Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 1829-1848
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Non-Immune Hydrops Fetalis: A Retrospective Analysis Of 151 Autopsies Performed At A Single Center
(Turkish J Pediatrics, 2018)We retrospectively evaluated autopsies performed on 151 non-immune hydrops fetalis (NIHF) cases to determine the etiology and pathological findings. Further, cases identified between 1980 and 2004 were compared with those ... -
Non-Invasive Separation Of Alcoholic And Non-Alcoholic Liver Disease With Predictive Modeling
(2014)Background & Objective Currently, a major clinical challenge is to distinguish between chronic liver disease caused by metabolic syndrome (non-alcoholic fatty liver disease, NAFLD) from that caused by long term or excessive ... -
Non-Steroidal Anti-Inflammatory Drug Hypersensitivity In Adults And The Factors Associated With Asthma
(W B Saunders Co Ltd, 2013)Background: Characteristics of non-steroidal anti-inflammatory drug (NSAID)-hypersensitivity (NH) associated with underlying/accompanying diseases has not been studied in Turkey. In addition, the factors associated with ... -
Nonimmune Hydrops Fetalis In Two Cases Of Consanguineous Parents And Associated With Hereditary Spherocytosis And Hemophagocytic Hystiocytosis
(Nature Publishing Group, 2007)Nonimmune hydrops fetalis may occur as a result of different etiological conditions and in about one-third of cases no cause could be identified. Here, we report two cases of nonimmune hydrops fetalis associated with ... -
Noninvasive Cardiac Imaging For The Diagnosis Of Coronary Artery Disease In Women
(Turkish Soc Cardiology, 2014)Cardiovascular diseases are the foremost cause of morbidity and mortality for both genders worldwide. Appropriate diagnostic tests with increased accuracy and safety provide the decisive relationship between diagnosis and ... -
Nonmyeloablative Hematopoietic Stem Cell Transplantation in a Patient with Hereditary Pulmonary Alveolar Proteinosis
(2021-02)Nonmyeloablative hematopoietic stem cell transplantation in a patient with hereditary pulmonary alveolar proteinosis -
Nonradioactive Vitamin B-12 Absorption Test Evaluated In Controls And In Patients With Inherited Malabsorption Of Vitamin B-12
(Amer Assoc Clinical Chemistry, 2005)Background: Current tests for evaluation of vitamin B-12 absorption are problematic because they involve the use of radioactively labeled vitamin B-12. We describe a vitamin B-12 absorption test that circumvents this ... -
Nonsustained Atrial Fibrillation In Ischemic Stroke Patients And Stroke‐Free Controls From The Perspective Of Stroke Pathophysiology
(2016)Background Short‐lasting (<30 s), nonsustained episodes of atrial fibrillation (NS‐AF) are considered a risk factor for future development of paroxysmal or persistent AF. Nonetheless, their causal role in stroke pathogenesis ... -
Non‐Hodgkin's Lymphomas In Turkey: Eighteen Years’Experience At The Hacettepe University
(1994)In this retrospective study, 470 patients with non‐Hodgkin's lymphoma (NHL) who had been followed in the Hacettepe University Medical Oncology Department between 1973 and 1990, were evaluated to establish their epidemiologic, ... -
Normal 25-Hydroxyvitamin D Levels Are Associated With Less Proteinuria And Attenuate Renal Failure Progression In Children With Ckd
(Amer Soc Nephrology, 2016)Angiotensin-converting enzyme inhibitors (ACEi) for renin-angiotensin-aldosterone system (RAAS) blockade are routinely used to slow CKD progression. However, vitamin D may also promote renoprotection by suppressing renin ... -
Novel "Y" Stent Flow Diversion Technique For The Endovascular Treatment Of Bifurcation Aneurysms Without Endosaccular Coiling
(Amer Soc Neuroradiology, 2011)BACKGROUND AND PURPOSE: Stent-assisted endovascular treatment and flow diversion techniques are increasingly used for the management of wide-neck intracranial aneurysms. We report our initial clinical experience using a ... -
Novel Atp6V1B1 And Atp6V0A4 Mutations In Autosomal Recessive Distal Renal Tubular Acidosis With New Evidence For Hearing Loss
(Bmj Publishing Group, 2002)Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokolaemia, decreased urinary calcium solubility, and impaired bone physiology and ... -
Novel Hax1 Mutations In Patients With Severe Congenital Neutropenia Reveal Isoform-Dependent Genotype-Phenotype Associations
(Amer Soc Hematology, 2008)Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. ... -
Novel Mutations Consolidate Kctd7 As A Progressive Myoclonus Epilepsy Gene
(Bmj Publishing Group, 2012)Background The progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous disorders characterised by myoclonus, epilepsy, and neurological deterioration. This study aimed to identify ... -
Novel Mutations In Alox12B In Patients With Autosomal Recessive Congenital Ichthyosis And Evidence For Genetic Heterogeneity On Chromosome 17P13
(Nature Publishing Group, 2007)We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes ... -
Novel Mutations In Genes Causing Hereditary Spastic Paraplegia And Charcot-Marie-Tooth Neuropathy Identified By An Optimized Protocol For Homozygosity Mapping Based On Whole-Exome Sequencing
(Nature Publishing Group, 2016)Purpose: Homozygosity mapping is an effective approach for detecting molecular defects in consanguineous families by delineating stretches of genomic DNA that are identical by descent. Constant developments in next-generation ... -
Novel Mutations In The Pc Gene In Patients With Type B Pyruvate Carboxylase Deficiency
(Springer-Verlag Berlin, 2013)We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a ...