Journal of Inborn Errors of Metabolism and Screening最新文献_第2页

A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS) 巴西II型粘多糖病的回顾性研究——来自巴西卫生系统(DATASUS)的数据

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-01-01 DOI: 10.1590/2326-4594-jiems-2023-0003

Fernanda Tenório, Carolina Fischinger Moura de Souza

{"title":"A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)","authors":"Fernanda Tenório, Carolina Fischinger Moura de Souza","doi":"10.1590/2326-4594-jiems-2023-0003","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2023-0003","url":null,"abstract":"Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in Brazil from 2008 to 2020 and to describe demographic and clinical profiles from patients under treatment. The study population was derived from DATASUS records of MPS II (ICD-10 E76.1) diagnosed in Brazil. Initially 455 patients were found, but only 181 patients who were receiving idursulfase treatment were included in this study. Among these cases, as expected in a X-linked disease, all were males and 40% of the cases were recorded in the Southeast region, and another 34% in the Northeast region. The biggest proportion of patients (39%) were diagnosed when they were 10-19 years old. There are 212 clinical conditions associated with MPS II, although the main comorbidities related to MPSII include: abdominal/inguinal hernia, respiratory complications, and carpal tunnel syndrome. Respiratory disorders were the fifth most frequent comorbidity recorded in these patients. The healthcare professionals in Brazil more involved in the diagnosis of MPS II were radiologists, followed by geneticists and cardiologists. Despite some limitations, DATASUS is a relevant database to provide information on rare diseases such as MPS II. Most cases were reported in southeast and northeast regions, respectively. This information is crucial to help design targeted public policies.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"75 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136008473","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

Oromandibular Dystonia is a Prominent Feature in Patients with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency 下颌肌张力障碍是芳香l -氨基酸脱羧酶(AADC)缺乏症患者的一个突出特征

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-01-01 DOI: 10.1590/2326-4594-jiems-2023-0008

Helio van der Linden Jr., Christiane Cobas, Andre Felipe Pinto Duarte, Marcelo Rodrigues Masruha

引用次数: 0

Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina 2型神经性脑蜡样脂褐质病:阿根廷病例系列

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2022-0001

Guillermo Guelbert, N. Guelbert

引用次数: 0

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers 巴西食品苯丙氨酸含量参考指南:一项基于PKU患者和医疗服务提供者感知的研究

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2022-0002

Bruna Bento dos Santos, B. M. Oliveira, V. Monteiro, Soraia Poloni, Tássia Tonon, I. Schwartz

引用次数: 0

Advances and Challenges in Classical Galactosemia. Pathophysiology and Treatment 经典半乳糖血症的进展与挑战。病理生理与治疗

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0026

Amanda R. Caro N., V. Cornejo, J. Guevara-Morales, O. Y. Echeverri-Peña

引用次数: 2

Hearing Impairment in Mucopolysaccharidosis: A Systems Biology Approach 粘多糖病的听力损害:系统生物学方法

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0035

Gerda Cristal Villalba Silva, Ágnis Iohana Grefenhagen, Pâmella Borges, U. Matte

引用次数: 0

Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0028

R. Giugliani, S. Marques, Luis G. M. de Andrade, A. Pessoa, M. Vaisbich, Angélica Blum, Fernanda Tenório, N. S. Rosa Neto

引用次数: 1

CLN6 Variant of Late Infantile Neuronal Ceroid Lipofuscinosis Caused by a Homozygous Mutation: Case Report in Colombia 由纯合突变引起的晚期婴儿神经性神经样脂褐变CLN6变异:哥伦比亚病例报告

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2022-0006

Daniel Eduardo Manrique Hernandez, Diana Sánchez-Peñarete, S. Castellar-Leones, L. Cabarcas-Castro

引用次数: 0

Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study 粘多糖病的口咽吞咽困难:来自影像透视吞咽研究的证据

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2022-0004

L. Carneiro, C. F. Souza, R. Giugliani, S. Fagondes

引用次数: 0

Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh 孟加拉国苯丙酮尿症新生儿筛查和管理方案的现状和未来方向

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0024

A. Al-Bari

{"title":"Current Scenario and Future Direction of Newborn Screening and Management Program for Phenylketonuria in Bangladesh","authors":"A. Al-Bari","doi":"10.1590/2326-4594-jiems-2021-0024","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0024","url":null,"abstract":"Abstract Phenylketonuria (PKU) is a correctable inborn error of metabolism which causes lethal intellectual delay and neurobehavioral anomalies. A screening package, especially for early recognition can support to regulate the PKU process of most patients. New-born screening program in any country focuses at the earliest detection of inheritance deficiency disorders in order to avoid the most severe repercussion by appropriate medication. This screening program needs a concomitant diagnosis and involves additional clinical research. Strategies from developed countries recommend that new-born screening should be done as soon as possible after birth before hospital/clinic discharge because if detected later, it conveys to significantly increase in disability as well as morbidity. Although exact protocol differs among different countries, testing procedures for PKU should be followed universally recognized in the developed world. Unfortunately, new-born screening program in Bangladesh is in lying-in room or possibly in pilot study in particular hospital, because the health-care system is classically targeted mortality (like childbirth complications) and transmittable morbidities (such as COVID-19) but not inborn frailties. Although policies and management of childbirth complications have been successfully lowered infant and mother mortality rates, the number of disabled babies increased tremendously. The study aims to investigate the current status of new-born screening (NBS) program of PKU in the Rajshahi Division Bangladesh, and focus on future plans to manage with life-long treatment. The primary challenges such as financial support for newborn screening, publicity, should be identified and implemented for national PKU-NBS policy as a role model of Bangladesh for developing countries.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82906711","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: 1