Dil "en" Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu için listeleme
Toplam kayıt 1961, listelenen: 61-80
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A Patient Heterozygous for R92Q Mutation with Periodic Fever and Aphthous Stomatitis, Pharyngitis, and Adenitis (Pfapa) Syndrome-Like Phenotype
(Turkish J Pediatrics, 2018)Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disease caused by mutations located on the type 1 tumor necrosis factor receptor (TNFRSF1A) gene. Here we present a 3-year-old ... -
A Patient-Derived and Patient-Reported Outcome Measure For Assessing Psoriatic Arthritis: Elaboration and Preliminary Validation of The Psoriatic Arthritis Impact of Disease (Psaid) Questionnaire, A 13-Country Eular Initiative
(BMJ, 2014)Introduction The objective was to develop a questionnaire that can be used to calculate a score reflecting the impact of psoriatic arthritis (PsA) from the patients' perspective: the PsA Impact of Disease (PsAID) questionnaire. ... -
A Phase II, Multicenter, Single-Arm Study to Evaluate the Safety and Efficacy of Deferasirox after Hematopoietic Stem Cell Transplantation in Children with Beta-Thalassemia Major
(Elsevier Science Inc, 2018)We conducted a prospective, phase II, multicenter, single-arm study to evaluate the efficacy and safety of deferasirox in patients age >2 to <18 years with beta-thalassemia major (TM) who underwent hematopoietic stem cell ... -
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ... -
A Pheochromocytoma Case Diagnosed As Adrenal Incidentaloma
(Turkish J Pediatrics, 2017)There are two problems that needs to be addressed in cases of an adrenal incidentaloma. The first is to decide whether the adrenal mass is benign or malignant, and the second is to determine whether the mass is hormonally ... -
A Population-Based Study for the Standardization of the Turkish Version of the Modified Mini Mental State Examination (3Ms) and Assessment of Certain Environmental Risk Factors for Dementia: Methodology and Sample Characteristics
(Turkiye Sinir Ve Ruh Sagligi Dernegi, 2018)Objective: The diagnosis of neurocognitive disorders requires an objective assessment of the patient's cognitive status and activities of daily living. No cognitive screening test with normative values exists in Turkey. ... -
A Preliminary Score for The Assessment of Disease Activity in Hereditary Recurrent Fevers: Results From The Aidai (Auto-Inflammatory Diseases Activity Index) Consensus Conference
(BMJ, 2011)Background The systemic autoinflammatory disorders (SAID) share many clinical manifestations, albeit with variable patterns, intensity and frequency. A common definition of disease activity would be rational and useful in ... -
A Prospective International Aspergillus Terreus Survey: An Efisg, Isham and Ecmm Joint Study
(Elsevier Sci Ltd, 2017)Objectives: A prospective international multicentre surveillance study was conducted to investigate the prevalence and amphotericin B susceptibility of Aspergillus terreus species complex infections. Methods: A total of ... -
A Prospective Multicenter Study On The Evaluation Of Antimicrobial Resistance And Molecular Epidemiology Of Multidrug-Resistant Acinetobacter Baumannii Infections In Intensive Care Units With Clinical And Environmental Features
(2019)Background Multidrug-resistant (MDR) Acinetobacter baumannii infections are considered as emerging nosocomial infections particularly in patients hospitalized in intensive care units (ICUs). Therefore, reliable detection ... -
A Qualitative Study on Corporal Punishment And Emotionally Abusive Disciplinary Practices Among Mothers of Children With Adhd
(Taylor & Francis Ltd, 2018)OBJECTIVES: The present study aimed to investigate actual disciplinary behaviours of Turkish mothers' in the context of relational environment and to investigate ADHD as a risk factor on abusive disciplinary practices. ... -
A Rare And Overlooked Mechanical Complication Of Partial Nephrectomy: Accelerated Hypertension Due To Renal Artery Stenosis
(2019)Secondary hypertension accounts for 5% to 10% of all hypertensive cases, and renal artery stenosis is one of the most common causes of secondary hypertension. Although atherosclerotic vascular disease and fibromuscular ... -
A Rare But Potentially Fatal Disease Of Colon
(Sage Publications Inc, 2018) -
A Rare Case of Pediatric Bullous Spontaneous Acute Urticaria
(Karger, 2018)Objective: Acute spontaneous bullous urticaria is an extremely rare entity, and there are few reports with blister formation in acute urticaria patients. Clinical Presentation and Intervention: We present a 2-year-old girl ... -
A Rare Cause of Carpal Tunnel Syndrome in Childhood: Benign Recurrent Intrahepatic Cholestasis
(De Gruyter Poland Sp Zoo, 2010)Carpal tunnel syndrome and benign recurrent intrahepatic cholestasis are rare conditions in childhood. Benign intrahepatic cholestasis is characterized by repeated self-limited attacks of cholestasis that can start at any ... -
A Rare Malignant Hepatic Tumor of Childhood: Transitional Liver Cell Tumor Revisited
(Assoc Royal Soc Scientifiques Medicales Belges, 2015)Transitional liver cell tumor is an extremely rare entity and has a poor prognosis. It has similar histopathologic findings with hepatoblastoma and hepatocellular carcinoma. Up to now, only 10 cases have been reported in ... -
A Rare Retrovesical Hydatid Cyst and Value of Transrectal Ultrasonography in Diagnosis: A Case Report and Review of the Literature
(Soc Romana Ultrasonografe Medicina Biologie-Srumb, 2017)We present a large hydatid cyst located midline and posterior to prostatic gland and seminal vesicles in an asymptomatic patient. Computed tomography (CT) scan revealed a large retrovesical mass and the transrectal ... -
A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy
(Nature Publishing Group, 2015)Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown ...