Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 1842-1861
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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 ... -
Novel Variant Syndrome Associated With Congenital Hepatic Fibrosis
(Baishideng Publishing Group Inc, 2015)Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalohepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual ... -
Nphs2 Gene Mutation In An Iranian Family With Familial Steroid-Resistant Nephrotic Syndrome
(Soc Espanola Nefrologia Dr Rafael Matesanz, 2012) -
Nrg (Tm) Rf Powered Transseptal Needle: A Useful Technique For Transcatheter Atrial Septostomy And Fontan Fenestration: Report Of Three Cases
(Assoc Basic Medical Sci Federation Bosnia & Herzegovina Sarajevo, 2014)Transseptal puncture (TSP) is a frequently performed procedure for gaining access to the left atrium for catheter ablation, hemodynamic assessment of the left heart, left ventricular assist device implantation, percutaneous ... -
Nuclear Factors Involved In Mitochondrial Translation Cause A Subgroup Of Combined Respiratory Chain Deficiency
(2011)Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial ... -
Nuclear Medicine In Thyroid Diseases In Pediatric And Adolescent Patients
(2015)Both benign and malignant diseases of the thyroid are rare in the pediatric and adolescent population, except congenital hypothyroidism. Nuclear medicine plays a major role, both in the diagnosis and therapy of thyroid ... -
Nuclear Theranostics In Turkey
(2019)Nuclear theranostics functions as a bridge which connects targeted diagnosis to targeted therapy, just like Turkey functions as a geographical bridge which connects Asia to Europe. This unique geographical site of the ... -
Number of Erythrocyte Transfusions is more Predictive than Serum Ferritin in Estimation of Cardiac Iron Loading in Pediatric Patients with Acute Lymphoblastic Leukemia.
(Elsevier, 2014)Background Transfusions with packed erythrocytes is a common practice in pediatric patients with acute lymphoblastic leukemia (ALL) who are on chemotherapy. Since there is no physiological excretion mechanism for iron, ... -
Nusinersen Initiated In Infants During The Presymptomatic Stage Of Spinal Muscular Atrophy: Interim Efficacy And Safety Results From The Phase 2 Nurture Study
(2019)• NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA. • All infants were ≥25 months old, and alive without permanent ... -
Nusinersen Versus Sham Control In Infantile-Onset Spinal Muscular Atrophy
(Massachusetts Medical Soc, 2017)BACKGROUND & para;& para;Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide ... -
Nutritional Assessment Of Children On Haemodialysis: Value Of Igf-I, Tnf-Alpha And Il-1 Beta
(Oxford Univ Press, 1998)Background. Protein-energy malnutrition (PEM) is associated with increased morbidity and mortality in haemodialysis (HD) patients. Insulin-like growth factor I (IGF-I) has proved to be a sensitive marker of malnutrition, ...