Novel SNARE Complex Polymorphisms Associated with Multiple Sclerosis: Signs of Synaptopathy in Multiple Sclerosis

Background: It is well known that axonal degeneration plays a role in disability in patients with multiple sclerosis, and synaptopathy has recently become an important issue.Aims: To investigate the possible roles of selected synaptic and presynaptic membrane protein genetic polymorphisms (VAMP2, SNAP-25, synaptotagmin, and syntaxin 1A) in patients with multiple sclerosis.Study Design: Case-control study.Methods: A total of 123 patients with multiple sclerosis and 192 healthy controls were included. The functional polymorphisms of specific SNARE complex proteins (VAMP2, synaptotagmin XI, syntaxin 1A, and SNAP-25) were analyzed by polymerase chain reaction.Results: Significant differences were detected in the genotype and allele distribution of 26-bp Ins/Del polymorphisms of VAMP2 between patients with multiple sclerosis and control subjects; Del/Del genotype and Del allele of VAMP2 were more frequent in patients with multiple sclerosis (p=0.011 and p=0.004, respectively). Similarly, Ddel polymorphism of SNAP-25 gene C/C genotype (p=0.059), syntaxin 1A T/C and C/C genotypes (p=0.005), and synaptotagmin XI gene C allele (p=0.001) were observed more frequently in patients with multiple sclerosis. CC, syntaxin rs1569061 1A gene for 33-bp promoter region TC haplotypes, and synaptotagmin XI gene were found to be associated with an increased risk for multiple sclerosis (p=0.012). Similarly, GC haplotype for rs3746544 of SNAP-25 gene and rs1051312 of SNAP-25 gene were associated with an increased risk for multiple sclerosis (p=0.022).Conclusion: Genetic polymorphisms of SNARE complex proteins, which have critical roles in synaptic structure and communication, may play a role in the development of multiple sclerosis

ÇİFT TARAFLI SENSÖRİNÖRAL TİPTE HAFİF DERECELİ İŞİTME KAYIPLI VE TEK TARAFLI İŞİTME KAYIPLI YETİŞKİNLERDE SOSYAL YAŞAM KALİTESİNİN İNCELENMESİ

Araştırmanın amacı, çift taraflı sensörinöral tipte hafif dereceli işitme kayıplı ve tek taraflı işitme kayıplı yetişkinlerde sosyal yaşam kalitesinin incelenmesidir. Araştırmada betimsel araştırma yöntemlerinden ilişkisel tarama modeli kullanılmıştır. Araştırmanın evreni Darende Hulusi Efendi Devlet Hastanesi’nde KBB Polikliniğine başvuran veya konsülte edilen kişiler arasından Odyoloji testi için odyometri kliniğine gönderilmiş orada işitme testleri yapılmış hastalardır. araştırma 135 hasta üzerinden yürütülmüştür. Araştırma verilerinin toplanması amacıyla anket formu kullanılmıştır. Formun birinci bölümünde “Hasta Bilgi ve Anemnez Formu”, ikinci bölümünde “Dünya Sağlık Örgütü Yaşam Kalitesi Ölçeği Kısa Formu” ve “Beck Depresyon Ölçeği” bulunmaktadır. Araştırmadan sonucunda, işitme kaybı tek ve çift tarafta olan bireylerde yaşam kalitesi puanları düştükçe depresyon puanları artmaktadır. İşitme kaybının sağ veya sol kulakta olması ile depresyon düzeyi arasında anlamlı bir ilişki bulunmazken, işitme kaybı sağ kulakta olanların yaşam kalitesi düzeylerinin daha düşük olduğu belirlenmiştir. İşitme kaybının sağ ya da sol kulakta olması durumu ile yaş ve cinsiyet değişkenleri arasında bir ilişki bulunmamıştır. İşitme kaybı tipleri ile bireylerin depresyon düzeyleri bir ilişki bulunmazken, itik tip işitme kaybı ile yaşam kalitesi düzeyi arasında bir ilişki belirlenmiştir. Hafif derece işitme kaybı olanlarda fiziksel sağlık durumu, psikolojik sağlık ve sosyal ilişkiler, orta derecede işitme kaybı olanlarda fiziksel sağlık durumu ve psikolojik sağlık, ileri düzeyde işitme kaybı olanlarda ise fiziksel sağlık durumu arasında bir ilişki bulunmuştur. Bu sonuçlara göre işitme kaybı olan bireylerin yaşam kalitelerini yükseltmek amacıyla psikolojik destek verilmesi önerilmiştir

BOTTLENECK ANALYSIS OF ANATOLIAN BLACK CATTLE (BOS TAURUS) USING MICROSATELLITE MARKERS

The present study was conducted in order to reveal the genetic diversity andbottleneck in Anatolian Black Cattle (Bos Taurus). Animal material of the studyconsisted of 75 cattle raised in International Center for Livestock Research andTraining. The bottleneck in the cattle breed studied was checked with 10microsatellites markers, amplified in a multiplex polymerase chain reaction (PCR)were used according to recommendation of FAO (2011). A total of 116 alleles wasobserved from microsatellites studied. Overall value belongs to average number ofalleles (Na), effective number of alleles (Ne), observed heterozygosity (Ho),expected heterozygosity (He), the polymorphic information content (PIC), averageheterozygosity (Ĥ), and FIS, known as the inbreeding coefficient, were 11.60, 5.35,0.80, 0.78, 0.80 and 0.012, respectively. All microsatellite markers except INRA23and ETH3 deviated from Hardy Weinberg equilibrium (HWE). Bottleneck wasanalyzed with Bottleneck software according to three different mutation modelsincluding the infinite allele model (IAM), two-phase mutation model (TPM) andstepwise mutation model (SMM). It can be said that there is not any ultimate risk interms of bottleneck considering L–shaped curve showing normal distributionobtained from the analysis

Miyokardiyal İskemi Oluşturan ve Sol Ventrikülografiyi Taklit Eden Kalıcı Tebesian Venlerin Ciddi Formu

Koroner arter fistülü nadir bir konjenital anomalidir. Hastaların çoğu asemptomatik olmakla birlikte bazı hastalar semptomatik olabilmekte ve miyokardiyal iskemi, tromboz ve emboli, kalp yetmezliği ve aritmilerle gelebilmektedir. yazımızda efor dispnesi ve anginası bulunan ve miyokard perfüzyon sintigrafisinde geri dönüşlü inferior ve apikal defekt satanan 70 yaşında erkek sunulmuştur. Koroner anjiografide koroner darlık saptanmadı ancak sol ön inen arter, sirkümfleks arter ve sağ koroner arterden çoklu mikrofistüller aracılığıyla sol ventriküler kaviteye boşalan ve sol ventrikülografi görüntüsü oluşturan kapiller boyanma izlendi. Küçük mikrofistüllerden dolayı hastaya medikal tedavi verildi, beta bloker, aspirin ve ranolazin tedavisi ile taburcu edildi. Bir ay sonraki kontrolde hasta yakınmalarında azalma olduğunu belirtti

Variant Analysis of the Sirtuin (SIRT1) Gene in Multiple Sclerosis

Objective: Multiple sclerosis (MS) is an inflammatory demyelinating disease affecting the central nervous system. Although the exact pathogenesis of MS is unknown, it is generally considered to be an autoimmune disease, with numerous genetic and environmental factors determining disease susceptibility and severity. Sirtuin 1 (SIRT1) is a neuroprotective enzyme in MS patients. The aim of our study was to investigate the relationship between a genetic variant of SIRT1 and MS. Design: Controlled prospective study Setting: Department of Neurology, Bulent Ecevit University Medical Faculty, Zonguldak, Turkey Subjects and Methods: We determined SIRT1 genotypes by polymerase chain reaction (PCR) and confronting two-pair primers (CTPP) methods in 93 MS patients and 100 healthy controls Intervention: For genetic analysis, 5 ml of venous blood was drawn from each patient into tubes containing EDTA Main Outcome Measures: SIRT1 gene polymorphisms and recorded expanded disability status scale (EDSS) for MS patients Results: We found a significant difference between the rs2273773 polymorphism of the SIRT1 gene of MS and the control group (p = 0.011). We also found an association between MS disease and the haplotypes of rs7895833, rs7069102 and rs2273773 polymorphisms. Conclusion: We have shown that rs2273773 polymorphism of the SIRT1 gene might be a risk factor for MS disease in the Turkish population. Also, additional studies are needed to clarify the role of the SIRT1 gene in the pathogenesis of MS disease

Comparative study of the efficacy and tolerability of 4 weeks of terbinafine therapy with 8 weeks of griseofulvin therapy in children with tinea capitis

BACKGROUND: Ringworm of the scalp is a dermatophyte infection prevalent in pre-school and school-aged children. Tinea capitis is one of the few superficial fungal infections that does not adequately respond to topical treatment and requires 6-8 weeks of oral antifungal therapy. The aim of this double-blind study was to compare the efficacy and tolerability of terbinafine therapy with griseofulvin therapy in children with mycologically proven tinea capitis. METHODS: In a randomized, double-blind study, efficacy and tolerability of terbinafine given orally once daily for 4 weeks were compared with those of griseofulvin given orally once daily for 8 weeks. A total of 78 subjects were enrolled (39 in the terbinafine group, and 39 in the griseofulvin group). Among these, 7 subjects in the terbinafine group and 4 subjects in the griseofulvin group dropped out. The study included 67 subjects (32 in the terbinafine group and 35 in the griseofulvin group) and the mean age was 7.0 years (range 2-13 years) in the terbinafine group and 6.6 years (range 2-12 years) in the griseofulvin group. Clinical and mycological examination of hair samples were performed at the initial clinical assessment and after the 2nd, 4th, 6th, 8th and 12th weeks. Biochemical and haematological parameters were measured at the initial clinical assessment and after weeks 4, 8 and 12. RESULTS: At the final follow-up visit (week 12), a mycological cure was recorded in 88.0% of the terbinafine-treated group, compared with 91.0% of the griseofulvin-treated group. Effective treatment (complete disappearance of signs and symptoms and negative mycology, or not more than two signs or symptoms of mild erythema, desquamation or pruritus) was recorded in 78% of subjects in the terbinafine-treated group compared with 74% of subjects in the griseofulvin-treated group. Trichophyton species and Microsporum canis showed similar responsiveness to terbinafine treatment. CONCLUSION: Terbinafine given for 4 weeks was well tolerated and was as effective as griseofulvin used for 8 weeks in the treatment of tinea capitis in children

Sulama suyu dağıtımına çiftçi tepkileri: Menemen sol sahil sulama sistemi örneği

This study was carried out at the Menemen Left Bank Irrigation System for the irrigation season of 2001. In the study irrigation water resources, irrigation dates, irrigation numbers and irrigation times in a day were elicited. Farmer's response to water delivery and their worries and expectations for the future were determined. Farmers pointed out the operational and structural problems from the standpoints of equity, reliability and adequacy in water delivery. They demanded improved water delivery and maintenance services in the system, and measures against water deficiency and pollution. In conclusion, farmer opinions should also be taken into account for sustainable water management to improve the water delivery performance of the system.Bu çalışma, 2001 yılı sulama sezonunda, Menemen Sol Sahil Sulama Sisteminde yürütülmüştür. Çalışmada, sulama suyu kaynakları, sulama tarihleri, sayılan ve gün içindeki sulama zamanları saptanmış ve çiftçilerin su dağıtımına karşı tepkileri, geleceğe ilişkin kaygı ve beklentileri belirlenmiştir. Çiftçiler, su dağıtımında eşitlik, güvenilirlilik ve yeterlilik bakımından sistemdeki yönetsel ve yapısal sorunlara işaret etmişler, sistemde su dağıtım ve bakım hizmetlerinin iyileştirilmesi, su yetersizliği ve kirliliğine karşı önlem alınmasını istemişlerdir. Tüm bu sonuçlar, sisteminin su dağıtım performansını iyileştirecek sürdürülebilir bir su yönetimi için; çiftçi görüşlerinin de dikkate alınması gerektiğini ortaya koymaktadır