Cobblestone lissencephaly-MRI
Cobblestone lissencephaly encompasses a large group of neuronal migration disorders resulting from overmigration of neurons beyond the developing cerebral cortex, passing through defects of the glia limitans into the subarachnoid space. This aberrant migration produces irregular neuronal ‘cobblestones’ (ectopia) on the surface of the brain and is a feature of three distinct human disorders of varying severity: Walker–Warburg syndrome (most severe); muscle eye-brain disease and Fukuyama congenital muscular dystrophy (least severe). Reference : Brain 2010: 133; 3194–3209
From Sumer's Radiology Site http...
Source: Sumer's Radiology Site - July 30, 2013 Category: Radiologists Authors: Sumer Sethi Source Type: blogs
Pharmalot... Pharmalittle... Good Morning
Rise and shine. Another busy day is on the way. And while there are cloudy skies hovering over the Pharmalot corporate campus this morning, our spirits remain sunny. You know why, yes? As the Morning Mayor would say: Every brand new day should be unwrapped like a precious gift. We have not repeated this for awhile, so we thought it is time to do so. Meanwhile, whlie you tug on the ribbon, have a cup of stimulation on us. And, of course, here are your tidbits. Have a smashing day and thanks to those who have reached out with interesting information...
Bristol-Myers Scraps Forecast As New Bloodthinner Struggles (Reuters)
Lon...
Source: Pharmalot - July 25, 2013 Category: Pharma Commentators Authors: esilverman Source Type: blogs
The NIH's Drug Repurposing Program Gets Going
Here's an update on the NIH's NCATS program to repurpose failed clinical candidates from the drug industry. I wrote about this effort here last year, and expressed some skepticism. It's not that I think that trying drugs (or near-drugs) for other purposes is a bad idea prima facie, because it isn't. I just wonder about the way the way the NIH is talking about this, versus its chances for success.
As was pointed out last time this topic came up, the number of failed clinical candidates involved in this effort is dwarfed by the number of approved compounds that could also be repurposed - and have, in fact, been looked at fo...
Source: In the Pipeline - July 22, 2013 Category: Chemists Tags: Clinical Trials Source Type: blogs
Dr. Mike Lawlor's Proposed Muscle Biopsy Checklist
Comment are encouraged!!!! Clinical History1. Gender of patient: __male ___female2. Age at presentation: _ _ years _ _ months3. Age at biopsy: _ _ years _ _ months4. Symptoms at presentation (check all that apply): Weakness Hypotonia Muscle pain Cardiac disease Central nervous system disease Respiratory difficulties Contractures Failure to thrive Others (see item 8)5. Elevated creatine kinase: Yes No Unknown _______ Patient Value _________(Normal Range)6. Familial Inheritance:____None &nbs...
Source: neuropathology blog - June 28, 2013 Category: Pathologists Tags: muscle Source Type: blogs
Pharmalot... Pharmalittle... The Weekend Nears
And so, another working week is about to draw to a close. Not a moment too soon, yes? As you know, this is our treasured signal to daydream about weekend plans. Once again, the agenda is modest. We expect to tidy up around the mansion, catch up on some napping and hang with assorted short people. We may also treat ourselves to a delectable meal. And what about you? Summer is here, so perhaps the time has come to enjoy the great outdoors. Or you could plan a cool getaway somewhere relaxing. And what about catching up with some favorite people? You know, enjoy life. Well, whatever you do, have a grand time. But be safe. See ...
Source: Pharmalot - June 28, 2013 Category: Pharma Commentators Authors: esilverman Source Type: blogs
Hack a Day Video Game Controller for Disabled Players
Video games are a great way for disabled kids to get their entertainment on and feel empowered in the virtual worlds they like to inhabit. Yet, controllers designed for people with disabilities, and especially custom built ones, can be prohibitively expensive. Caleb Kraft, a hacker extraordinaire, realized that tinkerers like him can create cheap controllers from off-the-shelf components specifically designed for individual users. Here he is presenting a project he built for a boy with muscular dystrophy who has a penchant for Minecraft: Read More » (Source: Medgadget)
Source: Medgadget - June 21, 2013 Category: Technology Consultants Authors: Editors Tags: Rehab Source Type: blogs
Bumps In The Pavement
There have been a few of those over the past couple of weeks. I haven't been handling stress well lately for some reason, and it has manifested itself my being irritable around those people that mean the most to me. I feel badly about that. By writing about it here, I guess I'm admitting that I am no different than anyone else in that I experience periods of human weakness.
Over the past few weeks, Martha has had surgery to repair a problem with one of her knees and has had to deal with complications, my mother's condition continues to deteriorate steadily, and we found out earlier this week that the property our house is...
Source: Life in Manch Vegas - June 20, 2013 Category: Ambulance Crew Source Type: blogs
Telomere Length: Cause of Aging or Marker of Aging?
Telomeres are repeating sequences of nucleic acids that cap the ends of chromosomes in the cell nucleus and stop actual gene-coding DNA from being chopped off when a cell divides. The mechanisms of DNA replication require extra leg room at the ends of the strand, a trailing sequence that is not copied over to the new strand under assembly - and the primary role of telomeres is to be the part that is dropped on the floor. A little of their length is thus lost with every cell division. This shortening acts as a clock to count cell divisions, and cells with very short telomeres stop replicating - they either enter cellular se...
Source: Fight Aging! - May 14, 2013 Category: Health Medicine and Bioethics Commentators Authors: Reason Tags: Medicine, Biotech, Research Source Type: blogs
Disruptor Profile: Jayne Mackta
I can’t remember how or when I met Jayne Mackta, but I’ve always been grateful I did and I hope you’ll agree when I introduce her to you today.
Jayne is an entrepreneur, pursuing the kinds of niche needs that – at their core – are the underpinnings of the discoveries in biomedicine that we depend upon to heal us when we’re ill. She’s one of many, I’m sure, but is one of the best (I’m sure of that, too). She not only works in the ‘trenches,’ but often goes there first and digs them herself to support the many others who will come later.
Her most recent effort, Curious Young Writers, is the latest of h...
Source: Disruptive Women in Health Care - May 7, 2013 Category: Health Medicine and Bioethics Commentators Authors: dw at disruptivewomen.net Tags: Uncategorized biomedical research Genetic Alliance Source Type: blogs
PhRMA Report: Over 5400 Medicines in Development and 70% are First in Class
According to report released by PhRMA, companies have more than 5,400 medicines in development globally, and more than 70% of therapies in the pipeline are potentially first-in-class and could offer patients new treatment options, and a notable number of potential therapies target diseases with limited treatment options such as ALS and rare diseases. A breakdown of their report offers insight into the various medicines in development for different diseases and populations.
Older Americans
America’s biopharmaceutical research companies are developing 465 new medicines that target the 10 leading chronic conditi...
Source: Policy and Medicine - April 24, 2013 Category: Health Medicine and Bioethics Commentators Authors: Thomas Sullivan Source Type: blogs
Loved this photo album
http://imgur.com/a/YjHXNhttp://www.huffingtonpost.com/2013/04/17/little-prince-matej-peljhan-photos_n_3102439.html "In a photo series entitled "The Little Prince," Matej Peljhan, a Slovenian photographer, brings Luka's imagination to life by including the 12-year-old in a variety of lifelike scenes." (Luke has muscular dystrophy) (Source: Occupational Therapy Students (B)e(LO)n(G))
Source: Occupational Therapy Students (B)e(LO)n(G) - April 19, 2013 Category: Occupational Therapists Source Type: blogs
USMLE Questions – Characteristic Disease Findings
The United States Medical Licensing Examination (USMLE) is designed to emphasize knowledge of clinical scenarios and clinical pearls, even on Step I. Listed below are some commonly encountered disease findings and characteristics.
Feature
Disease
45, X chromosome
Turner’s syndrome
5-HIAA increased in urine
Carcinoid syndrome
Aganglionic rectum
Hirschsrpung’s disease
Apple-core sign on barium enema
Colon cancer
Arched back (opisthotonos)
Tetanus
Argyll-Robertson pupil
Syphilis
Ash leaf on forehead
Tuberous sclerosis
Auer rods
Acute myelogenous leukemia
Austin Flint murmur
Aortic regurgitation...
Source: Inside Surgery - January 18, 2013 Category: Surgeons Authors: Editor Tags: Surgpedia USMLE diseases findings VMA water hammer pulse Source Type: blogs
Gene And Cell Therapies Against Duchenne Muscular Dystrophy
A pair of reports demonstrate gene therapy and cell therapy benefits in animal models of the genetic muscle disease Duchenne Muscular Dystrophy (DMD). A gene therapy that introduces a subset of the dystrophin gene (which is defected in DMD) boosted muscle force in dogs. "We placed the new microgene into a virus and then injected the virus into dystrophic dogs' muscles," Duan said. Following gene therapy, Duan's team examined the dogs for signs of muscle disease and measured muscle force in treated and untreated dogs. After careful evaluation of 22 dogs, Duan and colleagues found that the new version of micro-dystrophin not...
Source: FuturePundit - January 16, 2013 Category: Health Medicine and Bioethics Commentators Authors: Randall Parker Source Type: blogs
Karen: Tribute to Life of Girl with Muscular Dystrophy
After four or five months of growth we noticed that she was kind of slow and were told that she had Muscular Dystrophy (Source: Disabled World Blogs)
Source: Disabled World Blogs - February 24, 2011 Category: Disability Tags: Blogs - Writings - Stories Source Type: blogs
ICER Recommending Eugenics for Kids With Duchenne Muscular Dystrophy
(Source: drugwonks.com Blog)
Source: drugwonks.com Blog - September 6, 2007 Category: Pharmaceuticals Source Type: blogs
