THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
11 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 11
- A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families(2013) GIUFFRIDA, Fernando M. A.; CALLIARI, Luis Eduardo; MANNA, Thais Della; FERREIRA, Joao Guimaraes; SADDI-ROSA, Pedro; KUNII, Ilda S.; FURUZAWA, Gilberto K.; DIAS-DA-SILVA, Magnus R.; REIS, Andre F.Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously described, reinforcing the worldwide prevalence of GCK MODY and widespread existence of undetected new mutations.
- Translation and validation of Pediatric Quality of Life Inventory (TM) 3.0 Diabetes Module (PedsQL (TM) 3.0 Diabetes Module) in Brazil-Portuguese language(2018) GARCIA, Leila F. dos S.; MANNA, Thais Della; PASSONE, Caroline de Gouveia Buff; OLIVEIRA, Lygia Spassapan deObjective: The aim of the present study was to create a translated version of the Pediatric Quality of Life Inventory (TM) 3.0 Diabetes Module (PedsQL (TM) 3.0 Diabetes Module) in Brazilian Portuguese that was conceptually equivalent to the original American English version and to linguistically validate it in a Brazilian pediatric population with type 1 diabetes mellitus and their parents or caregivers. Methods: The instrument was translated, back-translated, and then administered to 83 children/adolescents (5-18 years) with type 1 diabetes mellitus and their family members and to 25 parents/caregivers of patients aged between 2 and 4 years. The final translated version was tested for reliability by analyzing internal consistency, intraobserver (test-retest) reliability, and concurrent validity. Results: Cronbach's alpha coefficient for the total score of the questionnaires of children/adolescents (alpha = 0.85) and their parents (alpha = 0.82) was above the recommended minimum of 0.70 for group comparisons. Intraobserver reliability and concurrent validity exhibited a significant positive correlation (p < 0.001), indicating the reliability of the translated instrument. A moderate but significant positive correlation (r = 0.40; p < 0.001) was demonstrated between the total scores of patient self-report and parent proxy-report scales. There was no significant correlation between glycated hemoglobin (HbA1c) levels and the respective scores in the questionnaires answered by patients and their parents/caregivers. Conclusion: The analysis of the translated version of the PedsQL (TM) 3.0 Diabetes Module revealed adequate psychometric characteristics with respect to reliability and validity following administration to a sample of Brazilian children/adolescents with type 1 diabetes mellitus and their caregivers. (C) 2018 Sociedade Brasileira de Pediatria.
- Health-related quality of life in patients with type 1 diabetes mellitus in the different geographical regions of Brazil: data from the Brazilian Type 1 Diabetes Study Group(2015) FELICIO, Joao Soares; SOUZA, Ana Carolina Contente Braga de; KOURY, Camila Cavalcante; ABRAHAO NETO, Joao Felicio; MILEO, Karem Barbosa; SANTOS, Flavia Marques; MOTTA, Ana Regina Bastos; SILVA, Denisson Dias; ARBAGE, Thais Pontes; CARVALHO, Carolina Tavares; BRITO, Hana Andrade de Rider; YAMADA, Elizabeth Sumi; COBAS, Roberta Arnoldi; MATHEUS, Alessandra; TANNUS, Lucianne; PALMA, Catia Cristina Sousa; JAPIASSU, Leticia; CARNEIRO, Joao Regis Ivar; RODACKI, Melanie; ZAJDENVERG, Lenita; ARAUJO, Neuza Braga Campos de; CORDEIRO, Marilena de Menezes; LUESCHER, Jorge Luiz; BERARDO, Renata Szundy; NERY, Marcia; CANI, Catarina; MARQUES, Maria do Carmo Arruda; CALLIARI, Luiz Eduardo; NORONHA, Renata Maria de; MANNA, Thais Della; SAVOLDELLI, Roberta; PENHA, Fernanda Garcia; FOSS, Milton Cesar; FOSS-FREITAS, Maria Cristina; PIRES, Antonio Carlos; ROBLES, Fernando Cesar; NEGRATO, Carlos Antonio; GUEDES, Maria de Fatima; DIB, Sergio Atala; DUALIB, Patricia; SILVA, Saulo Cavalcanti da; SEPULVEDA, Janice; SAMPAIO, Emerson; REA, Rosangela Roginski; FARIA, Ana Cristina Ravazzani de Almeida; TSCHIEDEL, Balduino; LAVIGNE, Suzana; CARDOZO, Gustavo Adolfo; AZEVEDO, Mirela; CANANI, Luis Henrique; ZUCATTI, Alessandra Teixeira; CORAL, Marisa Helena Cesar; PEREIRA, Daniela Aline; ARAUJO, Luiz Antonio de; PEDROSA, Hermelinda Cordeiro; TOLENTINO, Monica; PRADO, Flaviene Alves; RASSI, Nelson; ARAUJO, Leticia Bretones de; FONSECA, Reine Marie Chaves; GUEDES, Alexis Dourado; MATTOS, Odelisa Silva de; FARIA, Manuel; AZULAY, Rossana; FORTI, Adriana Costa e; FACANHA, Cristina Figueiredo Sampaio; MONTENEGRO JUNIOR, Renan; MONTENEGRO, Ana Paula; MELO, Naira Horta; REZENDE, Karla Freire; RAMOS, Alberto; JEZINI, Deborah Laredo; GOMES, Marilia BritoBackground: In type 1 diabetes mellitus (T1DM) management, enhancing health-related quality of life (HRQoL) is as important as good metabolic control and prevention of secondary complications. This study aims to evaluate possible regional differences in HRQoL, demographic features and clinical characteristics of patients with T1DM in Brazil, a country of continental proportions, as well as investigate which variables could influence the HRQoL of these individuals and contribute to these regional disparities. Methods: This was a retrospective, cross-sectional, multicenter study performed by the Brazilian Type 1 Diabetes Study Group (BrazDiab1SG), by analyzing EuroQol scores from 3005 participants with T1DM, in 28 public clinics, among all geographical regions of Brazil. Data on demography, economic status, chronic complications, glycemic control and lipid profile were also collected. Results: We have found that the North-Northeast region presents a higher index in the assessment of the overall health status (EQ-VAS) compared to the Southeast (74.6 +/- 30 and 70.4 +/- 19, respectively; p < 0.05). In addition, North-Northeast presented a lower frequency of self-reported anxiety-depression compared to all regions of the country (North-Northeast: 1.53 +/- 0.6; Southeast: 1.65 +/- 0.7; South: 1.72 +/- 0.7; Midwest: 1.67 +/- 0.7; p < 0.05). These findings could not be entirely explained by the HbA1c levels or the other variables examined. Conclusions: Our study points to the existence of additional factors not yet evaluated that could be determinant in the HRQoL of people with T1DM and contribute to these regional disparities.
- Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia(2015) LIBERATORE JR., Raphael Del Roio; RAMOS, Priscila Manzini; GUERRA JR., Gil; MANNA, Thais Della; SILVA, Ivani Novato; MARTINELLI JUNIOR, Carlos EduardoObjective: To study the clinical and molecular characteristics of a sample of Brazilian patients with Congenital Hyperinsulinemic Hypoglycemia (CHH). Methods: Electronic message was sent to members from Endocrinology Department-Brazilian Society of Pediatrics requesting clinical data for all cases of CHH. A whole blood sample from living patients was requested for DNA extraction followed by a search for mutations of the genes ABCC8, KCNJ11, GCK, GLUD1, HADH, SLC16A1 and HNF4A. Results: Of the 61 patients evaluated, 36 (59%) were boys, and only 16 (26%) were born by normal delivery. Gestational age ranged from 32 to 41 weeks (mean = 37 weeks and 6 days). Birth weight ranged from 1590 to 5250 g (mean = 3430 g). Macrossomia occurred in 14 cases (28%). Age at diagnosis ranged from 1 to 1080 days (mean = 75 days). DNA for molecular analysis was obtained from 53 of the 61 patients. Molecular changes in the ABCC8 gene were detected in 15 (28%) of these 53 cases, and mutations in the KCNJ11 gene were detected in 6 (11%). Mutations in the GLUD1 gene were detected in 9 cases (17%) of the total series. Mutations of the GCK gene in heterozygosis were detected in 3 cases. No mutations were detected in the sequencing of genes HADH, SLC16A1 and HNF4A. Conclusion: The present study conducted in Brazil permitted the collaborative compilation of an important number of CHH cases and showed that the present clinical and molecular data are similar to those of published global series.
- Translation and validation of diabetes self-management profile (DSMP) into Brazilian Portuguese language: first instrument to assess type 1 diabetes self-management in a pediatric population(2017) PASSONE, Caroline Gouveia Buff; ESTEVES, Lygia Spassapan Oliveira; SAVOLDELLI, Roberta Dias; HARRIS, Michael A.; DAMIANI, Durval; MANNA, Thais DellaObjective: To translate and validate the instrument Diabetes Self-Management Profile (DSMP)-Conventional and Flexible Regimens into Brazilian Portuguese language in order to evaluate the quality of diabetes self-management in children and adolescents with type 1 diabetes and their caregivers. Methods: DSMP was submitted to forward and back translation method and validated in a group of type 1 diabetes youths between 6 and 18 years (n = 102), and their families. Analysis of DSMP internal consistency, intra and interobserver reliability and concurrent correlation with HbA1c were done. Results: DSMP total scores demonstrated adequate internal consistency (Cronbach's alpha = 0.79), 3-month test-retest reliability (rho = 0.53; p < 0.001), inter-interviewer agreement (rho = 0.55; p < 0.001). DSMP total score was significantly correlated to HbA1c (rho = -0.54, p < 0.001). Conclusion: DSMP-translated version is a reliable and valid tool to assess diabetes self-management.
- Economic status and clinical care in young type 1 diabetes patients: a nationwide multicenter study in Brazil(2013) GOMES, Marilia B.; MATHEUS, Alessandra Saldanha de Mattos; CALLIARI, Luis Eduardo; LUESCHER, Jorge Luiz; MANNA, Thais Della; SAVOLDELLI, Roberta Diaz; COBAS, Roberta A.; COELHO, Wellington Siqueira; TSCHIEDEL, Balduino; RAMOS, Alberto Jose; FONSECA, Reine Marie; ARAUJO, Neuza Braga C.; ALMEIDA, Henriqueta Guido; MELO, Naira Horta; JEZINI, Debora Laredo; NEGRATO, Carlos AntonioThe aim of this study is to evaluate the influence of economic status on clinical care provided to Brazilian youths with type 1 diabetes in daily practice, according to the American Diabetes Association's guidelines. This was a cross-sectional, multicenter study conducted between 2008 and 2010 in 28 public clinics in Brazil. Data were obtained from 1,692 patients (55.3 % female, 56.4 % Caucasian), with a mean age of 13 years (range, 1-18), a mean age at diagnosis of 7.1 +/- A 4 years and diabetes duration of 5 +/- A 3.7 years. Overall, 75 % of the patients were of a low or very low economic status. HbA1c goals were reached by 23.2 %, LDL cholesterol by 57.9 %, systolic blood pressure by 83.9 % and diastolic blood pressure by 73.9 % of the patients. In total, 20.2 % of the patients were overweight and 9.2 % were obese. Patients from very low economic status were less likely to attend tertiary care level when compared with those from low, medium and high economic status, 64.2 % versus 75.5 % versus 78.3 % and 74.0 %; p < 0.001, respectively. The rate of annual screening for retinopathy, nephropathy and for foot alterations was 66.2, 69.7 and 62.7 %, respectively. Insulin dose, age, very low economic status, daily frequency of self-blood glucose monitoring and female gender were independently associated with poor glycemic control. Screening for diabetic complications and attaining glucose, lipid and blood pressure goals present a challenge for young Brazilian type 1 diabetes patients. The low economic status of the majority of our patients may represent a barrier to reaching these goals.
article 6 Citação(ões) na Scopus Síndrome de Berardinelli-Seip: descrição genética e metabólica de cinco pacientes(2011) BARRA, Cristiane B.; SAVOLDELLI, Roberta D.; MANNA, Thais D.; KIM, Chong A.; MAGRE, Jocelyn; PORTA, Gilda; SETIAN, Nuvarte; DAMIANI, DurvalObjecive:To report the genetic and metabolic profile of patients with Berardinelli-Seip syndrome (BSCL) followed at Instituto da Crianca, HC-FMUSP. Subjects and methods: Patients with clinical features of BSCL (n = 5), all female, were evaluated through serum levels of glucose, insulin, lipids, leptin, and liver enzymes. Abdominal sonography and DNA analysis were also performed. Results: Leptin deficiency and hypertriglyceridemia were found in all the patients. Three progressed to diabetes mellitus. Four patients have mutations in AGPAT2 gene and one have a mutation in CAV1 gene. Conclusion: The earliest metabolic abnormalities were hypertriglyceridemia and insulin resistance, culminating in the onset of diabetes at the time of puberty. Mutations in the AGPAT2 gene were the most frequent in our patients. Arq Bras Endocrinol Metab. 2011;55(1):54-9- Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation(2012) DELLAMANNA, Thais; SILVA, Magnus R. da; CHACRA, Antonio Roberto; KUNII, Ilda S.; ROLIM, Ana Luiza; FURUZAWA, Gilberto; MACIEL, Rui Monteiro de Barros; REIS, Andre FernandesMutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2). The clinical pattern of this form of hyperglycemia is rather stable, with a slight elevation in blood glucose, which is usually not progressive. Patients rarely require pharmacological interventions and microvascular complications related to diabetes are unusual. We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793G>A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c.206C>G). The clinical course of both cases shows similarity in metabolic control of this form of diabetes over the years. Arq Bras Endocrinol Metab. 2012;56(8):490-5
- Diabetes mellitus in childhood: an emerging condition in the 21st century(2016) MANNA, Thais Della; SETIAN, Nuvarte; SAVOLDELLI, Roberta Diaz; GUEDES, Dulce Rondina; KUPERMAN, Hilton; MENEZES FILHO, Hamilton Cabral; STEINMETZ, Leandra; COMINATO, Louise; DICHTCHEKENIAN, Vae; DAMIANI, DurvalThe International Diabetes Federation (IDF-2015) estimates the existence of 30,900 children under 15 years old with type 1 diabetes mellitus (DM1) in Brazil, and an increase of 3.0% per year is expected. This review focused on meta-analysis and pediatric diabetes update articles in order to draw attention to the need of planning coping strategies to support this serious public health problem in coming years. DM1 is considered an immuno-mediated disease with a complex transmission influenced by genetic and environmental factors responsible for a gradual destruction of the insulin producing pancreatic beta cells. Seroconversion to DM1-associated autoantibodies and abnormalities in metabolic tests that assess insulin secretion and glucose tolerance can be used as predictive criteria of beta cells functional reserve and the onset of the clinical disease. Symptomatic DM1 treatment is complex and the maintenance of good metabolic control is still the only effective strategy for preserving beta cell function. Disease duration and hyperglycemia are both risk factors for the onset of chronic vascular complications that negatively affect the quality of life and survival of these patients. In this regard, health teams must be trained to provide the best possible information on pediatric diabetes, through continuing education programs focused on enabling these young people and their families to diabetes self-management.
- Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY(2014) WEINERT, Leticia S.; SILVEIRO, Sandra P.; GIUFFRIDA, Fernando M. A.; CUNHA, Vivian T.; BULCAO, Caroline; CALLIARI, Luis Eduardo; MANNA, Thais Della; KUNII, Ilda S.; DOTTO, Renata P.; DIAS-DA-SILVA, Magnus R.; REIS, Andre F.Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families.