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1.
Balkan J Med Genet ; 26(1): 83-88, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37576787

RESUMO

Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy. We report on five cases of babies with confirmed cystic fibrosis (CF), being the result from in vitro fertilization (IVF) with donor (4 cases) or own gametes (one case). There has been no family history for CF in any of the families affected. The clinical presentation in the children ranged from meconium ileus to recurrent respiratory infections and severe nasal polyposis. The age of diagnosis also varied from birth until 9 years. Since one of the presented cases was discovered in a very renowned private IVF clinic, the clinic changed their own protocol, and currently they test every donor for CF carriership. The percentage of CF carriers in the donor population is roughly the same as the one predicted in the general population of Bulgaria - 1/33. Although PGD is costly, the costs for proper care for a CF patient are currently much higher. The more economical option would to screen every donor for CF carriership. IVF requires a lot of physical and psychological stamina. The couples that go through this procedure also require a great deal of hope. It is essential to be more preconscious for possible congenital diseases. We advocate every IVF center to test the donors for CF carriership or to provide PGD for their clients.

2.
Allergol Immunopathol (Madr) ; 47(3): 227-233, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30262413

RESUMO

INTRODUCTION AND OBJECTIVES: Th17 lymphocytes are now widely believed to be critical in various chronic pulmonary diseases. However, there is still a small number of investigations regarding children. We aimed to assess the percentage of Th17 lymphocytes and IL-17A in peripheral blood of children with chronic obstructive lung diseases. PATIENTS AND METHODS: We included a total of 42 children: 20 with bronchial asthma (BA), 12 with cystic fibrosis (CF) and 10 healthy children without a history of allergies, aged 4-17 years. Th17 cells (CD3+CD4+CD161+CCR6+) were determined in peripheral blood by flow cytometry. The concentration of serum IL-17A was measured by ELISA. RESULTS: The BA patients had a significantly higher percentage of Th17 (12.40±1.16%) compared to the CF children (7.64±0.87%, p=0.0035) and healthy (7.25±0.45%, p=0.008). Stratifying the BA group, we found higher levels of Th17 in patients with severe BA (p=0.03), whereas patients with moderate BA had Th17 cells close to those in CF and healthy children. We found that patients with better control of BA had Th17 closer to those with CF (p=0.98) than BA children with poor control (p<0.001) (post hoc, Bonferroni correction). CF patients with concomitant P. aeruginosa infection showed slightly higher percentages of Th17 cells than those without infection (8.08±3.09% vs. 6.25±2.42%, p=0.294). CONCLUSIONS: The percentage of Th17 cells was significantly increased in the peripheral blood of children with severe BA compared to the children with moderate BA, which suggests that the former could possibly benefit from future target therapies.


Assuntos
Doença Pulmonar Obstrutiva Crônica/imunologia , Células Th17/imunologia , Adolescente , Bulgária , Contagem de Células , Separação Celular , Criança , Pré-Escolar , Feminino , Citometria de Fluxo , Humanos , Interleucina-17/sangue , Masculino , Subfamília B de Receptores Semelhantes a Lectina de Células NK/metabolismo , Receptores CCR6/metabolismo
3.
Radiat Environ Biophys ; 48(1): 77-84, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-18956208

RESUMO

This study aimed to test whether a correlation exists between single-dose resistance to zeocin and the ability to develop a zeocin-induced adaptive response (AR) in Chlamydomonas reinhardtii strains. Three genotypes were used: wild type (WT) strain 137C and two strains (H-3 and AK-9-9), which are highly resistant to radiation based on survival studies. Based on a micro-colony assay, the strains could be arranged according to their single-dose resistance to zeocin as follows: AK-9-9 > H-3 > 137C. However, zeocin induced a similar level of DSB in strains AK-9-9, H-3 and 137C. The radio- and zeocin-resistant strains AK-9-9 and H-3 showed higher DSB rejoining capacity than the WT strain 137C, suggesting that DSB rejoining can at least partly account for different cell survival. Both WT and radio-resistant strains develop zeocin-induced AR involving increased DSB rejoining. The radio- and zeocin-resistant strains AK-9-9 and H-3 again showed higher DSB rejoining capacity than the WT strain 137C. The higher resistance of strains H-3 and AK-9-9 did not abrogate their ability to adapt, albeit with a smaller magnitude as compared to the WT strain. The obtained results characterize new radio-resistant C. reinhardtii strains, which enrich the collection of resistant C. reinhardtii strains.


Assuntos
Adaptação Fisiológica/efeitos da radiação , Bleomicina/toxicidade , Chlamydomonas reinhardtii/fisiologia , Chlamydomonas reinhardtii/efeitos da radiação , Doses de Radiação , Animais , Sobrevivência Celular/efeitos da radiação , Chlamydomonas reinhardtii/citologia , Chlamydomonas reinhardtii/genética , Quebras de DNA de Cadeia Dupla/efeitos da radiação , Reparo do DNA/efeitos da radiação , Cinética
4.
Trends Ecol Evol ; 34(7): 669-679, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31047718

RESUMO

To improve the likelihood of conservation success, donors, policy makers, nongovernmental organizations (NGOs), and researchers are increasingly interested in making conservation decisions based on scientific evidence. A major challenge in doing so has been the wide variability in the methodological rigor of existing studies. We present a simple framework to classify different types of conservation evidence, which can be used to understand the strengths, weaknesses, and biases in the conservation effectiveness literature. We then apply this framework to evaluate the evidence for the efficacy of four important strategies in tropical forest conservation. Even though there has been an increase in methodologically rigorous studies over time, countries that are globally important in terms of their biodiversity are still heavily under-represented by any type of conservation effectiveness evidence.


Assuntos
Conservação dos Recursos Naturais , Ecossistema , Biodiversidade , Florestas
7.
Genetika ; 23(9): 1664-70, 1987 Sep.
Artigo em Russo | MEDLINE | ID: mdl-3480257

RESUMO

Balkan endemic nephropathy (BEN) is wide-spread in definite districts of Bulgaria, Yugoslavia and Romania. A specific chromosome marker in BEN was established. The marker is characterized by a band asymmetry in chromosome pairs #3, due to a shortening of the 3q25 band and faster fusion of sub-bands 3q26. 1 and 3q26.3.


Assuntos
Nefropatia dos Bálcãs/genética , Cromossomos Humanos Par 3 , Marcadores Genéticos , Nefrite Intersticial/genética , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Humanos , Cariotipagem , Masculino , Linhagem
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