THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
13 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 13
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 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- 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- 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.
conferenceObject Recombinant Growth Hormone in Children and Adolescents Wit h Turner Syndrome(2018) ATHAYDE, Deborah; FIRMINO, Sara; KLINK, Gabriela; STEINMETZ, Leandra; COMINATO, Louise; FRANCO, Ruth; MENEZES, Hamilton Cabral De; KUPERMAN, Hilton; PASSONE, Caroline; MANNA, Thais; DAMIANI, DurvalconferenceObject Central Precocious Puberty in a Girl with Unusual Presentation of Schimmelpenning-Feurstein-Mims Syndrome a Case Report(2018) CARVALHO, Marilia De; KLINK, Gabriela; BORNEA, Rondi; CARVALHO, Fernanda De; GOUVEIA, Caroline De; STEINMETZ, Leandra; COMINATO, Louise; ROCHA, Ruth; DELLA, Thais; CABRAL, Hamilton; DAMIANI, Durvalarticle 21 Citação(ões) na Scopus Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities(2011) MENEZES FILHO, Hamilton Cabral de; MARUI, Suemi; MANNA, Thais Della; BRUST, Ester Saraiva; RADONSKY, Vanessa; KUPERMAN, Hilton; DICHTCHEKENIAN, Vae; SETIAN, Nuvarte; DAMIANI, DurvalMCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevatedT3, low total and free T4, and mildly elevated TSH serum levels.Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient.These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels. Arq Bras Endocrinol Metab. 2011;55(1).60-6