“Four Common Genetic Variants Associated With Blood Pressure”

Experts have investigated new discoveries involving genes and their associations with blood pressure. Genes are found within the nucleus of a cell and are the hereditary units that control cellular structure and direct cellular activity. The study was performed by the “Continental Origins and Genetic Epidemiology Network”, where they took a closer look into the ancestry of African-Americans. Most studies have been performed on humans of European ancestry.

Through reading the science article, I learned that scientist have discovered four novel gene variations.  Our genetic make-up influences many conditions of the human body such as hypertension. Hypertension is a medical condition of high blood pressure The 19-site meta-analysis is using nearly 30,000 African Americans in order to learn more about the gene mutation an its link to blood pressure.  The studies are ongoing and using human blood samples to help give scientist a better understanding of the gene functions and how the gene mutations are linked to hypertension Hypertension is a dangerous health problem that affects many people of all races and it can lead to other more fatal and complicated health problems. Still in its early trials of discovery not much was said to what all they had found, but hopeful that it will lead to further break threw on blood pressure issues among different nationalities.

Even though the studies are not completed yet, the hope is that scientists can target the gene mutations that cause high blood pressure. They could also discover new drugs that would better treat the condition. This study helps give an understanding not only to hypertension in African-Americans but may help find the gene in other nationalities where new treatments and better drugs can produce more efficient results.

Kethanne K. Colich

http://www.sciencedaily.com/releases/2013/09/130910112819.htm

Tortora, Gerard J and Derrickson, Bryan. Principles of Anatomy & Physiology. 13th. 2011.Print.

Pediatric CT Scans

Medical imagining is one way healthcare specialists can diagnose patients, including children. One type of these medical imagining scans is called a CT scan or computed tomography scan. A CT scan can see organs and soft tissues with much more detail than some other types of radiographs (Tortora). Even though these scans are more detailed than some, it does not necessarily mean they are better. These CT scans expose the body to a large does of harmful radiation. Which poses the question, are CT scans more helpful or harmful?

In a recent study, researchers have found that the use of CT scans of the head, abdomen/pelvis, chest, or spine in children under the age of 14 has more than doubled from 1996 to 2005. This news has shown that the radiation associated with this scan has the potential to increase radiation-induced cancer in children. Researches estimate that these pediatric CT scans, while helpful for diagnosis, could potentially cause 4,870 future cancers by these 4 million scans per year (American).

Researchers estimate by reducing 25% of doses to the midpoint we could possibly prevent 43% of these future cancers (American). Although this reduction would not cure childhood cancer it would certainly play a role in prevention. This research gives us insight into areas of healthcare we should improve on, such as finding/using a less harmful yet just as effective scan to decrease exposure to radiation. The ultimate goal is to save the lives of children, by being helpful and not harmful.

 

American Medical Association (AMA). “Study examines cancer risk from pediatric radiation exposure from CT scans.” ScienceDaily, 10 Jun. 2013. Web. 13 Sep. 2013.

 

Tortora G.J. and B. Derrickson. 2012. Principles of Anatomy and Physiology. 13th ed., John Wiley and Sons

Molecular Changes in Cancer Cells One Destination at a Time

The article, “New Evidence that Cancer Cells Change While Moving throughout the Body” gives an explanation on the drastic changes that occur in cancer cells. The National Cancer Institute gives us a vivid and accurate definition of what exactly cancer is by explaining that cancer cells are abnormal cells that divide without control, and they eventually invade tissues. Unfortunately, it is well known that cancer cells are not stationary to a certain region of the body. If the cells are not caught at an early stage, they will freely move to other areas of the body. This can be extremely harmful to cancer patients because their condition has a chance of worsening instead of improving. Metastasis, which according to the article, “New Evidence that Cancer Cells Change While Moving Throughout the Body,” is the spread of cancer cells from the primary tumor to secondary locations throughout the body. Metastasis is being researched and experimented on by scientists at Georgia Tech to learn more about the habits of these busy cells so that more cures can be made.

The article about Georgia Tech’s recent findings then goes on to tell about how a cell begins to molecularly change as it leaves its first destination and travels to the ones thereafter in the body. The proper name for the ways of these cells is EMT, or epithelial-to-mesenchymal transition. Unfortunately, as these cells travel more and more, they leave behind the ability to work with chemotherapy because of their new being. From a macroscopic level, the changes are not visible; however, when viewed more closely, one will see that the molecular aspect has definite signs of change. According to the article, careful research shows that doctors should not only prescribe their cancer patients with medications that will kill cancer cells, but also medications that will put a stop to the cells that travel throughout the body. Because it is now known that these cells on the move are not working hand-in-hand with chemotherapy, scientists and researchers are having to develop a more up to date version of chemotherapy that will fight against these resistant cells.

The topic I chose is one that can relate to most likely any individual in one way or another. I say this because almost everyone has a loved one battling cancer or knows of someone who is battling it. It is important to have an understanding of how things work, cancer cells particularly. Reading and writing on this topic gave me a clearer understanding of how cancer cells develop. Because of this, I know it will provide others with the same knowledge and understanding that it provided me.

 

New Evidence that Cancer Cells Change While Moving throughout Body. Georgia Tech., 12    Aug. 2013. Web. 12 Sept. 2013.

What is Cancer? National Cancer Institute at the National Institutes of Health., 08 Feb. 2013. Web. 12. Sept. 2013.

 


Cause of Ehlers- Danlos Syndrome

Connective tissues are responsible for many everyday functions and also for protection of internal structures.  It is the most abundant type of tissue found in the human body.  Connective tissue has a high rate of healing when the damage is considered small (Tortora). However, not all connective damage can be easily fixed. It can be damaged by genetic disorders, or diseases acquired later in life.  Some of these disorders may be harmful or even deadly such as Ehlers-Danlos syndrome. The real question at hand is, what causes diseases like Ehlers-Danlos syndrome?

In a study, researchers have found a gene that may answer this question about Ehlers-Danlos syndrome (RIKEN). Ehlers-Danlos syndrome affects many areas of connective tissues such as the blood vessels and joints.  It can cause blood vessels and intestines linings to explode or tear.  This syndrome is genetically passed down from generations (Mayo). Studies found that B3GALT6 mutations can cause this syndrome. B3GALT6 is a gene that helps encodes for enzymes.  The researchers came to the conclusion that a B3GALT6 is a requirement for the growth and development of connective tissues.  In addition, it was found that this affects ligaments, bones, and many more internal areas (RIKEN).

The research has not provided a cure for this harmful disorder of connective tissue.  However, this study has placed science in the right direction for cures.  This study will help individuals and his/her families be able to cope with the disorder.  On a brighter note, the science community can build upon this discovery to find the cure for Ehlers-Danlos syndrome.

 

Mayo Clinic Staff, . “Ehlers-Danlos Syndrome.” Mayo Clinic. 2013. Web. 12 Sept. 2013. <http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706>.

RIKEN. “Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue.” ScienceDaily, 9 May 2013. Web. 12 Sep. 2013.

Tortora G.J. and B. Derrickson. 2012. Principles of Anatomy and Physiology. 13th ed., John Wiley and Sons

 

 

Ultrasound scanning used to alter moods

Ultrasound scanning is a procedure that uses high-frequency sound waves to view images from the inside of the body. Since this procedure is remarkably safe and painless, it is commonly used to monitor fetal development during pregnancy. While it is mostly used for pregnancies, it is also used to observe size, location, and actions of organs and blood flow through blood vessels. From the time the ultrasound was created, there have been many improvements in the way it is used today.

Dr. Stuart Hameroff is the creator of the first clinical study of brain ultrasound; it was published May 2013 in the journal ‘Brain Stimulation’. Dr. Hameroff became intrigued with the idea after he read about a study done by Dr. Jamie Tyler, who discovered physiological and behavioral effects in animals after ultrasound scanning was applied to their scalps. Dr. Hameroff knew that ultrasound vibrates at about 10 million vibrations per second and that proteins inside brain neurons were involved in mood and consciousness. With this knowledge, he wanted to study this theory on human brains, beginning with himself. After holding an ultrasound transducer to his head for 15 seconds, he began to doubt his theory, until one minute later. After doubting the possibility, he started to feel as if he’d had a martini. His mood was evaluated for the next hour or two. He figured it was just a placebo effect, so he tested 31 chronic pain patients in a double-blind study in which the clients did not know if the ultrasound unit had been turned on or off. After the tests, Dr. Hameroff concluded the placebo effect was not true. The patients reported improvements in their mood for up to 40 minutes, compared to no difference in mood when the machine was turned off.

Because ultrasound vibrations applied to the brain can affect moods, it could mean new treatments for psychological, neurological, and psychiatric disorders. It could also be used to treat anxiety and depression. Ultrasound scanning may provide a range of new applications of ultrasound in medicine. “The idea is that this device will be a wearable unit that noninvasively and safely interfaces with your brain using ultrasound to regulate neural activity”- Dr. Sanguinetti.  Although ultrasound scanning is usually used for imaging, it could be used for treating these disorders as long as you avoid excessive exposure and heating. Because of this new discovery, ultrasound scanning could create a new future for healthcare.

 Gerard J. Tortora and Bryan Derrickson. Principles of Anatomy and Physiology. 13th ed. (lecture notes also).

 http://www.sciencedaily.com/releases/2013/07/130718161525.htm

Developing Learning Behaviors in Autism

Autism is a neurological disorder that affects how the brain collects information and organizes it between the synapses in the brain.  Autism can cause severe delays in communication, social interaction, and disabilities in learning information.   Some characteristics of Autism are repetitive behavior, decreased eye contact, unresponsitivity to some emotions, and decreased nonverbal communication. (1)  The diagnosis of autism is on the rise due to the awareness and the age (typically before three years) in which symptoms start becoming recognizable. Since autism is a developmental disorder, a preferred method of treatment is educational curriculum for both family and the individual.

Geraldine Dawson has developed a curriculum to help bridge the learning gap of children with mild autism.  The Early Start Denver Model consists of children who are 18 months old and work with trained counselors twice a day for two hour sessions, five days a week.  Once these individuals received two years of training, their IQ was tested.  Findings showed an average improvement of 17.6 points. This led Dawson to theorize that since there was an improvement in IQ, there must also be an improvement in brain activity.  Dawson selected a group of 48 toddlers with autism who were between the ages of 18 months and three years of age.  The group was divided into 2 controlled groups in which one trained using the ESDM while the other was trained with traditional educational methods. Electroencephalography readings were taken of each group after two years of training.  Most findings report that the brain becomes highly active when looking at a toy versus a human face.  However, individuals who received the ESDM showed exact opposite.  The results closely resembled the brain waves of an individual that is not diagnosed with autism. (2)

Autism affects not only the individual but the family as whole.  This curriculum offers hope to improve the learning and recognition factors associated with this developmental disorder.  It also helps the science community to display the plasticity of the brain and how it can be redirected toward normal development.  ESDM can offer an individual with autism a better way to communicate and recognize different individuals, as well as improve their learning capabilities.  Unfortunately, it is not a cure, but a very effective tool to improve the overall lives of families affected.

 

  1. Wikipedia, the free encyclopedia. Wikimedia Foundation, Inc. Web. 26 June 2013. http://en.wikipedia.org/wiki/Autism#Management .
  2. Park, Alice. “Behavior Therapy Normalizes brains of Autistic Children”.  Time Magazine Health & Family. 26 October 2012. Web. 26 June 2013. http://healthland.time.com/2012/10/26/behavior-therapy-normalizes-brains-of-autistic-children/ .

Interstitial cystitis

Interstitial cystitis can be defined as a condition of the bladder in which symptoms closely reflect those of a typical bladder infection or urinary tract infection.  These symptoms consist of frequent and urgent urination as well as moderate pain/ pressure in the lower pelvic area. (1)  There is no known cure for IC, but there are different treatment methods.  IC varies from patient to patient making it hard to pin point the causes of this diagnosis.  However, physicians have found a common link in stress/hormonal and genetic triggers that can flare up the symptoms of IC.

Treatment methods include adhering to a diet low in acidic foods such as tomato based products, alcohol, chocolate, and caffeine. Others also monitor stress triggers as well as menstrual cycles.  Female patients with IC have reported a decrease significantly in their symptoms while breastfeeding.  Physicians theorize that this is due to a decreased level of stress that is associated with women while breastfeeding.  Thus they are testing whether or not oxytoxin can help relieve the symptoms associated with patients who have IC.  Dr. Meredith Robbing of the University of Birmingham is currently testing 50 patients with an intranasal 40 mg spray of oxytoxin or saline nasal spray as the placebo.  Oxytoxin is typically used to relieve pain but it is also known to help relieve anxiety. (2)

Treatment varies from person to person due to differing stages of I.C., ulcerative or non ulcerative I.C., as well as drug allergies.  Some medication can be directly administered into the bladder, other methods use antihistamines, homeopathic remedies, as well as anti depressants. (1)  Severe cases require surgery in conjunction with physical therapy.  If this treatment proves effective it will be the first methods to treat IC via intranasal.  Not only would it would be a first of its kind, but it would be a solution a more convenient and cost effective treatment of a condition that has no cure.

 

  1. Interstitial Cystitis Association. Diagnosis & Treatment. 16 June 2010. Web. 25 June 2013.www.ichelp.org.

 

2.Robbins, Meredith, PhD. “Intranasal Oxytocin for the Treatment of Pain Associated With Interstitial Cystitis.” 25 Febuary 2013.   Web.   26 June 2013. http://www.clinicaltrials.gov/ct2/show/NCT00919802.

 

Plasmapheresis offers short-term relief for Myasthenia Gravis

Myasthenia gravis is an autoimmune, neuromuscular disorder.   Myasthenia gravis causes weakness and/ or fatigue of any voluntary muscle.  Ususally swallowing, facial expression, and movement of eyes are affected by myasthenia gravis.  Long-term treatment is oral medications that include corticosteroids.  When a person is in a myasthenic crises, they may not be able to swallow or have difficulty breathing.  A quick solution must be found to reverse a myasthenic crises or death may quickly occur.

When myasthenia gravis occurs, neuromuscular transmission is disrupted because of decreased receptor numbers.  The decrease of receptors is a result of binding antibodies to nicotinic acetylcholine receptors located on the post-synaptic membrane of the neuromuscular junction.  As many as 30-95% of myasthenia gravis patients are seropositive for immunoglobulin G AChR antibodies.  If a person receives treatment by plasmapheresis and a decrease in the antibody titre occurs, the symptoms will improve and short-term relief is achieved until the plasma antibodies rise again.

(Plasmapheresis is the process of removing the plasma and antibodies from whole blood.  RBC are returned to the body.  The process typically occurs in about an hour and saline is administered to replace the fluids lost through the apheresis process.)

Using plasmapheresis to remedy a life-threatening event such as myasthenic crises makes the process affordable and a reality for those suffering from myasthenia gravis.  The industry of plasmapheresis has so much to offer our evolving biologics research and treatment world through the process itself and through its use in pharmaceuticals.  Many studies are using the immunoglobulins from refracted plasma to build new medication therapies for chronic illnesses.  Plasmapheresis is a popular way to obtain life saving immunoglobulins that can be given in forms of medication or transplanted directly to patients to remedy sickle-cell crises and burns.  Maybe in the future studies and new technology of the apheresis process could include a way to give myasthenia gravis a periodic (daily, weekly) treatment for long-term needs.

Works cited:

“Myasthenia gravis”, Mayo Clinic Staff.  mayoclinic.com http://www.mayoclinic.com/health/myastheniagravis/DS00375.  26 JUN 2013, 11:14pm.

“Treatment Alternatives in the Successful Management of Myasthenia Gravis”.  Drugs and Therapy Prospectives, Medscape News Today.  27 Jun 2013,  7:53 am.  http://www.medscape.com/viewarticle/434482.

 

 

 

 

Intractable Tourette’s Syndrome shows response to neurosurgery.

Tourette’s Syndrome (TS) is a chronic neuropsychiatric disorder.  There are no two TS patients with the same set of symptoms that include simple and complex motor and vocal tics.  There are also differences in duration and severity of the tics.  Simple motor tics usually affect only one muscle group and complex motor tics are more abrupt and affect simple movement and coordinated sequences of movement.  Intractable TS patients have many complex motor tics and are found to be harmful to themselves if they are great in severity.

After careful evaluation of TS patients, their outcome of problem severity and resulting impairment, some patients may be candidates for neurosurgical treatment called a bilateral limbic leucotomy.  The surgery entails making lesions in the lower medial quadrants of the frontal lobes in the brain.  One patient showed progress with reduction of symptoms within 2 days of surgery and compulsions disappeared within 6 weeks.  The patient is then no longer a damger to themselves and can live a more normal lifestyle, with much less degree of syndrome symptoms.

With the many neurosurgical advances in the medical world and the new knowledge of the syndrome’s physiology we can see that there are promising outcomes from surgical techniques.  All patients with chronic illnesses need treatment plans with realistic outcomes to meet their basic needs of daily life.  The bilateral limbic leucotomy has now shown that severe Tourette’s symptoms can be alleviated through manipulation of the frontal lobes.  Hopefully this will not be a costly procedure as it evolves to a process performed more often and possibly to help alleviate more minor syndrome patients with further studies.

Works Cited:

http:www.hopskinsmedicine.org/conditions/nervous sytem.html

“The treatment of Guilles de la Tourette syndrome by limbic leucotomy”, M Robertson, M Doran, M Trimble, AJ Lees. Journal of Neurology, Neurosurgery, and Psychiatry 1990; 53: 691-694.

Anatomy and Physiology: The Unity of Form and Function, 5th ed: Saladin. McGraw-Hill, New York 2010.

 

Human Epidermal Cell Growth In Lab Proves to be Answer to Diabetic Integumentary Ulcers

Diabetes is a growing epidemic in the United States.  The complications from this chronic illness include a decrease in peripheral circulation and healing is slow, therefore there is increased risk for infection.  The legs and feet are usually areas diabetic ulcers can occur.  In many cases amputation results because of non-healing, infected wounds.

Apligraf, a product made by Organogenesis, is a bi-layered, living cell based product and the only FDA approved product to heal leg and foot ulcers suffered by diabetics.  It contains living cells and structural proteins that mimic the epidermis and dermis.  This small, pink specimen is applied directly to a freshly debrided, medication free, cleaned wound.  It does not overlap the healed skin of the patient and if large enough wound, may need more than one application.  Once applied the first wound dressing remains on for 5-7 days.  As the application takes hold and starts a healthy healing process, it will change in color too.

Today’s scientific technology of cell reproduction in the lab has evolved the combination of bovine fibroblasts, and infant foreskins to produce a solution to limb loss because of infection and chronic illness.  Although this product doesn’t completely replicate the true human skin because it doesn’t contain sweat glands, blood vessels, hair follicles, melanocytes, macrophages, or lymphocytes,  it does help people speed up recovery from diabetic ulcers.  Ultimately this is a “fix” and not a desireable predicament to have to incur.  Many preventative measures can be taken by the aging diabetic to care for blood sugar levels, proper foot and skin care, and regular consultation with a health care team.  Apligraf was an amazing and exciting treatment I have personally witnessed in a clinical setting with wound care professionals at a local public hospital.  I was amazed at the technology we have used resourcefully to produce.  It makes you wonder how close we are to making this a new part of bionics.

www. organogenesis.com

“Wound Facts & Prevention”Apligraf: add life to healing.  26 Jun 2013 1:00pm. www. apligraf.com/professional/wound_facts_and_prevention/index.html