THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
5 resultados
Resultados de Busca
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conferenceObject 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.- 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.
- 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, 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