THAIS DELLA MANNA
Projetos de Pesquisa
Unidades Organizacionais
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
3 resultados
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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):54-9article 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- Two novel mutations in the EIF2AK3 gene in children with Wolcott-Rallison syndrome(2011) REIS, Andre F.; KANNENGIESSER, Caroline; JENNANE, Farida; MANNA, Thais Della; CHEURFA, Nadir; OUDIN, Claire; SAVOLDELLI, Roberta Diaz; OLIVEIRA, Carolina; GRANDCHAMP, Bernard; KOK, Fernando; VELHO, GilbertoWolcott-Rallison syndrome (WRS, OMIM 226980) is a rare autosomal recessive disorder characterized by permanent neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. We described two novel mutations in the EIF2AK3 gene in two consanguineous families with WRS from Brazil and Morocco. We have observed in case 1 a homozygous C > T replacement at base pair c.1192 at exon 7, generating a stop codon at position 398 (Gln398Stop). Both of his parents were found to be heterozygous for the mutation. We detected in both parents of case 2, a deceased Moroccan girl, a duplication of base pair c.851A at exon 5 (c.851dupA) leading to a frameshift and a stop codon at position 285 (p.Pro285AlafsX3). Both cases 1 and 2 had neonatal diabetes mellitus, multiple epiphyseal dysplasia, and growth delay, and presented episodes of acute hepatic dysfunction. Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal dysfunction is the mainstay of diagnosis.