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1.
Clin Endocrinol (Oxf) ; 100(3): 269-276, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38214123

RESUMO

OBJECTIVE: The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases >5 mm/year. To investigate the aortic growth rate in TS and TS-related conditions associated with aortic growth. We also reported our experience of women who suffered aortic dissection (AoD), and who had preventive aortic replacement. METHODS: 151 adult TS were retrospectively identified. Women who had more than one transthoracic echocardiogram (TTE) after age 16 years were included in the aortic growth study. Aortic diameters at sinuses of Valsalva (SoV) and ascending aorta (AA) were analysed by two experts. RESULTS: 70/151 women had more than one TTE (interscan interval 4.7 years). Mean aortic growth was 0.13 ± 0.59 mm/year at SoV and 0.23 ± 0.82 mm/year at AA. Known risk factors for aortic dilatation and TS-related conditions were not associated with aortic growth. 4/151 women experienced AoD (age 25±8 years): two had paired scans for aortic growth, which was 0.67 mm/year at both SoV and AA in the first woman, and 11 mm/year (SoV) and 4 mm/year (AA) in the second. Only 1/4 of women with AoD survived; she used a TS cardiac-alert card to inform emergency personnel about her risk of AoD. 5/151 had a preventive aortic replacement, but one died post-operatively. CONCLUSIONS: Mean aortic growth in our TS population was increased compared to non-TS women and was not associated with currently known risk factors for AoD, suggesting that aortic growth rate itself could be a useful variable to stratify who is at risk for AoD.


Assuntos
Doenças da Aorta , Dissecção Aórtica , Síndrome de Turner , Adulto , Feminino , Humanos , Adolescente , Adulto Jovem , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Estudos Retrospectivos , Doenças da Aorta/complicações , Doenças da Aorta/epidemiologia , Medição de Risco
2.
Clin Endocrinol (Oxf) ; 99(1): 64-72, 2023 07.
Artigo em Inglês | MEDLINE | ID: mdl-36905085

RESUMO

BACKGROUND: Population studies suggest cancer morbidity may be different in Turner syndrome (TS) compared to the background female population. However, significant variability is observed in cancer associations likely due to heterogeneity in patient cohorts. We explored the prevalence and patterns of cancer amongst a cohort of women with TS attending a dedicated TS clinic. METHODS: Retrospective analysis of the patient database was performed to identify TS women who developed cancer. Population data (available before 2015) from the National Cancer Registration and Analysis Service database were used for comparison. RESULTS: Out of 156 TS women, median age of 32 (range 18-73) years, 9 (5.8%) had a recorded cancer diagnosis. Types of cancers were, bilateral gonadoblastoma, type 1 gastric neuroendocrine tumour (NET), appendiceal-NET, gastrointestinal stromal tumour, plasma cell dyscrasia, synovial sarcoma, cervical cancer, medulloblastoma and aplastic anaemia. Median age at cancer diagnosis was 35 (range 7-58) years and two were detected incidentally. Five women had 45,X karyotype, three received growth hormone treatment and all except one received oestrogen replacement therapy. The cancer prevalence of the background age-matched female population was 4.4%. CONCLUSIONS: We confirm the previous observations that women with TS do not appear to be at overall increased risk of common malignancies. Our small cohort showed a spectrum of rare malignancies that are not typically associated with TS, except for a single patient with a gonadoblastoma. The slightly higher prevalence of cancer in our cohort might simply represent increased cancer prevalence in the background population, or might be related to small sample size and regular monitoring of these women due to TS per se.


Assuntos
Neoplasias Ovarianas , Síndrome de Turner , Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Estudos Retrospectivos
3.
Fertil Steril ; 114(1): 144-154, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32622407

RESUMO

OBJECTIVE: To study fertility issues and pregnancy outcomes in Turner syndrome (TS). DESIGN: Retrospective cohort study. SETTING: Not applicable. PATIENT(S): One hundred fifty-six TS patients, median age 32 years, 23 mosaic 45,X/46,XX, 45,X/47,XXX, 45,X/46,XX/47,XXX. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Fertility choices, spontaneous pregnancy, and oocyte donation (OD) outcomes. Conditions associated with aortic dissection and poor pregnancy outcomes at preconception were considered. Pregnancy-related aortic dimension changes and the long-term impact of pregnancy on TS-related comorbidities were assessed. RESULTS(S): In all, 13.5% had spontaneous pregnancies, resulting in a pregnancy with live birth in 18 patients (37 newborns); 16% considered OD, one adopted, and one underwent fertility preservation. Spontaneous pregnancy predictive factors were a karyotype with a second or third cell line with more than one X and spontaneous menarche. In all, 47.6% had miscarriages, two experienced preeclampsia, and two had gestational diabetes. One daughter was diagnosed with TS in adulthood. Seven of 14 who attempted OD had a pregnancy with live birth; two of seven had gestational diabetes; 64.3% attempting OD had risk factors associated with poor pregnancy outcomes, including four who had double embryo transfer. Cardiac status at preconception was evaluated in 12 of 25 women who had a pregnancy. The aortic diameters during pregnancy increased. The aortic growth at sinuses was 0.51 ± 0.71 mm/year and at ascending aorta 0.67 ± 0.67 mm/year, reaching a significant difference at sinuses compared with the growth in nulliparous TS. Among women who had a pregnancy, none experienced aortic dissection during and in the years after pregnancy. CONCLUSION(S): This study highlights the importance of a TS-dedicated multidisciplinary management of pregnancy, before and during pregnancy and in the postpartum period.


Assuntos
Fertilidade , Infertilidade Feminina/terapia , Técnicas de Reprodução Assistida , Síndrome de Turner/complicações , Adolescente , Adulto , Comorbidade , Feminino , Humanos , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/etiologia , Nascido Vivo , Gravidez , Resultado da Gravidez , Técnicas de Reprodução Assistida/efeitos adversos , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Resultado do Tratamento , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Síndrome de Turner/fisiopatologia , Adulto Jovem
4.
Endocr Connect ; 8(8): 1082-1088, 2019 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-31265996

RESUMO

BACKGROUND: The 24-h urinary output of 5-hydroxyindoleacetic acid (5-HIAA) is used to monitor disease progression and treatment responses of neuroendocrine neoplasms (NENs). Several conditions are required for 5-HIAA assay, involving urine collection/preservation and food/drug restrictions. AIM: To evaluate the correlation between 5-HIAA concentration in a spot urine sample and the output in a 24-h urine collection, and whether spot urine specimens can replace 24-h collection. METHODS: Patients with NENs or symptoms suggestive of NENs were asked to provide a separate spot urine at the end of the 24-h urine collection for 5-HIAA assessment. The upper reference limit for 24-h urinary 5-HIAA was 40 µmol/24 h. 5-HIAA measurements in spot urine samples were corrected for variation in urine flow rate by expressing results as a ratio to creatinine concentration. RESULTS: We included 136 paired urinary samples for 5-HIAA assessment from 111 patients (100 NENs). The correlation between 5-HIAA values measured in 24-h and spot urines was r = +0.863 (P < 0.001) and r = +0.840 (P < 0.001) including only NEN patients. Using the 24-h urinary 5-HIAA as reference method, the AUC on ROC analysis for spot urinary 5-HIAA was 0.948 (95% CI, 0.914-0.983; P < 0.001), attaining a sensitivity of 83% and specificity of 95% using 5.3 mol/mmol as cut-off for the spot urine. The AUC among NEN patients alone was 0.945 (95% CI, 0.904-0.987; P < 0.001). CONCLUSIONS: The ratio of 5-HIAA to creatinine in a spot urine could replace the measurement of 5-HIAA output in a 24-h urine collection, especially for follow-up of patients with known elevated 5-HIAA levels.

5.
Clin Endocrinol (Oxf) ; 89(5): 667-676, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-29992593

RESUMO

OBJECTIVE: Abnormal liver function tests (LFTs) are frequent in Turner syndrome (TS). The causes and clinical significance are unclear. AIMS: To investigate the prevalence of elevated LFTs in adult TS; secondly, to analyse the associations between elevated LFTs, TS-karyotypes and TS-related conditions; and thirdly, to evaluate liver stiffness and histological assessment. METHODS: A total of 125 TS women were retrospectively studied. Karyotypes, clinical and biochemical details and aortic measurements were recorded. Fibroscan and liver biopsy results were noted. RESULTS: Elevated LFTs were found in 49.6%: gamma-glutamyltransferase (GGT) in 88.7%, ALK in 45.2%, ALT in 40.3% and AST in 29%. A FIB-4 index >1.3 was found in 11.8%. Women with isochromosome of the X long arm, iso[X](q), had a higher prevalence of elevated LFTs. A lower prevalence of abnormal GGT was found in patients with 45,X/46,XX, 45,X/47,XXX or 45,X/46,XX/47,XXX. Subjects with raised GGT were older, shorter and more likely to have higher triglyceride levels. There was no association with HRT duration after adjusting for age. Among patients with elevated aminotransferases, no differences were noted, except for higher HDL-cholesterol levels. The sinuses and ascending aorta diameter were greater in the elevated LFTs group. Fibroscan was suggestive of significant liver fibrosis in 38.1%. Among 11 biopsies, liver architectural changes were reported in 45.4%, including two with cirrhosis. CONCLUSIONS: Elevated LFTs in TS are common and important to detect given the possible progression towards severe liver disease. An association between raised LFTs and karyotype iso[X]q was demonstrated. We have also shown a new association between abnormal LFTs and aortic dilatation.


Assuntos
Hepatopatias/metabolismo , Fígado/metabolismo , Síndrome de Turner/metabolismo , Adolescente , Adulto , Idoso , Biópsia , Feminino , Humanos , Cariótipo , Cariotipagem , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
6.
Eat Weight Disord ; 22(1): 27-41, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27553017

RESUMO

Vitamin D is a fat-soluble vitamin and a steroid hormone that plays a central role in maintaining calcium-phosphorus and bone homeostasis in close interaction with parathyroid hormone, acting on its classical target tissues, namely, bone, kidney, intestine, and parathyroid glands. However, vitamin D endocrine system regulates several genes (about 3 % of the human genome) involved in cell differentiation, cell-cycle control, and cell function and exerts noncalcemic/pleiotropic effects on extraskeletal target tissues, such as immune and cardiovascular system, pancreatic endocrine cells, muscle, and adipose tissue. Several studies have demonstrated the role of vitamin D supplementation in the prevention/treatment of various autoimmune diseases and improvement of glucose metabolism, muscle, and adipose tissue function. Hence, this review aims to elucidate the effects of vitamin D on extraskeletal target tissues and to investigate the potential therapeutic benefit of vitamin D supplementation among a broad group of pathological conditions, especially with regard to metabolic and autoimmune diseases. In addition, we focused on the best daily intakes and serum levels of vitamin D required for extraskeletal benefits which, even if still controversial, appear to be higher than those widely accepted for skeletal effects.


Assuntos
Sistema Cardiovascular/efeitos dos fármacos , Suplementos Nutricionais , Sistema Imunitário/fisiologia , Vitamina D/administração & dosagem , Vitamina D/sangue , Tecido Adiposo/efeitos dos fármacos , Fenômenos Fisiológicos Cardiovasculares , Humanos , Sistema Imunitário/efeitos dos fármacos
7.
Pituitary ; 19(4): 356-61, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-26879322

RESUMO

INTRODUCTION: Chordoid glioma of the third ventricle is a rare and recently described tumor characterized by a unique histomorphology and exclusive association with the suprasellar/third ventricular compartment. Its clinical, radiological and histological features may vary. Despite the fact that chordoid glioma is a low-grade tumor, its prognosis has been relatively poor because of its insidious presentation and the difficulty in obtaining complete surgical resection. MATERIALS AND METHODS: Here, we report on a new case of chordoid glioma occurring in a 48-year-old woman, presented with hyponatremia, and on the initial work-up with a diagnosis of hyponatremia due at least in part to SIADH. We review the current literature on this rare pathology, discuss the radiological and histopathologic findings, and discuss the optimal management of chordoid glioma in general. CONCLUSION: Based on this new case and the previous literature reports, we suggest that chordoid glioma should be included in the differential diagnosis of uncommon masses of the third ventricle, especially in middle-aged women, and we emphasize current management guidelines.


Assuntos
Neoplasias do Ventrículo Cerebral/complicações , Glioma/complicações , Síndrome de Secreção Inadequada de HAD/etiologia , Neoplasias do Ventrículo Cerebral/diagnóstico por imagem , Neoplasias do Ventrículo Cerebral/patologia , Neoplasias do Ventrículo Cerebral/cirurgia , Feminino , Glioma/patologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Doenças Raras/complicações , Doenças Raras/patologia , Terceiro Ventrículo/diagnóstico por imagem , Terceiro Ventrículo/cirurgia
8.
Int J Endocrinol ; 2012: 789653, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22235202

RESUMO

Clinical evidence shows that in males obesity is frequently associated with hypogonadism and vice versa; also, low testosterone levels have been considered a "hallmark" of metabolic syndrome in men. These observations indicate that there is a strict connection between anatomically and functionally distinct cell types such as white adipocytes and Leydig cells, that synthesize testosterone. Adipose tissue is able to control several functions of the testis through its products secreted in the bloodstream. On the other hand, circulating levels of testosterone and estradiol deeply affect adipocyte proliferation, differentiation, and fat mass distribution, hereby controlling critical metabolic functions, such as food intake, insulin sensitivity, vascular reactivity, and immunity. This paper highlights the existing clinical and experimental evidence linking androgens and adipose tissue and illustrates the consequences occurring when the balance between fat mass distribution and eugonadism is lost.

9.
J Sex Med ; 8(3): 696-704, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21176111

RESUMO

INTRODUCTION: Prolonged tadalafil administration in men with erectile dysfunction is associated with increased testosterone (T): estradiol (E(2)) ratio mainly related to reduction of E(2) levels. AIM: To investigate the presence of phosphodiesterase type 5 (PDE5) isoenzyme in primary human visceral adipocytes and whether different PDE5 inhibitors (PDE5i) could directly modulate aromatase (ARO) expression in differentiated human visceral adipocytes in culture. MAIN OUTCOME MEASURES: PDE5 mRNA and protein expression in primary human visceral adipocytes as well as mRNA and protein expression of ARO, with functional activity after selective PDE5 blockade by tadalafil and sildenafil. METHODS: Purified primary human visceral pre-adipocytes were differentiated ex vivo and were exposed to tadalafil or sildenafil (1 µM) for different intervals of time (6-12-24-96 hours). ARO mRNA content and expression were measured by Western Blot and quantitative reverse transcription-polymerase chain reaction (qRT-PCR), respectively. T and E(2) in supernatants were measured by ELISA also in the presence of letrozole. RESULTS: Differentiated adipocytes were found to express detectable levels of PDE5 transcripts. Acute exposure (6 hours) to both PDE5i tadalafil and sildenafil increased ARO mRNA expression by 4.7- and 2.8-fold, respectively (P < 0.001). ARO mRNA and protein levels were increased by the treatment with PDE5i in a time- and dose-dependent manner. Such effect was mimicked by 8-bromo-cGMP but was lost after 24 and 96 hours; differently, the PDE3B specific inhibitor milrinone (1 µM), displayed no effect. Accordingly, long-term exposure (24 and 96 hours) to PDE5i caused a significant increase in E(2) concentrations in the supernatant (1.7 and 2 fold, respectively; P < 0.001), with a parallel reduction of T (15% and 30%, respectively; P < 0.001). Such effect was reversed by the co-incubation with the specific ARO-inhibitor letrozole. CONCLUSIONS: Our results demonstrate that PDE5 is expressed in human visceral adipocytes and that acute exposure to PDE5i selectively stimulates ARO expression, which is related to a specific PDE5 blockade. We speculate that modulation of ARO activity by PDE5i could be one of the mechanisms responsible, at least in part, for the beneficial effects of PDE5i on endothelial and metabolic functions.


Assuntos
Adipócitos/efeitos dos fármacos , Aromatase/biossíntese , Inibidores da Fosfodiesterase 5/farmacologia , Adipócitos/enzimologia , Adipócitos/metabolismo , Western Blotting , Carbolinas/farmacologia , Células Cultivadas , Relação Dose-Resposta a Droga , Ativação Enzimática/efeitos dos fármacos , Humanos , Técnicas In Vitro , Masculino , Piperazinas/farmacologia , Purinas/farmacologia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Citrato de Sildenafila , Sulfonas/farmacologia , Tadalafila
10.
J Cell Biochem ; 110(3): 564-72, 2010 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-20512917

RESUMO

White adipose tissue (WAT) is no longer considered a depot for energy storage in the form of triglycerides, but is a secretory organ that releases factors, known as adipokines, capable of regulating several physiological processes. Alteration of WAT function with subsequent dysfunctional expression and secretion of adipokines plays a key role in the pathogenesis of obesity, diabetes, and other metabolic diseases. For this reason, a deeper understanding of the molecular mechanisms regulating adipocyte function is deemed necessary for planning strategies to treat and prevent obesity and its metabolic complications. This review examines cell culture models currently available for studying adipocyte biology. We focus on advantages, disadvantages and main differences between established preadipocyte cell lines and primary preadipocyte cultures. We revise protocols used to promote adipocyte differentiation and mature adipocytes dedifferentiation into preadipocytes. Finally, we briefly describe co-cultures of adipocytes with other cell types and three-dimensional adipocyte culture systems. These models allow investigation of cell-cell interactions with the cross-talk physiologically occurring between adipocytes and other cell types residing within or outside adipose tissue.


Assuntos
Adipogenia/fisiologia , Tecido Adiposo/citologia , Tecido Adiposo/fisiologia , Técnicas de Cultura de Células/métodos , Células Cultivadas/citologia , Obesidade/fisiopatologia , Animais , Diferenciação Celular , Humanos , Células-Tronco
11.
Eur J Ophthalmol ; 20(3): 625-8, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20099234

RESUMO

PURPOSE: Branch retinal artery occlusion caused by calcific embolization secondary to calcific aortic valvulopathy. METHODS: A 45-year-old woman came to our attention complaining a sudden painless loss of her peripheral superior visual field. Best visual acuity was 20/20. Fundus examination revealed the presence of a retinal arterial embolic occlusion of the inferior branch. Fundus retinography, visual field, and fluorescein angiography were performed and medical therapy was started. The echocardiography examination revealed a tricuspid and calcified aortic valve with moderate stenosis and regurgitation. Due to the heart pathology, the patient moved to the cardiosurgery department, where an aortic valve replacement was performed. RESULTS: Four months after cardiac surgery, visual acuity of both eyes was stable (20/20). Fundus examination showed a complete reabsorption of the retinal edema and the resolution of retinal pallor. Fluorescein angiography confirmed the delay of the arterial filling. No retinal ischemia was observed. The visual field examination confirmed the deep scotoma previously registered. CONCLUSIONS: Retinal arterial embolization is a rare but potentially devastating complication of calcific aortic stenosis. Initial retinal presentation of calcific aortic stenosis is a rare condition. Keeping in mind that these emboli may be recurrent and potentially bilateral, a sudden onset of visual field defects, especially in young asymptomatic patients, needs immediate diagnosis and consideration of an urgent surgical correction.


Assuntos
Estenose da Valva Aórtica/complicações , Calcinose/complicações , Embolia/etiologia , Oclusão da Artéria Retiniana/etiologia , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/cirurgia , Calcinose/diagnóstico por imagem , Calcinose/cirurgia , Ecocardiografia , Ecocardiografia Doppler , Embolia/diagnóstico por imagem , Embolia/cirurgia , Feminino , Angiofluoresceinografia , Humanos , Pessoa de Meia-Idade , Oclusão da Artéria Retiniana/diagnóstico , Transtornos da Visão/etiologia , Testes de Campo Visual , Campos Visuais
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