THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
18 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 18
- Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data(2017) GIUFFRIDA, Fernando M. A.; MOISES, Regina S.; WEINERT, Leticia S.; CALLIARI, Luis E.; MANNA, Thais Della; DOTTO, Renata P.; FRANCO, Luciana F.; CAETANO, Lilian A.; TELES, Milena G.; LIMA, Renata Andrade; ALVES, Cresio; DIB, Sergio A.; SILVEIRO, Sandra P.; DIAS-DA-SILVA, Magnus R.; REIS, Andre F.Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. Results: 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16 +/- 11 vs 35 +/- 20 years; age at diagnosis 11 +/- 8 vs 21 +/- 7 years; BMI 19 +/- 6 vs 25 +/- 6 kg/m(2); sulfonylurea users 5 vs 83%; insulin users 5 vs 17%; presence of arterial hypertension 0 vs. 33%, all p < 0.05. No differences were observed in lipids and C-peptide. Conclusions: Most MODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis.
- 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.
- Regional differences in clinical care among patients with type 1 diabetes in Brazil: Brazilian Type 1 Diabetes Study Group(2012) GOMES, Marilia B.; COBAS, Roberta A.; MATHEUS, Alessandra S.; TANNUS, Lucianne R.; NEGRATO, Carlos Antonio; RODACKI, Melanie; BRAGA, Neuza; CORDEIRO, Marilena M.; LUESCHER, Jorge L.; BERARDO, Renata S.; NERY, Marcia; MARQUES, MariadoCarmo A.; CALLIARI, Luiz E.; NORONHA, Renata M.; MANNA, Thais D.; ZAJDENVERG, Lenita; SALVODELLI, Roberta; PENHA, Fernanda G.; FOSS, Milton C.; FOSS-FREITAS, Maria C.; PIRES, Antonio C.; ROBLES, Fernando C.; GUEDES, Maria de Fatima S.; DIB, Sergio A.; DUALIB, Patricia; SILVA, Saulo C.; SEPULVIDA, Janice; ALMEIDA, Henriqueta G.; SAMPAIO, Emerson; REA, Rosangela; FARIA, Ana Cristina R.; TSCHIEDEL, Balduino; LAVIGNE, Suzana; CARDOZO, Gustavo A.; AZEVEDO, Mirela J.; CANANI, Luis Henrique; ZUCATTI, Alessandra T.; CORAL, Marisa Helena C.; PEREIRA, Daniela Aline; ARAUJO, Luiz Antonio; TOLENTINO, Monica; PEDROSA, Hermelinda C.; PRADO, Flaviane A.; RASSI, Nelson; ARAUJO, Leticia B.; FONSECA, Reine Marie C.; GUEDES, Alexis D.; MATOS, Odelissa S.; FARIA, Manuel; AZULAY, Rossana; FORTI, Adriana C.; FACANHA, Cristina; MONTENEGRO, Ana Paula; MONTENEGRO JR., Renan; MELO, Naira H.; REZENDE, Karla F.; RAMOS, Alberto; FELICIO, Joao Sooares; SANTOS, Flavia M.; JEZINI, Deborah L.; CORDEIRO, Marilena M.Background: To determine the characteristics of clinical care offered to type 1 diabetic patients across the four distinct regions of Brazil, with geographic and contrasting socioeconomic differences. Glycemic control, prevalence of cardiovascular risk factors, screening for chronic complications and the frequency that the recommended treatment goals were met using the American Diabetes Association guidelines were evaluated. Methods: This was a cross-sectional, multicenter study conducted from December 2008 to December 2010 in 28 secondary and tertiary care public clinics in 20 Brazilian cities in north/northeast, mid-west, southeast and south regions. The data were obtained from 3,591 patients (56.0% females and 57.1% Caucasians) aged 21.2 +/- 11.7 years with a disease duration of 9.6 +/- 8.1 years (< 1 to 50 years). Results: Overall, 18.4% patients had HbA1c levels <7.0%, and 47.5% patients had HbA1c levels >= 9%. HbA1c levels were associated with lower economic status, female gender, age and the daily frequency of self-blood glucose monitoring (SBGM) but not with insulin regimen and geographic region. Hypertension was more frequent in the mid-west (32%) and north/northeast (25%) than in the southeast (19%) and south (17%) regions (p<0.001). More patients from the southeast region achieved LDL cholesterol goals and were treated with statins (p<0.001). Fewer patients from the north/northeast and mid-west regions were screened for retinopathy and nephropathy, compared with patients from the south and southeast. Patients from the south/southeast regions had more intensive insulin regimens than patients from the north/northeast and mid-west regions (p<0.001). The most common insulin therapy combination was intermediate-acting with regular human insulin, mainly in the north/northeast region (p<0.001). The combination of insulin glargine with lispro and glulisine was more frequently used in the mid-west region (p<0.001). Patients from the north/northeast region were younger, non-Caucasian, from lower economic status, used less continuous subcutaneous insulin infusion, performed less SBGM and were less overweight/obese (p<0.001). Conclusions: A majority of patients, mainly in the north/northeast and mid-west regions, did not meet metabolic control goals and were not screened for diabetes-related chronic complications. These results should guide governmental health policy decisions, specific to each geographic region, to improve diabetes care and decrease the negative impact diabetes has on the public health system.
- 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.
- A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism(2012) BATTISTIN, Claudilene; MENEZES FILHO, Hamilton Cabral de; DOMENICE, Sorahia; NISHI, Mirian Yumie; MANNA, Thais Della; KUPERMAN, Hilton; STEINMETZ, Leandra; DICHTCHEKENIAN, Vae; SETIAN, Nuvarte; DAMIANI, DurvalWe report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient.
- 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