63 research outputs found

    SİSMİK HIZLARDAN TAŞIMA GÜCÜNÜN İNCELENMESİ

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    Bu çalışmanın amacı klasik taşıma gücü ile sismik hızlardan hesaplanan taşıma gücünü karşılaştırmaktır. Araştırmacıların en son ürettikleri ve tavsiye ettikleri taşıma gücü bağıntıları kendi aralarında karşılaştırılmıştır. Bu karşılaştırma pomza ve kil türü zeminlerde uygulanmıştır. Ancak pomza türü zeminlerin taşıma gücü kohezyon ve içsel sürtünme belirlenemediğinden klasik yöntemle hesaplanamamıştır. Karşılaştırılan taşıma gücü ve güvenli taşıma gücü bağıntılarının sismik hızlara göre değişimleri, yoğunluk, güvenlik katsayısı ve temel faktörü bakımından da kıyaslanarak incelenmiştir. Buna ek olarak incelenen statik taşıma gücü bağıntısı ve dinamik olarak adlandırılan sismik hızlardan taşıma gücü bağıntılarının depreme dayanıklı yapılaşma için yeterliliği tartışılmıştır

    SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

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    Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjögren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjögren syndrome triad (ataxia, cataracts, myopathy) whereas the detection rate in the group of patients with more variable phenotypic presentation was below 3% (1/37). We report 16 unrelated families with a total of 19 different SIL1 mutations. Among these mutations are 15 previously unreported changes, including single- and multi-exon deletions. Based on data from our screening cohort and data compiled from the literature we found that SIL1 mutations are invariably associated with the combination of a cerebellar syndrome and chronic myopathy. Cataracts were observed in all patients beyond the age of 7 years, but might be missing in infants. Six patients with SIL1 mutations had no intellectual disability, extending the known wide range of cognitive capabilities in Marinesco-Sjögren syndrome to include normal intelligence. Modestly constant features were somatic growth retardation, skeletal abnormalities and pyramidal tract signs. Examination of mutant SIL1 expression in cultured patient lymphoblasts suggested that SIL1 mutations result in severely reduced SIL1 protein levels irrespective of the type and position of mutations. Our data broaden the SIL1 mutation spectrum and confirm that SIL1 is the major Marinesco-Sjögren syndrome gene. SIL1 patients usually present with the characteristic triad but cataracts might be missing in young children. As cognitive impairment is not obligatory, patients without intellectual disability but a Marinesco-Sjögren syndrome-compatible phenotype should receive SIL1 mutation analysis. Despite allelic heterogeneity and many families with private mutations, the phenotype related to SIL1 mutations is relatively homogenous. Based on SIL1 expression studies we speculate that this may arise from a uniform effect of different mutations on protein expressio

    Influence of dietary boron supplementation on some serum metabolites and egg-yolk cholesterol in laying hens

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    The influence of dietary boron (B) supplementation on some serum parameters and egg-yolk cholesterol was studied in laying hens. A total of 224 eighteen-week-old hens of the Hyline Brown 98 strain were assigned to 7 groups with 4 replicates of 8 hens each after 10 days of adaptation, and they were fed commercial diets supplemented with 0, 5, 10, 50, 100, 200 or 400 mg/kg (diet) B (H3BO3) for 8 weeks. Serum gamma-glutamyl transpeptidase (GGT) activity, albumin, glucose, total cholesterol, HDL- and LDL-cholesterol levels were decreased with all B levels. Except in the group receiving 5 mg/kg B supplementation, decreases were found in serum triglycerides in all groups. Serum aspartate aminotransferase (AST) activity was decreased in the groups receiving 100 mg/kg or higher levels of B. All levels of B supplementation increased lactate dehydrogenase (LDH) activity at weeks 21 and 22, while 10 mg/kg or higher levels of B increased serum globulin, urea and egg-yolk cholesterol levels. The results demonstrate that B supplementation at levels exceeding 5 mg/kg affects serum biochemical parameters and increases egg-yolk cholesterol in laying hens

    Follicular-compact-cellular carcinoma in the thyroid gland of a dog

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    This case was determined accidentally in a 1.5-year-old, cross-breed male dog during a necropsy for an experimental study conducted in our laboratory, following a clinical examination as well as haematological, biochemical and urine analyses. The dog was clinically healthy. Haematological and biochemical parameters, except for a decrease in serum triiodothyronine (T-3), and urine analysis findings were within the reference range. A mass 3 x 4 x 3 cm in size and 22 g in weight that was observed in the thyroid gland located in the left cranioventral cervical region at the level of the larynx was investigated macroscopically and microscopically. The cut surface of the mass was lobulated, hyperaemic and haemorrhagic and had necrotic areas. In the microscopical examination, this mass was diagnosed as follicular-compact-cellular carcinoma due to the presence of many incomplete follicular structures without colloid in their lumens, a few follicles filled with colloid in their lumens and solid areas surrounded by a fine connective tissue formed by pleomorphic, neoplastic cells resembling thyroid follicular epithelial cells and showing mitotic activity
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