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German Rail Pass Unlimited travel across Germany, e. The interests of Professor John Opitz are linked not only to genetic disorders but also extend to historical medicine, history of the literature and to human evolution. Due to his exceptional talent, combined with his specific interest and basal knowledge in the genetic and pediatric fields, he is widely credited to be one of the best pediatricians in the world. For most of the audience the chance to see his image and hear his voice was a tremendously emotional experience. John Opitz was born in Hamburg in , but at a young age he moved with his mother from Germany to the US.
Soon after his arrival in the US he attended the University of Iowa, where he was introduced to the famous embryologist, geneticist, and zoologist professor Emil Witschil, with whom he started to work scientifically. In Iowa, one of the most ancient and accredited Universities in the US, he completed the medical course where he was appreciated for his scientific capacity by all the teachers of this University including the pediatrician Professor Hans Zellweger, who was also in Iowa having been formerly at the famous school of Fanconi in Zurich.
Accepting the invitation of Dr. He has received numerous awards and distinctions, and honorary degrees from the University of Montana, Kiel, Copenhagen and Ohio, to mention just a few. Sicilian Universities have kept in contact with this great scientist in the course of the years.
F. K. Waechter
With the collaboration of the Professor Giovanni Neri from the Catholic University of Rome, the three Sicilian universities and the Oasi of Troina regularly invited him in turn each year, with his prompt approval. Some of us had the opportunity to assist with the physical examinations performed by Professor Opitz during his stay in Sicily.
He showed his great talent with scientific and clinical competence, professionalism, empathy and delicacy in talking with the parents of the affected children. We were fortunate indeed to have the opportunity to take part in his clinical performance and each time it was a lesson in human behavioral and clinical professionalism. First, allow me to express to my most distinguished colleagues and friends of decades Giovanni Corsello of Palermo and Lorenzo Pavone of Catania, and the members of the Organizing Committee, my gratitude for their most gracious invitation to participate at this congress of the Italian Sicilian Society of Pediatrics.
Inability to participate personally for various reasons has been a strong impetus for me to prepare this review. To pay homage also to the Italians of immortal fame who were storytellers, e. Boccaccio, Petrarch, Dante, Tasso and those working more recently as scientists e. Now, addressing mostly pediatricians, allow me to begin with storytelling. This, and the need and ability of baby to nurse Fig. And that includes speech development. In a convincing recent study from Princeton University, Takahashi et al. Normal integration of a growing child into a family toward eventual kindergarten and school entry requires normal speech development.
In the editorial comment on the Takahashi et al. Reprinted with permission from AAAS. Thus, the results of Takahashi et al. Since, in the mouse, adult cortical plasticity depends on stimulation during an early postnatal critical period [ 9 ], it seems prudent to assume the same for humans and to promote it within reasonable physiological limits. As the child begins to crawl and to pull books from the bottom shelf to peruse by itself, it may be, as I was at an early age, enchanted by the images in the book Fig.
Thus, take fable attributed to Aesop, about the hare and the tortoise [ 1 ] with illustrations by Arthur Rackham, perhaps with image of the bunny snoring in the middle of the onion patch as turtle plods by to the goal. A really good fable has staying power, retold over centuries in different languages and in different styles. No parent I know or have known, or pediatrician for that matter, can deny the extraordinary value and power of reading or storytelling in raising a child.
Darwin — and Mendel — were contemporaries, the latter having read and annotated the 3 rd English, 2 nd German edition of the Origin of Species… while Darwin and Galton Fig. Mendel left no comment on Darwin, a theologically prudent thing to do at the time, given Mendel had already caused enough trouble for the Empire and Church by his stubborn refusal to pay the state-imposed tax on church property, specifically monasteries.
The tendency of hybrids to revert to either parent is part of a wider law… that crossing races as well as species tends to bring back characters which existed in progenitors hundreds and thousands of generations ago. Relationship in outline of Darwin and Galton, drawn from data in [ 6 ]. Darwin, preoccupied as he was with heredity and inheritance, mentions in The Variation of Animals and Plants under Domestication [, Vol II, p 70, i.
He found that all the offspring of this cross were zygomorphic in blossom structure. Self-fertilization of these zygomorphic hybrids yielded 88 zygomorphic and 37 peloric plants, close to a ratio, not analyzed or interpreted further by Darwin [ 21 ], p Darwin also crossed varieties of peas. Zygomorphic left image and peloric forms two right images of the snapdragon crossed by Darwin and cited by him in The peloric form was fertile and hereditary.
In other words, pure and plain Lamarckism i. Darwinism imposed on a theory of blending inheritance. In any event, something in his early years must have tipped Mendel off as to the suitability of the garden pea Fig. The fact that while attending the University of Vienna — Mendel published a note on the pest Bruchus pisi , the pea borer which periodically devastated the crop Fig. Illustration of peas from the Benary seed catalogue of Mendel confirmed the results on peas in the bean, here Phaseolus coccineus L , also with leguminous blossom structure.
Bruchus pisi, or B.
My late and most distinguished friend and colleague at the University of Wisconsin, Charles W. Cotterman, expert at combinatorics, left me xerox copies of 2 of the textbooks Mendel used during his studies primarily of physics at the University of Vienna. Die Lehre von den Combinationen nach einem neuen Systeme bearbeitet und erweitert. Ettinghausen A von. Both of these were highly advanced treatises. In any event, it seems that as early as or , Mendel had a research plan in mind. He returned to the Augustinian monastery of St. Mendel had ordered 34 kinds of pea seeds, 33 turned out to be reliably transmitting types with constant characteristics.
He then selected 22 sorts which he tested during the two preliminary years —, eliminating all but 7 traits that differed distinctively from each other as complementary trait pairs, and from the other 6 traits, namely Fig. Aa 1 : seed shape, round vs wrinkly. The 7 traits in peas on which Mendel eventually settled for his studies. From [ 14 ]. Mendel also appreciated, as a great advantage of this species, the ease with which it can be cross fertilized Fig.
Clearly, Mendel knew what he was doing. Also, he was fortunate in that all traits were unlinked except for 2 Gg, Dd on the same chromosome 4 , but far enough apart so as to appear unlinked in his work [ 23 ]. He finished in , analyzed the data, and prepared his manuscript in his characteristically beautiful handwriting.
It must be remembered that his two presentations were a didactic exercise, structured to convince, and not a peer-reviewed research paper in the modern sense. From Stubbe [ 21 ] with permission. In it Mendel:. Anticipated the genes , or as he called them: Die formbildenden Elemente. The fact that Mendel was able to express or paraphrase his results in clear and unambiguous mathematical terms makes them even more attractive and capable of proof of principle statistical analysis. It was the genius of Mendel Fig.
From Stubbe [ 21 ], with permission. To name but a few:.
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Finally, in his di- and tri-hybrid crosses, Mendel discovered that individual gene pairs in a more complex hybrid segregated independently of each other given they were not linked Figs. On the top: Punnett square of Mendelian dihybrid cross with resulting ratio of offspring involving unlinked traits. Above: expected ratio of offspring of a dihybrid cross AaBbxAaBb, represented in a Punnett square. The results of Bateson and Punnett in sweet pea flowers Lathyrus odoratus , a first hint of failure of independent assortment, thus of linkage, from [ 3 ], with permission.
Immediately after the rediscovery of Mendel in these data and their combinatorial consequences were confirmed and became the axiomatic cornerstone of genetics as genetics will become the cornerstone of medicine in the future going as we are already going from exome to genome sequencing. The initial focus was solely on the inheritance of pollen shape. This deviation from the offspring ratio expected for a dihybrid cross of unlinked genes became the basis for later mapping studies, placing genes, in linear order, on the chromosomes, later aided by the discovery of the polytene salivary gland chromosomes in diptera.