Journal of Inborn Errors of Metabolism and Screening最新文献_第7页

Physiotherapy for Children with CLN2 Disease CLN2患儿的物理治疗

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-jiems-2019-0009

Ina von Löbbecke

引用次数: 0

Leigh Syndrome Due to mtDNA Pathogenic Variants 由mtDNA致病变异引起的Leigh综合征

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-JIEMS-2018-0003

C. Pereira, C. D. Souza, L. Vedolin, F. Vairo, C. Lorea, C. Sobreira, C. Nogueira, L. Vilarinho

{"title":"Leigh Syndrome Due to mtDNA Pathogenic Variants","authors":"C. Pereira, C. D. Souza, L. Vedolin, F. Vairo, C. Lorea, C. Sobreira, C. Nogueira, L. Vilarinho","doi":"10.1590/2326-4594-JIEMS-2018-0003","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2018-0003","url":null,"abstract":"Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. It is genetically heterogeneous, causative mutations have been disclosed in mitochondrial DNA and nuclear genes involved in the process of energy production in the mitochondria. We investigated the whole mitochondrial DNA in three Brazilian patients with LS, based on their clinical and biochemical data, with the aim to identify the disease-causing mutations. In two of the patients, with complex I deficiency, a novel heteroplasmic variant m.4142G>T (p.R279L) in MT-ND1 and a recurrent homoplasmic mutation m.10197G>A (p.A47T) in MT-ND3 were identified. In the remaining patient, with complex IV deficiency, a de novo heteroplasmic variant in MT-CO1 m.6547T>C (p.L215P) was found. The molecular investigation in mitochondrial diseases have shifted their focus from mitochondrial DNA to nuclear DNA, however, mtDNA protein-coding genes are one of the important genetic causes of mitochondrial disorders for Leigh syndrome. This study expands the molecular and clinical spectrum associated with this disease.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"70 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86748309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common? 同型半胱氨酸尿的三个主要原因:CBS、cblC和MTHFR缺乏。他们有什么共同之处?

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-jiems-2019-0007

Giovana Regina Weber Hoss, Soraia Poloni, H. Blom, I. Schwartz

{"title":"Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?","authors":"Giovana Regina Weber Hoss, Soraia Poloni, H. Blom, I. Schwartz","doi":"10.1590/2326-4594-jiems-2019-0007","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2019-0007","url":null,"abstract":"Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], methylmalonic aciduria with homocystinuria, cblC type (cblC deficiency) and severe methylenetetrahydrofolate reductase (MTHFR) deficiency. In this review, we highlight the similarities and differences among these disorders. Briefly, their joint manifestation is the accumulation of tHcy, however, the other sulfur amino acids show various and even invers profiles. Vascular disease, developmental delay and seizures are found in all homocystinurias, nevertheless, the complications of CNS differ in a wide variety of presentations and severities and are apparently less pronounced in CBS deficiency. Moreover, patients with remethylation defects typically do not present ectopia lentis and bone disturbances, tall stature and osteoporosis. Whereas hematological alterations, such as megaloblastic anemia, thrombocytopenia neutropenia and life-threatening microangiopathy, are specific findings of cblC deficiency.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"293 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79667424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Toward a Core Outcome Set for Head, Neck, and Respiratory Disease in Mucopolysaccharidosis Type II: Systematic Literature Review and Assessment of Heterogeneity in Outcome Reporting 针对粘多糖病II型头颈部和呼吸系统疾病的核心结局集:系统文献综述和结果报告异质性评估

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-iem-18-0016

A. Metryka, N. Brown, J. Mercer, S. Wilkinson, Simon A. Jones, P. Williamson, I. Bruce

引用次数: 4

Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening 乌拉圭的罕见疾病:重点关注新生儿筛查异常的婴儿

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-JIEMS-2019-0002

M. Larrandaburu, F. Vianna, Karina Griot, C. Queijo, G. Monzón, C. Ugarte, L. Nacul, L. Schuler‐Faccini, M. Sanseverino

{"title":"Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening","authors":"M. Larrandaburu, F. Vianna, Karina Griot, C. Queijo, G. Monzón, C. Ugarte, L. Nacul, L. Schuler‐Faccini, M. Sanseverino","doi":"10.1590/2326-4594-JIEMS-2019-0002","DOIUrl":"https://doi.org/10.1590/2326-4594-JIEMS-2019-0002","url":null,"abstract":" Abstract Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase deficiency (MCADD), and Congenital Hearing Loss (CHL). Objetives: This study describe the epidemiological characteristics of newborns with abnormal neonatal screening tests diagnosed by blood drop and otoacoustic emissions in Uruguay. Results: Cases with abnormal NBS tests (399 newborns; 0.17%) were compared to the newborns with normal tests in the same period (239,240). Prevalence rates (per 10,000 livebirths) were 10.00 for CHL; 3.70 for CH; 1.20 for CF; 0.59 for CAH; 0.54 for PKU; 0.13 for MCADD. The Department of Artigas had the highest rate of abnormal tests. Lower maternal education, less prenatal care, increased prematurity rate and neonatal depression were more frequent in in mothers whose children had CHL. Conclusions: This is the first study evaluating the characteristics of newborns with abnormal screening in Uruguay. Because these results may impact the planning of health services, data transmission between clinical care and public health systems is needed to improve both follow-up and","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"15 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78277897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Linguistic Validation of the Phenylketonuria - Quality of Life (PKU-QOL) Questionnaire Into Brazilian Portuguese 苯丙酮尿-生活质量(PKU-QOL)问卷在巴西葡萄牙语中的语言验证

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2019-01-01 DOI: 10.1590/2326-4594-JIEMS-2018-0001

Fabíola Vicente, E. Jurecki, D. Giovannetti, A. Ferreira, Efigênia Leite, L. Giugliani, C. Acquadro

引用次数: 1

Arginine and citrulline for the treatment of MELAS syndrome. 精氨酸和瓜氨酸用于治疗 MELAS 综合征。

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2017-01-01 Epub Date: 2017-03-24 DOI: 10.1177/2326409817697399

Ayman W El-Hattab, Mohammed Almannai, Fernando Scaglia

引用次数: 0

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis. 新生儿筛查质量保证计划CFTR突变检测和基因测序鉴定囊性纤维化。

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2016-01-01 Epub Date: 2016-08-01 DOI: 10.1177/2326409816661358

Miyono M Hendrix, Stephanie L Foster, Suzanne K Cordovado

{"title":"Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.","authors":"Miyono M Hendrix, Stephanie L Foster, Suzanne K Cordovado","doi":"10.1177/2326409816661358","DOIUrl":"https://doi.org/10.1177/2326409816661358","url":null,"abstract":"All newborn screening laboratories in the United States and many worldwide screen for cystic fibrosis. Most laboratories use a second-tier genotyping assay to identify a panel of mutations in the CF transmembrane regulator (CFTR) gene. Centers for Disease Control and Prevention's Newborn Screening Quality Assurance Program houses a dried blood spot repository of samples containing CFTR mutations to assist newborn screening laboratories and ensure high-quality mutation detection in a high-throughput environment. Recently, CFTR mutation detection has increased in complexity with expanded genotyping panels and gene sequencing. To accommodate the growing quality assurance needs, the repository samples were characterized with several multiplex genotyping methods, Sanger sequencing, and 3 next-generation sequencing assays using a high-throughput, low-concentration DNA extraction method. The samples performed well in all of the assays, providing newborn screening laboratories with a resource for complex CFTR mutation detection and next-generation sequencing as they transition to new methods.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"4 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2016-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/2326409816661358","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"34784114","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