and peritoneal dialysis (PD) on early outcome of patients underwent kidney transplantation from donation after cardiac death (DCD).Methods Patients admitted in the First People's Hospital of Foshan with DCD kidney transplant from January 1st,2011 to June 30th,2016 were analyzed retrospectively.Recipients were grouped into HD group (n=61) and PD group (n=28) according to their pre-transplant dialysis modality.Their short-term outcomes after DCD kidney transplant were compared,including recovery of renal function,short-term complications and laboratory data.Results Patients had longer dialysis duration and lower hemoglobin,serum albumin and phosphorus in PD group than those in HD group (all P ＜ 0.05),but no significant difference shown in age,gender,body mass index,primary disease,blood pressure,and hepatitis B infection (all P ＞ 0.05).HD patients with 6.00(4.00,11.00) d recovery time of renal function,18.00(17.00,21.50) d hospital time,had 24.59％ the delayed graft function (DGF),3.28％ acute rejection and 16.39％ infection during hospitalization.While for PD patients the recovery time of renal function was 4.00(3.75,7.00) d;hospital time was 19.00(15.00,21.75) d;the incidence rate of DGF was 14.29％;acute rejection was 3.57％;and infection during hospitalization reached 17.86％.Above indexes were not significantly different between HD and PD groups (all P ＞0.05).Repeated measure ments showed that,compared with those before transplant surgery,after 1 month,3 months and 6 months HD and PD groups had decreased creatinine and phosphorus,and increased hemoglobinserum albumin and calcium;Serum albumin and calcium were different between the two groups (P ＜ 0.001,P=0.040),whereas creatinine,hemoglobin and phosphorus did not show difference (all P ＜ 0.05).After transplantation the trends of creatinine,hemoglobin,calcium and phosphorus were not different between the two groups (P values were 0.295,0.310,0.501 and 0.063,respectively).Conclusions No significant difference of the recovery regarding renal function,anemia,nutrition status and mineral metabolites was found between pre-transplant HD and PD modality in patients who underwent DCD kidney transplantations.

Objective To investigate the clinical efficacy of renal transplantation from donors of donation after brain and cardiac death(DBCD) complicated with acute kidney injury (AKI),and summarize the clinical experience of evaluation and application.Methods The clinical data of the 45 DBCD donors and 80 recipients in the First People's Hospital of Foshan from September 2011 to September 2015 were retrospectively analyzed.DBCD donors were classified into the AKI group (n=26) and non-AKI group (n=19) according to the serum creatinine level and urine output when the donors were admitted to the intensive care unit (ICU) in this hospital.A total of 80 recipients were divided into the AKI group (n=46) and non-AKI group (n=34) correspondingly.The condition of the donors before organ procurement between the two groups was compared,and the incidence of various complications,the 1 years survival rates of recipients and graft after renal transplantation were compared between the two groups.Results Among 45 donors,26 cases(57.8％) suffered from AKI.The serum creatinine of donors was significantly higher in the AKI group than that in the non-AKI group (P ＜ 0.01).The incidence of delayed graft function (DGF) in AKI group and non-AKI group was 21.7％ and 8.8％ respectively (P ＞ 0.05).After 1 years,the serum creatinine of the recipients in AKI group was significantly higher than that in non-AKI group [(134.9±63.4) μmol/L vs (106.6±28.2) μmol/L,P＜ 0.05],but the survival rates of recipients and grafts did no differ between the two groups (both P ＞ 0.05).Conclusions The donors combined with AKI do nothave a worse effect on the incidence of DGF,the 1-year survival rates of recipients and grafts after transplantation.So,the donors with AKI for transplantation can widen the origin of kidney grafts.

To study the genotype-phenotype and genetic characteristics of Kallmann syndrome. Five patients with Kallmann syndrome were enrolled. Clinical data collection, chromosome karyotyping, whole exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA) were used. All the five patients were males, aging from 2 months to 45 years old. Three of the five patients complained cryptorchidism, one complained gonadal dysgenesis, and one complained fasting hyperglycemia. The clinical feature was hypogonadotropic hypogonadism with anosmia, and all karyotype was 46 XY. Magnetic resonance imaging (MRI) showed undeveloped olfactory bulbs and tracts. Kallmann syndrome related gene novel variants were found in all the 5 patients. The hypoplasia of right kidney was found in a patient with c. 1795_1799del (p.Asn599Profs*66) of anosmin 1 (ANOS1) variant. Clinical heterogeneity and incomplete penetrance were seen in a patient with c. 2824A>G (p.Thr942Ala) of chromodomain helicase DNA binding protein 7 (CHD7). Besides, WES indicated a 109 bp-deletion on Xp22.31 (chrX: 8507699-8507804), which was the deletion of exon 10 on ANOS1 gene verified by MLPA. The deletion variant was inherited form his mother, and conformed to X-linked recessive inheritance. Kallmann syndrome is genetic and clinical heterogeneous. WES is helpful for early diagnosis. MLPA and genome copy number variation analysis (CNV) are also recommend if necessary.

Objective:To observe the changes of abdominal aortic calcification and biochemical indicators after parathyroidectomy (PTX) in the maintenance hemodialysis (MHD) patients with secondary hyperparathyroidism (SHPT).Methods:The MHD patients with SHPT who were followed up for 2 years were analyzed retrospectively and divided into PTX surgery group ( n=26) and non-surgery group ( n=18) according to whether they underwent PTX, and then the abdominal aortic calcification score (AACS), intact parathyroid hormone (iPTH), blood calcium and phosphorus after 2 years were observed in the two groups. The PTX surgery group was divided into advanced group and non-advanced group according to whether abdominal aortic calcification had progressed or not 2 years after the operation. Indicators such as age, dialysis age, iPTH, blood calcium, blood phosphorus, calcium and phosphorus product were compared between the two groups to analyze the possible factors related to the development of abdominal aortic calcification. Results:A total of 44 patients meeting the inclusion criteria were included, with 26 in the PTX surgery group and 18 in the non-surgery group. The baseline data of the PTX surgery group and the non-surgery group showed statistical difference in the age of dialysis ( P<0.05), but no statistical differences in gender, age and history of hypertension. Compared with preoperative indicators, postoperative iPTH, blood calcium and phosphorus significantly reduced (all P<0.05), and there was no significant difference in AACS. There were 8 cases (30.77%) of accelerating progress of calcification, 8 cases (30.77%) of improvement in calcification, 10 cases (38.46%) of calcification stability. After 2 years, iPTH value of non-advanced group was significantly lower than advanced group [(20.62±6.44) ng/L vs (132.72±76.83) ng/L], while the preoperative AACS progress was higher in non-advanced group [(13.11±2.71) vs (2.00±1.41)] (all P<0.05). In non-surgery group, AACS was significantly higher after 2 years [(10.44±1.65) vs (8.05±1.26)], blood phosphorus and the product of blood calcium and phosphorus significantly decreased (all P<0.05) , and the levels of iPTH and blood calcium did not significantly change. Pearson correlation analysis showed that the decreased value between preoperative AACS and 2-year postoperative AACS was positively correlated with the decreased value of iPTH ( r=0.534, P=0.012), blood calcium ( r=0.643, P=0.004), blood phosphorus ( r=0.897, P<0.001) and calcium-phosphorus product ( r=0.568, P=0.021) , and negatively correlated with preoperative AACS ( r=-0.647, P=0.014). Conclusions:Small sample data shows that PTX can correct parathyroid hormone, calcium and phosphorus for long term, and prevent abdominal aortic calcification progression, even reverse vascular calcification. Whether abdominal aortic calcification improves or not may be associated with the decrease of iPTH, calcium, phosphorus and the product of blood calcium and phosphorus.

Schizothorax argentatus that only distributes in the Ili River basin in Xinjiang is one of the rare and endangered species of schizothorax in China, thus has high scientific and economic values. In this study, the complete mitochondrial genome sequence of S. argenteus with a length of 16 580 bp was obtained by high-throughput sequencing. The gene compositions and arrangement were similar to those of typical vertebrates. It contained 13 protein-coding genes, 22 tRNA genes, 2 rRNA genes, and a non-coding region (D-loop). The nucleotide compositions were A (30.25%), G (17.28%), C (27.20%), and T (25.27%), respectively, showing obvious AT bias and anti-G bias. Among the tRNA genes, only tRNA-Ser^(GCU) could not form a typical cloverleaf structure due to the lack of dihydrouracil arm. The AT-skew and GC-skew values of the ND6 gene were fluctuating the most, suggesting that the gene may experience different selection and mutation pressures from other genes. The mitochondrial control region of S. argenteus contained three different domains, i.e., termination sequence region (ETAS), central conserved region (CSB-F, CSB-E, CSB-D, and CSB-B), and conserved sequence region (CSB1, CSB2, and CSB3). The conserved sequence fragment TT (AT) nGTG, which was ubiquitous in Cypriniformes, was identified at about 50 bp downstream CSB3. Phylogenetic relationships based on the complete mitochondrial genome sequence of 28 Schizothorax species showed that S. argenteus had differentiated earlier and had a distant relationship with other species, which may be closely related to the geographical location and the hydrological environment where it lives.
Animals ; Genome, Mitochondrial/genetics* ; Phylogeny ; Sequence Analysis, DNA ; Cyprinidae/genetics* ; RNA, Transfer/genetics* ; DNA, Mitochondrial/genetics* ; Genes, Mitochondrial