• Journal of Genetic Medicine
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• v.16 no.1
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• pp.19-22
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• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.157-160
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• 2016

Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.

• Nuclear Engineering and Technology
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• v.55 no.10
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• pp.3815-3821
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• 2023

Dosimetric studies in Nuclear Medicine are very important, especially with new therapeutic methods, the number of which has increased significantly with the Theranostic approach (determining diagnostic-therapeutic pairs where similar molecules are labelled with different isotopes in order to diagnose and treat malignant diseases). Peptide receptor radionuclide therapy (PRRT) has been used successfully for many years to treat neuroendocrine tumors (NET). ⁹⁰Y-DOTATOC is one of the radiopharmaceuticals used frequently in this type of therapy. In this work, blood and urine samples from 13 patients treated with ⁹⁰Y-DOTATOC were measured by a liquid scintillation beta counter (LSC). Calibration of the beta counter for this type of measurement was done and all results are presented in the paper. The presented paper also provides a methodology for determining the measurement uncertainty for this type of measurement. Immediately after the administration of radiopharmaceuticals, the activity in the blood was different from 6.31% to 88.9% of the applied radioactivity, while 3 h after the termination of the application, the average value of radiopharmaceuticals in the blood was only 3.84%. The activity in the excreted urine depended on the time when the patients urinated after the therapy. It was measured that as much as 58% of the applied radioactivity was excreted in the first urine after the therapy in a patient who urinated 4.5 h after the completed application of the therapy. In most patients, the highest urine activity was in the first 10 h after the application, while the activities after that time were negligibly low. The described methodology of measuring and evaluating activity in blood and excreted urine can be applied to other radiopharmaceuticals used in nuclear medicine. It could be useful for researchers for dosimetric assessments in clinical application of PRRT.