Journal of Inborn Errors of Metabolism and Screening最新文献_第5页

Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort 阿根廷线粒体疾病队列的分子诊断

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0020

Nerina Martinez, J. Rosales, N. Medina, Josefina Pérez-Maturo, V. Salinas, L. Zavala, P. Vega, S. Rodríguez-Quiroga, D. Morón, M. Kauffman

引用次数: 0

Spatial Distribution of Congenital Disorders Diagnosed by the Newborn Screening Program in Ecuador 厄瓜多尔新生儿筛查项目诊断先天性疾病的空间分布

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2020-0016

Juan Pozo-Palacios, Génesis García-Díaz, F. Cruz, Fabián Porras, Jessica Heras, Eder Cano-Pérez

引用次数: 1

Clinical and Radiological Characterisation of Patients with Mucopolysaccharidosis in a Genetic Clinic 遗传诊所粘多糖病患者的临床和影像学特征

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0008

P. Swetha, I. Panigrahi, A. Saxena, A. Kaur, Rozy Thakur

引用次数: 0

Inherited Metabolic Diseases as a Multisystem Model of Mental Disorders Research 遗传代谢性疾病作为精神障碍研究的多系统模型

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0015

G. Rukavishnikov, E. Kasyanov, T. Zhilyaeva, N. Neznanov, G. Mazo

引用次数: 2

Differences in Newborn Screening Results Among Women with Gestational Diabetes Mellitus 妊娠期糖尿病妇女新生儿筛查结果的差异

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0013

Jane Estrella, V. Wiley, J. Immanuel, D. Simmons

引用次数: 0

Editorial Letter to the Special Issue on Newborn Screening in Latin America (Commemorating the Silver Jubilee of the Latin American Society for Inborn Errors of Metabolism and Neonatal Screening - SLEIMPN) 《拉丁美洲新生儿筛查特刊》的社论信(纪念拉丁美洲先天性代谢错误和新生儿筛查学会成立五十周年)

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0023

G. Queiruga, G. Borrajo, V. Cornejo

引用次数: 1

Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series 儿童和青少年粘多糖病的功能描述-病例系列

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2020-01-01 DOI: 10.1590/2326-4594-jiems-2019-0010

A. M. Fleming, C. T. Ribeiro, D. Horovitz, Luciana Castaneda Ribeiro, Ana Paula Carvalho Corrêa

{"title":"Description of Functioning in Children and Adolescents with Mucopolysaccharidosis - Case series","authors":"A. M. Fleming, C. T. Ribeiro, D. Horovitz, Luciana Castaneda Ribeiro, Ana Paula Carvalho Corrêa","doi":"10.1590/2326-4594-jiems-2019-0010","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2019-0010","url":null,"abstract":"Introduction: Rare health conditions as mucopolysaccharidoses (MPS) can directly influence functioning experiences. Mobility restriction, osteoarticular alterations, leads to delayed neuropsychomotor development are some of the negative impacts of MPS. Aims: The purpose of this study is to evaluate the functioning of children with MPS, from the International Classification of Functioning, Disability, and Health (ICF) perspective. Methodology: It is a case series study with a sample of 15 children and adolescents with MPS with a median age of 12 years, followed in a tertiary hospital in Rio de Janeiro, Brazil. Results: The patients were assessed by the model ICF and results were as following: regarding body functions, most categories presented slight impairment. For mobility of joints and gait, the impairment was severe. Activity and participation with most significant limitations were “learning to read/write”, “read/write”, “listening” and “performing multiple tasks.” In self-care, the main limitations were in “drinking”, “taking care of body parts” and “taking care of one’s health.” Also, there were restrictions on “doing household tasks”, “basic economic transactions”, “community living” and “religion and spirituality”. Conclusion: MPS can have a significant impact in different body systems which act as limiting activities that require body mobility.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"135 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86294589","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: 0

Perthes-Like Disease Masquerading Non-Classical MPS 伪装成非典型MPS的珀塞斯样疾病

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2020-01-01 DOI: 10.1590/2326-4594-jiems-2020-0003

C. Souza, A. C. Siqueira, Natália S. Antunes, D. Horovitz, J. Politei, C. Lourenço, M. J. R. Doriqui, Débora Lima Souza, M. Galera, Leonardo Cury Abrahão, M. Matos, P. Mendes, T. Magalhães

{"title":"Perthes-Like Disease Masquerading Non-Classical MPS","authors":"C. Souza, A. C. Siqueira, Natália S. Antunes, D. Horovitz, J. Politei, C. Lourenço, M. J. R. Doriqui, Débora Lima Souza, M. Galera, Leonardo Cury Abrahão, M. Matos, P. Mendes, T. Magalhães","doi":"10.1590/2326-4594-jiems-2020-0003","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0003","url":null,"abstract":"Mucopolysaccharidoses (MPS) are inborn errors of metabolism caused by deficient lysosomal enzymes, leading to organomegaly, hip osteonecrosis, coarse facial features, bone deformities, joint stiffness, cardiac and pulmonary symptoms (MPS VI) or hypermobility (MPS IVA). Some patients may present with non-classical forms of the disease in which osteoarticular abnormalities are the initial symptoms of non-classical forms. As orthopedists and surgeons are the specialists most frequently consulted before the diagnosis, it is critical that MPS may be considered as a differential diagnosis for patients with bone dysplasia. Experts in Latin America reviewed medical records focusing on disease onset, first symptoms and the follow-up clinical and surgical outcomes of non-classical MPS VI and IVA patients. All patients displayed orthopedic issues, which worsened over time, followed by cardiac and ophthalmological abnormalities. Our findings enlighten the necessity of including non-classical MPS as possible diagnosis for patients who report osteoarticular abnormalities in absence of inflammation.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"38 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91316408","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: 0

Obituary: Toshiyuki Fukao (1961-2020), a friend of the Latin American IEM community 讣告:深尾俊之(1961-2020)，拉丁美洲IEM社区的朋友

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2020-01-01 DOI: 10.1590/2326-4594-jiems-2020-08-01

H. Ida

引用次数: 0

Sanfilippo Syndrome: The Tale of a Challenging Diagnosis 圣菲利波综合症:一个具有挑战性的诊断故事

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2020-01-01 DOI: 10.1590/2326-4594-jiems-2020-0005

G. Baldini, José Fernando Palmejiani, J. B. Sant'Anna, Z. Carneiro, R. Giugliani, C. Pereira, C. Cozma, C. O’Neill, C. Lourenço

{"title":"Sanfilippo Syndrome: The Tale of a Challenging Diagnosis","authors":"G. Baldini, José Fernando Palmejiani, J. B. Sant'Anna, Z. Carneiro, R. Giugliani, C. Pereira, C. Cozma, C. O’Neill, C. Lourenço","doi":"10.1590/2326-4594-jiems-2020-0005","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2020-0005","url":null,"abstract":"Sanfilippo syndrome or mucopolysaccharidosis III (MPS III), includes a group of four autosomal recessive lysosomal storage disorders caused by deficient activity of enzymes involved in the catabolism of heparan sulfate. The four types of MPS III are recognized in accordance with the deficient enzyme, resulting in the accumulation of heparan sulfate with particularly deleterious effects in the central nervous system. The incidence of MPS III remains to be established in Latin American countries. We describe the journey of a patient with MPS IIIB whom, even in the presence of speech delay and deterioration, behavioral problems and motor incoordination, showed unaltered urinary glycosaminoglycans (GAGs) levels. An investigation for MPS was undertaken and enzyme analysis indicated a deficiency of alpha-N-acetylglucosaminidase, leading to the diagnosis of MPS IIIB. With the correct diagnosis, the patient’s symptoms could be properly managed, and the parents received appropriate genetic counseling. The present case report reinforces the need of investigating MPS III in patients with language delay and/or regression, neurological impairment and behavioral alterations, even when urinary GAGs are within normal range. A definitive diagnosis ends the diagnostic journey and enables the medical team and family to provide a better care for the child.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"97 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83888475","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: 2