Browsing by Author "Cofre, Colomba"

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    International Latin American Survey on Pediatric Intestinal Failure Team
    (2021) Spolidoro, Jose Vicente N.; Souza, Mirella C.; Goldani, Helena A. S.; Tanzi, Maria N.; Busoni, Veronica B.; Padilla, Maria del Carmen; Ramirez, Nelson E.; Cofre, Colomba; Valdivieso, Lidia P.; Saure, Carola; Jimenez-Arguedas, Gabriela; Mateus, Mikaelle S. M.; Serra, Roberta; Cuadros-Mendonza, Carlos; Rivera-Medina, Juan; Gattini, Daniela; dos Santos, Beatriz J.; Plata, Clara; Sandy, Natascha Silva
    There is little data on the experience of managing pediatric Intestinal Failure (IF) in Latin America. This study aimed to identify and describe the current organization and practices of the IF teams in Latin America and the Caribbean. An online survey was sent to inquire about the existence of IF teams that managed children on home parenteral nutrition (HPN). Our questionnaire was based on a previously published European study with a similar goal. Twenty-four centers with pediatric IF teams in eight countries completed the survey, representing a total number of 316 children on HPN. The median number of children on parenteral nutrition (PN) at home per team was 5.5 (range 1-50). Teams consisted of the following members: pediatric gastroenterologist and a pediatric surgeon in all teams, dietician (95.8%), nurse (91.7%), social worker (79.2%), pharmacist (70.8%), oral therapist (62.5%), psychologist (58.3%), and physiotherapist (45.8%). The majority of the centers followed international standards of care on vascular access, parenteral and enteral nutrition, and IF medical and surgical management, but a significant percentage reported inability to monitor micronutrients, like vitamins A (37.5%), E (41.7%), B1 (66.7%), B2 (62.5%), B6 (62.5%), active B12 (58.3%); and trace elements-including zinc (29.2%), aluminum (75%), copper (37.5%), chromium (58.3%), selenium (58.3%), and manganese (58.3%). Conclusion: There is wide variation in how IF teams are structured in Latin America-while many countries have well-established Intestinal rehabilitation programs, a few do not follow international standards. Many countries did not report having an IF team managing pediatric patients on HPN.
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    Phenotype and genotype of thiopurine methyltransferase in Chilean individuals
    (SOC MEDICA SANTIAGO, 2012) Jorquera, Andres; Solari, Sandra; Vollrath, Valeska; Guerra, Irene; Chianale, Jose; Cofre, Colomba; Kalergis, Alexis; Ibanez, Patricio; Bueno, Susan; Alvarez Lobos, Manuel
    Background: Thiopurines (azathioprine and 6-mercaptopurine) are highly effective medications but with potential adverse effects. Thiopurine methyltransferase (TMPT) is the key enzyme in their pharmacokinetics and is genetically regulated. A low activity of TPMT is associated with myelotoxicity. The genotype and enzyme activity can vary by ethnicity. Aim: To study the activity and genotype of TPMT in a group of Chilean subjects. Material and Methods: In 200 healthy adult blood donors, TPMT activity was determined by high performance liquid chromatography (HPLC). Deficient, low, normal or high levels were defined when enzymatic activity was <= 5, 6-24, 25-55 and >= 56 nmol/grHb/h, respectively. Genotyping of TPMT ((star)1, (star)2, (star)3A, (star)3B, (star)3C) was performed by PCR. Results: Seventy seven women (38.5%) and 123 men (61.5%), with an average age of 34.9 years were studied. Eighteen subjects (9%) had a low enzymatic activity, 178 (89%) had normal activity, 4 (2%) had high activity and no genotype deficient subjects were identified. The wild type genotype ((star)1) was found in 184 (92%) individuals and 16 (8%) were heterozygous for the variants: (star)2 (n = 2), (star)3A (n = 13) and (star)3C (n = 1). No homozygous subjects for these variants were identified. Wild type genotype had an increased enzymatic activity (40.8 +/- 7.2 nmol/gHb/h) compared to heterozygous group (21.2 +/- 3 nmol/gHb/h; p < 0.001). Conclusions: Less than 10% of a Chilean population sample has a low enzymatic activity or allelic variants in the TPMT gene, supporting the use of thiopurines according to international recommendations. (Rev Med Chile 2012; 140: 889-895).