Journal of Inborn Errors of Metabolism and Screening最新文献

Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey 巴西粘多糖病II型患者的临床概况:来自Hunter结果调查的亚组分析

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-09-01 DOI: 10.1590/2326-4594-jiems-2023-0002

D. Horovitz, Márcia G Ribeiro, A. X. Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani

{"title":"Clinical Profile Among Brazilian Mucopolysaccharidosis type II Patients: Subgroup Analysis from the Hunter Outcome Survey","authors":"D. Horovitz, Márcia G Ribeiro, A. X. Acosta, Ana C Monteiro, Jaco Botha, Roberto Giugliani","doi":"10.1590/2326-4594-jiems-2023-0002","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2023-0002","url":null,"abstract":"Mucopolysaccharidosis type II (MPS II) is a rare genetic, multiorgan disease. Little information about the Brazilian context is available to date; thus, this descriptive subgroup analysis was conducted on Brazilian data from the Hunter Outcome Survey (HOS), including clinical characteristics among MPS II patients from Brazil. HOS is a global, multi-center, long-term, observational registry of patients with MPS II (NCT03292887). Variables related to organ system involvement, signs and symptoms, surgical procedures and survival among Brazilian patients were extracted from HOS database. Data from 153 Brazilian patients with MPS II were analyzed. Musculoskeletal (96.6%), abdomen/gastrointestinal (95.2%), neurological (88.7%), pulmonary (86.2%), and ear (81.3%) were the most frequently observed organ/systems involved. Regarding signs and symptoms, the most prevalent symptom was coarse facial features consistent with the disease (94.6%), followed by joint stiffness and limited function (89.3%), hernia (84.2%) and hepatomegaly (82.2%). Median survival time was 22.0 years, and the major cause of death was respiratory failure (31.8%). These data may be helpful to understand disease characteristics and to help improve the quality of MPS II patient care in Brazil.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85333207","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

Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach 家族性乳糜微粒血症综合征:综合临床和遗传学方法

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-08-11 DOI: 10.1590/2326-4594-jiems-2023-0004

E. Esteban, D. Aimone

{"title":"Familial chylomicronemia syndrome: A comprehensive clinical and genetic approach","authors":"E. Esteban, D. Aimone","doi":"10.1590/2326-4594-jiems-2023-0004","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2023-0004","url":null,"abstract":"The familial chylomicronemia syndrome (FCS) is characterized by very high levels of circulating triglycerides. FCS is caused by lipoprotein lipase (LPL) deficiency resulting from homozygous or biallelic loss-of-function variants in the LPL or other related genes. Here, we report a case of severe hypertriglyceridemia refractory to conventional therapy in a male patient diagnosed at 33 years of age. LPL activity was below 20%. During the clinical course, the patient developed severe acute pancreatitis in addition to other complications. Two heterozygous variants (c.984G>A and c.1139+6T>C) which had not been previously reported in the major databases were identified in the LPL gene. Treatment with volanesorsen was proposed based on its approved indication as an adjunct to diet in adult patients with confirmed FCS and at high risk for pancreatitis. Volanesorsen was effective and well-tolerated, and the patient did not experience abdominal pain or any other manifestations. The assessment of genetic characterization is essential to guide treatment decisions during follow-up, in addition to the patient’s history, their comorbidities and clinical stigmas.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81659813","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

Characterization of the SRD5A3-CDG Clinical Spectrum SRD5A3-CDG临床谱的表征

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-07-21 DOI: 10.1590/2326-4594-jiems-2022-0010

Victor Daescu, D. Horton, Kimberly Goodspeed

{"title":"Characterization of the SRD5A3-CDG Clinical Spectrum","authors":"Victor Daescu, D. Horton, Kimberly Goodspeed","doi":"10.1590/2326-4594-jiems-2022-0010","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2022-0010","url":null,"abstract":"We aimed to characterize the clinical spectrum of patients diagnosed with SRD5A3-CDG, a subtype of congenital disorders of glycosylation (CDG) due to variants in the steroid 5a-reductase type 3 (SRD5A3) gene. It presents with multi-systemic involvement including neurological disability, dermatologic abnormalities, and ophthalmological defects. We conducted a cross-sectional study of children (n=6, ages 4-16 years) with a confirmed diagnosis of SRD5A3-CDG (c.57G>A, p.W19X). Families completed a detailed medical history questionnaire, two quality of life measures, and an adaptive behavior scale. Prevalent clinical features in our cohort included visual impairment (6/6), developmental delay (6/6), nystagmus (5/6), retinal dystrophy (4/6), and hypotonia (3/6). The Vineland Adaptive Behavior Scales demonstrated deficits across all functional domains (Composite Mean 36.17 ± 26.88), although one child did not show significant deficits. The QI-Disability Form demonstrated a mean total score of 64.8 (±12.7), and the PedsQL-Family Impact Module demonstrated a mean total score of 56.5 (±31.5). Vineland composite scores did not correlate with levels of disability captured by the QI-Disability Form (Pearson Correlation range -0.63 to +0.69, p>0.05 on all subscales). Ultimately, despite genotypic homogeneity, there is notable variability in adaptive functioning and quality of life among affected children that does not correlate with age.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75535227","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

Assessing small fiber neuropathy and subtle cardiac involvement in Fabry disease 法布里病小纤维神经病变及轻微心脏受累的评估

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-06-30 DOI: 10.1590/2326-4594-jiems-2023-0001

C. Braune, F. Souza, A. Nucera, Kelma Macedo Pohlmann Simões, Andre Bertola Vanzan Filho, J. Nunes, Maria Angelica de Faria Domingues de Lima

引用次数: 0

Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years’ Experience 古巴新生儿囊性纤维化筛查项目:三年经验

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-06-05 DOI: 10.1590/2326-4594-jiems-2022-0012

E. Castells, A. Sánchez, Amarilys Frómeta, Yanin Moksde, Eladio Silva, Nelson Ozunas, Tania Licourt, Ana L. Arteaga, Teresa Collazo, Fidel Rodríguez, O. Martín, Maryeris Espinosa, L. Río, P. L. Pérez, Greilys Morejón, C. Almira, Z. Ñuñez, A. Melchor, E. C. González

{"title":"Newborn Screening Program for Cystic Fibrosis in Cuba: Three Years’ Experience","authors":"E. Castells, A. Sánchez, Amarilys Frómeta, Yanin Moksde, Eladio Silva, Nelson Ozunas, Tania Licourt, Ana L. Arteaga, Teresa Collazo, Fidel Rodríguez, O. Martín, Maryeris Espinosa, L. Río, P. L. Pérez, Greilys Morejón, C. Almira, Z. Ñuñez, A. Melchor, E. C. González","doi":"10.1590/2326-4594-jiems-2022-0012","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2022-0012","url":null,"abstract":"In Cuba, newborn screening (NBS) for cystic fibrosis (CF) was introduced in January 2019. The results from the first three years of the CF NBS program are presented. An IRT/IRT protocol was followed using a cut-off value of 50 ng/mL. In this period 281,717 neonates were screened, 2,197 samples had increased IRT values, and a second sample was necessary (recall rate=0.78%). In 686 (0.24%) neonates, IRT was still elevated, and they were referred for clinical evaluation. Twenty-one children were confirmed by sweat test and molecular biology. Eighteen newborns presented variant F508del. A false negative case was reported. Demographic data of 32,764 neonates were collected. The average age of sampling was six days with results available at 11 days of life, but 1.7% of the samples were collected 20 days after birth. The mean IRT value was 12.7±11.7 ng/mL (ranging 0–283 ng/mL) with a calculated 98.5 percentile value of 42.4 ng/mL. On average, the samples were processed five days after collection and two days after they were received at the laboratory. Although CF NBS program in Cuba is just beginning, it can be predicted that CF will be one of the most frequent inherited-metabolic diseases in the Cuban population.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"227 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78038406","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

Expected Benefits and Challenges of Using Economic Evaluations to Make Decisions About the Content of Newborn Screening Programs in Vietnam: A Scoping Review of the Literature 使用经济评估来决定越南新生儿筛查项目内容的预期收益和挑战:文献综述

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-05-08 DOI: 10.1590/2326-4594-jiems-2022-0011

Van Hoa Ho, Y. Giguère, D. Reinharz

引用次数: 0

Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan 糖营养不良症:由α-糖营养不良蛋白o糖基化改变引起的肌营养不良症的遗传基础

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-04-17 DOI: 10.1590/2326-4594-jiems-2022-0005

M.A. Cubilla, G. M. Papazoglu, C. Asteggiano

引用次数: 1

Frequency of F508del Variant in Patients with Cystic Fibrosis from Paraguay 巴拉圭囊性纤维化患者F508del变异的频率

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-03-31 DOI: 10.1590/2326-4594-jiems-2022-0007

Celeste Vega, Dahiana Espínola, M. Ascurra, Stefanía Fraenkel, Adriana Valenzuela, L. Ortíz

引用次数: 0

Hurler Syndrome: a Biochemically Confirmed Case in Dominican Republic 多明尼加共和国赫勒症候群的生化确诊病例

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-03-31 DOI: 10.1590/2326-4594-jiems-2022-0008

Kimberly Baez-Nicodemo, I. Ortiz, Noemi Acevedo

引用次数: 0

Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA MALDI-TOF质谱法在粘多糖病无创诊断中的应用

Journal of Inborn Errors of Metabolism and Screening Pub Date : 2023-02-06 DOI: 10.1590/2326-4594-jiems-2022-0009

Filip Pančík, Z. Pakanová, M. Nemčovič, Filip Květoň, A. Šalingová, A. Hlavatá, S. Kozmon, Peter Baráth

{"title":"Application of MALDI-TOF Mass Spectrometry for Non-invasive Diagnostics of Mucopolysaccharidosis IIIA","authors":"Filip Pančík, Z. Pakanová, M. Nemčovič, Filip Květoň, A. Šalingová, A. Hlavatá, S. Kozmon, Peter Baráth","doi":"10.1590/2326-4594-jiems-2022-0009","DOIUrl":"https://doi.org/10.1590/2326-4594-jiems-2022-0009","url":null,"abstract":"Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) caused by deficiency of lysosomal N -sulphoglucosamine sulphohydrolase, which is one of four enzymes involved in heparan sulfate degradation. Traditional methods used for MPS IIIA diagnostics usually constitute of selective screening, based on the analysis of urinary glycosaminoglycans, further enzymatic assays in leukocytes, and mutation analysis. Nowadays, some LSDs, including mucopolysaccharidoses, can be precisely diagnosed by mass spectrometry-based techniques. Up to this date, there are no comprehensive studies of MPS IIIA diagnostics by MALDI-TOF analysis of free oligosaccharides in urine published. In the presented work, MALDI-TOF/TOF analysis of permethylated oligosaccharides was performed to obtain the set of glyco-biomarkers that together form the specific fingerprint of this disease. Early and accurate diagnostics of MPS IIIA is crucial to stabilize the progressive cellular damage and improve the overall well-being of patients.","PeriodicalId":56346,"journal":{"name":"Journal of Inborn Errors of Metabolism and Screening","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84103856","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