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

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

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

Alpha-Galactosidase A Levels in Colombian Males with End-Stage Renal Disease: Ten Years of Selective Screening in Dried Blood Spots 哥伦比亚男性终末期肾病患者α -半乳糖苷酶A水平:干血斑10年选择性筛查

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0033

Jesus Alfredo Uribe-Ardila, John Freddy Gamba-Rendon

引用次数: 1

Efficacy and Safety of Taliglucerase Alfa for the Treatment of Gaucher Disease: A 9-Year Experience Taliglucerase Alfa治疗戈谢病的疗效和安全性:9年的经验

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2021-0031

Livia d’Avila Paskulin, R. Starosta, F. Vairo, B. Krug, P. Picon, I. Schwartz

引用次数: 1

Spinal cord occupation ratio (SCOR) and its application in the diagnosis of cervical spinal cord compression in Mucopolysaccharidoses 脊髓占据比(SCOR)及其在粘多糖病颈脊髓压迫诊断中的应用

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2022-01-01 DOI: 10.1590/2326-4594-jiems-2022-0003

Julia Valeriano de Almeida, A. Barth, Alessandra Augusta Penna e Costa, D. Horovitz

引用次数: 0

25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias 智利苯丙酮尿和高苯丙氨酸血症患者羟基维生素D水平、骨骼健康、维生素D和钙摄入量

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-08-09 DOI: 10.1590/2326-4594-jiems-2021-0004

C. Leiva, P. Bravo, C. Arias, J. Cabello, M. J. Leal-Witt, F. Salazar, V. Cornejo

{"title":"25 Hydroxy Vitamin D Level, Bone Health, Vitamin D and Calcium Intake in Chilean Patients with Phenylketonuria and Hyperphenylalaninemias","authors":"C. Leiva, P. Bravo, C. Arias, J. Cabello, M. J. Leal-Witt, F. Salazar, V. Cornejo","doi":"10.1590/2326-4594-jiems-2021-0004","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0004","url":null,"abstract":"Abstract It has been shown that there is a decrease in the concentrations of 25 hydroxyvitamin D (25-OHD) and bone mineral density (BMD) in patients with phenylketonuria (PKU) in their follow-up. Our objective was to determine concentrations of 25-OHD in subjects with PKU and hyperphenylalaninemia (HPA). Transversal analytical study considered three groups: G1-PKU with neonatal diagnosis and formula intake without Phe; G2-HPA, without specific treatment and G3-C control group. Sixteen patients per group (aged 6-23) were included. Levels of 25-OHD, lumbar spine (L2-L4), femur and total BMD, intact parathormone (PTH) and vitamin D (VitD) and calcium intake were calculated. The Kruskal-Wallis statistical test was applied (p-value 30 ng/mL). G1-PKU had a higher intake of VitD, with differences among groups. There were no significant differences among groups in relation to BMD and intact PTH. In conclusion, G1-PKU under treatment and with good adherence, does not present VitD deficiency and no BMD alterations are observed. In contrast, G2-HPA had a lower intake of VitD and decreased 25-OHD concentrations which could affect the bone architecture in the long term. Further studies on the G2-HPA are suggested.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"20 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76495265","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