Browsing by Author "Yilmaz C."

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    AT-101 acts as anti-proliferative and hormone suppressive agent in mouse pituitary corticotroph tumor cells
    (Springer International Publishing, 2018) Yurekli B.S.; Karaca B.; Kisim A.; Bozkurt E.; Atmaca H.; Cetinkalp S.; Ozgen G.; Yilmaz C.; Uzunoglu S.; Uslu R.; Saygili F.
    Purpose: Gossypol, a naturally occurring compound in cottonseeds, has anticancer effects against several tumor cell lines. It has been extensively studied in clinical trials and is well tolerated with a favorable safety profile. AT-101, a derivative of R (−)-gossypol, binds to Bcl-2 family proteins and induces apoptosis in vitro. Although transsphenoidal surgical excision of the pituitary corticotroph adenoma is the gold standard of care, it is not successful all the time. Medical therapy for Cushing’s disease still remains a challenge for the clinicians. We aimed to investigate the cytotoxic and apoptotic effects of AT-101 in mouse pituitary corticotroph tumor AtT20 cells. Methods: Cytotoxic effect of AT-101 was assessed by XTT cell viability assay. Apoptosis was shown by measuring DNA fragmentation and Caspase-3/7 activity. Changes in mRNA expressions of apoptosis-related genes were investigated by qPCR array after treatment with AT-101. ACTH was measured by ACTH-EIA Kit. Results: AT-101 induced cytotoxicity and apoptosis in AtT20 cells. mRNA levels of pro-apoptotic genes such as TNFR-SF-10B, Bid, PYCARD, Caspase-8, Caspase-3, and Caspase-7 were induced by 2.0-, 1.5-, 1.7-, 1.5-, 1.6-, and 2-fold, respectively, in AtT20 cells by AT-101 treatment. Moreover, some of the anti-apoptotic genes such as BCL2L10, NAIP1, and PAK-7 were reduced by 2.1-, 2.3-, 4.0-fold, respectively, in AtT20 cells. AT-101 also decreased ACTH secretion significantly. Conclusion: AT-101 induces apoptosis in mouse pituitary corticotroph tumor cells. © 2017, Italian Society of Endocrinology (SIE).
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    Coinheritance of novel mutations in NAGLU causing mucopolysaccharidosis type IIIB and in DDHD2 causing spastic paraplegia54 in a Turkish family
    (Churchill Livingstone, 2020) Gun Bilgic D.; Gerik Celebi H.B.; Aydin Gumus A.; Bilgic A.; Yazici H.; Ceylaner S.; Yilmaz C.; Polat M.; Akbal Sahin M.; Dereli F.; Cam F.S.
    Mucopolysaccharidosis type IIIB (MPSIIIB) is one of the lysosomal storage diseases, clinically related to developmental delay in the early phase and loss of skills in the late phases of the disease. The disease is caused by homozygous mutations in the NAGLU gene. Spastic paraplegia54 (SPG54) is a neurodegenerative disorder caused by homozygous mutations in the DDHD2 gene. Clinical features are progressive spasticity and weakness in the lower limbs and corpus callosum agenesis. We report on two siblings in a consanguineous family, presenting both the clinical and molecular diagnoses of MPSIIIB and SPG54 with novel mutations by using whole exome sequencing (WES). This interesting finding shows that we should be aware of the importance of using WES for diagnosing rare diseases in consanguineous families. © 2020 Elsevier Ltd
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    An important source of preanalytical error in medical laboratories: Centrifugation
    (De Gruyter Open Ltd, 2021) Sonmez C.; Gümüs A.; Senes M.; Aykal G.; Taneli F.; Aksungar F.; Avci E.; Coskun C.; Çinaroglu I.; Colak A.; Eker P.; Güçel F.; Hakligor A.; Inal B.B.; Orhan B.; Yilmaz C.
    Centrifugation separates particles within the specimen according to their shape, dimensions, and density and basically can be defined as a separation method. The centrifuge is an essential device in medical laboratories to prepare the serum, plasma, and urine samples for analysis. It is basically an electric device composed of the stationary (motor) and the motile (rotor) part. The centrifugation depends on two main variables: relative centrifugal force (RCF) and centrifugation time. The physical impact separating the specimen into its components in the centrifuge known as RCF is expressed as the multiples of gravitational acceleration (×g). RPM, defined as the number of rotations of the centrifuge perminute, shows the speed of the centrifuge. RCF value can be calculated by using RPM, and the centrifuge radius. Because models and sizes of centrifuges vary considerably, the use of gravity (g) forces instead of RPM is suggested. The centrifuges can be classified according to their usage, speed, technical specifications, and rotor type. An accurate and precise centrifugation process is essential to prevent errors in the preanalytical phase. The purpose of this document is to ensure the standardization of a good, precise protocol for the centrifugation process among the medical laboratories. © 2021 De Gruyter. All rights reserved.
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    Inflammatory Prognostic Index in Metastatic Renal Carcinoma Treated with Nivolumab
    (College of Physicians and Surgeons Pakistan, 2022) Ekinci F.; Erdogan A.P.; Yildirim S.; Bulut G.; Yilmaz C.; Barutca S.
    Objective: To evaluate the utility of inflammatory prognostic index (IPI), albumin, c-reactive protein (CRP), and lactate dehydrogenase (LDH) as predictive biomarkers of oncologic outcome in metastatic renal cell cancer (mRCC) patients treated with nivolumab. Study Design: Descriptive study. Place and Duration of Study: Manisa Celal Bayar University, Aydın Adnan Menderes University, Bitlis Tatvan State Hospital and Private Hatay Defne Hospital Medical Oncology Clinics, Turkey, from January 2017 to June 2020. Methodology: Seventy-five mRCC patients treated with nivolumab between January 2017 and June 2020 were enrolled. Several factors were retrospectively investigated, including IPI, CRP, LDH, and albumin level, for their association with progression-free survival (PFS) and overall survival (OS). The IPI was calculated as CRP × NLR/albumin. Univariate and multivariate analyses were performed to assess the prognostic value of relevant factors. Results: When analysed according to the calculated IPI score, it is seen that the group with <2.153 has an OS duration of 96.3 months, while the group with ≥2.153 has a shorter time of 42.9 months (p=0.02). In the analysis performed according to albumin level, it was reported that those with low levels (22.8 months) had worse median OS than those with high levels (92.8 months) (p=0.004). According to the cox regression analysis results, it was determined that those with a high IPI score significantly increased the risk of death compared to those with a low score (HR:2.4, p=0.023). However, this significance could not be confirmed in the multivariate analysis. It was analysed that those with low albumin levels significantly increased the risk of death compared to both univariate analysis (HR:3.3, p=0.007) and multivariate analysis (HR:4.4, p=0.003). Conclusion: Those with high IPI scores and low albumin levels were associated with worse median OS. However, only the multivariate analysis analysed albumin level as an independent prognostic variable. Prospective and more extensive research is needed to consolidate the potential prognostic power of these markers. © 2022 College of Physicians and Surgeons Pakistan. All rights reserved.
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    A view on pediatric airway management: a cross sectional survey study
    (Edizioni Minerva Medica, 2022) Saracoglu A.; Saracoglu K.T.; Sorbello M.; Kurdi R.; Greif R.; Abitagaoglu S.; Akin M.; Aksu A.; Aladag E.; Alagoz A.; Alanoglu Z.; Alicikus Tuncel Z.; Altinisik H.B.; Ambrosoli A.L.; Amella S.; Andrašovský A.; Andreotti A.; Arici A.G.; Armstrong J.; Arslan B.; Ávila E.; Aydogmus I.; Ayhan A.; Ayoglu H.; Ayvat P.; Bakis M.; Basaran B.; Baytar C.; Begec Z.; Belete A.; Belludi R.; Bianco M.C.; Bilgin M.U.; Biricik E.; Brueggeney M.K.; Bunjaku D.; Buyukkocak U.; Catineau J.; Cebrián C.G.; Chinnappa S.M.; Cicekci A.; Corte-Ballester J.; Cuéllar Martínez A.B.; Caglar T.; Calisir F.; Cokay Abut Y.; Delen L.A.; Deligoz O.; Demirgan S.; Distefano R.; Dmytriiev D.; Duarte L.; Ece C.; El-Tahan M.; El-Hatib M.; Erdogan Ari D.; Erkalp K.; Erol D.; Erturk E.; Frada R.; Fuchs A.; Garini E.; Gecici M.E.; Giallongo M.; Gomes C.; Gurbuz H.; Has Selmi N.; Hasani A.; Hernandez Cera C.; Hilker T.; Horatanaruang D.; Huitink J.; Karaaslan P.; Karaveli A.; Karisik M.; Kavas A.D.; Kaya A.; Kendigelen P.; Kilinc G.; Koc S.; Dilmen O.; Kozanhan B.; Kupeli I.; Kuyrukluyildiz U.; Lleshi A.; Loizou M.; Luanpholcharoenchai J.; Martinez V.; Matoshi D.; Maurya I.; Meco B.C.; Michalek P.; Milic M.; Mitre I.; Montealegre F.; Nair A.; Nallbani R.; Ng A.; Oc B.; Ok G.; Olguner C.; Ozkan D.; Oksuz G.; Ozcan M.S.; Ozden E.S.; Ozden Omaygenc D.; Ozer Y.; Ozmenoglu Turker H.; Ozmert S.; Rai E.; Rangappa D.; Roca De Togores A.; Salgado H.; Santos P.; Sari S.; Saritas A.; Saygi Emir N.; Sen B.; Shallik N.; Shamim F.; Shirgoska B.; Silay E.; Sinha T.; Srimueang T.; Sudarshan P.; Sugur T.; Sumer I.; Szucs Z.; Sahin T.; Sanal Bas S.; Tan J.; Tawfik L.; Topal S.; Toy E.; Turan Civraz A.Z.; Unal D.; Ural S.G.; Ustalar Ozgen S.Z.; Uysal H.; Yesildal H.; Yilmaz C.; Yuen V.; Yurt E.; Yuzkat N.; Zdravkovic M.; Isohanni M.
    BACKGROUND: This survey aimed to investigate routine practices and approaches of clinicians on pediatric airway in anesthesia and intensive care medicine. METHODS: A 20-question multiple-choice questionnaire with the possibility to provide open text answers was developed and sent. The survey was sent to the members of European Airway Management Society via a web-based platform. Responses were analyzed thematically. Only the answers from one representative of the pediatric service of each hospital was included into the analysis. RESULTS: Among the members, 143 physicians responded the survey, being anesthesiologists (83.2%), intensivists (11.9%), emergency medicine physicians (2.1%), and (2.8%) pain medicine practitioners. Astraight blade was preferred by 115 participants (80.4%) in newborns, whereas in infants 86 (60.1%) indicated a curved blade and 55 (38.5%) a straight blade. Uncuffed tracheal tube were preferred by 115 participants (80.4%) in newborns, whereas 24 (16.8%) used cuffed tubes. Approximately 2/3 of the participants (89, 62.2%) reported not to use routinely a cuff manometer in their clinical practice, whereas 54 participants (37.8%) use it routinely in pediatric patients. Direct laryngoscopy for routine pediatric tracheal intubation was reported by 127 participants (88.8%), while 16 (11.2%) reported using videolaryngoscopes routinely. Interestingly, 39 (27.3%) had never performed neither videolaryngoscopy nor flexible bronchoscopy in children. These results were significantly less in hospitals with a dedicated pediatric anesthesiologist. CONCLUSIONS: This survey on airway management in pediatric anesthesia revealed that the use of cuffed tubes and the routine monitoring of cuff pressure are rare. In addition, the rate of videolaryngoscopy or flexible optical intubation was low for expected difficult intubation. Our survey highlights the need for properly trained pediatric anesthesiologists working in-line with updated scientific evidence. © 2022 Edizioni Minerva Medica. All rights reserved.
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    Two siblings with horizontal gaze palsy and ROBO3 gene mutation: A double case study
    (ASEAN Neurological Association, 2022) Orak S.A.; Erdogan M.; Yilmaz C.; Atasever A.K.; Kubur C.C.; Polat M.
    Horizontal gaze palsy along with progressive scoliosis (HGPPS) is rare and autosomal recessive disease related to the mutations in the ROBO3 gene located on chromosome 11q23-25. We present here two siblings from parents of consanguineous marriage, who were diagnosed with bilateral horizontal gaze restriction and scoliosis associated with homozygous mutation within ROBO3 gene and at the same time having neuroimaging findings. With HGPSS’s typical findings, we detected a homozygous c.1366G> T (p.Gly456Ter) variant in the ROBO3 gene in our patients. HGPPS should be confirmed by ROBO3 gene analysis, and the brain MRI may be the first diagnostic technique. © 2022, ASEAN Neurological Association. All rights reserved.
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    Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous NAPB Gene Variant
    (S. Karger AG, 2024) Orak S.A.; Gün Bilgiç D.; Çerçi Kubur C.; Atasever A.K.; Yilmaz C.; Polat M.
    Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling. Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy. Discussion/Conclusion: The NAPB gene encodes proteins in the SNARE complex. A previously unidentified homozygous missense variant in the NAPB gene may have contributed significantly to the etiology of our patient with epileptic encephalopathy. We also summarize the clinical, radiological, laboratory, and genetic findings of previously published patients with NAPB variants. © 2024 S. Karger AG, Basel.
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    Neurocognitive effects and electrophysiological findings in ADHD and self-limiting centrotemporal spike wave epilepsy (SeLECTS) − A prospective tertiary care study
    (Academic Press Inc., 2024) Orak S.A.; Bilaç Ö.; Polat M.; Sobay N.S.; Yalçin A.H.; Korkmaz R.; Kubur Ç.Ç.; Atasever A.K.; Yilmaz C.; Özyurt B.C.
    Objective: The study aimed to determine the prevalence of attention deficit hyperactivity disorder (ADHD) in patients with self-limiting epilepsy with centrotemporal spike wave (SeLECTS), as well as the electroclinical features associated with this comorbid condition and the neurocognitive effects using psychometric tests. Additionally, we analysed the electrophysiological findings and neurocognitive status of patients with ADHD to estimate the prevalence of epilepsy and neurocognitive effects in the ADHD population and evaluate their clinical features. Method: The study included patients diagnosed with SeLECT and ADHD who were matched for age and gender. Electrophysiological tests, psychometric tests, demographic and clinical characteristics of SeLECTS patients aged 7–13 years and ADHD patients of similar age were analysed. The study examined electrophysiological and psychometric tests, as well as demographic and clinical characteristics. Both groups underwent testing using the Wechsler Intelligence Scale for Children (WISC-R), Stroop Colour and Word Test (SCWT), and EEG (Electroencephalogram). The SeLECT group also underwent the Bender Visual-Motor Gestalt Test. Rsults: No significant relationship was found between the SeLECT and ADHD groups in terms of age and gender. The rate of epileptiform discharge in EEG findings without a diagnosis of epilepsy was 5.6 % (n = 2) in the ADHD group. The rate of ADHD in the SeLECTS group was 28 % (n = 11). Although all subsections of the WISCR test were higher in the ADHD patient group than in the SeLECTS patient group, only verbal IQ and total IQ showed a significant difference. No significant differences were found between the completion times, error rates, and correction averages of the SCWT sections in both groups. There was no significant correlation found between the performance IQ, verbal IQ, and total intelligence scores in either the isolated SeLECTS patient group or the SeLECTS + ADHD patient group (p > 0.05). However, it is worth noting that verbal IQ was below normal in both groups and slightly lower in the SeLECT + ADHD group. Additionally, the mean SeWT completion time was significantly longer in the SeLECT + ADHD group than in the isolated SeLECT group. However, no significant difference was found in the Bender Gestalt Visual Motor Perception Test. In the psychometric analyses comparing the isolated SeLECTS, SeLECT + ADHD, and ADHD patient groups, the SCWT completion times were significantly longer in the SeLECT + ADHD group than in the other two groups. The verbal IQ score was significantly higher in the ADHD group than in the other two groups. Conclusion: In conclusion, although SeLECTS is commonly considered a benign form of epilepsy, our study found a high rate of comorbidity with ADHD. This condition has a negative impact on verbal intelligence and sustained attention, highlighting the importance of a complete neuropsychological evaluation at the stage of epilepsy diagnosis. It is crucial not to overlook the possibility of an ADHD diagnosis. © 2024