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Medium-chain acyl-CoA dehydrogenase deficiency: prevalence of ACADM pathogenic variants c.985A>G and c.199T>C in a healthy population in Rio Grande do Sul, Brazil

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Reproductive and Developmental Medicine 2022年第2期6卷 92-97页

作者： Mariana Lopes dos Santos Devora Natalia Randon Fernanda Hendges de bitencourt Fernanda Sperb-Ludwig Fernanda Sales Luiz Vianna Carmen Regia Vargas Angela Sitta ida Vanessa Doederlein Schwartz Postgraduate Program in Medicine:Medical Sciences(PPGCM) Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil Laboratory of Basic Research and Advanced Investigations in Neurosciences(BRAIN) Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil INaGEMP Instituto Nacional de Genetica Medica PopulacionalHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Laboratory of Genomic Medicine Experimental Research ServiceHospital de Clinicas de Porto AlegrePorto AlegreRSBrazil Servico de Genetica Medica(SGM) Hospital de Clinicas de Porto AlegrePortoAlegreRSBrazil Genetics Department Universidade Federal do Rio Grande do Sul(UFRGS)Porto AlegreRSBrazil

Objectives::To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil. Methods::This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg ***::The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not ***::Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.

关键词： ACADM Medium-chain acyl-CoA dehydrogenase deficiency Sudden unexpected death in infancy

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Ferric carboxymaltose for anemia in Crohn’s disease patients at a tertiary center:A retrospective observational cohort study

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World journal of Clinical Cases 2023年第12期11卷 2740-2752页

作者： Natália Souza Nunes Siqueira Livia bitencourt Pascoal Bruno Lima Rodrigues Marina Moreira de Castro Alan Sidnei Corrêa Martins Dante Orsetti Silva Araújo Luis Eduardo Miani Gomes Michel Gardere Camargo Maria de Lourdes Setsuko Ayrizono Raquel Franco Leal Inflammatory Bowel Disease Research Laboratory GastrocenterColorectal Surgery UnitSchool of Medical SciencesUniversity of Campinas(Unicamp)Campinas 13083-878São PauloBrazil

BACKGROUND Although the gastrointestinal tract is the most affected by Crohn’s disease(CD),the condition triggers other consequent manifestations,and iron deficiency anemia(ida)is one of the most ***(IV)iron replacement is currently available through several drugs,such as ferric hydroxide sucrose and ferric carboxymaltose(FCM).However,the clinical management of these conditions can be *** To elucidate the drug’s effectiveness,the present study analyzed,through medical records,the clinical and epidemiological data of a cohort of patients with active CD who received IV FCM for the ida *** This retrospective observational study included 25 patients with active CD,severe anemia,and refractory to previous conventional *** were evaluated two times:During the last treatment with ferric hydroxide sucrose and treatment with *** After treatment with FCM,parameters of ida assessment significantly improved,serum hemoglobin(Hb)levels increased in 93%of patients(Pida in CD patients,achieving satisfactory results in refractory cases.

关键词： Ferric carboxymaltose Iron deficiency anemia Crohn’s disease Inflammatory bowel disease Anemia Clinical management

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