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sábado, 7 de mayo de 2016

CYSTIC FIBROSIS

CYSTIC FIBROSIS
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. It is produced by a mutation in the gene encoding the regulatory protein transmembrane conductance cystic fibrosis. The disease develops when neither allele is functional.  The name cystic fibrosis refers to the characteristic processes scarring (fibrosis) and cyst formation within the pancreas, It also receives the name mucoviscidosis.





CF affects multiple organ systems, causing abnormal and thick secretions of the exocrine glands.  It is characterized by weight gain and intestinal blockage caused by thick, bulky stools. Other symptoms appear later in childhood and early adulthood. These include growth retardation, advent of lung disease, and increasing difficulties by poor absorption of vitamins and nutrients in the gastrointestinal tract. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections, other signs and symptoms include sinus infections, poor growth, etc.

Sufferers have a high concentration of salt (NaCl) in sweat, allowing make the diagnosis by analyzing, performing the sweat test. Also through prenatal genetic testing, birth through gibson and cooke.

Described more than 1500 mutations for this disease, most of them are small deletions or point mutations; less than 1% are due to mutations in the promoter or chromosomal rearrangements.

The main cause of morbidity and mortality is lung involvement, causing 95% of deaths. There is no curative treatment, however are possible treatments that can improve symptoms and prolong life expectancy. In severe cases, worsening the disease can impose the need for a lung transplant. The median survival for these patients worldwide is estimated at 35 years.


Mauna Rabhi Essamhi

lunes, 15 de febrero de 2016

THE RAVEN CYCLE

THE RAVEN CYCLE

The Raven Cycle is a book saga, written by the English author Maggie Stiefvater, that is composed of four books: The Raven Boys, The Dream Thieves, Blue Lily, Lily Blue and The Raven King. A few months ago, I read the first one in English and, in this writing, I will try to explain its plot; although it is a bit complicated.













The Raven Boys tells Blue Sargent’s story. She lives in a little village, called Henrietta, where there’s two kinds of people: the ones, like her, that must have a job to bring money home, and the ones, like Richard Gansey III, that have everything done in their life and only have to worried about look pretty. Despite that, Blue’s family is a little bit different than the others. Her house is full of women, women with psychic powers. Starting by Maura (Blue’s mother), Neeve and Jimi (Blue’s aunts), Calla and Persephone (Maura’s old friends) and ending with Orla (Blue’s cousin).  The curious thing is that each one of them have wonderful psychic powers, as I said; all, but Blue. However, it’s true that she’s able to intensify the powers of the others when she is near them. Due to that, every St Mark's Eve, Blue goes with his mother to the cemetery; where they see the spirits of all people born in Henrietta who are fated to die during the next twelve months. Maura asks them their names and then she tells her daughter to write them down. Because of Blue's lack of psychic abilities, she’s usually unable to see the spirits; except one day, when she saw a teenage boy named Gansey. Blue’s whole family had told her, during all her life, that she would kill her true love with their first kiss. Something that Blue didn’t believe, until that night. What had happened had only two explanations: that boy was her true love or she was going to murder him.



Gansey Richard III was always with Ronan Lynch and Adam Parrish; and the three of them were known as The Raven Boys because they studied in the Aglionby Academy, the most prestigious one in all Henrietta. They were also known by Gansey’s obsession to find the sleeping Welsh king, Glendower. As fate, Blue met them by chance and join their search. 



The question is, how Gansey will die? 

or how Blue will kill him?


To my mind, this book is quite interesting. The story is unique; I have never read anything like that before. As I see it, the author’s style is so good, because, at any time, you get tired of reading. The chapters are pretty short and they always end at the time of greater tension, that makes you hurry to turn the page.  Actually, I have already finished reading the first three books and I'm waiting for the last one to be published. It's pretty stressful because the author loves making cruel jokes on twitter that makes you think about not reading the next book.







LAURA ALONSO MOLINA