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1.
PLoS One ; 18(10): e0292623, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37796920

RESUMO

Although current evidence suggests increased risk of obesity, insulin resistance, and metabolic alterations in patients with polycystic ovary syndrome (PCOS), especially of a hyperandrogenic phenotype, the impact of each one of these variables on muscle mass remains uncertain. In this case-control study, we evaluated clinical and hormonal characteristics related to lean body mass according to the different PCOS phenotypes. We performed clinical, metabolic, and hormonal assessments and evaluated body compartments by dual-energy X-ray absorptiometry in 133 women of reproductive age. Creatinine served as an indirect marker of lean mass. Median age was 28 (range, 17-37) years. Women with phenotypes A and B (n = 59) had higher body mass index (BMI) and metabolic syndrome prevalence than those with phenotype C (n = 23) and controls (n = 51) (p<0.005). Women with phenotypes A and B also had higher Ferriman-Gallwey score (p<0.001), insulin levels (p = 0.006), HOMA-IR (p = 0.008), testosterone (p = 0.008), free androgen index (FAI) (p<0.001), fat mass index (FMI) (p = 0.015), android-to-gynoid fat ratio (p = 0.036), and bone mineral density (BMD) at lumbar spine (p = 0.027) and total femur (p = 0.013) than controls. Median appendicular lean mass index (ALMI) was higher in phenotypes A and B than in controls (7.01 [IQR, 6.33-8.02] vs. 6.69 [IQR, 5.94-7.09], p = 0.024), but it did not differ significantly from that in phenotype C (6.60 [IQR, 6.16-7.22], p = 0.222). Even after adjusting for BMI, ALMI correlated positively with creatinine in women with phenotypes A and B (rho = 0.319, p = 0.023) but not in those with phenotype C (p = 0.238) or controls (p = 0.097). In multivariate linear regression analyses, ALMI was positively associated with insulin, FAI, FMI, and total femur BMD. The present results suggest that fasting insulin, FAI, fat mass, and total femur BMD were positively associated with increased lean mass in women with PCOS phenotypes A and B.


Assuntos
Resistência à Insulina , Síndrome do Ovário Policístico , Humanos , Feminino , Adulto , Síndrome do Ovário Policístico/complicações , Estudos de Casos e Controles , Creatinina , Insulina/metabolismo , Índice de Massa Corporal
2.
Clin. biomed. res ; 43(1): 90-91, 2023.
Artigo em Inglês | LILACS | ID: biblio-1436255

RESUMO

Rare cases of suspected COVID-19 reactivation have been reported. Reactivation is defined by two positive real-time RT-PCR results for the SARS-CoV-2 virus, with an interval equal to or greater than 90 days between two episodes of COVID-19. A nurse, started with COVID-19 symptoms in July 2020 and a RT-PCR SARS-CoV-2 confirmed the diagnosis. In November 2020, more than 4 months later, she developed a new episode of COVID-19 confirmed by a second RT-PCR SARS-CoV-2. The patient received a first dose of CoronaVac ­ (Sinovac/Butantan) in January 2021 and a second dose in February 2021, but 30 days after a third episode was confirmed. Contrary to what happens with many infectious diseases which generate antibodies and protect people from future episodes, this aspect is still not clear in relation to COVID-19. In addition to vaccination, the use of Personal Protective Equipment is essential for healthcare workers.


Assuntos
Humanos , Feminino , Reinfecção/prevenção & controle , SARS-CoV-2/imunologia , COVID-19/imunologia , COVID-19/prevenção & controle , Teste Sorológico para COVID-19
3.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 69(4): e20221271, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1431244

RESUMO

SUMMARY OBJECTIVES: The coronavirus disease pandemic has become a major global health crisis since 2019. Recent data show the association of diabetes, hypertension, and obesity with poor related outcomes in coronavirus disease infection. This descriptive study aimed to identify the clinical and laboratory parameters in patients with acute respiratory syndrome and confirmed severe acute respiratory syndrome coronavirus 2 infection. METHODS: In this cross-sectional study, we analyzed data of 409 patients admitted to a referral hospital in Rio Grande do Sul, Brazil, with coronavirus disease infection confirmed by reverse transcription polymerase chain reaction. Clinical, laboratory, and imaging data were collected retrospectively from electronic medical records using a template with the variables of interest. RESULTS: The average age was 64 years (52-73), and the body mass index was 27 kg/m² (22.1-31.2). Hypertension, diabetes, and obesity were observed in 58, 33, and 32% of the patients, respectively. Patients admitted to an intensive care unit were older [66 years (53-74) vs. 59 years (42.2-71.7)], with significantly higher impairment on chest computed tomography [75% (50-75) vs. 50% (25-60)] and received higher doses of corticosteroid therapy [39.4 mg (14.3-70.3) vs. 6 mg (6-14.7)]. Hematological parameters were lower in critically ill patients, with greater differences observed on the fifth day of hospitalization [hemoglobin 11.5 g/dL (9.5-13.1) vs. 12.8 g/dL (11.5-14.2), platelets 235,000 μL (143,000-357,000) vs. 270,000 μL (192,000-377,000), and lymphocytes 900 μL (555-1,500) vs. 1,629 μL (1,141-2,329)]. C-reactive protein levels and kidney function were also worse in intensive care unit patients. The mortality rate was significantly higher in the intensive care unit compared to the basic care unit (62.8 vs. 12.2%). CONCLUSION: Our findings suggest that metabolic and cardiovascular comorbidities, as well as abnormal hematological parameters, are common findings among patients with severe respiratory syndrome related to coronavirus disease.

4.
Metabolites ; 12(9)2022 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-36144246

RESUMO

Suppressive levothyroxine therapy (sT4) is a cornerstone in the management of differentiated thyroid cancer (DTC). Long-term sT4 may affect bone mineral density (BMD). We evaluated the effect of sT4 on the bone mass of young DTC patients. In this cross-sectional study, BMD was evaluated via dual-energy X-ray absorptiometry in DTC patients younger than 25 years at diagnosis and undergoing sT4 for ≥1 year. The two control groups comprised patients matched for sex, age, and body-mass-index who were thyroidectomized for indications other than DTC and undergoing L-T4-replacement therapy, and healthy individuals with no prior known thyroid disease. Ninety-three participants were included (thirty-one in each group). There were no differences in the mean age, female sex (77.4% in all groups), or BMI between the sT4 group and each control group. The median TSH level was lower (0.4 [0.04-6.5] vs. 2.7 [0.8-8.5] mIU/mL, p = 0.01) and the mean L-T4 mcg/Kg levels were higher (2.4 ± 0.6 vs. 1.6 ± 0.3, p = 0.01) in the sT4 group compared to the L-T4-replacement therapy group. Lumbar spine, femoral neck, and total femur BMD were all similar among the groups. sT4 does not impact BMD in young DTC patients after a median time of suppression of 8 years. These findings may help in the decision-making and risk/benefit evaluation of sT4 for this population.

5.
Semin Arthritis Rheum ; 56: 152077, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35952534

RESUMO

INTRODUCTION: Systemic sclerosis (SSc) is a chronic disease characterized by autoimmunity, vasculopathy and fibrosis of several organs, such as skin, lungs, and heart. During the disease course, patients with SSc are prone to accumulating multiple organ damage and increasing their vulnerability to adverse outcomes. This increased vulnerability to adverse outcomes when exposed to a stressor among people of the same age is known as frailty. One of the most used definitions of frailty is the physical frailty phenotype (PFP), including 5 components: unintentional weight loss, exhaustion, muscle weakness, slow walking speed, and low physical activity. There is scarce data about frailty in patients with SSc. OBJECTIVES: To determine the prevalence and clinical profile of PFP in a sample of patients with SSc. To investigate the diagnostic accuracy of the Fatigue, Resistance, Ambulation, Illness and Loss of weight (FRAIL) scale, Edmonton frailty scale (EFS) and Short Physical Performance Battery (SPPB) using the PFP as the reference standard. METHODS: Cross-sectional study including 94 patients with SSc according to the 2013 ACR-EULAR classification criteria or the criteria suggested by Le Roy and Medsger for early disease. Gastrointestinal symptoms were assessed by the UCLA GIT 2.0 questionnaire, malnutrition was defined according to European Society of Clinical Nutrition and Metabolism (ESPEN) recommendations, and physical performance was assessed by SPPB. PFP assessment was according to the original definition, except for physical activity domain, assessed with the International Physical Activity Questionnaire (IPAQ). FRAIL scale and EFS were also applied to the same individuals. For diagnostic assessment of FRAIL, EFS and SPPB, we estimated the area under the receiver operating characteristic curve (AUC), considering PFP as the reference standard and dichotomizing the results in frail vs. non-frail. RESULTS: According to PFP, 33 patients (35.1%) were considered frail and 53 patients (56.4%) pre-frail. According to FRAIL scale, 27 patients (28.7%) were considered frail and 53 patients (56.4%) pre-frail. According to EFS, 28 patients (29.7%) were classified as vulnerable and 15 (15.9%) as frail: mild in 8 (8.5%), moderate in 5 (5.3%) and severe in 2 (2.1%). According to SPPB, 19 patients (20.2%) were considered frail. The AUC against PFP was: 0.829 (95% CI 0.743-0.916) for FRAIL scale, 0.859 (95% CI 0.784-0.934) for EFS and 0.791 (95% CI 0.697-0.885) for SPPB. The PFP was associated with current use of glucocorticoids (p=0.011), UCLA GIT 2.0 score (p=0.001), HAQ (p<0.0001), patient and physician-assigned VAS (p<0.0001, both), malnutrition (p=0.007), hospitalizations in the past year (p=0.008) and dependence on BADL and IADL (p=0.027 and p<0.0001, respectively). The PFP was not associated with gender (p=0.679), age (p=0.303), disease duration (p=0.504), Rodnan skin score (p=0.918), diffuse subtype (p=0.116), polypharmacy (p=845) and sarcopenia (p=0.328). CONCLUSION: Frailty is prevalent in patients with long-standing SSc and is associated with disability, limitations in daily activities and hospitalizations in the past year. Also, malnutrition and more severe gastrointestinal symptoms were more common in frail patients. Both FRAIL scale and EFS showed excellent diagnostic accuracy against PFP as the reference standard, however the FRAIL scale presents a higher sensitivity and seems to be more feasible and practical than EFS and SPPB in clinical practice.


Assuntos
Fragilidade , Desnutrição , Escleroderma Sistêmico , Idoso , Estudos Transversais , Fadiga/epidemiologia , Fadiga/etiologia , Idoso Fragilizado , Fragilidade/diagnóstico , Fragilidade/epidemiologia , Avaliação Geriátrica/métodos , Humanos , Escleroderma Sistêmico/complicações , Escleroderma Sistêmico/epidemiologia
6.
Clin Endocrinol (Oxf) ; 88(6): 856-862, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29630732

RESUMO

OBJECTIVE: Cross-sex hormone therapy (CSHT) has been associated with changes in bone and lean/fat mass. This study assessed bone mineral density (BMD), appendicular lean mass (ALM), and total fat mass in transwomen undergoing CSHT. PATIENTS AND DESIGN: We evaluated 142 transwomen (mean age: 33.7 ± 10.3 years; BMI: 25.4 ± 4.6; 86.6% with previous CSHT) during the first 3 months of regular oestrogen treatment (with or without anti-androgens). A reference group including 22 men and 17 cis women was also studied. MEASUREMENTS: Clinical and hormonal evaluation and dual-energy X-ray absorptiometry (DXA). RESULTS: Bone mineral density was similar in trans and reference women, and lower at all sites in transwomen vs men. Low bone mass for age was observed in 18% of transwomen at baseline vs none of the reference women or men. Appendicular lean mass and total fat mass were positively correlated with L1-L4 BMD, explaining 14.9% of the observed variation in lumbar spine BMD and 20.6% of the variation in total femur BMD. Appendicular lean mass was similar in trans and reference women, and lower in transwomen vs men. Total fat mass was lower in trans vs reference women. Densitometry was repeated after a mean of 31.3 ± 6.5 months in 46 transwomen. There was a significant increase in total fat mass and a significant decrease in ALM. Bone mineral density remained stable over time. CONCLUSIONS: The fairly high prevalence of low bone mass in this sample of transwomen from southern Brazil seems to be related to lower ALM. Non-pharmacological lifestyle-related strategies for preventing bone loss could be beneficial for transgender women receiving long-term CSHT.


Assuntos
Composição Corporal/efeitos dos fármacos , Densidade Óssea/efeitos dos fármacos , Transexualidade/tratamento farmacológico , Absorciometria de Fóton , Adolescente , Adulto , Composição Corporal/fisiologia , Índice de Massa Corporal , Densidade Óssea/fisiologia , Brasil , Estradiol/uso terapêutico , Estrogênios/uso terapêutico , Feminino , Humanos , Modelos Lineares , Masculino , Adulto Jovem
7.
Case Rep Endocrinol ; 2017: 7898713, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28676838

RESUMO

McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. No available treatment is effective in changing the course of fibrous dysplasia of bone, but symptomatic patients require therapeutic support to reduce bone pain and prevent fractures and deformities. We report the case of a 27-year-old woman with MAS and severe fibrous dysplasia. She was diagnosed with MAS at 4 years of age and, during follow-up, she had multiple pathological fractures and bone pain refractory to treatment with bisphosphonates, tricyclic antidepressants, and opioids. The pain was incapacitating and the patient required a wheelchair. Intranasal calcitonin was then started, and, 30 days later, the patient already showed significant improvement in pain severity at the affected sites. After 3 months, she was able to walk without assistance. No adverse effects were observed, nor were any significant changes in serum levels of calcium, phosphorus, and alkaline phosphatase. Calcitonin has a well-recognized analgesic effect on bone tissue. Despite the small number of studies involving patients with MAS, calcitonin may be considered a short-term therapeutic option in cases of severe and refractory bone pain.

8.
Endokrynol Pol ; 66(6): 480-5, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26662646

RESUMO

INTRODUCTION: Several studies have shown an increased risk of thyroid malignancies in patients with elevated TSH levels, even if these levels fell within the normal range. The aim of this study was to evaluate the relationship between TSH and risk of malignancy in patients with thyroid nodules. MATERIAL AND METHODS: We included 622 patients with thyroid nodules evaluated by fine needle aspiration and/or thyroidectomy and diagnosed by cytology or histology. Clinical and laboratory data, such as gender, weight, ultrasound findings, serum TSH, and free T4, were obtained from medical records or collected during each patient's first visit to our centre, prior to any intervention. RESULTS: Thyroid cancer was more prevalent in males (p = 0.012) and in patients with a solitary nodule (p < 0.01). Malignant tumours were predominantly solid, whereas benign tumours were solid or mixed (p = 0.053). The carcinoma risk in patients with thyroid nodules increased with increasing serum TSH concentration, with a significant elevation in patients with serum TSH levels above 1.64 mU/L (p < 0.001). This relationship persisted even when the subgroup of patients undergoing thyroidectomy was analysed separately. Patients with follicular lesions presented with significantly higher TSH levels compared to patients with benign cytology (p < 0.001). We also found correlation between elevated TSH and tumour size (p = 0.005). CONCLUSIONS: Our results suggest that in patients with nodular thyroid disease the carcinoma risk rose in parallel with serum TSH concentration, with significant increases evident in patients with serum TSH greater than 1.64 mU/L.


Assuntos
Neoplasias da Glândula Tireoide/sangue , Tireotropina/sangue , Adulto , Idoso , Biópsia por Agulha Fina , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Risco , Neoplasias da Glândula Tireoide/epidemiologia , Tireoidectomia
9.
Arq. bras. endocrinol. metab ; 58(9): 912-917, 12/2014. tab, graf
Artigo em Inglês | LILACS | ID: lil-732190

RESUMO

Objective The objective of this study was to evaluate the efficacy and safety of percutaneous ethanol injection (PEI) in the treatment of benign thyroid nodules. Subjects and methods We evaluated 120 patients with benign thyroid nodules. Patients underwent evaluation of serum TSH and free T4, cervical ultrasound, and thyroid scintigraphy (in those with suppressed TSH levels). The application of sterile ethanol 99% was guided by ultrasound, with the injected volume amounting to one-third of the nodule volume. Response was considered complete (reduction of 90%); partial (reduction between 50 and 90%); or none (reduction of < 50%). Autonomous nodules were evaluated for normalization of TSH levels. Results Among the nodules studied, 30.8% were solid, 56.7% were mixed, 12.5% were cystic, and 21.6% were hyperfunctioning. The initial volume of the treated nodules ranged from 0.9 to 74.8 mL (mean 13.1 ± 12.4 mL). We performed 1-8 sessions of PEI, applying an average of 6.2 mL of ethanol for patient. After 2 years of follow-up, 17% of patients achieved a complete response (94% reduction); 53%, a partial response (70% reduction); and 30%, no response. A reduction in the volume of autonomous nodules was noted in 70% of cases, and 54% had a normalized value of TSH. The main side effect is local pain, lasting less than 24 hours in most cases. Conclusion This study showed that PEI is a safe and effective procedure for treatment of benign, solid or mixed thyroid nodules. Most cases resulted in significant reduction in nodule volume, with normalization of thyroid function. Arq Bras Endocrinol Metab. 2014;58(9):912-7 .


Objetivo O objetivo deste estudo foi avaliar a eficácia e segurança da injeção percutânea de etanol (IPE) no tratamento de nódulos tireoidianos benignos. Sujeitos e métodos Foram avaliados 120 pacientes com nódulos benignos de tireoide. Todos realizaram dosagens de TSH, T4 livre, ecografia cervical (US) e cintilografia de tireoide (em pacientes com TSH suprimido). A aplicação de etanol estéril a 99% foi guiada por US e o volume de etanol injetado correspondeu a um terço do volume nodular calculado. A resposta foi considerada completa (redução de 90%); parcial (redução entre 50 e 90%) ou ausência de resposta (redução menor que 50%). Nos nódulos autônomos, foi avaliada a normalização do TSH. Resultados Entre os nódulos estudados, 30,8% eram sólidos, 56,7% eram mistos, 12,5% eram císticos e 21,6%, nódulos hiperfuncionantes. O volume inicial dos nódulos tratados variou de 0,9 a 74,8 mL (média 13,1 ± 12,4 mL). Foram realizadas de 1 a 8 sessões de IPE (média 2,8), com aplicação média de 6,2 mL de etanol por paciente. Após dois anos de seguimento, 17% dos pacientes obtiveram resposta completa (redução de 94%), 53% obtiveram resposta parcial (redução de 70%) e 30% não responderam. Houve redução de volume nos nódulos autônomos em 70% dos casos, e 54% normalizaram o valor do TSH. Os efeitos colaterais registrados foram decorrentes apenas do desconforto no local de aplicação. Conclusão Este trabalho mostrou que a IPE é um procedimento seguro e eficaz para tratamento de nódulos benignos, sólidos ou mistos de tireoide. ...


Assuntos
Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Etanol/administração & dosagem , Bócio Nodular/tratamento farmacológico , Nódulo da Glândula Tireoide/tratamento farmacológico , Etanol/efeitos adversos , Seguimentos , Bócio Nodular/patologia , Bócio Nodular , Hipertireoidismo , Injeções Intralesionais/efeitos adversos , Injeções Intralesionais/métodos , Medição da Dor , Resultado do Tratamento , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide , Tireotropina/sangue , Tiroxina/sangue
10.
Arq Bras Endocrinol Metabol ; 58(9): 912-7, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25627046

RESUMO

OBJECTIVE: The objective of this study was to evaluate the efficacy and safety of percutaneous ethanol injection (PEI) in the treatment of benign thyroid nodules. SUBJECTS AND METHODS: We evaluated 120 patients with benign thyroid nodules. Patients underwent evaluation of serum TSH and free T4, cervical ultrasound, and thyroid scintigraphy (in those with suppressed TSH levels). The application of sterile ethanol 99% was guided by ultrasound, with the injected volume amounting to one-third of the nodule volume. Response was considered complete (reduction of 90%); partial (reduction between 50 and 90%); or none (reduction of < 50%). Autonomous nodules were evaluated for normalization of TSH levels. RESULTS: Among the nodules studied, 30.8% were solid, 56.7% were mixed, 12.5% were cystic, and 21.6% were hyperfunctioning. The initial volume of the treated nodules ranged from 0.9 to 74.8 mL (mean 13.1 ± 12.4 mL). We performed 1-8 sessions of PEI, applying an average of 6.2 mL of ethanol for patient. After 2 years of follow-up, 17% of patients achieved a complete response (94% reduction); 53%, a partial response (70% reduction); and 30%, no response. A reduction in the volume of autonomous nodules was noted in 70% of cases, and 54% had a normalized value of TSH. The main side effect is local pain, lasting less than 24 hours in most cases. CONCLUSION: This study showed that PEI is a safe and effective procedure for treatment of benign, solid or mixed thyroid nodules. Most cases resulted in significant reduction in nodule volume, with normalization of thyroid function.


Assuntos
Etanol/administração & dosagem , Bócio Nodular/tratamento farmacológico , Nódulo da Glândula Tireoide/tratamento farmacológico , Etanol/efeitos adversos , Feminino , Seguimentos , Bócio Nodular/diagnóstico por imagem , Bócio Nodular/patologia , Humanos , Hipertireoidismo/diagnóstico por imagem , Injeções Intralesionais/efeitos adversos , Injeções Intralesionais/métodos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Cintilografia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/patologia , Tireotropina/sangue , Tiroxina/sangue , Resultado do Tratamento , Ultrassonografia
11.
Arq. bras. endocrinol. metab ; 56(8): 507-512, Nov. 2012. ilus
Artigo em Inglês | LILACS | ID: lil-660258

RESUMO

We report on an adult woman with rare coexistence of acromegaly, pheochromocytoma (PHEO), gastrointestinal stromal tumor (GIST), intestinal polyposis, and thyroid follicular adenoma. At the age of 56, she was diagnosed with acromegaly caused by a pituitary macroadenoma, treated by transsphenoidal surgery, radiotherapy, and octreotide. During routine colonoscopy, multiple polyps were identified as tubular adenomas with high-grade dysplasia on histology. Years later, an abdominal mass of 8.0 x 6.2 cm was detected by routine ultrasound. Surgical exploration revealed an adrenal mass and another tumor adhered to the lesser gastric curvature, which were removed. Pathology confirmed the diagnosis of PHEO and GIST. PHEO immunohistochemistry was negative for GHRH. During follow-up, nodular goiter was found with normal levels of calcitonin and inconclusive cytology. Near-total thyroidectomy was performed, revealing a follicular adenoma. Her family history was negative for all of these tumor types. Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative. Though the finding of PHEO and acromegaly with multiple other tumors could be a fortuitous coexistence, we suggest that this case may represent a new variant of MEN syndrome with a de novo germline mutation in a not yet identified gene. Arq Bras Endocrinol Metab. 2012;56(8):507-12.


Relatamos o caso de uma mulher com rara coexistência de acromegalia, feocromocitoma (FEO), tumor do estroma gastrointestinal (GIST), polipose intestinal e adenoma folicular de tireoide. Aos 56 anos, ela foi diagnosticada com acromegalia por um macroadenoma hipofisário, tratado com cirurgia transesfenoidal, radioterapia e octreotide. Uma colonoscopia de rotina detectou múltiplos pólipos, que à histologia eram adenomas tubulares com alto grau de displasia. Anos mais tarde, uma ecografia detectou uma massa abdominal de 8.0 x 6.2 cm, que na exploração cirúrgica era uma lesão adrenal e outro tumor aderido à pequena curvatura gástrica. A patologia confirmou os diagnósticos de FEO e GIST. A imuno-histoquímica do FEO foi negativa para GHRH. No seguimento, encontrou-se um bócio nodular com níveis normais de calcitonina e citologia inconclusiva. Após tireoidectomia total o diagnóstico histológico foi de adenoma folicular. A história familiar era negativa para todos esses tumores. As análises genéticas para genes de síndromes de FEO/paragangliomas (SDH A-D, SDHAF2, RET, VHL, TMEM127 e MAX) e para hipofisárias (AIP, MEN1 e p27) foram todas negativas. Embora a presença de FEO e acromegalia com múltiplos outros tumores possa ser uma coexistência fortuita, acreditamos na possibilidade de uma nova variante de NEM com uma mutação germinativa de novo em um gene ainda não identificado Arq Bras Endocrinol Metab. 2012;56(8):507-12.


Assuntos
Idoso , Feminino , Humanos , Adenoma/genética , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias Gastrointestinais/genética , Tumores do Estroma Gastrointestinal/genética , Neoplasias Primárias Múltiplas/genética , Feocromocitoma/genética , Neoplasias da Glândula Tireoide/genética , Acromegalia/complicações , Acromegalia/genética , Mutação
12.
Arq Bras Endocrinol Metabol ; 56(8): 507-12, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23295290

RESUMO

We report on an adult woman with rare coexistence of acromegaly, pheochromocytoma (PHEO), gastrointestinal stromal tumor (GIST), intestinal polyposis, and thyroid follicular adenoma. At the age of 56, she was diagnosed with acromegaly caused by a pituitary macroadenoma, treated by transsphenoidal surgery, radiotherapy, and octreotide. During routine colonoscopy, multiple polyps were identified as tubular adenomas with high-grade dysplasia on histology. Years later, an abdominal mass of 8.0 x 6.2 cm was detected by routine ultrasound. Surgical exploration revealed an adrenal mass and another tumor adhered to the lesser gastric curvature, which were removed. Pathology confirmed the diagnosis of PHEO and GIST. PHEO immunohistochemistry was negative for GHRH. During follow-up, nodular goiter was found with normal levels of calcitonin and inconclusive cytology. Near-total thyroidectomy was performed, revealing a follicular adenoma. Her family history was negative for all of these tumor types. Genetic analysis for PHEO/paraganglioma genes (SDH A-D, SDHAF2, RET, VHL, TMEM127, and MAX), and pituitary-related genes (AIP, MEN1, and p27) were negative. Though the finding of PHEO and acromegaly with multiple other tumors could be a fortuitous coexistence, we suggest that this case may represent a new variant of MEN syndrome with a de novo germline mutation in a not yet identified gene.


Assuntos
Adenoma/genética , Neoplasias das Glândulas Suprarrenais/genética , Neoplasias Gastrointestinais/genética , Tumores do Estroma Gastrointestinal/genética , Neoplasias Primárias Múltiplas/genética , Feocromocitoma/genética , Neoplasias da Glândula Tireoide/genética , Acromegalia/complicações , Acromegalia/genética , Idoso , Feminino , Humanos , Mutação
13.
RBM rev. bras. med ; 67(1/2)jan.-fev. 2010.
Artigo em Português | LILACS | ID: lil-577569

RESUMO

O diabetes mellitus tipo 2 (DM2) compreende 90% a 95% de todos os casos de diabetes, tem etiologia poligênica e está intrinsecamente ligado à obesidade, sobretudo visceral. O aumento mundial da sua incidência reflete, em última instância, as modificações dietético-comportamentais da população atual. Caracteriza-se por defeitos na ação e secreção de insulina, gerando um estado de hiperglicemia persistente que, apesar de assintomático ao início, resulta em complicações micro e macrovasculares no transcorrer da sua evolução, o que o torna hoje uma das doenças mais dispendiosas aos sistemas de saúde. O propósito deste artigo é esclarecer os atuais critérios diagnósticos do DM2 e a importância da abordagem terapêutica precoce e eficaz, capaz de evitar a progressão das complicações vasculares.

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