ISRN pediatrics最新文献

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22q13.32 deletion and duplication and inversion in the same family: a rare occurrence. 22q13.32同一家族的缺失、重复和反转:罕见发生。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-06-21 DOI: 10.5402/2011/829825
Farooqua Jafri, James Fink, Rodney R Higgins, Raymond Tervo
{"title":"22q13.32 deletion and duplication and inversion in the same family: a rare occurrence.","authors":"Farooqua Jafri,&nbsp;James Fink,&nbsp;Rodney R Higgins,&nbsp;Raymond Tervo","doi":"10.5402/2011/829825","DOIUrl":"https://doi.org/10.5402/2011/829825","url":null,"abstract":"<p><p>Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. His genetic testing revealed he had 22q13.3 duplication to the terminus. His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus. Their mother had a long inversion on her 22nd chromosome. Genetic tests for their father and eldest brother were unremarkable. The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children. The chance of a child born with a chromosome imbalance is as high as 50%.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"829825"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/829825","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30506732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. 一种新的p.Phe330Ser突变引起的GCK-MODY (MODY 2)
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-04-26 DOI: 10.5402/2011/676549
Walter Bonfig, Sandra Hermanns, Katharina Warncke, Gabriele Eder, Ilse Engelsberger, Stefan Burdach, Annette Gabriele Ziegler, Peter Lohse
{"title":"GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.","authors":"Walter Bonfig,&nbsp;Sandra Hermanns,&nbsp;Katharina Warncke,&nbsp;Gabriele Eder,&nbsp;Ilse Engelsberger,&nbsp;Stefan Burdach,&nbsp;Annette Gabriele Ziegler,&nbsp;Peter Lohse","doi":"10.5402/2011/676549","DOIUrl":"https://doi.org/10.5402/2011/676549","url":null,"abstract":"<p><p>Maturity onset diabetes of the young (MODY) is a monogenic form of diabetes inherited as an autosomal dominant trait. The second most common cause is GCK-MODY due to heterozygous mutations in the GCK gene which impair the glucokinase function through different mechanisms such as enzymatic activity, protein stability, and increased interaction with its receptor. The enzyme normally acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We report here a three-generation nonobese family diagnosed with diabetes. All affected family members presented with mild hyperglycemia and mostly slightly elevated hemoglobin A1c values. Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine(330) TTC → serine (TCC)/p.Phe330Ser/F330S substitution.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"676549"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/676549","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30505760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Reducing prescribing errors in paediatric patients by assessment and feedback targeted at prescribers. 通过针对处方者的评估和反馈减少儿科患者的处方错误。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-09-20 DOI: 10.5402/2011/545681
Michael Eisenhut, Blanche Sun, Sarah Skinner
{"title":"Reducing prescribing errors in paediatric patients by assessment and feedback targeted at prescribers.","authors":"Michael Eisenhut,&nbsp;Blanche Sun,&nbsp;Sarah Skinner","doi":"10.5402/2011/545681","DOIUrl":"https://doi.org/10.5402/2011/545681","url":null,"abstract":"<p><p>Prescribing errors are the most common type of medical errors and can result in harm particularly in young children. Doctors were enrolled in a programme of written assessment in prescribing skills and individualized feedback. Pharmacists audited the impact. The setting was the paediatric wards and neonatal unit of a District General Hospital. 16 doctors were tested and received feedback. A total of 110 errors were identified in this test, out of a 51 were classified as major including wrong dose and frequency, and prescribing medication the patient had an allergy to. Audit of impact of this intervention revealed a reduction of errors from 47 to 21, and patients affected from 19 to 11 per 100 (P = 0.001) emergency admissions compared to an audit before the intervention. An intervention combining a comprehensive multifaceted assessment and detailed feedback can lead to reduction of prescribing errors in paediatric trainees.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":" ","pages":"545681"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40173388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 11
A pilot study of social competence assessment using interaction rating scale advanced. 提出了一种应用交互评定量表进行社会能力评价的初步研究。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-12-28 DOI: 10.5402/2011/272913
T Anme, T Watanabe, K Tokutake, E Tomisaki, Y Mochizuki, E Tanaka, B Wu, M Nanba, R Shinohara, Y Sugisawa
{"title":"A pilot study of social competence assessment using interaction rating scale advanced.","authors":"T Anme,&nbsp;T Watanabe,&nbsp;K Tokutake,&nbsp;E Tomisaki,&nbsp;Y Mochizuki,&nbsp;E Tanaka,&nbsp;B Wu,&nbsp;M Nanba,&nbsp;R Shinohara,&nbsp;Y Sugisawa","doi":"10.5402/2011/272913","DOIUrl":"https://doi.org/10.5402/2011/272913","url":null,"abstract":"<p><p>Purpose. The purpose of this paper is to clarify the validity of the Interaction Rating Scale Advanced (IRSA) as an evidence-based practical index of social skills. Methods. The participants in our study were 17 high school students. The participants completed the five-minute interaction session and were observed using the IRSA. Their teacher evaluated their social competence based on regular observation in school. Results. The results indicated the high correlation between IRSA scores and teacher's practical evaluation. IRSA can measure social competence with high validity. Conclusion. The IRSA provides further evidence of the fact that in order to study social competence development, it is important to evaluate various features of the interaction like IRSA subscales.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"272913"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30505254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 15
Glomerulonephritis with crescents in children: etiology and predictors of renal outcome. 儿童月牙状肾小球肾炎:病因学和肾脏预后的预测因素。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-10-30 DOI: 10.5402/2011/507298
K Alsaad, N Oudah, A Al Ameer, K Fakeeh, A Al Jomaih, A Al Sayyari
{"title":"Glomerulonephritis with crescents in children: etiology and predictors of renal outcome.","authors":"K Alsaad,&nbsp;N Oudah,&nbsp;A Al Ameer,&nbsp;K Fakeeh,&nbsp;A Al Jomaih,&nbsp;A Al Sayyari","doi":"10.5402/2011/507298","DOIUrl":"https://doi.org/10.5402/2011/507298","url":null,"abstract":"<p><p>Objective. To investigate the clinicopathological features and outcome of glomerulonephritis with crescents among Saudi children. Method. This is a retrospective study of cases of crescentic glomerulonephritis (CrGN) seen over a 9-year period. Histological features and renal function were recorded. Results. Thirty-seven cases were enrolled. The mean percent of glomeruli with crescents was 39% (±19). Lupus nephritis (LN) was the commonest etiology (54.1%). At presentation, the serum creatinine (SCr) was 218.2 (±174.3) umol/l, and 57.1% of the cases had nephrotic range proteinuria. By the end of the observation period, SCr dropped to 81.0 (±67.7) umol/l (P = 0.001). Worsening renal function was associated with younger age (P = 0.002), non-LN etiology (P = 0.01), more crescents (P = 0.019), and ATN (P = 0.05). At the end of the followup, more patients in the LN group were dialysis-free (P = 0.017) and had improved renal function (0.01) than in the non-LN group. Using multivariate analysis, the only independent factor found to predict need for dialysis or change in SCr level was percent of globally sclerosed glomeruli (P = 0.034). Conclusion. LN is the main cause of CrGN in our cohort of children. The LN group had less globally sclerorsed glomeruli and better renal prognosis than the non-LN group.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"507298"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263585/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30505261","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Childhood asthma utilization rates in a nonsmoking population of utah compared to state and national rates. 将犹他州非吸烟人群的儿童哮喘使用率与州和全国比率进行比较。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-10-12 DOI: 10.5402/2011/750213
Lisa H Gren, Brooke Taylor, Joseph L Lyon
{"title":"Childhood asthma utilization rates in a nonsmoking population of utah compared to state and national rates.","authors":"Lisa H Gren,&nbsp;Brooke Taylor,&nbsp;Joseph L Lyon","doi":"10.5402/2011/750213","DOIUrl":"https://doi.org/10.5402/2011/750213","url":null,"abstract":"Risk factors, such as parental smoking, are commonly associated with increased asthma symptoms and hospitalizations of children. Deseret Mutual Benefits Administrators (DMBA) is the health insurer for employees of The Church of Jesus Christ of Latter-day Saints and their families. Due to religious proscription, employees abstain from alcohol and tobacco use, creating a cohort of children not exposed to parental smoking. Calculation of hospitalization rates for DMBA, Utah, and the US were made in children to compare rates between a nonsmoking population and general populations. Compared to DMBA, rate ratios for asthma hospitalization and emergency department asthma visits were higher for the US and Utah. The incidence of hospital outpatient department and physician office visits was significantly greater for the US population compared to the DMBA. This study demonstrates a decreased need for health services used by children not exposed to second-hand smoke.","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"750213"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3263579/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30505764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
Successful treatment of chronic osteomyelitis of the radius. 成功治疗桡骨慢性骨髓炎。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2010-12-27 DOI: 10.5402/2011/154878
Barry J O'Neill, Kieran M Hirpara, T Kenneth Kaar
{"title":"Successful treatment of chronic osteomyelitis of the radius.","authors":"Barry J O'Neill,&nbsp;Kieran M Hirpara,&nbsp;T Kenneth Kaar","doi":"10.5402/2011/154878","DOIUrl":"https://doi.org/10.5402/2011/154878","url":null,"abstract":"<p><p>Chronic osteomyelitis is uncommon in the United Kingdom and Ireland. Current migration trends with an influx of people from less affluent nations may result in more cases of chronic osteomyelitis being seen in community and hospital practice. We report on a case of chronic osteomyelitis of the radius and document current treatment recommendations.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"154878"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/154878","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30556935","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
The use of dexamethasone in bacterial meningitis in children and adults: a retrospective analysis. 地塞米松治疗儿童和成人细菌性脑膜炎的回顾性分析。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-12-28 DOI: 10.5402/2011/380283
An-Sophie Cornelis, Said Hachimi-Idrissi
{"title":"The use of dexamethasone in bacterial meningitis in children and adults: a retrospective analysis.","authors":"An-Sophie Cornelis,&nbsp;Said Hachimi-Idrissi","doi":"10.5402/2011/380283","DOIUrl":"https://doi.org/10.5402/2011/380283","url":null,"abstract":"<p><p>Bacterial meningitis is a life-threatening illness that results from bacterial infection of the meninges and is associated with high mortality and morbidity rate, especially when the Streptococcus pneumoniae is the causative agent. Dexamethasone as adjunctive therapy to antibiotics does not influence the outcome or the complications in children as well as in adults suffering bacterial meningitis. However, we identified some prognostic parameters in the outcome of bacterial meningitis, and when dexamethasone was given in presence of at least one of 3 poor prognostic CSF parameters (WBC < 1000/mm(3), glucose < 20 mg/dl, lactate > 10 mg/dl) it substantially improved the outcome.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"380283"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/380283","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30505258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Multimodal behavior program for ADHD incorporating yoga and implemented by high school volunteers: a pilot study. 结合瑜伽的多动症多模式行为项目,并由高中志愿者实施:一项试点研究。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2011-08-11 DOI: 10.5402/2011/780745
Sanjiv Mehta, Vijay Mehta, Sagar Mehta, Devesh Shah, Ashok Motiwala, Jay Vardhan, Naina Mehta, Devendra Mehta
{"title":"Multimodal behavior program for ADHD incorporating yoga and implemented by high school volunteers: a pilot study.","authors":"Sanjiv Mehta,&nbsp;Vijay Mehta,&nbsp;Sagar Mehta,&nbsp;Devesh Shah,&nbsp;Ashok Motiwala,&nbsp;Jay Vardhan,&nbsp;Naina Mehta,&nbsp;Devendra Mehta","doi":"10.5402/2011/780745","DOIUrl":"https://doi.org/10.5402/2011/780745","url":null,"abstract":"<p><p>A low-cost resource approach to ADHD therapy would be a practical approach to treating children in developing countries. Research has shown that ADHD is prevalent in all areas of the world, and yet treatment for children in more impoverished countries is still lacking. The approach taken was to combine yoga and meditation combined with multimodal behavioral therapy program for children ageing 6 to 11. The program was kept low cost by using trained high school volunteers and integrating the program within the public school. After 6 weeks of the program, 90.5% of children showed improvement as measured by their performance impairment score, a measurement of academic performance. Parent and Teacher evaluations of behavior also found improvement as 25 of the 64 children (39.1%) improved into the normal range as measured by the Vanderbilt questionnaire. Moreover, children could successfully learn both yoga and meditation from high school students irrespective of their age, ADHD type, or initial performance impairment. The results demonstrate efficacy of a multimodal behavioral program incorporating yoga and meditation. The use of high school volunteers from schools in the area demonstrates an effective low-cost and universally applicable approach.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"780745"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/780745","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30506731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 50
Neonatal cyanosis: diagnostic and management challenges. 新生儿紫绀:诊断和管理的挑战。
ISRN pediatrics Pub Date : 2011-01-01 Epub Date: 2010-12-29 DOI: 10.5402/2011/175931
A Izraelit, V Ten, G Krishnamurthy, V Ratner
{"title":"Neonatal cyanosis: diagnostic and management challenges.","authors":"A Izraelit,&nbsp;V Ten,&nbsp;G Krishnamurthy,&nbsp;V Ratner","doi":"10.5402/2011/175931","DOIUrl":"https://doi.org/10.5402/2011/175931","url":null,"abstract":"<p><p>Neonatal central cyanosis is always a sign of serious pathological processes and may involve diverse organs and impose a significant diagnostic and therapeutic challenge. Here, we report an unusual presentation of Ebstein's anomaly, a rare congenital heart malformation, as the cause of central cyanosis in a one-week-old full-term infant. Initiation of PEG(1) therapy in neonates with Ebstein's anomaly always needs a very careful consideration because of a high risk for the development of a \"circular shunt\" leading to severe deterioration of multiple organs perfusion.</p>","PeriodicalId":73521,"journal":{"name":"ISRN pediatrics","volume":"2011 ","pages":"175931"},"PeriodicalIF":0.0,"publicationDate":"2011-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.5402/2011/175931","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"30556936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
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