Recent Submissions

  • DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland 

    Kizys, Marina M. L. [UNIFESP]; Louzada, Ruy A.; Mitne-Neto, Miguel; Jara, Jessica R.; Furuzawa, Gilberto K. [UNIFESP]; de Carvalho, Denise P.; Dias-da-Silva, Magnus R. [UNIFESP]; Nesi-Franca, Suzana; Dupuy, Corinne; Maciel, Rui M. B. [UNIFESP] (Oxford Univ Press Inc, 2017)
    Context: Thyroid dysgenesis (TD) is the leading cause of congenital hypothyroidism (CH). The etiology of TD remains unknown in; 90% of cases, the most common form being thyroid ectopia (TE) (48% to 61%). Objective: To ...
  • Osteogenesis imperfecta: diagnosis and treatment 

    Palomo, Telma [UNIFESP]; Vilaca, Tatiane; Lazaretti-Castro, Marise [UNIFESP] (Lippincott Williams & Wilkins, 2017)
    Purpose of reviewHere we summarize the diagnosis of osteogenesis imperfecta, discuss newly discovered genes involved in osteogenesis imperfecta, and review the management of this disease in children and adults.Recent ...
  • Incidence of vertebral fractures in calcium and vitamin D-supplemented postmenopausal Brazilian women with osteopenia or osteoporosis: data from Arzoxifene Generations Trial 

    Arantes, Henrique Pierotti [UNIFESP]; Agostinho Gimeno, Suely Godoy [UNIFESP]; Chiang, Alan Y.; Bilezikian, John P.; Lazaretti-Castro, Marise [UNIFESP] (Sbem-Soc Brasil Endocrinologia & Metabologia, 2016)
    Objective: Vertebral fracture is the most common osteoporotic fracture, affecting quality of life and increasing mortality. Epidemiological data on incidence of vertebral fracture are scarce in Brazil and throughout Latin ...
  • High frequency of vitamin D receptor gene polymorphism FokI in Brazilian Type 1 diabetes mellitus patients with clinical autoimmune thyroid disease 

    Mory, Denise Barreto [UNIFESP]; Lima Gabbay, Monica Andrade [UNIFESP]; Rocco, Eloa R. [UNIFESP]; Kasamatsu, Teresa [UNIFESP]; Crispim, Felipe [UNIFESP]; Miranda, Walquiria Lopes [UNIFESP]; Dib, Sergio Atala [UNIFESP] (Biomed Central Ltd, 2016)
    Background: Polymorphisms of vitamin D receptor (VDR) gene have been studied as genetic markers of type 1 diabetes mellitus (T1DM) and some studies have reported associations with autoimmune thyroid disease. The aim of ...
  • Double-diabetes in a real-world sample of 2711 individuals: associated with insulin treatment or part of the heterogeneity of type 1 diabetes? 

    Giuffrida, Fernando M. A.; Bulcao, Caroline; Cobas, Roberta A.; Negrato, Carlos Antonio; Gomes, Marilia B.; Dib, Sergio Atala [UNIFESP] (Biomed Central Ltd, 2016)
    Background: Double diabetes (DD) describes both individuals with obesity upon diagnosis of type 1 diabetes and those who have gained weight during follow-up, although cardiovascular risk factors (CVRF) are not well understood ...
  • Development of a strategy of physician-patient relationship for improving care for patients with disorders of sex development: a qualitative study 

    Telles-Silveira, Mariana [UNIFESP]; Knobloch, Felicia; Kater, Claudio Elias [UNIFESP] (Associacao Paulista Medicina, 2016)
    CONTEXT AND OBJECTIVE: Care for patients with disorders of sex development (DSD) should be provided in integrated-care centers by a multidisciplinary team. Implementation of this project within the teaching clinic routine ...
  • Sleep characteristics in type 1 diabetes and associations with glycemic control: systematic review and meta-analysis 

    Reutrakul, Sirimon; Thakkinstian, Ammarin; Anothaisintawee, Thunyarat; Chontong, Sasipas; Borel, Anne-Laure; Perfect, Michelle M.; Porto Silva Janovsky, Carolina Castro [UNIFESP]; Kessler, Romain; Schultes, Bernd; Harsch, Igor Alexander; van Dijk, Marieke; Bouhassira, Didier; Matejko, Bartlomiej; Lipton, Rebecca B.; Suwannalai, Parawee; Chirakalwasan, Naricha; Schober, Anne-Katrin; Knutson, Kristen L. (Elsevier Science Bv, 2016)
    Objectives: The association between inadequate sleep and type 2 diabetes has garnered much attention, but little is known about sleep and type 1 diabetes (T1D). Our objectives were to conduct a systematic review and ...
  • The psychosocial experience of individuals living with osteogenesis imperfecta: a mixed-methods systematic review 

    Tsimicalis, Argerie; Denis-Larocque, Gabrielle; Michalovic, Alisha; Lepage, Carolann; Williams, Karl; Yao, Tian-Ran; Palomo, Telma [UNIFESP]; Dahan-Oliel, Noemi; Le May, Sylvie; Rauch, Frank (Springer, 2016)
    Osteogenesis imperfecta (OI) is a genetic disorder (prevalence: 1:10,000), leading to bone fragility, frequent fractures, and varying degrees of physical limitations. Despite a substantial amount of research on the genetics, ...
  • Whole-body vibration improves neuromuscular parameters and functional capacity in osteopenic postmenopausal women 

    Dutra, Milena C. [UNIFESP]; de Oliveira, Monica L. [UNIFESP]; Marin, Rosangela V. [UNIFESP]; Kleine, Hellen C. R. [UNIFESP]; Silva, Orivaldo L.; Lazaretti-Castro, Marise [UNIFESP] (Lippincott Williams & Wilkins, 2016)
    Objective: In this longitudinal, paired-control study, we developed special vibration platforms to evaluate the effects of low-intensity vibration on neuromuscular function and functional capacity in osteopenic postmenopausal ...
  • Grip force control and hand dexterity are impaired in individuals with diabetic peripheral neuropathy 

    de Almeida Lima, Kaue Carvalho; Borges, Leandro da Silva; Hatanaka, Elaine; Rolim, Luiz Clemente [UNIFESP]; de Freitas, Paulo Barbosa (Elsevier Ireland Ltd, 2017)
    Diabetic peripheral neuropathy (DPN) affects the sensory function of the hands and, consequently, may negatively impact hand dexterity, maximum grip strength (GS(Max)), and hand grip force (GF) control during object ...
  • Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia 

    Silveira, Mariana Telles [UNIFESP]; Knobloch, Felicia; Janovsky, Carolina Castro Porto Silva [UNIFESP]; Kater, Claudio Elias [UNIFESP] (Springer/Plenum Publishers, 2016)
    We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl
  • Experience with a third-generation parathyroid hormone assay (BIO-PTH) in the diagnosis of primary hyperparathyroidism in a Brazilian population 

    Bonansea, Teresa Cristina Piscitelli [UNIFESP]; Ohe, Monique Nakayama [UNIFESP]; Brandao, Cynthia [UNIFESP]; Ferrer, Claudia de Francischi; Santos, Livia Marcela [UNIFESP]; Lazaretti-Castro, Marise [UNIFESP]; Vieira, Jose Gilberto Henriques [UNIFESP] (Sbem-Soc Brasil Endocrinologia & Metabologia, 2016)
    Objective: To evaluate the usefulness of a third-generation PTH assay in the diagnosis of primary hyperparathyroidism (PHPT). Subjects and methods: Forty-one PHPT patients (4 men and 37 women) with 61.2 +/- 10.9 (mean +/- ...
  • Iron restriction increases myoglobin gene and protein expression in Soleus muscle of rats 

    Souza, Janaina Sena de [UNIFESP]; Brunetto, Erika L.; Nunes, Maria Tereza (Acad Brasileira De Ciencias, 2016)
    Iron is an important trace element for proper cell functioning. It is present in cytochromes, hemoglobin and myoglobin (Mb), where it binds to oxygen. It is also an electron acceptor in the respiratory chain. Mb is an 18 ...
  • Multifocality in Sporadic Medullary Thyroid Carcinoma: An International Multicenter Study 

    Essig, Garth F., Jr.; Porter, Kyle; Schneider, David; Arpaia, Debora; Lindsey, Susan Chow [UNIFESP]; Busonero, Giulia; Fineberg, Daniel; Fruci, Barbara; Boelaert, Kristien; Smit, Johannes W.; Meijer, Johannes Arnoldus Anthonius; Duntas, Leonidas H.; Sharma, Neil; Costante, Giuseppe; Filetti, Sebastiano; Sippel, Rebecca S.; Biondi, Bernadette; Topliss, Duncan J.; Pacini, Furio; Maciel, Rui Monteiro de Barros [UNIFESP]; Walz, Patrick C.; Kloos, Richard T. (Mary Ann Liebert, Inc, 2016)
    Background: Current surgical standard of care in sporadic medullary thyroid carcinoma (sMTC) consists of a minimum of total thyroidectomy with central neck dissection. Some have suggested thyroid lobectomy with isthmusectomy ...
  • M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds 

    Martins-Costa, Maria Cecilia [UNIFESP]; Cunha, Lucas Leite [UNIFESP]; Lindsey, Susan Chow [UNIFESP]; Camacho, Cléber Pinto [UNIFESP]; Dotto, Renata Pires [UNIFESP]; Furuzawa, Gilberto Koiti [UNIFESP]; Sousa, Maria Sharmila Alina de [UNIFESP]; Kasamatsu, Teresa Sayoko [UNIFESP]; Kunii, Ilda Sizue [UNIFESP]; Martins, Marcio Maciel [UNIFESP]; Machado, Alberto L. [UNIFESP]; Martins, João Roberto Maciel [UNIFESP]; Dias-da-Silva, Magnus Régios [UNIFESP]; Maciel, Rui Monteiro de Barros [UNIFESP] (Bioscientifica Ltd, 2016)
    Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B ( MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and ...
  • Visfatin is a positive predictor of bone mineral density in young survivors of acute lymphocytic leukemia 

    Siviero-Miachon, Adriana Aparecida [UNIFESP]; Spinola-Castro, Angela Maria [UNIFESP]; Lee, Maria Lúcia de Martino [UNIFESP]; Calixto, Antonio Ramos; Geloneze, Bruno; Lazaretti-Castro, Marise [UNIFESP]; Guerra-Junior, Gil (Springer Japan Kk, 2017)
    Bone mass acquisition may be compromised in survivors of childhood acute lymphocytic leukemia due to various factors, including adiposity. Fat accumulation can affect bone through the direct effect of adipokines or indirectly ...
  • Long-Term Remission of Acromegaly after Octreotide Withdrawal Is an Uncommon and Frequently Unsustainable Event 

    Casagrande, Alessandra [UNIFESP]; Bronstein, Marcello Delano [UNIFESP]; Jallad, Raquel Soares [UNIFESP]; Moraes, Aline B.; Elias, Paula C. L.; Castro, Margaret; Czepielewski, Mauro A.; Boschi, Artur; Ribeiro-Oliveira, Antonio, Jr.; Schweizer, Junia R. O. L.; Vilar, Lucio; Nazato, Debora Maria [UNIFESP]; Gadelha, Monica R.; Abucham, Julio [UNIFESP] (Karger, 2017)
    Background: Long-term remission of acromegaly after somatostatin analog withdrawal has been reported in 18-42% of patients in studies with a relatively small number of patients using different inclusion and remission ...
  • Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data 

    Giuffrida, Fernando de Mello Almada [UNIFESP]; Moises, Regina Celia Mello Santiago [UNIFESP]; Weinert, Leticia S.; Calliari, Luis E.; Della Manna, Thais; Dotto, Renata Pires [UNIFESP]; Franco, Luciana Ferreira [UNIFESP]; Caetano, Lilian A.; Teles, Milena G.; Lima, Renata Andrade; Alves, Cresio; Dib, Sergio Atala [UNIFESP]; Silveiro, Sandra P.; Dias-da-Silva, Magnus Régios [UNIFESP]; Reis, André Fernandes [UNIFESP] (Elsevier Ireland Ltd, 2017)
    Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear ...
  • Fusion Oncogenes Are the Main Genetic Events Found in Sporadic Papillary Thyroid Carcinomas from Children 

    Vieira Cordioli [UNIFESP], Maria Isabel C. [UNIFESP]; Moraes, Lais [UNIFESP]; Bastos, Andre U. [UNIFESP]; Besson, Paloma [UNIFESP]; de Seixas Alves, Maria Teresa [UNIFESP]; Delcelo, Rosana [UNIFESP]; Monte, Osmar; Longui, Carlos; Cury, Adriano Namo; Cerutti, Janete M. [UNIFESP] (Mary Ann Liebert, Inc, 2017)
    Background: Previous studies reported significant differences in the clinical presentation and outcomes of papillary thyroid carcinoma (PTC) in pediatric patients compared with adults. Previous studies have suggested that ...
  • Association between severity of hypoglycemia and loss of heart rate variability in patients with type 1 diabetes mellitus 

    Silva, Ticiana Paes [UNIFESP]; Rolim, Luiz Clemente [UNIFESP]; Sallum Filho, Celso [UNIFESP]; Zimmermann, Livia M. [UNIFESP]; Malerbi, Fernando [UNIFESP]; Dib, Sergio Atala [UNIFESP] (Wiley, 2017)
    Background The occurrence of hypoglycemia has been associated with the presence of cardiovascular autonomic neuropathy. Cardiovascular autonomic reflex tests are the gold standard diagnostic method for cardiovascular ...

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