Wos Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10754
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Item MLPA Method does not Always Confirm the Results of aCGH: A Study of KANSL1 Gene Deletion Patients(2022) Dincer, Selin Akad; Celik, Zerrin Yilmaz; Erol, Ilknur; Sahin, Feride Iffet; AAC-8356-2020Background: Microdeletion and microduplications are detected on chromosomes as a pathological subgroup of copy number variants of DNA. It has become easierto identify such chromosomal syndromes after use of array-based comparative genomic hybridization technology. One of them is the 17q21.31 microdeletion and microduplication syndrome. A 500-650 kb sized copy loss on 17q21.31 results in a phenotype which was described as Koolen-de Vries Syndrome including mental retardation, epilepsia, hypotonia and characteristic facial features. Today, we know that haplo-insufficiency of KANSL1 gene located in this region is responsible for these findings. A total of 30 patients with KANSL1 deletion detected during aCGH analyses were enrolled in the current study. All patients were analyzed by Multiplex Ligation-Dependent Probe Amplication (MLPA) method in order to confirm the results. Results: Three of the 30 patients had KANSL1 gene deletion detected by both methods and duplication was found in one patient. Conclusion: As a result of the study, we concluded that although new generation molecular methods enable us to obtain big and valuable data, each method has its own limitations and confirming the reults with another method increases test reliability. Using together of these methods are useful for the geneticists during diagnosis, clinical assessment and genetic counseling of patients.Item Plasma Exchange in the Treatment of A Child with West Nile Virus Encephalitis: A Case Report(2022) Ozkale, Yasemin; Ozkale, Murat; Ceylan, Ozgur; Erol, IlknurBackground: West Nile virus (WNV) is a member of the Japanese encephalitis antigenic complex of the family Flaviviridae that can cause a wide range of clinical symptoms, from asymptomatic disease to severe meningitis, encephalitis flaccid paralysis, and death. In immunocompetent children, WNV infection is usually benign and self-limiting. However, this virus is also associated with severe neurological disease in some patients, especially those who are older, have a chronic disease, have undergone organ transplantation, or are immunocompromised. Case Report: A 12-year-old boy with selective immunoglobulin A-deficiency (SIgAD) and refractory seizures due to WNV encephalitis (WNE) was successfully treated with therapeutic plasma exchange (TPE) in conjunction with other immunomodulatory therapies. Conclusion: WNV can progress like autoimmune encephalitis. TPE appears to be safe and effective for treating children with WNE. To our knowledge, this report is the first of a child with WNV infection and SIgAD.Item Tuberous sclerosis complex; a single center experience(2015) Erol, Ilknur; Savas, Tulin; Sekerci, Sevda; Yazici, Nalan; Erbay, Ayse; Demir, Senay; Saygi, Semra; Alkan, Ozlem; 26078697Aim: This study was planned with the aim of retrospectively reviewing the clinical and laboratory findings and therapies of our patients diagnosed with tuberous sclerosis and redefining the patients according to the diagnostic criteria revised by the 2012 International Tuberous Sclerosis Complex Consensus Group and comparing them with the literature. Material and Methods: 20 patients diagnosed with tuberous sclerosis complex in the Pediatric Neurology Clinic were examined retrospectively in terms of clinical findings and therapies. The diagnoses were compared again according to 1998 and 2012 criteria. Results: It was observed that the complaint at presentation was seizure in 17 of 20 patients and hypopigmented spots on the skin in 3 of 20 patients. On the initial physical examination, imaging findings related with the disease were found in the skin in 17 of the patients, in the eye in 5, in the kidneys in 7 and in the brain in 17. No cardiac involvement was observed in the patients. Infantile spasm was observed in 7 of the patients who presented because of seizure (n=17), partial seizure was observed in 7 and multiple seizure types were observed in 3. It was found that sirolimus treatment was given to 9 of 20 patients because of different reasons, 7 of these 9 patients had epileptic seizures and sirolimus treatment had no effect on epileptic seizures. According to 2012 diagnostic criteria, no marked change occured in the diagnoses of our patients. Conclusions: It was observed that the signs and symptoms of our patients were compatible with the literature. Molecular genetic examination was planned for the patients who were being followed up because of possible tuberous sclerosis complex. It was observed that sirolimus treatment had no marked effect on the seizure frequency of our patients.Item The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey(2015) Erol, Ilknur; 25296579Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies.Item 22q13.3 Deletion Syndrome: An Underdiagnosed Cause of Mental Retardation(2015) Erol, Ilknur; Onay, Ozge Surmeli; Yilmaz, Zerrin; Ozer, Ozge; Alehan, Fusun; Sahin, Feride IffetPhelan-McDermid syndrome, also known as 22q13.3 deletion syndrome, is characterized by global developmental delay, absent or delayed speech, generalized hypotonia, and minor physical anomalies. The deletion typically involves the terminal band 22q13.3 and has been associated with both familial and de-novo translocations. We report the case of an 11-year-old Turkish girl with 22q13.3 deletion syndrome presenting with repeated seizures during the course of a rubella infection. We also review the clinical features of 22q13.3 deletion syndrome and emphasize the importance of considering a rare microdeletion syndrome for idiopathic mental retardation when results of a routine karyotype analysis are normal. To the best of our knowledge, this is the first reported case of a Turkish patient with isolated 22q13.3 deletion syndrome.Item Narcolepsy and cataplexy: a pediatric case report(2016) Erol, Ilknur; Savas, Tulin; Saygi, Semra; Habesoglu, Mehmet Ali; 0000-0002-3530-0463; 0000-0002-8522-5078; 0000-0001-9136-355X; 28123336; AAK-4825-2021; Q-2338-2019; AAB-1203-2021Narcolepsy is characterized by excessive sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis during the rapid eye movement period of sleep. Herein, we present a boy aged eight years who was diagnosed as having narcolepsy and cataplexy about thirteen months after his first presentation. He was admitted with symptoms of daytime sleepiness. In the follow-up, cataplexy in the form of head dropping attacks developed seven months after the first admission. The patient was investigated for different prediagnoses and was eventually diagnosed as having narcolepsy and cataplexy through polysomnography and multiple sleep latency tests thirteen months after the first presentation. He is being followed up and is under drug therapy; his symptoms have improved substantially.Item Association between platelet indices and febrile seizures in children(2016) Ozkale, Murat; Erol, Ilknur; Ozkale, Yasemin; Sariturk, Cagla; 0000-0002-3530-0463; 0000-0003-0625-1057; 0000-0003-3009-336X; AAK-4825-2021; AAS-7129-2021; A-7806-2016; AAL-6136-2021Purpose: Febrile seizures (FS) are the most common type of seizures in children. The aim of this study was to evaluate the relationship between platelet indices and FS in children. Materials and Methods: This prospective study included 40 children who presented with FS and 30 controls who presented with febrile illnesses without seizures. Complete blood counts, including platelet count (PC), mean platelet volume (MPV), and platelet distribution width (PDW) from both groups within 1 hour of FS and 1 month later were obtained. Results: We found that the MPV and PDW within 1 hour of seizure in children with complex FS group was higher than simple FS group while there was no significant difference in MPV and PDW between patients in the simple and complex FS groups at 1 month. The mean PC was not significantly different between simple and complex FS groups; but, we found that the mean PC in the complex FS group was slightly lower than simple FS group. There was a moderate significant positive correlation between MPV and PDW in children with FS while there was a moderate significant negative correlation between PC and MPV, PDW for FS. Conclusion: Our findings suggest that the increasing platelet turnover in complex FS group causes a slightly decrease in the PC, an significantly increase of MPV and PDW values indicating that these parameters may play an important role in predicting the severity of FS in children at diagnosis.Item Endovascular Treatment of a Patient with Moyamoya Disease and Seckel Syndrome: A Case Report(2018) Andic, Cagatay; Gunesli, Aylin; Alkan, Ozlem; Erol, Ilknur; Suner, Halil Ibrahim; 30090148Seckel syndrome and Moyamoya diseases are different entities that rarely associated with each other. Several cases presenting with both these diseases were reported. Intracerebral artery aneurysms and collateral vessels can be seen with Moyamoya. They are commonly treated with medical treatment. We present a 12-years old patient with both Seckel syndrome and Moyamoya disease presented with middle cerebral artery aneurysm which was treated with endovascular modalities.Item Serum Magnesium and Calcium Levels in Children With Breath-holding Spells(2018) Ozkale, Yasemin; Erol, Ilknur; Ozkale, MuratObjective: Although breath-holding spells (BHS) are the most common form of non epileptic paroxysmal events in infancy, the pathophysiology of these events remain unknown. Several studies have indicated that multiple factors can be involved in the pathogenesis of BHS. The aim of this study was to assess the associations between BHS and serum magnesium and calcium levels. Materials and Methods: This prospective, case-control study enrolled 79 consecutive children with BHS and 114 healthy children, who were included as controls, without any illness between October 2012 and January 2014. Mean hemoglobin (Hb), mean corpuscular volume, serum iron, serum iron binding protein, magnesium(Mg), calcium(Ca), phosphorus (P), and alkaline phosphatase levels and Ca/Mg ratiowere compared between the two groups. Results: Overall, the Hb, Ca, and P levels were in the normal range in both groups; however, the mean Hb, Ca, and P levels were significantly lower in the BHS group than in the control group. Furthermore, there was no significant difference in the mean serum Mg level or Ca/Mg ratio between the groups. Conclusion: Therefore, low Hb, Ca, and P levels may decrease the threshold of BHS and thus constitute a risk factor for the development of BHS.