Ibrahim Etem Piskin

PD-1 gene polymorphism in children with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. Several factors influence the risk of chronic brain infection with the mutant measles virus. However, to date, no pathogenic mechanism that may predispose to SSPE has been determined. Studies have indicated that specific polymorphisms in certain host genes are probably involved in impairing the ability of host immune cells to eradicate the measles virus in SSPE patients. Programmed cell death protein 1 (PD-1), a member of the CD28 family, is a negative regulator of the immune system. The purpose of our study was to investigate whether PD-1 gene polymorphisms affect susceptibility to the development of SSPE in Turkish children. In total, 109 subjects (54 SSPE patients and 55 healthy controls) were genotyped for the PD-1.9 C/T (rs2227982) single-nucleotide polymorphism (SNP). The distributions of T alleles in the PD-1.9 polymorphism in SSPE patients and healthy controls were 2.8 and 10.9%, respectively. There was a statistically significant difference between the groups; the 95% confidence interval (CI) was 0.06 to 0.85 and the odds ratio (OR) was 0.23 (χ(2) test). Thus, we identified an association between SSPE and the PD-1 rs2227982 gene polymorphism; the frequency of T alleles was higher in controls than in SSPE patients.

Association of interleukin 18, interleukin 2, and tumor necrosis factor polymorphisms with subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a progressive inflammatory and degenerative disorder of the central nervous system. The measles virus (MV) and host and environmental factors are involved in the development of SSPE, but the precise mechanism by which the MV causes SSPE is still unknown. Studies have indicated that in SSPE patients, specific polymorphisms of certain genes are most likely involved in impairing the hosts ability to eradicate the MV. The purpose of our study was to elucidate the role of polymorphisms in the genes encoding interleukin (IL)-2, IL-18, and tumor necrosis factor alpha (TNF-α) in the development of SSPE. Using the polymerase chain reaction with sequence-specific primers, the single-nucleotide polymorphisms (SNPs) of the promoter regions of IL-2 (-330), TNF-α (-308), and IL-18 (-137 and -607) were studied in 54 patients with SSPE and 72 healthy controls. The frequency of SSPE patients with the AA genotype of IL-18 at position -607 was significantly higher than the frequency of those with the CC genotype (p<0.001, odds ratio [OR]: 5.76), and a significantly higher proportion of patients had the C allele at -137 compared with the controls (p=0.002, OR: 2.72). In a haplotype analysis of two SNPs in the IL-18 gene, the frequency of the CA haplotype was significantly higher in SSPE patients (p<0.001, OR: 3.99) than in the controls. The IL-2 (-330) and TNF-α (-308) polymorphisms revealed no significant differences. In conclusion, these data suggest that the IL-18 gene polymorphisms at position -607 and -137 might be genetic risk factors for the SSPE disease.

May TLR4 Asp299Gly and IL17 His161Arg polymorphism be associated with progression of primary measles infection to subacute sclerosing panencephalitis

SSPE is a progressive neurological disorder of children. Only some of the children who are infected with measles virus develop SSPE, which supports individual variation. TLR-2 and TLR-4 play an important role in innate immunity by recognizing envelope proteins of MV. Another important cytokine that plays an important role in orchestrating innate immune function is IL-17. The purpose of our study is to elucidate whether the TLR2, TLR4, IL17F and IL17A gene polymorphisms are susceptibility genes for the development of SSPE. Using the PCR-RFLP methods, the single nucleotide polymorphisms of TLR2 (Arg753Gln, Arg677Trp, -194 to -174 del), TLR4 (Asp299Gly and Thr399Ile) IL17F (His161Arg, Glu126Gly) and IL17A were studied in 54 patients with SSPE and 81 healthy controls. For Asp299Gly polymorphism of the TLR4 gene we found that there were no control individuals who were homozygous carriers of the Gly/Gly genotype, and the risk for SSPE increased at approximately 4.7 fold for the heterozygous carriers of the Asp/Gly genotype (OR 4.727, 95%-CI 1.192-18.742; P=0.01), when compared to healthy controls. Also our findings demonstrate that homozygosity for the Arg161 variant of the IL17F His161Arg polymorphism is inversely associated with development of SSPE (OR 0.114 95%-CI 0.026-0.494; P<0.001). In conclusion, it is suggested that variation in susceptibility to SSPE disease may be in part due to variations in TLR4 and IL17 function resulting from polymorphisms of TLR4 Asp299Gly and IL17F His161Arg.

Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings

We report a new-born girl with partial trisomy of 4q28-qter and partial monosomy of 9p24-9ter. Our patient has choanal atresia, hypertelorism, wide nasal bridge, high arched palate, discrete nipples, heart defects, myoclonic seizures and various dysmorphic findings. Standard chromosomal analysis with G-banding with Trypsin-Giemsa revealed 46,XX,der(9)t(4;9)(q28;p24) resulting from the mothers t(4,9) (q28;p24) karyotype. Deletions of the terminal part of 9p and partial trisomy of chromosome 4q are rare chromosomal alterations. To our knowledge, this is the first report of choanal atresia in a patient with a partial trisomy of 4q28-qter and partial monosomy 9p24-9ter combination, which were detected by integrated cytogenetic and genomic analysis.

Assessment of the Clinical and Radiological Findings of Cases with Subacute Sclerosing Panencephalitis

1 Mustafa Çalık1, Mahmut Abuhandan2, İbrahim Etem Pişkin3, Ekrem Karakaş4, Nurefşan Boyacı4, Akın İşcan5 1Harran Üniversitesi, Tıp Fakültesi, Çocuk Nörolojisi Bilim Dalı, Şanlıurfa, 2Harran Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Şanlıurfa, 3Bülent Ecevit Üniversitesi, Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Zonguldak, 4Harran Üniversitesi, Tıp Fakültesi, Radyoloji Anabilim Dalı, Şanlıurfa, 5Bezmialem Vakıf Üniversitesi, Tıp Fakültesi, Çocuk Nörolojisi Bilim Dalı, İstanbul, Türkiye SSPE’ li Hastalarımızın Değerlendirilmesi / Assessment of Cases with SSPE Assessment of the Clinical and Radiological Findings of Cases with Subacute Sclerosing Panencephalitis

Sitomegalovirüs enfeksiyonunu takiben gelişen Guillaine-Barre sendromunda ense sertliği

Hemangiomas are the most common tumors of infancy. Most of them require no treatment, but treatment is needed if dramatic aesthetic, and/or functional impairment as visual or airway obstruction or ulceration arises. We reported a 6-month-old infant presented with a 6-week history of a rapidly growing cutaneus hemangioma on the right eyelid and caused visual impairment. The patient was successfully treated with the use of oral propranolol therapy. We suggest that propranolol can be considered as a first line treatment in a patient with infantil hemangioma.Objectives: The aim of this study was to examine levator palpebralis superior muscle histologically in patients with congenital blepharoptosis and to investigate the relationship between these findings and age, sex and degree of blefaroptosis in this patient group. Materials and methods: Levator muscle of 13 patients with congenital ptosis, who had applied to Dicle University Medical Faculty Ophthalmology Clinic and had undergone levator palpebralis superior muscle resection between january 2009-january 2010, has been examined histopathologically in Histology and Embriology Deparment. During preoperative period, ptosis amount, levator function (LF), tear functions, Bell\s phenomenon and jaw-winking phenomenon were evaluated. All patients underwent resection of levator palpebralis superior muscle. Received postoperative levator muscle was examined by light microscopy. Results: The average age of 9 (69.2%) male and 4 (30.8%) female cases were 10.61 p 4.77 (4- 19) years. In histological examination, the quality and quantity of the levator muscle fibrils have been assessed. There was no relationship detected between histological features of levator palpebralis superior muscle and patient\s age and gender (p>0.05). Patients with weak levator palpebralis superior muscle were detected to have fatty degeneration histologically. The higher the levator palpebralis superior muscle function revealed decreased fatty degeneration and increased skeletal muscle fibrils. Conclusion: More ultrastructural studies in larger populations are needed to support the relationship between structure and function of levator palpebralis superior muscle in patients with congenital blepharoptosis.Amac: Lateral epikondilit (tenisci dirsegi) en fazla tani konulan dirsek yan agri nedenidir. Bu calismanin amaci tenisci dirsegi tedavisinde tek doz kortikosteroid enjeksiyonu ile otolog trombositten zengin plazma (TZP) enjeksiyonunun etkilerini karsilastirmaktir. Gerec ve yontem: Dirsek yan kisminda agri sikâyeti sonucu klinigimize muracaat edip, lateral epikondilit tanisi konan 15 hastanin (6 erkek ve 9 kadin) 15 dirsegi calisma kapsamina alindi. Olgularin 1. grubuna tek doz 0,5 ml Bethametasone ve 0.5 ml Prilokain karisimi, 2. grup olgulara 1ml otolog TZP lokal olarak uygulandi. Bulgular: Verhaar skorlama sistemine gore alinan sonuclara gore ilk takiplerde lokal steroid enjeksiyonu yapilan hasta grubunda sonuclarin daha iyi oldugu fakat sonraki takiplerde iyi sonuclarin goruldugu vaka sayisinda azalma oldugu goruldu. TZP grubunda ise ilk takiplerde sonuclarin kotu oldugu fakat sonraki takiplerde daha iyi sonuclarin alindigi goruldu. Sonuc: Otolog TZP enjeksiyonun lateral epikondilitte iyi yonde etkinliginin zamanla artigi soylenebilir, fakat bunun daha iyi anlasilmasi icin olgu sayisi ve takip suresi artirilmis yeni calismalarin yapilmasi gereklidir.