Determination of airborne fungal spores of Gaziantep (SE Turkey)

The aim of this study was to present the first airborne fungal spore research results of SE of Turkey. The presence and abundance of fungal spores were investigated with a Hirst-type volumetric spore trap (Lanzoni, VPSS 2000) for 2 years between the periods January 2010 and December 2011. A total of 211,521 spores and 47 fungal taxa belonging to Anamorphic Fungi, Phyla Ascomycota and Basidiomycota were recorded. Aspergillus/Penicillium spores type, unidentified spores, spores of Myxomycota and hyphal fragments were also recorded as groups. The relationship between fungal spore counts and several meteorological parameters was examined. Cladosporium was determined as the predominant genus (56.48 %); hyphal fragments (14.94 %), Ustilago (13.96 %) and Alternaria (5.79 %) were revealed as the common fungal aerosols of Gaziantep atmosphere. With this study, the first aeromycological survey of SE of Turkey has been conducted and new information on the field of aerobiology in Turkey has been introduced.     

A mutation screen in patients with Kabuki syndrome

Kabuki syndrome (KS) is one of the classical, clinically well-known multiple anomalies/mental retardation syndromes, mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay, short stature, persistent fingerpads, and urogenital tract anomalies. In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. We identified 18 distinct mutations in 19 patients, 11 of 12 tested de novo. Mutations were located all over the gene and included three nonsense mutations, two splice-site mutations, six small deletions or insertions, and seven missense mutations. We compared frequencies of clinical symptoms in MLL2 mutation carriers versus non-carriers. MLL2 mutation carriers significantly more often presented with short stature and renal anomalies (p?=?0.026 and 0.031, respectively), and in addition, MLL2 carriers obviously showed more frequently a typical facial gestalt (17/19) compared with non-carriers (9/15), although this result was not statistically significant (p?=?0.1). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e.g. MLL, ASC2, ASH2L, and WDR5), but no convincing causative mutations could be found. Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity.     

Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population

Objective

Methylene-tetrahydrofolate reductase (MTHFR) is a key enzyme regulating folate metabolism and it is thought to influence DNA methylation and nucleic acid synthesis. Mutations in the MTHFR gene have been associated with several autoimmune disorders in previous studies. Alopecia areata (AA) is considered to be a tissue-specific autoimmune disease as the hair follicle has been targeted and antibodies to their own hair follicle structures have been developed. Since there is a common shared pathway between AA and other autoimmune disorders, we aimed to investigate a possible association between the MTHFR gene C677T mutation and AA susceptibility in the Turkish population.

Methods

The study included 136 patients affected by AA and 130 healthy controls. Genomic DNA was isolated and genotyped using a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MTHFR gene C677T mutation.

Results

The distributions of genotype and allele frequencies of MTHFR gene C677T mutation were statistically different between AA patients and the control group (p = 0.036 and p = 0.011, respectively). High differences were also observed when the patients and controls were compared according to CC versus CT + TT (p = 0.012). CT + TT genotypes and T allele of MTHFR gene C677T mutation were found to be a susceptibility factor for AA in the Turkish population.

Conclusion

The results suggest that MTHFR gene C677T mutation may have an effect on the risk of alopecia areata in the Turkish population. This is the first study reporting the association between the MTHFR (C677T) genotype and AA.     

Common MEFV gene mutations in Turkish patients with Behcet's disease

Behcet's disease (BD) is a chronic systemic inflammatory disorder whose etiology has not been fully established yet. The MEditerranean FeVer (MEFV) gene has been identified as the cause of Familial Mediterranean Fever (FMF). BD shows similarities with FMF, in terms of clinical findings and treatments, as well as their geographical and ethnic co-occurrence. In this study we investigated common MEFV gene mutation frequencies in Turkish patients with BD in an area of Turkey where both diseases are frequently encountered. We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features. Seventy-five patients were found to carry a single MEFV mutation, and six patients were compound heterozygous. The difference in the frequency of the MEFV mutation between the BD and control groups was statistically significant (p < 0.001, odds ratio [OR] 2.74, 95% confidence interval [CI] 1.75–4.29). The frequencies of E148Q and M680I mutations were significantly higher in the BD group (p = 0.001, p = 0.046, respectively). The frequency of uveitis was significantly lower in patients with the mutation than in patients without the mutation (p = 0.029, OR 0.54, 95% CI 0.30–0.98). There was no statistical significance between carriers and non-carriers with respect to gender and other manifestations of BD. The frequency of the MEFV mutation was significantly higher in patients with BD compared to the healthy control group. Based on our results, MEFV mutations appear to have a role in the pathogenesis of BD.     

House dust mite fauna in western Anatolia, Turkey

House dust mites play an important role in the pathogenesis of allergic diseases. Many factors may influence mite growth. The presence of mites is related to mean temperature and humidity as well as altitude. The aim of this study was to analyze the mite fauna in 5 regions of western Anatolia, Turkey, that have similar climatic properties with low mean temperature and humidity, but differ in altitude. During the period October-November 2004, house dust was collected from 290 homes in 5 different cities. House dust mites were isolated in 67 (23.1%) of 290 samples. The family Pyroglyphidae (Astigmata) was present in all positive samples. This study suggests that the selected western Anatolian regions that share similar environmental conditions host similar dust mite populations.     

The importance of association between angiotensin-converting enzyme (ACE) Gene I/D polymorphism and diabetic peripheral neuropathy

Background

Diabetic peripheral neuropathy (DPN) is a microvascular complication of diabetes mellitus (DM) due to decreasing quality of life. In the present study, it is aimed to evaluate angiotensin-converting enzyme (ACE) Gene I/D polymorphism in Turkish population.

Materials and methods

Two hundred and thirty-five DPN patients and two hundred and eighty-one controls were enrolled in this study. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) analyses for the ACE gene I/D polymorphism.

Results

Baseline characteristics of the DPN patients according to ACE genotypes were similar, except for history of hypertension. The frequency of II genotype was significantly higher in patients with positive history of hypertension than the patients with negative history of hypertension (p = 0.013). DD genotype of I/D polymorphism was found to be a susceptibility factor for DPN in homozygous form (p = 0.032). According to allele frequencies, D allele of I/D polymorphism was found to be a susceptibility factor for DPN (p = 0.031).

Conclusion

ACE gene I/D polymorphism may research in DM patients to determine genetic predisposition for DPN. It can be useful for taking early measures and avoiding DPN in a Turkish population.     

Bee visitors of <Emphasis Type="Italic">Centaurea solstitialis</Emphasis> L. (Asteraceae) in an urban environment in northwestern Turkey

Information on the pollination ecology and floral visitors of the noxious weed Centaurea solstitialis is available for several populations in its invasive range, but limited information is available in its native range, with most studies conducted on the Greek island of Lesvos. Herein, we document the visitation pattern of bees and explore the relationship of bee body size and nectar availability in weedy populations of C. solstitialis from an urban environment within its native range in northwestern Turkey. Studies were conducted at patches of C. solstitialis in abandoned lots at the Uluda? University near the city of Bursa. A total of 41 species, including honey bees, belonging to five families and 19 genera were recorded. Small megachilid and halictid bee species were the most common visitors. Average nectar standing crop volume per floret was low (0.003–0.117 μL) and did not significantly vary throughout the day. Average bee head width significantly correlated with average nectar standing crop volume but did not significantly change throughout the day. Analyses of pollen loads as well as direct observations of bee foraging behavior indicate that a large number of bees visit C. solstitialis, primarily in search of nectar while carrying a large percentage of pollen grains of this plant species on their bodies. These results are similar to previous observations on a non-weedy population of C. solstitialis from the island of Lesvos.