Filiz Özbaş Gerçeker

Obstructive sleep apnea (OSA) is a common breathing disorder characterized by repeated obstruction of the upper airway during sleep. Although polysomnography (PSG) is the widely used method for the diagnosis of OSA, it is a time-consuming and expensive method. Because it requires at least 1 night stay in the hospital and technical personnel are needed. Therefore, it has been focused on biomarkers that can be easily detected in blood for the diagnosis of OSA. Some studies have highlighted the relationship between OSA and cancer in humans, and HIF-1 is an important regulator in this process. KDM3A is a histone demethylase that increases hypoxic gene expression. We aimed to evaluate whether the expression levels of HIF-1α and KDM3A genes could be useful predictors in patients with OSA. Our study included 50 patients with OSA and 50 healthy controls. qRT-PCR was used to detect mRNA levels of HIF-1α, KDM3A, and epithelial-mesenchymal transition (EMT) genes in the leukocyte samples. The expression level of the HIF-1α gene was found significantly higher in the OSA group compared to the controls, and no statistically significant difference was detected in the expression levels of the KDM3A and EMT genes.

Background: Southeastern Anatolia is the smallest, yet the most densely populated region among the seven major geographic constituents of Turkey. Situated in the Upper Mesopotamia, Southeastern Anatolia was also the northernmost extension of the Fertile Crescent, which is often considered as the earliest cradle of civilisation. Aim: To investigate the autosomal STR polymorphisms associated with a truly representative population sample pool from Southeastern Anatolia. Subjects and methods: Samples from a total of 257 volunteers were analysed by 19-loci autosomal STRs using the commercially available COrDIS Plus Kit. Allele frequencies, statistical parameters of forensic interest and Nei’s D_A distances with respect to the nearby and distant populations were calculated, besides performing exact tests of population differentiation with the same populations. Results: A combined matching probability of 1.49978 × 10⁻²³ and a combined power of exclusion of 0.999999961 were obtained for the novel Southeastern Anatolian autosomal STR dataset. Furthermore, the Southeastern Anatolia population was found to have close genetic affinities with the other regional populations from Turkey, along with those from an apparent genetic continuum extending from the Near East to Southeastern Europe. Conclusions: The novel Southeastern Anatolian dataset is expected to be useful in regional forensic genetics investigations and molecular anthropology applications.

Bronchiectasis is characterized by permanent changes in the structure and function of the airways. Its cause cannot be identified in some cases. A genetic disease can predispose to bronchiectasis in our country, where consanguinity of parents is common. Transporter associated with antigen presentation (TAP) deficiency syndrome is characterized by recurrent bacterial lower respiratory tract infections, which cause bronchiectasis. Our aim was to document the relationship between idiopathic bronchiectasis and TAP gene polymorphisms. Forty‐four patients with idiopathic bronchiectasis and 100 healthy individuals as the control group were included. DNA was extracted and gene polymorphisms for TAP1 and TAP2 were studied. When compared to healthy controls, in the patient group, Ile/Ile genotype was decreased and Ile/Val genotype was increased in TAP1‐333 polymorphism analysis; Asp/Asp and Gly/Gly genotypes were decreased and Asp/Gly frequency was increased in TAP1‐637 polymorphism analysis; Ile/Val genotype was increased and Ile/Ile genotype was decreased in TAP2‐379 polymorphism analysis; and Thr/Thr genotype frequency was decreased and Thr/Ala and Ala/Ala genotypes were increased in TAP2‐665 polymorphism analysis. No statistically significant difference between patient and control groups was noted only in TAP2‐565 polymorphism analysis. These results indicate that TAP gene polymorphisms may have had a role in the development of bronchiectasis in our patient group. Therefore, TAP deficiency syndrome should be considered in children with idiopathic diagnosis, since early diagnosis of the disease will improve life quality and survival. Pediatr Pulmonol. 2007; 42:237–241.

Recent evidence supports a critical role of neurotrophins in the regulation of both neuronal survival and synaptic transmission during epileptogenesis. We have examined the immunohistochemical expression of high‐ (tyrosine kinase receptors, trk) and low‐affinity (p75) neurotrophin receptors (NTRs) in the hippocampal specimens from 18 patients with chronic temporal lobe epilepsy [TLE; 14 patients with hippocampal sclerosis (HS) and four with focal lesions (tumours) not involving the hippocampus proper]. Nonepileptic autopsy brains (n = 6) and surgical specimens from tumour patients without epilepsy (n = 3) were used as controls. Immunoreactivity (IR) for the trk receptors (trkA, trkB, trkC) was detected in normal human brain within the pyramidal neurones of hippocampal cornus ammoni (CA) regions and in the dentate gyrus. There were no detectable differences in the neuronal trk IR patterns in the hippocampus between control and TLE cases with HS, except for a decrease in neuronal density in regions where cell death had occurred (CA1, CA3 and CA4). In contrast, a consistent increase in trkA IR was observed in reactive astrocytes in CA1 and dentate gyrus. The low‐affinity p75 neurotrophin receptor (p75^NTR) was expressed in low levels in postnatal normal hippocampus. In contrast, neuronal p75^NTRIR was detected in 10/14 cases of HS in spared neurones within the CA and hilar regions of the hippocampus. Double labelling revealed that p75^NTR‐positive neurones also contain trk receptor IR. In six cases with prominent glial activation strong p75^NTRIR was observed in microglial cells within the sclerotic hippocampus. The present results indicate that changes in NTR expression are still detectable in the hippocampus of patients with chronic TLE and involve both glial and neuronal cells. Reactive astrocytes were immunoreactive for trkA, whereas activated microglia cells were reactive for p75^NTR, suggesting different functions for specific NTRs in the development of reactive gliosis. Moreover, the increased expression of p75^NTRin hippocampal neurones of TLE patients may critically influence the neuronal survival during the epileptogenic process.

Summary: Purpose:This study investigated the cellular distribution of different multidrug resistance (MDR)‐related proteins such as P‐glycoprotein (P‐gp), the multidrug resistance–associated proteins (MRP) 1 and 2, and the major vault protein (MVP) in normal and sclerotic hippocampus of patients with medically refractory mesial temporal lobe epilepsy (MTLE).Methods:Single‐ and double‐label immunocytochemistry was used on brain sections of control hippocampus and of hippocampus of refractory MTLE patients.Results:In TLE cases with hippocampal sclerosis (HS), all four MDR proteins examined that had low or no expression in control tissue were upregulated, albeit with different cellular distribution patterns. P‐gp immunoreactivity (IR) was observed in astrocytes in regions with diffuse reactive gliosis. In 75% of HS cases, strong P‐gp IR was detected in blood vessels, with prominent endothelial labeling. Reactive astrocytes displayed low MRP1 IR. However, glial MRP1 expression was noted in glial endfoot processes around blood vessels. Neuronal MRP1 expression was observed in hypertrophic hilar neurons and in a few residual neurons of the CA1 region. Hippocampal MRP2 expression was observed in the large majority of HS cases in blood vessels. Hypertrophic hilar neurons and blood vessels within the sclerotic hippocampus expressed major vault protein (MVP).Conclusions:These findings indicate that MDR proteins are upregulated in concert in the hippocampus of patients with refractory MTLE, supporting their role in the mechanisms underlying drug resistance. The specific cell‐distribution patterns within the sclerotic hippocampus suggest different cellular functions, not necessarily linked only to clinical drug resistance.