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Publication Metadata only 14 Mart: Kurtuluş Mücadelesinin İlk Kıvılcımı(2018-03-01) YILDIRIM, NURAN; YILDIRIM, NURANPublication Metadata only 15 Haftalık Fetusun İntrauterin Fetal Ölümü ile Sonuçlanan Boynuna ve Sol Koluna Dolanmış Umblikal Kord(2016-01-01) YILMAZ, BÜLENT; ŞEVKET, OSMAN; ATEŞ, SEDA; şekerci, zehra; ÖZKAL, FULYA; KELEKÇİ, SEFA; ŞEVKET, OSMAN; ATEŞ, SEDAPublication Metadata only 57PD NEOADJUVANT CHEMORADIOTHERAPY FOR LOCALLY ADVANCED NON SMALL CELL LUNG CANCER(2013-04-01) ZİYADE, SEDAT; ZİYADE, SEDATPublication Metadata only A clinical and microbiological comparison of Er: YAG laser and mechanical debridement for the nonsurgical periodontal therapy: a randomized controlled clinical study(2018-06-01) ZENGİN ÇELİK, TUĞBA; ERCAN, ÇİLEM; AKBAŞ, FAHRİ; SAĞLAM, EBRU; Nazaroğlu, KENAN; TUNALI, MUSTAFA; ZENGİN ÇELİK, TUĞBA; ERCAN, ÇİLEM; AKBAŞ, FAHRİ; TUNALI, MUSTAFAPublication Open Access A case of Behçet-s disease possibly triggered by β-glucan.(2016-02-01) Gulsel, BA; IRFAN, KT; ULAS, G; UMIT, T; KIYMET, B; GULIZ, I; BAHALI, ANIL GÜLSELPublication Metadata only A case of Budd-Chiari syndrom associated with alveolar echinococcosis(2014-04-01) KARADAS, SEVDEGUL; GÜLTEPE, BİLGE; DULGER, AHMET CUMHUR; BEYAZAL, MEHMET; SÜMBÜL, BİLGEPublication Metadata only A case of cerebral phaeohyphomycosis caused by Fonsecaea monophora, a neurotropic dematiaceous fungus, and a review of the literature(2015-03-01) Doymaz, Mehmet Z.; Gultepe, Bilge S.; Hakyemez, Ismail; CEVIK, Serdar; ASLAN, Turan; DOYMAZ, MEHMET ZIYA; SEYİTHANOĞLU, MEHMET HAKAN; HAKYEMEZ, İSMAİL NECATİ; SÜMBÜL, BİLGEThe Fonsecaea species, which are the leading causes of chromoblastomycosis, are not considered neurotropic fungal agents. Fonsecaea pedrosoi is the primary species in the genus and is usually isolated from chromoblastomycosis cases. However, the recently distinguished species F. monophora has been reported in a few cerebral phaeohyphomycosis cases. Here, a case of cerebral phaeohyphomycosis caused by Fonsecaea monophora is presented in a 71-year-old female subject with chronic diabetes mellitus and hypertension. The identification of F. monophora was made through mycological and molecular analysis, and an isolate was differentiated from the closely related F.pedrosoi by sequence data on key bases on the ribosomal internal transcribed spacer region. The case was successfully treated with surgical and medical approaches, and the patient has remained healthy and stable after a ten-month follow up. Given the increasing incidence of this type of infection of the central nervous system (CNS), this case provides further support for the consideration that F. monophora might represent a neurotropic agent.Publication Open Access A Case of Chronic Lymphocytic Leukemia in Two Brothers(2017-01-01) GULTEPE, Ilhami; OZKAN, Tuba; Cetin, GÜVEN; ÇETİN, GÜVENMonoclonal B-cell lymphocytosis is accepted as an important risk factor for developing lymphocytosis familial chronic lymphocytic leukemia (CLL) but does not meet the criteria for B-cell lymphoproliferative disease, and patients with <5,000 ( but not 0) CLL-phenotype B-cell lymphocytes per mm 3. Individuals with lymphocytosis who have relatives diagnosed with CLL should undergo flow cytometry for early diagnosis. In our study, a 56-year-old patient-s brother had been early diagnosed with CLL and with lymphocytosis, and the patient was diagnosed with class 1-2 CLL after 2 years. We emphasize that individuals having a family history of CLL should be closely monitored.Publication Metadata only A case of congenital hypothyroidism presented with dysmyelinization findings(2014-09-01) YUCA, SEVİL ARI; YILMAZ, CAHİDE; KAYA, AVNİ; USTYOL, LOKMAN; SAL, ERTAN; CESUR, YAŞAR; ÇAKSEN, HÜSEYİN; CESUR, YAŞARPublication Metadata only A case of HELLP syndrome complicated with acute pancreatitis Akut Pankreatit ile Komplike HELPP Sendromu(2016-05-13) BAKAR, RABİA ZEHRA; AYDIN, SERDAR; Aydin, SİNEM; ARIOGLU AYDIN, Çaǧri; BATMAZ, Gonca; BAKAR, RABIA ZEHRA; AYDIN, SERDAR; AYDIN, SİNEMPublication Open Access A Case of Primary Hypoparathyroidism Presenting with Acute Kidney Injury Secondary to Rhabdomyolysis.(2016-01-01) SUMNU, A; AYDIN, Z; GURSU, MELTEM; UZUN, S; KARADAG, S; CEBECI, E; OZTURK, S; Kazancioglu, RÜMEYZA; GÜRSU, MELTEM; KAZANCIOĞLU, RÜMEYZASymmetric calcification of the basal ganglia identified radiographically occurs in a variety of familial and nonfamilial conditions. Primary Familial Brain Calcifications (PFBC), which were known by many names previously, including Fahr disease and striopallidodentate calcinosis, are a genetic disease characterized by various mutations in four separate genes and autosomal dominant inheritance [1–4]. PFBC may present with various psychiatric and neurological symptoms [5]. On the other hand, many secondary causes, either infectious, toxic, or metabolic, have been described to cause symmetrical basal ganglion calcifications and so are in the differential diagnosis of PFBC [6]. Parathyroid diseases such as hypoparathyroidism, pseudohypoparathyroidism, and pseudo-pseudohypoparathyroidism are in the forefront among the metabolic causes. Idiopathic or postsurgical hypoparathyroidism is the most common cause of symmetric calcification of the basal ganglia [7–9]. Herein, a case of primary hypoparathyroidism with severe tetany, rhabdomyolysis, and acute kidney injury (AKI) is presented.Publication Metadata only A case of rhabdomyolysis complicated with acute renal failure after resumption of fenofibrate therapy: a first report.(2013-05-01) KıSKAÇ, MUHARREM; ZORLU, MEHMET; CAKIRCA, MUSTAFA; Karatoprak, CUMALİ; PERU, C; ERKOÇ, R; YAVUZ, E; KISKAÇ, MUHARREM; ZORLU, MEHMET; ÇAKIRCA, MUSTAFA; KARATOPRAK, CUMALİPublication Open Access A case of severe combined immunodeficiency caused by adenosine deaminase deficiency with a new mutation.(2018-02-01) Turel, O; AYGUN, D; KARDAS, M; TORUN, EMEL; HERSHFIELD, M; CAMCıOGLU, Y; TÜREL, ÖZDEN; TORUN, EMELAdenosine deaminase (ADA) deficiency is among the most common causes of severe combined immunodeficiency, characterized by dysfunction of the T, B, and natural killer (NK) cells (T-B-NK-SCID) and severe lymphopenia.1 ADA is a key enzyme in the purine salvage pathway, the absence of which causes lymph-toxic deoxyadenosine triphospate (dATP) accumulation, inhibiting ribonucleotide reductase, a critical enzyme for DNA replication and repair. This effect impairs the lymphocyte development and function resulting in severe combined immune deficiency (SCID).1,2 ADA deficiency is autosomal recessively inherited through mutations in the ADA gene, which is located on chromosome 20q13.12. Herein, we will describe the identification of a novel splicing mutation in the ADA gene in a patient with SCIDPublication Metadata only A case of venous thrombosis of the upper extremity in patient with minimal change disease(2013-01-01) SUMNU, Abdullah; Gursu, MELTEM; UZUN, Sami; KARADAG, Serhat; Aydın, Zeki; CEBECI, Egemen; OZTURK, Savas; KAZANCIOĞLU, RÜMEYZA; GÜRSU, MELTEM; KAZANCIOĞLU, RÜMEYZAPublication Open Access A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene(2017-09-01) Eser, Metin; Ayaz, Akif; YEŞİL, GÖZDE; YEŞİL, GÖZDERubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.Publication Metadata only A catastrophic leptospirosis case with multisystemic involvement(2019-02-01) Sümbül, Hilmi Erdem; GÜLTEPE, BİLGE; Büyükşimşek, Mahmut; Saraçoğlu Sümbül, Merve; Karakoç, Emre; SÜMBÜL, BİLGEPublication Metadata only A clinical variant in SCN1A inherited from a mosaic father cosegregates with a novel variant to cause Dravet syndrome in a consanguineous family(2015-07-01) Tuncer, FN; Altıokka uzun , G; Gormez, Z; Calik , M; Yuksel, B; Sagiroglu, MS; Iscan, AKIN; Yuceturk , B; Ugur Iseri, SA; Bebek, N; Baykan, B; Ozbek , U; İŞCAN, AKINA consanguineous family from Turkey having two children with intellectual disability exhibiting myoclonic, febrile and other generalized seizures was recruited to identify the genetic origin of these phenotypes. A combined approach of SNP genotyping and exome sequencing was employed both to screen genes associated with Dravet syndrome and to detect homozygous variants. Analysis of exome data was extended further to identify compound heterozygosity. Herein, we report identification of two paternally inherited genetic variants in SCN1A (rs121917918; p.R101Q and p.I1576T), one of which was previously implicated in Dravet syndrome. Interestingly, the previously reported clinical variant (rs121917918; p.R101Q) displayed mosaicisnn in the blood and saliva of the father. The study supported the genetic diagnosis of affected children as Dravet syndrome possibly due to the combined effect of one clinically associated (rs121917918; p.R101Q) and one novel (p.I1576T) variants in SCN1A gene. This finding is important given that heterozygous variants may be overlooked in standard exome scans of consanguineous families. Thus, we are presenting an interesting example, where the inheritance of the condition may be misinterpreted as recessive and identical by descent due to consanguinity and mosaicism in one of the parents. (C) 2015 Elsevier B.V. All rights reserved.Publication Metadata only A clinically unsuspected nasopharyngeal sarcoidosis.(2016-05-01) TUGRUL, SELHATTİN; GOKTAS, SS; OZUCER, B; SÖNMEZ, FATMA CAVİDE; Özturan, ORHAN; TUĞRUL, SELAHATTİN; SÖNMEZ, FATMA CAVİDE; ÖZTURAN, ORHANPublication Metadata only A COMPARATIVE STUDY OF PARATHYROID TRANSPORT SOLUTION AND UNIVERSITY OF WISCONSIN SOLUTION: EFFECT ON CALCIUM-SENSING RECEPTOR AND VITAMIN-D RECEPTOR DURING COLD ISCHEMIA IN PARATHYROID TISSUE(2019-10-01) Goncu, Beyza; Yucesan, Emrah; Ozdemir, Burcu; Akbaş, Fahri; Kazancıoğlu, Rümeyza; Aysan, Erhan; GÖNCÜ, BEYZA SERVET; AKBAŞ, FAHRİ; KAZANCIOĞLU, RÜMEYZAPublication Open Access A Comparative Study on Magnetostructural Properties of Barium Hexaferrite Powders Prepared by Polyethylene Glycol(2014-01-01) Durmus, ZEHRANanocrystalline particles of barium hexaferrite were synthesized by a sol-gel combustion route using nitrate-citrate gels prepared from metal nitrates and citric acid solutions with Fe/Ba molar ratio 12. The present paper aims to study the effect of addition of polyethylene glycol (PEG) solutions with different molecular weights (MW: 400, 2000, and 10.000 g/mol) on magnetostructural properties of barium hexaferrite. The formation of the barium hexaferrite was inspected using X-ray diffraction (XRD) analysis, Fourier transform infrared (FT-IR) analysis, thermogravimetric (TGA) analysis, scanning electron microscopy (SEM) analysis and vibrating sample magnetometer (VSM) analysis for magnetic measurements.