Personalized Medicine

“Individualized or personalized medicine provides a genomic blueprint to determine each person’s unique disease susceptibility, define preventive measures and enable targeted therapies to promote wellness.” (Mayo Clinic)

 

Attacking fronts in personalized medicine (Mayo Clinic):

  1. Pharmacogenomics
    • studies patient response to drugs, induced by the genetic profile of the individual
    • correlates gene expression or(?) SNPs with the effect of administering a specific drug
    • aim is to develop a systematic means to optimize drug therapy, w.r.t the genotype of the patient, to ensure maximum efficacy with minimal adverse effects (wiki)
  2. Clinomics
    • aims at developing relevant tests for patient care, based on the analysis of integrated data from different -omics together with the patient’s clinical data(Mayo)
    • is a collaboration between physicians, genetic counselors, laboratorians, bioinformaticians and bioethicists
    • works on next-gen sequencing, whole-exome/genome sequencing data (Mayo), mRNA, metabolites and proteins (wiki)
    • includes translational research — transforms scientific discoveries arising from laboratory, clinical, or population studies into clinical applications to reduce cancer incidence, morbidity, and mortality. (TRWG)
  3. Biomarker discovery (wiki)
    • discover new biological process patterns at the molecular level, be it normal process, pathogenic or pharmacological response to treatment
    • relies on the assessment of measurable characteristics s.a. the concentration of certain molecules(e.g. blood test), measurement of certain activity(e.g. electric activity at the brain level), etc.
    • in Europe – Biomarkers for patient stratification
  4. Epigenomics (wiki)
    • analyze the genomic landscape at the global level, in search for modification which cannot be attributed to DNA alteration at the primary level and which will cause phenotipic plasticity at the cell level
    • due to variations in cell gene expression, induced by the so far identified mechanisms of DNA methylation and histone modification
    • uses techniques s.a. ChIP-Seq, ChIP- Chip, DNA Methylation/Histone modification assays
  5. Microbiome (wiki)
    • explores a new source of phenotypic information, provided by genomic studies on entire communities of microbes which exist within an organism, in symbiosis with it – the forgotten organ

Resources:

For more related topics follow -> Personalized medicine lecture biochem2013

For more related topics follow -> Personalized medicine from Michel Dumontier

Events:

 

Shin Splints

It has been a year now that this issue is marking my days, so I’ll just put together this general overview on the topic, which confirms my experiences.

Definition
Shin splints is a general term to describe pain in the lower leg. This can range from anything from tendinitis, stress fractures, muscle strains or compartment syndrome. Typically when athletes refer to “shin splints” they are talking about pain along the medial (inside or front) part of the bone in the lower leg (tibia) especially during and after running.  The medical term for this condition is Medial Tibial Stress Syndrome (MTSS).

 

Cause
MTSS is caused by repetitive micro-trauma. This is common in running sports such as basketball, running, soccer, and gymnastics. This problem is usually the result of lower leg muscle weakness ( seen as the overall effect of all the muscles working in synergy at this level of the leg), overexertion of the lower leg muscle due to running on hard surfaces or extensively on the toes, or by sports that involve jumping, shoes with little support/cushioning and over training.  Improper striking of the foot can also lead to this condition (over pronated feet or high arched feet can also cause shin splint discomfort because this foot type is a poor shock absorber).MTSS usually starts as only causing a dull ache after activity, in the mid region of the tibia.  Small bumps and tender areas may become evident adjacent to the shin bone and if not addressed (rest first of all, icing, a medical examination to determine what could cause the abnormally placed stress on the bone), the pain will reappear before activity, while warming up, and after activity, once the muscles cool down. It can quickly escalate up to pain before, during, and after activity causing pain such that it is debilitating enough for the athlete to not be able to do any activity (e.g. not even biking and hurt during an easy walk).

Typically the pain associated with MTSS is a result of the posterior lower leg muscles “pulling” on the bone. The outer layer of the bone is highly innervated with nerves so is very sensitive to this pulling.  Excessive tightness in these muscles will result in more irritation of the bone and more pain.  Ruling out a stress fracture is important, however sometimes the stress fracture will not show up on X-rays and either a bone scan or MRI is needed to see the stress fracture.

There is a difference between a stress fracture and a stress reaction as well.  A stress reaction is the result of the bone breaking down more than it is rebuilding itself.  This will show up as a “hot spot” on an MRI or bone scan but there is not a crack in the bone.  When the condition has progressed to the level of a stress fracture, there is a definitive crack in the bone with an MRI or bone scan.

Prevention
Strengthening the lower leg and foot will help with shock absorption and overuse problems associated with the weakness of these areas.  Stretching out the calf and the Achilles tendon will also allow for good shock absorption and allow a normal/proper gait and will take unneeded stress off improper areas. Wear footwear with good shock absorption, and avoid running on hard surfaces or excessive running or jumping on the ball-of-the-foot. Insoles or orthotics that offer arch support for over-pronation are also important.

 

Treatment and Management
Rest is crucial.  Rest allows the bone and muscles time to heal and rebuild from the repetitive micro-trauma.  Being able to cross-train by supplementing running with biking, elliptical or water workouts is a great way to maintain cardiovascular fitness.Icing the area immediately after running or other exercise can also be effective, along with gentle stretching before and after training. Another option is taking aspirin or ibuprofen to relieve pain and reduce inflammation(I personally dislike taking anti-inflammatories, but in this case they are necessary to help reducing the inflammation –might want ot consider talking along some stomach protection as well).

It is important not to try to train through the pain of shin splints. Runners should decrease mileage for about a week and avoid hills or hard surfaces. If a muscle imbalance, poor running form or flat feet are causing the problem, a long-term solution might involve a stretching and strengthening program and orthotics that support the foot and correct over-pronation. In more severe cases, ice massage, electrostimuli, heat treatments and ultra-sound might be used.

Studies show that extra-corporeal shockwave therapy (ESWT) proves to be useful in stubborn cases. It acts as a reminder for the body that there is an injury still lingering around, that needs healing.

 

Rehab exercises for shin splints
Calf Stretching (30 seconds with straight-leg, then with bent knees):
  • stand on a slant board (or alternatively position your toes on the edge of a stair and lover the heel — pay attention not to slip off the stair!)
Calf Strengthening and balance(good for Achilles’ tendon) (3×10 on each leg):
  • position the ball of the foot on the edge of a stair and sink the heel (like above), then raise up on your toe tips
Heel Walking (2 laps of 10m): strengthens the muscles in the front of the lower leg
  • keep toes off the ground and walk on the heels over the whole exercise
Toe Walking (2 laps of 10m): strengthens the muscles on the back of the lower leg and toes
  • walk on your toes forward and backward, by keeping heels off the ground
Foam/Marble/Straw pick-up* (3x): strengthens muscles of the feet and toes to help absorb shock from impact with the ground
  • pick up the pieces off the ground and place them back into their bins
Towel Toe Grab* (10 repetitions, relaxing your toes between reps. on each leg): strengthens the muscles that raise the longitudinal arch of the feet
  • Sit with good posture and both feet on the floor in front of you, a small towel under your right foot. Curl your toes and grab the towel between your toes and forefoot, while raising the arch of your foot off the floor.
Ankle Theraband (3×12): strengthen all the muscles of your lower leg
  • grab a rubber rehab band and wrap it around your toes. Then do the following 4 movements –point the toes: straight up towards the shin, down and inside towards the other leg, up and outward away for the other leg and straight down
Ball toss on a soft, flexible surface (10x on each leg): strengthen muscles of lower leg and improve balance
  • stand on one leg on a surface were you can slightly lose balance, bend the knee by keeping it over the ankle and pushing it outwards so that there’s no strain on the shin, and toss the ball against smth that will bounce it back and catch and repeat
Before performing these exercises, heat up your lower leg with a hot-tubs or hot-packs and cool it down after practice with ice-packs or cold-tubs. This way your blood flow improves. Do not forget to stretch your calves and the front muscles after practice!!!  during the day is beneficial as well.

 

*exercises for over pronation

 

Resources: (that I almost completely reproduced here, but found them to be a comprehensive summary for the issue)

 

TED Talks

This is a (hopefully growing) collection of talks that I found interesting, but since I don’t have too much time to browse them, I’d be very happy to have your suggestion on other interesting talks!

   Thanks!!