Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme

Toplam kayıt 2912, listelenen: 1782-1801

    • Mutations In Wdr62, Encoding A Centrosome-Associated Protein, Cause Microcephaly With Simplified Gyri And Abnormal Cortical Architecture 

      Yu, Timothy W.; Mochida, Ganeshwaran H.; Tischfield, David J.; Sgaier, Sema K.; Flores-Sarnat, Laura; Sergi, Consolato M.; Topçu, Meral; McDonald, Marie T.; Barry, Brenda J.; Felie, Jillian; Sunu, Christine; Dobyns, William B.; Folkerth, Rebecca D.; Barkovich, A. James; Walsh, Christopher A. (2010)
      Genes associated with human microcephaly, a condition characterized by a small brain, include critical regulators of proliferation, cell fate, and DNA repair. We describe a syndrome of congenital microcephaly and diverse ...

    • Mycobacterial Disease And Impaired Ifn-Gamma Immunity In Humans With Inherited Isg15 Deficiency 

      Bogunovic, Dusan; Byun, Minji; Durfee, Larissa A.; Abhyankar, Avinash; Sanal, Ozden; Mansouri, Davood; Salem, Sandra; Radovanovic, Irena; Grant, Audrey V.; Adimi, Parisa; Mansouri, Nahal; Okada, Satoshi; Bryant, Vanessa L.; Kong, Xiao-Fei; Kreins, Alexandra; Velez, Marcela Moncada; Boisson, Bertrand; Khalilzadeh, Soheila; Ozcelik, Ugur; Darazam, Ilad Alavi; Schoggins, John W.; Rice, Charles M.; Al-Muhsen, Saleh; Behr, Marcel; Vogt, Guillaume; Puel, Anne; Bustamante, Jacinta; Gros, Philippe; Huibregtse, Jon M.; Abel, Laurent; Boisson-Dupuis, Stephanie; Casanova, Jean-Laurent (Amer Assoc Advancement Science, 2012)
      ISG15 is an interferon (IFN)-alpha/beta-inducible, ubiquitin-like intracellular protein. Its conjugation to various proteins (ISGylation) contributes to antiviral immunity in mice. Here, we describe human patients with ...

    • Myeloprotective Effect Of Short-Course High-Dose Methylprednisolone Treatment Before Consolidation Therapy In Children With Acute Myeloblastic Leukemia 

      Aytac-Elmas, S; Cetin, M; Tuncer, M; Hicsonmez, G (Wiley, 2005)
      In our previous studies, short-course high-dose methylprednisolone (HDMP) has been shown to shorten the chemotherapy-induced neutropenic period by stimulating the CD34(+) hematopoietic progenitor cells in children with ...

    • Myo1E Mutations And Childhood Familial Focal Segmental Glomerulosclerosis 

      Mele, Caterina; Iatropoulos, Paraskevas; Donadelli, Roberta; Calabria, Andrea; Maranta, Ramona; Cassis, Paola; Buelli, Simona; Tomasoni, Susanna; Piras, Rossella; Krendel, Mira; Bettoni, Serena; Morigi, Marina; Delledonne, Massimo; Pecoraro, Carmine; Abbate, Isabella; Capobianchi, Maria Rosaria; Hildebrandt, Friedhelm; Otto, Edgar; Schaefer, Franz; Macciardi, Fabio; Ozaltin, Fatih; Emre, Sevinc; Ibsirlioglu, Tulin; Benigni, Ariela; Remuzzi, Giuseppe; Noris, Marina (Massachusetts Medical Soc, 2011)
      BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of ...

    • Myocardial Infarction And Deep Venous Thrombosis In A Young Patient With Behcet Disease 

      Calguneri, M; Aydemir, K; Ozturk, MA; Haznedaroglu, IC; Kiraz, S; Ertenli, I (Sage Publications Inc, 2006)
      Behcet disease (BD) is a chronic relapsing systemic vasculitic disorder affecting the arteries, veins, and vessels of any size. Vascular lesions in BD usually represent an occlusive nature suggesting a hypercoagulable/ ...

    • Myocarditis Associated With Influenza Infection In Five Children 

      Aykac, Kubra; Ozsurekci, Yasemin; Kahyaoglu, Pinar; Basaranoglu, Sevgen T.; Ertugrul, Ilker; Alp, Alpaslan; Cengiz, Ali B.; Kara, Ates; Ceyhan, Mehmet (Elsevier Science London, 2018)
      Background: Myocarditis is an inflammatory condition located mainly in the myocardium. It is caused by a variety of bacterial and viral infections. Influenza is one of the most common relevant viruses that cause myocarditis. ...

    • Myophosphorylase (Pygm) Mutations Determined By Next Generation Sequencing In A Cohort From Turkey With Mcardle Disease 

      Inal-Gultekin, Guldal; Toptas-Hekimoglu, Bahar; Gormez, Zeliha; Gelisin, Ozlem; Durmus, Hacer; Erguner, Bekir; Demirci, Huseyin; Sagiroglu, Mahmut S.; Parman, Yesim; Deymeer, Feza; Yilmaz-Aydogan, Hulya; Pence, Sadrettin; Bekircan-Kurt, Can Ebru; Tan, Ersin; Erdem-Ozdamar, Sevim; Ustek, Duran; Giger, Urs; Ozturk, Oguz; Serdaroglu-Oflazer, Piraye (Pergamon-Elsevier Science Ltd, 2017)
      This study aimed to identify PYGM mutations in patients with McArdle disease from Turkey by next generation sequencing (NGS). Genomic DNA was extracted from the blood of the McArdle patients (n = 67) and unrelated healthy ...

    • Nail Changes In Patients With Inflammatory Bowel Diseases 

      Ekiz, Ozlem; Celik, Ebru; Balta, Ilknur; Sen, Bilge Bulbul; Rifaioglu, Emine Nur; Demir, Mehmet; Ekiz, Fuat; Basar, Omer; Yuksel, Osman (Tubitak Scientific & Technical Research Council Turkey, 2016)
      Background/aim: Inflammatory bowel disease (IBD) is a group of inflammatory conditions of the colon and small intestine. To our knowledge, no studies to date pertain to the profile of nail changes in IBD, except for ...

    • Nasal Natural Killer/T-Cell Lymphoma With Skin, Eye, And Peroneal Nerve Involvement 

      Türker, Burcu; Uz, Burak; Işık, Metin; Bektaş, Özlen; Demiroğlu, Haluk; Sayınalp, Nilgün; Üner, Aysegül; Özcebe, Osman İlhami (2012)
      Nasal-type natural killer (NK)/T-cell lymphoma (NKTL) is a rare disease strongly associated with Epstein-Barr virus and is often localized to the upper aerodigestive tract at presentation. Extranodal NKTL may involve any ...

    • Nasal Nitric Oxide Levels In Primary Ciliary Dyskinesia, Cystic Fibrosis And Healthy Children 

      Guney, Elif; Emiralioglu, Nagehan; Cinel, Guzin; Yalcin, Ebru; Dogru, Deniz; Kiper, Nural; Ozcelik, Hayriye Ugur (2019)
      Primary ciliary dyskinesia (PCD) is a rare, inherited disorder characterized by recurrent respiratory tract infections. The measurement of nasal nitric oxide (nNO) is an important test for the diagnosis of PCD. In this ...

    • Natural History And Early Diagnosis Of Lad-1/Variant Syndrome 

      Kuijpers, Taco W.; van Bruggen, Robin; Kamerbeek, Nanne; Tool, Anton T. J.; Hicsonmez, Gonul; Gurgey, Aytemiz; Karow, Axel; Verhoeven, Arthur J.; Seeger, Karl; Sanal, Ozden; Niemeyer, Charlotte; Roos, Dirk (Amer Soc Hematology, 2007)
      The syndrome of leukocyte adhesion deficiency (LAD) combined with a severe Glanzmann-type bleeding disorder has been recognized as a separate disease entity. The variability in clinical and cell biological terms has remained ...

    • Natural History Of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey 

      Akinci, Bans; Onay, Huseyin; Demir, Tevfik; Ozen, Samim; Kayserili, Hulya; Akinci, Gulcin; Nur, Banu; Tuysuz, Beyhan; Ozbek, Mehmet Nun; Gungor, Adem; Simsir, Ilgin Yildirim; Altay, Canan; Demir, Leyla; Simsek, Enver; Atmaca, Murat; Topaloglu, Haluk; Bilen, Habib; Atmaca, Hulusi; Atik, Tahir; Cavdar, Umit; Altunoglu, Umut; Aslanger, Ayca; Mihci, Ercan; Secil, Mustafa; Saygili, Fusun; Comlekci, Abdurrahman; Garg, Abhimanyu (Oxford Univ Press, 2016)
      Context: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near-total lack of body fat. Objective: We aimed to study natural history and disease burden of various subtypes ...

    • Natural History Of T1N0M0 Hepatocellular Carcinoma: Large-Scale Study In The United States 

      Al-Shamsi, Humaid O.; Abdel-Wahab, Reham; Hassan, Manal M.; Shalaby, Ahmed S.; Dahbour, Ibrahim; Lacin, Sahin; Mahvash, Armeen; Odisio, Bruno C.; Murthy, Ravi; Avritscher, Rony; Abdelsalam, Mohamed E.; Rashid, Asif; Vauthey, Jean-Nicolas; Aloia, Thomas A.; Conrad, Claudius; Chun, Yun Shin; Krishnan, Sunil; Das, Prajnan; Koay, Eugene J.; Amin, Hesham M.; Yao, James C.; Kaseb, Ahmed O. (Karger, 2017)
      Background: Hepatocellular carcinoma (HCC) prognosis depends on clinicopathological features in addition to the treatment provided. We aimed to assess the natural history of TNM stage I HCC tumors which received different ...

    • Naturally Acquired Hepatitis a Antibodies After Haematopoetic Stem Cell Transplantation 

      Yalcin, Sıdıka Songul; Kondolot, Meda; Goker, Hakan; Kuskonmaz, Baris; Karacan, Y; Cetin, Mualla; Aksu, Salih; Tezcan, Ilhan; Uckan, Duygu (Cambridge University Press, 2011)
      Haematopoietic stem cell transplant (HSCT) recipients lose immune memory of exposure to infectious agents and vaccines accumulated throughout their lifetime and therefore need to be revaccinated. We aimed to evaluate the ...

    • Nbeal2 Is Mutated In Gray Platelet Syndrome And Is Required For Biogenesis Of Platelet Alpha-Granules 

      Gunay-Aygun, Meral; Falik-Zaccai, Tzipora C; Vilboux, Thierry; Zivony-Elboum, Yifat; Gumruk, Fatma; Cetin, Mualla; Khayat, Morad; Boerkoel, Cornelius F; Kfir, Nehama; Huang, Yan; Maynard, Dawn; Dorward, Heidi; Berger, Katherine; Kleta, Robert; Anikster, Yair; Arat, Mutlu; Freiberg, Andrew S; Kehrel, Beate E; Jurk, Kerstin; Cruz, Pedro; Mullikin, Jim C; White, James G; Huizing, Marjan; Gahl, William A (2011)
      Gray Platelet Syndrome (GPS) is an autosomal recessive bleeding disorder with large platelets that lack α-granules. We found that mutations of NBEAL2 (neurobeachin-like 2), encoding a BEACH/ARM/WD40 domain protein, cause ...

    • Necrotizing Fasciitis Secondary To Bevacizumab Treatment For Metastatic Rectal Adenocarcinoma 

      Şendur, Mehmet A. N.; Aksoy, Sercan; Özdemir, Nuriye Yıldırım; Zengin, Nurullah (2014)
      Bevacizumab is a recombinant humanized monoclonal antibody that selectively blocks the activity of vascular endothelial growth factor (VEGF) receptor and it is used in metastatic colorectal patients. We present here a case ...

    • Necrotizing Pneumonia Caused By Streptococcus Pneumoniae Serotype 3 Despite Pcv13 

      Alkan, Gulsum; Emiroglu, Melike; Dagi, Hatice T.; Gurbuz, Venhar; Ceyhan, Mehmet (2019)
      Streptococcus pneumoniae is the most common cause of complicated pneumonia. Pneumococcal necrotizing pneumonia (PNP) is a rare and serotype related complication. Serotypes 1, 3, 14, 15, 19A and 33 were the most reported ...

    • Need For Comprehensive Hormonal Workup In The Management Of Adrenocortical Tumors In Children 

      Gönç, E. Nazlı; Özön, Zeynep Alev; Çakır, Meltem Didem; Alikaşifoğlu, Ayfer; Kandemir, Nurgün (2014)
      Ob­jec­ti­ve: Clinical findings do not reflect the excess hormonal status in adrenocortical tumors (ACTs) in children. Identification of abnormal hormone secretion may help provide the tumor marker and delineate those ...

    • Needlestick Injury To A Patient 

      Onal, E; Tanriover, M; Guven, G. (2008)

    • Neisseria Meningitidis Serogroup X St-5799 (St-22 Complex) In Turkey: A Unique Pediatric Case 

      Tanir, Gonul; Ozsurekci, Yasemin; Lucidarme, Jay; Durmus, Sevgi Yasar; Lekshmi, Aiswarya; Akisoglu, Ozlem; Aycan, Ahmet Emre; Borrow, Ray; Ceyhan, Mehmet (Taylor & Francis Inc, 2018)
      Although outbreaks of Neisseria meningitidis serogroup X occured in a couple of African countries, a limited number of serogroup X meningococcal cases were reported in America and Europe as well as Turkey. Additionally, ...