ABSTRACT
Objective:To analyze the efficacy and safety of dapagliflozin combined with metformin in the treatment of type 2 diabetes.Methods:A prospective research method was adopted. A total of 60 patients with type 2 diabetes who were treated in Huainan Chaoyang Hospital from January 2019 to December 2021 were collected as research objects, and the above patients were divided into the observation group (30 cases) and the control group (30 cases) according to the random number table method. After admission, they were treated with oral metformin sustained-release tablets combined with exercise and diet control. On this basis, the observation group was treated with dapagliflozin, while the control group was treated with glimepiride. The blood glucose-related indexes after 3 months of treatment, blood lipid indexes after 1 month of treatment, and adverse reactions were compared between the two groups of patients.Results:After 3 months of treatment, the fasting blood glucose (FBG), 2 h postprandial blood glucose (2 h PBG) and glycosylated hemoglobin (HbA 1c) of the two groups were significantly lower than those before treatment, observation group: (6.60 ± 1.01) mmol/L vs. (7.76 ± 1.82) mmol/L, (10.43 ± 2.74) mmol/L vs. (14.05 ± 3.84) mmol/L, (5.90 ± 1.56)% vs. (8.46 ± 2.07)%; control group: (6.77 ± 0.95) mmol/L vs. (7.82 ± 1.38) mmol/L, (10.17 ± 2.23) mmol/L vs. (14.01 ± 2.63) mmol/L, (6.14 ± 1.51)% vs. (8.73 ± 1.58)% ( P<0.05), but there was no difference in FBG, 2 h PBG and HbA 1c between the two groups ( P>0.05). The total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) in the observation group were significantly lower than those in the control group: (5.02 ± 0.98) mmol/L vs. (5.71 ± 0.77) mmol/L, (2.81 ± 0.69) mmol/L vs. (3.39 ± 0.87) mmol/L ( P<0.05). There was no difference in adverse reactions ( P>0.05). Conclusions:For patients with type 2 diabetes mellitus, on the basis of metformin sustained-release therapy, whether combined with dapagliflozin or glimepiride therapy has good hypoglycemic effect, but dapagliflozin has more advantages in improving blood lipids.
ABSTRACT
Objective:To summarize the clinical data of anti-factor H antibody-associated atypical hemolytic uremic syndrome (aHUS) in children, and analyze the risk factors for disease recurrence and poor prognosis.Methods:A prospective cohort study was conducted on 52 children with anti-factor H antibody-associated aHUS in Beijing Children′s Hospital, Capital Medical University from November 2011 to November 2021.Patient information about the genetic background, clinical and renal pathological characteristics, treatment, and prognosis were collected.Then, the disease recurrence and prognosis were analyzed using the survival curve and Cox regression model. Results:In 52 children, there were 33 males and 19 females.The average age of onset for aHUS was 2.4-12.8 years, and 92.3%(48/52) of the children developed symptoms at the age of 4-12 years.The copy numbers of complement factor-H-related 1 (CFHR1) and complement factor-H-related 3 (CFHR3) genes were calculated in 42 children.Among the 42 cases, 18 cases (42.9%) had CFHR1 homozygous deletion, and 83.3% (15/18) of them also had CFHR3 homozygous deletion.All the patients were given plasma therapy.Besides, 76.9% (40/52) of the children were treated with immunosuppressive therapy (steroid and/or immunosuppressant) at the first onset of the disease.About 86.5%(45/52 cases) of the patients received immunosuppressive therapy in the course of disease, and the immunosuppressive treatment lasted for 6-20 months in total.The median follow-up time was 58 (28, 91) months.Among 52 patients, only 12 patients (23.1%) suffered disease recurrence.The relapse-free survival rate in children with CFHR1 homozygous deletion was significantly lower than that in children with non-homozygous deletion ( χ2=4.700, P=0.030). The relapse-free survival rate in children with CFHR1 and CFHR3 homozygous deletions was also significantly lower than that in other children ( χ2=4.181, P=0.041). At the end of the follow-up, 73.1%(38/52) of the children had normal renal function and no persistent proteinuria or hypertension.23.1%(12/52 cases) of the children had persistent proteinuria and/or hypertension.One child had Stage 3-4 chronic kidney disease, and 1 child was dialysis dependent. Conclusions:Anti-factor H antibody-associated aHUS is prone to occur in children aged between 4-12 years old, who respond well to plasma therapy and immunosuppressive therapy.Children with anti-factor H antibody-associated aHUS and CFHR1 and CFHR3 homozygous deletions have a high recurrence rate.Treatment with immunosuppressive therapy and assessment of the copy number of CFHR1 and CFHR3 genes in the early stage of the disease are important for preventing disease recurrence and improving prognosis.
ABSTRACT
Atypical hemolytic uremic syndrome (aHUS) is a rare acute and critical disease in childhood, which is easy to lead to acute kidney injury, and has a high mortality rate and chronic kidney disease incidence if not diagnosed and treated in time.According to the etiology, aHUS can be classified into hereditary and acquired.Anti-factor H antibody associated aHUS is acquired and mainly occurs in children aged 5 to 15 years.Anti-factor H antibody associated aHUS is strongly associated with homozygous deletion of the complement H related protein 1/3 (CFRH1/3) gene.In recent years, there have been significant advances in the etiology, genetics, and immunology of aHUS, especially the treatment of Eculizumab, which has greatly improved the prognosis of the disease.However, at present, there are still problems that need to be solved in the pathogenesis, diagnosis, treatment and prognosis of antibody-related aHUS, and this article will discuss the above content and put forward corresponding prospects to provide reference for clinical and scientific research.
ABSTRACT
Objective:To select human chronic myeloid leukemia (CML) cell line K562 as the experimental object, and use lentivirus mediated CRISPR/Cas9 gene editing technology to construct a stable CML cell line K562/TCRP1-KO that knocks out the tongue cancer resistance related protein 1 (TCRP1) gene; and through functional tests such as cell proliferation, apoptosis, and drug sensitivity, compare the phenotypic differences between K562/TCRP1-KO and control cells (K562/cas9-CTL), and preliminarily explore the possible mechanism of TCRP1 gene involvement in the pathogenesis of CML.Methods:The small guide RNA (sgRNA) targeting TCRP1 was designed at a specific location. After annealing, the oligonucleotide fragments were recombined with the linearized Cas9 expression vector, and the lentivirus packaging system was transfected into 293T cells. The purified virus was collected and infected with K562 cells. Positive polyclons were screened for puromycin pressure, and monoclonal K562/TCRP1-KO was further screened by limited dilution method. Stable cell lines were successfully knocked out by sanger sequencing and Western blot detection; Simultaneously, K562 cells transfected with lentiCRISPR vector were constructed as control cell lines (K562/cas9-CTL); Using cell counting method, cell counting kit 8 (CCK8) method, imatinib (IM) gradient dilution method, and flow cytometry cell proliferation, drug sensitivity, and apoptosis analysis were performed on K562/TCRP1-KO and K562/cas9-CTL, respectively.Results:The sgRNA-Cas9 recombinant plasmid vector for TCRP1 knockout was successfully constructed, and after transfection into 293T cells, TCRP1 knockout monoclonal cell lines were successfully screened using limited dilution method. Compared with K562/cas9-CTL cells, the proliferation ability of K562/TCRP1-KO cells was significantly reduced, IM drug sensitivity was significantly enhanced, and the process of cell apoptosis was significantly accelerated (all P<0.05). Conclusions:A CML cell line with TCRP1 knockout was successfully constructed using CRISPR/Cas9. TCRP1 may act as a cancer related gene to affect the proliferation, IM resistance, and apoptosis process of CML cells.
ABSTRACT
Objective:To explore the application of typical tasks-based mind mapping in nursing teaching for children with autism spectrum disorder (ASD).Methods:A total of 102 nursing students who were involved in the nursing of children with ASD in Hunan Children's Hospital were selected and divided into control group and observation group according to the teaching methods. Fifty-one students in the control group were provided with conventional teaching, while 51 students in the observation group were provided with typical tasks-based mind mapping teaching. The students in the two groups were assessed for performance, self-directed learning ability score, and overall literacy at completion of the nursing course. SPSS 22.0 was used for the t test. Results:The scores of theoretical examination[(92.34±4.07) vs. (89.92±3.61)], nursing note writing[(91.07±3.84) vs. (88.60±3.59)], and operational examination[(90.47±2.98) vs. (88.52±2.73)] were significantly higher among students in the observation group than among those in the control group ( P<0.05); after the internship, students in the two groups had significantly increased scores in interpersonal relationships, learning awareness, learning strategies, learning behaviors, and learning evaluation, and the observation group had better performance than the control group in the above indices ( P<0.05); after the internship, students in the two groups had significantly increased scores in problem solving, interpersonal communication, critical thinking, and self-leadership, and the observation group had better performance than the control group in the above indices ( P<0.05). Conclusion:The application of typical tasks-based mind mapping in nursing teaching for children with ASD can improve nursing students' academic performance, enhance their self-directed learning, and improve their overall literacy.
ABSTRACT
Objective:To investigate the status quo of hemoglobin a1c (HbA1c) in community-dwelling patients with type 2 diabetes mellitus and its relationship with health literacy, and analyze the factors that affect HbA1c level.Methods:A total of 134 patients with T2DM who received treatment in Hbxi Hospital Affiliated to Jining Medical University (Shanxian Central Hospital) from February 2019 to February 2020 were included in this study. All patients were divided into standard group (HBA1c < 7%, n = 61) and substandard group (HbA1c ≥ 7%, n = 73) according to HbA1c level. Fasting elbow venous blood was collected to measure relevant biochemical indexes. General data were collected from patients in the two groups. The Chinese Citizen Health Literacy Questionnaire was used to evaluate the health literacy level in patients from the two groups. Results:Serum levels of creatinine, blood uric acid and blood urea nitrogen in the substandard group were significantly higher than those in the standard group (all P < 0.05). Health literacy score in the substandard group was significantly lower than that in the standard group ( P < 0.05). The percentage of patients who smoked or had relevant complications among all included patients in the substandard group was 17.81% and 16.44%, respectively, which were significantly higher than 3.28% and 4.92%,respectively, in the standard group ( χ2 = 7.05, 4.43, both P < 0.05). The percentage of patients who had regular glucose level among all included patients in the substandard group was significantly lower than that in the standard group (63.93% vs. 80.82%, χ2 = 4.82, P < 0.05). Pearson analysis results showed that HbA1c level was significantly negatively correlated with health literacy score, with the correlation coefficient r of -0.80. Logistic regression model results showed that serum levels of creatinine and blood uric acid were independent risk factors for substandard level of HbA1c, with an OR value of 3.81 (95% CI: 1.60-9.09) and 1.03 (95% CI:1.01-1.06), respectively. Health literacy score was a protective factor for substandard level of HbA1c, with an OR value of 0.23 (95% CI: 0.10-0.54). Conclusion:Less than 50% of community-dwelling patients have standard HbA1c levels. Health literacy score is remarkably negatively correlated with HbA1c level. Health literacy score is a protective factor for HbA1c level, while serum creatinine and blood uric acid are independent risk factors for substandard HbA1c.
ABSTRACT
Objective:To investigate the clinical features of acute post-streptococcal glomerulonephritis (APSGN) and C 3 glomerulopathy (C 3G) in children, and to improve the understanding, diagnosis and treatment of C 3G in children with atypical APSGN. Methods:The clinical data of 100 children whose were clinically diagnosed with APSGN and admitted to the Beijing Children′s Hospital, Capital Medical University from January 2016 to December 2021 were collected and retrospectively analyzed.Seventy-three cases finally diagnosed with APSGN were included in the APSGN group and 27 cases with C 3G were classified into the C 3G group.The clinical manifestations, laboratory results, treatment and prognosis of the 2 groups of children were analyzed and compared by the t-test, Mann-Whitney U test and χ2 test. Results:Both APSGN and C 3G patients had a history of streptococcal infection at the early stage of the disease.There was no significant difference in the onset age and gender between the 2 groups (all P>0.05). The clinical manifestations of APSGN and C 3G at the early stage are sometimes difficult to distinguish.However, the incidence rates of gross hematuria (92.6%) and nephrotic proteinuria (66.7%) in the C 3G group were higher than those in the APSGN group (69.8%, 30.1%) ( χ2=5.583, 10.960; all P<0.05). The laboratory test results suggested that compared with the C 3G group, the APSGN group had higher albumin levels [(36.3±7.4) g/L vs.(28.9±6.8) g/L], but lower triglycerides [(1.2±0.6) mmol/L vs.(1.6±0.7) mmol/L], blood urea [(7.6±5.6) mmol/L vs.(14.7±16.3) mmol/L], blood creatinine [(66.2±45.2) μmol/L vs.(120.1±170.3) μmol/L], and urine protein levels [(43.5±58.5) g/24 h vs.(319.2±994.8) g/24 h] ( t=4.655, 2.738, 2.241, 1.624, 1.448; all P<0.05). As for treatment, the use rates of hormones and other immunosuppressants in the C 3G group were higher than those in the APSGN group (59.3% vs.12.3%, 29.6% vs.1.4%) ( χ2=23.15, 19.22; all P<0.05). The follow-up data revealed that compared with the APSGN group, the C 3G group took a longer time for gross hematuria and microscopic hematuria symptoms to disappear, proteinuria test to turn negative and complement C 3 to recover [51.1(14.3, 90.0) d vs.14.9(6.0, 15.5) d; 218.3(60.0, 277.5) d vs.65.5(27.0, 82.5) d; 127.9(60.0, 180.0) d vs.38.2(13.0, 53.6) d; 129.3(55.5, 225.0) d vs.39.1(24.0, 51.0) d] ( U=2.395, 2.730, 2.890, 3.054; all P<0.05). Conclusions:APSGN children with relatively severe clinical manifestations during the acute stage, especially with unrelieved nephrotic proteinuria, should be highly suspected with C 3G.Such patients should be treated with steroids and undergo renal biopsy and complement investigation if necessary, so as to identify the cause early, adjust the treatment and improve their prognosis.
ABSTRACT
Group A Streptococcus (GAS) is a very important pathogen, especially for children.On a global scale, GAS is an important cause of morbidity and mortality.But the burden of disease caused by GAS is still unknown in China and also has not obtained enough attention.For this purpose, the expert consensus is comprehensively described in diagnosis, treatment and prevention of GAS diseases in children, covering related aspects of pneumology, infectiology, immunology, microbiology, cardiology, nephrology, critical care medicine and preventive medicine.Accordingly, the consensus document was intended to improve management strategies of GAS disease in Chinese children.
ABSTRACT
Optical coherence tomography angiography (OCTA) can be used to obtain retinal and choroidal blood flow images of optic disc and macular area, and evaluate the vascular morphology and blood perfusion of different layers in different areas of optic disc and macular area.It provides rich possibilities for the description and quantification of optic nerve diseases, the exploration of disease pathogenesis, and the development and evaluation of new treatments.In recent years, OCTA has played an important role in the diagnosis and treatment of optic nerve diseases.It is helpful in the diagnosis of optic neuritis, ischemic optic neuropathy, papilledema secondary to idiopathic intracranial hypertension, and to some extent to evaluate the visual function of affected eyes.The vascular morphology and quantitative analysis of the optic disc and macular area by OCTA may be of value in discriminating optic disc swelling from various etiologies and different types of anterior ischemic optic neuropathy, and facilitate further exploration of the pathogenesis of optic nerve diseases.This article reviewed the application status, recent progress and limitations of OCTA in the diagnosis, differential diagnosis and pathogenesis of optic nerve diseases.OCTA is still not in the stage of meaningful clinical use in neuro-ophthalmology, but its application can be wider as there are more meaningful researches and findings.
ABSTRACT
Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosylsphingosine (Lyso-GL-3) in multiple tissues of the body systems, eventually leading to lesions in multiple organs. The symptoms commonly seen in childhood include neuropathic pain, gastrointestinal dysfunction, angiokeratoma and cornea verticillata, and others. The fact that early symptoms are not specific usually causes the delay in diagnosis of Fabry disease. Making definite diagnosis needs to involve the activity of α-Gal A, GL-3, Lyso-GL-3, biomarkers, pathology and genetic tests. The early start of treatment using enzyme replacement therapy (ERT) is effective in alleviating the signs and symptoms of Fabry disease and in preventing disease progression.
ABSTRACT
This article reports a case of a child with full-length (paired box family, PAX) PAX2 mutation leading to renal coloboma syndrome. The patient is an 11-year-old boy presented with persistent foamy urine and unexplained renal failure. The boy has suffered from vision decline ever since infancy. Genetic testing confirms the mutation of the PAX2 splice site (c.862-1G > A). Sanger sequencing shows no mutation at this site in his parents and demonstrates a spontaneous mutation. His clinical manifestations also confirms diagnosis of renal coloboma syndrome. The PAX2 mutation was responsible for the boy's progression to end-stage renal disease and extrarenal manifestations.
ABSTRACT
Objective To explore the phenotype-genotype correlation of Alport syndrome in children. Methods Retrospectively analyze the clinical and pathological features of 55 patients with Alport syndrome with COL4A mutations detected by second-generation sequencing, who were treated at Beijing Children's Hospital from January 2016 to December 2020. Results A total of 55 children with Alport syndrome were included. All cases had hematuria, including 31 cases (56.4%) with gross hematuria and 24 cases (43.6%) with microscopic hematuria. A total of 39 (70.9%) patients also had proteinuria. Extrarenal manifestations were pres- ent in 12 patients (21.8%). 36(65.4%) patients had a family history of Alport syndrome. 32 patients underwent pathological examination and 23 of them had the specific pathological changes of Alport syndrome. In 55 cases, 36 (65.4%) were diagnosed as X-linked Alport syndrome, 5(9.1%) were diagnosed as autosomal recessive Alport syndrome, 10(18.2%) were diagnosed as autosomal dominate Alport syndrome, and 4(7.3%) were diagnosed as digenic Alport syndrome. Missense mutations in COL4A genes accounted for 62.5%, 67.5% of missense mutations resulted in glycine substitution. There were statistical significances in proteinuria degree and hearing loss between male and female patients with XLAS (P < 0.05) as well as statistical significance in the degree of proteinuria between autosomal recessive Alport syndrome and autosomal dominate Alport syndrome (P=0.044), and there was critical statistical significance in the age of onset. There was statistical significance in hearing loss between children with renal impairment and children with normal renal function (P=0.001). Conclusions Most of the pathogenic variants in COL4A genes that cause Alport syndrome result in glycine substitutions. The degree of proteinuria and hearing loss of males with XLAS were greater than those of females. The degree of proteinuria in autosomal recessive Alport syndrome was greater than that of children with autosomal dominate Alport syndrome, and the age of onset was earlier than that of autosomal dominate Alport syndrome. Renal manifestation was more severe in children with hearing loss. The early clinical manifestations of Alport syndrome are diverse and pathological manifestations may be atypical. The application of next-generation sequencing can reduce misdiagnosises of Alport syndrome.
ABSTRACT
Objective:To evaluate the discrimination, reliability and validity of the evaluation system of clinical nurse training based on post competency in hospitals of traditional Chinese and Western medicine.Methods:From August 2018 to January 2019, 271 clinical nurses from a three-A hospital were selected by convenient sampling method. The competency of clinical nurses was assessed on the spot by case tracking method. The discrimination, reliability and validity of the evaluation system were tested by item analysis, Cronbach's α coefficient and confirmatory factor analysis.Results:The evaluation system had good discrimination, reliability and validity. Among the four scales of the evaluation system, there were significant differences in the high score and the low score of all items ( P < 0.05). The Cronbach's α coefficient of each dimension of the four scales was 0.769-0.898. Four structural equation model diagrams were established, the AVE (average variance extracted) of each dimension was 0.51-0.74, factor load was 0.53-0.93, C.R. (composite reliability) was 0.79-0.91, and the discrimination validity was up to the standard. Conclusion:This system provides a reference for the establishment of scientific, objective, measurable and homogeneous clinical nurse training evaluation tools.
ABSTRACT
Objective:To explore the clinical characteristics of chronic kidney disease (CKD) at the stage 3-5D in children with renal anemia, and provide reference data for standardized diagnosis and treatment.Methods:A single-center retrospective study was conducted to collect clinical data in children with CKD at Beijing Children's Hospital Affiliated to Capital Medical University from January 2016 to December 2018. The patients were divided into CKD stage 3 group, stage 4 group and stage 5 group according to estimated glomerular filtration rate. The indexes of anemia among the groups were compared. Data on anemia indicators, treatment, and anemia improvement in maintenance dialysis children at stage 5D were analyzed.Results:A total of 171 children with CKD were included in the study. The hemoglobin levels in CKD stage 3 group, stage 4 group and stage 5 group were (126.4±20.5) g/L, (90.8±26.0) g/L and (78.7±18.4) g/L, respectively, and there was a statistical difference among the groups ( χ2=61.982, P<0.001; trend test F=71.061, P<0.001). The incidences of anemia in children with CKD stage 3, stage 4 and stage 5 were 27.3% (9/33), 83.3% (25/30) and 95.4% (105/108), respectively. Mild, moderate and severe anemia in children with CKD stage 3 accounted for 15.2%(5/33), 12.1% (4/33) and 0(0), respectively. Mild, moderate and severe anemia in children with CKD stage 4 accounted for 26.7% (8/30), 50.0% (15/30) and 6.7% (2/30), respectively. Mild, moderate and severe anemia in children with CKD stage 5 accounted for 21.3%(23/108), 60.2%(65/108) and 15.8%(17/108), respectively. Anemia type was mostly normocytic anemia. The hemoglobin of 30 children with CKD stage 5D at the initial stage of dialysis was (79.3±16.3) g/L. Twenty-three children with CKD stage 5D received erythropoietin combined with oral iron or intravenous iron therapy. The hemoglobin compliance rates in children with maintenance dialysis in initial phase, 1 month, 2 months and 3 months were 6.7% (2/30), 16.7%(5/30), 63.3%(19/30) and 90.0%(27/30), respectively. The correction time for anemia was (2.5±1.0) months. Twelve children with CKD stage 5D received iron sucrose infusion, and no adverse reaction occurred. Conclusions:Renal anemia has a high incidence in children with CKD. Early and standardized treatment is of great significance to improve outcome of renal anemia. Venous iron infusion is a safe and effective treatment method for children with maintenance dialysis.
ABSTRACT
Objective:To understand clinical characteristics, treatment effects and prognosis of children with methylmalonic acidemia (MMA) presented with hemolytic uremic syndrome(HUS).Methods:The medical records of children with MMA were collected in Beijing Children′s Hospital, Capital Medical University from January 2012 to January 2019, the clinical manifestations, laboratory, imaging material, inspection results, renal pathological, gene analysis, treatment effect, and prognosis of MMA children with renal damage were analyzed, and were followed-up for 1-7 years.Results:Thirty cases were diagnosed as MMA with secondary renal damage.Eight cases(26.67%) showed as MMA-HUS.Age was from 1 month and 14 days to 12 years and 10 months old.There were 4 males and 4 females.The concentration of urine methylmalonic acid increased by 10-62 times.All were combined with hyperhomocysteine(HCY). The level of serum methylmalonic acid(1.5-11.8 mg/L), propylene carnitine(6.33-9.77 μmol/L)and the ratio of propylene /ethylene carnitine (0.24-0.29)were increased.Manifested as the mental and physical development retardation, anemia, jaundice, renal dysfunction, platelet reduction, hematuria, proteinuria in 8 cases, hypertension in 6 cases, frequent vomiting and convulsions in 2 cases.Two cases had a positive family history.Renal pathology showed that mesangial cells and mesangial matrix proliferation broadening, electron dense deposits no mesangial area, renal tubular epithelial cell swelling degeneration, immunofluorescence was negative.Two cases were genetically analyzed. One case was a CblC type MMACHC compound heterozygous mutation[c.80A>G(p.Q27R); c.217C>T(p.R73X)] and CblX type HCFC1 heterozygous mutation [c.3757G>A(p.R1253C)] double mutation; 1 case was a CblC type MMACHC compound heterozygous mutation[c.365A>T(p.H122L); c.609 G>A(p.W203X)]. Children diagnosed were treated with vitamin B 12, etc.Four cases of children gave up.The others, after treatment, were improved. Conclusions:MMA-HUS might be associated with multiple organ failure.Early diagnosis was the key, timely treatment could effectively control the disease, improve the prognosis.It should be followed up for ever.
ABSTRACT
Galactosemia is a metabolism abnormality caused by enzyme deficiency in the process of lactose metabolism.Patients with galactosemia usually have growth retardation, liver and kidney dysfunction and sepsis.Sometimes, they may also suffer from cataract, neurodevelopmental abnormalities and premature ovarian failure.In this article, the clinical data of a patient with galactosemia and heavy proteinuria who was hospitalized in Beijing Children′s Hospital Affiliated to Capital Medical University were collected.The etiology, clinical manifestations, treatment and follow-up data were analyzed retrospectively.The patient presented with massive proteinuria, and he was diagnosed with galactosemia by blood and urine metabolism screening and genetic testing.After dietary adjustment, the prognosis was good.Children with galactosemia and heavy proteinuria are rare, who should be considered with metabolic diseases in clinical practice, and the timely diagnosis and intervention are required.
ABSTRACT
Objective:To summarize the clinical characteristics of children with Streptococcus pneumoniae associated hemolytic uremic syndrome(SP-HUS). Methods:Clinical data, laboratory results, treatment and prognosis of patients with SP-HUS in Beijing Children′s Hospital, Capital Medical University from January 2010 to December 2017 were retrospectively analyzed.Results:Seven 7 children (5 boys and 2 girls) aged 18-43 months were enrolled.All of them had toxic symptoms and dyspnea.The clinical symptoms were fever and cough in 5 cases, and abdominal pain and vomiting in 2 cases.Five of them had fever and cough for onset, and two had abdominal pain and vomit for onset, hemolytic anemia, thrombocytopenia and decreasing renal function in 3-9 days.Clinical examination showed cardiac dysfunction in 4 cases, septic shock in 2 cases and neurological damage in 2 cases.Five cases had only Streptococcus pneumoniae infection, 2 cases had both Streptococcus pneumoniae and Acinetobacter infections.Both C-reactive protein and procalcitonin were significantly high(80-200 mg/L and 6.43-100.00 μg/L, respectively) in 7 cases.Peripheral blood smear demonstrated fragmented red blood cells.Marrow smear showed inhibition of erythroid proliferation in 4 cases and toxic granules in the granulocytes.The direct Coombs tests were positive in all but 1 case.Serum complement C 3 decreased in acute phase(0.42-0.66 g/L). In the acute stage chest X-ray showed massive consolidation, followed by liquefaction necrosis, cystic segmented encapsulation and void changes.Ultrasound with Doppler revealed enlarged liver and kidney which normalized in 2-3 months and 6-9 months, respectively.All the patients were treated with antimicrobial therapy for 4-8 weeks and received respiratory support, 5 cases received blood purification treatment, and 4 cases received plasmapheresis.Deteriorating hemolysis was not observed following the infusion of frozen plasma.washed type red blood cells or suspension red blood cells in all 7 cases.Platelet numbers gradually recovered in 2-3 weeks.Kidney function improved and normalized in 2-4 weeks.Radiographic demonstrations of the chest normalized gradually in almost 3-6 months. Conclusions:It is necessary to consider the possibility of SP-HUS in very young children with severe pneumonia who showed microangiopathic hemolytic anemia, thrombocytopenia and decreasing renal function.Clinicians should identify high-risk children.Timely respiratory support and blood purification are important to improve prognosis.
ABSTRACT
Streptococcus pneumoniae infections can cause systemic diseases, including urinary system diseases, such as Streptococcus pneumoniae associated hemolytic uremic syndrome, nephrotic syndrome with spontaneous peritonitis caused by Streptococcus pneumoniae infection and recurrent urinary tract infections in infants congenital urinary tract malformation.The early diagnosis and management of these diseases significantly improve the quality of life of children and reduce the mortality.
ABSTRACT
Objective:To investigate the etiology, complications and treatment of children with chronic kidney disease(CKD), in order to provide evidence for the comprehensive management.Methods:The clinical data of 371 children patients with CKD at stage 2 to 5 admitted to the Department of Nephrology, Beijing Children′s Hospital Affiliated to Capital Medical University from January 2012 to December 2018 were collected.The etiology, complications and treatment and other data were retrospectively investigated and analyzed.Results:(1)A total of 371 children with CKD were enrolled, and the male to female ratio was 1.44∶1.00.Thirty-five cases aged from 0 to 3, 54 cases aged from 4 to 6, 189 cases aged from 7 to 12, 93 cases aged from 13 to 18.Eleven cases were diagnosed at stage 2, 59 cases at stage 3, 62 cases at stage 4, and 239 cases at stage 5.(2) In all patients, 135 cases (36.39%) had congenital anomalies of the kidney and urinary tract(CAKUT), 77 cases (20.76%) had glomerular diseases, 21 cases (5.66%) had hereditary kidney diseases, 12 cases (3.23%) had tubulointerstitial diseases, 4 cases (1.08%) had inherited metabolic diseases, 5 cases (1.35%) had other diseases and in 117 cases (31.64%) the causes of disease were unknown.(3) Renal biopsy was performed in 57 cases with the rate of renal biopsy of 15.36%.The main pathologic types included focal segmental glomerulosclerosis(18 cases, 31.58%), sclerosing glomerulonephritis (13 cases, 22.81%) and tubulointerstitial nephropathy (10 cases, 17.54%). (4)Anemia and secondary hyperparathyroidism(SHPT) were the most common complications, accounting for 77.90% (289 cases) and 73.05% (271 cases), respectively, followed by hypertension (183 cases, 49.33%), cardiovascular disease (CVD) (139 cases, 37.47%) and protein-energy wasting (PEW) (51 cases, 13.75%) successively.The incidence of hypertension, anemia, SHPT and CVD in children with CKD at stage 5 were significantly higher than those in CKD at stage 2-4, and the differences were statistically significant( χ2=50.03, 122.36, 77.07, 64.89, all P<0.01). The incidence of hypertension and CVD in patients with glomerular diseases were higher than those in CAKUT patients, and the differences were statistically significant( χ2=65.63, 40.89, all P<0.01). The incidence of PEW in CAKUT was higher than that in patients with glomerular diseases, and the difference was statistically significant( χ2=10.58, P<0.01). (5)Initial renal replacement therapy was performed in 190 children, hemodialysis in 129 cases (67.89%), peritoneal dialysis in 31 cases (16.32%), and 30 cases (15.79%) refused treatment There was no transplant patient in initial treatment modality. Conclusions:In the center, the major cause of CKD stage 2 to 5 in children was CAKUT, but the proportion of CAKUT and glomerular diseases was similar in CKD stage 5.The most common complication of CKD in children is anemia.Hypertension, anemia, SHPT and CVD increased with the progression of CKD staging.SHPT usually occurs in children with CKD stage 4 and 5.The incidence of complications in children with CKD caused by different factors is different.Hemodialysis is the main method of initial renal replacement therapy in the center.
ABSTRACT
@#Using ALK5 inhibitor LY-3200882 as a lead compound, ten structurally novel compounds were designed by bioisosterism, conformational restriction and molecular docking technology. All structures were synthesized and confirmed by 1H NMR and HR-MS. The results of in vitro activity screening showed that most compounds had good kinase inhibitory activity. Among them, compound B4 showed significantly better ALK5 inhibitory activity than LY-3200882 (IC50 = 1.4 nmol/L vs 41.1 nmol/L), and had good inhibitory activity against TGFβ-ALK5-SMAD2/3 signaling pathway in NIH3T3 cells (IC50 = 14.2 nmol/L). Besides, compound B4 had good pharmacokinetic properties, such as oral exposure and bioavailability, which is worthy of further development.