Diagnosis of comorbid migraine without aura in patients with idiopathic/genetic epilepsy based on the gray zone approach to the International Classification of Headache Disorders 3 criteria

BackgroundMigraine without aura (MwoA) is a very frequent and remarkable comorbidity in patients with idiopathic/genetic epilepsy (I/GE). Frequently in clinical practice, diagnosis of MwoA may be challenging despite the guidance of current diagnostic criteria of the International Classification of Headache Disorders 3 (ICHD-3). In this study, we aimed to disclose the diagnostic gaps in the diagnosis of comorbid MwoA, using a zone concept, in patients with I/GEs with headaches who were diagnosed by an experienced headache expert.MethodsIn this multicenter study including 809 consecutive patients with a diagnosis of I/GE with or without headache, 163 patients who were diagnosed by an experienced headache expert as having a comorbid MwoA were reevaluated. Eligible patients were divided into three subgroups, namely, full diagnosis, zone I, and zone II according to their status of fulfilling the ICHD-3 criteria. A Classification and Regression Tree (CART) analysis was performed to bring out the meaningful predictors when evaluating patients with I/GEs for MwoA comorbidity, using the variables that were significant in the univariate analysis.ResultsLonger headache duration (<4 h) followed by throbbing pain, higher visual analog scale (VAS) scores, increase of pain by physical activity, nausea/vomiting, and photophobia and/or phonophobia are the main distinguishing clinical characteristics of comorbid MwoA in patients with I/GE, for being classified in the full diagnosis group. Despite being not a part of the main ICHD-3 criteria, the presence of associated symptoms mainly osmophobia and also vertigo/dizziness had the distinguishing capability of being classified into zone subgroups. The most common epilepsy syndromes fulfilling full diagnosis criteria (n = 62) in the CART analysis were 48.39% Juvenile myoclonic epilepsy followed by 25.81% epilepsy with generalized tonic-clonic seizures alone.ConclusionLonger headache duration, throbbing pain, increase of pain by physical activity, photophobia and/or phonophobia, presence of vertigo/dizziness, osmophobia, and higher VAS scores are the main supportive associated factors when applying the ICHD-3 criteria for the comorbid MwoA diagnosis in patients with I/GEs. Evaluating these characteristics could be helpful to close the diagnostic gaps in everyday clinical practice and fasten the diagnostic process of comorbid MwoA in patients with I/GEs

Aflatoksin B1 Kaynaklı Hepatosellüler Karsinomalarda Aday Moleküler Hedeflerin Analizi

Hepatosellüler karsinoma (H.K.) dünyada en sık görülen kanserler arasında 6. sırada, kanserden ölüm nedenleri arasında da 3. sırada yer almaktadır. Hastalığın tanı ve tedavisinde yeni geliĢmeler olsa da, sıklığı ve kötü prognozu nedeniyle H.K. hala önemli bir sağlık problemi olarak karĢımıza çıkmaktadır. Bu nedenle, moleküler patogenezinin bilinmesi, tanı ve tedavide kullanılabilecek yöntemlerin geliĢtirilmesi açısından çok önemlidir. Temel etiyolojik ajanlar olan hepatit B, hepatit C, aflatoksin B1 (AFB1) ve siroz tüm H.K. vakalarının yaklaĢık %80’inden sorumludur. Aflatoksinler insan gıdalarında, tahıllarda, yemlerde ve her türlü kuru yiyeceklerde saklama koĢullarında rutubetin artmasına ve sıcaklığa bağlı olarak, mantar türleri tarafından üretilen mikotoksinlerdir. Aflatoksinler arasında en bilinen ve genotoksik özelliği nedeniyle mutasyonlara yol açarak kanser geliĢiminine neden olan AFB1’dir. AFB1’e maruz kalmıĢ H.K. vakalarında p53 R249S (G>T) mutasyonu olduğu bilinmektedir. Ancak AFB1 kaynaklı H.K. geliĢiminde, bu mutasyondan baĢka p53 yolağına eĢlik eden diğer yolaklar ya da genlerin mekanizmaları henüz açığa çıkarılamamıĢtır. ÇalıĢmamızda, p53 R249S (G>T) mutasyonundan önce ya da sonra oluĢmuĢ olası genetik değiĢikliklerin tanımlanabilmesi amacıyla R249S mutasyonu taĢıdığı bilinen MAHLAVU ve PLC/PRF hücre hatları kullanılmıĢtır. Karsinogenezde rol oynadığı ve diğer kanser türlerinde mutasyonu bildirilen 115 kanser geni yeni nesil dizi analizi yöntemi ile incelenmiĢtir. Ayrıca, son zamanlarda yüksek çıktılı genom araĢtırmalarında, AFB1 dıĢı faktörlerle oluĢan H.K.’larda mutasyonu gösterilen BCORL1 ve ARID2 genleri de Sanger dizi analizi ile taranmıĢtır. Ġki hücre hattından elde edilen sonuçlar karĢılaĢtırıldığında, toplam 117 gende AFB1 ile iliĢkilendirilebilecek bir genetik değiĢiklik saptanmamıĢtır

Sensitive Detection of Molecular Targets in Cancer by Minisequencing

Purpose: Molecular alterations leading to specific mutations are essential for tumor development and survival. Accurate analysis of these molecular targets is important for diagnosis, early detection, forecasting of prognosis and aiding in the treatment of different cancer types. Therefore, for sensitive analysis of molecular markers, we aimed to optimize and use minisequencing protocols besides Sanger sequencing. Methods and Materials: Sanger sequencing and minisequencing were performed for IDH1 R132, IDH2 R140/R172 and TERT promoter C228/C250 mutations using genomic DNA isolated from glioma samples. Minisequencing reactions were performed with detection primers using SnaPshot Multiplex Ready Reaction Mix and run on an automated capillary electrophoresis. Multiplex peaks were analyzed with GeneMapper Software. Results: In the multiplex minisequencing analyses, peaks corresponding to wild type alleles and different mutations were detected. The presence of the peaks next to the wild type peaks points to the presence of variations in that location and the nature of the mutation can be identified according to the color. Conclusions: Identification of molecular markers in cancer is very important. Minisequencing is a reliable method for the detection of molecular targets

Effects of different head-of-bed elevations and body positions on intracranial pressure and cerebral perfusion pressure in neurosurgical patients

The aim of this study was to evaluate the effects of different head of bed (HOB) elevations and body positions on intracranial pressure (ICP) and cerebral perfusion pressure (CPP) and to identify safe positions for neurosurgical patients with different Glasgow Coma Scale (GCS) scores. Methods: This study with a quasi-experimental, prospective repeated measures is designed with control over the intervention consisted of 30 patients hospitalized in the neurocritical care units (NCU). Patients’ HOB was elevated (degree of 15,30,45) and the patients were at supine, left lateral and right lateral positions. ICP and CPP were recorded for each patient. Results: It was found that ICP increased and CPP decreased at supine, left and right lateral positions with different HOB elevations, which, however, did not reach statistical significance. When patients with a GCS score of 3Y8 were at degree of 15 right and left lateral positions and 45 right lateral position; and when patients with a GCS score of 13Y15 were positioned at degree of 15 left lateral, ICP and CPP changed significantly. Conclusion: The results of this study showed that different positions the patients’ HOB (degree of 15,30,45) led to slight insignificant changes in ICP and CPP; and these values were maintained within the ranges established by recent guidelines

Estimates of genetic parameters for different body weights andmuscle and fat depths of Karayaka lambs

In the current paper the direct additive and maternal genetic effects on birth, weaning (at 90 days of age), and scanning (at 20 weeks of age) weights and muscle and fat depths of the ribeye area in Karayaka lambs were investigated. Analyses were carried out by the restricted maximum likelihood approach, fitting 6 animal models with various combinations of direct and maternal effects. The best model was chosen after testing for improvement in the log-likelihood values. Direct heritability (h2d) for all traits decreased when maternal genetic effects were included in the models. The maternal heritability (h2m) ranged from 0.15 to 0.22 for birth weight, from 0.04 to 0.14 for weaning weight, and from 0.08 to 0.16 for scanning weight. The effects of h2m on muscle depth and fat depth of the ribeye area were not considered due to their insignificance. The permanent environmental effect of the dam was significant for birth, weaning, and scanning weights. Moderate negative genetic correlations (ram) between the direct and maternal genetic effects were observed, which were significant for birth (–0.179 and –0.221), weaning (–0.310 and –0.415), and scanning (–0.116 and –0.141) weights. As a result, h2dand h2m can be used as selection criteria for birth, weaning, and scanning weights in Karayaka lambs.In the current paper the direct additive and maternal genetic effects on birth, weaning (at 90 days of age), and scanning (at 20 weeks of age) weights and muscle and fat depths of the ribeye area in Karayaka lambs were investigated. Analyses were carried out by the restricted maximum likelihood approach, fitting 6 animal models with various combinations of direct and maternal effects. The best model was chosen after testing for improvement in the log-likelihood values. Direct heritability (h2d) for all traits decreased when maternal genetic effects were included in the models. The maternal heritability (h2m) ranged from 0.15 to 0.22 for birth weight, from 0.04 to 0.14 for weaning weight, and from 0.08 to 0.16 for scanning weight. The effects of h2m on muscle depth and fat depth of the ribeye area were not considered due to their insignificance. The permanent environmental effect of the dam was significant for birth, weaning, and scanning weights. Moderate negative genetic correlations (ram) between the direct and maternal genetic effects were observed, which were significant for birth (–0.179 and –0.221), weaning (–0.310 and –0.415), and scanning (–0.116 and –0.141) weights. As a result, h2dand h2m can be used as selection criteria for birth, weaning, and scanning weights in Karayaka lambs

The Effect of Birth Weight on Fattening Performance, Meat Quality, and Muscle Fibre Characteristics in Lambs of the Karayaka Native Breed

This investigation aimed to assess the influence of birth weight on post-weaning fattening performance, meat quality, muscle fibre characteristics, and carcass traits in Karayaka lambs. The study categorized the lambs into three distinct groups based on birth weight: low birth weight (LBW), medium birth weight (MBW), and high birth weight (HBW). Throughout the fattening phase, the lambs were given ad libitum access to food and water, culminating in the slaughter at the end of the study. Following slaughter, warm and cold carcasses were weighted, and specific muscles (longissimus thoracis et lumborum [LTL], semitendinosus [ST], and semimembranosus [SM]) were isolated for the evaluation of muscle weights, muscle fibre types (Type I, Type IIA, and Type IIB), and muscle fibre numbers. Carcass characteristics were also determined, including eye muscle (LTL) fat, loin thickness, and meat quality characteristics, such as pH, colour, texture, cooking loss, and water-holding capacity. The statistical analysis revealed highly significant differences among the experimental groups concerning muscle weights and warm and cold carcass weights (p p p > 0.05). Notably, the birth weight of lambs did not impart a discernible effect on the total number and metabolic activity of muscle fibres in LTL, ST, and SM muscles. Nonetheless, a noteworthy distinction in the fibre area of Type I fibres in the LTL muscle of male lambs (LBW: 30.4 ± 8.9, MBW: 29.1 ± 7.3 and HBW; 77.3 ± 15.4) and in the ST muscle of female lambs (LBW: 44.1 ± 8.1, MBW: 38.8 ± 7.7 and HBW: 36.9 ± 7.1) were evident among the birth weight groups (p < 0.05). The study also found that the mean fat thickness values of eye muscles in Karayaka lambs, as obtained by ultrasonic tests, were below the typical range for sheep. In synthesis, the outcomes of this study underscore the considerable impact of birth weight on slaughtered and carcass weights, emphasizing the positive association between higher birth weights and enhanced carcass yield. Remarkably, despite these pronounced effects on carcass traits, the birth weight did not demonstrate a statistically significant influence on meat quality or overall muscle fibre characteristics, except for the area of Type I fibres in the LTL muscle. This nuanced understanding contributes valuable insights into the intricate relationship between birth weight and various physiological and carcass parameters in Karayaka lambs undergoing post-weaning fattening