Search results for "Angel"
showing 10 items of 287 documents
Prader–Willi Syndrome with Angelman Syndrome in the Offspring
2021
We report the second case, to the best of our knowledge, of a mother with Prader–Willi syndrome (PWS) who gave birth to a daughter with Angelman syndrome (AS). The menarche occurred when she was 16, and the following menstrual cycles were irregular, but she never took sexual hormone replacement therapy. At the age of 26, our patient with PWS became pregnant. The diagnosis was confirmed by molecular genetic testing that revealed a ~5.7 Mb deletion in the 15q11.1–15q13 region on the paternal allele in the mother with PWS and the maternal one in the daughter with AS, respectively. Both the mother with PWS and the daughter with AS showed peculiar clinical and genetic features of the two syndrom…
The angelman syndrome: A brief review
2017
Angelman's Syndrome (AS) was described for the first time by Harry Angelman in the 1960s, based on obervation of three child patients with similar physical and behavioral features such as severe intellectual impairment, lack of language, motor disorders and happy behaviour. Many years later the typical patients' features were identified as linked to genetic abnormalities mainly characterized by neurological symptoms. Life expectancy is good although the symptoms tend to be stable and severe.
The endemic vascular flora of Peloritani Mountains (NE Sicily): Plant functional traits and phytogeographical relationships in the most isolated and …
2014
This study is aimed at (1) producing a complete and updated inventory of the endemic vascular flora of Peloritani Mountains, (2) defining the geographical limits of Peloritani, regarded here as a biogeographical district and (3) highlighting possible paleogeographic connections with other Mediterranean lands. The heterogeneity analysis of the endemic flora was performed by means of contingency tables, through the x 2 test. The endemic flora of this area consists of 129 specific and infraspecific taxa, of which 15 are restricted to the Peloritani Mountains. The analysis of habitats revealed that endemic taxa are most abundant on cliffs, rangelands, woods and garrigues. A large number of surv…
Molecular analysis of the fungal community associated with phyllosphere and carposphere of fruit crops
Michelangelon veistämisen muotokielen yhtäläisyyksistä eri mediumeissa - taiteenala mediumina
2007
Il Carteggio di Michelangelo. Una biografia attraverso le lettere.
2014
Apoteosis ideológica / 3
2004
A New Evangelization in the life of the family and the church
2018
The Church is at all times guiding the truth and credibility of the Gospel. Reflecting on the role of the New Evangelization in the family, it is worth stopping at the concept and meaning of the family. The family is holy, as St. John Paul II is a place where life is properly protected and can develop. The family is a community of people who aspires to eternal life. In Christian terms, the family is a community of parents and children built on the relationship of man and woman. As the Dogmatic Constitution on the Church of Lumen Gentium emphasizes, the family is referred to as the home church. This is where the functions of the Church are fulfilled: priesthood, royal and prophetic.
Brief an Garlieb H. Merkel
1799
Ms. 930a, Nr. 8, Bl. 22r-23v Böttiger, Karl August. Brief an Garlieb H. Merkel, Weimar, d[en] 13. November 1797 Autora rokraksts / Autograph, vācu, angļu un latīņu val. / Deutsch, Englisch und Latein [4] lpp. / S. Attēlu numuri / Bildnummern: 930a-008-1 – 930a-008-4 Der Verfasser nennt in diesem inhaltsreichen Brief zahlreiche Namen und hält nicht nur die Verbindung mit Merkel, die aus dessen erstem Aufenthalt in Weimar resultierte, aufrecht, sondern gibt ihm weitere Hinweise und Empfehlung für seinen weiteren Aufenthalt in Dänemark. So rät er zur Übersetzung dreier Romane aus dem Englischen, darunter Jane Wests „A gossip's story“ (London 1796). Ferner bittet der Verfasser Merkel um Gefälli…
SYNTHESIS OF PYRROLO[3,2-H]QUINOLINONES WITH GOOD PHOTOCHEMOTHERAPEUTIC ACTIVITY AND NO DNA DAMAGE
2010
In the search for new photochemotherapeutic agents, a series of derivatives of the ring system pyrrolo[3,2-h]quinoline--bioisosters of the angular furocoumarin angelicin--were synthesized through a four-step synthetic approach, in reasonable overall yields. Eight of the synthesized derivatives showed a remarkable phototoxicity against a panel of four human tumor cell lines and a great dose UV-A dependence, reaching IC₅₀ values at submicromolar level. The mode of cellular death photoinduced by pyrrolo[3,2-h]quinolines was evaluated through a series of flow cytometric analysis and other tests were performed to clarify their mechanism of action.