Dahili Tıp Bilimleri Bölümü

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The effect of coronary slow flow on ventricular repolarization parameters
(ELSEVIER, 2023) Günlü, Serhat; Karahan, Mehmet Zülkif; Aktan, Adem; Kılıç, Raif; Kılıç, Raif
Introduction: Ischemia due to microvascular dysfunction may be responsible for the heterogeneity of ventricular repolarization in coronary slow flow. To our knowledge, there is no study in which QT interval, Tp-Te interval, index of cardiac-electrophysiological balance (iCEB), and frontal QRS-T angle were evaluated together in patients with CSF. In this study, we examined for the first time the relationship between all these myocardial repolarization parameters and CSF. Materials and methods: The study group included 178 patients (99 female, mean age: 50.6 ± 8.6 years) with isolated CSF without stenotic lesions and with angiographically proven normal coronary arteries. The control group included 120 patients (71 female, mean age: 49.3 ± 9.4 years) with normal coronary angiography. QRS duration, QT interval, QTc interval, Tp-Te interval, Tp-Te/QT, Tp- Te/QTc, iCEB score, and frontal QRS-T angle were calculated from 12‑lead ECGs. Results: There was no significant difference in demographic parameters between the two groups. Compared with the control group, patients with CSF had significantly longer QTmax duration, QT dispersion, Tp-Te interval, and higher iCEB score, wider frontal QRS-T angle. Conclusion: In our study, we found that many of the ventricular repolarization parameters were adversely affected in patients with CSF. Impaired parameters may be associated with the risk of malignant ventricular arrhythmias.
Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study
(The Turkish Journal of Pediatrics, 2022) Toktaş, İzzettin; Özbek, Mehmet Nuri; Canpolat, Semih; Erdem, Özgür; Özbek, Mehmet Nuri
Background. Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified and treated early, severe intellectual disability and developmental delay occur. This study was conducted to calculate the ten-year incidence of PKU and BD in the Diyarbakır province of Turkey. Methods. This cross-sectional study included patients born between 2011-2020 and diagnosed with PKU and BD. Patients with a clear diagnosis had their records evaluated retrospectively. Results. Between 2011 and 2020, blood was taken from 417,525 newborns’ heels in Diyarbakir province. As a result of further diagnostic testing, 53 PKU (Incidence: 1:7878) and 177 BD (Incidence: 1:2359) were detected. Of the patients with BD, 56% had profound BD and 44% had partial BD. The records of a total of 269 patients (PKU: 25; BD: 123; Hyperphenylalaninemia: 121) were examined. Parents of 65% (n=15) of the patients diagnosed with PKU and 46.6% (n=55) of the patients diagnosed with BD were consanguineous. Conclusions. The incidence of both PKU and BD was found to be high in our region. The high number of consanguineous marriages was regarded as the most important explanation for the high frequency of these illnesses.
Our Treatment Experience in Poisoning With Calcium Channel Blockers: a Series of Twelve Cases
(Briefland, 2024) Talay, Mehmet Nur; Orhan, Ozhan; Ozbek, Mehmet Nuri; Kangin, Murat; Turanli, Ese Eda
Background: Intoxications with cardiovascular system drugs constitute a small percentage of all poisoning cases. Calcium Channel Blockers (CCBs) are the most common drug poisoning in this group. Objectives: We aimed to evaluate the effectiveness of treatments for CCB poisoning and add to the current body of literature by outlining the clinical treatments we employ for bradyarrhythmia, hypotension, and resistant vasodilation resulting from CCB poisoning, as well as sharing our clinical insights in this field. Methods: Twelve patients, ranging in age from 1 month to 18 years, were admitted to the Tertiary Paediatric Intensive Care Unit (PICU) for treatment of medication poisoning related to the CCB group. Patients who ingested several drugs that caused CCB were not allowed to participate in the trial. Results: Twelve patients were followed up in the PICU due to poisoning with CCB group drugs. Of the patients, 7 were male and 5 were female. Five of the patients had taken CCB medication with the purpose of committing suicide, and 7 of them accidentally. All of the patients who received CCB to commit suicide had taken verapamil. Five patients whose hypotension and bradycardia continued were administered inotropes. In addition to PI, calcium gluconate, intravenous lipid, glucagon, insulin, bicarbonate, and methylene blue were given as therapy to our symptomatic patients. Plasmapheresis was applied to a patient who was hospitalized in the PICU due to a sudden loss of consciousness. Conclusions: In the management of patients with CCB poisoning, the use of hyperinsulinemia euglycemia, intravenous lipid emulsion treatment, glucagon treatments, and treatments including methylene blue and extracorporeal life support should be considered in cases of resistant hypotension, bradycardia, and coma in the early period.
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
(Neuropediatrics, 2023) Özgün, Nezir; Günay , Çağatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hiz Kurul, Semra
Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. Results: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. Conclusion: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.
Thirteen-year surveillance results of acute flaccid paralysis cases in Southeast Turkey and the effect of refugee movements on surveillance results
(Natl inst Public Health, 2024) Özgün, Nezir; Ozgun, Nezir; Kubat, Gulnaz; Toktaş, İzzettin; Turan, Birgul; Ozgun, Mert; Toktas, Izzettin; Korukluoglu, Gulay
Objective: Acute flaccid paralysis (AFP) is a major neurological problem. Turkey has accepted over 4 million refugees since 2011 due to the wars in neighbouring countries. In the long term, refugees can have adverse effects on the limited resources of health, sanitation, water supply, foodstuff, and shelter services of host countries, precipitating the transmission and spread of enteroviruses causing AFP. This study examines the 13-year surveillance and incidence of AFP cases in southeast Turkey, and questions possible impact of refugee movements on these parameters, comparing the periods before (2007-2010) and after (2011-2019) 2011, when the refugee movements emerged. Methods: The records of cases reported from southeast part of Turkey with suspected AFP between January 2007 and December 2019 were reviewed retrospectively. Results: Of the patients, 121 (58.5%) were male. Mean age was 80.36 +/- 46.67 months. Eighty-five (41.1%) were aged 60 months or younger. The number of patients under 60 months increased significantly after 2011. Mean incidence was calculated as 0.88 cases/100,000 person years versus 1.58 cases/100,000 person years in the period before and after 2011, respectively. Guillain-Barr & eacute; syndrome (GBS) was the most common cause of AFP in both periods. As of 2011, however, the incidence of acute transverse myelitis increased approximately 4 times and GBS decreased proportionally. Non-polio enteroviruses were the most frequent isolates, detected from 9.1% of stool samples. Conclusion: Although refugee movements appear to may have adverse effects on AFP incidence and surveillance outcomes, larger studies involving the whole country, particularly at places where no refugees settled, are needed to achieve more conclusive evidence.

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