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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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Computed tomography-guided percutaneous core needle biopsy in pancreatic tumor diagnosis

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World Journal of Gastroenterology 2015年第12期21卷 3579-3586页

作者： Chiang J Tyng Maria fernanda A Almeida Paula NV Barbosa Almir GV bitencourt José Augusto AG Berg Macello S Maciel Felipe JF Coimbra Luiz Henrique O Schiavon Maria Dirlei Begnami Marcos D Guimares Charles E Zurstrassen Rubens Chojniak department of Imaging AC Camargo Cancer Center S?o Paulo department of Abdominal Surgery AC Camargo Cancer Center S?o Paulo

AIM: To evaluate the techniques, results, and complications related to computed tomography(CT)-guided percutaneous core needle biopsies of solid pancreatic ***: CT-guided percutaneous biopsies of solid pancreatic lesions performed at a cancer reference center between January 2012 and September 2013 were retrospectively analyzed. Biopsy material was collected with a 16-20 G Tru-Core needle(10-15 cm; Angiotech, Vancouver, CA) using a coaxial system and automatic biopsy gun. When direct access to the lesion was not possible, indirect(transgastric or transhepatic) access or hydrodissection and/or pneumodissection maneuvers were used. Characteristics of the patients, lesions, procedures, and histologic results were recorded using a standardized form. RESULTS: A total of 103 procedures included in the study were performed on patients with a mean age of 64.8 year(range: 39-94 year). The mean size of the pancreatic lesions was 45.5 mm(range: 15-195 mm). Most(75/103, 72.8%) procedures were performed via direct access, though hydrodissection and/or pneumodissection were used in 22.2%(23/103) of cases and indirect transhepatic or transgastric access was used in 4.8%(5/103) of cases. Histologic analysis was performed on all biopsies, and diagnoses were conclusive in 98.1%(101/103) of cases, confirming3.9%(4/103) of tumors were benign and 94.2%(97/103) were malignant; results were atypical in 1.9%(2/103) of cases, requiring a repeat biopsy to diagnose a neuroendocrine tumor, and surgical resection to confirm a primary adenocarcinoma. Only mild/moderate complications were observed in 9/103 patients(8.7%),and they were more commonly associated with biopsies of lesions located in the head/uncinate process(n =8), than of those located in the body/tail(n = 1) of the pancreas, but this difference was not ***: CT-guided biopsy of a pancreatic lesion is a safe procedure with a high success rate, and is an excellent option for minimally invasive diagnosis.

关键词： Computed tomography Image-guided biopsy Large-core

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