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Conference paper Metadata only 2 Kirpinar I, Gormez A, Kurtulmus A. A case of Niemann-Pick type C disease with juvenile onset neuropsychiatric symptoms.(2016-09-20) KIRPINAR, İSMET; Görmez, Aynur; Kurtulmuş, AYŞE; KIRPINAR, İSMET; KURTULMUŞ, AYŞEConference paper Metadata only 2012-2017 Yılları Arasında Dispeptik Hastalarda Helicobacter pylori Antijen Prevalansı(2018-05-13) GÜLTEPE, BİLGE; CEYLAN, AYŞE NUR; SÜMBÜL, BİLGE; CEYLAN, AYŞE NURConference paper Metadata only 3D (Three-dimensional) evaluation of ischemic damaged brain area and correlation of them with clinical symptoms(2015-09-06) ARİFOĞLU, YASİN; ARİFOĞLU, YASİNArticle Metadata only 57PD NEOADJUVANT CHEMORADIOTHERAPY FOR LOCALLY ADVANCED NON SMALL CELL LUNG CANCER(2013-04-01) ZİYADE, SEDAT; ZİYADE, SEDATArticle 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, MUSTAFAArticle 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 GÜLSELArticle 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, BİLGEConference paper Metadata only A CASE OF CARBON MONOXİDE POİSONİNG RESULTİNG WİTH EKG CHANGİNGS AND NEUROLOGİCAL DEFECTS ARE SHOWN WİTH MRI(2013-05-24) KARAYEL, EDA; SÖNMEZ, ERTAN; DUR, ALİ; YAMAN, ASLI; KÜÇÜKDAĞLI, OKKEŞ T; LİSAR, HAZAR; ERŞAN, TEZCAN; YILMAZ, CAHİT; MASUR, BETÜL; SÖNMEZ, ERTANArticle 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.Article 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.Article 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, YAŞARArticle 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, SİNEMConference paper Metadata only A case of Niemann-Pick type C disease with juvenile onset neuropsychiatric symptoms(2016-10-01) Kirpinar, I.; GORMEZ, A.; KURTULMUS, AYŞE; KIRPINAR, İSMET; KURTULMUŞ, AYŞEConference paper Metadata only A case of primary cutaneous aggressive epidermotropic CD8+Cytotoxic T-cell lymphoma(2018-09-01) Dizman, DİDEM; Onsun, NAHİDE; DİZMAN, DİDEM; ONSUN, NAHIDEArticle 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.Article 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, CUMALİArticle 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 SCIDConference paper Metadata only A Case of Suicide by Hara-Kiri in Turkey(2018-11-11) METİN, HÜSEYİN; SAKIN, BEGÜM; TAŞLIDERE, BAHADIR; SÖNMEZ, ERTAN; GÜLEN, BEDİA; METİN, HÜSEYİN; SAKIN, BEGÜM; TAŞLIDERE, BAHADIR; SÖNMEZ, ERTAN; GÜLEN, BEDİAArticle 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, RÜMEYZAArticle 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.