Psychological aspects rehabilitation of patients with anophthalmia

This work deals with the psychological rehabilitation of patients with anophthalmia having eye protesis as the main role on the problem. Stages of psychological reaction after eye lost and also the difficulties of adaptation of fellows with both eyesight lost is widely discussed. In order to help practitioners, recommendations on dealing this kind of patients has been given

ИНФИЦИРОВАННОСТЬ ДОНОРСКОГО МАТЕРИАЛА ВИРУСАМИ ГРУППЫ ГЕРПЕСА КАК ВОЗМОЖНАЯ ПРИЧИНА РАЗВИТИЯ БОЛЕЗНИ ТРАНСПЛАНТАТА ПРИ СКВОЗНОЙ КЕРАТОПЛАСТИКЕ

We present the study of outcomes of PCR-diagnostics directed on detection of DNA of herpes-family viruses in donor’s corneal tissues taken during penetrating keratoplasty (PK). In total, there were 46 patients, who under- went PKs. They were followed up from 14 days till 12 months. PCR-research of fragments of a donor cornea re- vealed existence of DNA in 21.7%. The retrospective analysis showed that in the presence of herpes-virus DNA in donor’s cornea is the risk factor of postoperative complications development and increases the rejection rate 2–3 times, reaching 100% – 70%. Thus the high risk of graft failures remains associated not only with the system immunosupressive therapy which is usually considered as the precondition of activization of chronic infections, but also in the absence of that. It gives the ground to conclude that preoperative preparation of a donor material, especially «fresh» corneas, should include expanded PCR-diagnostics on herpes-viruses and its obligatory dis- carding in cases of positive tests. В работе представлены результаты ПЦР-диагностики, направленной на обнаружение ДНК вирусов груп- пы герпеса (ВГЧ 1,2, ВЭБ, ВГЧ 6,7) ткани донорской роговицы, взятой во время операции сквозной кера- топластики (СКП). Под наблюдением находились 46 больных (глаз), перенесшие операцию сквозной ке- ратопластики (СКП). Сроки наблюдения больных после СКП – от 14 дней до 12 месяцев. ПЦР-исследование фрагментов донорской роговицы выявило наличие ДНК вирусов группы герпеса в 21,7%. Ретроспективный анализ показал, что при наличии ДНК вирусов группы герпеса в роговице до- нора риск развития послеоперационных осложнений и помутнения кератотрансплантата повышается в 2–3 раза, достигая 100 и 70% соответственно. При этом высокий риск неблагоприятных исходов сохра- няется не только на фоне системной иммуносупрессивной терапии, которая обычно учитывается как предпосылка активизации хронических инфекций, но и при отсутствии таковой. Это дает основание за- ключить, что предоперационная подготовка донорского материала, особенно «свежих» роговиц, должна включать расширенную ПЦР-диагностику на вирусы группы герпеса и обязательную его выбраковку в случаях положительных тестов.

The Genetic Landscape and Epidemiology of Phenylketonuria

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]-1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A gt G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C gt T (p.Arg408Trp) (22.2%), c.1066-11G gt A (IVS10-11G gt A) (6.4%), and c.782G gt A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066-11G gt A];[1066-11G gt A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome

The Genetic Landscape and Epidemiology of Phenylketonuria

Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prevalence 1:23,930 live births (range 1:4,500 [Italy]–1:125,000 [Japan]). Comparing genotypes and metabolic phenotypes from 16,092 affected subjects revealed differences in disease severity in 51 countries from 17 world regions, with the global phenotype distribution of 62% classic PKU, 22% mild PKU, and 16% mild hyperphenylalaninemia. A gradient in genotype and phenotype distribution exists across Europe, from classic PKU in the east to mild PKU in the southwest and mild hyperphenylalaninemia in the south. The c.1241A>G (p.Tyr414Cys)-associated genotype can be traced from Northern to Western Europe, from Sweden via Norway, to Denmark, to the Netherlands. The frequency of classic PKU increases from Europe (56%) via Middle East (71%) to Australia (80%). Of 758 PAH variants, c.1222C>T (p.Arg408Trp) (22.2%), c.1066−11G>A (IVS10−11G>A) (6.4%), and c.782G>A (p.Arg261Gln) (5.5%) were most common and responsible for two prevalent genotypes: p.[Arg408Trp];[Arg408Trp] (11.4%) and c.[1066−11G>A];[1066−11G>A] (2.6%). Most genotypes (73%) were compound heterozygous, 27% were homozygous, and 55% of 3,659 different genotypes occurred in only a single individual. PAH variants were scored using an allelic phenotype value and correlated with pre-treatment blood phenylalanine concentrations (n = 6,115) and tetrahydrobiopterin loading test results (n = 4,381), enabling prediction of both a genotype-based phenotype (88%) and tetrahydrobiopterin responsiveness (83%). This study shows that large genotype databases enable accurate phenotype prediction, allowing appropriate targeting of therapies to optimize clinical outcome.Fil: Hillert, Alicia. No especifíca;Fil: Anikster, Yair. No especifíca;Fil: Belanger Quintana, Amaya. No especifíca;Fil: Burlina, Alberto. No especifíca;Fil: Burton, Barbara K.. No especifíca;Fil: Carducci, Carla. No especifíca;Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Christodoulou, John. No especifíca;Fil: Dordevic, Maja. No especifíca;Fil: Desviat, Lourdes R.. No especifíca;Fil: Eliyahu, Aviva. No especifíca;Fil: Evers, Roeland A.F.. No especifíca;Fil: Fajkusova, Lena. No especifíca;Fil: Feillet, Francois. No especifíca;Fil: Bonfim Freitas, Pedro E.. No especifíca;Fil: Gizewska, María. No especifíca;Fil: Gundorova, Polina. No especifíca;Fil: Karall, Daniela. No especifíca;Fil: Kneller, Katya. No especifíca;Fil: Kutsev, Sergey I.. No especifíca;Fil: Leuzzi, Vincenzo. No especifíca;Fil: Levy, Harvey L.. No especifíca;Fil: Lichter Koneck, Uta. No especifíca;Fil: Muntau, Ania C.. No especifíca;Fil: Namour, Fares. No especifíca;Fil: Oltarzewsk, Mariusz. No especifíca;Fil: Paras, Andrea. No especifíca;Fil: Perez, Belén. No especifíca;Fil: Polak, Emil. No especifíca;Fil: Polyakov, Alexander V.. No especifíca;Fil: Porta, Francesco. No especifíca;Fil: Rohrbach, Marianne. No especifíca;Fil: Scholl Bürgi, Sabine. No especifíca;Fil: Spécola, Norma. No especifíca;Fil: Stojiljkovic, Maja. No especifíca;Fil: Shen, Nan. No especifíca;Fil: Santana da Silva, Luiz C.. No especifíca;Fil: Skouma, Anastasia. No especifíca;Fil: van Spronsen, Francjan. No especifíca;Fil: Stoppioni, Vera. No especifíca;Fil: Thöny, Beat. No especifíca;Fil: Trefz, Friedrich K.. No especifíca;Fil: Vockley, Jerry. No especifíca;Fil: Yu, Youngguo. No especifíca;Fil: Zschocke, Johannes. No especifíca;Fil: Hoffmann, Georg F.. No especifíca;Fil: Garbade, Sven F.. No especifíca;Fil: Blau, Nenad. No especifíca

Phenylketonuria in Portugal: Genotype-Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses

The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease.info:eu-repo/semantics/publishedVersio

Липосомы, содержащие дексаметазон: получение, характеристика и использование в офтальмологии

Glucocorticoid dexamethasone (DM) liposomes of various lipid compositions were obtained. DM was used in insoluble form and in water-soluble form as disodium salt of dexamethasone phosphate (DMP). Correspondence between the drug inclusion percent and the structure of liposomes, and its solubility in water was studied. Lipids were shown to allow DM solubilization at concentration exceeding its solubility in water 9.3 times. Using repeated gel-chromatography, release of medicinal substances from liposomes was determined for all the samples of liposomes containing both DМP and DM. It was thus shown that up to 87% of the included substance remained in the liposomes. Biocompatibility of «empty» liposomes and liposomes containing a glucocorticoid with rabbit eyeball tissues was studied after their endovitreal incorporation. Dipalmitoylphosphatidylcholine liposomes were demonstrated not to cause inflammatory reaction after introduction in this way. Distribution of the liposomes in tissues of the rabbit eye posterior chamber was determined. It was shown that the liposomes after endovitreal introduction were distributed in various layers of retina.Получены липосомы различного липидного состава, содержащие глюкокортикоид дексаметазон (ДМ) и динатриевую соль дексаметазона фосфата (ДМФ). Изучена зависимость эффективности включения препарата от его растворимости в воде и от состава липосом. Показано, что липиды позволяют солюбилизировать ДМ в концентрации, в 9.3 раза превышающей его растворимость в воде. Для всех образцов липосом, содержащих как ДМФ, так и ДМ, определена степень высвобождения лекарственных субстанций из липосом путем проведения повторной гель-хроматографии. При этом показано, что в липосомах сохраняется до 87% включенной субстанции. Изучена биосовместимость «пустых» липосом и липосом, содержащих глюкокортикоид, с тканями глазного яблока кролика при их эндовитреальном введении. Установлено, что липосомы из дипальмитоилфосфатидилхолина не вызывают воспалительной реакции при таком способе введения. Изучено распределение липосом в тканях заднего отдела глаза кролика. При этом показано, что липосомы при эндовитреальном введении распределяются в различные слои сетчатки