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
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, DurvalconferenceObject 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.- Pitfalls in the diagnosis of insulin autoimmune syndrome (Hirata's disease) in a hypoglycemic child: a case report and review of the literature(2019) SANTOS, Tiago Jeronimo Dos; PASSONE, Caroline Gouvea Buff; YBARRA, Marina; ITO, Simone Sakura; TELES, Milena Gurgel; MANNA, Thais Della; DAMIANI, DurvalBackground: Insulin autoimmune syndrome (IAS) is a rare cause of hyperinsulinemic hypoglycemia (HH) not addressed as a potential differential diagnosis in current pediatric guidelines. We present a case of IAS in a child with no previous history of autoimmune disease, no previous intake of triggering medications and absence of genetic predisposition. Case presentation: A 6-year-old boy presented with recurrent HH (blood glucose of 26 mg/dL [1.4 mmol/L] and insulin of 686 mu U/mL). Abdominal imaging was normal. After multiple therapeutic failures, we hypothesized misuse of exogenous insulin and factitious hypoglycemia. Council of Guardianship had the child separated from his mother, but insulin levels remained high. A chromatography test was then performed which showed high titers of endogenous insulin autoantibody (IAA) with early dissociation from the insulin molecule. The human leukocyte antigen (HLA) test showed a DRB1 *13:01/*08:02 genotype. The patient was advised to control food intake and physical activity routines. During a 5-year follow-up, hypoglycemic episodes were sparse, despite high insulin levels. Conclusions: Misdiagnosis of IAS with factitious hypoglycemia may happen if IAS is not considered as a differential diagnosis, leading to potential traumatic consequences. Further efforts should be made to increase awareness of IAS as a differential diagnosis of hypoglycemia and to include it in pediatric guidelines.
- 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.
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