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still fragile X syndrome gene mutations in human beings

An international team of scientists has managed to make the first direct measurement of the overall rate of genetic mutation in humans. The results - published in the journal Current Biology - and the method developed by the researchers provide a better understanding of the mutation rates and reduced, in line with the objectives of the scientists, mutations. According to British scientists and Chinese, the mutation is the basis of genetic variation that determines the onset of certain diseases - like cancer - and is a molecular clock that allows you to assess the evolutionary time scale. The improvement of knowledge about mutation rates would help to strengthen medical research and to shed light on human evolution and optimization of the measurements of the rate of mutation would also enable a more effective regulation of the clock of evolution. In the past, estimates of the mutation rate was obtained from phenotypic observations or by comparing sequences of similar species related. In this latest research, scientists have carried out the sequencing of the same stretch of DNA (more than 10 million "letters", or of nucleotides belonging to the Y chromosome) by two Chinese men separated by 13 generations and counted the differences. The men involved in this study belonged to a family that for centuries lived in the same village and whose common ancestor lived more than two hundred years ago. The researchers found that the Y chromosome is rarely subject to mutation and that it is transmitted unchanged from father to son. Over the generations the mutations occurred very slowly. The research team identified 12 mutations, 8 of which occurred in vitro and 4 of which occurred in vivo, or in a natural way from generation to generation. According to held by members of the team 10,149,073 10,149,085 letters examined were identical. "These four mutations have allowed us to calculate accurately the mutation rate: 1 out of 30 million nucleotides per generation. The result confirmed the expectations," said Dr Chris Tyler-Smith of The Wellcome Trust Sanger Institute, head of the project. "The results are reassuring because the methods we used, taking advantage of new sequencing technology, had not yet been used for this type of research. There are many genetic diseases result from new mutations," he added. "The accurate assessment of DNA mutations we can now begin to ask how the mutation rates vary between different regions of the genome and perhaps even between different individuals. "Humans are a number of new mutations in the DNA that varies from 100 to 200 (single base changes in DNA sequence that differ from the sequence inherited from parents) have the researchers said, noting that this figure is equivalent to a mutation every 15-30 million nucleotides. Keep in mind that most of these mutations have no harmful consequences and that neither health nor physical appearance. "Until a few years ago would been impossible to imagine such a large amount of collected data, "said Dr. Yali Xue of The Wellcome Trust Sanger Institute (UK), first author of the study." Being able to identify so few of the mutations was an undertaking as complex as finding a needle in a haystack. "

Federico Cesareo

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Guillai Barre Syndrome '

The Guillain-Barre '(GBS) and' one of these so-called rare diseases: affects the few people in the world, about 150 million, and is' almost 'incurable, because its process can not' be arrested, but mitigated and modified only marginally.
Also known as poliradicolonevrite (inflammation of the peripheral nervous system), the GBS is announced in a subtle and can 'endanger anyone's life, regardless of age', sex, race (if one can speak of race in humans), physical condition, type of feeding, previous or current diseases, etc.. It has a rapid onset, which may 'progress to total paralysis (quadriplegia) and cardio-respiratory failure within a few days. They are often associated with diffuse pains, especially in joints and extremities' (paresthesia and dysesthesia in hands and feet).
GBS strikes without a real cause (as they are often preceded by infections or vaccinations are considered as factors that "trigger", you think of a 'mediation' virus, but this 'difficult to diagnose) and it can' evolve in a deterioration that affects the autonomic innervation necessitating the use of resuscitation. In fact, the autonomic nerves control involuntary functions such as breathing, heartbeat, blood pressure, digestive and sexual functions, and always working independently in fact, even when we sleep.
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As polyneuropathy, GBS refers to a bilateral and symmetrical involvement of peripheral nerves (interest, ie, in a similar way, both sides of the body), and disorders generally begin in the hands and feet. Depending on the motor nerves are affected, sensory, or both, it comes to motor neuropathy, sensory, or mixed.
As peripheral neuropathy, to be affected are motor nerves, responsible for voluntary movement, and the sensory (allow us to sense pain, vibration, touch, to recognize the shapes of objects, Knowing the location of parts of our body in space).
GBS and 'immune-mediated neuropathy. The immune system, whose main task is' to protect the body against infectious agents outside, in this case, and for unknown reasons, attacks parts of the body causing the onset of autoimmune diseases. Here to be "attacked" are the peripheral nerves (sometimes limited to the component of myelin, but in many cases there 'involvement is also part of the axon, the nerve itself).
The disease is self-limiting with spontaneous recovery from the acute phase in two months, and remission almost 'full of symptoms in about a year. Sometimes the results remain, and is' therefore crucial early therapeutic intervention, making use of intravenous immunoglobulin, plasmapheresis (washing of the blood), particularly the rehabilitation (fisiokinesi).
The healthy individual affected by the syndrome is facing traumatic experience also (and especially) on a psychic level: often do not understand what is happening in his body, and therefore does not accept the severe limitations and the long process that awaits him. It 'important to be paired with a few conventional therapies for psychiatric and psychological support to limit the series forms of depression, phobias and pathologies induced by the development of anxiety and prostranti very likely to somatization. E 'in the conviction of the writer, suffering from GBS 18 months ago, it's very important that the patient can deal directly with ex-patients in order to establish with them, along with interviews with the specialist psychologist, a dialogue to exchange experiences and receive comfort and help.