Pseudovitelliform maculopathy associated with hereditary hemochromatosis

Background: Hereditary hemochromatosis (HH) is an inherited autosomal recessive iron metabolism disorder resulting from a C282Y mutation in the HFE gene. Mutations in the HFE gene may result in iron accumulation and oxidative stress in the retina, resulting in macular degeneration. This article describes two patients with HH who were treated with erythrocytapheresis or phlebotomy, with no exposure to deferoxamine or any other chelation therapy, and who developed visual symptoms. Case Presentation: Both patients had known diagnoses of HH. Because of visual symptoms, they were referred to the ophthalmology clinic and underwent a retinal exam, multimodal imaging, and electrodiagnostic studies, which revealed structural and functional degeneration of the central macula. Fundus photography, fluorescein angiography, and fundus autofluorescence revealed changes at the level of the retinal pigment epithelium (RPE) in the central macula. In addition, optical coherence tomography revealed subfoveal accumulation of hyperreflective material at and below the RPE. Multifocal electroretinography confirmed a decreased cone response, whereas the full-field electroretinogram was unremarkable. Genetic testing ruled out Best’s vitelliform macular dystrophy and the other known hereditary macular dystrophies. The patients had known diagnoses of HH, homozygous C282Y mutations in the HFE gene, and no comorbidities; thus, we presumed that HH led to the observed morphological and functional disorders of the RPE, which in turn caused structural macular changes in both patients. Conclusions: Considering the macular findings and the nature of the patients’ primary illness, we believe that the accumulation of iron and photoreceptor metabolic products caused dysfunction in the RPE, which led to morphological and functional changes in the macula. Because the patients were not treated using chelating agents, we attribute the macular changes solely to iron accumulation and oxidative stress caused by the pathophysiological processes of HH. Further studies are needed to identify the plausible molecular or cellular insults underlying pseudovitelliform macular degeneration in patients with HH

Quality and Chemical Profile Assessment of Different Teas in Serbia

Satureja montana, Ocimum basilicum, Camellia sinesis, Saliva officinalis, Althaea officinalis, Thymus camphoratus, Rosmarinus officinalis, Mentha piperita and Mountain tea were investigated for their quality (ash and moisture contents), as well as for chemical profile. HPLC analysis was applied to determine saccharide, vitamin C and caffeine contents in all teas samples. Obtained results demonstrated high quality of all tea samples (moisture of all samples was below 12%), while chemical analysis revealed presence of glucose, fructose, sucrose, vitamin C and caffeine in tested materials. Exception was Ocimum basilicum, where only glucose was detected and quantified

Chemical Profile and Antioxidant Activity of Helianthus Tuberosus

Helianthus tuberosus L., commonly known as the Jerusalem artichoke, belongs to Helianthus genus and Asteraceae botanical family. Due to its wide range of biological activities, aim of this study was to investigate chemical profile of extracts obtained using different approaches: maceration, percolation, infusion and Soxhlet extraction. Extracts were further investigated regarding heavy metal, saccharides, total phenolics and total flavonoids contents, as well as antioxidant activity using DPPH assay. Obtained results showed presence of all investigated species, as well as significant capability of prepared extract to scavenge DPPH radicals

PERCEPTIONS ON SUPPORT, CHALLENGES AND NEEDS AMONG PARENTS OF CHILDREN WITH AUTISM: THE SERBIAN EXPERIENCE

Background: Autism spectrum disorders (ASD) significantly impact lives of affected individuals and their families. They confront daunting challenges and multiple demands in their daily life, when compared to parents of children with other disabilities or parents of typically developing children. Subjects and methods: Participants completed The Caregiver Needs Survey, the survey intended for parents or primary caregivers of children with a diagnosis of ASD. During the study, 231 parents were interviewed; 167 mothers and 64 fathers. Parents were recruited from the patient database comprised of families from the two largest cities in Serbia. All of them were contacted before the study, either via phone or at the child’s regular check-in visit. Results: Over 90 percent of the parents reported that additional support at schools, home, and improved relationships with service providers are necessary and important. The most important challenges related to care were child’s communication difficulties, social interaction difficulties, and problems with daily living skills. The significant predictors of lower overall satisfaction were parent’s higher education, having a first concern related to problems of the child’s interaction with others or playing alone, and parent frustration with accessing services in the past 12 months. Greater overall satisfaction, on the other hand, was related to having an in-school tutor training or assistance in managing child’s needs or implementing treatments, and having primary care doctor or pediatrician as a source of information on autism. Conclusions: Future efforts to develop ASD-related policies and services should also take the following into consideration: the low level of awareness among caregivers and health care providers about the early signs of autism; disparities in access to services; educational problems and significant levels of dissatisfaction with the overall care and stigma

Validity of an FFQ assessing the vitamin D intake of young Serbian women living in a region without food fortification: the method of triads model

Objective: The objective of the present study was to examine the external validity of an FFQ designed to estimate dietary vitamin D intake compared with a plasma biomarker and three repeated 24 h dietary recalls in women of reproductive age in Serbia, where there is no exposure to food fortified with vitamin D. The method of triads was applied. Design: In a cross-sectional study, 422 women completed the Women and Reproductive Health FFQ (WRH-FFQ) during the winter months. From a representative subgroup (n 44), three 24 h dietary recalls and anthropometric parameters were collected as well as a fasting blood sample for vitamin D biomarker analyses. Correlation coefficients were calculated between each of the dietary methods. Validity coefficients, as a correlation between the measured and estimated 'true' exposure, were calculated using the method of triads. Bland-Altman plots were also constructed. Setting: Three major universities in Serbia. Subjects: Healthy young women (n 422) aged 18-35 years. Results: The WRH-FFQ estimate of vitamin D intake for all participants was 4.0 (SD 3.3) mu g/d and 3.1 (SD 2.3) mu g/d for the subgroup. Bland-Altman plots for these intakes showed high agreement. Validity coefficients for the FFQ, 24 h recall and biomarker were. rho(QI) = 0.847 (95 % CI 0.564, 0.928), rho(RI) = 0.810 (95 % CI 0.537, 0.997) and rho(BI) = 0.499 (95 % CI 0.190, 0.840), while the correlation coefficients were 0.686, 0.422 and 0.404. Conclusions: The FFQ applied in the present study is a valid tool for assessing dietary vitamin D intake in women living in Serbia, a region without mandatory vitamin D food fortification

Isolation and partial characterization of an acid phosphatase from Artemisia vulgaris pollen extract

An acid phosphatase from an extract of mugwort (Artemisia vulgaris) pollen was purified by a factor of 48 by a combination of ion exchange and gel-chromatography. The molecular weights of the enzyme were 76 kDa and 73 kDa, determined by gel filtration on a Sephadex G-100 sf column and by SDS PAGE (under reducing and non-reducing conditions), respectively. In analytical isoelectrofocusing, the enzyme appears as two very close bands, pI at about 4.2. The optimum pH for the enzyme is 5.4. The apparent Km for p-nitrophenyl phosphate was estimated to be 0.16 mM. The purified enzyme has broad specificity, and hydrolyses p-nitrophenyl phosphate and a-naphthyl phosphate. Pyrophosphate and O-phospho-L-tyrosine were estimated to be the best substrates for this enzyme as potential in vivo substrates. The enzyme is inhibited competitively by phosphate (Ki = 1.25 mM), molybdate (Ki = 0.055 mM) and pyrophosphate (Ki = 6.7 mM) and non-competitively by fluoride (Ki = 9.8 mM). Metal ions such as Hg2+, Cu2+ and Zn2+ express an inhibitory effect on the enzyme, while the enzyme is slightly activated by non-ionic detergents, Tween 20 and Triton X-100. There is no change in the enzyme activity in the presence of tartrate, citrate, EDTA, 1,10-phenanthroline and sulfhydryl-group modifiers such as p-chloromercuribenzoate and N-ethylmaleimide

Chemometric analysis of antioxidant activity and anthocyanin content of selected wild and cultivated small fruit from Serbia

Introduction. The fruit types such as raspberries (Rubus idaeus), cherries (Prunus cerasus), blackberries (Rubus fructicosus), blackthorns (Prunus spinosa) and aronia (Aronia melanocarpa) are very common in Serbia. These fruit species are a valuable source of antioxidants. The goal of our work was to evaluate the antioxidant activities of ethyl acetate extracts of these five berries and to establish possible correlation between the content of anthocyanin and the antioxidant activity. Materials and methods. To determine antioxidant activity of the selected fruits, the DPPH (2,2-diphenyl-1-picrylhydrazyl) radical scavenging activity, the ABTS (2,2-azinobis-3 ethyl benzothiazoline-6-sulfonic acid) cation decolorization activity, the FRAP (ferric reducing antioxidant power), and the TRP (total reducing power) were measured. Results. The four methods selected for our assays showed strong antioxidant properties for blackberry samples. The total anthocyanin content was estimated using the pH differential method. The highest amount of anthocyanin was found in blackberry samples [(1063.53 ± 0.01) mg·kg–1 fresh fruit], while the lowest was in raspberry samples [(180.84 ± 0.02) mg·kg–1 fresh fruit]. The correlation between the content of anthocyanin and antioxidant activity was established using regression analysis. The highest correlation was found between total reducing power and total anthocyanin (r = 0.97, p < 0.05). Hierarchical cluster analysis divided selected fruit species into two statistically significant clusters. Conclusion. Our results confirmed that analyzed berries are rich in anthocyanins. A strong correlation among different assays as well as with anthocyanin content was observed. Cluster analysis can be used in food science, to classify different food types into groups, based on similarity among the results