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1.
Eur Rev Med Pharmacol Sci ; 19(18): 3433-7, 2015 Sep.
Article in English | MEDLINE | ID: mdl-26439039

ABSTRACT

OBJECTIVE: Human chitotriosidase (ChT) is an active chitinase expressed by activated phagocytes. Increased ChT activity has been reported in systemic Candida albicans infections and in Gram-negative and Gram-positive bacterial infections, indicating that an increase in ChT activity reflects phagocyte activation. The aim of this study was to determine the changes in serum ChT activity in patients who underwent high dose chemotherapy (HDC) and stem cell transplantation (SCT), who are at an increased risk for fungal and bacterial infections due to depression of the immune system during the neutropenic period. PATIENTS AND METHODS: A total of 55 SCT patients were included in the study. Serum ChT activity was determined before the initiation of HDC and during the neutropenic period after hematopoietic stem cell reinfusion on post-transplant first, fifth and tenth days. RESULTS: Chitotriosidase levels before transplantation were significantly lower than the results at first, fifth and tenth days post-hematopoietic stem cell reinfusion. CONCLUSIONS: Although the number of neutrophils was low, ChT enzyme activity was high in newly produced granules of neutrophils. Chitotriosidase may be supplemented as a drug for preventing and treating infections in the near future.


Subject(s)
Hematopoietic Stem Cell Transplantation/methods , Hexosaminidases/blood , Neoplasms/enzymology , Neoplasms/therapy , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bacterial Infections/blood , Bacterial Infections/enzymology , Combined Modality Therapy , Female , Humans , Lymphoma/blood , Lymphoma/drug therapy , Lymphoma/enzymology , Lymphoma/therapy , Male , Middle Aged , Multiple Myeloma/blood , Multiple Myeloma/drug therapy , Multiple Myeloma/enzymology , Multiple Myeloma/therapy , Neoplasms/blood , Neoplasms/drug therapy
2.
Pak J Med Sci ; 30(3): 578-82, 2014 May.
Article in English | MEDLINE | ID: mdl-24948983

ABSTRACT

OBJECTIVE: The aim of this pilot study was to determine clinical and laboratory factors that predict amputation surgery and to evaluate the predictive value of soluble CD14 (sCD14), interleukin-6 (IL-6), and procalcitonin (PCT) in patients with diabetic foot ulcers (DFUs). METHODS: Twenty-seven (20 males, 7 females) Diabetic Foot Ulcers (DFU) patients admitted to our department were consecutively enrolled. The patients' demographics and wound characteristics were noted. IL-6, PCT, and sCD14 were measured at admission. RESULTS: Six of the 27 patients (22%) eventually underwent lower extremity amputation. Compared to the non-amputation group, a previous history of amputation (p=0.017), the presence of gangrene (p=0.044), the Wagner grade (p=0.011), the IL-6 concentration (p=0.018), the white blood cell count (WBC) (p=0.036), and the erythrocyte sedimentation rate (ESR) (p=0.042) were significantly high in the amputation group. However, the sCD14 and PCT concentration were not significantly different. CONCLUSION: We have shown for the first time that IL-6 may have predictive value for lower extremity amputation in patients with DFU. Further studies are needed to confirm its predictive value in this patient group.

3.
J Matern Fetal Neonatal Med ; 27(1): 30-5, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23617751

ABSTRACT

INTRODUCTION: Oxidative stress and inflammation are the basic molecular mechanisms in bilirubin neurotoxicity. We aimed to investigate the relationship between serum bilirubin and an antioxidant, anti-inflammatory and neuroprotective peptid, adrenomedullin (AM) levels. METHODS: The correlation between serum bilirubin and AM levels was investigated in a total of 87 newborns. Newborns were further divided into two groups according to the serum bilirubin levels. Group I (with significant hyperbilirubinemia) and Group II (without significant hyperbilirubinemia) were compared with respect to demographic, anthropometric and biochemical parameters including serum AM levels. RESULTS: In the correlation analysis, a significant positive correlation was detected between serum indirect bilirubin and AM levels in 87 newborns (p < 0.001, r = 0.945). In demographic, anthropometric and biochemical comparison of the two study groups, serum indirect bilirubin levels were 21.53 ± 3.59 and 9.37 ± 4.87 mg/dl in Groups I and II, respectively (p < 0.001), and serum AM levels were 1.45 ± 0.06 and 1.28 ± 0.07 ng/ml in Groups I and II, respectively (p < 0.001) CONCLUSION: AM probably plays a significant role in adverse effects and neuronal injury steps of significant hyperbilirubinemia. In parallel with the results of this study the role, effects and physiopathological basis of AM in neonatal hyperbilirubinemia should be established especially with further animal studies. Results of this study may be used in establishing reference values for AM as there are very limited number of studies in newborns.


Subject(s)
Adrenomedullin/blood , Bilirubin/blood , Case-Control Studies , Female , Humans , Hyperbilirubinemia/blood , Hyperbilirubinemia/complications , Infant, Newborn , Jaundice, Neonatal/etiology , Jaundice, Neonatal/therapy , Male , Phototherapy
4.
Hum Exp Toxicol ; 32(5): 522-9, 2013 May.
Article in English | MEDLINE | ID: mdl-23536517

ABSTRACT

The aim of this study was to investigate the protective effects of taurine (Tau) on experimental acute pancreatitis (AP) in a rat model by measuring cytokines and oxidant stress markers. Forty rats were randomly divided into four groups: sham, AP, Tau and AP + Tau. AP was induced with sodium taurocholate. No treatment was given to the AP. All rats were killed 5 days later. Pancreatic tissues of rats and blood samples were obtained. Tau treatment significantly decreased serum amylase activity (p < 0.001), total injury score (p < 0.001), malondialdehyde levels (p < 0.001) and myeloperoxidase (MPO) activity (p < 0.001). There was no significant difference between the Tau and AP + Tau groups in serum and pancreatic tumor necrosis factor-α, interleukin (IL)-1ß and IL-6 levels (p = 1.000). Histopathologic scores in the AP + Tau and Tau groups were significantly lower compared with the AP group (both p < 0.001). These results showed that Tau reduces lipid peroxidation, amylase and MPO activities and the concentrations of proinflammatory cytokines secondary to AP and also increases superoxide dismutase and glutathione peroxidase activities in rats with sodium taurocholate-induced AP. It also has a marked ameliorative effect at histopathologic lesions. With these effects, Tau protects the cells from oxidative damage, reduces inflammation and promotes regression of pancreatic damage.


Subject(s)
Pancreatitis/prevention & control , Taurine/therapeutic use , Acute Disease , Animals , Disease Models, Animal , Interleukin-1beta/blood , Interleukin-6/blood , Male , Pancreatitis/blood , Peroxidase/metabolism , Rats , Rats, Sprague-Dawley , Reactive Oxygen Species/metabolism , Superoxide Dismutase/metabolism , Tumor Necrosis Factor-alpha/blood
5.
B-ENT ; 8(4): 257-60, 2012.
Article in English | MEDLINE | ID: mdl-23409553

ABSTRACT

Epistaxis is a very common medical problem in otolaryngology practice and can usually be controlled with conservative interventions. Rarely, uncontrolled and life threatening epistaxis occurs. We present the case of a 29-year-old male who developed intractable intermittent epistaxis due to post-traumatic pseudoaneurysms arising from the cavernous segment of the left internal carotid artery. The patient was successfully treated with endovascular embolization.


Subject(s)
Carotid Artery Injuries/complications , Carotid Artery, Internal , Embolization, Therapeutic/methods , Endovascular Procedures/methods , Epistaxis/etiology , Epistaxis/therapy , Adult , Angiography, Digital Subtraction , Carotid Artery Injuries/diagnosis , Humans , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
6.
Fetal Pediatr Pathol ; 30(6): 387-93, 2011.
Article in English | MEDLINE | ID: mdl-22059458

ABSTRACT

Preeclampsia is a syndrome characterized by hypertension and proteinuria. The aim of this study is to find the relationship between preeclampsia, asymmetric dimethyl arginine (ADMA), and the oxidant/antioxidant system. Twenty-one preeclamptic and 28 normal pregnant women were included in this study. In cord bloods, ADMA and oxidant/antioxidant parameters were measured. Asymmetric dimethyl arginine levels were significantly increased in preeclamptic pregnancies compared to the control group (p = 0.006). The activities of antioxidant enzymes and malondialdehyde levels were increased in the preeclamptic group compared to the control group (p < 0.001, p = 0.022, p < 0.001, p < 0.001, respectively). Development of endothelial dysfunction and oxidative stress may play a role in developing preeclampsia.


Subject(s)
Arginine/analogs & derivatives , Pre-Eclampsia/blood , Pre-Eclampsia/etiology , Adult , Antioxidants/metabolism , Arginine/blood , Case-Control Studies , Citrulline/blood , Female , Fetal Blood , Humans , Lipid Peroxidation , Malondialdehyde/blood , Oxidants/blood , Oxidative Stress , Pregnancy , Young Adult
7.
Interv Neuroradiol ; 17(1): 36-48, 2011 Mar.
Article in English | MEDLINE | ID: mdl-21561557

ABSTRACT

This report evaluated the short and midterm results of the safety and effectiveness of the treatment technique with hybrid and non-hybrid Y-configured, dual stent-assisted coil embolization of wide-neck intracranial aneurysms, and reviewed the literature concerning this technique. Nine patients, eight with unruptured and one with ruptured aneurysms were included in the study. Of aneurysms embolized with a hybrid (with two different stents) and non-hybrid (with two identical stents) technique, three were located in the anterior communicating artery, three at the tip and one at the distal site of basilar artery, and two in the middle cerebral artery. All aneurysms included the orifices of bifurcation vessels. All aneurysms were stented and embolized during the same session. While Neuroform and Enterprise stents were used in the hybrid technique, two Enterprise stents were used in the non-hybrid technique. Dual Y-stent assisted coil embolization was performed successfully in eight of nine patients (88.9%), including five patients (55.6%) with hybrid and three patients (33.3%) with non-hybrid technique. No procedural complication, no mortality and no minor or major neurological complications were seen during the angiographic or clinical follow-up. When an attempt was made at passing the second stent through the first Enterprise stent, the stent protruded inside the aneurysm in one patient (11.1%). Hybrid or non-hybrid dual Y-stent-assisted coil embolization in the treatment of ruptured or unruptured wide-neck and complex intracranial aneurysms is a safe and effective method from the viewpoint of short and midterm results.


Subject(s)
Aneurysm, Ruptured/therapy , Embolization, Therapeutic/instrumentation , Embolization, Therapeutic/methods , Intracranial Aneurysm/therapy , Stents , Aged , Aneurysm, Ruptured/diagnostic imaging , Cerebral Angiography , Embolization, Therapeutic/adverse effects , Female , Follow-Up Studies , Humans , Intracranial Aneurysm/diagnostic imaging , Male , Middle Aged , Stents/adverse effects , Treatment Outcome
8.
Clin Chem Lab Med ; 48(8): 1127-31, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20441471

ABSTRACT

BACKGROUND: Pre-eclampsia is a syndrome characterized by hypertension and proteinuria. The aim of this study was to investigate neopterin concentrations in cord blood and maternal serum in patients with pre-eclampsia and a control group. METHODS: Cord blood and maternal serum neopterin were measured in 21 patients with pre-eclampsia and in 27 control subjects. Neopterin concentrations were measured by high performance liquid chromatography. RESULTS: Cord blood neopterin concentrations were significantly increased in patients with pre-eclampsia compared to controls (54.3+/-16.8 vs. 43.4+/-8.5 nmol/L, p=0.011, respectively). Maternal serum neopterin (257.3+/-36.8 vs. 150.9+/-33.8 nmol/L, p<0.001) was also higher in patients with pre-eclampsia. CONCLUSIONS: Cord blood and maternal serum neopterin concentrations are higher in patients with pre-eclampsia. Maternal serum neopterin concentrations used may be used as a marker for the early diagnosis of pre-eclampsia.


Subject(s)
Fetal Blood/chemistry , Neopterin/blood , Pre-Eclampsia/diagnosis , Adult , Biomarkers/blood , Chromatography, High Pressure Liquid , Early Diagnosis , Female , Humans , Maternal-Fetal Exchange , Pregnancy , Prenatal Diagnosis
9.
Prog Neuropsychopharmacol Biol Psychiatry ; 34(2): 372-5, 2010 Mar 17.
Article in English | MEDLINE | ID: mdl-20074610

ABSTRACT

BACKGROUND: There is an interaction between the immune system and the central nervous system by means of hormones, peptides, and neurotransmitters. The aims of the present study were to determine whether the serum neopterin levels in patients with major depression (MD) differ from a healthy control group and to investigate the relationship between previous MD episodes and serum neopterin levels. METHODS: Thirty patients who were admitted to the GATA Psychiatry Outpatient Clinics and were diagnosed with MD according to DSM-IV, and who agreed to participate in the study, were included in the study. Twenty-six healthy volunteers matched for age, gender, and level of education who agreed to participate in the study were served as controls. Peripheral venous blood samples were obtained from the patients and the control group for complete blood count, routine biochemistry, and the detection of serum neopterin levels. The analyses were performed in the laboratory of the GATA Department of Biochemistry. RESULTS: There was no significant difference between the MD group and the healthy controls with respect to age, level of education, smoking, and gender. Serum neopterin levels of the MD group who had experienced two or more episodes were higher than the first-episode group and the control group. Age of onset and the number of previous episodes had an independent impact on serum neopterin levels in MD patients, while smoking did not show any effect. CONCLUSION: In the present study, the neopterin levels of patients who had experienced two or more episodes were higher than the first-episode depressive group and healthy control group. It was also found that the number of previous depressive episodes and the ages of the MD cases had an independent effect on serum neopterin levels.


Subject(s)
Depressive Disorder, Major/blood , Depressive Disorder, Major/physiopathology , Neopterin/blood , Adult , Confidence Intervals , Female , Humans , Male , Middle Aged , Neuropsychological Tests , Odds Ratio , Severity of Illness Index
10.
Int J Cardiol ; 145(2): 353, 2010 Nov 19.
Article in English | MEDLINE | ID: mdl-19995672

ABSTRACT

It is well known that red cell distribution width (RDW) levels are affected by various clinical manifestations such as iron deficiency, thrombocytopenia, and inflammatory diseases. In the present study, the authors investigated to examine the prognostic significance of various plasma biomarkers in patients with known or suspected coronary artery disease. However, they only measured hemoglobin levels. They did not measure other factors including iron, vitamin B12, folate, and platelet count. In this study, because of all these causes, high RDW levels are unavailable as an independent predictor of mortality in patients with acute coronary syndromes.


Subject(s)
Acute Coronary Syndrome/blood , Erythrocyte Indices/physiology , Erythrocyte Volume/physiology , Erythrocytes/physiology , Acute Coronary Syndrome/diagnosis , Humans , Predictive Value of Tests
11.
Clin Chem Lab Med ; 47(12): 1543-7, 2009.
Article in English | MEDLINE | ID: mdl-19883210

ABSTRACT

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.


Subject(s)
Hemorrhagic Fever, Crimean/blood , Hexosaminidases/blood , Adult , Case-Control Studies , Female , Hemorrhagic Fever, Crimean/enzymology , Humans , Male , Middle Aged
12.
Coron Artery Dis ; 19(8): 543-9, 2008 Dec.
Article in English | MEDLINE | ID: mdl-19005288

ABSTRACT

AIMS: We aimed to investigate the impact of admission estimated glomerular filtration rates (eGFR) on the development of poor myocardial perfusion after primary percutaneous coronary intervention (pPCI) in patients presenting with acute ST-segment-elevation myocardial infarction (STEMI). MATERIALS AND METHODS: Study population consisted of 80 patients with STEMI (64 men, mean age=67.5+/-6.6 years) undergoing pPCI. Myocardial perfusion was evaluated by using thrombolysis in myocardial infarction (TIMI) myocardial perfusion grade (TMPG). Patients were divided into two groups according to TMPG after pPCI. Group 1 and 2 consisted of 40 patients with TMPGs 0-1 and 40 patients with TMPGs 2-3, respectively. GFR was calculated based on the abbreviated Modification of Diet in Renal Disease study equation. RESULTS: Admission serum creatine kinase-MB isoenzyme (CKMB) levels and the percentage of lower eGFR (<60 ml/min/1.73 m2) values of the patients with TMPGs 0-1 were significantly higher than those of the patients with TMPGs 2-3 after primary PCI (P=0.007, P<0.001, respectively). Univariate analysis identified pain-to-balloon time, eGFR lower than 60 ml/min/1.73 m2, peak CKMB, and TIMI flow grade 0/1 as the predictors of poor myocardial perfusion. In multivariate analysis peak CKMB, left ventricular ejection fraction less than 35%, admission TIMI flow grade 0/1, lower eGFR and pain-to-balloon time continued to have statistically significant independent association with poor myocardial perfusion in the model. Adjusted odds ratios were calculated as 12.05 for low eGFR [P=0.005; confidence interval (CI): 2.11-68.70], 8.10 for admission TIMI grade 0/1 (P=0.04; CI: 1.37-47.91), 7.04 for pain-to-balloon time (P<0.001; CI: 2.37-20.90), 6.76 for low left ventricular ejection fraction (P=0.03; CI: 1.12-40.61), and 1.02 for CKMB (P=0.01; CI: 1.00-1.04). CONCLUSION: Decreased GFR on admission in patients with STEMI is independently associated with the risk of poor myocardial perfusion following after primary PCI.


Subject(s)
Angioplasty, Balloon, Coronary/adverse effects , Coronary Circulation , Glomerular Filtration Rate , Myocardial Infarction/therapy , No-Reflow Phenomenon/etiology , Aged , Biomarkers/blood , Creatine Kinase, MB Form/blood , Female , Humans , Logistic Models , Male , Middle Aged , Myocardial Infarction/physiopathology , No-Reflow Phenomenon/physiopathology , Odds Ratio , Patient Admission , Retrospective Studies , Risk Assessment , Risk Factors , Stroke Volume , Time Factors , Treatment Outcome , Ventricular Function, Left
13.
AJNR Am J Neuroradiol ; 28(7): 1403-4, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17698552

ABSTRACT

We present a rare case of a complication of placement of a carotid artery stent represented by partial opening of a carotid Wallstent caused by displacement of its metal ring marker, which thus hindered complete expansion of the stent. An intraluminally locked carotid stent necessitated referral of the patient for urgent carotid endarterectomy. A possible reason of this unusual complication can be a manufacturing defect, which, to our knowledge, was not documented previously in open public data bases or on the Internet.


Subject(s)
Blood Vessel Prosthesis/adverse effects , Carotid Arteries/surgery , Foreign-Body Migration/etiology , Foreign-Body Migration/surgery , Prosthesis Failure , Stents/adverse effects , Aged , Female , Humans , Rare Diseases/etiology
14.
Eur J Clin Nutr ; 61(2): 212-20, 2007 Feb.
Article in English | MEDLINE | ID: mdl-16969381

ABSTRACT

OBJECTIVE: Frequent consumption of nuts is associated with favorable plasma lipid profiles and reduced risk of coronary heart disease (CHD). This study was conducted to investigate the effects of hazelnut-enriched diet on plasma cholesterol and lipoprotein profiles in hypercholesterolemic adult men compared with baseline and control diet, and also to measure the anthropometric parameters, habitual physical activities, nutrient intake and endothelial function. SUBJECTS AND DESIGN: Fifteen hypercholesterolemic men aged 48+/-8 years were recruited voluntarily. A well-controlled, 2-period (P1 and P2) study design with a total of 8-week was implemented. In the P1, subjects consumed a control diet (low-fat, low-cholesterol and high-carbohydrate). During the P2, the control diet was supplemented with MUFA-rich hazelnut (40 g/day), which provided 11.6% of total energy content. Anthropometric parameters and habitual physical activities were recorded. Plasma total and HDL cholesterol, TAG, ApoA-1, Apo B, total homocysteine and glucose concentrations were measured. All parameters and measurements were obtained at baseline and end of each 4-week diet period. RESULTS: Body weights of subjects remained stable throughout the study. Compared with baseline, the hazelnut-enriched diet decreased (P<0.05) the concentrations of VLDL cholesterol, triacylglycerol, apolipoprotein B by 29.5, 31.8, and 9.2%, respectively, while increasing HDL cholesterol concentrations by 12.6%. Total/HDL cholesterol and LDL/HDL cholesterol ratios favorably decreased (P<0.05). Although insignificant there was a decreasing trend for the rest of parameters, particularly in total (5.2%) and LDL cholesterol (3.3%) in subjects consuming a hazelnut-enriched diet compared to that of the baseline. No changes were found in fasting levels of glucose, Apo A-1 and homocysteine between the control and hazelnut-enriched diets. CONCLUSIONS: This study demonstrated that a high-fat and high-MUFA-rich hazelnut diet was superior to a low-fat control diet because of favorable changes in plasma lipid profiles of hypercholesterolemic adult men and, thereby positively affecting the CHD risk profile. SPONSORSHIP: Funding provided by a grant from the Hazelnut Promotion Group, Giresun, Turkey.


Subject(s)
Cholesterol/blood , Corylus , Dietary Fats, Unsaturated/administration & dosage , Hypercholesterolemia/blood , Hypercholesterolemia/diet therapy , Anthropometry , Apolipoproteins B/blood , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Cholesterol, VLDL/blood , Cross-Over Studies , Dietary Fats/administration & dosage , Dietary Fats/metabolism , Dietary Fats, Unsaturated/metabolism , Endothelial Cells/physiology , Exercise/physiology , Homocysteine/blood , Humans , Male , Middle Aged , Treatment Outcome , Triglycerides/blood
15.
Acta Radiol ; 47(4): 397-400, 2006 May.
Article in English | MEDLINE | ID: mdl-16739700

ABSTRACT

PURPOSE: To determine the variation in the location of the dural sac (DS) in a living adult population and to correlate this position with age and sex. MATERIAL AND METHODS: T2-weighted, midline, sagittal, spin-echo magnetic resonance imaging (MRI) studies of 743 patients were assessed to identify the tip of the DS. This location was recorded in relation to the upper, middle, or lower third of the adjacent vertebral body or the adjacent intervertebral disk. RESULTS: Frequency distribution for levels of termination of the DS on MRI demonstrated that the end of the DS was usually located at the upper one-third of S2 (25.2%). The mean level in females was also the upper one-third of S2 (26.5%) and in males the lower one-third of S2 (24.1%). The overall mean DS position was mostly at the upper one-third of S2. No significant differences in DS position were seen between male and female patients or with increasing age. CONCLUSION: It is important to know the possible range for the termination level of the DS when performing caudal anesthesia and craniospinal irradiation in some clinical situations. The distribution of DS location in a large adult population was shown to range from the L5-S1 intervertebral disk to the upper third of S3 vertebrae.


Subject(s)
Dura Mater/anatomy & histology , Magnetic Resonance Imaging/methods , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Female , Humans , Lumbosacral Region , Male , Middle Aged , Reference Values , Retrospective Studies , Sex Factors
16.
J Med Genet ; 42(4): 314-7, 2005 Apr.
Article in English | MEDLINE | ID: mdl-15805157

ABSTRACT

We present a patient with acromesomelic chondrodysplasia and genital anomalies caused by a novel homozygous mutation in BMPR1B, the gene coding for bone morphogenetic protein receptor 1B. The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar deviation of the hands, and fusion of carpal/tarsal bones. In addition, she presented with hypoplasia of the uterus and ovarian dysfunction resulting in hypergonadotrophic hypogonadism. Mutation analysis of BMPR1B revealed a homozygous 8 bp deletion (del359-366). This mutation is expected to result in a loss of function and is thus different from the heterozygous missense mutations in BMPR1B recently shown to cause brachydactyly type A2 through a dominant negative effect. The patient's skeletal phenotype shows an overlap with the clinical spectrum of the acromesomelic chondrodysplasias of the Grebe, Hunter-Thompson, and DuPan types caused by homozygous mutations in the gene coding for growth differentiation factor 5 (GDF5) which is a high-affinity ligand to BMPR1B. However, the phenotype described here differs from GDF5 associated chondrodysplasias because of the additional presence of genital anomalies and the distinct limb phenotype.


Subject(s)
Bone Morphogenetic Protein Receptors, Type I/genetics , Homozygote , Limb Deformities, Congenital/genetics , Mutation , Ovarian Diseases/genetics , Adolescent , Bone Morphogenetic Proteins/genetics , Female , Growth Differentiation Factor 5 , Humans , Models, Genetic , Pedigree , Phenotype , Sequence Analysis
17.
Ann Oncol ; 16(5): 798-804, 2005 May.
Article in English | MEDLINE | ID: mdl-15774486

ABSTRACT

BACKGROUND: The level of serum cardiac troponin-T (cTnT) increases with myocardial damage. We sought to assess whether cTnT level could be a useful marker for the early detection of anthracycline cardiotoxicity. PATIENTS AND METHODS: Forty-one patients who had been scheduled to receive anthracycline-containing combination chemotherapy were included in the study. Serum cTnT levels were measured before (baseline) and after the first cycle of chemotherapy, and again, after the last cycle of chemotherapy. In all patients, the left ventricular ejection fraction (LVEF), fractional shortening (FS), early peak flow/atrial flow velocity (E/A) ratio, and the isovolemic relaxation time (IRT) were measured echocardiographically, both before and after the completion of chemotherapy. RESULTS: LVEF and FS did not change in any patients. In 21 patients (49%), the E/A ratio decreased after therapy as compared to the pre-treatment values. The decrease in E/A ratio was more prominent in patients who were older than the mean age of our study group, which was 44 years. The post-treatment IRT was prolonged compared with the pretreatment IRT (94.0 +/- 2.0 versus 85.6 +/- 10.5 ms, respectively). cTnT levels after completion of therapy were elevated in 14 (34%) patients, and exceeded the upper limit of the normal range (>0.1 ng/ml) in only one patient. cTnT levels measured after completion of therapy were significantly higher, compared with those measured at baseline and after the first cycle of therapy. In the younger age group (< or =44 years old), there was a two-fold decrease in the E/A ratio in those patients whose cTnT levels increased during the therapy, when compared with those whose cTnT levels did not change (21% versus 43%, respectively). CONCLUSION: Increased serum cTnT level can be detected in the early stages of anthracycline therapy and it is associated with diastolic dysfunction of the left ventricle. Therefore, serum cTnT level could be a useful measure for early detection of anthracycline-induced cardiotoxicity.


Subject(s)
Anthracyclines/adverse effects , Antineoplastic Combined Chemotherapy Protocols/adverse effects , Heart/drug effects , Neoplasms/drug therapy , Troponin T/blood , Adolescent , Adult , Age Factors , Aged , Anthracyclines/therapeutic use , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Biomarkers/blood , Cohort Studies , Dose-Response Relationship, Drug , Female , Heart Function Tests , Hematologic Neoplasms/drug therapy , Hematologic Neoplasms/pathology , Humans , Male , Middle Aged , Neoplasms/pathology , Predictive Value of Tests , Prognosis , Prospective Studies , Risk Assessment , Sensitivity and Specificity , Sex Factors , Treatment Outcome
18.
Australas Radiol ; 48(3): 398-400, 2004 Sep.
Article in English | MEDLINE | ID: mdl-15344994

ABSTRACT

Pheochromocytomas of the bladder are rare neoplasms, constituting < 0.06% of all vesical tumours. Common presenting features of this tumour include episodes of sweating, hypertension, haematuria and postmicturition syncope. We describe a case of bladder pheochromocytoma in a 66-year-old man whose only symptom of macroscopic haematuria was initially assessed with ultrasonography. Clinical presentation highlights the need for a high index of suspicion during sonographic evaluation of bladder neoplasms because such tumours might present without symptoms of adrenergic excess.


Subject(s)
Pheochromocytoma/diagnostic imaging , Urinary Bladder Neoplasms/diagnostic imaging , Aged , Hematuria/etiology , Humans , Magnetic Resonance Imaging , Male , Pheochromocytoma/complications , Tomography, X-Ray Computed , Ultrasonography , Urinary Bladder Neoplasms/complications
19.
Eur J Radiol ; 48(3): 282-4, 2003 Dec.
Article in English | MEDLINE | ID: mdl-14652147

ABSTRACT

Rhabdomyosarcoma (RMS) is a common childhood malignancy which can rarely be located in the breast. Here, we report two pediatric cases of breast RMS, one primary, the other secondary involvement. Primary one is alveolar, and the other embryonal subtype. Imaging findings with ultrasonography (US), computed tomography (CT) and magnetic resonance imaging (MRI) and a thorough review of literature are presented.


Subject(s)
Breast Neoplasms/diagnosis , Rhabdomyosarcoma, Alveolar/diagnosis , Rhabdomyosarcoma, Embryonal/diagnosis , Rhabdomyosarcoma, Embryonal/secondary , Adolescent , Axillary Artery/pathology , Breast Neoplasms/secondary , Breast Neoplasms/therapy , Child , Female , Humans , Magnetic Resonance Imaging , Mastectomy, Modified Radical , Rhabdomyosarcoma, Alveolar/surgery , Rhabdomyosarcoma, Embryonal/therapy , Tomography, X-Ray Computed
20.
Abdom Imaging ; 28(5): 675-7, 2003.
Article in English | MEDLINE | ID: mdl-14628874

ABSTRACT

Aneurysm of the portal venous system, a localized fusiform or saccular dilatation, is a rare clinical abnormality. Most aneurysms are located in the extrahepatic segment and rarely in intrahepatic branches. Portal vein aneurysms are usually uncomplicated and asymptomatic and detected incidentally during diagnostic work-up. We describe a case of a bleeding intrahepatic portal vein aneurysm studied with ultrasonography, color Doppler, computed tomography, and percutaneous transhepatic portography in a noncirrhotic patient. Although there are 43 published cases of portal vein aneurysm in the English-language literature, neither rupture and spontaneous thrombosis of an intrahepatic portal vein aneurysm nor its nonsurgical conservative treatment has been reported.


Subject(s)
Aneurysm/diagnosis , Diagnostic Imaging , Portal Vein , Thrombosis/diagnosis , Diagnosis, Differential , Female , Humans , Middle Aged , Rupture, Spontaneous
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