RESUMEN
Gaucher's disease if one of the most frequent, among extremely rare, lysosomal storage diseases. It is the autosomal recessive inherited metabolic disorder, which can present in three main clinical forms. Type 1 - the most benign, in a not-neuropathic form, and types 2 and 3, both in neuropathic form, which manifest serious neurological symptoms. AIM: The aim of the study was to draw attention to the late diagnosing of Gaucher's disease in the Polish population and to popularize the knowledge about this ultra-rare disease. CASE REPORTS: Having analyzed the cases of our patients, we have concluded that the diagnosis of Gaucher's disease type 1 is often made with a time delay of up to several years. The lack of deeper knowledge about the disease and its symptoms among the physicians was found a main reason for this time lag. The disease is usually not taken into consideration in difference diagnosis due to its "ultra-rare" character. Furthermore, the course of the disease is usually occult with no spectacular symptoms, whereas the frequently occurring chronic weakness and bone pains are not treated as serious pathology. CONCLUSIONS: Early diagnosis of the Gaucher's disease gives patients the chance of an appropriate, effective substitutive therapy, as well as recovery of organ disturbances.
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Diagnóstico Tardío , Enfermedad de Gaucher/diagnóstico , Adulto , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , PoloniaRESUMEN
Chronic heart failure (CHF) is a condition in which both structure and functional capacity of cardiac muscle are impaired, resulting in ineffective peripheral tissue perfusion. Affecting numerous organs and systems, it is currently considered to be a systemic illness. Among significant, however until now, hardly recognized consequences of CHF there are ventilatory disorders. Their presence may be explained by proximity of heart and lungs inside rib cage or by close functional cooperation between these two organs. Ventilatory disorders clinically manifest as exacerbations of the underlying disease, i.e. intense dyspnea--primarily exertional in nature, over time, present even at rest. On the basis of functional pulmonary tests, ventilatory disorders may be classified into three categories: restrictive, obstructive and most commonly--mixed. The restrictive model is represented in bodypletysmography as reduction in the total lung capacity to values less than 5th percentile of the predicted values for normals, while Tiffeneau index remains intact. Such condition may probably result from the chronic inflammatory process affecting lung tissue, for which the reaction of macrophage cells to both pulmonary stasis, as well as increased volume of interstitial and alveolar fluid remains the underlying cause. The increased formation of connective tissue fibers engenders thickening of alveolar-capillary membrane, occurrence of disturbed oxygen diffusion and emergence of hypoxemic respiratory failure. Ventilatory disorders of obstructive nature are characterised by reduction of Tiffeneau index--the calculated ratio between forced expiratory volume in 1. second and forced vital capacity--to values below 5th percentile of the predicted range. The research results indicate for the presence of bronchiolar narrowing--dominant in small-diameter bronchi and bronchioles, with larger structures being unaffected--clearly depicted in spirometry as reduced levels of forced expiratory flow after exhaling 50% and 75% of forced vital capacity. Due to a considerable epidemiological problem, as well as significance of the clinical symptoms manifesting ventilatory disorders in course of chronic heart failure, there should be put emphasis on cardiac injury prevention in individuals from risk groups and the proper treatment of patients already suffering from chronic heart failure.
Asunto(s)
Insuficiencia Cardíaca/complicaciones , Trastornos Respiratorios/diagnóstico , Trastornos Respiratorios/etiología , Enfermedad Crónica , Disnea/etiología , HumanosRESUMEN
The most common endocrinological cause of secondary hypertension is primary hyperaldosteronism. Despite great progress in laboratory and imaging techniques, its identification is often difficult. We report the case of the 52-year-old man with resistant hypertension and severe hypokalemia. Renovascular hypertension, Cushing syndrome and pheochromocytoma were excluded as potential causes of drug-resistant hypertension in the presented case. Renal potassium excretion was significantly high. The results of plasma aldosterone concentration measured in supine position as well as in standing position were ambiguous. Computed tomography revealed abnormal round solid mass with a maximum diameter of 11 mm in the left adrenal. As there were not diagnostic results of laboratory research and ambiguous character of pathological structure in research computed tomography we have decided to carry adrenal cortex scintigraphy with iodomethyl-norcholesterol 131I. The result of this research was consistent with left adrenal scan of computed tomography and left adrenal adenoma has been confirmed. Normal blood pressure and normokalemia were restored after surgical treatment.
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Adenoma/complicaciones , Adenoma/diagnóstico , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/diagnóstico , Hiperaldosteronismo/diagnóstico , Hipertensión/etiología , Hipopotasemia/etiología , Diagnóstico Diferencial , Humanos , Hiperaldosteronismo/etiología , Masculino , Persona de Mediana Edad , Tomografía Computarizada por Rayos XRESUMEN
BACKGROUND: Cigarette smoking is a major risk factor of atherosclerosis. The aim of this study was to assess the relationship between smoking and arterial hypertension as well as endothelial dysfunction in postmenopausal women without clinically manifested symptoms of atherosclerosis. MATERIAL/METHODS: The study groups consisted of 35 current smokers and 45 nonsmokers. The thickness of intima-media complex (IMT), a marker of atherosclerosis, was measured in carotid arteries. Plasma concentrations of fasting glucose, insulin, lipoproteins, inflammatory markers (tumor necrosis factor-alpha, intercellular adhesion molecule-1), matrix metalloproteinases (metalloproteinase-9, tissue inhibitor of metalloproteinase-1), insulin, and dehydroepiandrosterone sulfate (DHEA-S) were measured. RESULTS: Smokers compared with nonsmokers showed lower fasting glucose levels in blood (87.0±10.9 and 93.2±13.6 mg/dl, p<0.05), higher mean systolic (131.1±15.9 vs. 123.0±10.9 mm Hg, p<0.05) and diastolic (81.7±11.4 vs. 75.2±9.2 mm Hg, p<0.05) blood pressure during daytime, and higher average heart rate during the daytime (78.2±9.3/min vs. 71.5±9.5/min, p<0.01) and at night (67.2±10.6/min vs. 61.7±7.7/min, p<0.05), respectively. The IMT in the right carotid artery was significantly higher in smokers than in nonsmokers (0.96±0.16 mm vs. 0.82±0.21, p<0.05) and was positively correlated with smoking intensity (R=0.36) and habit duration (R=0.35). The comparison of inflammatory markers, metalloproteinases, and DHEA-S concentrations in plasma did not reveal significant differences between the 2 groups. A significant negative correlation between DHEA-S concentration in plasma and IMT in right carotid artery was found in smokers. CONCLUSIONS: Smoking in hypertensive postmenopausal women is associated with lower fasting blood glucose and BMI values, but higher arterial pressure and heart rate, and increases in IMT in right carotid artery.
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Grosor Intima-Media Carotídeo , Deshidroepiandrosterona/deficiencia , Endotelio Vascular/fisiopatología , Hipertensión/fisiopatología , Síndrome Metabólico/fisiopatología , Posmenopausia/fisiología , Fumar/efectos adversos , Antropometría , Biomarcadores/sangre , Presión Sanguínea/fisiología , Deshidroepiandrosterona/sangre , Diástole/fisiología , Femenino , Frecuencia Cardíaca/fisiología , Humanos , Hipertensión/sangre , Hipertensión/complicaciones , Mediadores de Inflamación/sangre , Metaloproteinasas de la Matriz/sangre , Síndrome Metabólico/sangre , Síndrome Metabólico/complicaciones , Persona de Mediana Edad , Posmenopausia/sangre , Sístole/fisiologíaRESUMEN
OBJECTIVE: The objective of the study was to compare polygraphic parameters and selected laboratory parameters in patients with obstructive sleep apnoea (OSA) who develop various types of left ventricular (LV) geometry. Material and Methods. The research covered 122 patients with obstructive sleep apnoea and coexisting effectively treated systemic hypertension (95 men, 27 women, average age: 54 ± 10.63). Overnight polygraphy, echocardiography, carotid artery ultrasonography, and laboratory measurements were performed. The patients were classified into four groups, depending on LV geometry. Group 1 comprised patients with normal LV geometry, group 2 included those with LV concentric remodelling. Group 3 and group 4 were patients with LV hypertrophy, concentric or eccentric, respectively. RESULTS: The most frequent type of LV geometry in the examined population was eccentric hypertrophy (36%). The highest average values of BMI and T-Ch were observed in the group of patients with concentric remodelling (group 2). The most severe respiratory disorders were found in the group of patients developing LV concentric hypertrophy (group 3); however, these differences were not statistically significant in comparison to other groups. Patients with LV eccentric hypertrophy had significantly decreased LV ejection fraction (p = 0.0008). CONCLUSIONS: LV eccentric hypertrophy is the most frequent type of LV geometry in OSA patients. Patients with severe sleep-disordered breathing are more likely to develop concentric hypertrophy, while concentric remodelling occurs more frequently among OSA patients with other coexisting conditions, such as obesity or lipid-related disorders.
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Ventrículos Cardíacos/fisiopatología , Hipertensión/fisiopatología , Hipertrofia Ventricular Izquierda/fisiopatología , Apnea Obstructiva del Sueño/fisiopatología , Anciano , Presión Sanguínea , Arterias Carótidas/fisiopatología , Ecocardiografía , Femenino , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Hipertensión/complicaciones , Hipertensión/diagnóstico por imagen , Hipertrofia Ventricular Izquierda/complicaciones , Masculino , Persona de Mediana Edad , Obesidad/fisiopatología , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico por imagen , Función Ventricular Izquierda/fisiología , Remodelación Ventricular/fisiologíaRESUMEN
BACKGROUND: Inflammation plays a key role in the development of atherosclerosis. Studies in women receiving estrogens show their proinflammatory effects. This study sought to determine relation between sex hormones and 2 inflammation markers: C-reactive protein and fibrinogen. MATERIAL/METHODS: One hundred men of at least age 50 years were enrolled in the study. Plasma levels of total testosterone, estradiol, sex hormone binding globulin, high-sensitivity C-reactive protein, and fibrinogen were measured. Free estradiol and free testosterone were calculated. RESULTS: Estradiol and free estradiol levels were positively correlated with C-reactive protein and fibrinogen. In a subgroup analysis, this association persisted only in patients with stable coronary artery disease. No significant correlations were found between testosterone, free testosterone, sex hormone binding globulin, and markers of inflammation. CONCLUSIONS: This study suggests that estradiol may have proinflammatory effects in older men with coronary artery disease.
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Biomarcadores/sangre , Proteína C-Reactiva/análisis , Estradiol/sangre , Fibrinógeno/análisis , Inflamación/sangre , Anciano , Ensayo de Inmunoadsorción Enzimática , Humanos , Inflamación/diagnóstico , Masculino , Persona de Mediana Edad , Radioinmunoensayo , Globulina de Unión a Hormona Sexual/análisis , Estadísticas no Paramétricas , Testosterona/sangreRESUMEN
Colovesical fistulas (CVFs) are rare complications of very advanced cancers of the abdominal or pelvic cavity and often cause diagnostic troubles. CVFs are found more often in males, whereas females usually suffer from rectovaginal or vesicovaginal fistulas. This article presents a case of a female patient who was admitted to the hospital because of acute diarrhea, presumably of infectious origin, and with only subtle abnormalities in blood tests and urinalysis. Owing to the ineffectiveness of the performed treatment and progressive intensification of symptoms, diagnostics were extended to include a computed tomography scan, sigmoidoscopy and cystography. The imaging results revealed a large heterogeneous conglomerate of solid and fluid structures in the pelvis, which involved reproductive organs, the bladder and sigmoid colon. The excrement leaking from the digestive tract was urine, and CVF was the first manifestation of colon cancer. Shortly after the final diagnosis, the patient deteriorated and eventually died after an urgent colostomy was performed because of a bowel obstruction.
RESUMEN
UNLABELLED: The associations between sex hormones and cardiovascular risk factors in men are controversial. It is well known that testosterone level declines with age and this phenomenon is associated with increased incidence of cardiovascular disease in men. Elevated levels of total cholesterol and LDL cholesterol together with low HDL cholesterol are the important risk factors of coronary heart disease. THE AIM OF STUDY was to investigate the relationships between sex hormones and plasma lipids in aging males. MATERIAL: The study group comprised 107 males over 50 years old. RESULTS: A significant positive correlation was found between testosterone (T) and HDL-cholesterol (r=0.251; p<0.01). Estradiol level was inversely correlated with total cholesterol (r=-0.204; p<0.05). Interestingly, the older age of subjects was associated with increased levels of SHBG (r=0.28; p<0.01) and decreased free testosterone index (T/SHBG) (r=-0.423; p<0.001). CONCLUSION: These data support relationship between sex hormones and plasma lipids and suggest that a low testosterone concentration in aging males may be important in the pathogenesis of atherosclerosis.
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Enfermedades Cardiovasculares/sangre , HDL-Colesterol/sangre , LDL-Colesterol/sangre , Estradiol/sangre , Testosterona/sangre , Adulto , Humanos , Masculino , Persona de Mediana Edad , Factores de RiesgoRESUMEN
UNLABELLED: There is an increased accumulation of fat tissue with subsequent increase of insulin level, insulin resistance and decrease of testosterone level in aging males. AIM OF THE STUDY: Assessment of the relations between obesity, insulin resistance and levels of sex hormones. MATERIAL AND METHODS: Indices of obesity (BMI, WHR, waist circumference), insulin level, insulin resistance (HOMA-IR) and levels of sex hormones (total testosterone, free testosterone, free testosterone index, sex hormone-binding globulin--SHBG, estradiol) were measured in 107 males at the mean age of 60.1 +/- 7 years. RESULTS: Obesity among aging males is associated with insulin resistance and hyperinsulinism. All above factors correlate with decreased serum levels of testosterone and sex hormone binding globulin as well as increased ratio estradiol/testosterone ratio. CONCLUSION: Our data suggest a role of decreased levels of testosterone and SHBG in pathogenesis of visceral obesity and metabolic syndrome in older males.
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Estradiol/sangre , Síndrome Metabólico/sangre , Síndrome Metabólico/epidemiología , Obesidad/sangre , Obesidad/epidemiología , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona/sangre , Adulto , Anciano , Humanos , Insulina/sangre , Masculino , Persona de Mediana EdadRESUMEN
Accumulating evidence indicates the involvement of sex hormones in atherogenesis. Endogenous testosterone is inversely related to the majority of risk factors for atherosclerosis and is known to be a potent immunomodulator. Recently, autoantibodies to oxidized LDL (anti-oxLDL Ab) were shown to predict carotid and coronary atherosclerosis. The aim of this study was to investigate the relationship between these antibodies and testosterone level in ageing males. The study group comprised 65 males over 50 years old (42 with coronary artery disease). Serum anti-oxLDL Ab titer was measured by enzyme-linked immunoassay and total serum testosterone by radioimmunoassay. A significant inverse correlation was found between serum anti-oxLDL Ab titer and testosterone concentration (r=-0.346, P=0.0047). Alteration in serum anti-oxLDL Ab titres showed no correlation to classical cardiovascular risk factors, e.g. body mass index, waist/hip ratio, smoking, total cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol. In multiple regression analysis only testosterone level was independently associated with anti-oxLDL Ab. These data suggest a that fall of testosterone concentration in ageing men can influence either oxidative modification of LDL or the immune response to these lipoproteins which may be important in the pathogenesis of atherosclerosis.
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Envejecimiento/fisiología , Autoanticuerpos/análisis , Enfermedad de la Arteria Coronaria/diagnóstico , Enfermedad de la Arteria Coronaria/inmunología , Lipoproteínas LDL/sangre , Lipoproteínas LDL/inmunología , Testosterona/sangre , Anciano , Biomarcadores/análisis , Estudios de Casos y Controles , Ensayo de Inmunoadsorción Enzimática , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Probabilidad , Valores de Referencia , Análisis de Regresión , Medición de Riesgo , Muestreo , Sensibilidad y Especificidad , Estadísticas no Paramétricas , Testosterona/metabolismoRESUMEN
INTRODUCTION: Early atherosclerotic changes in the endothelium associated with metabolic syndrome are generated with the participation of inflammatory cells, cytokines and enzymes of the extracellular matrix. The study is aimed at a comparison between the activity of inflammatory agents, tumour necrosis factor α (TNF-α) and the enzymes of the connective tissue matrix in the blood of healthy female patients as well as those suffering from the metabolic syndrome. MATERIAL AND METHODS: The examination included 35 women with metabolic syndrome (MS). The control group (C) comprised 35 healthy women. Lipidogram, C-reactive protein level (CRP), fasting glucose level (FGL), matrix metalloproteinase (MMP)-8 and -9 activity, tissue inhibitor of metalloproteinase-1 (TIMP-1) and TNF-α levels in blood were determined. RESULTS: As compared with the control group, the level of inflammatory factors and the activity of extracellular matrix enzymes in the metabolic syndrome were statistically higher (p < 0.05) and concerned the following parameters: TNF-α (pg/ml): MS 6.59 ±3.18, C 4.78 ±2.91; CRP (mg/dl): MS 2.18 ±2.04, C 1,26 ±1.35; TIMP-1 (ng/ml): MS 265.5 ±2.9, C 205.4 ±72.6; MMP-9 (ng/ml): MS 198.2 ±138.6, C 138.6 ±116.1. Statistically significant correlations were also found between TIMP-1 and the following factors: BMI (R = 0.400, p < 0.001), waist/hip ratio (WHR) (R = 0.278, p < 0.05), waistline (R = 0.417, p < 0.001), FGL (R = 0.290, p < 0.05), HDL cholesterol (R = -0.253, p < 0.05) and triglycerides (R = 0.269, p < 0.05).There were positive correlations of MMP-9 with FGL (R = 0.446, p < 0.001) and waistline (R = 0.260, p < 0.05); MMP-8 with FGL (R = 0.308, p < 0.05); and CRP with BMI (R = 0.370, p < 0.01), WHR (R = 0.325, p < 0.01) and waistline (R = 0.368, p < 0.01). CONCLUSIONS: Metabolic syndrome is connected with higher activity of cytokines (TNF-α), inflammatory markers (CRP) and matrix enzymes (MMP-9, MMP-8, TIMP-1).
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Inhibidores Enzimáticos/efectos adversos , Inhibidores Enzimáticos/uso terapéutico , Finasterida/efectos adversos , Finasterida/uso terapéutico , Neoplasias de la Próstata/inducido químicamente , Neoplasias de la Próstata/prevención & control , Colestenona 5 alfa-Reductasa/antagonistas & inhibidores , Humanos , Masculino , Factores de RiesgoRESUMEN
The effects of three months' transdermal dihydrotestosterone treatment were assessed in eleven men with coronary artery disease. Concentration of total testosterone level significantly decreased (p < 0.01) as well as free testosterone (p < 0.05) and estradiol levels (p < 0.01), without changes of sex hormone binding globuline and estradiol/testosterone ratio. DHT regimen did not alter the parameters of lipid profile. No changes of blood glucose, insulin, insulin resistance (HOMA) and fibrinogen were observed in this group. The tendency towards higher levels of hemoglobin, erythrocyte count and hematocrit did not reach statistical significance. Short term DHT administration in aging males was safe for prostate.
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Envejecimiento/efectos de los fármacos , Andrógenos/uso terapéutico , Enfermedad de la Arteria Coronaria/sangre , Dihidrotestosterona/uso terapéutico , Fibrinógeno/metabolismo , Hormonas Esteroides Gonadales/sangre , Resistencia a la Insulina , Lipoproteínas/sangre , Administración Tópica , Enfermedad de la Arteria Coronaria/tratamiento farmacológico , Estradiol/sangre , Fibrinógeno/efectos de los fármacos , Humanos , Lipoproteínas/efectos de los fármacos , Masculino , Persona de Mediana Edad , Globulina de Unión a Hormona Sexual/metabolismo , Testosterona/sangre , Factores de TiempoRESUMEN
Left ventricular hypertrophy (LVH) is an independent risk factor for cardiovascular morbidity and mortality. The aim of the study was to find which factors influence left ventricular mass (LVM) and whether relationships exist between sex hormones: testosterone (T), estradiol (E2), sex hormone binding globulin (SHBG) and insulin resistance (HOMA-IR) and LVM. The study group consisted of 107 males at the age of over 50 years (mean 60.1 +/- 7.0). Positive significant correlations between LVM or left ventricle mass index (LVMI) and hypertension (0.23; p = 0.015 and 0.23; p = 0.019 respectively) as well as between LVM and body weight (0.38; p < 0.001) were observed. LVM and LVMI were higher in hypertensive than in normotensive men (279.9 +/- 82.2 vs. 243.4 +/- 70.3 g, p = 0.015 and 144.6 +/- 41.5 vs. 127.4 +/- 33.1 g/m2, p = 0.019 respectively). Multiple regression analysis showed LVM to be independently associated with hypertension and body weight. For LVMI such correlation was found only with hypertension. No relationships were observed between LVM/LVMI and insulin/insulin resistance.
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Hormonas Esteroides Gonadales/fisiología , Hipertensión/complicaciones , Hipertrofia Ventricular Izquierda/fisiopatología , Resistencia a la Insulina/fisiología , Factores de Edad , Anciano , Peso Corporal/fisiología , Volumen Cardíaco/fisiología , Enfermedad de la Arteria Coronaria/diagnóstico , Enfermedad de la Arteria Coronaria/fisiopatología , Ecocardiografía , Homeostasis/fisiología , Humanos , Hipertensión/fisiopatología , Hipertrofia Ventricular Izquierda/diagnóstico , Masculino , Persona de Mediana Edad , Factores de RiesgoRESUMEN
The effect of transdermal dihydrotestosterone on left ventricle mass and its systolic and diastolic function as well as on the results of treadmill stress test was assessed in eleven males with coronary artery disease. DHT treatment for 3 months resulted in significant decrease in isovolumetric relaxation time (0.150+/-0.37 s vs. 0.135+/-0.03 s; p < 0.05) indicating the improvement of left ventricle diastolic function. Left ventricle mass and systolic function indices remained unchanged. There was improvement in myocardial ischemia, time to 1 mm ST segment depression increased (p < 0.05) and ST/HR slope decreased (p < 0.01). Correlation coefficients between testosterone concentration at the beginning of the study and differences in selected parameters of ECG stress test were as follows: for T and increased total exercise time (r= -0.83, p=0.002), for T and increased maximum workload (r= -0.84, p=0.001), for T and increased time to 1 mm ST segment depression (r= -0.75, p=0.009) and for T and decreased ST/HR slope (r=0.68, p=0.02).