Alström Syndrome is a clinically complex disorder characterized by childhood retinal degeneration leading to blindness, sensorineural hearing loss, obesity, type 2 diabetes mellitus, cardiomyopathy, systemic fibrosis, and pulmonary, hepatic, and renal failure. Alström Syndrome is caused by recessively inherited mutations in the ALMS1 gene, which codes for a putative ciliary protein. Alström Syndrome is characterized by extensive allelic heterogeneity, however founder effects have been observed in some populations. To date, more than 100 causative ALMS1 mutations have been identified, mostly frameshift and nonsense alterations resulting in termination signals in ALMS1. Here we report a complex Turkish kindred in which sequence analysis uncovered an insertion of a novel 333 basepair Alu Ya5 SINE retrotransposon in the ALMS1 coding sequence, a previously unrecognized mechanism underlying mutations causing Alström Syndrome. It is extraordinarily rare to encounter the insertion of an Alu retrotransposon in the coding sequence of a gene. The high frequency of the mutant ALMS1 allele in this isolated population suggests that this recent retrotransposition event spread quickly, and may be used as a model to study the population dynamics of deleterious alleles in isolated communities.

Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype-phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively.Clinical evaluations suggest that the spectrum of symptoms observed in the patients with very early and early disease were of the more nonspecific form, whereas the patients with late-presenting disease had more of the distinctive form over the course of the disease. This study adds support to the notion that the D233V mutation is specific to the Turkish population.

In the studies carried out by us, IC50 value of water was determined by using mesenchymal stem cells and endothelial cell lines in in vitro cultures and positive and negative effect doses on the cells were determined. Depending on the results obtained, the effects on the whole organism, if necessary, can be examined in vivo on subjects. For this purpose, young wistar rats are divided into experimental groups (experimental and control) and their water needs are met with water samples obtained from the study area for 3 to 6 months. Blood and urine samples were taken from the subjects in each group at certain time points and the changes were recorded by analyzing the routine biochemistry and hemogram. In addition, the subjects in the sampling are sacrificed at monthly intervals and general examination of endogenous tissues are performed and liver, kidney and heart tissue samples are taken for histological and chemical analyzes. Some of the tissue samples are homogenized using a microwave and changes in elemental content are determined by ICP_OES. The other part is fixed in 10% formaldehyde and then 5 µm thin sections are examined histopathologically according to freeze sectioning method. These studies showed that although the known methods used in water analysis are very valuable, the water quality study carried out by cytotoxic analysis method provides reliability in terms of observing the direct effects of water quality on living tissue. In the present study, in vitro cytotoxicity studies for water samples taken from İncesu Basin are given as examples because of their striking results. Based on the obtained results, it is suggested that in vitro cytotoxicity tests should be added to routine water quality analyzes.

Foreign body aspiration in children is a common cause of respiratory distress between the ages of 6 months and 3 years, with respiratory symptoms such as wheeze and cough after a choking episode. We report a case of toy bow inhaled as foreign body in a seven years old boy. Despite the clinical signs of aspiration may be ambiguous in this case is presented to emphasize. ÖZETYabancı cisim aspirasyonu özellikle 6 ay ile 3 yaş arasındaki çocuk-larda sık görülen bir solunum sıkıntısı nedenidir. Sıklıkla boğulma epizodunu takiben gelişen öksürük ve hışıltı atağı ile kendini gösterir. Oyuncak yayı aspire etmiş yedi yaşında bir erkek hasta sunulmuştur. Bu olgu sunumunda aspirasyona rağmen klinik bulgularının belirsiz olabileceğini vurgulamak amaçlanmıştır.Anahtar Sözcükler: Yabancı cisim, trakeobronşiyal, çocuk.

Bu çalışma, Sinop ili Erfelek ilçesinde bulunan Gümüşsuyu Göleti‘nin su kalitesi ve kirliliğini belirlemek amacıyla yapılmıştır. Bu amaçla, su kalitesini belirlemede kullanılan fiziksel ve kimyasal su parametreleri, Nisan 2018 – Mart 2019 tarihleri arasında aylık olarak alınan su örneklerinden ölçülmüştür. Bu ölçümler, Gümüşsuyu Göleti‘nin bütününü temsil eden dört istasyon için yapılmıştır. İstasyonlar, Gümüşsuyu Göleti‘nin doğusu, kuzeybatısı (en derin yeri), güneyi ve batısı olarak seçilmiştir. Çalışma süresince, belirlenen bu dört istasyondan ayda bir su numuneleri alınmış ve elde edilen on iki aylık ortalama değerler (genel ortalama, standart sapma, mevsimsel ortalama) incelenmiştir. Bu dört istasyondan alınan su örneklerinde su kalitesini belirlemek amacıyla çözünmüş oksijen (mg/L), pH, sıcaklık (oC), tuzluluk (ppt), demir (µg/L), kurşun (µg/L), bakır (µg/L), kadmiyum (µg/L), civa (µg/L), nikel (µg/L), ve çinko (µg/L) parametrelerinin analizleri yapılmıştır. Çalışmada, ölçülen su kalitesi parametrelerinin yıllık ortalama değerlerinin istatistiksel verileri mevsimsel olarak da karşılaştırılmıştır. Sonuç olarak Gümüşsuyu Göleti‘nin, Yüzey Suları Su Kalitesi Yönetim Yönetmeliği‘ne göre II. sınıf su kalitesine sahip olduğu tespit edilmiştir. Ayrıca, gölette herhangi bir kirlilik problemi olmadığı belirlenmiştir. Ancak, gölet suyu çok sert sular sınıfına girmekle birlikte, yetiştiricilik açısından bu durumun bir sakıncası bulunmamaktadır. Tüm sonuçlar değerlendirildiğinde göletin, alabalık gibi soğuk su türlerinin yetiştiriciliği için uygun olabileceği önerilmektedir.