Bilge Volkan Salancı

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

GRID2 is a member of the ionotropic glutamate receptor family of excitatory neurotransmitter receptors. GRID2 encodes the glutamate receptor subunit delta-2, selectively expressed in cerebellar Purkinje cells. The phenotype associated with loss of GRID2 function was described only in mice until now, characterized by different degrees of cerebellar ataxia and usually relatively mild abnormalities of the cerebellum. This work describes for the first time the human phenotype associated with homozygous partial deletion of GRID2 in 3 children in one large consanguineous Turkish family. Homozygous deletion of exons 3 and 4 of GRID2 (94 153 589-94 298 037 bp) in the proband and similarly affected cousins, and heterozygous deletions in parental DNA were shown using Affymetrix® 6.0 single-nucleotide polymorphism array, confirmed by real-time polymerase chain reaction. The phenotype includes nystagmus, hypotonia with marked developmental delay in gross motor skills in early infancy followed by a static encephalopathy course with development of cerebellar ataxia, oculomotor apraxia, and pyramidal tract involvement.

SPECT in periodic lateralized epileptiform discharges (PLEDs): a case report on PLEDs.

Periodic lateralized epileptiform discharges (PLEDs), which are known as unusual electroencephalogram (EEG) patterns, are described in a patient who had stroke and seizures. This patient underwent Tc-99m HMPAO (hexamethyl propylene amine oxime) brain single photon emission computed tomography (SPECT) imaging both during PLEDs on EEG and after the cessation of PLEDs. The initial SPECT study revealed increased CBF in the left frontal and parietal cortex extending through the left temporal region and in the left basal ganglium. After the PLEDs disappeared, the second SPECT study showed decreased perfusion on the left frontal and parietal region in the brain. Brain SPECT findings supported the contention that PLEDs may be an ictal phenomenon. Here we also present a review on PLEDs and contributions of brain SPECT as a functional imaging modality to investigate the underlying mechanism of this interesting EEG pattern.

The relationship between changes in functional cardiac parameters following anthracycline therapy and carbonyl reductase 3 and glutathione S transferase Pi polymorphisms.

Abstract The aim of this prospective clinical study is to evaluate the relationship between changes in functional cardiac parameters following anthracycline therapy and carbonyl reductase 3 (CBR3p.V244M) and glutathione S transferase Pi (GSTP1p.I105V) polymorphisms. Seventy patients with normal cardiac function and no history of cardiac disease scheduled to undergo anthracycline chemotherapy were included in the study. The patients’ cardiac function was evaluated by gated blood pool scintigraphy and echocardiography before and after chemotherapy, as well as 1 year following therapy. Gene polymorphisms were genotyped in 70 patients using TaqMan probes, validated by DNA sequencing. A deteriorating trend was observed in both systolic and diastolic parameters from GG to AA in CBR3p.V244M polymorphism. Patients with G-allele carriers of GSTP1p.I105V polymorphism were common (60%), with significantly decreased PFR compared to patiens with AA genotype. Variants of CBR3 and GSTP1 enzymes may be associated with changes in short-term functional cardiac parameters.

Intra-Arterial Radionuclide Therapies for Liver Tumors

Intra-arterial radionuclide therapies serve essentially as internal radiation treatment options for both primary and metastatic liver tumors, which imply delivering implantable radioactive microspheres into branches of hepatic arteries that feed liver tumors to provide a high dose of targeted radiation to tumor tissue, while sparing the healthy liver tissue from hazardous effects of radiation. The principle of this therapeutic option depends on the unique preferential arterial supply of malignant liver tumors in contrast with mostly portal venous supply of normal hepatocytes as well as excess amount of arterial neovascularization in the tumor bed. Therefore, intra-arterial radionuclide therapy can provide very high radiation exposure to tumor tissue, which is impossible to reach with external radiation therapy due to serious side effects and moreover, radiation can be targeted to tumor tissue selectively with less side effects. Yttrium-90 (Y-90), a high-energetic beta emitter is the most preferred radionuclide, which is used to label microspheres. Two types of Y-90 microspheres are commercially available that are made of resin and glass. Many studies in the literature have demonstrated that Y-90 microsphere therapy is an efficient and safe locoregional therapeutic option for unresectable primary and metastatic liver tumors such as hepatocellular carcinoma and liver metastases from colorectal cancer and breast cancer as well as neuroendocrine tumors. Furthermore, limited number of studies has reported its use in some relatively uncommon metastatic liver tumors from melanoma, pancreatic, renal, and lung cancer. Besides Y-90 microspheres, Iodine-131 lipiodol, Rhenium-188 lipiodol, Rhenium-188 microspheres, Holmium-166 chitosan, and Holmium-166 microspheres have been introduced as alternative radiopharmaceuticals for intra-arterial therapy for liver tumors.

Lung hilar Ga-67 uptake in patients with lymphoma following chemotherapy.

Scintigraphic characteristics of lung hilar Ga-67 uptake (HU) and their relationship with the etiology (benign vs. malignant) of the hilar lesions in lymphoma patients following chemotherapy were retrospectively investigated. A total of 161 lymphoma patients were included in the study. The presence/absence of HU and if present, symmetry/asymmetry and intensity of HU (on the basis of a 3 scale grading system) were visually and semiquantitatively assessed on transaxial sections of thorax Ga-67 SPECT. By drawing ROIs over right and left hilum, asymmetry index (AI%) was also calculated. HU was categorized as benign or malignant depending on the radiological correlation and clinical follow-up. In the malignant group, the majority of patients (85.7%) had grade 2 or grade 3 uptake and all had asymmetric pattern. However, in the benign group, grade 1 uptake was more common (66%) and was mainly symmetric (94.6%) in appearance. AI% in the malignant group (73.7 ± 36.6) was significantly higher than in the benign group (5.7 ± 4.9) confirming the marked asymmetry in malignant patients.

TSNM, Procedure Guidelines for Gastroesophageal Reflux and Pulmonary Aspiration Scintigraphy, Gastrointestinal Bleeding Scintigraphy and Meckel’s Diverticulum Scintigraphy in Children

Çocukluk çağında gastrointestinal sistem ile ilgili sık karşılaşılan sintigrafik uygulamalarda nükleer tıp hekimlerine yardımcı olmak amacıyla hazırlanan bu kılavuzda, hastalıklarla ilgili temel bilgiler ve hasta hazırlığından raporlama aşamasına kadar sintigrafik uygulamalar ile ilgili öneriler yer almaktadır. Daha önce 2001 yılında hazırlanmış olan ‘Gastroözefagial reflü ve pulmoner aspirasyon çalışması’ ile ilgili kılavuz güncellenmiş olup, gastrointestinal sistem kanama ve Meckel sintigrafisi ile ilgili uygulamalar da eklenmiştir. Anahtar kelimeler: Sintigrafi, gastroözefagial reflü, pulmoner aspirasyon, Meckel divertikülü, kılavuz

TSNM, Procedure Guideline of Renal Cortical Scintigraphy in Children 2.0

1Mersin Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Mersin, Türkiye 2Acıbadem Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, İstanbul, Türkiye 3Akdeniz Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Antalya, Türkiye 4Selçuk Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Konya, Türkiye 5Dr. Sami Ulus Kadın Doğum ve Çocuk Sağlığı ve Hastalıkları Eğitim Araştırma Hastanesi, Nükleer Tıp Kliniği, Ankara, Türkiye 6Bilim Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, İstanbul, Türkiye 7Hacettepe Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Ankara, Türkiye

TSNM, Procedure Guideline for Dynamic Renal Scintigraphy in Children 2.0

1Dr. Sami Ulus Kadın Doğum ve Çocuk Sağlığı ve Hastalıkları Eğitim Araştırma Hastanesi, Nükleer Tıp Kliniği, Ankara, Türkiye 2Acıbadem Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, İstanbul, Türkiye 3Akdeniz Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Antalya, Türkiye 4Selçuk Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Konya, Türkiye 5Bilim Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, İstanbul, Türkiye 6Mersin Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Mersin, Türkiye 7Hacettepe Üniversitesi Tıp Fakültesi, Nükleer Tıp Anabilim Dalı, Ankara, Türkiye Nedim C. M. Gülaldı1, Tamer Aksoy2, Funda Aydın3, Gonca Kara Gedik4, Emel Ceylan Günay5, Pelin Özcan Kara6, Bilge Volkan Salancı7, Pınar Özgen Kıratlı7

A pilot study for genome wide association study (GWAS) in patients with juvenile idiopathic arthritis (JIA) and their parents

Methods A GWAS using Gene Chip Human Mapping 250K Nsp arrays was performed in 35 trio sets. The patients were grouped into those having oligoarticular or polyarticular JIA and those having SoJIA. Case-control and trio analysis are performed with plink toolset to determine JIA associated SNPs in both patient groups and associated SNPs are prioritized according to their statistical and biological relevance. Enriched genes and pathways within the prioritized SNP list are also analyzed.