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1.
Gels ; 8(12)2022 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-36547319

RESUMO

The treatment of contaminated water is currently a major concern worldwide. This work was directed towards the preparation of a composite hydrogel by entrapping cherry stones powder on chitosan, which is known as one of the most abundant natural polymers. The synthesized material was characterized by scanning electron microscopy, by Fourier transform infrared spectroscopy, and by the point of zero charge determination. Its ability to remove two azo dyes models (Acid Red 66 and Reactive Black 5) existing in single form and in binary mixture was evaluated. Response Surface Methodology-Central Composite Design was used to optimize three parameters affecting the process while targeting the lowest final contaminant concentrations. The best results were obtained at pH 2, an adsorbent dose of 100 g/L, and a temperature of 30 °C, when more than 90% of the pollutants from the single component systems and more than 70% of those of the binary mixtures were removed from their aqueous solutions. The adsorption process was in accordance with Elovich and pseudo-second-order kinetic models, and closely followed the Freundlich and Temkin equilibrium isotherms. The obtained results led to the conclusion that the prepared hydrogel composite possesses the ability to successfully retain the target molecules and that it can be considered as a viable adsorbent material.

2.
Hemoglobin ; 40(2): 85-96, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26711012

RESUMO

The purpose of this meta-study was to investigate ß-thalassemia (ß-thal) mutations and their chromosomal background in order to highlight the origin and spread of thalassemia alleles in the European and Mediterranean areas. Screening of more than 100 new Romanian ß-thal alleles was also conducted. The results suggest an ancient introduction of mutations at codon 39 (C > T) (HBB: c.118C > T) and IVS-I-6 (T > C) (HBB: c.92 + 6T > C) in Romania. A comparative study was performed based on restriction fragment length polymorphism (RFLP) haplotypes associated with ß-thal mutations in Romania and in Mediterranean countries. Each common ß-thal allele from different populations exhibits a high degree of haplotype similarity, a sign of a clear unicentric origin for the IVS-I-110 (G > A) (HBB: c.93-21G > A), IVS-I-6, IVS-II-745 (C > G) (HBB: c.316-106C > G) and codon 39 mutations (the 17a [+ - - - - + +], 13c [ - + + - - - +], 17c [ + - - - - - +] and 14a [- + + - + + + ] ancestral RFLP background, respectively), followed by recurrent recombination events. This study also showed that geographic distances played a major role in shaping the spread of the predominant ß-thal alleles, whereas no genetic boundaries were detected between broad groups of populations living in the Middle East, Europe and North Africa. The analyses revealed some discrepancies concerning Morocco and Serbia, which suggest some peculiar genetic flows. Marked variations in ß(A) were observed between Southeast Asia and the Mediterranean, whereas a relative genetic homogeneity was found around the Mediterranean Basin. This homogeneity is undoubtedly the result of the high level of specific historic human migrations that occurred in this area.


Assuntos
Haplótipos , Mutação , Globinas beta/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Alelos , Substituição de Aminoácidos , Códon , Frequência do Gene , Humanos , Desequilíbrio de Ligação , Polimorfismo de Fragmento de Restrição , Romênia/epidemiologia
3.
Genet Test Mol Biomarkers ; 13(6): 821-4, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19839757

RESUMO

Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by weakness and atrophy of proximal muscles. Despite the fact that the disease transmission suggests an autosomal recessive trait, the wide spectrum of clinical manifestations indicates that other genes may contribute to the SMA phenotype. To identify possible modifier genes, the aim of our study was to investigate the relationship between BamH1 perlecan gene polymorphism and SMA type I, the classical severe form of the disease. We genotyped 40 patients with SMA type I disease and 50 subjects without personal or heredo-colateral neuromuscular problems, using the polymerase chain reaction-restriction fragment length polymorphism method. After statistical analysis of the observed genotypes, a significant difference (p = 0.03) could be observed regarding the incidence of TT genotype and T allele in boys with SMA type I compared with affected girls. However, this result cannot be assessed because of the small and unequal number of subjects. We concluded that there might be no association between perlecan gene polymorphism and SMA type I disease.


Assuntos
Predisposição Genética para Doença , Proteoglicanas de Heparan Sulfato/genética , Atrofias Musculares Espinais da Infância/genética , Alelos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Polimorfismo de Fragmento de Restrição
4.
Hemoglobin ; 33(3): 163-76, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19657830

RESUMO

Hemoglobin (Hb) disorders are common, potentially lethal monogenic diseases, posing a global health challenge. With worldwide migration and intermixing of carriers, demanding flexible health planning and patient care, hemoglobinopathies may serve as a paradigm for the use of electronic infrastructure tools in the collection of data, the dissemination of knowledge, the harmonization of treatment, and the coordination of research and preventive programs. ITHANET, a network covering thalassemias and other hemoglobinopathies, comprises 26 organizations from 16 countries, including non-European countries of origin for these diseases (Egypt, Israel, Lebanon, Tunisia and Turkey). Using electronic infrastructure tools, ITHANET aims to strengthen cross-border communication and data transfer, cooperative research and treatment of thalassemia, and to improve support and information of those affected by hemoglobinopathies. Moreover, the consortium has established the ITHANET Portal, a novel web-based instrument for the dissemination of information on hemoglobinopathies to researchers, clinicians and patients. The ITHANET Portal is a growing public resource, providing forums for discussion and research coordination, and giving access to courses and databases organized by ITHANET partners. Already a popular repository for diagnostic protocols and news related to hemoglobinopathies, the ITHANET Portal also provides a searchable, extendable database of thalassemia mutations and associated background information. The experience of ITHANET is exemplary for a consortium bringing together disparate organizations from heterogeneous partner countries to face a common health challenge. The ITHANET Portal as a web-based tool born out of this experience amends some of the problems encountered and facilitates education and international exchange of data and expertise for hemoglobinopathies.


Assuntos
Hemoglobinopatias/terapia , Sistemas de Informação , Projetos de Pesquisa , Talassemia/terapia , Europa (Continente) , Geografia , Humanos , Cooperação Internacional , Internet , Região do Mediterrâneo
5.
Zygote ; 16(4): 315-26, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18812005

RESUMO

Oogenesis is a critical event in the formation of female gametes, whose role in development is to transfer genomic information to the next generation. During this process, the gene expression pattern changes dramatically concomitant with genome remodelling, while genomic information is stably maintained. The aim of the present study was to investigate the chromatin architecture in newt oocytes. Using fluorescence microscopy, as well as transmission electron microscopy (TEM), immunohistochemical method and RE-ChIP assay, some peculiar aspects of chromatin and chromosome organization and evolution in crested newt oogenesis were investigated. We focussed our investigations on detection of certain epigenetic modifications (H4 hyperacetylation, H2A ubiquitinylation and cytosine methylation) at the rRNA gene (18S-5.8S-28S) promoter region. Our findings suggest that there is an involvement of some epigenetic modifications as well as of linker histone variants in chromatin architecture dynamics during crested newt oogenesis.


Assuntos
Cromatina/fisiologia , Epigênese Genética/fisiologia , Oogênese/fisiologia , Laranja de Acridina , Animais , Nucléolo Celular/ultraestrutura , Cromatina/isolamento & purificação , Cromatina/ultraestrutura , Corantes , Eletroforese em Gel de Poliacrilamida , Feminino , Genoma/fisiologia , Histonas/isolamento & purificação , Microscopia Eletrônica , Oócitos/citologia , Oócitos/fisiologia , Oócitos/ultraestrutura , Triturus
6.
Acta Derm Venereol ; 86(3): 209-14, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16710576

RESUMO

Vitiligo has been associated with the host's genetic profile, metabolic abnormality and immunostatus. The purpose of this study was to investigate the association of vitiligo with autoimmune diseases for 31 out of 39 subjects with vitiligo and their first-degree relatives living in a small Caucasian inbred rural community. They were compared with healthy individuals. A 2.28% prevalence of vitiligo was calculated and the presence of consanguine marriages (72.3%) was noted for this community. Our results indicate an increased prevalence of thyroidopathies, diabetes mellitus and rheumatoid arthritis in families with vitiligo. We also show that the Apa-I polymorphism of the vitamin D receptor gene is associated with vitiligo. This is the first study of its kind performed in Romania suggesting that the vitamin D receptor gene might play a role in the aetiopathogenesis of skin depigmentation.


Assuntos
Doenças Autoimunes/genética , Predisposição Genética para Doença , Receptores de Calcitriol/genética , Vitiligo/genética , Adulto , Doenças Autoimunes/epidemiologia , Estudos de Casos e Controles , DNA/análise , Primers do DNA , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Polimorfismo Genético , Polimorfismo de Fragmento de Restrição , Prevalência , Romênia/epidemiologia , Saúde da População Rural , Vitiligo/epidemiologia , População Branca/genética
7.
Zygote ; 13(3): 197-205, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16261764

RESUMO

The study of nuclear molecular architecture during gametogenesis represents one approach towards the deciphering of the molecular organization of eukaryotic chromatin. During spermatogenesis, chromatin undergoes several dynamic transitions, which are often associated with important changes not only in its physical conformation but even in its composition and structure. Dynamic alterations in chromatin structure mediated by postsynthetic histone modification and DNA methylation constitute a major regulatory mechanism of gene function of eukaryotes. Using transmission electron microscopy and molecular investigations, some peculiar aspects of chromatin organization and evolution in spermatogenesis of the crested newt Triturus cristatus were investigated. We focused our investigations on the dynamics of chromatin structure after treatment with TSA (a histone deacetylase inhibitor).


Assuntos
Cromatina/ultraestrutura , Espermatogênese/genética , Espermatozoides/ultraestrutura , Triturus/genética , Acetilação , Animais , Cromatina/efeitos dos fármacos , Cromatina/fisiologia , DNA/isolamento & purificação , Metilação de DNA , Eletroforese em Gel de Poliacrilamida , Regulação da Expressão Gênica , Inibidores de Histona Desacetilases , Histonas/metabolismo , Ácidos Hidroxâmicos/farmacologia , Masculino , Microscopia Eletrônica de Transmissão , Proteínas Nucleares/classificação , Proteínas Nucleares/isolamento & purificação , Espermatogênese/fisiologia , Transcrição Gênica , Triturus/fisiologia
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