Biological Role and Clinical Implications of microRNAs in BRCA Mutation Carriers

Women with pathogenic germline mutations in BRCA1 and BRCA2 genes have an increased risk to develop breast and ovarian cancer. There is, however, a high interpersonal variability in the modality and timing of tumor onset in those subjects, thus suggesting a potential role of other individual’s genetic, epigenetic, and environmental risk factors in modulating the penetrance of BRCA mutations. MicroRNAs (miRNAs) are small noncoding RNAs that can modulate the expression of several genes involved in cancer initiation and progression. MiRNAs are dysregulated at all stages of breast cancer and although they are accessible and evaluable, a standardized method for miRNA assessment is needed to ensure comparable data analysis and accuracy of results. The aim of this review was to highlight the role of miRNAs as potential biological markers for BRCA mutation carriers. In particular, biological and clinical implications of a link between lifestyle and nutritional modifiable factors, miRNA expression and germline BRCA1 and BRCA2 mutations are discussed with the knowledge of the best available scientific evidence

Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques

The prevalence of Beckwith-Wiedemann spectrum (BWSp) is tenfold increased in children conceived through assisted reproductive techniques (ART). More than 90% of ART-BWSp patients reported so far display imprinting center 2 loss-of-methylations (IC2-LoM), versus 50% of naturally conceived BWSp patients. We describe a cohort of 74 ART-BWSp patients comparing their features with a cohort of naturally conceived BWSp patients, with the ART-BWSp patients previously described in literature, and with the general population of children born from ART. We found that the distribution of UPD(11)pat was not significantly different in ART and naturally conceived patients. We observed 68.9% of IC2-LoM and 16.2% of mosaic UPD(11)pat in our ART cohort, that strongly differ from the figure reported in other cohorts so far. Since UPD(11)pat likely results from post-fertilization recombination events, our findings allows to hypothesize that more complex molecular mechanisms, besides methylation disturbances, may underlie BWSp increased risk in ART pregnancies. Moreover, comparing the clinical features of ART and non-ART BWSp patients, we found that ART-BWSp patients might have a milder phenotype. Finally, our data show a progressive increase in the prevalence of BWSp over time, paralleling that of ART usage in the last decades

Preliminary survey of Calathea G. mey. of neotropical and revision of Calathea G. mey genus Comosae (Petersen) K. Schum.

Calathea G. Mey. pertence à família Marantaceae e possui cerca de 250 espécies, todas ocorrentes nas Américas, especialmente em florestas úmidas, sendo um dos principais elementos no estrato herbáceo destas formações. Este gênero divide-se em 4 subgêneros, principalmente em função do tipo de hábito, arquitetura da inflorescência e arranjo das brácteas. Para entender melhor a problemática do gênero Calathea, foi realizado um levantamento completo das espécies deste gênero, que está apresentado como um checklist. Em seguida foi feita a revisão de Calathea ser. Comosae. A série Comosae é caracterizada por apresentar brácteas espiraladas, sendo que as brácteas superiores são estéreis e as inferiores férteis. Esta série está incluída no subgênero Pseudophrynium, cujas características são inflorescência com brácteas dispostas espiraladamente, ausência de caule aéreo, e presença de brácteas estéreis e férteis na inflorescência. Bibliografias mais antigas listavam esta série com 11 espécies, atualmente pelos resultados apresentados foram reconhecidas 25 espécies para a série. Foram analisados materiais dos principais herbários nacionais e do exterior, concluindo-se que os caracteres mais importantes na delimitação das espécies referem-se aos estaminódios, lobos da corola, as brácteas das inflorescências e folhas também tenham sido úteis taxonomicamente. Como principais novidades taxonômicas pode-se mencionar a apresentação de 3 espécies novas e a sinonimização de alguns binômios. O checklist apresenta 222 espécies reconhecidas, 189 nomes sinonimizados, 27 nomes excluídos e 44 espécies incertas.Calathea G. Mey belongs to Marantaceae family and comprises around 250 species all notably found in the Americas, particulary in humid forest. This genus is divided into 4 subgenus, an overall survey has been carried out and it is presented as a checklist. A revision of Calathea series has been made shortly after. This series is caracterized by spiralled bracts whereon the superior ones are sterile and the inferior ones are fertile. Former bibliographies listed 25 species have been inclued in series. Samples from the main national and international herbaria have been analysed and as a conclusion, the most important characters on species delimitation refer to staminodium, corolla lobes, bracts of in florescence, and leaves wich have been useful in taxonomic terms. The main taxonomic news provied by the present work are the presentation of 3 new species, besides several names considered as synonyms. The checklist presentes recognized species 222, the synonymys names 189, 27 excluded names and 44 species uncertain

Acanalonia conica (Hemiptera, Fulgoromorpha, Acanaloniidae), a Nearctic species recently introduced in Europe.- Deutsche entomologische Zeitschrift

Abstract The Neartic species Acanalonia conica (Say 1830) has been recently found in Italy. Analysis shows that the species has a good capability to settle outside its natural range. A. conica is a very polyphagous species and the population density in Italy appears larger than the one recorded in North America. We conclude that A. conica should be regarded as a potential pest in Europe

FAKTOR â FAKTOR RISIKO PENYAKIT JANTUNG KORONER (PJK) PADA PASIEN RAWAT INAP DI RUMAH SAKIT UMUM ANUTAPURA PALU PERIODE JANUARI â JUNI 2015

ABSTRAK Latar Belakang: Penyakit Jantung Koroner (PJK) merupakan masalah kesehatan utama di negara maju dan negara berkembang. Dilaporkan jumlah kasus kematian PJK di kota Palu tahun 2014 adalah 61 kasus. Penyakit jantung muncul akibat tersumbatnya pembuluh arteri dan mengakibatkan distribusi oksigen ke jantung terhambat. PJK mempunyai faktor risiko yang bisa diubah adalah hipertensi, dislipidemia, DM, obesitas, merokok, stres, dan inaktivitas fisik. Faktor risiko yang tidak bisa diubah adalah usia, jenis kelamin, riwayat keluarga. Metode: Penelitian ini merupakan studi analitik observasional dengan menggunakan desain penelitian case control untuk mengetahui faktor risiko PJK. Teknik pengambilan sampel secara total sampling yaitu 58 pasien kasus yang menderita PJK dan 116 pasien kontrol yang tidak menderita PJK berumur ≥25 tahun dan melakukan pemeriksaan kadar gula, kolestrol darah dan tekanan darah. Analisis data dilakukan secara univariat, bivariat dengan uji chi-square (α=0,05) dan analisa multivariat menggunakan metode regresi logistik ganda. Hasil: Berdasarkan 174 sampel yang diteliti, hasil uji statistik menggunakan uji chi-square yang memiliki hubungan bermakna adalah usia (p=0,034), jenis kelamin (p=0,042), riwayat keluarga (p=0,000), hipertensi (p=0,024), dislipidemia (p=0,020), DM (p=0,003), dan jumlah faktor risiko (p=0,016). Hasil multivariate yang paling berpengaruh terhadap kejadian PJK yaitu riwayat keluarga dengan nilai (OR=3,839). Kesimpulan:.Usia, jenis kelamin, riwayat keluarga, hipertensi, dislipidemia, DM, dan jumlah faktor risiko merupakan faktor risiko PJK. Faktor risiko yang paling berpengaruh terhadap PJK adalah riwayat keluarga

Freedom of will and its limitations: comparative study of legal norms in Russia and the USA

The relevance of the study is determined by the dynamics of development of inheritance law, both in general and its individual institutions, in particular, the institution of inheritance by will. Due to changes in Russian legislation, it is advisable to conduct a comparative legal analysis of the provisions on free will and the limits of its restriction to Russia and the United States. This will make it possible to determine the potential of the institution under study, used by various legal systems, to indicate direction of its further development in Russia. The leading research approach includes such scientific methods as dialectics, analysis, synthesis, deduction, comparative legal and formal legal method. Conclusions: The scientific approaches to understanding and restraining free will provided by US law differ significantly from their understanding by Russian law, which belongs to the Romano-German legal family. The right to choose the option of accepting the inheritance and the rules on the mandatory share, enshrined in Russian law, testify to the development of inheritance law towards a balance of interests of participants in inheritance relations by establishing new limits for implementation of the testator’s will

The concept of “justice” in the legislation of Russia and France, implementation features

The relevance of the study is determined by the prevailing variety of approaches to understanding the essence of the concept of “justice”, which is characteristic of both Russia and France. Such variability leads to a persistent distortion of this concept in practice of law enforcement, which, in turn, affects the effectiveness of administration of justice. The aim of the authors is to study scientific theoretical views and practical issues associated with the implementation of the principle of justice in two states. In the work we used following methods: dialectics, analysis, synthesis, deduction, as well as the formal legal and comparative legal method.Based on the analysis of the doctrine, legislation and judicial practice of two states, Russia and France, the following conclusions are drawn. At present, “justice” is understood as a universal notion, which is not limited only by coverage of regulatory norms of the law, but is actively applied by judicial practice. The use of this concept allows the court to make fair decisions depending on specific circumstances of the case, thereby achieving a balance of interests of participants in the process by interpreting and clarifying the law, and in some cases by creating a new rule of law that allows the courts to ensure the effective implementation of the principle of justice. However, in order to avoid variability in understanding this notion, it is proposed to fix the concept of “justice” in the civil procedure code, this will reduce the percentage of judicial conflicts and will contribute to formation of a uniform judicial practice