In silico EST-SSRs Analysis in UniGene of Quercus robur L.

Pedunculate oak (Quercus robur L.) is one of the most important tree componentsof Europe’s forest ecosystems, possessing both ecological and economical value. Development of genomic resources, such as genetic markers, is needed to support geneconservation and tree improvement activities. Experimental methods to develop SSR markers are laborious, time consuming and expensive, while in silico approaches havebecome a practicable and inexpensive alternative in genetic studies. The aim of this studywas to characterize simple sequence repeat (EST-SSR) markers and functional annotationof SSR containing sequences in Q. robur unigene sequences. 7170 unigene sequences(5147.315 kb) of Q. robur were downloaded from National Center for BiotechnologyInformation (NCBI). A total of 475 (6.62 %) unigene sequences containing 525 SSRs (microsatellites) were identified by using MISA software. The average frequency ofmicrosatellites was found, on average, one in every 9.8 kb of sequence. The analysisrevealed that tri-nucleotide repeats (42.6%) were most abundant followed by dinucleotide(36.9%), hexa-nucleotide (11.8%), penta-nucleotide (4.9%) and tetra-nucleotiderepeats (3.8%), respectively. Flanking sequences of the 525 SSRs generated 500 primers(95.2%) with forward and reverse strands by using Primer3 software. Gene based SSRmarkers can be used for studies of genetic diversity, population genetics, geneticmapping, gene tagging and more. Large numbers of unigenes containing SSRs (77.4%),annotations were available 46.75% of which were predicted, 23.91% were hypothetical,8.83% were putative and 20.51% belonged to other protein types. Only 22.5% sequencecould not assign to any specific protein class

Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes

Excessive daytime sleepiness (EDS) is a common complaint encountered in clinical practice with serious consequences both for individual and society since it can increase the ratio of motor vehicle accidents, work- related incidents, and deaths. Moreover, it also manifests less serious individual consequences. This study aimed to investigate the potential role of PER3-VNTR, 5-HTT-LPR, and 5-HTT-VNTR in terms of constituting liability to EDS. Two hundred eighteen participants (93 complaining about daytime sleepiness and 125 individuals with no serious complaint) were recruited in the study. General daytime of sleepiness was quantified with Epworth sleepiness scale (ESS). DNA extractions were performed from collected blood samples with standart salting-out procedure and genotyped. ESS scores displayed difference between individuals suffering from sleep disturbances and other individuals with values of 12.75±4.55 and 6.34±4.26, respectively. PER3- VNTR and 5-HTT-LPR genotypes did not display association with mean ESS scores. However, 5-HTT-VNTR genotypes showed significant association with mean ESS scores; individuals with 10/10 genotypes had the highest ESS score reflecting this genotype as a liability factor for EDS. We strongly recommend further studies based on circadian/serotonin pathway genes in different populations to reach to a consensus and highlight sleep genetic marker genes which then can be the future targets of pharmacological treatment studies for sleep problems

Ollier disease anaplastic mixed oligoastrocytoma a rare association with brain tumors

WOS: 000242312600008Ollier disease, or multiple enchondromatosis, is characterized by multiple, asymmetrically distributed intraosseous cartilaginous masses in the metaphyses and diaphyses of bones. It is rarely associated with neoplasm. We report a 28-year-old woman with a history of Ollier disease, who developed recurrent cerebral anaplastic mixed oligoastrocytoma

Malformations of cerebral cortical development clinical and imaging features

WOS: 000244793500004Malformations of cortical development (MCDs) comprise a variable spectrum of clinical, neuroradiologic, and histopathologic findings. MCDs are increasingly recognized as significant causes of epilepsy, developmental delays, and congenital neurologic deficits. The aim of this study was to determine the types, relative frequencies, and clinical and imaging features of MCDs. Data were collected in 2 hospitals and a medical imaging center during a 9-year period. Twenty-six patients (17 men and 9 women; age range, 5 mo to 29 y; mean age, 10.8 y) with an MCD were evaluated. The results of magnetic resonance imaging studies were retrospectively reviewed for type, extension, and classification of the malformations and for associated findings. Clinical findings were obtained by a review of the patients' medical records. Of the patients studied, epilepsy was present in 65%, mental and/or motor retardation was identified in 34.6%, and skin lesions were noted in 15%. The following types of MCD were identified: malformations of the heterotopic gray matter in 35% of the subjects, focal cortical dysplasia (23%), subependymal and cortical tubers (19%), pachygyria (15%), polymicrogyria (15%), schizencephaly (15%), and type 1 lissencephaly (8%). Approximately, 27% of the subjects had the following other types of cerebral malformation: callosal agenesis (8%), ventriculomegaly (8%), or agenesis of the septum pellucidum (4%). Our study indicated that the most common forms of MCD are heterotopia and focal cortical dysplasia. Patients with an MCD tended to have a higher prevalence of epilepsy, developmental delays, and neurologic deficits. Most patients with heterotopia had other malformations of cortical dysplasia. Some patients with an MCD also exhibited other malformations of the brain

Hemifacial spasm and hypoacusia due to vascular loop compression - Case report and review

WOS: 000248998100013Vascular loop compression is the term used to classify a group of conditions thought to be caused by the compression of cranial nerve by vessel. The vascular abnormality is usually an atherosclerotic aberrant or ectatic intracranial artery, most commonly the anterior and posterior cerebellar artery or the vertebral artery. Hemifacial spasm is a well-recognized clinical feature of vascular compression of the facial nerve. Unilateral auditory symptoms due to eighth nerve involvement with vascular compression have also been reported. Involvement of both seventh and eighth nerves together is a rare condition and imaging features have not been established well. Here, we report a 50-year-old man with hemifacial spasm and unilateral hypoacusia associated with compression of left facial and auditory nerve complex by basilar vascular loop

Cukurova University School of Medicine Organization Chart-Optimization and Simulation: Preliminary Step

WOS: 000360665300018A preliminary investigation is made to form work flow charts about activities that are carried out in Cukurova University Faculty of Medicine (CUFM) by collecting meta-information that might be needed. According to the data from literature it is noteworthy that many of the faculties in Turkey have work flow charts but there is not any optimization study about work flow organisation scheme. Due to this, a project, consisting of four stages, which are information gathering, forming work flow charts according to the gathered information and control of these charts by relevant experts, forming of simulation models by putting the problems forward, and lastly using optimization modelling method, is prepared. In this study, which covers first and second stages, difficulties that are encountered, advantages and disadvantages of work flow charts are presented

Reversible ageusia associated with clopidogrel treatment

WOS: 000239211900031PubMed ID: 16804280

Mitochondrial Diseases: Clinical Features- Management of Patients

Mitochondria are unique organells which their own DNA in cells. Human mitochondrial DNA is circular, double-stranded molecule and small. Because all mitochondria are contributed by the ovum during the formation of the zygote, the mitochondrial genom is transmitted by maternal inheritance. Multisystem disorders such as deafness, cardiomyopathy, miyopathy can be seen in mitochondrial diseases. [Archives Medical Review Journal 2003; 12(0.100): 14-31

Vascular compression of multiple cranial nerves - The clinical syndromes

WOS: 000253936000014Abnormal changes such as loops, tortuosity, and ectasia in vascular structures that form vertebrobasilar system can cause mechanical vascular-compression syndromes. Neurologic symptoms might be encountered by compression of one or more of these cranial nerves. The compression of 3 nerves together has not been reported in the literature. Here, we present a patient with facial pain, vertigo, and tinnitus associated with the vascular compression of 5, 7, and 8 cranial nerves. A 52-year-old man was admitted to the clinic with complaints of pain located in the left upper part of face, with tinnitus being prominent on the left, and positional vertigo developing occasionally. The physical and neurologic examinations were normal. Cerebral magnetic resonance imaging and magnetic resonance angiography showed tortuosity in both the vertebral arteries and in the basilar artery, as well as the external compression of trigeminal 5, 7, and 8 nerve complexes by the intradural segment of the left vertebral artery. Internal acoustic channel magnetic resonance imaging revealed the compression of the 7 and 8 nerve complexes by the left basilar artery