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.

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.

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.

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>

Cardiac magnetic resonance imaging of systemic amyloidosis patients with normal left ventricular ejection fraction: an initial study

The purpose of this study was to find whether Cardiac Magnetic Resonance [CMR] could assess the myocardial interstitium in patients suffering from systemic amyloidosis with normal left ventricular ejection fraction. Twenty Six patients in whom systemic amyloidosis was confirmed by kidney biopsy were investigated. Five patients with normal left ventricular ejection fraction were selected. The heart function of the patients was diagnosed by two-dimensional transthoracic echocardiography. The main MR sequences include an inversion recovery prepared echo planar imaging perfusion sequence, inversion recovery TrueFISP sequence [delayed enhancement] and TrueFISP cine sequence for heart function measurement [including ejection fraction [EF]], end diastolic volume [EDV], end systolic volume [ESV], stroke volume [SV] and cardiac output [CO]]. Perfusion defects were seen in three patients. In these patients, myocardial enhancement was visible on late gadolinium enhancement images. The enhancement pattern was diffuse in three patients and focal in two patients. Heart dysfunction was mild, as follows: EF normal [range, 56-75%; mean, 69.4%], ESV normal [range, 15.7-30.0; mean, 23.0], EDV decreased [range, 42.1-96.6; mean, 72.7], SV decreased [range, 23.7-68.6; mean, 49.6] and CO normal [range, 2.6-5.9; mean, 3.9]. Hematoxylin and eosin stain and Congo red stain demonstrated typical amyloid deposits. Amyloidosis was classified as amyloid light chain by kappa and lambda stain. Cardiac Magnetic Resonance could detect abnormal myocardial interstitium in systemic amyloidosis patients with normal left ventricular ejection fraction

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.

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.

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.