Journal of Inborn Errors of Metabolism and Screening最新文献_第3页

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

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

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

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

How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity? 当保存在不理想和不受控制的温度和湿度条件下，剩余的新生儿筛查标本对重新检测有用多长时间?

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-07-02 DOI: 10.1590/2326-4594-jiems-2021-0010

G. Borrajo, V. Doña

{"title":"How Long are Residual Newborn Screening Specimens Useful for Retesting when Stored in Suboptimal and Uncontrolled Conditions of Temperature and Humidity?","authors":"G. Borrajo, V. Doña","doi":"10.1590/2326-4594-jiems-2021-0010","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2021-0010","url":null,"abstract":"Abstract Residual DBS specimens from newborns diagnosed with Phenylketonuria, Congenital Hypothyroidism, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Galactosemia collected within 1995-2018, stored in cardboard boxes at ambient temperature in uncontrolled conditions, were retested for phenylalanine (Phe), thyrotropin (TSH), immunoreactive trypsinogen (IRT), total galactose (TGal) and 17-hydroxyprogesterone (17OHP), to demonstrate how long are they stable in these conditions and useful to reconfirm a previous abnormal result. Recovery percentage at retesting and qualitative interpretation regarding the current cutoff were evaluated. Phe, TSH and IRT recoveries showed decreasing trends along time. Phe recovery was 64 % after 2-years storage; TSH decayed rapidly recovering 47.3 % at 1-year, while IRT showed recoveries of 60 % at 1-year. Although 17OHP recovery presented a wide variation of results, a decaying trend was also found. Results suggest 17OHP is more stable than TSH and IRT, as supported by recoveries > 71 % when stored ≤ 2-years. TGal recovery presented an erratic behavior, so that it was not possible to estimate expected concentrations as a function of storage time. TGal recoveries above 100 % were found in UDP-galactose-4-epimerase and galactose-1-phosphate uridyltransferase deficiencies, evidencing possible galactose liberation from other sources. These results make a very valuable contribution for programs storing residual DBS in uncontrolled conditions.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"21 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2021-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85606303","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

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile 智利一家先天性代谢错误专科中心随访24例1型戊二酸尿患者的临床和营养演变

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0007

C. Arias, I. Hidalgo, María Florencia Salazar, J. Cabello, F. Peñaloza, P. Peredo, A. Valiente, Karen Fuenzalid, Patricio Guerrero, Verónica Cornej

引用次数: 0

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia 哥伦比亚圣菲利波B型患者和对照人群α - n -乙酰氨基葡萄糖酶活性参考值的测定

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-JIEMS-2020-0023

J. Borda, Alfredo Uribe-Ardila

引用次数: 0

Platelet Membrane Glycoprofiling in a PMM2-CDG Patient PMM2-CDG患者的血小板膜糖谱分析

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2020-0030

G. M. Papazoglu, S. Ruiz, R. Salinas, M.I. Pereira, M.A. Cubilla, F. Pesaola, S. Ghione, N. Ramadán, I. Martínez-Duncker, C. Asteggiano

引用次数: 2

Website www.emergencyprotocol.net to Support Prevention of Metabolic Emergencies in Patients with Hepatic Glycogen Storage Diseases and Fatty Acid Oxidation Disorders 网站www.emergencyprotocol.net支持预防肝糖原储存病和脂肪酸氧化障碍患者的代谢紧急情况

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0025

C. Souza, B. M. Oliveira, I. Schwartz, T. Derks

引用次数: 0

Determination of the Population Allelic Frequency of the Variants of the MPS Complex in Southwestern Colombia 哥伦比亚西南部MPS复合体变体群体等位基因频率的测定

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2021-01-01 DOI: 10.1590/2326-4594-jiems-2021-0021

L. Giraldo, J. Satizabal, Adalberto Sánchez Gómez

引用次数: 0