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1.
Vnitr Lek ; 65(1): 51-54, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30823838

RESUMO

Acromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor 1 (IGF1) levels accompanying this disease is associated with complications such as cardiomyopathy, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-4 patients per million per year. Klinefelter syndrome (KS) is the most common sex chromosome disorder occuring in about 1/500 live male births. Common physical features include particularly small testes, among other symptoms are tall stature, reduced muscle tone, delayed pubertal development, lack of secondary male sex characteristics and gynecomastia. We present a 32-year-old man suffering from both acromegaly and 47, XXY Klinefelter syndrome. The patient with typical acromegalic features. Laboratory tests revealed high level of GH which was not suppressed after glucose administration, high level of IGF1, low testosterone concentration with high concentation of luteinizing hormone and follicle stimulating hormone. A magnetic resonance imaging scan revealed a 25 × 18 × 18 mm macroadenoma involving the pituitary gland. A diagnosis of acromegaly was established. After this examination trans-sphenoidal resection was performed. Histopathologic and immunohistochemical findings revealed growth hormoneproducing pituitary adenoma. The presence of infertility with clinical features such as small testes, lack of secondary male sex characteristics and laboratory findings revealed hypergonadotropic hypogonadism that could not be explained by the diagnosis of acromegaly. A chromosomal karyotyping revealed a 47, XXY, confirming the diagnosis of KS. Testosterone replacement therapy wasn´t begun because of patient disagreement Postoperatively elevated plasma concentration of GH and IGF1 levels persist. Treatment by somatostatin analogues (lanreotid) was initiated at dose 120 mg every 28 days. Control magnetic resonance imaging of the sella demonstrated a residue of pituary adenoma size 14 × 14 × 7 mm. The patient is currently undergoing endoscopic revision of the residue. acromegaly - growth hormone - IGF1 - Klinefelter syndrome - testosterone.


Assuntos
Acromegalia , Adenoma , Síndrome de Klinefelter , Neoplasias Hipofisárias , Acromegalia/complicações , Acromegalia/diagnóstico , Acromegalia/genética , Adenoma/complicações , Adenoma/diagnóstico , Adenoma/genética , Adulto , Hormônio do Crescimento Humano , Humanos , Fator de Crescimento Insulin-Like I , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/genética , Masculino , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/diagnóstico , Neoplasias Hipofisárias/genética
2.
Eur J Endocrinol ; 180(3): 201-211, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30566903

RESUMO

Introduction Impaired bone microarchitecture is involved in vertebral fracture (VF) development among acromegaly patients. Aim of the study Comparison of DXA-derived bone parameters, areal BMD (aBMD), trabecular bone score (TBS) and 3D-SHAPER parameters in acromegaly patients with healthy controls. Methods This cross-sectional study evaluated acromegaly patients and a control group of healthy subjects. In all subjects, a single measurement of pituitary axis hormone levels, bone turnover markers, aBMD, (total hip (TH) and lumbar spine (LS)), TBS and 3D-SHAPER of the proximal femur region was performed. All subjects underwent DXA assessment of VF using the semiquantitative approach. Results One hundred six patients with acromegaly (mean age 56.6 years, BMI 30.2 kg/m2) and 104 control subjects (mean age 54.06 years, 28.4 BMI kg/m2) were included. After adjustment for weight, LS aBMD, TBS and TH trabecular volumetric BMD (vBMD) remained lower (P = 0.0048, <0.0001 and <0.0001, respectively) while cortical thickness (Cth) at TH and neck remained thicker (P = 0.006) in acromegaly patients compared with controls. The best multivariate model (model 1) discriminating patients with and without acromegaly included TBS, TH trabecular vBMD and TH Cth parameters (all P < 0.05). Twenty-two VFs (13 acromegaly subjects) were recognized. In these subjects after adjustment for age, FN aBMD, TH cortical sBMD and TH cortical vBMD remained significantly associated with the prevalent VF (OR = 2.69 (1.07-6.78), 2.84 (1.24-6.51) and 2.38 (1.11-5.10) for neck aBMD, TH cortical sBMD and TH cortical vBMD respectively)). The AUCs were similar for each parameter in this model. Conclusions Acromegaly patients, regardless of VF presence, have lower trabecular bone quantitative parameters, but those with VFs had decreased cortical density.


Assuntos
Absorciometria de Fóton , Acromegalia/diagnóstico por imagem , Vértebras Lombares/diagnóstico por imagem , Fraturas da Coluna Vertebral/diagnóstico por imagem , Acromegalia/complicações , Acromegalia/terapia , Adulto , Idoso , Índice de Massa Corporal , Peso Corporal , Densidade Óssea , Osso e Ossos/diagnóstico por imagem , Estudos de Casos e Controles , Estudos Transversais , Feminino , Humanos , Hipogonadismo/epidemiologia , Imageamento Tridimensional , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fraturas da Coluna Vertebral/epidemiologia
3.
Horm Metab Res ; 50(8): 609-614, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29954010

RESUMO

Chemokine CX3CL1 (fractalkine) may be an important factor linking thyroid status and bone remodeling, through tetrac, a derivative of thyroxine. This study explores the relationship between serum fractalkine levels and parameters of thyroid status and bone in premenopausal women with Graves' disease (GD) in comparison to healthy controls. This cross-sectional study included three premenopausal female groups: active GD; cured GD, and healthy age-, gender-, and BMI-matched controls. Measurement of serum fractalkine levels (Quantikine® ELISA), total amino-terminal peptide of procollagen type 1 (P1NP), CTx, thyroid hormones, BMD and trabecular bone score (TBS) were performed in all study subjects. Sixty women (21, 16, and 23 in active GD, cured GD, and healthy control groups, respectively) were included. Serum fractalkine levels were higher (p<0.05) in active and cured GD subjects compared to healthy controls (mean 0.7±0.14; 0.93±0.15, and 0.48±0.13 ng/ml, respectively). Lumbar spine BMD was lowest in the cured GD group in comparison to active GD and control group subjects (0.926±0.03; 1.016±0.03; 1.051±0.03 g/cm2; p<0.05, respectively). TBS was lower (p<0.05) in both GD groups than controls being lowest in those with active GD (1.395±0.02; 1.402±0.02, 1.469±0.02, respectively). Serum fractalkine concentration was positively correlated with fT4, and negatively correlated with TBS values. GD in pre-menopausal females is associated with increased serum fractalkine concentration and decreased TBS. Fractalkine may be a currently unappreciated link between hyperthyroidism and bone; further research into this possibility is needed.


Assuntos
Osso Esponjoso/química , Quimiocina CX3CL1/sangue , Doença de Graves/sangue , Pré-Menopausa/sangue , Adulto , Biomarcadores/sangue , Densidade Óssea , Estudos Transversais , Feminino , Doença de Graves/fisiopatologia , Humanos , Fragmentos de Peptídeos/sangue , Pré-Menopausa/fisiologia , Pró-Colágeno/sangue , Hormônios Tireóideos/sangue
4.
Vnitr Lek ; 64(4): 432-436, 2018.
Artigo em Tcheco | MEDLINE | ID: mdl-29791178

RESUMO

Combination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility. Virilisation may be evident among TS women with chromosome Y 45, X/46, XY. We present a 57 year old woman suffering from both TS 45, X/46, XX and 21-hydroxylase deficiency. Based on the intersex, she was misdiagnosed as a male after the birth. Dominant signs were intrauterine growth retardation and Prader 5 virilisation of the external genitalia. Testes were not palpable. Laparoscopy at the age of 6 showed uterus and ovaries. After this examination, clitoroplasty and vaginoplasty was performed. Karyotyping revealed a 45, X/46, XX pattern. The presence of virilising features at the time of puberty however could not be explained with the diagnosis of Turner syndrome. Laboratory tests revealed elevated level of 17-hydroxyprogesterone, dehydroepiandrosterone with low cortisol concentration and elevated ACTH. With the genomic analysis CYP21A2 gene, namely IN2G (IVS 2-13 A/C>G), large deletion/conversion was detected. Glucocorticoid treatment was initiated. Due to increased plasma renin concentration, fludrocortisone therapy was also initiated. Within this therapy, patient´s state improved significantly.Key words: congenital adrenal hyperplasia - CYP21A2 - Turner syndrome - 21-hydroxylase deficiency.


Assuntos
Hiperplasia Suprarrenal Congênita , Síndrome de Turner , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/diagnóstico , Hiperplasia Suprarrenal Congênita/genética , Feminino , Glucocorticoides , Humanos , Pessoa de Meia-Idade , Esteroide 21-Hidroxilase/genética , Síndrome de Turner/complicações , Síndrome de Turner/genética
5.
Vnitr Lek ; 63(9): 589-592, 2017.
Artigo em Tcheco | MEDLINE | ID: mdl-29120655

RESUMO

The impact of acromegaly on bone and the risk of fractures has not been sufficiently investigated. GH hypersecretion stimulates bone turnover, leading to an increase in bone turnover markers. Normal or even increased bone mineral density (BMD) in comparison to healthy controls have been reported, but there are some works where decreased BMD was observed among acromegaly patients with hypogonadism, particularly at lumbar spine. Less pronounced effect of GH overproduction was observed at the femoral neck, as explained by the positive effect of hypersecretion on the cortical bone (due to periosseal ossification). Several studies have documented morphometric vertebral fractures (VF) in 1/3 of acromegaly patients. The major risk factors leading to the development of VF include hypogonadism, diabetes mellitus and previous VF. Because the risk of fractures does not correlate with BMD most of the studies are currently focused on bone quality, bone strength and microstructure.Key words: bone microstructure - growth hormone - IGF1 - vertebral fractures.


Assuntos
Acromegalia/fisiopatologia , Remodelação Óssea/fisiologia , Densidade Óssea/fisiologia , Fraturas Ósseas/fisiopatologia , Humanos
6.
Vnitr Lek ; 63(6): 403-408, 2017.
Artigo em Tcheco | MEDLINE | ID: mdl-28840736

RESUMO

OBJECTIVE: The aim of proposed paper was to compare a three total 25-hydroxy-vitamin D immunoassays to that of HPLC with UV detection. MATERIAL AND METHODS: Serum 25-(OH) D levels were measured from blood samples of 109 patients with different immunoassays (ABBOTT, ROCHE, SIEMENS) and method of HPLC which was chosen as the reference. In the first step immunoassays were compared to HPLC. In the second step immunoassays were compared to each other. Further purpose of methods comparison the Passing-Bablok regression and Bland-Altman analysis were used. The limits of maximum acceptable differences were set at 21.5 %, according to Vitamin D Standardization-Certification Program (VDSCP). In the last step, the concordance in the interpretation of measured results was evaluated. RESULTS: None of the examined 25-(OH) D immunoassays was comparable to HPLC and to each other. Bland-Altman analysis revealed, in comparison to HPLC, that ROCHE showed positive bias +28.0 %, ABBOTT +0.2 % and SIEMENS -23.4 %. Although average bias of ABBOTT immunoassay is insignificant, particular results do deviate significantly (-89.4 % to 89.0 %). The concordance in the interpretation of measured results, in comparison to HPLC, was highest with ABBOTT (65.21 %), then with ROCHE (59.63 %) and lowest with SIEMENS (47.79 %). CONCLUSION: The results of the proposed papers suggest low levels of 25-(OH) D immunoassays standardization and an alternative to use assay-specific decision limits.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Imunoensaio/métodos , Vitamina D/análogos & derivados , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Vitamina D/sangue , Adulto Jovem
7.
BMC Cardiovasc Disord ; 17(1): 117, 2017 05 08.
Artigo em Inglês | MEDLINE | ID: mdl-28482816

RESUMO

BACKGROUND: The role of vaspin in the pathogenesis of stable coronary artery disease (SCAD) have been repeatedly addressed in clinical studies. However, from the point of view of clinical practice, the results of earlier studies are still inconclusive. METHODS: The data of 106 SCAD patients who received coronary angiography and 85 coronary artery disease-free controls were collected and analysed. The patients were divided into subgroups according to their pre-test probability (PTP) and according to the result of coronary angiography. Fasting vaspin concentrations were compared between subgroups of SCAD patients and between target group and controls. The effect of age and smoking on the result of coronary angiography was compared to the effect of vaspin using the binomial regression. RESULTS: We did not find significant difference in vaspin level between target group and controls. Unless the pre-test probability was taken into account, we did not find vaspin difference in the target group, when dividing patients on the basis of presence/absence of significant coronary stenosis. In the subgroup of SCAD patients with PTP between 15% - 65%, those with significant coronary stenoses had higher mean vaspin concentration (0,579 ± 0,898 ng/ml) than patients without significant stenoses. (0,379 ± 0,732 ng/ml) (t = -2595; p = 0,012; d = 0,658; 1-ß = 0,850). Age, smoking status and vaspin significantly contributed to the HSCS prediction in binomial regression model in patients with low PTP (OR: 1.1, 4.9, 8.7, respectively). CONCLUSION: According to our results, vaspin cannot be used as an independent marker for the presence of CAD in general population. However, our results indicate that measuring vaspin in SCAD patients might be clinically useful in patients with PTP below 66%.


Assuntos
Angiografia Coronária , Doença da Artéria Coronariana/sangue , Doença da Artéria Coronariana/diagnóstico por imagem , Estenose Coronária/sangue , Estenose Coronária/diagnóstico por imagem , Serpinas/sangue , Idoso , Biomarcadores/sangue , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Jejum/sangue , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Índice de Gravidade de Doença
8.
Vnitr Lek ; 63(2): 139-144, 2017.
Artigo em Tcheco | MEDLINE | ID: mdl-28334546

RESUMO

Parathyroid cancer is a rare endocrine malignancy, representing less than 1 % of all cases of primary hyperparathyroidism. The exact etiology of the disease remains unknown. Known risk factors include neck irradiation, end stage renal failure, genetic factors, particularly the the HPRT2/CDCT73 gene mutation. The clinical picture is often indolent, yet progressive with a trend of local invasion and metastasis formation in advanced disease. The clinical picture includes symptoms of severe and resistant hypercalcemia, requiring intensive therapy often with the need of dialysis. Radical surgery is the mainstay of the parathyroid cancer treatment. Chemotherapy and radiotherapy are generally ineffective. An early and correct diagnosis of parathyroid carcinoma significantly influences both morbidity and mortality.Key words: diagnosis - hyperparathyroidism - parathyroid cancer - treatment.


Assuntos
Carcinoma/epidemiologia , Falência Renal Crônica/epidemiologia , Neoplasias das Paratireoides/epidemiologia , Radioterapia/estatística & dados numéricos , Carcinoma/complicações , Carcinoma/genética , Carcinoma/cirurgia , Humanos , Hipercalcemia/etiologia , Hiperparatireoidismo/etiologia , Hipoxantina Fosforribosiltransferase/genética , Mutação , Pescoço , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/genética , Neoplasias das Paratireoides/cirurgia , Fatores de Risco
9.
Vnitr Lek ; 62(6): 442-8, 2016.
Artigo em Tcheco | MEDLINE | ID: mdl-27485841

RESUMO

BACKGROUND: Diabetes mellitus is the most common cause of end stage kidney disease in the developed countries. Chronic kidney disease-mineral and bone disorder (CKD-MBD) develops with deteriorating of the renal functions. Diabetic patients on hemodialysis are characterized by low bone turnover, higher prevalence of severe and progressive vascular calcification with increased cardiovascular morbidity and mortality. The main factor which causes vascular calcification in patients with diabetic kidney disease (DKD) is poor glycemic control. The recent trial findings describe an inverse correlation between intact parathyroid hormone (iPTH) serum levels and glycemic control in a group of diabetic patients on hemodialysis. AIM: The objective of the proposed project is to access the difference of the laboratory markers MBD in the group of patients with 3rd stage DKD depending on glycemic control. We focused on the relationship between the glycemic compensation of diabetes (HbA1c) and iPTH serum level. PATIENTS AND METHOD: Ninety one patients with 3rd stage DKD were investigated. There were 46 women (50.5 %) and 45 men (49.5 %), average age of patients was 71.2 ± 7.0 years, with creatinine level 128 ± 30 µmol/l and estimated glomerular filtration (eGF, MDRD) 0.82 ± 0.16 ml/s. There were 60 patients with better glycemic control of diabetes (HbA1c < 7 %) vs 29 patients with poorly controlled diabetes (HbA1c > 7 %). MBD markers were compared in both groups. Patients were further stratified into subgroups based on the serum level of iPTH (iPTH < 35 pg/ml vs iPTH > 35 pg/ml) and MBD markers compared. Statistical analysis was performed using and Mann-Whitney test. RESULTS: We have found the statistical significance in the serum phosphate and proteinuria levels in between groups with HbA1c < 7 % vs patients with HbA1c > 7 %. Diabetics with better glycemic control had significant reduction in serum phosphate level (1.14 ± 0.20 vs 1.23 ± 0.18 mmol/l, p = 0.038) and in 24 hrs proteinuria level (0.56 ± 1.35 vs 1.30 ± 1.61 g/day, p = 0.007). In the group of presumed low bone turnover (iPTH < 35 pg/ml) we have found the trend towards increased serum calcium level (2.49 ± 0.12 vs 2.43 ± 0.10 mmol/l, p = 0.063) and increased HbA1c value (7.5 ± 1.8 vs 6.4 ± 1.6 %, p = 0.023). CONCLUSION: Our results suggest the closer relationship between glycemic control of diabetes and mineral-bone disorder in earlier stages of DKD. KEY WORDS: diabetes mellitus type 2 (DM2T) - chronic kidney disease (CKD) - mineral and bone disorder (MBD).


Assuntos
Biomarcadores/análise , Distúrbio Mineral e Ósseo na Doença Renal Crônica/diagnóstico , Nefropatias Diabéticas/diagnóstico , Idoso , Glicemia/metabolismo , Distúrbio Mineral e Ósseo na Doença Renal Crônica/sangue , Diabetes Mellitus Tipo 2/complicações , Nefropatias Diabéticas/sangue , Feminino , Humanos , Falência Renal Crônica/diagnóstico , Masculino
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