THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
41 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 41
- 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 This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.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 One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals.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.
conferenceObject Mixed Gonadal Disgenesia: Patients of Instituto da Crianca, HC-FMUSP(2016) FERREIRA, Marianna; PINHEIRO, Claudia; QUEIROZ, Edjane; BRIGATTI, Nathalia; ITO, Simone; STEINMETZ, Leandra; COMINATO, Louise; SETIAN, Nuvarte; DICHTCHEKENIAN, Vae; MENEZES FILHO, Hamilton; MANNA, Thais Della; DAMIANI, DurvalconferenceObject Challenged Diagnosis on Hypoglycemia: Hirata Disease X Factitious Hypoglycemia(2015) JERONIMO, T.; PASSONE, C. Buff; FARIA JUNIOR, J.; SAVOLDELLI, R. Diaz; KUPERMAN, H.; MENEZES FILHO, H. Cabral de; STEINMETZ, L.; DITCHTCHEKENIAN, V; MANNA, T. Della; DAMIANI, D.conferenceObject Central Precocious Puberty After Surgical Resection of Giant Craniopharyngioma in a Girl(2018) BEZERRA, Marilia; KLINK, Gabriela; BORNEA, Rondi; PASCHOAL, Fernanda; PASSONE, Caroline; STEINMETZ, Leandra; COMINATO, Louise; ROCHA, Ruth; MANNA, Thais; FILHO, Hamilton; DAMIANI, Durval- 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.
conferenceObject Changes on Gut Microbiota after Laparoscopic Sleeve Gastrectomy in Adolescence: Case Reports(2019) RACHID, L.; COMINATO, L.; FRANCO, R. R.; V, R. Cortez; MOREIRA, L. N.; FRASCINO, A.; TADDEI, C. R.; STEINMETZ, L.; MANNA, T. Della; VELHOTE, M. C. P.; FILHO, H. C. M.; TOMA, R. K.; DAMIANI, D.conferenceObject Recurrent Orchitis in a Patient with True Hermaphroditism(2016) TEIXEIRA, T. Lyrio; SOUZA, L. Guimaraes de; MARTIN, S. San; JUSTINIANO, W.; PINHEIRO, C.; STEINMETZ, L.; COMINATO, L.; FRANCO, R. Rocha; MENEZES FILHO, H. de Cabral; MANNA, T. Della; ASSIS, L. H.; DAMIANI, D.conferenceObject Osteogenesis Imperfecta Type I: Which Patients Should Be Treated with Aminobisphosphonates?(2019) SANTOS, I. N.; MENEZES FILHO, H. C.; FRANCO, R. R.; COMINATO, L.; STEINMETZ, L.; MANNA, T. D.; DAMIANI, D.- 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.