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  • 1
    Online Resource
    Online Resource
    Group mentoring for junior medical students: perceptions of mentees and mentors
    FapUNIFESP (SciELO) ; 2009
    In:  Revista Brasileira de Educação Médica Vol. 33, No. 4 ( 2009-12), p. 670-675
    Details
    In: Revista Brasileira de Educação Médica, FapUNIFESP (SciELO), Vol. 33, No. 4 ( 2009-12), p. 670-675
    Abstract: O ingressante na escola médica pode encontrar dificuldades variadas, que afetam seu desempenho. Programas de apoio com mentores podem servir para auxiliar os estudantes e favorecer seu desenvolvimento pessoal e acadêmico. Neste trabalho avaliamos as percepções de estudantes e de mentores sobre um programa de apoio baseado em grupos e planejado para apoiar estudantes ingressantes. Após um ano de funcionamento regular do programa, as percepções dos estudantes e dos mentores sobre o programa foram avaliadas utilizando questionários estruturados, cuja análise permitiu estabelecer categorias de conteúdo das respostas. Tanto os estudantes que participaram regularmente do programa, como os que não haviam participado expressaram opiniões positivas sobre o programa. Os mentores expressaram alto grau de satisfação em participar do programa e opinaram que o programa vem sendo útil também para auxiliar na formação docente. Concluímos que o programa de apoio ao estudante ingressante, baseado em grupos que operam ao redor de mentores, é viável e efetivo no auxílio ao estudante e pode também contribuir para a formação e o desenvolvimento dos docentes e médicos que participam como mentores
    Type of Medium: Online Resource
    ISSN: 0100-5502
    URL: Article
    DOI: 10.1590/S0100-55022009000400019
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2009
    detail.hit.zdb_id: 2209937-2
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  • 2
    Online Resource
    Online Resource
    SUN-085 Clinical and Hormonal Features of 37 Families with Central Precocious Puberty Due to MKRN3 Loss-Of -Function Mutations
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Context: Loss-of-function mutations in the maternally imprinted Makorin RING-finger 3 (MKRN3) gene (15q11.2) are the most prevalent cause of familial central precocious puberty (CPP). Objectives: To analyze the phenotypes of a large cohort of children with CPP due to MKRN3 mutations and to compare them with the phenotypes of idiopathic CPP. Setting and Participants: We studied 73 individuals from 37 families with mutations in MKRN3 originating from nine different countries. The phenotypes of these patients at initial diagnosis were compared to a cohort of 124 patients with idiopathic CPP. Additionally, expression of nine different genes implicated with pubertal timing, including MKRN3, was performed in the hypothalamus of female mice in different phases of sexual maturation. Results: Nineteen different heterozygous, paternally inherited mutations in MKRN3 were identified in 73 patients with CPP (48 girls and 25 boys). Six MKRN3 mutations were frameshifts, one introduced a premature stop codon, 11 were missense mutations predicted to be pathogenic, and one was a deletion in the promoter region. A frameshift mutation affecting codon 161 in the amino terminal region of the protein was the most frequent MKRN3 defect (46%), representing a hotspot region. Among the cohort with MKRN3 mutations, first pubertal signs occurred at 6·2 ± 1·2 years in girls and 7·6 ± 1·4 years in boys. Patients harboring severe frameshift/nonsense mutations did not differ significantly in any clinical or hormonal parameters compared to the 20 patients with missense variants. However, when the 48 girls with MKRN3 mutations were compared with 124 idiopathic CPP girls, some parameters could be considered as possible predictors of the genetic cause: a lower age at first medical appointment (7·1 ± 1·1 in the MKRN3 group vs. 8·0 ± 2 years in the idiopathic group; p & lt; 0.001) and a shorter time interval between puberty onset and medical assistance (0·8 ± 0·8 vs 2·2 ± 2·1 years; p & lt; 0.001). Interestingly, the other predictor of MKRN3 mutations was a higher basal FSH level (5·1 ± 2·3 vs 3·9 ± 2·7 IU/L; p = 0.017) at first evaluation, although no cutoff value yielded good accuracy. Patients originating from European/Mediterranean countries were more likely to have missense variants (56% of all mutations) than North American and South American (23%) counterparts (p & lt;0.001). Mouse Mkrn3 mRNA levels in the arcuate nucleus were highest in the prepubertal phase when compared with expression of other genes and Mkrn3 decreased progressively through puberty and adult ages. Conclusions: Different types of loss-of-function MKRN3 mutations were associated with premature sexual development in both sexes. Their phenotypes were relatively uniform, regardless of the mutation type. Clinical features of children with MKRN3 mutations were similar to the idiopathic CPP group.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.1379
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
    detail.hit.zdb_id: 2881023-5
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  • 3
    Online Resource
    Online Resource
    gsp Mutation Is Not a Molecular Biomarker of Long-Term Response to First-Generation Somatostatin Receptor Ligands in Acromegaly
    MDPI AG ; 2021
    In:  Cancers Vol. 13, No. 19 ( 2021-09-28), p. 4857-
    Details
    In: Cancers, MDPI AG, Vol. 13, No. 19 ( 2021-09-28), p. 4857-
    Abstract: Background: It is still controversial if activating mutations in the stimulatory G-protein α subunit (gsp mutation) are a biomarker of response to first generation somatostatin receptor ligands (fg-SRL) treatment in acromegaly. Thus, we aimed to evaluate whether gsp mutation predicts long-term response to fg-SRL treatment and to characterize the phenotype of patients harboring gsp mutations. Methods: GNAS1 sequencing was performed by Sanger. SST2 and SST5 were analyzed by immunohistochemistry (IHC) and real-time RT-PCR. The cytokeratin granulation pattern was evaluated by IHC. Biochemical control was defined as GH 〈 1.0 ng/mL and normal age-adjusted IGF-I levels. Results: gsp mutation was found in 54 out of 136 patients evaluated. Biochemical control with fg-SRL treatment was similar in gsp+ and gsp- patients (37% vs. 25%, p = 0.219). Tumors harboring gsp mutation were smaller (p = 0.035) and had a lower chance of invading cavernous sinuses (p = 0.001). SST5 protein (p = 0.047) and mRNA (p = 0.013) expression levels were higher in wild-type tumors. Conclusions: In this largest series available in the literature, we concluded that gsp is not a molecular biomarker of response to fg-SRL treatment in acromegaly. However, the importance of its negative association with cavernous sinus invasion and SST5 expression needs to be further investigated.
    Type of Medium: Online Resource
    ISSN: 2072-6694
    URL: Article
    DOI: 10.3390/cancers13194857
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2527080-1
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  • 4
    Online Resource
    Online Resource
    HIGH-FIBER DIET PROMOTES METABOLIC, HORMONAL, AND SATIETY EFFECTS IN OBESE WOMEN ON A SHORT-TERM CALORIC RESTRICTION
    FapUNIFESP (SciELO) ; 2023
    In:  Arquivos de Gastroenterologia Vol. 60, No. 2 ( 2023-06), p. 163-171
    Details
    In: Arquivos de Gastroenterologia, FapUNIFESP (SciELO), Vol. 60, No. 2 ( 2023-06), p. 163-171
    Abstract: RESUMO Contexto: Vários mecanismos, incluindo a fome excessiva, são responsáveis pelas dificuldades dos pacientes em manter a perda de peso e mudanças na dieta após a restrição calórica. Objetivo: Avaliar o efeito da dieta de curta duração rica em fibras e com restrição calórica nos hormônios reguladores do apetite e nas sensações de fome e saciedade em mulheres com obesidade. Métodos: Em um estudo randomizado controlado, 30 mulheres com índice de massa corporal (IMC) superior a 30 kg/m2 e com idade entre 20 e 50 anos foram hospitalizadas seguindo dieta com restrição calórica (1000 kcal/dia) por 3 dias. O grupo experimental (n=15) recebeu dieta rica em fibras e o grupo controle (n=15), dieta convencional. Foram avaliados peso corporal, IMC, gasto energético de repouso (GER), grelina acilada e total, leptina, insulina e glicose e sensações de fome e saciedade. Modelos de regressão linear com efeitos mistos (efeitos fixos e aleatórios) ajudaram a avaliar as variáveis entre os dois grupos e dentro dos grupos. Resultados: O peso corporal e o IMC diminuíram tanto no grupo experimental quanto no controle (P 〈 0,001). Após a dieta rica em fibras, os níveis de grelina acilada pós-prandial (P=0,04), glicose (P 〈 0,001), insulina (P=0,04) e leptina (P=0,03), bem como o índice HOMA-IR (P=0,01) diminuiu, enquanto a saciedade melhorou (P=0,02). Mulheres obesas que seguiram a dieta convencional apresentaram aumento do percentual de gordura corporal (P=0,04) e menor GER (P=0,02). As duas dietas não diferiram em termos de sensação de fome. Conclusão: Uma dieta rica em fibras de curto prazo melhora as sensações de saciedade e os parâmetros metabólicos, suprimindo a grelina acilada pós-prandial (60 minutos) e mantendo o gasto energético de repouso.
    Type of Medium: Online Resource
    ISSN: 1678-4219 , 0004-2803
    Uniform Title: Dieta rica em fibra promove efeitos metabólicos, hormonais e de saciedade em mulheres obesas com restrição calórica de curto prazo
    URL: Article
    DOI: 10.1590/s0004-2803.202302022-96
    Language: English , Portuguese
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2023
    detail.hit.zdb_id: 2210583-9
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  • 5
    Online Resource
    Online Resource
    Insuficiência adrenal primária no adulto: 150 anos depois de Addison
    FapUNIFESP (SciELO) ; 2004
    In:  Arquivos Brasileiros de Endocrinologia & Metabologia Vol. 48, No. 5 ( 2004-10), p. 724-738
    Details
    In: Arquivos Brasileiros de Endocrinologia & Metabologia, FapUNIFESP (SciELO), Vol. 48, No. 5 ( 2004-10), p. 724-738
    Abstract: Thomas Addison first described, 150 years ago, a clinical syndrome characterized by salt-wasting and skin hyperpigmentation, associated with a destruction of the adrenal gland. Even today, over a century after Addison's report, primary adrenal insufficiency can present as a life-threatening condition, since it frequently goes unrecognized in its early stages. In the 1850’s, tuberculous adrenalitis was present in the majority of patients, but nowadays, autoimmune Addison's disease is the most common cause of primary adrenal insufficiency. In the present report, we show the prevalence of different etiologies, clinical manifestations and laboratorial findings, including the adrenal cortex autoantibody, and 21-hydroxylase antibody in a Brazilian series of patients with primary adrenal insufficiency followed at Divisão de Endocrinologia da Universidade Federal de São Paulo (UNIFESP) and at Faculdade de Medicina de Ribeirão Preto - USP (FMRP-USP).
    Type of Medium: Online Resource
    ISSN: 0004-2730
    URL: Article
    DOI: 10.1590/S0004-27302004000500019
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2004
    detail.hit.zdb_id: 2053068-7
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  • 6
    Online Resource
    Online Resource
    SAT-LB36 Distinct Vitamin D Receptor DNA Methylation Profiles Are Associated With the Outcome of Pediatric Patients With Adrenocortical Tumors
    The Endocrine Society ; 2020
    In:  Journal of the Endocrine Society Vol. 4, No. Supplement_1 ( 2020-05-08)
    Details
    In: Journal of the Endocrine Society, The Endocrine Society, Vol. 4, No. Supplement_1 ( 2020-05-08)
    Abstract: Pediatric adrenocortical tumors (pACT) are rare, display complex genomic background and lack robust prognostic markers. Very recently, distinct genomic methylation profiles of pACT were associated with prognosis. The vitamin D receptor (VDR) was shown to be underexpressed in ACT, especially in carcinomas (ACC). In adult ACC, VDR inactivation by methylation was demonstrated. On the other hand, VDR activation was shown to inhibit ACC proliferation in vitro and in vivo. Aim: To evaluate VDR DNA methylation profile and its clinical and prognostic significance in pediatric ACT. Methods: Genomic DNA methylation from 57 pACTs [40 girls; median age: 2.1 (0.2-16.4) years] was assessed using Infininium Methylation EPIC BeadChip Array. Unsupervised hierarchical clustering analysis (Ward method, R Stats Package) was performed considering the M-values of the 49 probes targeting the whole extension of VDR gene contained in the array. Clinical, histopathological and molecular features, as well as pACT VDR mRNA levels (qPCR) and nuclear immunoreactivity (IHC) were used for association analysis. Results: Hierarchical clustering identified three clusters of pACT. Methylated VDR-targeted probes (M-values different from 0; n=37) composed the VDR methylation profile, which differed significantly between the clusters [M-values: C1=1.77 (1.1-1.9) (low), C2=2.15 (1.7-2.7) (intermediate), and C3=2.65 (2.2-3.1) (high); p & lt;0.0001]. The C1 cluster comprised a set of patients with favorable outcome (n=18), who were younger (p=0.035), did not present metastasis at diagnosis (IPACTR stage IV) or after surgery, nor were diagnosed with carcinomas (Wieneke criteria & gt;=4), were not carriers of somatic Beta-catenin activating mutations, or died. Although cluster C2 patients (n=21) presented intermediary disease features, only 2 patients died and the overall outcome was positive. Instead, the C3 cluster concentrated patients (n=18) with non-localized/metastatic disease (IPACTR stages I/II vs. III/IV; p=0.004), post-surgical metastasis/recurrence (p=0.009), and patients who needed adjuvant chemotherapy (p=0.005). Moreover, C3 patients had lower overall and disease-free survival rates (log-rank: p=0.001 and p=0.014, respectively). VDR methylation was not associated with sex, clinical presentation, P53 mutations, nor with tumor VDR mRNA expression or nuclear immunoreactivity. Conclusions: Three VDR methylation profiles were associated with distinct pACT clinical features and outcome. High VDR methylation was associated with worst outcome. Fully functioning VDR may play a beneficial role against pediatric adrenocortical tumorigenesis. This finding highlights the potential of targeting VDR as an adjuvant therapeutic target.
    Type of Medium: Online Resource
    ISSN: 2472-1972
    URL: Article
    DOI: 10.1210/jendso/bvaa046.2024
    Language: English
    Publisher: The Endocrine Society
    Publication Date: 2020
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  • 7
    Online Resource
    Online Resource
    Vasopressin serum levels and disorders of sodium and water balance in patients with severe brain injury
    FapUNIFESP (SciELO) ; 2007
    In:  Arquivos de Neuro-Psiquiatria Vol. 65, No. 4b ( 2007-12), p. 1158-1165
    Details
    In: Arquivos de Neuro-Psiquiatria, FapUNIFESP (SciELO), Vol. 65, No. 4b ( 2007-12), p. 1158-1165
    Abstract: ANTECEDENTES: Desordens do balanço de água e sódio são frequentemente vistas em pacientes com lesão cerebral grave (LCG), podendo agravar o prognóstico. OBJETIVO: Avaliar os níveis séricos de vasopressina (AVP) e a incidência de distúrbios da água e sódio na primeira semana pós-lesão em pacientes com LCG. MÉTODO: Trinta e seis pacientes adultos com LCG (pontuação inicial na escala de coma de Glasgow 〈 8) e tempo estimado de lesão 〈 72h foram estudados prospectivamente. Dados laboratoriais e clínicos foram registrados e os níveis séricos de AVP foram mensurados no 1º, 2º, 3º e 5º dias pós-inclusão. RESULTADOS: A AVP manteve-se dentro da faixa de normalidade nestes pacientes, mas mostrando-se proporcionalmente mais elevada nos pacientes que não sobreviveram (p=0,025 no 3º dia). A mortalidade intra-hospitalar foi 43% (15/36) e as variações do sódio e osmolalidade plasmáticos foram maiores nos pacientes que não sobreviveram durante o período de observação (p 〈 0,001). CONCLUSÃO: Os níveis séricos de AVP mantiveram-se dentro da faixa de normalidade nestes pacientes com LCG, mas aqueles não sobreviventes mostraram maior incidência de anormalidades do balanço de água e sódio durante a primeira semana de evolução.
    Type of Medium: Online Resource
    ISSN: 0004-282X
    URL: Article
    DOI: 10.1590/S0004-282X2007000700013
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2007
    detail.hit.zdb_id: 2053072-9
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  • 8
    Online Resource
    Online Resource
    Vasopressina e morte encefálica
    FapUNIFESP (SciELO) ; 2000
    In:  Arquivos de Neuro-Psiquiatria Vol. 58, No. 1 ( 2000-03), p. 181-187
    Details
    In: Arquivos de Neuro-Psiquiatria, FapUNIFESP (SciELO), Vol. 58, No. 1 ( 2000-03), p. 181-187
    Abstract: Brain death results in the breakdown of effective central regulatory mechanisms of cardiocirculatory stability, even in patients with artificial mechanical ventilation, correction of electrolytic and acid-basic disorders and maximal conventional pharmacological support of the circulation. Recent evidences have shown that the fall of vasopressin levels in the blood circulation significantly influences the cardiocirculatory stability of patients with brain death, and its exogenous administration is defended by many authors for the management of multiorgan donor patients. In this brief review we analyse and discuss some experimental and clinical relevant studies about the role of vasopressin in the control of cardiocirculatory stability in brain death, and its potential usefulness in the management of multiorgan donor. We conclude that the role of vasopressin in the pathophysiology of brain death and its usefulness as a pharmacological agent in the management of multiorgan donor are not well elucidated, deserving further investigations.
    Type of Medium: Online Resource
    ISSN: 0004-282X
    URL: Article
    DOI: 10.1590/S0004-282X2000000100029
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2000
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  • 9
    Online Resource
    Online Resource
    Surgical management of pediatric Cushing's disease: an analysis of 15 consecutive cases at a specialized neurosurgical center
    FapUNIFESP (SciELO) ; 2010
    In:  Arquivos Brasileiros de Endocrinologia & Metabologia Vol. 54, No. 1 ( 2010-02), p. 17-23
    Details
    In: Arquivos Brasileiros de Endocrinologia & Metabologia, FapUNIFESP (SciELO), Vol. 54, No. 1 ( 2010-02), p. 17-23
    Abstract: OBJETIVO: O objetivo deste estudo foi avaliar os resultados cirúrgicos em pacientes pediátricos com doença de Cushing com idade inferior a 18 anos, submetidos à cirurgia transfenoidal num centro especializado, durante um período de acompanhamento de 25 anos. SUJEITOS E MÉTODOS: Estudo retrospectivo dos prontuários médicos de 15 pacientes pediátricos com doença de Cushing (idade média de 13 anos), sendo avaliados aspectos clínicos, laboratoriais, histológicos e radiológicos. Todos os pacientes foram avaliados pela mesma equipe de endocrinologistas e operados por um mesmo neurocirurgião, entre 1982 e 2006. O tempo médio de seguimento foi 11,5 anos (2 a 25 anos). Os pacientes foram considerados curados quando houve insuficiência adrenal e níveis de cortisol plasmático inferiores a 1,8 µg/dL ou 50 nmol/L no pós-operatório um, dois, três ou sete dias após a cirurgia; estes pacientes necessitaram de reposição de corticosteroide. RESULTADOS: Cura clínica e bioquímica foi alcançada em 9/15 pacientes (60%) após a cirurgia transfenoidal. Hipopituitarismo foi observado em quatro pacientes; déficit de hormônio de crescimento, em dois; diabetes insípido permanente, em um. CONCLUSÕES: A doença de Cushing é rara na infância e na adolescência. A cirurgia transfenoidal é um tratamento efetivo e seguro para a maioria dos pacientes. Uma concentração de cortisol plasmático 〈 1,8 µg/dL nos primeiros dias pós-cirurgia transfenoidal é o objetivo do tratamento e um fator preditivo tardio para a cura da doença de Cushing.
    Type of Medium: Online Resource
    ISSN: 0004-2730
    URL: Article
    DOI: 10.1590/S0004-27302010000100004
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2010
    detail.hit.zdb_id: 2053068-7
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  • 10
    Online Resource
    Online Resource
    Bases Moleculares da Hiperplasia Adrenal Congênita
    FapUNIFESP (SciELO) ; 2002
    In:  Arquivos Brasileiros de Endocrinologia & Metabologia Vol. 46, No. 4 ( 2002-08), p. 457-477
    Details
    In: Arquivos Brasileiros de Endocrinologia & Metabologia, FapUNIFESP (SciELO), Vol. 46, No. 4 ( 2002-08), p. 457-477
    Abstract: Congenital adrenal hiperplasia (CAH) is a recessive autossomic disease caused by inherited defects in cortisol biosynthesis. The manifestations are caused both by the deficient synthesis of cortisol, and sometimes of aldosterone, and by accumulation of the precursor steroids. The objective of this review is to present the molecular mechanisms of the main enzymatic defects involved in the etiopathogenesis of CAH. Deficiency of 21-hydroxylase (21OH) accounts for more than 95% of all cases of CAH. The human genome contains two CYP genes: one active, CYP21, and a pseudogene, CYP21P. Both are highly homologous (98%), facilitating recombination events during meiosis, leading to duplication and/or deletion or conversion of these genes. Additionally, point mutations have also been described. Deficiency of 11beta-hydroxylase (11betaOH) is caused by mutations in the CYP11B1 gene, and accounts for 5% of all cases. Some mutations are recurrent, and mainly located on exons 6-8, which is considered a hot-spot area in CYP11B1 gene. Deficiency of 17alpha-hydroxylase (17OH) is caused by mutations in the CYP17 gene, producing a truncated or impaired protein. These mutations have been described in patients with combined deficiencies of 17OH and 17,20-lyase or with isolated 17,20-lyase. Finally, CAH caused by 3beta-HSD deficiency is the consequence of mutations in the gene HSD3B2 that encodes 3beta-HSD type II. In the classical form of the disease nonsense mutations, insertion and deletions have been described, while in non classical forms, mutations result in diminished enzyme affinity and loss of enzyme activity.
    Type of Medium: Online Resource
    ISSN: 0004-2730
    URL: Article
    DOI: 10.1590/S0004-27302002000400017
    Language: Unknown
    Publisher: FapUNIFESP (SciELO)
    Publication Date: 2002
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