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The aim of the study was to assess the health-related quality of life (HRQOL) and cognitive function in patients with Crigler–Najjar syndrome (CNS) type I and its impact on their lives. Twenty-one patients diagnosed with CNS type I aged 1 month to 18 years in the Paediatric Hepatology Unit of Cairo University Children's Hospital were enrolled in this cross-sectional observational study. The patients' health-related quality of life (HRQOL) was assessed using the World Health Organization Quality Of Life BREF questionnaire (WHOQOL-BREF) and the Short Form 36 Health Survey Questionnaire (SF-36). Cognitive function was assessed using the Stanford–Binet Intelligence Scale: Fifth Edition (SB5). All patients had a history of admission to a neonatal intensive care unit, 17 were managed by phototherapy only and 5 also underwent exchange transfusion. According to the WHOQOL questionnaire, 11 cases (52.4%) had a low QOL score, and 7 of 13 patients had an average score for their total IQ test. Cases with poor compliance to phototherapy had statistically significantly lower QOL scores (p=0.001), while, according to the SF36 survey, cases who received exchange transfusion had statistically significantly higher cognitive function (p=0.03). There was a positive correlation between the neurological effect as a complication of the disease and poor physical QOL. Paediatric patients with CNS have significantly lower HRQOL, especially physically, psychologically and environmentally. It is recommended that assessment of HRQOL should be a routine part of follow-up in CNS patients. Patients whose HRQOL is affected receive regular psychiatric counselling, social support and rehabilitation. Abbreviations: CNS: Crigler–Najjar syndrome; HRQOL: health-related quality of life; IQ: intelligence quotient; NICU: neonatal intensive care unit; QOL: quality of life; SB5: Stanford–Binet intelligence scale: 5th edition; SF–36: Short Form 36 Health Survey Questionnaire; UDGT: uridine diphosphate glucuronosyl transferase; UGT1A1: uridine 5'–diphosphate glucuronosyltransferase; WHOQOL–BREF: World Health Organization Quality of Life Brief Version. [ABSTRACT FROM AUTHOR]

An economical alternative method of increasing the light intensity of phototherapy for neonatal jaundice is the use of reflective sheets placed on the sides of the incubator. To determine whether reflective sheets in addition to phototherapy increase the reduction of bilirubin levels and the duration of hospital stay. The study was undertaken in the neonatal intensive care unit of Cairo University Children's Hospital. There were two groups: a study group of 90 full-term neonates with neonatal jaundice who received single phototherapy in incubators covered with white plastic reflective sheets and a control group of 90 full-term neonates with neonatal jaundice who received single phototherapy without the reflective sheets. The mean (SD) rate of bilirubin decline in the first 24 hours of phototherapy was greater in the study group [3.7 (0.86) µmol/L/hr] than in the control group [2.2 (0.14) µmol/L/hr] (p<0.001). Use of reflective sheets decreases the total duration of phototherapy and the cost and duration of hospitalisation without any added complications. Abbreviations: AAP: American Academy of Pediatrics; HIDS: high-intensity double-surface; LMIC: low- and middle-income countries; MCTP: mirror-covered tunnel phototherapy; NICU: neonatal intensive care unit; TSB: total serum bilirubin. [ABSTRACT FROM AUTHOR]

The blood testicular barrier (BTB) is a barrier protecting the testes from damage. It also plays an important role in spermatogenesis. The intracellular adhesion molecule-1 (ICAM-1) is a member of the immunoglobulin cell adhesion molecule family and is a constituent component of the BTB. This study was carried out to investigate the association between the single nucleotide polymorphism (SNP) rs5498 in the ICAM-1 gene and non-obstructive azoospermia. A total of 100 male patients with non-obstructive azoospermia and 100 fertile males (healthy control) were included in this study. Genotyping of ICAM-1 gene rs5498 was performed using polymerase chain reaction-restriction enzyme fragment length polymorphism (PCR-RFLP). Both AG and GG genotypes were significantly more prevalent among the infertile men compared to the control group (p < 0.001). The odds ratio (OR) for the polymorphic allele (G) was 2.4 with 95% confidence interval from 1.38 to 3.19 (p < 0.001). The study shows that ICAM-1 rs5498 (1462A>G) SNP is positively associated with an increased risk for obstructive azoospermia, with the genotype AG heterozygotes showing a significantly higher frequency among infertile men. [ABSTRACT FROM AUTHOR]

This case-control study was carried out to examine the association between CYP1A1 gene (6235T

Purpose: To report of a 55-year-old woman suffering from choroidal infiltrates as a first clinical manifestation of T-LGL leukemia. Methods: Retrospective case report. Results: A healthy woman presented with photophobia in both eyes since 1 month. She showed a panuveitis with anterior chamber as well as vitreous cells, creamy-white choroidal lesions in both eyes and a cystoid macular edema in the left eye. Lab testing showed only a moderate lymphocytosis, all other tests, including a pars plana vitrectomy and an anterior chamber tap, were negative. Due to the persistent lymphocytosis, she was referred to the oncologist. A biopsy of the bone marrow revealed T-LGL leukemia. A subsequent biopsy of the choroid showed an infiltration of T-LGL and therefore systemic therapy with cyclophosphamide was started. Conclusions: This is a very rare case describing an involvement of the choroid in T-LGL leukemia. [ABSTRACT FROM AUTHOR]

Chicory (Cichorium spp.) is a valuable vegetable crop worldwide for its edible leaves and for the production of coffee substitutes from roots. Agrobacterium rhizogenes-mediated genetic transformation of two species of chicory (C. intybus and C. endivia) was investigated using Agrobacterium strain K599 harbouring p35SGFPGUS+ plasmid and two types of explants: leave and leaf stalks. This Agrobacterium strain proved to be competent in the transformation with transformation rate about (23.1%) in leaf explants of C. intybus. However, the transformation rate with C. endivia was much lower (3.6%). Moreover, the hairy roots appeared from different infection sites of the leaf explants. Several hairy roots of the two species were acquired, out of them 11 clones (C. intybus) and two clones (C. endivia) were selected due to their fast-growing character. Growth of hairy roots was determined on the basis of total root biomass accumulation. It was found that the liquid MS-basal medium seems to be the most suitable for biomass production. PCR analysis revealed foreign DNA integration in the selected transgenic hairy root clones. Notable, the transgenic hairy roots exhibited substantially higher growth rates and accumulated higher amount of inulin than non transgenic roots (WT). Also, the total phenolic compounds were determined. [ABSTRACT FROM AUTHOR]

Background: Increased production of free radicals and oxidative stress in type II diabetic patients could be one of the probable causes for development of complications. The authors hypothesise that such a mechanism also contributes to the development of diabetic nephropathy in those patients. Aim: The aim of this study was to evaluate the association of DNA fragmentation damage with diabetic nephropathy in type II diabetes mellitus, so as to use it as a future novel predictive marker. Patients and methods: The study population included 100 patients with diabetic nephropathy, 100 diabetic patients without nephropathy and 100 healthy volunteers as controls. Lipid profile, fasting and post-prandial blood glucose, micro-albuminuria (micro-alb) and glycosylated haemoglobin (HbA1c) were assessed in patients and controls. The technique of capillary electrophoresis was used to detect DNA damage. Results: The frequency of DNA damage in peripheral blood mononuclear cells was 71% in diabetic nephropathy compared with 45% in non-nephropathy patients (p < 0.001). None of healthy controls showed such a finding. Oxidative DNA fragmentation in the diabetic nephropathy group was 3.06 times that in the non-nephropathy group. Neither poor glycaemic control nor dyslipidaemia contributed to DNA damage in diabetic patients. Multivariate analysis showed that positive oxidative DNA damage test (OR1.58, p = 0.02) and the duration of ongoing DM (OR 1.48, p = 0.004) were the only independent factors contributing to the occurrence of diabetic nephropathy. Conclusion: Type II diabetic patients have more liability to oxidative DNA damage in general with a significantly higher frequency in diabetic nephropathy. DNA fragmentation analysis can be used as a predictive diagnostic biomarker for diabetic nephropathy. [ABSTRACT FROM AUTHOR]

This study was conducted to test the association between promoter DNA methylation ofα-Adducin(ADD1) gene and the risk of essential hypertension (EH). A total of 150 EH patients and 100 aged- and gender-matched controls were investigated. DNA methylation levels of five cytosine-phosphate-guanine (CpG) dinucleotides on ADD1 promoter were measured employing bisulfite pyrosequencing technology. Our results showed that females have a higher ADD1 DNA methylation than males and a significantly lower CpG1 methylation level is associated with increased risk of EH among them. As for males, a significant association between lower CpG2-5 methylation levels and increased risk of EH was shown. In addition, CpG2-5 methylation was found to be a highly significant predictor for EH among males. In females, CpG1 methylation was considered a predictor of hypertension. No significant correlations were found with biochemical measures, apart from the concentration of aspartate aminotransferase which was inversely correlated with ADD1 CpG2-5 methylation levels among female controls (r = −0.703). These findings highlight that ADD1 methylation may have a contributing role in the pathogenesis of EH with varying implications for both genders. [ABSTRACT FROM PUBLISHER]

Objective.Cognitive impairment commonly occurs in hepatitis C virus (HCV) patients. The objective of this study was to estimate the prevalence and sociodemographic and clinical correlates of cognitive impairment in HCV patients before and after 12 weeks of interferon treatment in comparison with a control group.Methods.Hundred and sixteen consecutive HCV patients were included in the study and divided into treated and untreated groups. All patients were assessed using sociodemographic and clinical questionnaire, Montreal Cognitive Assessment Scale (MOCA) and Hospital Anxiety and Depression Scale (HADS) before and after 12 weeks of treatment or observation.Results.Thirty-eight percent of treated patients showed cognitive impairment at baseline, which increased to 69% after 12 weeks of interferon treatment. This cognitive impairment was reflected in the total MOCA score and in visuo-constructional skills, attention, concentration, working memory, language, and short-term memory, which was not shown by untreated group after 12 weeks of observation. Cognitive impairment was associated with low education, but not with depression, anxiety, or virological response.Conclusions. Cognitive impairment is common in HCV patients and increases significantly after interferon treatment. It is not related to depression or anxiety in HCV patients. Future research should focus on prevention, treatment and outcome of cognitive impairment in HCV patients, particularly those receiving interferon therapy. [ABSTRACT FROM AUTHOR]

Purpose of the study: Retinal vein occlusion (RVO) is a major vision-threatening disease. Vitamin K epoxide reductase recycles reduced vitamin K, which is essential for the gamma carboxylation of clotting factors II, VII, IX, X and proteins C and S. Recently, the vitamin K epoxide reductase complex subunit 1 (VKORC1) --1639G>A (rs9923231) polymorphism has been reported as a novel risk factor for RVO in a Turkish population. The present study was set to confirm or to refute this association in a larger cohort of patients with RVO. Materials and methods: The present case-control study comprised 285 patients with central RVO, 401 patients with branch RVO and 333 control subjects. Genotypes of the VKORC1 -1639G>A polymorphism were determined by 5' exonuclease assay (TaqMan). Results: No significant differences in either genotype distributions or allele frequencies of the vitamin K epoxide reductase complex subunit 1 --1639G>A polymorphism were found between patients and control subjects (p>0.05). In a logistic regression analysis neither branch nor central RVO was predicted by the vitamin K epoxide reductase complex subunit 1 --1639G>A genotypes, but by arterial hypertension, ever-smoking status and in case of central RVO additionally by diabetes mellitus. Conclusions: Our data suggest that the vitamin K epoxide reductase complex subunit 1 --1639G>A gene polymorphism is unlikely a major risk factor for patients with either central or branch RVO. [ABSTRACT FROM AUTHOR]

Purpose: Genetic factors have been shown to play a remarkable role in the pathophysiology of glaucoma. Recently, two polymorphisms (rs1533428 and rs12994401) on chromosome 2p were found to be strongly associated with POAG in an Afro-Caribbean population in Barbados, West Indies. As data with regard to the role of these polymorphisms in a Caucasian population are lacking, the present study was set to investigate a hypothetical association between these polymorphisms and POAG in a Caucasian population. Methods: In total 723 participants were included in this study comprising 366 patients with POAG and 357 control subjects from the southern part of Austria. Genotyping of rs1533428 and rs12994401 was performed using polymerase chain reaction. Results: Allelic frequencies and genotype distributions of rs1533428 and rs12994401 did not show statistical significance between patients with POAG and control subjects (p < 0.05). Presence of the rs1533428 T-allele was associated with an odds ratio of 0.95 (95% CI: 0.76-1.19; p = 0.69) for POAG, while the rs12994401 T-allele was associated with an odds ratio of 0.94 (95% CI: 0.73-1.21; p = 0.65) for POAG. Conclusion: Our data suggest that rs1533428 and rs12994401 themselves are unlikely major risk factors for POAG in a Central European population. [ABSTRACT FROM AUTHOR]

Two compounds were isolated from the ethyl acetate extract of Brassica oleracea var. Italica (Brassicaceae), which were obtained from successive extraction of broccoli florets. They were nitrogenous compounds, identified by spectroscopic analysis as uridine and uridine 9-acetate. Ethyl acetate and chloroform extracts were found to be effective against Bacillus cereus and Bacillus subtilis, respectively, gram-positive bacteria. Ethyl acetate and ethanol extracts were highly active against E. coli (gram-negative). Additionally, ethyl acetate and chloroform extracts showed high activity against Candida albicans. [ABSTRACT FROM PUBLISHER]