Discovery of a Chinese Tibetan patient with lipoprotein glomerulopathy due to APOE Osaka/Kurashiki variant / 中华医学遗传学杂志

OBJECTIVE@#To detect variant of APOE gene in a Chinese Tibetan patient with lipoprotein glomerulopathy (LPG) confirmed by renal biopsy and to explore its pathogenesis.@*METHODS@#Clinical and pathological data was collected. DNA was extracted from peripheral blood sample of the patient and subjected to PCR and Sanger sequencing. Pathogenicity of the variant was analyzed by bioinformatics software.@*RESULTS@#Renal biopsy of the patient has confirmed the diagnosis of LPG. DNA sequencing suggested that the patient has carried a heterozygous c.527G>C (p.R176P) variant of the APOE gene (APOE Osaka/Kurashiki). Four cases of LPG have been found to carry the same variant, and the encoded amino acid (p.176R) is highly conserved during evolution. Bioinformatic analysis using SIFT, PolyPhen2 and PANTHER software all predicted the variant to be pathogenic.@*CONCLUSION@#The discovery of author's patient provided further evidence for the pathogenicity of APOE Osaka/Kurashiki and, more importantly, provide new evidence for the multiracial origin of LPG-related APOE variants.

Study of a family affected with focal segmental glomerulosclerosis due to mutation of COL4A5 gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the clinicopathologic features and genetic mutation in a patient diagnosed with focal segmental glomerulosclerosis (FSGS).</p><p><b>METHODS</b>Clinicopathologic data of the patient, who was diagnosed with primary FSGS by renal biopsy, was collected. Mutations of FSGS-related genes were screened with next-generation sequencing. Suspected pathogenic mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next-generation sequencing detected a missense mutation (c.2215C to G, p.P739A) in exon 28 of the COL4A5 gene in the patient. The same mutation was also detected in his mother who was asymptomatic. Another missense mutation (c.2215C to T, p.P739S) in the same codon has been related with Alport syndrome.</p><p><b>CONCLUSION</b>The c.2215C to G (p.P739A) mutation may be one of pathogenic mutations underlying FSGS. This has provided further evidence for the phenotypic heterogeneity of COL4A5 gene mutations.</p>

Study on maternal serum total bile acids in intrahepatic cholestasis of pregnancy on neonatal lung injury / 重庆医学

Objective To explore the correlation between maternal serum total bile acid (TBA) of pregnant women with intrahepatic cholestasis of pregnancy (ICP) and varying degrees of neonatal lung injury.Methods A total of 52 cases of pregnant women with ICP and their corresponding newborns were enrolled into the ICP group from March 2014 to December 2015 in the People's Hospital of Shapingba District.Other 52 cases of pregnant women received cesarean delivery whose gestational age and birth weight of newborns were close to the ICP group and their corresponding newborns were selected as the control group.The conditions of neonatal lung injury were recorded,and the correlations of maternal serum level of TBA and exposure time of high serum level of TBA to degrees of lung injury were analyzed as well.Results The incidence rate of neonatal lung injury in the ICP group (67.3 ％) was higher than that in the control group (17.3 ％),there was statistically significant difference (P＜0.05).The degree of lung injury was positively correlated with maternal serum level of TBA and exposure time of high serum level of TBA (r=0.687,P=0.000;r=0.523,P=0.001).Conclusion The probability of neonatal lung injury of corresponding pregnant women with ICP is significantly increased,and the extent of lung injury is positively correlated with concentration of maternal serum TBA and exposure time of high serum level of TBA.

A retrospective study of serum albumin in assessing the condition and prognosis of very low birth weight / 重庆医学

Objective To explore the assessment value of serum albumin(ALB) to the severity and prognosis of very low birth weight(VLBW).Methods The quality of birth weight,gestational age,serum albumin,critically ill scores and prognosis were analyzed retrospectively from October 2015 to September 2016 in this hospital.Results The mean birth weight was(1.32±0.15) kg,the overall survival rate was 80.21 ％ and the serum albumin was (27.39±3.80)g/L in 96 cases of patients.The occurrence rate of neonatal respiratory distress syndrome,sepsis,mechanical ventilation and critical cases were higher in albumin＜28 g/L group than that of albumin≥28 g/L group,and the survival rate was lower,the difference were statistically significant(P＜0.05).The area under ROC curve(AUC)showed that ALB and neonatal critical illness score(NCIS) had a predictive value for the survival of VLBW(AUC=0.848,0.917,P＜0.5),but the predicted value of ALB was less than NCIS.According to Logistic analysis,ALB was the risk factors for survival rate in VLBW.Conclusion Serum ALB has a certain predictive value for the severity and prognosis of VLBW,but subgroups of NCIS.

Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome.

Increasing evidence has demonstrated that lung fluid absorption disorders might be an important cause of neonatal respiratory distress syndrome (RDS) by influencing gas exchange or surfactant function. The SCNN1A gene, which encodes the α-ENaC, might predispose infants to RDS. To explore whether the single-nucleotide polymorphisms (SNPs) of SCNN1A are associated with RDS, we conducted a case-control study to investigate the RDS-associated loci in Han Chinese infants. Seven target SNPs were selected from the SCNN1A gene and were genotyped using the improved multiplex ligase detection reaction (iMLDR). In the total sample, only rs4149570 was associated with NRDS; this association was further confirmed in logistic regression analysis after adjusting for birth weight, gestational age and sex. In the subgroup of infants whose gestational age was 37 weeks and older, in addition to rs4149570, rs7956915 also showed a significant association with RDS. Interestingly, these associations were only observed in term infants. No significant association was observed between the target SNPs and the risk of RDS in preterm infants. We report for the first time that the rs4149570 and rs7956915 polymorphisms of SCNN1A might play important roles in the susceptibility to RDS, particularly in term infants.

Nasal intermittent positive pressure ventilation versus nasal continuous positive airway pressure for preterm infants with respiratory distress syndrome: a meta-analysis and up-date.

OBJECTIVE: To evaluate whether nasal intermittent positive pressure ventilation (NIPPV) would decrease the requirement for endotracheal ventilation compared with nasal continuous positive airway pressure(NCPAP) for preterm infants with respiratory distress syndrome (RDS) and compare the related complications between these two noninvasive variations of respiratory support METHODS: A search of major electronic databases, including Medline (1980-2013) and the Cochrane Central Register of Controlled Trials, for randomized controlled trials that compared NIPPV versus NCPAP for preterm infants with RDS was performed. MAIN RESULTS: Six randomized controlled trials met selection criteria (n = 1,527). The meta-analyses demonstrated significant decrease in the need for invasive ventilation in the NIPPV group (RR:0.53; 95% CI, 0.33-0.85). In the subgroup of infants who received surfactant also demonstrated a significant rate of failure of nasal support in the NIPPV group (RR:0.57; 95% CI 0.42-0.78). However, the subgroup of infants whose gestational age (GA) ≤ 30 weeks or birth weight (BW) < 1,500 g showed no difference between the two groups (RR:0.59; 95% CI 0.27-1.26); and the subgroup of infants whose GA > 30 weeks or BW > 1,500 g also showed no difference between the two groups (RR:0.63; 95% CI 0.29-1.39). No differences in other outcome variables were observed between the two groups. CONCLUSIONS: Among preterm infants with RDS, there was a significant decrease in the need for invasive ventilation in the NIPPV group as compared with NCPAP group, especially for the infants who received surfactant. However, NIPPV could not decrease the need for invasive ventilation both in the subgroup of infants whose GA ≤ 30 weeks or BW < 1,500 g and the subgroup of infants with BW of >30 weeks or BW > 1,500 g. It is limited to analysis the primary outcome generally. Larger trials of this intervention are needed to assess the difference in this primary outcome and the related complications between both forms of noninvasive respiratory support.

Glycochenodeoxycholate induces rat alveolar epithelial type II cell death and inhibits surfactant secretion in vitro.

Bile acid-induced lung injury has become an important topic for neonatologists after the discovery of a high incidence of infant respiratory distress syndrome complicated from maternal intrahepatic cholestasis. To explore the molecular pathway of bile acid-induced lung injury, we investigated the cytotoxicity of the glycochenodeoxycholate (GCDC) to alveolar epithelial type II cells (AECII), as the main component of bile acid. The results demonstrated that glycochenodeoxycholate induced oxidative stress, mitochondrial damage, and increased caspase activity in the primary cultured AECII. Moreover, ROS scavengers and caspase inhibitors could rescue cell death induced by GCDC in rat AECII. Our results also indicated that GCDC inhibited AECII surfactant secretion. In conclusion, this study suggested that cell death prevention and cell therapy should be considered as therapeutic strategies for infant respiratory distress syndrome complicated from maternal intrahepatic cholestasis.

A randomized controlled trial on the heparin lock concentration of hemodialysis intra-jugular vein dual lumen catheter / 中华肾脏病杂志

Objective To explore the effects of intra-jugular vein dual lumen catheter lock heparin in different concentrations on the coagulation function,hemorrhagic tendency and catheter thrombosis risk in hemodialysis patients,and to investigate the reasonable lock heparin cuncentration. Method Ninety end stage renal disease (ESRD)patients receiving regular hemodialysis were enrolled and randomly assigned into 3 groups(n=30):Group A(pure heparin lock solution,6250 U/m1),GrouP B(medium heparin lock solution,1040 U/ml)and Group C(low hepafin lock solution,625 U/ml).The coagulation indexes were determined in short term.Complications such as bleeding,thrombosis,infection and thrombocytopenia were monitored.Results Prothrombin time(PT),actiwtted partial thromboplastin time(APTT)and thrombin time (TT)were significantly prolonged in Group A(P＜0.01);only APTT was signifieanlly prolonged in Group B:however,no significant changes were observed in Group C.Hemorrhage risk was much higher in Group A than that in Group B and C (26.7%vs 10%and 0.P＜0.05).Catheter thrombosis incidence was significantly higher in Group C than that in Group A and B(23.3%vs 0and 10%,P＜0.05).Only 1 suspected catheter related infection was found in Group C,and 2cases of moderated thrombocytopenia in Group A. Concltrsion Moderate concentration of lock heparin solution has the best balance of hemorrhagic and thrombotic risk,and should be recommended to most of regular hemodialysis patients.

Multi-disciplinary collaboration in management of acute kidney injury caused by crush syndrome after earthquake / 中华内科杂志

On May 12,2008,a disastrous earthquake scaled 8.0 Richter hit Wenchuan,Sichuan province in China.Treating the acute kidney injury caused by crush syndrome in survivals of the earthquake has been a big challenge to the nephrologists.In this paper,we shared our experiences on the multi-disciplinary collaboration in management of acute kidney injury caused by crush syndrome.In addition to surgical therapy for crush injury and compartment syndrome and the renal replacement therapy for acute renal injury and its related complications,the early multi-disciplinary collaboration including rehabilitation,mental health care,infection control and ICU also contributed greatly to the successful treatment of the victims of the earthquake.

Clinical characteristics of 31 patients with ANCA-associated vasculitis / 中国实用内科杂志

Objective To investigate the clinical characteristics of 31 patients suffering from ANCA associated vasculitis(AAV).Methods The clinical data of 31 patients with ANCA positive profiles diagnosed as AAV were analyzed,including ANCA spectrum,renal and other organs' clinical features.Results There were 16 males and 15 females,average admission age(54.19?20.00)years(18 to 84 years).Totally 27 MPA and 4 WG were diagnosed;onset symptoms of renal involvement were in 15 cases and others in 16 cases;18 patients had respiratory system involvements including 8 cases with pulmonary hemorrhage.In admission 27 MPA patients with average SCr(460.42?354.55)?mol/L,and WG group with(659.62?535.1)?mol/L.ANCA spectrum showed 24 P-ANCA cases and 7 C-ANCA cases,while ELISA method showed 25 anti-MPO cases and 6 anti-PR3 cases.Conclusion AAV has many kinds of manifestations and progresses in many variable ways.Kidney and respiratory system are most vulnerable in AAV.The treatment is very limited in advanced stage of AAV.The key to improving the outcome of AAV is early detection of ANCA and early diagnosis.

Clinical analysis on 90 cases of Henoch-Schonlein purpura nephritis / 重庆医科大学学报

Objective: To analyze the clinical characteristics of Henoch-Schonlein purpura nephritis(HSPN).Methods: The clinical data of 90 HSPN patients were analyzed.Results: The patients with proteinuria over 1 gram per day and those with nephritic proteinuria accounted for 64.44% and 27.78%,respectively.Persistent gross hematuria often accompanied severe proteinuria even nephritic syndrome.Leucocyturia prevalence increased while the proteinuria became severe.Conclusion: Adolescent and adult HSPN have many clinical presentations with high index of gastral bleeding.The clinical presentations are getting worse with the increasing profile of proteinuria.Persistent gross hematuria and leucocyturia may reflect the severity and activity of HSPN.