Two newborn case reports diagnosed as Walker Warburg syndrome

Walker-Warburg sendromu (WWS) otozomal resesif (OR) geçişgösteren, retinal ve serebral anomaliler ile karakterize bir konjenital muskuler distrofidir. Bu makalede, öyküde akraba evliliğiolan hipotoni, makrosefali, tipik MR bulguları ve yüksek kreatinin kinaz düzeyi ile WWS tanısı koyduğumuz iki olgu sunulacaktır. Bu olguların sunulmasındaki amaç WWS için karakteristik vediagnostik olan MR bulgularını vurgulamak, nadir görülen busendrom için pediatristlerin yanı sıra radyologların da dikkatiniçekmek, OR geçiş göstermesi nedeniyle aileye verilecek danışmanlığın önemini vurgulamaktır.Walker-Warburg Syndrome (WWS) is a an inherited autosomal recessive congenital muscular atrophy characterized by retinal and cerebral anomalies. In this report two cases who had history of consanguineous marriage diagnosed as WWS according to findings of hypotonia, typical MR images and high creatini-ne phosphokinase levels, were presented. The aim of presenting these cases was to emphasize the characteristic and diagnostic MR findings for WWS, to distract attention of radiologists and pediatricians to this rarely seen syndrome and to emphasize the genetic counseling of families due to autosomal recessive inheritance of WWS

The effect of varenicline on Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio in healthy smokers and nonsmokers

Background: Varenicline could affect the T wave and QT interval. The interval from the peak to the end of the electrocardiographic (ECG) T wave (Tp-e) may correspond to the transmural dispersion of repolarization, and increased Tp-e interval and Tp-e/QT ratio are associated with malignant ventricular arrhythmias. In this study, we assessed the effects of varenicline on Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio. Methods: Thirty healthy volunteers (15 healthy non-smokers [NS] and 15 healthy smokers [S]) were included in the randomized, double-blind, placebo-controlled, crossover study. Varenicline (2 mg single dose) or placebo was administered in two different testing sessions (5 days after the first period, performed the second period). Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio were assessed in the supine position and during handgrip exercise before and after the participants were given placebo or varenicline. Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio were calculated from continuous ECG recordings and averages were used in the final analysis. Result: There were no statistically significant differences among any of the Tp-e interval, Tp-e/QT ratio and Tp-e/QTc ratio before and after placebo administration in both groups (S and NS). In the S group, Tp-e and QTc interval, and Tp-e/QT and Tp-e/QTc ratio were significantly increased after varenicline administration (Tp-e: 64.28 ± 8.78 vs. 70.42 ± ± 13.12; p = 0.02, QTc: 409.57 ± 28.17 vs. 425.28 ± 32.79; p = 0.02, Tp-e/QT: 0.18 ± 0.02 vs. 0.19 ± 0.03; p = 0.04, Tp-e/QTc: 0.17 ± 0.02 vs. 0.19 ± 0.02; p = 001) but these parameters were not changed in the NS group. Conclusions: Tp-e and QTc interval, and Tpe/QT and Tpe/QTc ratio were increased after varenicline administration in smoker

Factors Affecting Inadequate Empirical Antimicrobial Therapy and the Clinical Course of Upper Urinary Tract Infections in Elderly Patients: A Multicenter Study

7th International Congress of Infectious-Diseases-and-Clinical-Microbiology-Speciality-Society-of-Turkey -- MAY 08-13, 2018 -- Antalya, TURKEYIntroduction: In this study, we aimed to determine the risk factors associated with inadequate empirical antibiotherapy (IEAT) and hospital-related mortality in elderly patients being treated for upper urinary tract infections (UTI). Materials and Methods: This study included individuals aged 65 years and over who were hospitalized after being diagnosed of community-acquired UTI or community-onset healthcare-associated UTI and followed-up in clinics and/or intensive care units (ICU) of 33 hospitals between March and September 2017. Results: A total of 525 patients (48% males; mean age: 76.46 +/- 7.93 years) were included in the study. Overall, 68.2% of the patients were hospitalized through the emergency department and 73.9% of patients were followed-up for pyelonephritis. Gram-negative, Gram-positive, and Gram-negative and positive mix growths were determined in 88%, 9.3%, and 2.7% of urine cultures, respectively. Fifty-six (10.7%) of the patients died. In multivariate analysis, the presence of chronic obstructive pulmonary disease [Odds ratio (OR): 2.278], age 85 years and over (OR: 2.816), admission to the ICU (OR: 14.831), and IEAT (OR: 2.364) were independent factors that significantly affected mortality. The presence of a urinary catheter, being followed-up in the ICU, benign prostate hypertrophy, use of antibiotics other than piperacillin-tazobactam and carbapenem were determined as independent factors that significantly affected IEAT (p<0.05). Conclusion: In our study, we found a direct correlation between IEAT and mortality. Therefore, knowing the most frequent microorganisms and antibiotic susceptibility profiles observed in the UTI of elderly patients may help to decrease the mortality and morbidity associated with these infections.Infect Dis & Clin Microbil Special Soc Turkiy

Investigation of the PD-1/PD-L1 Expression in the Lesional Skins of Patients with Psoriasis

Introduction: Psoriasis is an immune-mediated, chronic and inflammatory disease whose pathogenesis is affected by the interactions of several immune cells and cytokines. PD-1 is an inhibitor receptor that is expressed to a large extent in T lymphocytes and responsible for regulating autoimmunity and self-tolerance. Objectives: In this study, we aimed to investigate the expression of PD-1/PD-L molecules in the lesioned skins of psoriasis patients. Methods: The study included 30 psoriasis patients, and 15 healthy volunteers as the control group. Anti PD-1 and PD-L1 antibodies were applied to the skin biopsy samples that were collected from the patient and control groups. Cytoplasmic and membranous staining of PD-1 and PD-L1 were considered positive. The number of stained immune cells that was examined for each case. Results: The percentage of the tissues with high PD-1 (+) and PDL-1 (+) immune cell counts were significantly higher in the psoriasis patients compared to healthy controls (P values = 0.004 and 0.002, respectively). A negative and statistically significant correlation was detected between PDL-1(+) immune cell numbers and PASI scores (P = 0.033, r=-0.57). Conclusions: In the lesioned skin samples of psoriasis patients, the PD-1 and PD-L1 expressions were significantly higher in immune cells than that in the skin samples of the healthy controls. This study was the first investigation of the expression of PD-1/PD-L molecules in the immune cells in found the lesioned skins of psoriasis patients

The Characteristics of Male Patients Diagnosed with Osteoporosis - Original Investigation

Aims: Evaluating the characteristics of male osteoporosis cases followed up in outpatient clinic. Material and Methods: The age, education status, alcohol, cigarette and coffee consumption, and nutritive habits of the male cases followed up in outpatient clinic between 2004-2005 were evaluated. Usage of toxic drugs and low energy fracture presence in the patient and his family were recorded. Sexual function was evaluated. Total blood count, comprehensive biochemical analyses, and bone mineral density (BMD) measurement (DXA Hologic) were applied. Results: The mean age of the 55 study subjects was 61.7 ± 14.69 (age range: 22-85). 49.09% of the cases graduated from university, 29.09% high school, and 21.81% primary school. 78.2% of the cases were not using alcohol at all, 5.5% of them drinks alcohol one glass a day, and 3.6% of them have a few glasses a week. The nonsmokers were 89%, the ones that smokes up to 5 cigarettes a day were 7.3%, and the ones who smokes more than 5 cigarettes a day were 3.7%. The percentage of cases that drinks more than 3 cups of coffee a day were 3.6%, the people who receive calcium-rich food were 69.1%, and the regularly exercising people were 49%. 40% of the cases manifested sexual dysfunction. Secondary diseases were determined in 67.3% of cases and 29.1% of them had a history of toxic drug usage. The percentages of having fracture history in patients and their families were, respectively, 16.4% and 10.9%. Mean total hip densitometry value T-score was -2.19 ± 0.89, and Lumbar 1-4 T-score was -2.63 ± 0.80. Conclusion: We can affirm about osteoporosis that it should be considered in men at advanced ages, secondary diseases and sexual hormones play significant roles as etiologic causes, and it effects especially lumbar region. (Osteoporoz Dünyasından 2006;12:84-6

Four separate hepatic vein reconstructions in living-donor right-lobe liver transplantation: Case report

WOS: 000367416500041PubMed ID: 26707331Living-donor liver transplantation (LDLT) with the use of a partial liver graft was established as an option to overcome the donor pool shortage, especially in developing countries. When right-lobe grafts are used for LDLT, appropriate venous drainage of the anterior segment is critical for maximizing the graft capacity. Here, we report a successful LDLT case using a right-lobe graft with 4 hepatic veins that were anastomosed separately to obtain adequate blood flow through the vena cava