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Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation
Get PDFPURPOSE
Congenital mirror movement disorder (CMMD) is characterized by unintended, nonsuppressible, homologous mirroring activity contralateral to the movement on the intended side of the body. healthy controls, unilateral movements are accompanied with predominantly contralateral cortical activity, whereas in CMMD, in line with the abnormal behavior, bilateral cortical activity is observed for unilateral motor tasks. However, task-related activities in subcortical structures, which are known to play critical roles in motor actions, have not been investigated in CMMD previously.
METHODS
We investigated the functional activation patterns of the motor components in CMMD patients. By using linkage analysis and exome sequencing, common mutations were revealed in seven affected individuals from the same family. Next, using functional magnetic resonance imaging (fMRl) we investigated cortical and subcortical activity during manual motor actions in two right-handed affected brothers and sex, age, education, and socioeconomically matched healthy individuals.
RESULTS
Genetic analyses revealed heterozygous RAD51 c.401C>T mutation which cosegregated with the phenotype in two affected members of the family. Consistent with previous literature, our fMRI results on these two affected individuals showed that mirror movements were closely related to abnormal cortical activity in M1 and SMA during unimanual movements. Furthermore, we have found previously unknown abnormal task-related activity in subcortical structures. Specifically, we have found increased and bilateral activity during unimanual movements in thalamus, striatum, and globus pallidus in CMMD patients.
CONCLUSION
These findings reveal further neural correlates of CMMD, and may guide our understanding of the critical roles of subcortical structures for unimanual movements in healthy individuals
Parvovirus B19 seroprevalence in Turkish blood donors
Get PDFBackground/aim: Parvovirus risk in blood transfusion has become a popular research topic since there are limited data on parvovirus seroprevalence in blood donors in Trukey. The aim of this study was to investigate parvovirus seroprevalence in blood donors in Turkey.
Materials and methods: Blood samples of 988 blood donors admitted to a university blood bank were obtained for parvovirus B19 IgM and IgG detection. The samples were analyzed using the ELISA method.
Results: IgM positivity of 3.92% and IgG positivity of 58.9% was detected in the blood samples. Parvovirus IgM positivity was found to be the highest in the age group of 41-50 years (P = 0.045) and IgG positivity was detected to be the highest in the age group of 31-40 years (P < 0.001). Parvovirus IgG positivity was significantly higher in women (P = 0.041). However, there was no difference regarding parvovirus IgM positivity in terms of sex (P = 0.245).
Conclusion: Although this study does not represent the whole country, it is still the largest investigation carried out on the topic in Turkey and the obtained results are generally similar to those of European countries. Therefore, it is thought that the results obtained from this study may be supportive for the first steps regarding plasma fractionation, which will soon begin in Turkey
Case report and the surgical treatment of two cases with pulmonary atresia in which pulmonary arteries is circulated by coronary arteries
Get PDFPulmonary atresia (PA) and ventricular septal defect (VSD) can occur in a variety of ways, from simple valve atresia to a condition in which circulation to the pulmonary bed occurs through collateral arteries separated from the aorta and there are no real pulmonary arteries, or they are present but hypoplastic. The size of the pulmonary arteries and concomitant complex cardiac lesions are important in making decisions about treatment and correctional alternatives. While complete correction surgeries in the style of a correction of tetralogy of Fallot are performed in simpler cases, many very invasive procedures are also performed and the resulting quality of life is very variable. The size of the pulmonary artery and its branches and the presence of accompanying collateral vessels are determining factors in the management of the disease. In this report, 2 cases of VSD and PA, in which the circulation of the pulmonary arteries was through the coronary arteries, diagnosed as a result of echocardiography performed following murmurs heard during examination, are described. The first patient was 40 days old and the second was 2 days old. In the second case, diagnosis was confirmed by catheter angiography, and in the first case, the final diagnosis was made during surgery. The aim of this report is to emphasize the importance of pulmonary artery size, the presence of pulmonary confluence, the origin of circulation, and concomitant collateral arteries when considering treatment methods
RETRACTED ARTICLE: Impact of Toll-Like Receptors 2/3/4/9, IL-1-α/β and TNF-α Polymorphisms in Cervical Cancer Susceptibility in Tunisia: Genetic polymorphisms implicated in the occurence of Cervical Cancer
Get PDFDevelopment and validation of a modified quick SOFA scale for risk assessment in sepsis syndrome
No full textSepsis is a severe clinical syndrome owing to its high mortality. Quick Sequential Organ Failure Assessment (qSOFA) score has been proposed for the prediction of fatal outcomes in sepsis syndrome in emergency departments. Due to the low predictive performance of the qSOFA score, we propose a modification to the score by adding age. We conducted a multicenter, retrospective cohort study among regional referral centers from various regions of the country. Participants recruited data of patients admitted to emergency departments and obtained a diagnosis of sepsis syndrome. Crude in-hospital mortality was the primary endpoint. A generalized mixed-effects model with random intercepts produced estimates for adverse outcomes. Model-based recursive partitioning demonstrated the effects and thresholds of significant covariates. Scores were internally validated. The H measure compared performances of scores. A total of 580 patients from 22 centers were included for further analysis. Stages of sepsis, age, time to antibiotics, and administration of carbapenem for empirical treatment were entered the final model. Among these, severe sepsis (OR, 4.40; CIs, 2.35-8.21), septic shock (OR, 8.78; CIs, 4.37-17.66), age (OR, 1.03; CIs, 1.02-1.05) and time to antibiotics (OR, 1.05; CIs, 1.01-1.10) were significantly associated with fatal outcomes. A decision tree demonstrated the thresholds for age. We modified the quick Sequential Organ Failure Assessment (mod-qSOFA) score by adding age (> 50 years old = one point) and compared this to the conventional score. H-measures for qSOFA and mod-qSOFA were found to be 0.11 and 0.14, respectively, whereas AUCs of both scores were 0.64. We propose the use of the modified qSOFA score for early risk assessment among sepsis patients for improved triage and management of this fatal syndrome
Lomber spinal anjiyolipom: a case report
No full textLumbar spinal angiolipomas are rarely seen tumors which present with progressive spinal cord and/or root compression symptoms. Definitive diagnosis with magnetic resonance imaging (MRI) is possible because of their unique signal characteristics. However, probable misdiagnosis is likely due to the infrequency of these tumors. This article reports the case of a 53-year old woman with progressively worsening low back and hip pain in last 6 months. MRI demonstrated a sharply demarcated extradural mass which was hyperintense to cerebrospinal fluid and hypointense to epidural fat on T1-weighted images. The signal was suppressed in fatsaturated images and the mass showed diffuse enhancement after contrast administration
WEEE estimation and determination of collection points: A case for the Municipality of Cankaya
No full textElectrical-electronic waste (WEEE) is generated from electric and electronic devices at the end of their lifecycles. When WEEEs are disposed, burned or disassembled for recycling, they are transformed into products containing hazardous substances and harm the environment and human health. Therefore WEEEs should be collected, transported and processed properly during their recycling operations by municipality authority in order to minimize their damage and maximize their economic benefit. In this paper, a study is carried out for the WEEE management of Cankaya Municipality by the cooperation of Environmental Conservation and Control Department of Cankaya. For this purpose first WEEE with a focus on television, refrigerator, washing machine, oven and vacuum cleaner are estimated based on the electronic device usage behavior of residents in Cankaya. Secondly, the WEEE collection points' location problem is solved considering set covering problem
A COMPARATIVE STUDY OF THE CAPABILITY OF ALTERNATIVE MIXED INTEGER PROGRAMMING FORMULATIONS
No full textIn selecting the best mixed integer linear programming (MILP) formulation the important issue is to figure out how to evaluate the performance of each candidate formulation in terms of selected criteria. The main objective of this study is to propose a systematic approach to guide the selection of the best MILP formulation among the alternatives according to the needs of the decision maker. For this reason we consider the problem of "selecting the most appropriate MILP formulation for a certain type of decision maker" as a multi-criteria decision making problem and present an integrated AHP-TOPSIS decision making methodology to select the most appropriate formulation. As an example the proposed decision making methodology is implemented on the selection of the MILP formulations of the Capacitated Vehicle Routing Problem (CVRP). A numerical example is provided for illustrative purposes. As a result, the proposed decision model can be a tool for the decision makers (here they are the scientists, engineers and practitioners) who intend to choose the appropriate mathematical model(s) among the alternatives according to their needs on their studies. The integrated AHP-TOPSIS approach can simply be incorporated into a computer-based decision support system since it has simplicity in both computation and application
Assessment of Scapular Morphometry
Get PDFThe current study was undertaken to assess the incidence of different types of suprascapular notch, acromion dimensions and the lower and upper scapular angles. The suprascapular notch and variations of the acromion are clinically important in suprascapular nerve compression and subacromial impingement. Measurements were taken from 73 Anatolian dry scapulae of unknown age or sex. The suprascapuar notch was classified according to that of Rengachary et al. (1979). Its width and depth, the distance between supraglenoid tubercle and the deepest point of notch, as well as the upper and lower scapular angles were also determine measured. The type of acromion was assessed according to shape (type I (cobra), type II (square), type III (intermediate)) and tilt (type I (flat), type II (curve). Acromion length and the distance between acromion and coracoid process were also measured. The frequency of different types of suprascapular notch were type I (28.8 %), type II (23.3 %), type III (13.7 %), type IV (20.5 %), type V (2.7 %), type VI (5.5 %)and absence (5.5 %). Acromion type were type I (45.5 %), type II (7.5 %) and type III (47.0 %), acromion tilt type I (15.2 %), and type II (84.8 %). An understanding of the association between the anatomical structures of the scapula and morphometric measurements is clinically important
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
Get PDFAndrogenetic complete hydatidiform moles are human pregnancies with no embryos and affect 1 in every 1,400 pregnancies. They have mostly androgenetic monospermic genomes with all the chromosomes originating from a haploid sperm and no maternal chromosomes. Androgenetic complete hydatidiform moles were described in 1977, but how they occur has remained an open question. We identified bi-allelic deleterious mutations in MEI1, TOP6BL/C11orf80, and REC114, with roles in meiotic double-strand breaks formation in women with recurrent androgenetic complete hydatidiform moles. We investigated the occurrence of androgenesis in Mei1-deficient female mice and discovered that 8% of their oocytes lose all their chromosomes by extruding them with the spindles into the first polar body. We demonstrate that Mei1−/− oocytes are capable of fertilization and 5% produce androgenetic zygotes. Thus, we uncover a meiotic abnormality in mammals and a mechanism for the genesis of androgenetic zygotes that is the extrusion of all maternal chromosomes and their spindles into the first polar body. © 2018 American Society of Human Genetic