How it this possible?
Well, the genetic code which is translated to from proteins “talks” in words made of three letters (base pairs).
A gene mutation that deletes only one or two base pairs, or worse still signals the end of the word (known a “premature stop codon”) will result it a very abnormal dysfunctional gene product, leading to complete deficiency of functioning dystrophin, and the more severe Duchenne Muscular Dystrophy.
However a gene mutation (deletion) that removes base pairs in a multiples of three is called an in-frame mutation, and causes a (sometimes only minor) qualitative change in the dystrophin protein, leading to the milder Becker’s muscular dystrophy.
Ataluren (also known as PTC124) is a small molecule designed to overcome premature stop codons.
Put simply, the idea is that it might convert some Duchenne boys in to a milder form (more like Becker’s) of muscular dystrophy by allowing them to produce some more normal dystrophin.
The drug can only help boys affected with premature stop codons confirmed by DNA testing.
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Cabin fever is a state of restlessness, depression and irritability brought on by an extended stay in a confined space or a remote and isolated area.
The term was first used to describe early U.S. settlers who experienced long winters snowed in alone in their log cabins – a well known example is the Montana winter of 1886-7 when snow fell every day from November through the end of February, cattle froze in place on the range, and ranchers ran short on coal, flour and wood.
In 1915, polar explorer Sir Ernest Shackleton and his men made camp on a drifting ice floe in the so-called voyage of endurance for three months after their ship sank. The 28 men lived in crowded tents. Shackleton later wrote: “Day by day goes by, much the same as one another, We work; we talk; we eat. … The two subjects of most interest … our rate of drift and the weather.”
The term has also applied to mental illness occurring on long oceanic voyages, after passengers and crew have endured long trips in small, cramped quarters below the deck of a ship
The mental anguish of cabin fever will often end in violence. In 1959 a Russian at a Soviet Antarctic base murdered a colleague with an axe after losing a game of chess. Following this, the Soviet authorities prohibited cosmonauts from playing chess!
Probably the best known case of Cabin Fever affected author Jack Torrence in Stephen King’s novel and film, The Shining, while snow bound with his family in an old hotel.
As the winter progresses, Jack becomes more and more unhinged, until he finally attempts to kill his wife and child.
What do you do if you think you are getting Cabin Fever (aside from trying to kill your wife an family)? …………… Get Out of the House if you can – for exposure to daylight exercise. Maintain Normal Eating Patterns – try not to overindulge in junk food or skip meals altogether. Set Goals – set daily and weekly goals, and track your progress toward completion. Use Your Brain – although TV is a distraction, it is also relatively mindless, stimulating your mind can help keep you moving forward and reduce feelings of isolation and helplessness.
Debra Haining lay in a hospital bed at Massachusetts General Hospital, awaiting surgery. Both eyelids were colored purple, and blue dots were drawn on her forehead, including one on each temple, and one above her left eye.
The dots indicated the location where she feels the migraine, the trigger points, where the pain strikes. She is 57 years old and says that she never had a headache until five years ago, when she woke up feeling as if she’d been shot through the head.
She was forced to spend nearly every day in bed with the curtains drawn. She could not tolerate light, smell, or sound. Typically she rose only to see her 12-year-old son off to school in the morning and in the afternoon when he returned. Until recently, she had an ice pack to her head and could not drive a car.
A half-dozen medications, four different pain clinics, a variety of headache cocktails and injections, and numerous neurologists didn’t provide relief. Haining, who lives in Pawtucket, R.I., searched the Internet until she found Dr. W.G. (Jay) Austen Jr., of plastic and reconstructive surgery at Massachusetts General Hospital.
Haining says she was tired of doctors who suggested that she learn to accept a lifetime of pain, pills, and shots, and was relieved to find a doctor who offered to treat the cause of the migraine and not just the symptoms. “When you are debilitated and life comes to a halt, you are willing to try what’s out there.’’
In the operating room at Mass. General, Austen began surgery on Haining by making an incision in one of her eyelids in what would appear to be a routine blepharoplasty, a cosmetic surgery known as an “eyelid lift.”
Haining would benefit cosmetically by removal of this globular flat that settles into each eyelid with age. But the point, Austen says, is that this particular procedure provides “easy access” to the critical sensory nerves around her eyes that he believes were causing migraine pain.
This was just one of the three trigger points that Haining identified prior to surgery, and as he operated, Austen would be seeking a structural reason for that pain, a nerve compressed or impinged by surrounding bone or soft tissue.
This surgical approach was developed 12 years ago by Dr. Bahman Guyuron, chairman of the plastic surgery department at University Hospitals Case Medical Center in Cleveland, after several of his plastic surgery patients reported that their migraines improved after a cosmetic procedure known as a forehead lift.
A study published in the journal Plastic and Reconstructive Surgery in 2009 — led by Guyuron and submitted by Case Western Reserve University, the American Migraine Center, and the Center for Headache and Pain, Cleveland Clinic — found that just under 85 percent of patients who underwent the nerve decompression surgery reported at least a 50 percent reduction in migraine, calculating pain, frequency, and duration. Nearly 60 percent (28 of 49 patients) reported a complete elimination of pain. This compared with only 1 of 26 patients who had a sham surgery, in which the surgery was limited to exposure of the nerve but muscle and attachments were left intact. Reported side effects included forehead numbness, temporary hair loss and itching, a slight hollowing of the temple, and small change in eyebrow movement.
Sound too good to be true?
Dr. Paul Mathew, neurologist at Harvard Medical School and fellow graduate of the 2014 AAN Palatucci Advocacy Leadership Program says yes….
In his recently published review on the subject, Dr Mathew explains that these surgeries are unproven, risky, expensive ($10,000-15,000) and are often not covered by medical insurance. “Many patients have no or temporary benefits from the surgery and still wind up on long term narcotics”, he says, and furthermore “These procedures have made their way into mainstream medicine without adequate investigation”. This is why he has decided to make this subject the focus of his future advocacy efforts.
Click here to read the paper.
Click here to find out more about migraine.