RESUMEN
Introduction: Sarcoidosis is a multisystem granulomatous disease with an unpredictable clinical course. Chitotriosidase is a chitinase mainly expressed by activated macrophages. Increased chitotriosidase activity has been reported in serum and bronchoalveolar lavage (BAL) of sarcoidosis patients compared to healthy controls. This study aims to evaluate the role of serum and BAL chitotriosidase activity on diagnosis, disease characteristics, and prognosis of sarcoidosis. Materials and Methods: Patients referred with suspected sarcoidosis or other interstitial lung disease were prospectively included in the study. All patients underwent bronchoscopy with BAL. Serum and BAL chitotriosidase activity, BAL differential cell counts, and lymphocyte phenotypes were determined. Sarcoidosis patients were followed up regularly. Result: Forty-two sarcoidosis and 28 non-sarcoidosis patients were included in the study. Serum chitotriosidase activity was higher in sarcoidosis group 247.5 (2.78-461) vs 108 (2.78-272) nmol/h/mL (p< 0.001). BAL chitotriosidase activity tended to be higher in sarcoidosis group 11 (2-308) vs 6.95 (2.27-44) nmol/h/mg but was not found to be statistically significant (p= 0.11). Serum and BAL chitotriosidase activities were correlated with each other (p= 0.023, r= 0.355). No significant difference was found between the diagnostic performance of BAL CD4/CD8 ratio and serum chitotriosidase activity (p= 0.079). Serum chitotriosidase and ACE activities were correlated with each other (p= 0.004, r= 0.457). No significant difference was found between serum or BAL chitotriosidase activity and stage or extrapulmonary involvement. Serum chitotriosidase activity was higher in patients who needed systemic therapy at diagnosis (p= 0.046). However, no significant difference was found between serum or BAL chitotriosidase activities and disease progression (p= 0.395 and p= 0.723, respectively). Conclusions: Serum chitotriosidase activity can be helpful in the differential diagnosis of sarcoidosis with a similar diagnostic performance with BAL CD4/CD8 ratio. Although serum chitotriosidase activity at diagnosis does not predict progressive disease, it is associated with the need for systemic therapy at diagnosis. Serial chitotriosidase measurements may be useful in monitoring disease progression during follow-up.
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Sarcoidosis Pulmonar , Sarcoidosis , Humanos , Líquido del Lavado Bronquioalveolar , Sarcoidosis/diagnóstico , Pronóstico , Progresión de la Enfermedad , Sarcoidosis Pulmonar/diagnóstico , Lavado BroncoalveolarRESUMEN
Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. A correct and early diagnosis is required to develop a management plan that is appropriate to the patient's needs. Recently only one case of X-linked CEP had been reported, describing the trans-acting GATA1-R216W mutation. Here, we have characterized two novel X-linked CEP patients, both with misleading hematological phenotypes that include dyserythropoietic anemia, thrombocytopenia, and hereditary persistence of fetal hemoglobin. We compare the previously reported case to ours and propose a diagnostic paradigm for this variant of CEP. Finally, a correlation between phenotype variability and the presence of modifier mutations in loci related to disease-causing gene is described.
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Sustitución de Aminoácidos , Factor de Transcripción GATA1/genética , Estudios de Asociación Genética , Mutación , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/genética , Biopsia , Médula Ósea/patología , Niño , Preescolar , Análisis Mutacional de ADN , Índices de Eritrocitos , Genes Ligados a X , Humanos , Masculino , Linaje , Fenotipo , Porfirinas/sangre , Porfirinas/orinaRESUMEN
BACKGROUND: Diagnosis of vitamin B12 deficiency is generally based on the measurement of serum vitamin B12 levels. However, in selected cases functional indices of vitamin B12, such as methylmalonic acid (MMA) and homocysteine (HCY), are needed. Here we compare the performance of four automated total vitamin B12 assays and also investigate how these assays relate to functional indices of vitamin B12 status. METHODS: Total vitamin B12, MMA and HCY were measured in 69 serum samples from routine vitamin B12 assay requests. Serum vitamin B12 analysis was performed using four different immunoassay autoanalyzers: DxI 800 Unicel (Beckman Coulter, USA), ADVIA Centaur XP (Siemens Diagnostics, Tarrytown, NY, USA), Roche Cobas E601 (Roche Diagnostics, Germany), Architect i2000sr (Abbott Laboratories, Abbott Park, IL, USA). Serum MMA levels were determined by liquid chromatography-mass spectrometry (LC-MS) and serum homocysteine levels were determined by high pressure liquid chromatography (HPLC) methods. RESULTS: Four immunoassay methods were comparable and correlated with each other. Correlation coefficients (r) ranged from 0.898 to 0.987, p<0.001. Highest correlation was observed between Roche Cobas - Architect i2000sr and poorest correlation was observed between DxI 800 Unicel - ADVIA Centaur comparison. DxI 800 Unicel assay demonstrated high mean bias [-122 pg/mL (-616-125 pg/mL)] and a concordance correlation coefficient (CCC) of 0.9161, lower than the others. MMA and HCY were correlated with the vitamin B12 results. The correlation coefficients with their 95% CI indicated that there was no statistically significant difference between the four methods according to their relationship with MMA and HCY. CONCLUSIONS: Total B12 assays correlate very well with each other. However, results of DxI 800 Unicel were lower compared to the other three autoanalyzers. All total vitamin B12 methods show similar relationships with HCY and MMA. Standardization of serum vitamin B12 assays is still not completed and further standardization studies are needed. Laboratory professionals and clinicians should be aware of this disagreement between assay methods and they should use these tests as ancillary tests.
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Automatización , Inmunoensayo , Vitamina B 12/sangre , Homocisteína/sangre , Humanos , Ácido Metilmalónico/sangre , Análisis de RegresiónRESUMEN
BACKGROUND: Blood gas analyzers (BGAs) are important in assessing and monitoring critically ill patients. However, the random use of BGAs to measure blood gases, electrolytes and metabolites increases the variability in test results. Therefore, this study aimed to investigate the correlation of blood gas, electrolyte and metabolite results measured with two BGAs and a core laboratory analyzer. METHODS: A total of 40 arterial blood gas samples were analyzed with two BGAs [(Nova Stat Profile Critical Care Xpress (Nova Biomedical, Waltham, MA, USA) and Siemens Rapidlab 1265 (Siemens Healthcare Diagnostics Inc., Tarrytown, NY, USA)) and a core laboratory analyzer [Olympus AU 2700 autoanalyzer (Beckman-Coulter, Inc., Fullerton, CA, USA)]. The results of pH, pCO2, pO2, SO2, sodium (Naâº), potassium (Kâº), calcium (Ca⺲), chloride (Clâ»), glucose, and lactate were compared by Passing-Bablok regression analysis and Bland-Altman plots. RESULTS: The present study showed that there was negligible variability of blood gases (pCO2, pO2, SO2), K⺠and lactate values between the blood gas and core laboratory analyzers. However, the differences in pH were modest, while Naâº, Clâ», Ca²âº and glucose showed poor correlation according to the concordance correlation coefficient. CONCLUSIONS: BGAs and core laboratory autoanalyzer demonstrated variable performances and not all tests met minimum performance goals. It is important that clinicians and laboratories are aware of the limitations of their assays.
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Análisis de los Gases de la Sangre/instrumentación , Electrólitos/sangre , Análisis Químico de la Sangre/instrumentación , Análisis Químico de la Sangre/métodos , Análisis de los Gases de la Sangre/métodos , Glucemia/análisis , Calcio/sangre , Dióxido de Carbono/sangre , Cloruros/sangre , Humanos , Concentración de Iones de Hidrógeno , Lactatos/sangre , Oxígeno/sangre , Potasio/sangre , Sodio/sangreRESUMEN
BACKGROUND: A nationwide multicenter study was organized to establish reference intervals (RIs) in the Turkish population for 25 commonly tested biochemical analytes and to explore sources of variation in reference values, including regionality. METHODS: Blood samples were collected nationwide in 28 laboratories from the seven regions (≥400 samples/region, 3066 in all). The sera were collectively analyzed in Uludag University in Bursa using Abbott reagents and analyzer. Reference materials were used for standardization of test results. After secondary exclusion using the latent abnormal values exclusion method, RIs were derived by a parametric method employing the modified Box-Cox formula and compared with the RIs by the non-parametric method. Three-level nested ANOVA was used to evaluate variations among sexes, ages and regions. Associations between test results and age, body mass index (BMI) and region were determined by multiple regression analysis (MRA). RESULTS: By ANOVA, differences of reference values among seven regions were significant in none of the 25 analytes. Significant sex-related and age-related differences were observed for 10 and seven analytes, respectively. MRA revealed BMI-related changes in results for uric acid, glucose, triglycerides, high-density lipoprotein (HDL)-cholesterol, alanine aminotransferase, and γ-glutamyltransferase. Their RIs were thus derived by applying stricter criteria excluding individuals with BMI >28 kg/m2. Ranges of RIs by non-parametric method were wider than those by parametric method especially for those analytes affected by BMI. CONCLUSIONS: With the lack of regional differences and the well-standardized status of test results, the RIs derived from this nationwide study can be used for the entire Turkish population.
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Proteínas Sanguíneas/análisis , Pruebas de Química Clínica , Compuestos Inorgánicos/sangre , Lípidos/sangre , Compuestos Orgánicos/sangre , Adulto , Factores de Edad , Anciano , Análisis de Varianza , Proteínas Sanguíneas/normas , Índice de Masa Corporal , Pruebas de Química Clínica/normas , Femenino , Humanos , Compuestos Inorgánicos/normas , Lípidos/normas , Masculino , Persona de Mediana Edad , Análisis Multivariante , Compuestos Orgánicos/normas , Valores de Referencia , TurquíaRESUMEN
OBJECTIVE: Nonalcoholic fatty liver disease (NAFLD), a hepatic manifestation of metabolic syndrome (MetS) is closely associated with an increased risk of cardiovascular disease. Fetuin-A is associated with MetS and NAFLD. We investigated the relationship of circulating fetuin-A level with markers of endothelial dysfunction and presence of carotid atherosclerosis in subjects with NAFLD. METHODS: The consecutive 115 patients with NAFLD and age-matched 74 healthy subjects were enrolled. Plasma levels of fetuin-A and markers of endothelial dysfunction [asymmetric dimethyl arginine (ADMA) and adiponectin] were measured by ELISA method. Insulin sensitivity was determined by homeostasis model assessment of insulin resistance (HOMA-IR) index. Carotid artery intima-media thickness (cIMT) was assessed by high-resolution ultrasonography. RESULTS: Fetuin-A and ADMA were higher and, adiponectin was lower in NAFLD group than the control group (P = 0·004, P < 0·001 and P < 0·001, respectively). In addition, NAFLD group had greater cIMT measurements than the controls (P < 0·001). However, no difference was found for fetuin-A, ADMA, adiponectin and cIMT between two groups when the findings were adjusted according to the glucose, lipids and HOMA-IR index. In correlation analysis, fetuin-A was found to be positively correlated with triglyceride (r = 0·23, P = 0·001), HOMA-IR (r = 0·29, P < 0·001), ADMA (r = 0·24, P = 0·001), cIMT (r = 0·3, P = 0·003) and, negatively correlated with HDL-C (r = -0·17, P = 0·02) and adiponectin (r = -0·19, P = 0·01) levels. Multiple linear regression analysis showed that fetuin-A was independently associated with ADMA and cIMT levels. CONCLUSION: This study demonstrated for the first time that circulating fetuin-A in NAFLD is independently associated with endothelial dysfunction and subclinical atherosclerosis.
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Aterosclerosis/sangre , Hígado Graso/sangre , alfa-2-Glicoproteína-HS/metabolismo , Adiponectina/sangre , Adulto , Arginina/análogos & derivados , Arginina/sangre , Aterosclerosis/metabolismo , Enfermedades de las Arterias Carótidas/sangre , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Grosor Intima-Media Carotídeo , Hígado Graso/metabolismo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Enfermedad del Hígado Graso no Alcohólico , Adulto JovenRESUMEN
Congenital erythropoietic porphyria is a rare autosomal recessive disorder of porphyrin metabolism in which the genetic defect is the deficiency of uroporphyrinogen III cosynthase (UIIIC). Deficiency of this enzyme results in an accumulation of high amounts of uroporphyrin I in all tissues, leading to hemolytic anemia, splenomegaly, erythrodontia, bone fragility, exquisite photosensitivity, and mutilating skin lesions. We discuss a female infantile case who was admitted for jaundice; bullous lesions appeared on her trunk during phototherapy in the neonatal period. The skin biopsy findings were consistent with epidermolysis bullosa. Due to persistent hepatosplenomegaly and cholestasis, metabolic tests and liver biopsy were performed. During the follow-up, hemolytic anemia and red urine were detected. The levels of porphyrin metabolites were determined at high concentrations in plasma, stool and urine analysis, which were suggestive of congenital erythropoietic porphyria.
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Epidermólisis Ampollosa/complicaciones , Porfiria Eritropoyética/complicaciones , Femenino , Humanos , Recién Nacido , Ictericia Neonatal/complicaciones , Ictericia Neonatal/terapia , Fototerapia , Porfiria Eritropoyética/diagnóstico , Porfiria Eritropoyética/metabolismo , Porfirinas/metabolismoRESUMEN
OBJECTIVES: In this study, we aimed to investigate the relationship between chronic hemolysis and increased body iron burden with development of premature atherosclerosis by carotid intima-media thickness (IMT), ferritin, serum lipid profile, homocysteine, nitrate/nitrite, and chitotriosidase enzyme activity in children with ß-thalassemia major. MATERIALS AND METHODS: A total of 31 children with a diagnosis of ß-thalassemia major between the ages of 4 to 16 years constituted the study group. Control group was consisted of 36 age-matched healthy children. Complete blood count, serum glucose, lipid profile, ferritin, homocysteine, calcium, chitotriosidase, and nitrate/nitrite levels were measured and electrocardiographic and echocardiographic investigation and carotid IMT measurement were performed. RESULTS: In study group serum total cholesterol, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol levels were found to be significantly reduced, and very-low-density lipoprotein cholesterol levels were found to be significantly elevated. Plasma nitrate/nitrite levels were significantly reduced; chitotroisidase enzyme activity was significantly increased and carotid IMT was significantly increased in study group. Nitrate/nitrite was found to be the only variable that was statistically significantly related to carotid IMT. CONCLUSIONS: Subclinical atherosclerosis in children with ß-thalassemia major begins early in life, and these children are at risk for development of premature atherosclerosis.
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Aterosclerosis/etiología , Sobrecarga de Hierro/etiología , Talasemia beta/complicaciones , Adolescente , Edad de Inicio , Aterosclerosis/epidemiología , Aterosclerosis/patología , Biomarcadores , Glucemia/análisis , Grosor Intima-Media Carotídeo , Terapia por Quelación , Niño , Preescolar , Electrocardiografía , Femenino , Ferritinas/sangre , Hemólisis , Hexosaminidasas/sangre , Homocisteína/sangre , Humanos , Sobrecarga de Hierro/tratamiento farmacológico , Lípidos/sangre , Masculino , Nitratos/sangre , Nitritos/sangre , Reacción a la TransfusiónRESUMEN
OBJECTIVE: To study the levels of chitotriosidase activity in the peritoneal fluid and the plasma of patients with severe endometriosis and control subjects. MATERIALS AND METHODS: Twenty-five women with laparoscopically and histopathologically confirmed endometriosis (study group) and 27 control patients who had undergone laparoscopic surgery were included. Peritoneal fluid and peripheral blood were obtained from all the patients before the surgery. Chitotriosidase activities were measured. RESULTS: Analysis of chitotriosidase activity in the peritoneal fluid of patients with endometriosis showed that there was no significant difference between endometriosis and control group, respectively (32.04 ± 64.20 vs. 15.25 ± 31.17 nmol/mL/h; p > 0.05). Analysis of chitotriosidase activity in plasma of patients with endometriosis showed significantly increased levels of chitotriosidase levels compared with the control group (74.81 ± 60.54 vs. 14.10 ± 26.17; p < 0.001), respectively. CONCLUSION: We found that the activity of chitotriosidase in plasma was statistically higher in severe endometriosis patients than women without endometriosis.
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Líquido Ascítico/enzimología , Endometriosis/enzimología , Hexosaminidasas/análisis , Hexosaminidasas/sangre , Adulto , Endometriosis/patología , Endometriosis/cirugía , Femenino , Humanos , LaparoscopíaRESUMEN
OBJECTIVE: The aim of this study was to evaluate plasma gamma-glutamyltransferase (GGT) in gestational diabetes mellitus (GDM) in pregnant women at oral glucose tolerance test (OGTT) and the diagnosis of GDM and to explore whether this activity is associated with metabolic parameters. METHOD: This prospective control study included 37 women with GDM and 42 women with normal glucose tolerance in pregnancy (control group). In the study group (GDM), blood was taken for analyzing 100 g OGTT from women who have abnormal 50 g glucose challenge test (GCT). RESULTS: Compared with the controls, the GDM group had significantly higher mean values for serum fasting glucose, insulin, homeostasis model assessment-insulin resistance (HOMA-IR), triglyceride and GGT. Within the GDM group, GGT levels were only negatively correlated with high-density lipoprotein (r = -0.41, p = 0.01). GGT was determined to be an independent metabolic parameter for GDM. While performing analyses receiver operational curve analysis, GGT cutoff set was set at 16 IU/L, the sensitivity was calculated as 86%, and specificity was as 37%. CONCLUSION: The increase at GGT level is an independent risk factor for GDM and identified as high-risk women for diagnosis of GDM.
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Diabetes Gestacional/diagnóstico , Diabetes Gestacional/enzimología , gamma-Glutamiltransferasa/sangre , Adulto , Índice de Masa Corporal , Femenino , Humanos , Lípidos/sangre , Modelos Logísticos , Embarazo , Curva ROC , Sensibilidad y EspecificidadRESUMEN
Chitotriosidase (ChT) is an enzyme secreted by activated macrophages and involved in defense against, and in degradation of chitin-containing pathogens, such as fungi, nematodes, and insects. In addition, it plays an important role in the development of atherosclerosis related with systemic low-grade inflammation. To this effect of activity of ChT, we aimed to investigate serum ChT activity in obese subjects and to determine to relation with insulin resistance and high-sensitive C-reactive protein (hsCRP). A total of 73 obese subjects (10.9 +/- 2.6 years of age, 44 male patients) and 41 age and gender-matched healthy lean subjects (11.6 +/- 2.9 years of age, 18 male patients) were included in this study, between 2007 and 2008. The criterion for diagnosing obesity was defined as the body mass index (BMI) being over 97th percentile of the same gender and age. Fasting serum glucose, insulin, hsCRP and ChT levels were measured. We compared the differences in variables between obese and lean subjects with Student's t-test compared after ascertaining that the data were normally distributed. All data were expressed as mean +/- standard deviation. There was statistically significant increase in serum ChT activity of obese subjects, while there was statistically significant difference in serum hsCRP levels when compared to healthy lean subjects (30.0 +/- 17.9 and 23.0 +/- 17.8, p=0.045; 2.3 +/- 3.1 and 0.7 +/- 1.2, p=0.001). Obese subjects had significantly higher BMI-SDS, TG and HOMA-IR and lower HDL-C levels when compared with the healthy lean subjects (p<0.05). Correlation analysis showed no significant correlation between serum ChT activity and hsCRP, HOMA-IR and BMI-SDS (p>0.05). Although the data need to be validated by further investigation, the observations made in this study seem to indicate that serum ChT activity may not be a useful marker for monitoring systemic low-grade inflammation and insulin resistance in obese subjects.
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Hexosaminidasas/sangre , Inflamación/diagnóstico , Obesidad/sangre , Adolescente , Biomarcadores/sangre , Índice de Masa Corporal , Proteína C-Reactiva/análisis , Niño , HDL-Colesterol/sangre , Femenino , Humanos , Inflamación/sangre , Resistencia a la Insulina , MasculinoRESUMEN
OBJECTIVE: Chitotriosidase (ChT) is an activated macrophage marker. Tumor necrosis factor alpha (TNF-α) and interleukin 1 beta (IL-1ß) are mainly produced macrophages. The aim of the present study was to evaluate the relationship between serum ChT activity, levels of TNF-α and IL-1ß in patients with mild preeclampsia and normal pregnancy. METHODS: An overall 64 cases, 32 healthy pregnant control women (control group) and 32 women with mild preeclamptic patients (study group), were enrolled in this study. At the beginning of the study, all study participants were matched for age and gestational age. Serum ChT activity was measured by fluorometer; TNF-α and IL-1ß levels were measured by enzyme-linked immunosorbent assay. RESULTS: The mean age, gestational week, parity and gravida were similar in the two groups (p > 0.05). Serum ChT activity was significantly higher in the preeclampsia group compared to the control group (p < 0.05). Levels of TNF-α and IL-1ß in patients with mild preeclampsia were similar compared to the control group (p > 0.05). In the PE group, serum ChT activity was not correlated with TNF-α and IL-1ß. CONCLUSION: Mild preeclampsia is found associated with higher ChT activity. This result suggests that activated macrophages play a role in the pathogenesis of preeclampsia. This suggestion needs to be confirmed in future studies with larger populations.
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Hexosaminidasas/sangre , Interleucina-1beta/sangre , Preeclampsia/sangre , Factor de Necrosis Tumoral alfa/sangre , Adulto , Femenino , Humanos , Activación de Macrófagos , Embarazo , Índice de Severidad de la Enfermedad , Adulto JovenRESUMEN
BACKGROUND AND AIMS: Non-alcoholic fatty liver disease (NAFLD) is strongly associated with obesity and diabetes mellitus. IL-18 is associated with obesity and metabolic syndrome. Our aim was to investigate the relationship of IL-18 with adiponectin and liver histology in subjects with NAFLD who had no additional disorder such as morbid obesity, diabetes mellitus and hypertension. METHODS: Plasma levels of IL-18 and adiponectin were measured by ELISA in 96 male subjects with NAFLD [n = 65 for non-alcoholic steatohepatitis (NASH) and n = 31 for simple steatosis (SS)]. RESULTS: IL-18 levels were not different between the two groups (p = 0.89). There was no significant association of IL-18 with adiponectin, insulin resistance and histopathological findings. Adiponectin was lower in the NASH group compared to the SS group (p = 0.02) and it was found to be negatively correlated with hepatic steatosis and fibrosis (r = -0.442, p < 0.001 and r = -0.292, p = 0.02, respectively). CONCLUSIONS: This study indicates that circulating IL-18 levels are not altered in male subjects with NAFLD. These results suggest that in the absence of metabolic risk factors, IL-18 per se may not be involved in the pathogenesis of NASH and SS.
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Interleucina-18/sangre , Adiponectina/sangre , Adulto , Análisis Químico de la Sangre , Ensayo de Inmunoadsorción Enzimática , Hígado Graso/sangre , Hígado Graso/patología , Humanos , Insulina/sangre , Resistencia a la Insulina/fisiología , Hígado/patología , Masculino , Enfermedad del Hígado Graso no AlcohólicoRESUMEN
BACKGROUND: Crimean-Congo hemorrhagic fever (CCHF) is a public health problem in many countries. Chitotriosidase (ChT) is an enzyme secreted by activated macrophages that catalyzes the hydrolysis of chitin and chitin-like substrates. The goal of this study was to assess the relationship between serum ChT activity and mortality. METHODS: ChT activities on the first day of hospitalization were analyzed in serum from 46 patients with CCHF and 36 healthy controls. Serum ChT activities and other clinical and laboratory parameters for patients with non-fatal and fatal CCHF were compared. RESULTS: The median ChT activity was increased in all patients with CCHF [189.9 (134.8-246.6) nmol/mL/h]. The median ChT activity in the non-fatal CCHF group [220.2 (180.6-290.1) nmol/mL/h] was higher compared with the fatal CCHF group [29.2 (16.5-45.7) nmol/mL/h] (p<0.001). In univariate analysis, platelet count, lactate dehydrogenase (LDH), and activated partial thromboplastin time were associated with mortality. CONCLUSIONS: This is the first study investigating the association of serum ChT enzyme activity with mortality from CCHF. This study suggested that relatively low ChT enzyme activities may be a prognostic marker in patients with CCHF.
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Fiebre Hemorrágica de Crimea/sangre , Hexosaminidasas/sangre , Adulto , Estudios de Casos y Controles , Femenino , Fiebre Hemorrágica de Crimea/enzimología , Humanos , Masculino , Persona de Mediana EdadRESUMEN
BACKGROUND AND AIM: The association of hyperbilirubinemia in Gilbert's syndrome (GS) with a decrease in prevalence of coronary artery disease is a well-known phenomenon. In this study, the state of low-density lipoprotein (LDL) oxidation which has been postulated to be a significant determinant at the etiopathogenesis of atherosclerotic disorders was investigated among individuals with GS. METHODS: For this purpose, serum cholesterol, LDL cholesterol, high-density lipoprotein cholesterol, triglycerides, uric acid, apolipoprotein A and B, bilirubins, thiobarbituric acid-reactive substances, and the sensitivity of LDL oxidation levels, as well as serum alanine aminotransferase, aspartate aminotranserfase, gamma glutamyl transferase, and alkaline phosphatase activities, were determined in 17 patients with Gilbert's syndrome and 15 healthy adults. RESULTS: There was no significant difference between the groups except the indirect bilirubin parameter (P < 0.001). In comparison with the healthy individuals, LDL oxidation levels between 75 and 120 min were significantly lower (P < 0.005) along with prolonged lag-phase in GS patients, indicating a delay in oxidation susceptibility. CONCLUSION: It is suggested that the chronic hyperbilirubinemia leading to a lag-phase prolongation in LDL oxidation and a decrease in LDL oxidation may be reason for the low percentage of coronary artery disease.
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Enfermedad de Gilbert/sangre , Lipoproteínas LDL/sangre , Adulto , Bilirrubina/sangre , Biomarcadores/sangre , Estudios de Casos y Controles , Humanos , Peroxidación de Lípido , Oxidación-Reducción , Síndrome , Factores de Tiempo , Adulto JovenRESUMEN
Chitotriosidase (CHIT) belongs to the family of glycosylhydrolases and is highly homologous to chitinases from lower organisms. The enzyme CHIT is of interest for clinical reasons, because it is selectively expressed in chronically activated tissue macrophages. In most ethnic groups, approximately 6% of all individuals are homozygous for CHIT deficiency. Pathological tissue macrophages in several disease conditions massively express CHIT. A shared feature of such cells in the different conditions is the accumulation of lipid material in the lysosomal apparatus. Serum CHIT activity is significantly increased in individuals suffering from atherosclerosis disease and is related to the severity of the atherosclerotic lesion, suggesting a possible role as atherosclerotic extent marker. Our objective is to determine the levels of serum CHIT activity in healthy elderly subjects. Healthy 90 (between 65-94 years old) elderly people and 69 (between 20-44 years old) young people were chosen. Serum CHIT enzymatic activity was determined with the flurometric enzyme activity assay using artificial 4-MU substrate. We found CHIT activity 270 +/- 21 (nmol/mL/h) (values are mean +/- SD) in elderly people and 136 +/- 17 in young people. There are statistical differences between elderly and young subjects.
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Envejecimiento , Aterosclerosis/genética , Hexosaminidasas/sangre , Macrófagos/metabolismo , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Enfermedad de Gaucher/sangre , Enfermedad de Gaucher/genética , Homocigoto , Humanos , Lípidos/química , Lisosomas/metabolismoRESUMEN
It is suggested that salivary alpha-amylase (sAA) may be a marker of sympathoadrenal medullary system activity. Thus, it can be a possible relationship sAA and anxiety disorders. The aim of this study is to investigate sAA in children and adolescents with anxiety disorders and healthy controls. Thirty drug-free youths, aged 8-16 years, who were diagnosed as any anxiety disorders and 36 healthy controls with similar socio-demographic characteristics were included in this study. The sAA was found to be significantly increased in anxiety group compared to control group. However, there was no correlation between sAA and any anxiety scores of the scales. Present study suggested that anxiety disorders in youths may be associated with increased autonomic activity.
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Trastornos de Ansiedad/enzimología , Saliva/enzimología , alfa-Amilasas Salivales/análisis , Adolescente , Sistema Nervioso Autónomo/enzimología , Biomarcadores/análisis , Estudios de Casos y Controles , Niño , Femenino , Humanos , MasculinoRESUMEN
BACKGROUND: Plasma chitotriosidase activity, which is a marker of macrophage activation, has been reported to increase in inflammatory conditions and atherosclerosis. Chronic periodontitis has likely an important role in the development of coronary artery disease. In this study, we aimed to analyze the effect of chronic periodontitis on salivary and plasma chitotriosidase activities in patients with or without coronary atherosclerosis. METHODS: Fifty subjects were divided into four groups as controls (n=13), periodontitis (n=11), coronary artery disease (n=13), and periodontitis + coronary artery disease (n=13). Plasma and saliva chitotriosidase activities were measured by a fluorimetric method in all groups before the nonsurgical treatment of periodontitis and 5 weeks posttreatment in periodontitis groups. RESULTS: Salivary chitotriosidase activity was decreased after nonsurgical periodontal treatment in patients having periodontitis with or without coronary atherosclerosis. However, plasma activities remained unchanged. CONCLUSION: Although this study has some limitations like small sample size and short study duration, it can suggest that salivary chitotriosidase can have the potential to be used as a very useful and practical marker to evaluate the success of the periodontal treatment and/or host response. KEY FINDING: Salivary chitotriosidase can be used as a marker for the evaluation of the success of the periodontal treatment and/or host response.
RESUMEN
BACKGROUND: Persons with beta-thalassemia minor usually are symptomless. However, we previously reported renal tubular dysfunction in a patient with beta-thalassemia minor. The aim of this study is to investigate renal function in patients with beta-thalassemia minor. METHODS: Forty-one subjects with beta-thalassemia minor and 20 sex- and age-matched healthy subjects were enrolled in the study. For analysis, patients were divided into 2 groups: group A, all patients with anemia (n = 19), and group B, patients without anemia (n = 22). Blood and 24-hour urine samples were obtained for hematologic and biochemical analysis. RESULTS: Anemic patients had increased urinary zinc excretion (U(zinc)) and fractional excretion of sodium (FE(Na)) and uric acid (FE(UA)) compared with both controls and patients without anemia. Hemoglobin levels correlated significantly in a negative manner with U(zinc), FE(Na), and FE(UA) in patients with beta-thalassemia minor. However, serum lactate dehydrogenase levels correlated significantly in a positive manner with the same parameters. In addition, 6 of 41 patients (14.6%) with beta-thalassemia minor showed significant signs of renal tubulopathy, such as hypercalciuria, decreased tubular reabsorption of phosphorus with hypophosphatemia, hypomagnesemia with renal magnesium wasting, hypouricemia with renal uric acid wasting, and tubular proteinuria. CONCLUSION: Proximal renal tubular dysfunction is not rare in patients with beta-thalassemia minor.