Evaluation of Genetic Analysis with Autosomal Recessive Bestrophinopathy

Ali Mert Kocer,Mehmet Yasin Teke,Furkan Emre Sogut 한국망막학회 2019 Journal of Retina Vol.4 No.2

Purpose: We aimed to report a patient with autosomal recessive bestrophinopathy (ARB) who have novel compound heterozygous mutations in BEST1. Case summary: A 35-year old male patient who had no history of known trauma and disease was admitted to our hospital with bilateral visual disturbance since his childhood. Dilated fundus examination revealed widespread yellow-white subretinal accumulation and white scar formation on both posterior poles. Hyperfluorescent foci were observed along the vessel arcades in fundus autofluorescence imaging. Optical coherence tomography showed serous subretinal fluid under the bilateral macula. Arden rate was found to be 1.32 for right eye and 1.28 for left eye in the electrooculography examination. Bestrophinopathy was considered in the patient and a genetic examination test was performed for BEST1 gene. The whole gene sequence analysis test (Miseq-Illumina) performed on the BEST1 gene of the patient resulted in c.604C>T (p.Arg202Trp) (pR202W) /c.1013G>A (p.Trp338 *) (p.W338*) compound heterozygous mutation. Conclusions: ARB is a rare disease and usually associated with consanguineous marriage, the disease may also occur with different mutations of both spouses. For this reason, it is important that ophthalmologists consider the possibility of best retinopathy even in the absence of a consanguineous history.

The Triglyceride-Glucose Index Can Predict Long-Term Major Adverse Cardiovascular Events in Turkish Patients With High Cardiovascular Risk

Mert İlker Hayıroğlu,Tufan Çınar,Vedat Çiçek,Ali Palice,Görkem Ayhan,Ahmet İlker Tekkeşin 한국지질동맥경화학회 2022 지질·동맥경화학회지 Vol.11 No.3

Objective There is an evidence gap regarding the predictive accuracy of the triglyceride-glucose (TyG) index for long-term major adverse cardiovascular events (MACEs) in individuals with high cardiovascular risk. The aim of this investigation was to evaluate the predictive value of the TyG index for long-term MACEs in patients at high cardiovascular risk. Methods In total, 483 patients with high cardiovascular risk were included in this analysis. The study population was separated into 2 groups depending on the occurrence of long-term MACEs. The independent predictors of long-term MACEs in patients with high cardiovascular risk were investigated. The long-term prognostic value of the TyG index in these patients was evaluated in terms of MACEs. Results Age, male sex, diabetes mellitus, and the TyG index were demonstrated to be independent predictors of long-term MACE occurrence in patients with high cardiovascular risk. The TyG index was independently related to long-term MACEs in patients with high cardiovascular risk (hazard ratio, 1.003; 95% confidence interval [CI], 1.001–1.006; p=0.011). The receiver operating characteristic curve revealed that the optimum value of the TyG index to predict long-term MACEs in the overall study cohort was >9.68, with 65% sensitivity and 63% specificity (area under the curve, 0.71; 95% CI, 0.65–0.77; p<0.001). Conclusion The TyG index was demonstrated to be an independent predictor of long-term MACE occurrence in patients with high cardiovascular risk who had not been previously diagnosed with cardiovascular disease.

Novel Foraminal Expansion Technique

Ali Fahir Ozer,Salim Senturk,Mert Ciplak,Tunc Oktenoglu,Mehdi Sasani,Emrah Egemen,Onur Yaman,Tuncer Suzer 대한척추외과학회 2016 Asian Spine Journal Vol.10 No.4

The technique we describe was developed for cervical foraminal stenosis for cases in which a keyhole foraminotomy would not be effective. Many cervical stenosis cases are so severe that keyhole foraminotomy is not successful. However, the technique outlined in this study provides adequate enlargement of an entire cervical foraminal diameter. This study reports on a novel foraminal expansion technique. Linear drilling was performed in the middle of the facet joint. A small bone graft was placed between the divided lateral masses after distraction. A lateral mass stabilization was performed with screws and rods following the expansion procedure. A cervical foramen was linearly drilled medially to laterally, then expanded with small bone grafts, and a lateral mass instrumentation was added with surgery. The patient was well after the surgery. The novel foraminal expansion is an effective surgical method for severe foraminal stenosis.

An Early Prenatal Diagnosis of a 69, XXY Case Using Quantitative Fluorescent PCR (QF-PCR) in Uncultured Amniocytes

Mehmet Ali Ergun,Meral Yirmibes Karaoguz,Aydan Biri,Elif Pala,Mert Kuskucu 한국유전학회 2006 Genes & Genomics Vol.28 No.1

High capacity carbon dioxide adsorption by inexpensive covalent organic polymers

Patel, Hasmukh A.,Karadas, Ferdi,Canlier, Ali,Park, Joonho,Deniz, Erhan,Jung, Yousung,Atilhan, Mert,Yavuz, Cafer T. The Royal Society of Chemistry 2012 Journal of materials chemistry Vol.22 No.17

<P>Efficient CO<SUB>2</SUB> scrubbing without a significant energy penalty remains an outstanding challenge for the fossil fuel-burning industry where aqueous amine solutions are still widely used. Porous materials have long been evaluated for next generation CO<SUB>2</SUB> adsorbents. Porous polymers, robust and inexpensive, show promise as feasible materials for the capture of CO<SUB>2</SUB> from warm exhaust fumes. We report the syntheses of porous covalent organic polymers (COPs) with CO<SUB>2</SUB> adsorption capacities of up to 5616 mg g<SUP>−1</SUP> (measured at high pressures, <I>i.e.</I> 200 bar) and industrially relevant temperatures (as warm as 65 °C). COPs are stable in boiling water for at least one week and near infinite CO<SUB>2</SUB>/H<SUB>2</SUB> selectivity is observed.</P> <P>Graphic Abstract</P><P>Covalent organic polymers (COPs) for CO<SUB>2</SUB> capture (mmol g<SUP>−1</SUP>). <IMG SRC='http://pubs.rsc.org/services/images/RSCpubs.ePlatform.Service.FreeContent.ImageService.svc/ImageService/image/GA?id=c2jm30761h'> </P>

Highly Stable Nanoporous Sulfur‐Bridged Covalent Organic Polymers for Carbon Dioxide Removal

Patel, Hasmukh A.,Karadas, Ferdi,Byun, Jeehye,Park, Joonho,Deniz, Erhan,Canlier, Ali,Jung, Yousung,Atilhan, Mert,Yavuz, Cafer T. WILEY‐VCH Verlag 2013 Advanced Functional Materials Vol.23 No.18

<P><B>Abstract</B></P><P>Carbon dioxide capture and separation requires robust solids that can stand harsh environments where a hot mixture of gases is often found. Herein, the first and comprehensive syntheses of porous sulfur‐bridged covalent organic polymers (COPs) and their application for carbon dioxide capture in warm conditions and a wide range of pressures (0–200 bar) are reported. These COPs can store up to 3294 mg g<SUP>−1</SUP> of carbon dioxide at 318 K and 200 bar while being highly stable against heating up to 400 °C. The carbon dioxide capacity of the COPs is also not hindered upon boiling in water for at least one week. Physisorptive binding is prevalent with isosteric heat of adsorptions around 24 kJ mol<SUP>−1</SUP>. M06–2X and RIMP2 calculations yield the same relative trend of binding energies, where, interestingly, the dimer of triazine and benzene play a cooperative role for a stronger binding of CO<SUB>2</SUB> (19.2 kJ mol<SUP>−1</SUP>) as compared to a separate binding with triazine (13.3 kJ mol<SUP>−1</SUP>) or benzene (11.8 kJ mol<SUP>−1</SUP>).</P>

Clinical Features and Etiology of Adult Patients with Fever and Rash

( Fehmi Tabak ),( Aysan Murtezaoglu ),( Omur Tabak ),( Resat Ozaras ),( Bilgul Mete ),( Zekayi Kutlubay ),( Ali Mert ),( Recep Ozturk ) 대한피부과학회 2012 Annals of Dermatology Vol.24 No.4

Background: Patients with fever and rash often pose an urgent diagnostic and therapeutic dilemma for the clinician. The nonspecificity of many fever and rash syndromes mandates a systemic approach to diagnosis. Objective: We aimed to determine the etiology of fever and rash in 100 adult patients followed-up as in- or outpatients prospectively. Methods: All the patients, who presented with rash and fever, were followed-up prospectively and their clinical and laboratory studies were evaluated. Results: The median age was 35 years (14∼79 years); 45 were female and 55 were male. Patients were divided into 3 groups according to the etiology: infectious (50%), noninfectious (40%) and undiagnosed (10%). The most common type of rash was maculopapular, and the most common 5 causes were measles, cutaneous drug reactions, varicella, adult-onset Still`s disease (ASD) and rickettsial disease. Viral diseases among infectious causes and cutaneous drug reactions, among the noninfectious causes, were determined as the main diseases. The mortality rate was 5% and the reasons of mortality were as follows: toxic epidermal necrolysis (2 patients), ASD (1), staphylococcal toxic shock syndrome (1) and graft-versus-host disease (1). Conclusion: Adult patients with fever and rash had a wide differential diagnosis. The most common type of rash was determined as maculopapular, and the most frequent five diseases were measles, drug reactions, chickenpox, ASD and rickettsial infection. Viral diseases among infectious causes and drug reactions among noninfectious causes were determined as the leading etiologies. (Ann Dermatol 24(4) 420∼425, 2012)

Prognostic factors and treatment outcomes in surgically­staged non­invasive uterine clear cell carcinoma: a Turkish Gynecologic Oncology Group study

Mustafa Erkan Sarı,Mehmet Mutlu Meydanlı,Osman Türkmen,Günsü Kimyon Cömert,Ahmet Taner Turan,Alper Karalök,Hanifi Şahin,Ali Haberal,Eda Kocaman,Özgür Akbayır,Baki Erdem,Ceyhun Numanoğlu,Kemal Güngördü 대한부인종양학회 2017 Journal of Gynecologic Oncology Vol.28 No.4

Objective: To assess the prognosis of surgically-staged non-invasive uterine clear cell carcinoma (UCCC), and to determine the role of adjuvant therapy. Methods: A multicenter, retrospective department database review was performed to identify patients with UCCC who underwent surgical treatment between 1997 and 2016 at 8 Gynecologic Oncology Centers. Demographic, clinicopathological, and survival data were collected. Results: A total of 232 women with UCCC were identified. Of these, 53 (22.8%) had surgically-staged non-invasive UCCC. Twelve patients (22.6%) were upstaged at surgical assessment, including a 5.6% rate of lymphatic dissemination (3/53). Of those, 1 had stage IIIA, 1 had stage IIIC1, 1 had stage IIIC2, and 9 had stage IVB disease. Of the 9 women with stage IVB disease, 5 had isolated omental involvement indicating omentum as the most common metastatic site. UCCC limited only to the endometrium with no extra-uterine disease was confirmed in 41 women (73.3%) after surgical staging. Of those, 13 women (32%) were observed without adjuvant treatment whereas 28 patients (68%) underwent adjuvant therapy. The 5-year disease-free survival rates for patients with and without adjuvant treatment were 100.0% vs. 74.1%, respectively (p=0.060). Conclusion: Extra-uterine disease may occur in the absence of myometrial invasion (MMI), therefore comprehensive surgical staging including omentectomy should be the standard of care for women with UCCC regardless of the depth of MMI. Larger cohorts are needed in order to clarify the necessity of adjuvant treatment for women with UCCC truly confined to the endometrium.

Whole Brain Radiotherapy Combined with Stereotactic Radiosurgery versus Stereotactic Radiosurgery Alone for Brain Metastases

Adas, Yasemin Guzle,Yazici, Omer,Kekilli, Esra,Akkas, Ebru Atasever,Karakaya, Ebru,Ucer, Ali Riza,Ertas, Gulcin,Calikoglu, Tamer,Elgin, Yesim,Inan, Gonca Altinisik,Kocer, Ali Mert,Guney, Yildiz Asian Pacific Journal of Cancer Prevention 2015 Asian Pacific journal of cancer prevention Vol.16 No.17

Background: The aim of this study was to evaluate the effect of whole brain radiotherapy (WBRT) combined with streotactic radiosurgery versus stereotactic radiosurgery (SRS) alone for patients with brain metastases. Materials and Methods: This was a retrospective study that evaluated the results of 46 patients treated for brain metastases at Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Radiation Oncology Department, between January 2012 and January 2015. Twenty-four patients were treated with WBRT+SRS while 22 patients were treated with only SRS. Results: Time to local recurrence was 9.7 months in the WBRT+SRS arm and 8.3 months in SRS arm, the difference not being statistically significant (p=0.7). Local recurrence rate was higher in the SRS alone arm but again without significance (p=0,06). Conclusions: In selected patient group with limited number (one to four) of brain metastases SRS alone can be considered as a treatment option and WBRT may be omitted in the initial treatment.