Genetic analysis of a child with atypical Hemolytic uremic syndrome and nephrotic-range proteinuria / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics and genetic etiology for a child with atypical Hemolytic uremic syndrome (aHUS) in conjunct with nephrotic level proteinuria.@*METHODS@#A child patient who had visited the Affiliated Hospital of Qingdao University on June 25, 2020 was selected as the study subject. Clinical data of the patient was collected. Whole exome sequencing (WES) was carried out for the child, and candidate variant was verified by Sanger sequencing of the child and his parents.@*RESULTS@#The child, an 8-month-old male, had presented mainly with edema, oliguria, hematuria, nephrotic level proteinuria, anemia, thrombocytopenia, increased creatinine and urea, hypercholesterolemia but normal complement levels. Genetic testing revealed that he has harbored compound heterozygous variants of the DGKE gene, namely c.12_18dupGAGGCGG (p.P7fs*37) and c.1042G>T (p.D348Y), which were respectively inherited from his father and mother. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variants were classified as likely pathogenic and variant of uncertain significance, respectively. By combining his clinical manifestations and results of genetic testing, the child was diagnosed with aHUS with nephrotic level proteinuria.@*CONCLUSION@#For infants and young children with aHUS in conjunct with nephrotic level proteinuria, variants of the DGKE gene should be screened. Above finding has expanded the mutational spectrum of the DGKE gene.

Clinical characteristics and gene analysis of a family with autosomal dominant Alport syndrome with the onset of nephrotic syndrome / 中华实用儿科临床杂志

The clinical characteristics, mutation analysis results, and family tree of a patient with autosomal dominant Alport syndrome (ADAS), who had nephrotic syndrome as the first manifestation were examined.The proband was a 11-month-old girl who presented with nephrotic syndromes and gross hematuria.During the treatment course, the patient had steroid resistance and a poor response to Cyclosporine and Cyclophosphamide pulse therapy.Renal biopsy was performed 2 years after disease onset.Under the light microscopy, glomerular segmental mesangio-proliferative lesions were observed.The staining of type Ⅳ collagen showed the loss of the α3 chain in the glomerular basement membrane (GBM) and tubular basement membrane, and α5 chain loss in GBM.Electron microscopy showed uneven thickness of GBM, with obviously delaminated and tearing dense basement membrane (BM) layer, showing a typical lace-like change.The segmental BM was loosened and widened.Her father did not develop microscopic hematuria until 10 years later, while her grandmother had asymptomatic hematuria and proteinuria when the proband was diagnosed.A new mutation in the COL4A4 gene was found in the proband, namely c. 1715delG (p.G572Vfs * 81). Her father and grandmother carried the same mutation, but her mother and sister did not have.The clinical manifestation of ADAS is clinically heterogeneous and its incidence may be higher than what we have expected.

Clinical effect of integrated traditional Chinese and Western medicine therapy in treatment of biliary ascariasis / 临床肝胆病杂志

Objective To investigate an effective method for the treatment of biliary ascariasis.Methods A retrospective analysis was performed for the clinical data of 32 patients with biliary ascariasis who were treated in The People's Hospital of Huangmei County from January 1994 to January 2014.All the patients were given spasmolysis,pain management,anti-infective therapy,traditional Chinese medicine syndrome differentiation-based treatment,Chinese materia medica for regulating qi and relieving pain,and ascariasis-relieving and parasite -expelling treatment.Patients were given surgical treatment due to poor response.Results Of all the 32 patients,5 (15.6％) had no response to the ascariasis-relieving treatment with Fructus Pruni Mume decoction and were given surgical treatment,and 27 (84.4％) were cured by Western medicine combined with Fructus Pruni Mume decoction.There were no complications such as acute pancreatitis,perfora tion of the gallbladder,and liver abscess.All the patients were treated with Fructus Pruni Mume decoction regularly after discharge and no patient experienced recurrence.Conclusion Integrated traditional Chinese and Western medicine therapy is effective,safe,and reliable in the treatment of biliary ascariasis and holds promise for clinical application.

Changes in skeletal metabolism of glucocorticoids-treated children with kidney diseases / 中华实用儿科临床杂志

Objective To understand the skeletal metabolism in glucocorticoids-treated children with kidney diseases and to evaluate the role of Alfacalcidol plus calcium supplements.Methods A retrospective self-controlled study was performed in children with kidney diseases,admitted to Department of Pediatrics,Peking University First Hospital from July 2012 to November 2014,and they conformed to the inclusion and exclusion criteria.Inclusion criteria:children with renal diseases were included when they were administered with glucocorticoids,Alfacalcidol and calcium at the enrollment and follow-up,whose proteinuria was in remission or improved on follow-up,and renal function defined by glomerular filtration rate was more than 80 mL/(min · 1.73 m2),and they were followed up for at least 3 months.Exclusion criteria:whereas on follow-up,children with renal diseases were excluded if glucocorticoids was discontinued,or the follow-up period was less than 3 months,and related parameters were not available at the initial and finial visit.Serum levels of calcium,phosphate,alkaline phosphatase,25-hydroxy-vitamin D (25-OH-VitD) were detected,and bone mineral density at the left radius and mid tibia was measured by using quantitative ultrasound at the initial and finial visit.The levels of calcium,phosphate,alkaline phosphatase,25-OH-VitD and bone mineral density were compared between the initial and finial visit.Results A total of 29 cases (23 male,6 female) were recruited.Their ages at study entry were 2.4 to 14.9 years.Underlying disorders were primary nephrotic syndrome(17 cases),IgA nephropathy (4 cases),lupus nephritis (3 cases),purpura nephritis (2 cases),acute glomerulonephritis (1 case),Sjogren's disease(1 case),and autoimmune disease(1 case).At the time of enrollment,the course of disease was 1 to 69 months (median course of disease was 8 months),the duration of using corticosteroid was 0-60 months (median duration was 5 months),and the follow-up time was 92-409 days.The serum calcium,alkaline phosphatase and 25-OH-VitD levels at finial visit[(2.29 ±0.11) mmol/L,(153.21 ±71.00) U/L,and (40.96 ± 11.40) nmol/L,respectively] were significantly higher as compared with those at initial visit [(2.17 ± 0.16) mmol/L,(114.10 ±64.48) U/L,and (31.64 ± 10.99) nmol/L,respectively],and the differences were significant (all P ＜ 0.01),whereas there was no significant difference in serum level of phosphorate between initial and finial visit[(1.45 ±0.25) mmol/L vs.(1.48 ± 0.25) mmol/L] (t =-0.452,P ＞ 0.05).Meanwhile,there was significant difference in serum level of albumin level between initial and finial visit [(31.41 ± 9.31) g/L vs.(42.09 ± 4.00) g/L,t =-3.670,P ＜ 0.001].Compared with baseline assessment,bone mineral density at the left radius and tibia improved or maintained in 24/29 patients,whereas that of 5/29 patients declined.However,compared with initial and finial visit of bone mineral density in all patients(0.09 ± 1.58 vs.0.22 ± 1.07 at the left radius;0.93 ± 1.13 vs.1.00 ± 1.35 at the mid tibia),there was no significant difference (all P ＞ 0.05).Conclusions Bone loss can be prevented by Alfacalcidol plus calcium supplement in glucocorticoids-treated children with kidney diseases.

Resting state functional connectivity analysis of the frontal lobe-amygdala in different age paragraph female patients with bipolar disorder / 中国神经精神疾病杂志

Objective To find frontal lobe-amygdala functional connections in different age paragraph female patients with bipolar disorder. Methods The FMRI date were acquired from 30 patients with bipolar disorder aged 13 to 25 years old and 30 age-and education level-and gender-matched health controls.FMRI was also conducted on 30 patients with bipolar disorder aged 26 to 45 years old and 30 age-and education level-and gender-matched health controls.The date was calculated by using MATLAB based DPARSF software. Results Compared with corresponding health controls, the lobe-amygdala functional connections significantly decreased in patients aged 13 to 25 years but remained unchanged in patients aged 26 to 45 years old. Conclusions The decrease in the frontal lobe-amygdala functional connections decreased in female patients aged 13 to 25 years old may be related to the underdevelopment in vulnerable immature brain.In contrast, the frontal lobe-amygdala functional connections in female patients aged 26 to 45 years old remain intact.

A resting-state functional magnetic resonance imagingstudy in first-episode drug-naive schizophrenia and offspring of schizophrenia patients / 中国神经精神疾病杂志

Objective To explore the similarities and differences in amplitude of low frequency fluctuation ( ALLF) between patients with first-episode drug-naive schizophrenia and offspring of schizophrenia patients.Methods ALFF values were estimated by measuring the Blood Oxygen Level-Dependent ( BOLD) signal using resting state function-al magnetic resonance imaging ( rs-fMRI) .The fMRI date were acquired from 23 patients with first-episode drug-naive schizophrenia (SZ), 25 offsprings of schizophrenia patients (OS) and 29 age -and gender -matched health controls ( HC) .The ALFF value of each subject was calculated by MATLAB-based DPARSF software.Results Compared with HC, the ALFF values of SZ and OS were significantly different in the left posterior part of the inferior temporal gyrus, left parahippocampal gyrus, left hippocampus, right postcentral gyrus and bilateral precuneus.The ALFF values were not signif-icantly different between these two groups in the aforementioned regions.Compared with OS and HC, the ALFF values of SZ were significantly different in the left anterior part of the inferior temporal gyrus, left temporal pole and bilateral calcarine cortex.But there was no significant difference between OS and HC.Conclusions The brain function is abnormal in pa-tients with early schizophrenia and offspring of schizophrenia patients.The significant difference of ALFF in the left posterior part of the inferior temporal gyrus, left parahippocampal gyrus, left hippocampus, right postcentral gyrus and bilateral pre-cuneus may suggest the heredodiathesis-related brain functional alterations.Significant difference of ALFF in the left ante-rior part of the inferior temporal gyrus and the left temporal pole bilateral calcarine cortex may suggest the disease-related brain alterations.

Gallbladder-preserving cholelithotomy by laparoscopy and cholangioscopy for cholecystolithiasis / 临床肝胆病杂志

ObjectiveTo investigate the method and efficacy of cholelithotomy by laparoscopy and cholangioscopy, a controversial therapy for cholecystolithiasis. MethodsForty-eight patients with cholecystolithiasis who were admitted to our hospital and treated with gallbladder-preserving cholelithotomy by laparoscopy and cholangioscopy from March 2012 to June 2013 were enrolled as subjects. ResultsAfter surgery, all patients recovered without complications. One patient had relapse of cholecystolithiasis at six months after surgery. One patient had gallbladder atrophy at one year after surgery. ConclusionGallbladder-preserving cholelithotomy by laparoscopy and cholangioscopy is a feasible and safe therapy for cholecystolithiasis. The therapy achieves satisfactory short-term outcomes. However, the long-term efficacy of this therapy needs further investigation.

Retrospective study of primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis in children / 中华儿科杂志

<p><b>OBJECTIVE</b>IgA nephropathy is the most common type of glomerulonephritis in the world. Its clinical and pathological manifestations vary. A few of the patients with IgA nephropathy present with rapidly progressive glomerulonephritis (RPGN) and/or crescent formation. Their conditions are serious and acute, but there are few reports on their characteristics, treatment and outcome. This study aimed to analyze the clinicalopathological features, treatment and prognosis of primary IgA nephropathy in children, to provide a reference for clinical diagnosis and treatment.</p><p><b>METHOD</b>A retrospective study was conducted in children with primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis admitted to our department from 2000 to 2014. The patients meeting the inclusion and exclusion criteria were included. Patients were divided into RPGN group and non-RPGN group according to the clinical manifestations, crescent formation group and non-crescent group, crescentic IgA nephropathy group and non-crescentic IgA nephropathy group according to renal biopsy. Their clinical manifestations and pathological features, treatment and prognosis were compared.</p><p><b>RESULT</b>A total of 265 patients were recruited, 10 patients (3.8%) had RPGN, 151 patients (57.0%) had crescent formation, 19 cases (7.2%) showed crescentic IgA nephropathy.Compared with non-RPGN group, RPGN group showed more gross hematuria, higher serum creatinine, lower creatinine clearance correction at biopsy and follow-up, and more crescentic IgA nephropathy (P<0.05). The percent of patients who received methylprednisolone pulse and blood purification therapy in RPGN group is higher than that of non-RPGN group (P<0.05). Compared with non-crescent group, crescent formation group showed more gross hematuria at biopsy and follow-up, higher serum creatinine at biopsy, lower creatinine clearance correction, more 24-hour urinary protein at biopsy and higher serum creatinine at follow-up (P<0.05). The percentage of patients received more methylprednisolone pulse, oral steroids, cyclophosphamide pulse in crescent formation group was higher than that of non-crescent group (P<0.05). Compared with non-crescentic IgA nephropathy group, crescentic IgA nephropathy group showed more RPGN percent, higher serum creatinine, more 24-hour urinary protein at biopsy (P<0.05). The percentage of patients who received more methylprednisolone pulse and blood purification therapy in crescentic IgA nephropathy group was more than non-crescentic IgA nephropathy group (P<0.05). At follow-up, 20.0% of the patients with RPGN and crescent nephritis returned to normal renal function and the percent of crescent glomerulonephritis but not RPGN was 71.4%, RPGN but not crescent glomerulonephritis was 80.0%, crescent formation but not crescent nephritis was 87.5%.</p><p><b>CONCLUSION</b>In primary IgA nephropathy with crescent formation and/or rapidly progressive glomerulonephritis, the patients with both RPGN and crescentic IgA nephropathy showed the worst clinical manifestations, its prognosis was worst while the patients with crescent formation showed the mildest clinical manifestations and best prognosis.</p>

Nonvolatile chemical constituents from Pogostemon cablin / 中国中药杂志

<p><b>OBJECTIVE</b>To investigate the nonvolatile chemical constituents from the ethanol extract of the stems of Pogostemon cablin.</p><p><b>METHOD</b>The constituents were isolated and purified by repeated column chromatography on silica gel and Sephadex LH-20. Their structures were identified by physicochemical properties and spectroscopic analysis.</p><p><b>RESULT</b>Twelve compounds were isolated and identified as tilianin (1), diosmetin-7-O-beta-D-glucopyranoside (2), 3"-O-methylcrenatoside (3), uracil (4), soya-cerebroside I and II (5), agastachoside (6), apigenin-7-O-(3", 6"-di-(E) -p-coumaroyl) -beta-D-galactopyranoside (7), 5-hydroxy-3, 3', 4', 7- tetramethoxy flavone (8), 4', 5-dihydroxy-3, 3', 7-trimethoxyflavone (9), acacetin (10), crenatoside (11), isocrenatoside (12).</p><p><b>CONCLUSION</b>Compounds 1, 2, 4-7, 10 were isolated from the genus Pogostemon for the first time.</p>

The association between blood pressure variability and left ventricular hypertrophy in elderly isolated systolic hypertension / 中国综合临床

Objective To study the association between blood pressure variability and left ventricular hypertrophy in elderly isolated systolic hypertension.Methods Active blood pressure was applied to measure average BP,24 hour daytime and night BP variability,meanwhile,left ventricular interior diameter,the thickness of interventricular septum and left ventricular posterior were taken using echocardiagram so as to measure left ventricular weight( LVW) and left ventricular weight index (LVMI) in 31 elderly isolated systolic hypertension and 24 controls.Results BP variability, LVM and LVMI in 31 cases were higher than that of 24 controls.Conclusion BP variability and average BP are related to LVH.