ABSTRACT
Heart failure is the one of the biggest health problem in the world. Because of limited donors for heart transplant procedures, the ventricular assist device has become a solution for heart failure therapy. With the increase in number of ventricular assist devices, the incidence of complications has also increased. One of the most important life-threatening complications is ventricular assist device thrombosis. Medical therapy and changes in the ventricular assist device are the main therapy methods for ventricular assist device thrombosis. In this study, we showed our clinical experience with treatment of ventricular assist device thrombosis.
Subject(s)
Anticoagulants/therapeutic use , Heart Failure/therapy , Heart-Assist Devices/adverse effects , Platelet Aggregation Inhibitors/therapeutic use , Thrombolytic Therapy , Thrombosis/drug therapy , Ventricular Function, Left , Anticoagulants/adverse effects , Blood Coagulation Tests , Drug Monitoring/methods , Heart Failure/diagnosis , Heart Failure/physiopathology , Humans , Platelet Aggregation Inhibitors/adverse effects , Risk Factors , Thrombolytic Therapy/adverse effects , Thrombosis/diagnosis , Thrombosis/etiology , Treatment OutcomeSubject(s)
Ear, Inner/physiopathology , Genetic Testing , Hearing Loss, Sensorineural/genetics , KCNQ1 Potassium Channel/genetics , Adolescent , Female , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/physiopathology , High-Throughput Nucleotide Sequencing , Humans , Male , Mutation , TurkeySubject(s)
Atrophy/genetics , Homeodomain Proteins/genetics , Macular Degeneration/genetics , Optic Nerve Diseases/genetics , Trans-Activators/genetics , Adolescent , Atrophy/pathology , Cell Differentiation/genetics , Child , Child, Preschool , Female , Homozygote , Humans , Macular Degeneration/pathology , Male , Mutation , Optic Nerve Diseases/pathology , Retinal Ganglion Cells/pathologyABSTRACT
Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.
Subject(s)
Hearing Loss/genetics , Intracellular Signaling Peptides and Proteins/genetics , Mutation , Consanguinity , Female , Genes, Recessive , Genotype , Homozygote , Humans , Male , Polymorphism, Single Nucleotide , TurkeySubject(s)
Catheters, Indwelling/microbiology , Enterobacteriaceae Infections/microbiology , Kidney Failure, Chronic/therapy , Peritoneal Dialysis/adverse effects , Peritonitis/microbiology , Providencia/isolation & purification , Aged , Anti-Bacterial Agents/therapeutic use , Device Removal , Diagnosis, Differential , Enterobacteriaceae Infections/diagnosis , Enterobacteriaceae Infections/therapy , Female , Follow-Up Studies , Humans , Peritonitis/diagnosis , Peritonitis/therapyABSTRACT
PURPOSE: The aim of this study was to describe visualisation rate and appearance of all pericardial sinuses and recesses and to evaluate whether there is a significant difference between visualisation of these sinuses and recesses on 2-, 4-, 16- and 64-slice multidetector computed tomography (MDCT). MATERIALS AND METHODS: We retrospectively analysed 588 MDCT scans of the chest obtained with a protocol for pulmonary embolism. RESULTS: The visualisation rate of any pericardial recess was 85.2%. The rates on 2-, 4-, 16- and 64-slice MDCT were 74.7%, 90.6%, 90.3% and 88.7%, respectively. There was a statistically significant difference in visualisation rates of pericardial recesses between 2-slice MDCT and other MDCT systems (p<0.01). Age, and 4-, 16- and 64-slice MDCT versus 2-slice MDCT and the presence of pleural effusion appeared as significant predictors of the presence of any recess. CONCLUSIONS: Visualisation rates of pericardial recesses are higher with 4-, 16- and 64-slice MDCT than with 2-slice MDCT. Therefore, radiologists need to be familiar with the different appearances of pericardial recesses on MDCT to avoid misdiagnosis.
Subject(s)
Pericardium/diagnostic imaging , Tomography, X-Ray Computed , Humans , Middle Aged , Radiography, ThoracicABSTRACT
Using Affymetrix 10K arrays, we searched for regions of homozygosity in 51 Turkish families including at least three members with either congenital or prelingual autosomal recessive non-syndromic sensorineural hearing loss (ARNSSNHL), and identified four families whose deafness mapped to the DFNB6 locus on 3p21 containing the TMIE gene. Mutation analysis revealed the p.R84W mutation in all four families. Screening of this mutation in 254 families with ARNSSNHL, without GJB2 mutations, revealed four additional affected families. A novel mutation was found in a non-complementary marriage between a deaf couple who were homozygous for p.R84W and p.W57X, respectively with two affected children who were compound heterozygotes. Six of the TMIE families originated from southeastern Anatolia, making p.R84W a common cause of hearing loss in that region with a relative frequency of 10.3% (95% CI is 2.5-18.1%). The overall prevalence of the p.R84W mutation in ARNSSNHL in Turkey is 2.4% (95% CI is 0.7-4.0%). Genotyping of single-nucleotide polymorphisms flanking the TMIE gene revealed a conserved haplotype, suggesting a single origin for p.R84W from a common ancestor 1250 years ago (95% CI is 650-2500 years). We conclude that p.R84W could be a common mutation in other Middle Eastern populations and should be included in mutation screening offered to individuals with ARNSSNHL.
Subject(s)
Hearing Loss, Sensorineural/genetics , Membrane Proteins/genetics , Point Mutation , Amino Acid Substitution , Base Sequence , Connexin 26 , Connexins , DNA/analysis , DNA/genetics , DNA Mutational Analysis , Gene Frequency , Genetic Testing , Genome, Human , Haplotypes , Hearing Loss, Sensorineural/epidemiology , Humans , Molecular Sequence Data , Polymorphism, Single Nucleotide , Turkey/epidemiologyABSTRACT
Colchicine is widely used, primarily for the treatment of gouty arthritis and familial Mediterranean fever. Colchicine intoxication is a rare but potentially life-threatening event. Herein, we reported a 26-year-old woman who presented to the emergency department after ingesting 27.5 mg of colchicine in a suicide attempt. She exhibited signs typical of colchicine-poisoning and developed infectious complications but with subsequent complete recovery. This paper discusses the role of colchicine poisoning in increasing susceptibility to infections. This aspect is usually under-appreciated in the clinical picture of colchicine overdose.
Subject(s)
Colchicine/poisoning , Gout Suppressants/poisoning , Infections/etiology , Adult , Drug Overdose , Emergency Treatment , Female , Humans , Suicide, AttemptedABSTRACT
Homozygous mutations in the fibroblast growth factor 3 (FGF3) gene have recently been discovered in an autosomal recessive form of syndromic deafness characterized by complete labyrinthine aplasia (Michel aplasia), microtia, and microdontia (OMIM 610706 - LAMM). In order to better characterize the phenotypic spectrum associated with FGF3 mutations, we sequenced the FGF3 gene in 10 unrelated families in which probands had congenital deafness associated with various inner ear anomalies, including Michel aplasia, with or without tooth or external ear anomalies. FGF3 sequence changes were not found in eight unrelated probands with isolated inner ear anomalies or with a cochlear malformation along with auricle and tooth anomalies. We identified two new homozygous FGF3 mutations, p.Leu6Pro (c.17T>C) and p. Ile85MetfsX15 (c.254delT), in four subjects from two unrelated families with LAMM. The p.Leu6Pro mutation occurred within the signal site of FGF3 and is predicted to impair its secretion. The c.254delT mutation results in truncation of FGF3. Both mutations completely co-segregated with the phenotype, and heterozygotes did not have any of the phenotypic findings of LAMM. Some affected children had large skin tags on the upper side of the auricles, which is a distinctive clinical component of the syndrome. Enlarged collateral emissary veins associated with stenosis of the jugular foramen were noted on computerized tomographies of most affected subjects with FGF3 mutations. However, similar venous anomalies were also detected in persons with non-syndromic Michel aplasia, suggesting that a direct causative role of impaired FGF3 signaling is unlikely.
Subject(s)
Deafness/congenital , Ear, Inner/abnormalities , Fibroblast Growth Factor 3/genetics , Mutation/physiology , Adolescent , Adult , Blood Vessels/abnormalities , Child , DNA Mutational Analysis , Female , Homozygote , Humans , Infant , Male , Nuclear Family , Tooth AbnormalitiesSubject(s)
Peritoneal Dialysis, Continuous Ambulatory/adverse effects , Peritonitis/diagnosis , Peritonitis/microbiology , Streptococcal Infections/diagnosis , Streptococcal Infections/microbiology , Anti-Bacterial Agents/therapeutic use , Cefazolin/therapeutic use , Female , Gentamicins/therapeutic use , Humans , Infusions, Parenteral , Middle Aged , Peritonitis/drug therapy , Streptococcal Infections/drug therapyABSTRACT
OBJECTIVE: We studied the proportion of normal appendices, identified on non-contrast MDCT scans of the abdomen and pelvis in children with possible renal stones. MATERIALS AND METHODS: A total of 105 patients were included in the study, comprising 40 girls (38%) and 65 (62%) boys, with a mean age of 7.3 years. Non-enhanced abdominal computed tomographies were evaluated retrospectively, and the visualization, location, contents, diameter of the appendix, and the amount of abdominal fat were recorded. RESULTS: The appendix was clearly distinguished in 72 patients (68.5%). The difference in appendix visualization rates between patients with low and medium amounts of abdominal fat was statistically significant (p < 0.001). Visualization increased with age. The greatest external diameter was between 2.8 and 10 mm, with a mean of 5 +/- 1.34 mm. CONCLUSION: MDCT without contrast will be more useful when used in patients of 6 years old and over, for visualization of the appendix. A better visualization of retrocaecal appendix by MDCT provides a greater advantage over US. Prospective comparative studies will determine the role of this method in the diagnosis of acute appendicitis in pediatric patients.
Subject(s)
Appendicitis/diagnostic imaging , Tomography, X-Ray Computed/methods , Child , Child, Preschool , Female , Humans , Infant , MaleABSTRACT
Computational fluid dynamics (CFD) models have been developed to predict the airflow in a transfer isolator using a commercial CFD code. In order to assess the ability of the CFD approach in predicting the flow inside an isolator, hot wire anemometry measurements and a novel experimental flow visualization technique consisting of helium-filled glycerin bubbles were used. The results obtained have been shown to agree well with the experiments and show that CFD can be used to model barrier systems and isolators with practical fidelity. This indicates that CFD can and should be used to support the design, testing, and operation of barrier systems and isolators.
Subject(s)
Asepsis/instrumentation , Environment, Controlled , Models, Chemical , Rheology , Technology, Pharmaceutical/instrumentation , Computer Simulation , Equipment Design , Filtration/instrumentation , Glycerol/chemistry , Helium/chemistry , Motion , Reproducibility of ResultsABSTRACT
BACKGROUND: Peritonitis is a major complication in continuous ambulatory peritoneal dialysis (CAPD) patients, and the mechanisms involved in the pathology are important if the success rate of treatment strategies is to increase. MATERIAL AND METHODS: A total of 50 CAPD patients (25 with 25 episodes of peritonitis and 25 with no clinical or laboratory signs of infection) were included in the study. Malondialdehyde (MDA) and nitric oxide (NO) metabolites in serum and dialysate effluents were determined. RESULTS: The dialysate/serum (D/S) ratio of the NO metabolites and serum NO metabolite concentrations were significantly higher in the peritonitis group. Serum and dialysate MDA concentrations were also significantly higher in the peritonitis group. The D/S ratio of MDA was significantly higher in the control group. CONCLUSIONS: Local peritoneal NO production and oxidative stress seem to increase in CAPD patients during the peritonitis attack.
Subject(s)
Nitric Oxide Synthase Type II/analysis , Nitric Oxide/analysis , Oxidative Stress , Peritoneal Dialysis, Continuous Ambulatory/adverse effects , Peritonitis/diagnosis , Peritonitis/etiology , Adult , Aged , Biomarkers/analysis , Biomarkers/blood , Dialysis Solutions/analysis , Dialysis Solutions/chemistry , Female , Humans , Male , Malondialdehyde/analysis , Malondialdehyde/blood , Middle Aged , Nitric Oxide/blood , Nitric Oxide Synthase Type II/blood , Peritonitis/bloodABSTRACT
Breast involvement of brucella can be frequently detected in animals, however, it is extremely rare in humans. Clinical findings and complications may cause difficulties in diagnosis. We report the case of a 52-year old woman with bilateral brucella mastitis, which is difficult to differentiate from inflammatory breast carcinoma.
Subject(s)
Brucellosis/diagnostic imaging , Mastitis/diagnostic imaging , Diagnosis, Differential , Doxycycline/therapeutic use , Drug Therapy, Combination , Female , Humans , Mammography , Middle Aged , Rifampin/therapeutic useABSTRACT
BACKGROUND: We aimed to show the impact of leukodepletion on renal function in patients undergoing on-pump coronary revascularization. PATIENTS AND METHODS: Fifty patients awaiting elective on-pump coronary revascularization with normal preoperative cardiac functions and with plasma creatinine levels ranging between 1.5 and 2.0 mg/dL were prospectively randomized into two groups: on-pump CABG with (group A: n = 25) and without leukodepletion (group B, n = 25). Renal glomerular and tubular injury were assessed by urinary alpha glutathione s-transferase (GST), plasma creatinine, and blood urea nitrogen (BUN) levels. RESULTS: The patients consisted of 14 females and 36 males with a mean age of 57.6 +/- 5.3 years. In the leukodepletion group, the mean levels of creatinine, BUN and urinary GST were found to be decreased on the first, third and fifth postoperative days compared with the control group. There was no mortality. Three patients in the control group needed postoperative dialysis. CONCLUSION: Patients with renal dysfunction undergoing on-pump CABG surgery seem to benefit from leukodepletion as a measure to prevent tubular damage and renal impairment compared with a control group.
Subject(s)
Acute Kidney Injury/prevention & control , Coronary Artery Bypass , Coronary Disease/surgery , Leukocyte Reduction Procedures , Acute Kidney Injury/epidemiology , Acute Kidney Injury/etiology , Acute Kidney Injury/metabolism , Acute Kidney Injury/physiopathology , Aged , Analysis of Variance , Biomarkers/blood , Biomarkers/urine , Blood Urea Nitrogen , Coronary Artery Bypass/methods , Creatinine/blood , Female , Glutathione Transferase/urine , Humans , Incidence , Isoenzymes/urine , Male , Middle Aged , Postoperative Period , Potassium/blood , Prospective Studies , Renal Dialysis , Research Design , Treatment Outcome , Turkey , Water-Electrolyte BalanceABSTRACT
BACKGROUND: We evaluated the role of pre-emptive stellate ganglion block (SGB) in preventing radial artery spasm and increasing radial artery graft patency in patients undergoing off-pump coronary artery bypass surgery. METHODS: In this prospective randomized study, 100 patients were divided into two equal groups (n= 50). In group A, SGB was achieved using 10 ml of ropivacaine and, in group B, SGB was not performed. Radial artery blood flow was measured pre- and intra-operatively. Post-operative clinical determinants (S-T segment elevation, use of inotropic agents, incidence of atrial fibrillation) were recorded. Early coronary angiography was performed. RESULTS: According to blood flowmeter measurements, the radial artery blood flow was significantly increased in patients with SGB. The incidence of atrial fibrillation, the need for inotropic agents and S-T segment elevation were all decreased in the SGB group. Angiographic intervention revealed that the incidence of graft spasm was also lower in the SGB group. CONCLUSION: Pre-emptive SGB is an effective method for increasing radial artery blood flow and preventing radial artery spasm. Complications related to radial artery spasm may be decreased and patients may have a more comfortable post-operative period with this method.
Subject(s)
Coronary Artery Bypass/methods , Nerve Block/methods , Radial Artery/drug effects , Stellate Ganglion/drug effects , Vascular Patency/drug effects , Amides/administration & dosage , Analysis of Variance , Anesthetics, Local/administration & dosage , Coronary Disease/surgery , Coronary Vasospasm/prevention & control , Female , Humans , Male , Middle Aged , Postoperative Complications/prevention & control , Prospective Studies , Radial Artery/diagnostic imaging , Radial Artery/transplantation , Radiography , Regional Blood Flow/drug effects , RopivacaineABSTRACT
PURPOSE: Ureteral injury is a rare condition. It is difficult to identify the best diagnostic methods and treatment. We report our experience with penetrating ureteral injuries secondary to gunshot wounds. The methods of diagnosis and treatment options of these cases are described and discussed. MATERIALS AND METHODS: A retrospective review of ureteral injuries due to penetrating trauma between January 1990 and December 2005, in the Urology and General Surgery departments of our hospital. Ureteral injures were graded according to the AAST-OIS. We evaluated mechanism of injury, initial urinalysis, radiologic and operative procedure, associated injuries, and postoperative complications. RESULTS: A total of twenty-one (sixteen male, five female) cases of gunshot ureteral injuries were evaluated retrospectively. The median patient age was 27.85 years (16-48 years). All patients had signs and symptoms of an acute abdomen and only nine patients were evaluated radiologically. Haematuria was absent in 71.4% of patients (15 of 21). All patients had associated injuries and were evaluated from grade I to V. Grade I had none, grade II had 1 (4.76%), grade III had 3 (14.29%), grade IV had 14 (66.6%), grade V had 3 (14.29%). Ureteral stent or nephrostomy tubes were used in all primarily repaired patients. Two patients developed urinary leakage, which resolved spontaneously. CONCLUSIONS: Ureteral injury should always be borne in mind and, when suspected, the surgeon should dissect and visualize the ureter during exploration. Adequate debridment, and ureteral stenting or nephrostomy drainage are good techniques for successful treatment.
Subject(s)
Ureter/injuries , Wounds, Gunshot/surgery , Adolescent , Adult , Drainage , Female , Humans , Male , Middle Aged , Multiple Trauma , Radiography , Retrospective Studies , Stents , Ureter/diagnostic imaging , Ureter/surgeryABSTRACT
INTRODUCTION: Theoretical models of the freeze-drying process are potentially useful to guide the design of a freeze-drying process as well as to obtain information not readily accessible by direct experimentation, such as moisture distribution and glass transition temperature, Tg, within a vial during processing. Previous models were either restricted to the steady state and/or to one-dimensional problems. While such models are useful, the restrictions seriously limit applications of the theory. An earlier work from these laboratories presented a nonsteady state, two-dimensional model (which becomes a three-dimensional model with an axis of symmetry) of sublimation and desorption that is quite versatile and allows the user to investigate a wide variety of heat and mass transfer problems in both primary and secondary drying. The earlier treatment focused on the mathematical details of the finite element formulation of the problem and on validation of the calculations. The objective of the current study is to provide the physical rational for the choice of boundary conditions, to validate the model by comparison of calculated results with experimental data, and to discuss several representative pharmaceutical applications. To validate the model and evaluate its utility in studying distribution of moisture and glass transition temperature in a representative product, calculations for a sucrose-based formulation were performed, and selected results were compared with experimental data. THEORETICAL MODEL: The model is based on a set of coupled differential equations resulting from constraints imposed by conservation of energy and mass, where numerical results are obtained using finite element analysis. Use of the model proceeds via a "modular software package" supported by Technalysis Inc. (Passage/ Freeze Drying). This package allows the user to define the problem by inputing shelf temperature, chamber pressure, container properties, product properties, and numerical analysis parameters required for the finite element analysis. Most input data are either available in the literature or may be easily estimated. Product resistance to water vapor flow, mass transfer coefficients describing secondary drying, and container heat transfer coefficients must normally be measured. Each element (i.e., each small subsystem of the product) may be assigned different values of product resistance to accurately describe the nonlinear resistance behavior often shown by real products. During primary drying, the chamber pressure and shelf temperature may be varied in steps. During secondary drying, the change in gas composition from pure water to mostly inert gas is calculated by the model from the instantaneous water vapor flux and the input pumping capacity of the freeze dryer. RESULTS: Comparison of the theoretical results with the experiment data for a 3% sucrose formulation is generally satisfactory. Primary drying times agree within two hours, and the product temperature vs. time curves in primary drying agree within about +/-1 degrees C. The residual moisture vs. time curve is predicted by the theory within the likely experimental error, and the lack of large variation in moisture within the vial (i.e., top vs. side vs. bottom) is also correctly predicted by theory. The theoretical calculations also provide the time variation of "Tg-T" during both primary and secondary drying, where T is product temperature and Tg is the glass transition temperature of the product phase. The calculations demonstrate that with a secondary drying protocol using a rapid ramp of shelf temperature, the product temperature does rise above Tg during early secondary drying, perhaps being a factor in the phenomenon known as "cake shrinkage." CONCLUSION: The theoretical results of in-process product temperature, primary drying time, and moisture content mapping and history are consistent with the experimental results, suggesting the theoretical model should be useful in process development and "trouble-shooting" applications.