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M Nuri Ozbek Valérie Senée Sehnaz Aydemir L Damla Kotan Neslihan O Mungan Bilgin Yuksel Cécile Julier A Kemal Topaloglu 《Pediatric diabetes》2010,11(4):279-285
Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK. Wolcott–Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Wolcott‐Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by an early‐infancy‐onset diabetes mellitus associated with a variety of multisystemic clinical manifestations. Here, we present six patients with WRS, carrying the same homozygous mutation (EIF2AK3‐W522X), from two unrelated Turkish families. This is the largest series of patients with the same mutation for this rare syndrome. In this communication we compare clinical features of these six patients with the other 34 patients who have been reported to date, and review the clinical features of WRS. All WRS patients presented first with symptoms of insulin dependent diabetes mellitus, with a mean age at onset of 2 months. All patients had skeletal dysplasia or early signs of it, and growth retardation. Many of the patients with WRS have been reported to have developmental delay, mental retardation, and learning difficulties; in contrast, none of our patients showed abnormal development at age up to 30 months. Acute attacks of hepatic failure were reported in 23 cases out of 37 patients; in 15 of those 23 cases an acute attack of renal failure accompanied the liver failure. Exocrine pancreatic deficiency has been reported in only four cases other than our four patients. Central hypothyroidism was observed in six of 28 cases. We propose that central hypothyroidism is not a component of WRS, but rather a reflection of euthyroid sick syndrome. Four of our patients experienced severe neutropenia, compared to only five of the 27 other cases, suggesting that the W522X mutation may be specifically associated with neutropenia. Other than the consistent features of diabetes mellitus and epiphyseal dysplasia, WRS patients are otherwise characterized by extensive phenotypic variability that correlates poorly to genotype. 相似文献
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Oya Soylu Karapinar Neslihan Pinar Oğuzhan Özcan Tümay Özgür Kenan Dolapçıoğlu 《Gynecological endocrinology》2017,33(8):653-659
To determine whether the possible oxidative effect of methotrexate (Mtx) on ovary and to evaluate the effectiveness of alpha lipoic acid (ALA), which may be useful in many oxidative stress models.Thirty-two female Wistar-albino rats were randomly divided into four groups; control group, alpha lipoic acid group (ALA 100?mg/kg, 10?days), multiple dose Mtx group (Mtx 1?mg/kg 1, 3, 5, 7?days) and Mtx and ALA group (Mtx 1?mg/kg 1, 3, 5, 7?days and ALA 100?mg/kg, 10?days). Serum total antioxidant status (TAS), total oxidant status (TOS) and oxidative stress index (OSI), tumor necrosis factor-alpha (TNF-α), tissue malondialdehyde (MDA) and activities of glutathione peroxidase (GSH-Px) and catalase (CAT) and anti-Mullerian hormone (AMH) and total ovarian follicle count were evaluated.Mtx administration caused a significant decrease in TAS, a significant increase in TOS and OSI, a significant increase in MDA levels and a decrease in GSH-Px and CAT activity. Moreover the proinflammatory cytokine (TNF-α) was increased in the Mtx group. And AMH values and total follicle count were significantly decreased in Mtx group. However, ALA treatment reversed biochemical results and AMH levels and total follicle count.Alpha lipoic acid ameliorates methotrexate induced oxidative damage of ovarian in rats. 相似文献
15.
Atac IA Peksel A Yanardag R Sokmen BB Doger MM Bilen ZG 《Drug and chemical toxicology》2006,29(4):363-377
We investigated the effects of a combined treatment with chromium (Cr) and niacin on the spleen, tongue, and lens tissues in terms of lipid peroxidation (LPO), glutathione (GSH), serum catalase (CAT), lactate dehydrogenase (LDH), serum cholesterol, and total lipid levels in normal and hyperlipemic rats. In this study, female 1-year-old Swiss albino rats were used. The rats were randomly divided into four groups. Group I rats (control) were fed with standard pellet chow. Group II rats were fed a lipogenic diet in which 2% cholesterol, 0.5% cholic acid, and 20% sunflower oil were added and were given 3% alcoholic water for 60 days. Group III rats were fed with the same lipogenic diet and were treated with a dose of 250 microg/kg body weight CrCI3 x 6H2O and 100 mg/kg body weight niacin, for 45 days, by gavage. The rats in group IV were fed with pellet chow and treated with 250 microg/kg body weight CrCI3 x 6H2O and 100 mg/kg body weight niacin, by gavage, for 45 days. After 2 weeks, the animals showed symptoms of hyperlipemia. On the 60th day, tissue and blood samples were taken. We have observed decreased CAT activity and GSH levels, increased LDH activity, cholesterol, total lipid, and LPO levels in hyperlipemic rats. Niacin and Cr administration to hyperlipemic rats increased tissue GSH levels and CAT activity and decreased tissue LPO levels and LDH activity, cholesterol, and total lipid levels compared with hyperlipemic rats. We conclude that the administration of a combination of niacin and chromium has a protective effect against oxidative damage to tongue, lens, and spleen tissues as a result of hyperlipemia. 相似文献
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In this study, the psychological effects of single-dose corticosteroids administered to patients who had undergone rhinoplasty
were assessed. A total of 30 rhinoplasty patients were included in the study and were randomly assigned to 1 of 2 groups.
Preoperatively, patients completed the Bech Rafaelsen Mania Scale and the Beck Depression Inventory. Dexamethasone 10 mg was
given intravenously just before surgery to the first group, but no medication was administered to the second group. On the
first postoperative day, patients were seen again, and the Bech Rafaelsen Mania Scale and the Beck Depression Inventory were
again completed. Periorbital edema and ecchymosis were graded, and psychological well-being was measured on a standard visual
analog scale. All patients and physicians were blinded to treatment until the end of the study. Results show that administration
of a single-dose of dexamethasone 10 mg caused neither euphoria nor depression. No significant differences were observed between
steroid and control groups in terms of patients’ psychological well-being. With single-dose dexamethasone, periorbital edema
was significantly reduced on the first 2 postoperative days, and upper eyelid ecchymosis was significantly decreased only
on the first postoperative day. However, preoperative steroid administration had no influence on ecchymosis of the lower eyelid.
The authors conclude that single-dose dexamethasone 10 mg can be used safely to reduce periorbital edema and ecchymosis in
rhinoplasty patients. 相似文献
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The relationship between attachment styles and childhood trauma: a transgenerational perspective – a controlled study of patients with psychiatric disorders 下载免费PDF全文
Neslihan K Özcan PhD RN Nur E Boyacioğlu PhD RN Semra Enginkaya BSc Hülya Bilgin PhD RN Nesrin B Tomruk MD 《Journal of clinical nursing》2016,25(15-16):2357-2366
19.
Correlation between visual function and refractive, topographic, pachymetric and aberrometric data in eyes with keratoconus 下载免费PDF全文
AIM: To analyze the relationship between two visual functions and refractive, topographic, pachymetric and aberrometric indicators in eyes with keratoconus.
METHODS: Corrected distance visual acuity (CDVA), and letter contrast sensitivity (CS) were correlated with refraction, corneal topography, pachymetry, and total corneal wavefront data prospectively in 71 eyes with keratoconus. The topographic indices assessed were simulated keratometry for the flattest and steepest meridians (SimK1 and SimK2), posterior steeper K (Ks), elevation value in best-fit sphere (BFS) maps, squared eccentricity (?2), aspheric asymmetric index (AAI), pachymetry, thickness progression index (TPI), the amount of pachymetric decentralization (APD), and GalileiTM-keratoconus indices.
RESULTS: The mean CDVA (expressed as logMAR) were 0.25±0.21. The mean CS was 1.25±0.46. The spherical refraction correlated well with CDVA (r=-0.526, P<0.001). From topographic indices, SRI correlated with CS (r=-0.695), and IAI with CS (r=-0.672) (P<0.001 for all). Root mean square (RMS) was 4.3±1.81 µm, spherical aberration (SA) was -0.4±0.67 µm, vertical and horizontal coma were -2.1±1.47 and -0.4±0.72 µm. All wavefront data (except horizontal coma), AAI, ?2 and maximum BFS correlated significantly with the visual function (P≤0.001 for all).
CONCLUSION: In this study, CS is more affected than CDVA as a visual function. The quantity and quality of vision is significantly correlated with well-known and new topographic indices. There is not a significant correlation between visual function and pachymetric parameters. The significantly correlated indices can be used in staging keratoconus and to follow the outcome of a treatment. 相似文献
20.
Neslihan Duruturk Eda Tonga Metin Karatas Ersin Doganozu 《Journal of Physical Therapy Science》2015,27(7):2023-2028
[Purpose] To describe the functional consequences of patients with cardiac diseases and
analyze associations between activity limitations and quality of life. [Subjects and
Methods] Seventy subjects (mean age: 60.1±12.0 years) were being treated by Physical
Medicine and Rehabilitation and Cardiology Departments were included in the study.
Activity limitations and participation restrictions as perceived by the individual were
measured by the Canadian Occupational Performance Measure (COPM). The Nottingham Extended
Activities of Daily Living (NEADL) Scale was used to describe limitations in daily living
activities. To detect the impact of activity limitations on quality of life the Nottingham
Health Profile (NHP) was used. [Results] The subjects described 46 different types of
problematic activities. The five most identified problems were walking (45.7%), climbing
up the stairs (41.4%), bathing (30%), dressing (28.6%) and outings (27.1%). The
associations between COPM performance score with all subgroups of NEADL and NHP; total,
energy, physical abilities subgroups, were statistically significant. [Conclusion] Our
results showed that patients with cardiac diseases reported problems with a wide range of
activities, and that also quality of life may be affected by activities of daily living.
COPM can be provided as a patient-focused outcome measure, and it may be a useful tool for
identifying those problems.Key words: Activity limitation, Cardiac diseases, Quality of life 相似文献