ERICKA BARBOSA TRARBACH
Projetos de Pesquisa
Unidades Organizacionais
LIM/25 - Laboratório de Endocrinologia Celular e Molecular, Hospital das Clínicas, Faculdade de Medicina
3 resultados
Resultados de Busca
Agora exibindo 1 - 3 de 3
- Does the normalization of body weight improve male fertility?(2021) RENCK, Alessandra Covallero; TRARBACH, Ericka Barbosa; COSTA, Elaine Maria Frade
- Impaired Bone Microarchitecture in Premenopausal Women With Acromegaly: The Possible Role of Wnt Signaling(2021) SILVA, Paula P. B.; PEREIRA, Rosa M. R.; TAKAYAMA, Liliam; BORBA, Clarissa G.; DUARTE, Felipe H.; TRARBACH, Ericka B.; MARTIN, Regina Matsunaga; BRONSTEIN, Marcello D.; TRITOS, Nicholas A.; JALLAD, Raquel S.Context: Acromegaly can impair bone integrity, increasing the risk of vertebral fractures (VFs). Objective: To evaluate the impact of isolated GH/IGF-I hypersecretion on bone turnover markers, Wnt inhibitors, bone mineral density (BMD), microarchitecture, bone strength and vertebral fractures in female patients with acromegaly (Acro), compared with healthy control group (HC). Design, setting, and patients: Cross-sectional study including 83 premenopausal women without any pituitary deficiency:18 acromegaly in remission (AcroR), 12 in group with active acromegaly (AcroA), and 53 HC. Serum procollagen type 1 N-terminal propeptide, beta-carboxy-terminal crosslinked telopeptide of type 1 collagen, osteocalcin, sclerostin, and DKK1 were measured in blood samples. dual-energy X-ray absorptiometry, high-resolution peripheral quantitative computed tomography (HR-pQCT) and vertebral fractures evaluation were also assessed simultaneously. Main outcome and results: AcroA showed significantly lower sclerostin and higher DKK1 compared with HC. On HR-pQCT of tibia and radius, Acro showed impairment of trabecular (area and trabecular number), increased cortical porosity, and increased cortical area and cortical thickness compared with HC. The only significant correlation found with HR-pQCT parameters was a positive correlation between cortical porosity and serum DKK1 (R= 0.45, P= 0.044). Mild VFs were present in approximately 30% of patients. Conclusions: Eugonadal women with acromegaly without any pituitary deficiency showed increased cortical BMD, impairment of trabecular bone microstructure, and increased VF. Sclerostin was not correlated with any HR-pQCT parameters; however, DKK1 was correlated with cortical porosity in tibia (P= 0.027). Additional studies are needed to clarify the role of Wnt inhibitors on bone microarchitecture impairment in acromegaly.
- Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil(2021) TRARBACH, Ericka B.; TRIVELLIN, Giampaolo; GRANDE, Isabella P. P.; DUARTE, Felipe H. G.; JORGE, Alexander A. L.; NASCIMENTO, Felipe Barjud Pereira do; GARMES, Heraldo M.; NERY, Marcia; MENDONCA, Berenice B.; STRATAKIS, Constantine A.; BRONSTEIN, Marcello D.; JALLAD, Raquel S.Purpose Non-syndromic pituitary gigantism (PG) is a very rare disease. Aryl hydrocarbon receptor-interacting protein (AIP) and G protein-coupled receptor 101 (GPR101) genetic abnormalities represent important etiologic causes of PG and may account for up to 40% of these cases. Here, we aimed to characterize the clinical and molecular findings and long-term outcomes in 18 patients (15 males, three females) with PG followed at a single tertiary center in Sao Paulo, Brazil. Methods Genetic testing for AIP and GPR101 were performed by DNA sequencing, droplet digital PCR and array comparative genomic hybridization (aCGH). Results Pathogenic variants in the AIP gene were detected in 25% of patients, including a novel variant in splicing regulatory sequences which was present in a sporadic male case. X-LAG due to GPR101 microduplication was diagnosed in two female patients (12.5%). Of interest, these patients had symptoms onset by age 5 and 9 years old and diagnosis at 5 and 15 years, respectively. X-LAG, but not AIP, patients had a significantly lower age of symptoms onset and diagnosis and a higher height Z-score when compared to non-X-LAG. No other differences in clinical features and/or treatment outcomes were observed among PG based on their genetic background. Conclusion We characterize the clinical and molecular findings and long-term outcome of the largest single-center PG cohort described so far.