The first descriptions of the disease are found again in the Textbook of Dermatology, published in 1874, "On disease of the skin, including exanthemata" London - New Sydenham Society, Hebra F.-Kaposi M.

The term "Xeroderma Pigmentosum" was coined from the hungarian dermatologist Moritz Kaposi wanting in such a way to indicate a characterized disease picture from pigmented and dry skin.
Hereditary disease, trasmitted with recessive autosomical modality, the XP is characterized from extreme photosensivity that causes strict and premature damages to level of the cutis and of the eyes. Its incidence is of 1:250000 in Europe and USA, while in Japan the relationship is of 1:40000.

German physician Otto Werner (1879-1936) described the clinical picture of this syndrome in 1904, in four sisters, defining the skin thin, tight, scleroderma-like, that mimics premature aging, with bilateral cataracts associated.

Also known by the term "Progeria" - 'prematurely old' Greek derivation, due to the fact that usually presents wrinkling and aging of face. Progeria occurs in two forms: Progeria of childhood, described by Jonathan Hutchinson (1886) and Hastings Gilford (1897), diagnosed in the first or second year of life and Progeria adultorum commonly indicated as Werner Syndrome.

Jonathan Hutchinson (1828-1913) described “A case of congenital absence of hair with atrophic condition of the skin and its appendages”. Lancet, London, 1: 923, 1886.

At the same time wrote “Congenital absence of hair and mammary glands with atrophic condition of the skin and its appendages in a boy whose mother had been almost wholly bald from alopecia areata from the age of six”. Transactions of the Medico-Chirurgical Society of Edinburgh, 69: 473-477, 1886.

Subsequently Hastings Gilford (1861-1941) wrote “On a condition of mixed premature and immature development”. Medico-Chirurgical Transactions, London, 80: 17-45, 1897 and coined the term Progeria from greek “Prematurely old”. In the year 1904 published “Progeria: a form of senilism”. Practitioner, London, 73: 188-217.

 

In the last post I suggested that the U.S. learn from Europe in the use of high speed trains as a core component of a national transportation system.  Trains are more energy efficient than cars, give off far less greenhouse emissions than airplanes, rarely get cancelled or delayed due to ‘weather’ or ‘flow control’ and depart and arrive near the central city.  Given that America is much larger than any country currently utilizing high speed trains, it can only be a part of the transportation mix.  What might the composite national transportation profile look like in 2015?

Physical attractiveness is important in choosing whom to date. Good looking people are not only popular targets for romantic pursuits, they themselves also tend to flock together with more attractive others. Does this mean then that more attractive versus less attractive people wear a different pair of lens when evaluating others’ attractiveness?

Columbia University marketing professor, Leonard Lee, and colleagues, George Loewenstein (Carnegie Mellon University), Dan Ariely (MIT) and James Hong and Jim Young (HOTorNOT.com), decided to test this theory in the realm of an online dating site. The site HOTorNOT.com allows members to rate others on their level of physical attractiveness.

(Publicado no jornal O Primeiro de Janeiro a 24/01/2008)
A formação paleontológica desperta frequentemente as questões que abordo.
Não foi o caso desta vez.
Estava eu em frente ao espelho, a preparar-me para a árdua e sisífica tarefa que pesa na vida de qualquer homem, o barbear, quando olhando existencialmente para as lâminas de corte me ocorreu o seguinte: “Mas estes tipos não param de aumentar o número de lâminas? Não haverá limite?”

(Publicado no jornal O Primeiro de Janeiro a 01/11/2007)
Apesar de muito desejada, a hibernação não passa de um desejo inatingível pelos humanos. Já demos por nós, várias vezes e em alturas de maior cansaço, a cobiçar dormir por vários dias. Desligar e apenas descansar. Passar pelas brasas de forma longa e continuada.
Mas a hibernação é muito mais do que um simples dormir.

A University of Alberta study recommends that workers on pig farms be monitored as part of influenza pandemic preparedness, after a child on a communal farm in Canada was diagnosed with swine flu in 2006.

Though the seven-month-old boy made a full recovery, health researchers were concerned because of evidence that the virus spread to other members of the multi-family community, who, fortunately, all demonstrated mild or no apparent illness. It has been known for a long time that avian and swine strains of flu can spread to humans, with avian strains appearing to be more dangerous than swine strains; as of late 2007, the avian flu had killed 194 people in 321 cases reported worldwide.

“What does the body of a professor share with a blob?” Neil Shubin answers this and other questions about the evolutionary history of our anatomy in Your Inner Fish: A Journey Into The 3.5-Billion-Year History of the Human Body (Pantheon, 2008).

As an undergraduate student considering a research career in science, I once endured a 7 AM human anatomy course. In my semi-conscious state, breathing the slightly disturbing fumes of the preservative that the teaching assistant kept spraying on the cadavers, I was thinking, ‘this is morbidly fascinating, but really not that relevant to what scientists do today.’

If Neil Shubin had been teaching my anatomy course, I wouldn’t have struggled to get out of bed and make it to class on time. His book is a fun, compelling tour of the evolutionary history of the human body, filled with dozens of examples that nicely illustrate why our anatomy only makes real sense when it is understood in the context of evolution.

If you live in Pennsylvania, it's West Virginia. If you live in California, it's every 'red state' in the Union. No matter where you live, some nearby state is the butt of inbreeding jokes.

Well, those places you make fun of for having an evolutionary tree that's a straight line are also having the last laugh, it seems.

In a new paper, deCODE scientists establish 'a substantial and consistent positive correlation between the kinship of couples and the number of children and grandchildren they have.'

Counterintuitive? Sure, from an evolutionary perspective closely-related parents have a higher probability of having offspring homozygous for deleterious recessive mutations, but closer parental kinship can also decrease the likelihood of immunological incompatibility between mother and offspring, for example in rhesus factor blood type.