Objective:To analyse the clinical characteristics of Mycoplasma pneumoniae pneumonia(MPP)in children under two years of age.Methods:A retrospective analysis was conducted on 112 paediatric cases of MPP admitted to our...Objective:To analyse the clinical characteristics of Mycoplasma pneumoniae pneumonia(MPP)in children under two years of age.Methods:A retrospective analysis was conducted on 112 paediatric cases of MPP admitted to our hospital between January 2022 and December 2023.Clinical data including symptoms,signs,imaging findings,and prognosis were collected.Results:Analysis of clinical symptom distribution revealed coughing in 100.0%of cases,comprising both paroxysmal dry cough and productive cough.Fever was present in 61.61%of cases,with additional manifestations including wheezing,vomiting,diarrhoea,and respiratory distress.Pulmonary rales were the most prevalent finding at 75.89%,alongside other signs such as diminished breath sounds.Imaging analysis of all 112 pneumonia cases revealed bronchopneumonia accounted for 70.54%of cases,representing a relatively high proportion.Treatment involved macrolide antibiotics,including azithromycin,with bronchodilators and corticosteroids added for significant wheezing.The overall treatment efficacy rate was 90.18%.Conclusion:Analysis of Mycoplasma pneumoniae characteristics in children under 2 years indicates that MPP in infants and young children under 2 presents with mild symptoms,pronounced signs,and relatively mild overall inflammation,resulting in a comparatively high overall cure rate.展开更多
AIM:To assesses the safety and efficacy of Aspergillus niger prolyl endoprotease(AN-PEP)to mitigate the im-munogenic effects of gluten in celiac patients.METHODS:Patients with initial diagnosis of celiac disease as co...AIM:To assesses the safety and efficacy of Aspergillus niger prolyl endoprotease(AN-PEP)to mitigate the im-munogenic effects of gluten in celiac patients.METHODS:Patients with initial diagnosis of celiac disease as confirmed by positive serology with subtotal or total villous atrophy on duodenal biopsies who adhere to a strict gluten-free diet(GFD)resulting in normalised antibodies and mucosal healing classified as Marsh 0 orⅠwere included.In a randomised double-blind placebo-controlled pilot study,patients consumed toast(approximately 7 g/d gluten)with AN-PEP for 2 wk(safety phase).After a 2-wk washout period with adherence of the usual GFD,14 patients were randomised to gluten intake with either AN-PEP or placebo for 2 wk(efficacy phase).Measurements at baseline included complaints,quality-of-life,serum antibodies,immunophenotyping of T-cells and duodenal mucosa immunohistology.Furthermore,serum and quality of life questionnaires were collected during and after the safety,washout and efficacy phase.Duodenal biopsies were collected after the safety phase and after the efficacy phase.A change in histological evaluation according to the modified Marsh classification was the primary endpoint.RESULTS:In total,16 adults were enrolled in the study.No serious adverse events occurred during the trial and no patients withdrew during the trial.The mean score for the gastrointestinal subcategory of the celiac disease quality(CDQ)was relatively high throughout the study,indicating that AN-PEP was well tolerated.In the efficacy phase,the CDQ scores of patients consuming gluten with placebo or gluten with AN-PEP did not significantly deteriorate and moreover no differences between the groups were observed.During the efficacy phase,neither the placebo nor the AN-PEP group developed significant antibody titers.The IgA-EM concentrations remained negative in both groups.Two patients were excluded from entering the efficacy phase as their mucosa showed an increase oftwo Marsh steps after the safety phase,yet with undetectable serum antibodies,while 14 patients were considered histologically stable on gluten with AN-PEP.Also after the efficacy phase,no significant deterioration was observed regarding immunohistological and flow cytometric evaluation in the group consuming placebo compared to the group receiving AN-PEP.Furthermore,IgA-tTG deposit staining increased after 2 wk of gluten compared to baseline in four out of seven patients on placebo.In the seven patients receiving AN-PEP,one patient showed increased and one showed decreased IgA-tTG deposits.CONCLUSION:AN-PEP appears to be well tolerated.However,the primary endpoint was not met due to lack of clinical deterioration upon placebo,impeding an effect of AN-PEP.展开更多
Hydroxycitric acid （HCA） is derived primarily from the Garcinia plant and is widely used for its anti-in- flammatory effects. Multiple sclerosis can cause an inflammatory demyelination and axonal damage. In this stu...Hydroxycitric acid （HCA） is derived primarily from the Garcinia plant and is widely used for its anti-in- flammatory effects. Multiple sclerosis can cause an inflammatory demyelination and axonal damage. In this study, to validate the hypothesis that HCA exhibits therapeutic effects on multiple sclerosis, we established female C57BL/6 mouse models of multiple sclerosis, i.e., experimental autoimmune encephalomyelitis, using Complete Freund＇s Adjuvant （CFA） emulsion containing myelin oligodendrocyte glycoprotein （35-55）. Treatment with HCA at 2 g/kg/d for 3 weeks obviously improved the symptoms of nerve injury of experimental autoimmune encephalomyelitis mice, decreased serum interleulin-6, tumor necrosis factor alpha, nitric oxide, and malondialdehyde levels, and increased superoxide dismutase and glutathione reduc- tase activities. These findings suggest that HCA exhibits neuroprotective effects on multiple sclerosis-caused nerve injury through ameliorating inflammation and oxidative stress.展开更多
Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The...Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The well-known limitations of this technique(i.e.,pain,bleeding and the need for sedation)have precluded its routine use in follow-up of patients with liver diseases.However,the introduction of non-invasive technologies,such as ultrasound and magnetic resonance imaging,for measurement of liver stiffness as an indirect marker of fibroses has changed this situation.Today,several noninvasive tools are available to physicians to estimate the degree of liver fibrosis by analysing liver stiffness.This review describes the currently available tools for liver stiffness determination that are applicable to follow-up of liver fibrosis/cirrhosis with established clinical use in children,and discusses their features in comparison to the"historical"tools.展开更多
Background:Ventricular septal defect(VSD)is the most common congenital heart disease.Transcatheter VSD closure is an effective treatment for patients with muscular and perimembranous VSD.However,there is a limit data ...Background:Ventricular septal defect(VSD)is the most common congenital heart disease.Transcatheter VSD closure is an effective treatment for patients with muscular and perimembranous VSD.However,there is a limit data for outlet VSD,especially impact to the aortic valve leaflet after transcatheter closure.This study aims to assess the outcomes of transcatheter closure of the outlet-type ventricular septal defect(OVSD)after 1 postoperative year.Methods:A retrospective study was performed including 50 patients who underwent transcatheter(n=25)and surgical(n=25)OVSD closure during the exact time frame at two medical centres.Results:The median age and body weight of patients in the transcatheter group were significantly higher than those of patients in the surgical group(7.0 vs.2.8 years;27.0 vs.11.4 kg;p<0.01).The defect size in the surgical group was significantly larger than that in the transcatheter group(5.0 vs.3.0 mm;p<0.01).All OVSD patients have successful transcatheter closure(100%)as effective as surgical closure.Less than small residual shunt was present 20%and 8%immediately after the procedure in the transcatheter and surgical groups(p=0.50),which decreased to 12%and 4%at the 1-year follow-up(p=0.61),respectively.No incidence of complete atrioventricular block and other complications was observed in both groups,and no significant differences were noted in the new onset or worsening of the aortic regurgitation in both groups(p=1.0).Conclusions:Transcatheter treatment could be effectively and safely achieved for OVSD closure at 1-year follow-up.展开更多
In autoimmune hepatitis, patients who are intolerant or with toxicity experience, non-responders, relapsers or refractory are challenging. Non-standard drugs are being tried to preemptively avoid corticosteroid-relate...In autoimmune hepatitis, patients who are intolerant or with toxicity experience, non-responders, relapsers or refractory are challenging. Non-standard drugs are being tried to preemptively avoid corticosteroid-related side effects. Prognosis and quality of life of life rely on treatment optimization. Recently, emergence of powerful immunosuppressive agents, mainly from liver transplantation, challenged the supremacy of the corticosteroid regime and promise greater immunosuppression than conventional medications, offer site-specific actions and satisfactory patient tolerance. Successes in experimental models of related diseases have primed these molecular interventions. We performed a literature review on alternative treatments. Azatioprine intolerance is the principal indication for mycophenolate use butit can be used as a front-line therapy. Cyclosporine A and tacrolimus have been tested for non-responders or relapsers. Rituximab may be used as salvage therapy. Anti-tumor necrosis factor-alpha agents may be used for incomplete responses or non-responders. Methotrexate is possibly an alternative for induction of remission and maintenance in refractory patients. Cyclophosphamide has been included in the induction regimen with corticosteroids. Ursodeoxycholic acid action is mainly immunomodulatory. Non-standard treatments are coming slowly to the attention, but its use should be cautious performed by experienced centers.展开更多
Background: In Bolivia there are few probiotic preparations available in the market, practically without alternatives to the use of freeze-dried products. An alternative used as a good alternative in other parts of th...Background: In Bolivia there are few probiotic preparations available in the market, practically without alternatives to the use of freeze-dried products. An alternative used as a good alternative in other parts of the world is yogurt with a probiotic strain added. In this study we report the use of a locally prepared yogurt with a lyophilized probiotic added. Methods: This is randomized, double-blind and controlled clinical trial in children hospitalized with acute diarrhoea carried out at the Paediatric Centre Albina Pati?o in Cochabamba, Bolivia with children 10 to 35 months participating. Children were randomly assigned to receive an oral rehydration solution and Saccharomyces boulardii (positive control) or the same solution plus yogurt preparation containing Lactobacillus rhamnosus (yogurt group). The primary outcome was the duration of diarrhoea. Secondary outcomes were the duration of fever, vomiting and hospitalization. Results: Of the 74 children incorporated 42 completed the protocol;baseline characteristics were similar in both groups. The median duration of diarrhoea was similar in children who received yogurt (71 hours) and controls (79 hours) (p = 0.3). The mean duration of fever was also similar in both groups: S. boulardii (24 hours) or yogurt (11 hours) (p = 1.02), as was the duration of vomiting: 17 hours vs. 32 hours in the control group (p = 0.37). A significant difference in the numbers of daily bowel movements was observed in the third day, the probiotic group was lower (p = 0.01). There was no effect on the duration of hospitalization (p = 0.26). Conclusions: The use of a yogurt containing L. rhamnosus has an effect comparable to S. boulardii. Introduction of yoghurt with a probiotic in the diet of patients hospitalized with acute diarrhoea may help reduce its duration, regardless of its aetiology.展开更多
Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn...Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.展开更多
A 2-mo-old infant born to a mother with Graves’disease and having symptoms of thyrotoxicosis was started on antithyroid drugs.Life-threatening hypocalcaemia requiring high-dose calcium infusions developed 1 mo after ...A 2-mo-old infant born to a mother with Graves’disease and having symptoms of thyrotoxicosis was started on antithyroid drugs.Life-threatening hypocalcaemia requiring high-dose calcium infusions developed 1 mo after starting therapy.Serum alkaline phosphatase and paratharmone levels were elevated.This communication may serve to alert treating physicians about this rare complication in infants with thyrotoxicosis after initiation of antithyroid therapy.Conclusion:Severe hypocalcaemia may follow initiation of antithyroid therapy in infants with thyrotoxicosis.展开更多
Background: With the introduction of new therapies in peri-and neonatology, the clinical picture of bronchopulmonary dysplasia (BPD) seems to alter. The consequences of this “new BPD”are of interest. Aim: To evaluat...Background: With the introduction of new therapies in peri-and neonatology, the clinical picture of bronchopulmonary dysplasia (BPD) seems to alter. The consequences of this “new BPD”are of interest. Aim: To evaluate cardiovascular findings during the surfactant era in very low birthweight (VLBW, birth weight <1500 g) schoolchildren with and without BPD. Methods: At 7-8 years of age, 34 VLBW children with BPD born in one hospital underwent blood pressure (BP) measurement, electrocardiography (ECG), two-dimensional Doppler and M-mode echocardiography, flow-volume spirometry and whole-body plethysmography. The age-and sex-matched control groups comprised 34 VLBW children without BPD (no-BPD group) and 34 term children (term group). Results: The mean(SD) diastolic BP was significantly higher in the no-BPD than in the BPD group (65(9) vs. 59(8) mm Hg, p<0.05). No clinically significant tricuspid regurgitations were found. The groups did not differ with respect to right ventricular systolic time intervals corrected for heart rate. The results of all M-mode measurements were within normal range. Compared to term controls, the BPD cases had lower mean(SD) forced expiratory flow in 1 s (90(14)%vs. 99(11)%of ref., p<0.05)-and more often high ratio of residual volume to total lung capacity (15(52%) vs. 4(13%), p<0.01). No clinically significant correlations were found between current lung function and echocardiographic findings. Conclusion: In the surfactant era, school-aged VLBW survivors with and without BPD do not seem to evince indirect signs of elevated pulmonary pressure. The increased pulmonary vascular resistance associated with BPD appears to resolve with time more rapidly than abnormalities in respiratory function.展开更多
Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus...Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism （SNP） scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calcutated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect （P=0.0037） by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect （P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks）. Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.展开更多
Background The utility of routine extensive molecular profiling of pediatric tumors is a matter of debate due to the high number of genetic alterations of unknown significance or low evidence and the lack of standardi...Background The utility of routine extensive molecular profiling of pediatric tumors is a matter of debate due to the high number of genetic alterations of unknown significance or low evidence and the lack of standardized and personalized decision support methods.Digital drug assignment(DDA)is a novel computational method to prioritize treatment options by aggregating numerous evidence-based associations between multiple drivers,targets,and targeted agents.DDA has been validated to improve personalized treatment decisions based on the outcome data of adult patients treated in the SHIVA01 clinical trial.The aim of this study was to evaluate the utility of DDA in pediatric oncology.Methods Between 2017 and 2020,103 high-risk pediatric cancer patients(<21 years)were involved in our precision oncology program,and samples from 100 patients were eligible for further analysis.Tissue or blood samples were analyzed by whole-exome(WES)or targeted panel sequencing and other molecular diagnostic modalities and processed by a software system using the DDA algorithm for therapeutic decision support.Finally,a molecular tumor board(MTB)evaluated the results to provide therapy recommendations.Results Of the 100 cases with comprehensive molecular diagnostic data,88 yielded WES and 12 panel sequencing results.DDA identified matching off-label targeted treatment options(actionability)in 72/100 cases(72%),while 57/100(57%)showed potential drug resistance.Actionability reached 88%(29/33)by 2020 due to the continuous updates of the evidence database.MTB approved the clinical use of a DDA-top-listed treatment in 56 of 72 actionable cases(78%).The approved therapies had significantly higher aggregated evidence levels(AELs)than dismissed therapies.Filtering of WES results for targeted panels missed important mutations affecting therapy selection.Conclusions DDA is a promising approach to overcome challenges associated with the interpretation of extensive molecular profiling in the routine care of high-risk pediatric cancers.Knowledgebase updates enable automatic interpretation of a continuously expanding gene set,a“virtual”panel,filtered out from genome-wide analysis to always maximize the performance of precision treatment planning.展开更多
Background:The epidemiological data on post-burn growth,body composition and motor devel-opment is ambiguous and scattered.The aim of this systematic review was therefore to summarize the current body of evidence on p...Background:The epidemiological data on post-burn growth,body composition and motor devel-opment is ambiguous and scattered.The aim of this systematic review was therefore to summarize the current body of evidence on post-burn growth,body composition and motor development in children.Methods:A literature search was conducted in PubMed,EMBASE and Web of Science up to March 2021.We considered observational studies that reported(1)metrics on weight,height,body composition,bone mineral content,bone mineral density or motor development,in(2)paediatric burn patients and(3)published in a peer-reviewed journal.Results:A total of 16 studies were included.Each of the included studies used quantitative methods,but with differing methodology:prospective cohort studies(n=8),retrospective chart reviews(n=3),case-control studies(n=2),cross sectional studies(n=2)and a retrospective cohort study(n=1).When combined,the included studies represented 2022 paediatric burn patients,with a mean age of 7.7(±3.2)years.The average burn sizewas 52.8%(±12.7)of the total body surface area.Identified outcome measures included weight(n=12),height(n=7),muscular strength(n=4),bone mineral content(n=5),bone mineral density(n=5),body mass index(n=3),fat mass(n=5),lean body mass(n=7)and fine and gross motor development(n=1).Conclusions:Following an initial decline,patients’growth and motor development started to recover during the first or second year post-burn.Nonetheless,burns may have a profound and prolonged effect on the paediatric burn patients’muscular strength,bone mineral content and lean body mass.It should be noted that the vast majority of studies included only patients with burns covering≥30%total body surface area.The evidence presented in this review may thus not be representative of the whole paediatric burn population.展开更多
文摘Objective:To analyse the clinical characteristics of Mycoplasma pneumoniae pneumonia(MPP)in children under two years of age.Methods:A retrospective analysis was conducted on 112 paediatric cases of MPP admitted to our hospital between January 2022 and December 2023.Clinical data including symptoms,signs,imaging findings,and prognosis were collected.Results:Analysis of clinical symptom distribution revealed coughing in 100.0%of cases,comprising both paroxysmal dry cough and productive cough.Fever was present in 61.61%of cases,with additional manifestations including wheezing,vomiting,diarrhoea,and respiratory distress.Pulmonary rales were the most prevalent finding at 75.89%,alongside other signs such as diminished breath sounds.Imaging analysis of all 112 pneumonia cases revealed bronchopneumonia accounted for 70.54%of cases,representing a relatively high proportion.Treatment involved macrolide antibiotics,including azithromycin,with bronchodilators and corticosteroids added for significant wheezing.The overall treatment efficacy rate was 90.18%.Conclusion:Analysis of Mycoplasma pneumoniae characteristics in children under 2 years indicates that MPP in infants and young children under 2 presents with mild symptoms,pronounced signs,and relatively mild overall inflammation,resulting in a comparatively high overall cure rate.
文摘AIM:To assesses the safety and efficacy of Aspergillus niger prolyl endoprotease(AN-PEP)to mitigate the im-munogenic effects of gluten in celiac patients.METHODS:Patients with initial diagnosis of celiac disease as confirmed by positive serology with subtotal or total villous atrophy on duodenal biopsies who adhere to a strict gluten-free diet(GFD)resulting in normalised antibodies and mucosal healing classified as Marsh 0 orⅠwere included.In a randomised double-blind placebo-controlled pilot study,patients consumed toast(approximately 7 g/d gluten)with AN-PEP for 2 wk(safety phase).After a 2-wk washout period with adherence of the usual GFD,14 patients were randomised to gluten intake with either AN-PEP or placebo for 2 wk(efficacy phase).Measurements at baseline included complaints,quality-of-life,serum antibodies,immunophenotyping of T-cells and duodenal mucosa immunohistology.Furthermore,serum and quality of life questionnaires were collected during and after the safety,washout and efficacy phase.Duodenal biopsies were collected after the safety phase and after the efficacy phase.A change in histological evaluation according to the modified Marsh classification was the primary endpoint.RESULTS:In total,16 adults were enrolled in the study.No serious adverse events occurred during the trial and no patients withdrew during the trial.The mean score for the gastrointestinal subcategory of the celiac disease quality(CDQ)was relatively high throughout the study,indicating that AN-PEP was well tolerated.In the efficacy phase,the CDQ scores of patients consuming gluten with placebo or gluten with AN-PEP did not significantly deteriorate and moreover no differences between the groups were observed.During the efficacy phase,neither the placebo nor the AN-PEP group developed significant antibody titers.The IgA-EM concentrations remained negative in both groups.Two patients were excluded from entering the efficacy phase as their mucosa showed an increase oftwo Marsh steps after the safety phase,yet with undetectable serum antibodies,while 14 patients were considered histologically stable on gluten with AN-PEP.Also after the efficacy phase,no significant deterioration was observed regarding immunohistological and flow cytometric evaluation in the group consuming placebo compared to the group receiving AN-PEP.Furthermore,IgA-tTG deposit staining increased after 2 wk of gluten compared to baseline in four out of seven patients on placebo.In the seven patients receiving AN-PEP,one patient showed increased and one showed decreased IgA-tTG deposits.CONCLUSION:AN-PEP appears to be well tolerated.However,the primary endpoint was not met due to lack of clinical deterioration upon placebo,impeding an effect of AN-PEP.
基金supported by Vice Chancellor for Research,Alborz University of Medical Sciences,No.1394-01-01-1050
文摘Hydroxycitric acid （HCA） is derived primarily from the Garcinia plant and is widely used for its anti-in- flammatory effects. Multiple sclerosis can cause an inflammatory demyelination and axonal damage. In this study, to validate the hypothesis that HCA exhibits therapeutic effects on multiple sclerosis, we established female C57BL/6 mouse models of multiple sclerosis, i.e., experimental autoimmune encephalomyelitis, using Complete Freund＇s Adjuvant （CFA） emulsion containing myelin oligodendrocyte glycoprotein （35-55）. Treatment with HCA at 2 g/kg/d for 3 weeks obviously improved the symptoms of nerve injury of experimental autoimmune encephalomyelitis mice, decreased serum interleulin-6, tumor necrosis factor alpha, nitric oxide, and malondialdehyde levels, and increased superoxide dismutase and glutathione reduc- tase activities. These findings suggest that HCA exhibits neuroprotective effects on multiple sclerosis-caused nerve injury through ameliorating inflammation and oxidative stress.
文摘Changes in liver structure are an important issue in chronic hepatopathies.Until the end of the 20 th century,these changes could only be determined by histological analyses of a liver specimen obtained via biopsy.The well-known limitations of this technique(i.e.,pain,bleeding and the need for sedation)have precluded its routine use in follow-up of patients with liver diseases.However,the introduction of non-invasive technologies,such as ultrasound and magnetic resonance imaging,for measurement of liver stiffness as an indirect marker of fibroses has changed this situation.Today,several noninvasive tools are available to physicians to estimate the degree of liver fibrosis by analysing liver stiffness.This review describes the currently available tools for liver stiffness determination that are applicable to follow-up of liver fibrosis/cirrhosis with established clinical use in children,and discusses their features in comparison to the"historical"tools.
文摘Background:Ventricular septal defect(VSD)is the most common congenital heart disease.Transcatheter VSD closure is an effective treatment for patients with muscular and perimembranous VSD.However,there is a limit data for outlet VSD,especially impact to the aortic valve leaflet after transcatheter closure.This study aims to assess the outcomes of transcatheter closure of the outlet-type ventricular septal defect(OVSD)after 1 postoperative year.Methods:A retrospective study was performed including 50 patients who underwent transcatheter(n=25)and surgical(n=25)OVSD closure during the exact time frame at two medical centres.Results:The median age and body weight of patients in the transcatheter group were significantly higher than those of patients in the surgical group(7.0 vs.2.8 years;27.0 vs.11.4 kg;p<0.01).The defect size in the surgical group was significantly larger than that in the transcatheter group(5.0 vs.3.0 mm;p<0.01).All OVSD patients have successful transcatheter closure(100%)as effective as surgical closure.Less than small residual shunt was present 20%and 8%immediately after the procedure in the transcatheter and surgical groups(p=0.50),which decreased to 12%and 4%at the 1-year follow-up(p=0.61),respectively.No incidence of complete atrioventricular block and other complications was observed in both groups,and no significant differences were noted in the new onset or worsening of the aortic regurgitation in both groups(p=1.0).Conclusions:Transcatheter treatment could be effectively and safely achieved for OVSD closure at 1-year follow-up.
文摘In autoimmune hepatitis, patients who are intolerant or with toxicity experience, non-responders, relapsers or refractory are challenging. Non-standard drugs are being tried to preemptively avoid corticosteroid-related side effects. Prognosis and quality of life of life rely on treatment optimization. Recently, emergence of powerful immunosuppressive agents, mainly from liver transplantation, challenged the supremacy of the corticosteroid regime and promise greater immunosuppression than conventional medications, offer site-specific actions and satisfactory patient tolerance. Successes in experimental models of related diseases have primed these molecular interventions. We performed a literature review on alternative treatments. Azatioprine intolerance is the principal indication for mycophenolate use butit can be used as a front-line therapy. Cyclosporine A and tacrolimus have been tested for non-responders or relapsers. Rituximab may be used as salvage therapy. Anti-tumor necrosis factor-alpha agents may be used for incomplete responses or non-responders. Methotrexate is possibly an alternative for induction of remission and maintenance in refractory patients. Cyclophosphamide has been included in the induction regimen with corticosteroids. Ursodeoxycholic acid action is mainly immunomodulatory. Non-standard treatments are coming slowly to the attention, but its use should be cautious performed by experienced centers.
文摘Background: In Bolivia there are few probiotic preparations available in the market, practically without alternatives to the use of freeze-dried products. An alternative used as a good alternative in other parts of the world is yogurt with a probiotic strain added. In this study we report the use of a locally prepared yogurt with a lyophilized probiotic added. Methods: This is randomized, double-blind and controlled clinical trial in children hospitalized with acute diarrhoea carried out at the Paediatric Centre Albina Pati?o in Cochabamba, Bolivia with children 10 to 35 months participating. Children were randomly assigned to receive an oral rehydration solution and Saccharomyces boulardii (positive control) or the same solution plus yogurt preparation containing Lactobacillus rhamnosus (yogurt group). The primary outcome was the duration of diarrhoea. Secondary outcomes were the duration of fever, vomiting and hospitalization. Results: Of the 74 children incorporated 42 completed the protocol;baseline characteristics were similar in both groups. The median duration of diarrhoea was similar in children who received yogurt (71 hours) and controls (79 hours) (p = 0.3). The mean duration of fever was also similar in both groups: S. boulardii (24 hours) or yogurt (11 hours) (p = 1.02), as was the duration of vomiting: 17 hours vs. 32 hours in the control group (p = 0.37). A significant difference in the numbers of daily bowel movements was observed in the third day, the probiotic group was lower (p = 0.01). There was no effect on the duration of hospitalization (p = 0.26). Conclusions: The use of a yogurt containing L. rhamnosus has an effect comparable to S. boulardii. Introduction of yoghurt with a probiotic in the diet of patients hospitalized with acute diarrhoea may help reduce its duration, regardless of its aetiology.
文摘Aim: We hypothesized that polymorphisms in the region encoding for the second transmembrane spanning domain of the epithelial sodium channel may be one factor in the pathogenesis of transient tachypnoea of the newborn. We thus searched for polymorphisms in this region in neonates with transient tachypnoea of the newborn. We also investigated samples from preterm neonates with respiratory distress syndrome, as dysfunction of the epithelial sodium channel might also increase the risk for developing respiratory distress syndrome and in fluence its course. Methods: We used denaturing gradient gel electrophoresis to detect sequence variants in exon 12 and 13 of the epithelial sodium channel. Forty-three neonates with transient tachypnoea of the newborn (gestational age mean± SD : 38.3± 1.2 completed weeks; birthweight: 3088± 426 g), 57 neonates with RDS (gestational age: 29.6 ± 3.5 completed weeks; birthweight: 1272 ± 638 g), and 50 healthy controls were enrolled prospectively. Results: We did not detect any polymorphism. Neither did confirmative sequencing of this region in 16 neonates with transient tachypnoea of the newborn reveal any polymorphism. Conclusion: We conclude that reasons other than polymorphisms in the second transmembrane spanning domain cause transient tachypnoea of the newborn.
文摘A 2-mo-old infant born to a mother with Graves’disease and having symptoms of thyrotoxicosis was started on antithyroid drugs.Life-threatening hypocalcaemia requiring high-dose calcium infusions developed 1 mo after starting therapy.Serum alkaline phosphatase and paratharmone levels were elevated.This communication may serve to alert treating physicians about this rare complication in infants with thyrotoxicosis after initiation of antithyroid therapy.Conclusion:Severe hypocalcaemia may follow initiation of antithyroid therapy in infants with thyrotoxicosis.
文摘Background: With the introduction of new therapies in peri-and neonatology, the clinical picture of bronchopulmonary dysplasia (BPD) seems to alter. The consequences of this “new BPD”are of interest. Aim: To evaluate cardiovascular findings during the surfactant era in very low birthweight (VLBW, birth weight <1500 g) schoolchildren with and without BPD. Methods: At 7-8 years of age, 34 VLBW children with BPD born in one hospital underwent blood pressure (BP) measurement, electrocardiography (ECG), two-dimensional Doppler and M-mode echocardiography, flow-volume spirometry and whole-body plethysmography. The age-and sex-matched control groups comprised 34 VLBW children without BPD (no-BPD group) and 34 term children (term group). Results: The mean(SD) diastolic BP was significantly higher in the no-BPD than in the BPD group (65(9) vs. 59(8) mm Hg, p<0.05). No clinically significant tricuspid regurgitations were found. The groups did not differ with respect to right ventricular systolic time intervals corrected for heart rate. The results of all M-mode measurements were within normal range. Compared to term controls, the BPD cases had lower mean(SD) forced expiratory flow in 1 s (90(14)%vs. 99(11)%of ref., p<0.05)-and more often high ratio of residual volume to total lung capacity (15(52%) vs. 4(13%), p<0.01). No clinically significant correlations were found between current lung function and echocardiographic findings. Conclusion: In the surfactant era, school-aged VLBW survivors with and without BPD do not seem to evince indirect signs of elevated pulmonary pressure. The increased pulmonary vascular resistance associated with BPD appears to resolve with time more rapidly than abnormalities in respiratory function.
基金This work was supported by Beijing Municipal Science ＆ Technology Commission （No.Y0204004040231） and the National Science Foundation of China （No.30672193）.Acknowledgements： We thank patients and their families for participating and members of the Paediatric Heart Centre for support. We thank Beijing Genomics Institute for providing material and technical support.
文摘Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism （SNP） scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calcutated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect （P=0.0037） by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect （P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks）. Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.
基金Open access funding provided by Semmelweis UniversityHungarian Innovation Agency under NVKP_16-1-2016-0005,KFI_16-1-2016-0048,NKFIH K_22143021 and 2019-1.1.1-PIACI-KFI-2019-00367 projects,K_143021.
文摘Background The utility of routine extensive molecular profiling of pediatric tumors is a matter of debate due to the high number of genetic alterations of unknown significance or low evidence and the lack of standardized and personalized decision support methods.Digital drug assignment(DDA)is a novel computational method to prioritize treatment options by aggregating numerous evidence-based associations between multiple drivers,targets,and targeted agents.DDA has been validated to improve personalized treatment decisions based on the outcome data of adult patients treated in the SHIVA01 clinical trial.The aim of this study was to evaluate the utility of DDA in pediatric oncology.Methods Between 2017 and 2020,103 high-risk pediatric cancer patients(<21 years)were involved in our precision oncology program,and samples from 100 patients were eligible for further analysis.Tissue or blood samples were analyzed by whole-exome(WES)or targeted panel sequencing and other molecular diagnostic modalities and processed by a software system using the DDA algorithm for therapeutic decision support.Finally,a molecular tumor board(MTB)evaluated the results to provide therapy recommendations.Results Of the 100 cases with comprehensive molecular diagnostic data,88 yielded WES and 12 panel sequencing results.DDA identified matching off-label targeted treatment options(actionability)in 72/100 cases(72%),while 57/100(57%)showed potential drug resistance.Actionability reached 88%(29/33)by 2020 due to the continuous updates of the evidence database.MTB approved the clinical use of a DDA-top-listed treatment in 56 of 72 actionable cases(78%).The approved therapies had significantly higher aggregated evidence levels(AELs)than dismissed therapies.Filtering of WES results for targeted panels missed important mutations affecting therapy selection.Conclusions DDA is a promising approach to overcome challenges associated with the interpretation of extensive molecular profiling in the routine care of high-risk pediatric cancers.Knowledgebase updates enable automatic interpretation of a continuously expanding gene set,a“virtual”panel,filtered out from genome-wide analysis to always maximize the performance of precision treatment planning.
基金funded by the Dutch Burns Foundation(18.102 to A.Pijpe).
文摘Background:The epidemiological data on post-burn growth,body composition and motor devel-opment is ambiguous and scattered.The aim of this systematic review was therefore to summarize the current body of evidence on post-burn growth,body composition and motor development in children.Methods:A literature search was conducted in PubMed,EMBASE and Web of Science up to March 2021.We considered observational studies that reported(1)metrics on weight,height,body composition,bone mineral content,bone mineral density or motor development,in(2)paediatric burn patients and(3)published in a peer-reviewed journal.Results:A total of 16 studies were included.Each of the included studies used quantitative methods,but with differing methodology:prospective cohort studies(n=8),retrospective chart reviews(n=3),case-control studies(n=2),cross sectional studies(n=2)and a retrospective cohort study(n=1).When combined,the included studies represented 2022 paediatric burn patients,with a mean age of 7.7(±3.2)years.The average burn sizewas 52.8%(±12.7)of the total body surface area.Identified outcome measures included weight(n=12),height(n=7),muscular strength(n=4),bone mineral content(n=5),bone mineral density(n=5),body mass index(n=3),fat mass(n=5),lean body mass(n=7)and fine and gross motor development(n=1).Conclusions:Following an initial decline,patients’growth and motor development started to recover during the first or second year post-burn.Nonetheless,burns may have a profound and prolonged effect on the paediatric burn patients’muscular strength,bone mineral content and lean body mass.It should be noted that the vast majority of studies included only patients with burns covering≥30%total body surface area.The evidence presented in this review may thus not be representative of the whole paediatric burn population.
