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Genetics of Colorectal Cancer – National Cancer Institute

July 16th, 2015 6:45 am

Introduction

[Note: Many of the medical and scientific terms used in this summary are found in the NCI Dictionary of Genetics Terms. When a linked term is clicked, the definition will appear in a separate window.]

[Note: Many of the genes described in this summary are found in the Online Mendelian Inheritance in Man (OMIM) database. When OMIM appears after a gene name or the name of a condition, click on OMIM for a link to more information.]

Colorectal cancer (CRC) is the third most commonly diagnosed cancer in both men and women.

Estimated new cases and deaths from CRC in 2015:[1]

About 75% of patients with CRC have sporadic disease with no apparent evidence of having inherited the disorder. The remaining 25% of patients have a family history of CRC that suggests a hereditary contribution, common exposures among family members, or a combination of both. Genetic mutations have been identified as the cause of inherited cancer risk in some colon cancerprone families; these mutations are estimated to account for only 5% to 6% of CRC cases overall. It is likely that other undiscovered genes and background genetic factors contribute to the development of familial CRC in conjunction with nongenetic risk factors.

(Refer to the PDQ summaries on Colorectal Cancer Screening; Colorectal Cancer Prevention; Colon Cancer Treatment; and Rectal Cancer Treatment for more information about sporadic CRC.)

Colorectal tumors present with a broad spectrum of neoplasms, ranging from benign growths to invasive cancer and are predominantly epithelial-derived tumors (i.e., adenomas or adenocarcinomas).

Pathologists have classified the lesions into the following three groups:

Research, however, suggests increased CRC risk in some families who have multiple members affected with juvenile polyposis, Peutz-Jeghers syndrome, and hyperplastic polyposis.[2-4]

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Cadaver stem cells offer new hope of life after death

July 16th, 2015 6:44 am

Dead bodies can provide organs for transplants, now they might become a source of stem cells too. Huge numbers of stem cells can still be mined from bone marrow five days after death to be potentially used in a variety of life-saving treatments.

Human bone marrow contains mesenchymal stem cells, which can develop into bone, cartilage, fat and other cell types. MSCs can be transplanted and the type of cell they form depends on where they are injected. Cells injected into the heart, for example, can form healthy new tissue, a useful therapy for people with chronic heart conditions.

Unlike other tissue transplants, MSCs taken from one person tend not to be rejected by anothers immune system. In fact, MSCs appear to pacify immune cells. It is this feature which has made MSC treatments invaluable for children with graft-versus-host disease, in which transplants aimed at treating diseases such as leukaemia attack the child instead.

Stem cell therapies require a huge numbers of cells though, and it can be difficult to obtain a sufficient amount from a living donor. Could cadavers be the answer? After death, most cells in the body die within a couple of days. But since MSCs live in an environment that is very low in oxygen, Gianluca DIppolito and his colleagues at the University of Miami, Florida, wondered whether they might survive longer than the others.

To investigate, DIppolitos team kept the finger bones of two cadavers for five days. The group then extracted MSCs from the bone marrow of each bone and let them grow in a dish. After five weeks DIppolito was able to transform the stem cells into cartilage, cells that form bone, and fat cells. He presented the results at the World Stem Cell Summit in West Palm Beach, Florida, earlier this month. The team are now trying to get the cells to become nerve and intestinal cells, too.

While only limited amounts of bone marrow can be taken from a living donor, a cadaver represents a plentiful source of cells, says DIppolito. From one donor, you could take the whole spine, for example. You are going to end up with billions of cells.

Paolo Macchiarini, who researches regenerative medicine at the Karolinska Institute in Stockholm, Sweden, describes the work as an excellent advance but says that the cells may not be as healthy as they seem. Their DNA may be affected by the death of surrounding tissue and exposure to cold temperatures. We need to make sure the cells are safe, he says.

Corneal stem cells taken from the eyes of fresh cadavers have already been used to treat blindness in people with eye conditions that result from injury and scarring, but Chris Mason at University College London sees a potential hurdle in using such MSCs in therapy. The work is novel and intriguing but it would be better to use a living donor, he says. Thats partly because medical regulators oppose treating individuals with stem cells from more than one source. You can always go back and get more stem cells from a living donor if you need them, but if you use a cadaver, youll eventually run out.

By Jessica Hamzelou

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Reliability engineering – Wikipedia, the free encyclopedia

July 14th, 2015 9:48 pm

Reliability engineering is engineering that emphasizes dependability in the lifecycle management of a product. Dependability, or reliability, describes the ability of a system or component to function under stated conditions for a specified period of time.[1] Reliability engineering represents a sub-discipline within systems engineering. Reliability is theoretically defined as the probability of success (Reliability=1-Probability of Failure), as the frequency of failures; or in terms of availability, as a probability derived from reliability and maintainability. Maintainability and maintenance are often defined as a part of "reliability engineering" in Reliability Programs. Reliability plays a key role in the cost-effectiveness of systems.

Reliability engineering deals with the estimation and management of high levels of "lifetime" engineering uncertainty and risks of failure. Although stochastic parameters define and affect reliability, according to some expert authors on Reliability Engineering (e.g. P. O'Conner, J. Moubray[2] and A. Barnard,[3]), reliability is not (solely) achieved by mathematics and statistics. "Nearly all teaching and literature on the subject emphasize these aspects, and ignore the reality that the ranges of uncertainty involved largely invalidate quantitative methods for prediction and measurement." [4]

Reliability engineering relates closely to safety engineering and to system safety, in that they use common methods for their analysis and may require input from each other. Reliability engineering focuses on costs of failure caused by system downtime, cost of spares, repair equipment, personnel, and cost of warranty claims. Safety engineering normally emphasizes not cost, but preserving life and nature, and therefore deals only with particular dangerous system-failure modes. High reliability (safety factor) levels also result from good engineering and from attention to detail, and almost never from only reactive failure management (reliability accounting / statistics).[5]

A former United States Secretary of Defense, economist James R. Schlesinger, once stated: "Reliability is, after all, engineering in its most practical form."[4]

The word reliability can be traced back to 1816, by poet Samuel Coleridge.[7] Before World War II the name has been linked mostly to repeatability. A test (in any type of science) was considered reliable if the same results would be obtained repeatedly. In the 1920s product improvement through the use of statistical quality control was promoted by Dr. Walter A. Shewart at Bell Labs.[8] Around this time Wallodi Weibull was working on statistical models for fatigue. The development of reliability engineering was here on a parallel path with quality. The modern use of the word reliability was defined by the U.S. military in the 1940s and evolved to the present. It initially came to mean that a product would operate when expected (nowadays called "mission readiness") and for a specified period of time. In the time around the WWII and later, many reliability issues were due to inherent unreliability of electronics and to fatigue issues. In 1945, M.A. Miner published the seminal paper titled Cumulative Damage in Fatigue in an ASME journal. A main application for reliability engineering in the military was for the vacuum tube as used in radar systems and other electronics, for which reliability has proved to be very problematic and costly. The IEEE formed the Reliability Society in 1948. In 1950, on the military side, a group called the Advisory Group on the Reliability of Electronic Equipment, AGREE, was born. This group recommended the following 3 main ways of working:

In the 1960s more emphasis was given to reliability testing on component and system level. The famous military standard 781 was created at that time. Around this period also the much-used (and also much-debated) military handbook 217 was published by RCA (Radio Corporation of America) and was used for the prediction of failure rates of components. The emphasis on component reliability and empirical research (e.g. Mil Std 217) alone slowly decreases. More pragmatic approaches, as used in the consumer industries, are being used. The 1980s was a decade of great changes. Televisions had become all semiconductor. Automobiles rapidly increased their use of semiconductors with a variety of microcomputers under the hood and in the dash. Large air conditioning systems developed electronic controllers, as had microwave ovens and a variety of other appliances. Communications systems began to adopt electronics to replace older mechanical switching systems. Bellcore issued the first consumer prediction methodology for telecommunications, and SAE developed a similar document SAE870050 for automotive applications. The nature of predictions evolved during the decade, and it became apparent that die complexity wasn't the only factor that determined failure rates for Integrated Circuits (ICs). Kam Wong published a paper questioning the bathtub curve [9]--see also Reliability Centered Maintenance. During this decade, the failure rate of many components dropped by a factor of 10. Software became important to the reliability of systems. By the 1990s, the pace of IC development was picking up. Wider use of stand-alone microcomputers was common, and the PC market helped keep IC densities following Moores Law and doubling about every 18 months. Reliability Engineering now was more changing towards understanding the physics of failure. Failure rates for components kept on dropping, but system-level issues became more prominent. Systems Thinking became more and more important. For software, the CCM model (Capability Maturity Model) was developed, which gave a more qualitative approach to reliability. ISO 9000 added reliability measures as part of the design and development portion of Certification. The expansion of the World-Wide Web created new challenges of security and trust. The older problem of too little reliability information available had now been replaced by too much information of questionable value. Consumer reliability problems could now have data and be discussed online in real time. New technologies such as micro-electromechanical systems (MEMS), handheld GPS, and hand-held devices that combined cell phones and computers all represent challenges to maintain reliability. Product development time continued to shorten through this decade and what had been done in three years was being done in 18 months. This meant that reliability tools and tasks must be more closely tied to the development process itself. In many ways, reliability became part of everyday life and consumer expectations.

The objectives of reliability engineering, in the order of priority, are:[10]

The reason for the priority emphasis is that it is by far the most effective way of working, in terms of minimizing costs and generating reliable products.The primary skills that are required, therefore, are the ability to understand and anticipate the possible causes of failures, and knowledge of how to prevent them. It is also necessary to have knowledge of the methods that can be used for analysing designs and data.

Reliability engineering for complex systems requires a different, more elaborate systems approach than for non-complex systems. Reliability engineering may in that case involve:

Effective reliability engineering requires understanding of the basics of failure mechanisms for which experience, broad engineering skills and good knowledge from many different special fields of engineering,[11] like:

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Diabetes mellitus type 1 – Wikipedia, the free encyclopedia

July 14th, 2015 9:46 pm

Diabetes mellitus type1 (also known as type1 diabetes, or T1D; formerly insulin-dependent diabetes or juvenile diabetes) is a form of diabetes mellitus that results from the autoimmune destruction of the insulin-producing beta cells in the pancreas.[2] The subsequent lack of insulin leads to increased blood and urine glucose. The classical symptoms are polyuria (frequent urination), polydipsia (increased thirst), polyphagia (increased hunger) and weight loss.[3]

The cause of diabetes mellitus type 1 is unknown.[4] Type1 diabetes can be distinguished from type2 by autoantibody testing. The C-peptide assay, which measures endogenous insulin production, can also be used.

Administration of insulin is essential for survival. Insulin therapy must be continued indefinitely and does not usually impair normal daily activities. People are usually trained to manage their diabetes independently; however, for some this can be challenging. Untreated, diabetes can cause many complications.[4]Acute complications include diabetic ketoacidosis and nonketotic hyperosmolar coma. Serious long-term complications include heart disease, stroke, kidney failure, foot ulcers and damage to the eyes.[4] Furthermore, complications may arise from low blood sugar caused by excessive treatment.

Diabetes mellitus type 1 accounts for between 5% and 10% of cases of diabetes.[5][6] Globally, the number of people with DM type 1 is unknown,[7] although it is estimated that about 80,000 children develop the disease each year.[7] Within the United States the number of affected persons is estimated at one to three million.[7][8] The development of new cases vary by country and region; the lowest rates appears to be in Japan and China with approximately 1 person per 100,000 per year; the highest rates are found in Scandinavia where it is closer to 35 new cases per 100,000 per year.[9] The United States and northern Europe[clarification needed] fall somewhere in between with 8-17 new cases per 100,000 per year.[9]

The classical symptoms of type 1 diabetes include: polyuria (excessive urination), polydipsia (increased thirst), xerostomia (dry mouth), polyphagia (increased hunger), fatigue, and weight loss.[3]

Many type 1 diabetics are diagnosed when they present with diabetic ketoacidosis. The signs and symptoms of diabetic ketoacidosis include xeroderma (dry skin), rapid deep breathing, drowsiness, abdominal pain, and vomiting.[10]

About 12 percent of people with type 1 diabetes have clinical depression.[11]

The cause of type 1 diabetes is unknown.[4] A number of explanatory theories have been put forward, and the cause may be one or more of the following: genetic susceptibility, a diabetogenic trigger, and/or exposure to an antigen.[12]

Type1 diabetes is a disease that involves many genes. Depending on locus or combination of loci, they can be dominant, recessive, or somewhere in between. The strongest gene, IDDM1, is located in the MHC Class II region on chromosome 6, at staining region 6p21. Certain variants of this gene increase the risk for decreased histocompatibility characteristic of type1. Such variants include DRB1 0401, DRB1 0402, DRB1 0405, DQA 0301, DQB1 0302 and DQB1 0201, which are common in North Americans of European ancestry and in Europeans.[13] Some variants also appear to be protective.[13]

The risk of a child developing type 1 diabetes is about 10% if the father has it, about 10% if a sibling has it, about 4% if the mother has type 1 diabetes and was aged 25 or younger when the child was born, and about 1% if the mother was over 25 years old when the child was born.[14]

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Kidney Function, Location & Area | Body Maps

July 13th, 2015 11:47 pm

The kidneys are two bean-shaped organs that extract waste from blood, balance body fluids, form urine, and aid in other important functions of the body.

They reside against the back muscles in the upper abdominal cavity. They sit opposite each other on either side of the spine. The right kidney sits a little bit lower than the left to accommodate the liver.

When it comes to components of the urinary system, the kidneys are multi-functional powerhouses of activity. Some of the core actions of the kidneys include:

Most people are born with two kidneys, but many people can live on just one. Kidney transplant surgeries with live donors are common medical procedures today.

Because of all of the vital functions the kidneys perform and the toxins they encounter, the kidneys are susceptible to various problems.

Acute kidney failure is a condition in which the kidneys suddenly lose their ability to function properly. This can occur for many reasons, including:

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Easy Immune System Health home page

July 13th, 2015 11:47 pm

Strong and vibrant Immune System Health is the key to overcoming chronic health problems. My name is Kerri Knox. I've been a Registered Nurse in intensive care units and emergency rooms for over a decade and now, as a Functional Medicine Practitioner, a specific type of natural health care practitioner that focuses on remedying chronic and traditionally 'incurable' health problems in my private practice every day, I've learned exactly what it takes for you to overcome your chronic health problems. You can see more about my Functional Medicine Practice here.

Having worked in Emergency Rooms and Intensive Care Units for over 10 years as a Registered Nurse, I was confused and frustrated at the inability of 'Western Medicine' to actually help people to get well. It was great for broken bones and appendicitis, but not so great for those with chronic 'incurable' diseases, and I saw the same people in the hospital and in clinics over and over again trying to simply maintain their poor health and poor quality of life. This frustration over our 'sick care system' inspired me to DO something about actually getting people WELL and improving their health- and I found that creating strong Immune System Health is the absolute key to getting well, overcoming illness and maintaining VIBRANT health!

In fact, 'Western Medicine', also called allopathic medicine or traditional medicine is so focused on managing disease that most people don't even REALIZE that they can overcome their health problems. But after working with thousands of people with health problems, in person and through my website and forums, I can assure you that you absolutely can overcome or at least SIGNIFICANTLY improve your 'incurable' chronic health issues- without drugs. Now that you know that you HAVE a choice, if you are willing to take the first steps to wellness, I'm committed to helping you feel better!

I'll share Scientifically Sound, Well Researched Secrets with you that few doctors know. Some of these secrets, like:

are secrets that have successfully helped tens of thousands of people to REALLY get well, improve their immune system health and Stay well.

To Your Good Health, Kerri Knox Registered Nurse and Functional Medicine Practitioner

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What is DNA? – Genetics Home Reference

July 13th, 2015 11:47 pm

DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a persons body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences.

DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladders rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder.

An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell.

DNA is a double helix formed by base pairs attached to a sugar-phosphate backbone.

The National Human Genome Research Institute fact sheet Deoxyribonucleic Acid (DNA) provides an introduction to this molecule.

Information about the genetic code and the structure of the DNA double helix is available from GeneEd.

The New Genetics, a publication of the National Institute of General Medical Sciences, discusses the structure of DNA and how it was discovered.

Nature Educations Scitable offers a thorough description of DNA, including its components and organization. It also includes a short animated video.

A basic explanation and illustration of DNA can be found on Arizona State Universitys Ask a Biologist website.

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Biotechnology Careers in India : How to become a …

July 13th, 2015 11:45 pm

Bio-Technology is a research oriented science, a combination of Biology and Technology. It covers a wide variety of subjects like Genetics, Biochemistry, Microbiology, Immunology, Virology, Chemistry and Engineering and is also concerned with many other subjectslike Health and Medicine, Agriculture and Animal Husbandry, Cropping system and Crop Management, Ecology, Cell Biology, Soil science and Soil Conservation, Bio-statistics, Plant Physiology, Seed Technology etc. Bio-Technology is the use of living things, especially cells and bacteria in industrial process. There is a great scope in this field as the demand for biotechnologist are growing in India as well as abroad.

There are many applications of biotechnology such as developing various medicines, vaccines and diagnostics, increasing productivity, improving energy production and conservation. Biotechnology's intervention in the area of animal husbandry has improved animal breeding. It also helps to improve the quality of seeds, insecticides and fertilizers. Environmental biotechnology helps for pollution control and waste management.

Most of the information that has led to the emergence of biotechnology in the present form has been generated during the last five decades. The setting up of a separate Department of Biotechnology (DBT) (www.dbtindia.nic.in ) under the Ministry of Science and Technology in 1986 gave a new impetus to the development of the field of modern biology and biotechnology in India. More than 6000 biotechnologists of higher skill are required in India as per the report from the Human Resource Development Ministry. To overcome this vast requirement the department of Biotechnology (DBT) has highlighted the need to set up a regulatory body for the maintenance of standard education under the name of 'All- India Board of Biotechnology Education and Training' under the AICTE .

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Sports Medicine | Physiotherapy Clinics | Physio …

July 13th, 2015 11:42 am

LifeCare is Australia's largest provider of allied health, physiotherapy and sports medicine services with over 319 allied health professionals and 39 practices throughout New South Wales, Queensland, Victoria and Western Australia. LifeCare offers the highest standard of services with an integrated and multi-disciplinary approach to health management.

Being part of the LifeCare network enables our practitioners to stay at the forefront of clinical education ensuring a uniformly high standard of excellence in patient care.

To see our practitioners teaching specific treatment and exercise techniques to patients click on the LifeCare video button below!

Great people, great practices, great opportunities!

Physiotherapists and other health practitioners have been working together with LifeCare to provide the best care and the best service to our valued clients for almost 30 years.

Our success has been a result of working hard to support each practitioner in all aspects of their career and development. That is why LifeCare provides our practitioners support in the form of: education, training and mentoring.

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Stem Cells – SciTechStory

July 12th, 2015 7:45 pm

Stem cells are often in the news. These days its usually about some advance in research. Sometimes the controversy about using embryonic stem cells resurfaces. Despite all the coverage (pro or con) stem cells are not well understood. What are they and why are they important?

In more ways than one, its the potential of stem cells that makes them important. At the moment most of the work with stem cells is still in the laboratory; but thats changing. Within the next few years stem cells, in one form or another, will be at work in medical applications such as repairing a damaged pancreas or a heart. In fact, stem cells will be used to repair or even re-grow tissues all over the body skin, liver, lungs, bone marrow. The production of stem cells, their delivery, and procedures for using them will become the basis of an industry. In the not too distant future stem cells, or the knowledge we gain from working with them, will be used in sophisticated repair of the brain and as part of the development of replacement organs. The potential is enormous.

What are stem cells?

Stem cells are found in most multicellular creatures and come in different varieties; all have an important ability: They can fully reproduce themselves almost indefinitely. For example, in mammals like human beings, blood stem cells (hematopoietic stem cells) are active all our lives in the marrow of bones, where they continually produce the many different kinds of blood cells. Therein is another key property for most stem cells; they can become other kinds of cells. The word for this process is differentiate; blood stem cells can differentiate into red blood cells, white blood cells, blood platelets and so forth. The ability to produce different kinds of cells is why stem cells may be used, for example, to repair or replace damaged heart cells something mature heart cells cannot do on their own.

Stem cell jargon

When you read about stem cells, there are a number of words that jump out jargon, yes, but still descriptive. Stem cells are classified by their potency, that is, what other kinds of cells they can become, or put another way, their ability to differentiate into other cells. There is a rank order from more to less potent:

Totipotent sometimes also called omnipotent stem cells can construct a complete and viable organism. In short, they are the same as a cell created by the fusion of the egg and a sperm (an embryonic cell). Totipotent cells can become any type of cell.

Pluripotent stem cells are derived from totipotent cells and are nearly as versatile. They can become any type of cell, except embryonic.

Multipotent stem cells can become a wide variety of cells, but only those of a close family, for example blood stem cells (hematopoietic cells) can become any of the blood cells, but not other kinds of cells.

Oligopotent stem cells are limited to becoming specific types of cells, such as endoderm, ectoderm, and mesoderm.

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Stem Cell Therapy for Kidney Disease – Kidney Service China

July 12th, 2015 7:45 pm

With the development of modern medicine, Stem Cell Therapy or stem cell transplant has been used widely to treat various diseases including chronic kidney disease, especially kidney failure. If patients want to rebuild their kidney structure and reverse their kidney damage, this therapy may worth a try.

Stem cell is one class of cell with self-renewal and pluripotency ability. In center condition, stem cells can differentiate into various functioning cells, so they are applied in many medical fields including blood disease, respiratory system disease, cancer, nervous system disease, kidney disease, and so on.

In recent years, clinical research finds that stem cells can differentiate into inherent kidney cells and renal parenchymal cells, so stem cell transplant shows an obvious effect on repairing and rebuilding kidney functioning cells.

Compared with conventional therapies, stem cells wont cause rejection reaction, have strong differentiated ability, and dont cause any toxicity or side effect. Additionally, most kidney disease or kidney failure patients can use this therapy with doctors guidance.

Chronic kidney disease has always been one difficult problem in medicine. Stem Cell Therapy provides another new hope for these patients to obtain a brand new life. After taking this therapy, some remarkable improvements can be recognized easily. They are:

- High blood pressure, high creatinine level and high urea level decline obviously

- Capillary circulation all over the body improves

- Immune system is normalized

- Patients have more energy and stronger body

- Protein and red blood cells in urine reduce

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STELLAR – Stem Cells in Kidney Disease – Stem Cell based …

July 12th, 2015 7:45 pm

Stem Cells in Focus is an ISSCR topic in which a series of webcasts is organized allowing the public to discuss Stem Cell topics with leaders in the field.

Yesterday STELLAR member Melissa Little dicussed her topic during a webcast session on:Exploring Organoids: Growing a Kidney in a Dish.

Below is an interview with Melissa conducted byMaya Chaddah leading up to the webcast.

There was great excitement in 2013 when Australian scientist, Prof. Melissa Little, at The University of Queenslands Institute for Molecular Bioscience in Brisbane, Australia saw tiny buds of tissue growing in a dish that looked like embryonic kidneys. Originally a cancer geneticist, she had spent years studying the genes and pathways that lead to the formation of Wilms tumor, a kidney cancer found in children. As the connections between abnormal kidney formation during development and kidney dysfunction in children became apparent, she began exploring new ways to help individuals with kidney disease.

In the 15 years since Prof. Little started focusing on kidney development, renal disease and repair, the rates of chronic kidney disease have skyrocketed globally, due in large part to conditions like diabetes, hypertension (high blood pressure), glomerulonephritis (immune-mediated disease) and cardiovascular disease. Although the adult kidney can repair some damage for example, after a night of excessive alcohol, a period of dehydration, rapid blood loss, or exposure to chronic toxins it cannot grow new nephrons, which are vital to its function, after we are born. So chronic kidney damage takes its toll and ultimately leaves individuals on dialysis or awaiting kidney transplants, which are in very short supply.

The kidney is a very complex organ, comprised of 250,000 to 2 million nephrons that filter the blood (about 5 cups/minute), resorb nutrients and excrete waste. Each nephron is shaped like the head of a wrench leading into a long convoluted tube that bends and winds. Blood is filtered at the head of the wrench and different points along the tube take back what the body needs ions, amino acids and water. The tube then dumps what the body doesnt want into a large pipe called the collecting duct, which funnels the waste to the bladder for excretion. Any condition that repeatedly affects the ability of the nephrons to filter the blood can lead to a build-up of kidney damage over time.

Prof. Littles team was keen to understand kidney development in humans. Because the adult human kidney cannot make new nephrons, they attempted to replicate the process by which nephrons develop in the human embryo, using cultured cells grown in the laboratory. This involved identifying the conditions under which embryonic stem cells derived from the earliest unspecialized cells in an embryo can be coaxed to make mesoderm, the layer of cells in the early embryo with the potential to make kidney cells. From there, they developed a very tight, quality controlled method for reproducibly making nephron progenitors, the cells which make nephrons, as well as early nephrons and collecting duct cells.

What Prof. Littles team finds amazing is how exactly these types of cells, the nephrons and their progenitors and collecting duct cells, self-assemble into three dimensional structures outside the body, in a totally artificial lab environment. She likens the mystery to when animals are born and immediately just know how to stand up and go to their mothers. The kidney organoids her team can grow right now are only tiny buds of tissue, much smaller than normal kidneys and less complicated, but clearly with the same kinds of cells found in an embryo making a kidney. The next steps are to keep pushing the kidney organoids down the developmental pathway that ends with fully functional organs, and then to investigate whether the nephrons could do their job if given a blood supply.

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Kidney Resource Page

July 12th, 2015 7:43 pm

WORLD KIDNEY DAY THE WEATHER CHANNEL- WEATHER IN YOUR CITY (NOAA) -TWITTER KCER DIALYSISUNITS.COM Find a dialysis unit phone number instantly Dialysis Unit Closures DIALYSIS UNIT STATUS CLOSED FACILITIES RSS CLOSURES FEED SURGE CAPACITY RSS SURGE FEED

Use hh.nephron.com to get updates on dialysis closures and surges

Chemistry Conversions

by Stephen Z. Fadem, M.D., FACP

The primary focus of The Nephron Information Center is to support the generation and dissemination of valid health information relevant to the kidney community as well as to the public. How can we meet your needs as we filter and recycle useful information? Your comments are welcome in Guestbook

DISCLAIMER

Note: This information does not constitute medical advice, and is for information and education purposes only. We cannot answer questions nor give any advice through e-mail. Please consult your physician for specific treatment recommendations. The information obtained through this service, and the information which you receive through the Internet is only for general guideline purposes, and is not an ultimate source of information, nor something which you should rely on as a sole source for your medical care. All medical and therapeutic decisions must come from your health care provider. The authors, editors, producers, sponsors, and contributors shall have no liability, obligation or responsibility to any person or entity for any loss, damage, adverse consequence alleged to have happened directly or indirectly as a consequence of this material.

about the Author, Stephen Z. Fadem, M.D., FACP

1996 - 2005 Stephen Z Fadem, M.D., FACP all rights reserved

HOW MANY HOURS SHOULD AN ONLINE CME PROGRAM BE? TOUCHCALC: The Mergener Formula

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Home | HMS Department of Genetics

July 12th, 2015 7:42 pm

BCH Division of Genetics and Genomics Seminar

Generating Cartilage from Human Pluripotent Stem Cells: A Developmental Approach.

Special Seminar

How Neurons Talk to the Blood: Sensory Regulation of Hematopoiesis in the Drosophila Model

Genetics Seminar Series

Neural Reprogramming of Germline Cells and Trans-Generational Memory in Drosophila

BCH Division of Genetics and Genomics Seminar

Genetics Seminar Series - Focused Seminars

Reflecting the breadth of the field itself, the Department of Genetics at Harvard Medical School houses a faculty working on diverse problems, using a variety of approaches and model organisms, unified in their focus on the genome as an organizing principle for understanding biological phenomena. Genetics is not perceived simply as a subject, but rather as a way of viewing and approaching biological phenomena.

While the range of current efforts can best be appreciated by reading the research interests of individual faculty, the scope of the work conducted in the Department includes (but is by no means limited to) human genetics of both single gene disorders and complex traits, development of genomic technology, cancer biology, developmental biology, signal transduction, cell biological problems, stem cell biology, computational genetics, immunology, synthetic biology, epigenetics, evolutionary biology and plant biology.

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Gene Therapy and Children – KidsHealth

July 12th, 2015 7:42 pm

Gene therapy carries the promise of cures for many diseases and for types of medical treatment that didn't seem possible until recently. With its potential to eliminate and prevent hereditary diseases such as cystic fibrosis and hemophilia and its use as a possible cure for heart disease, AIDS, and cancer, gene therapy is a potential medical miracle-worker.

But what about gene therapy for children? There's a fair amount of risk involved, so thus far only seriously ill kids or those with illnesses that can't be cured by standard medical treatments have been involved in clinical trials using gene therapy.

As those studies continue, gene therapy may soon offer hope for children with serious illnesses that don't respond to conventional therapies.

Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits like eye color and the color and texture of our hair. They also determine things like whether babies will be male or female, the amount of oxygen blood can carry, and the likelihood of getting certain diseases.

Genes are composed of strands of a molecule called DNA and are located in single file within the chromosomes. The genetic message is encoded by the building blocks of the DNA, which are called nucleotides. Approximately 3 billion pairs of nucleotides are in the chromosomes of a human cell, and each person's genetic makeup has a unique sequence of nucleotides. This is mainly what makes us different from one another.

Scientists believe that every human has about 25,000 genes per cell. A mutation, or change, in any one of these genes can result in a disease, physical disability, or shortened life span. These mutations can be passed from one generation to another, inherited just like a mother's curly hair or a father's brown eyes. Mutations also can occur spontaneously in some cases, without having been passed on by a parent. With gene therapy, the treatment or elimination of inherited diseases or physical conditions due to these mutations could become a reality.

Gene therapy involves the manipulation of genes to fight or prevent diseases. Put simply, it introduces a "good" gene into a person who has a disease caused by a "bad" gene.

The two forms of gene therapy are:

Currently, gene therapy is done only through clinical trials, which often take years to complete. After new drugs or procedures are tested in laboratories, clinical trials are conducted with human patients under strictly controlled circumstances. Such trials usually last 2 to 4 years and go through several phases of research. In the United States, the U.S. Food and Drug Administration (FDA) must then approve the new therapy for the marketplace, which can take another 2 years.

The most active research being done in gene therapy for kids has been for genetic disorders (like cystic fibrosis). Other gene therapy trials involve children with severe immunodeficiencies, such as adenosine deaminase (ADA) deficiency (a rare genetic disease that makes kids prone to serious infection), sickle cell anemia, thalassemia, hemophilia, and those with familial hypercholesterolemia (extremely high levels of serum cholesterol).

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Diabetes: Causes, Symptoms and Treatments

July 12th, 2015 7:42 pm

knowledge center home diabetes what is diabetes?

Diabetes, often referred to by doctors as diabetes mellitus, describes a group of metabolic diseases in which the person has high blood glucose (blood sugar), either because insulin production is inadequate, or because the body's cells do not respond properly to insulin, or both. Patients with high blood sugar will typically experience polyuria (frequent urination), they will become increasingly thirsty (polydipsia) and hungry (polyphagia).

Fast facts on diabetes

Here are some key points about diabetes. More detail and supporting information is in the main article.

There are three types of diabetes:

The body does not produce insulin. Some people may refer to this type as insulin-dependent diabetes, juvenile diabetes, or early-onset diabetes. People usually develop type 1 diabetes before their 40th year, often in early adulthood or teenage years.

Type 1 diabetes is nowhere near as common as type 2 diabetes. Approximately 10% of all diabetes cases are type 1.

Patients with type 1 diabetes will need to take insulin injections for the rest of their life. They must also ensure proper blood-glucose levels by carrying out regular blood tests and following a special diet.

Between 2001 and 2009, the prevalence of type 1 diabetes among the under 20s in the USA rose 23%, according to SEARCH for Diabetes in Youth data issued by the CDC (Centers for Disease Control and Prevention). (Link to article)

The body does not produce enough insulin for proper function, or the cells in the body do not react to insulin (insulin resistance).

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Diabetes: Causes, Symptoms and Treatments

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Glaucoma Service Foundation to Prevent Blindness

July 12th, 2015 7:41 pm

Welcome to the internet site of the Glaucoma Service Foundation to Prevent Blindness.We believe the best patient care is only possible when patients actively participate in their care and are as informed as possible about glaucoma. This site, voted one of the top five glaucoma websites in the world, provides a wealth of information as well as links to other resources.

This site provides access to unique chat sessions hosted by Glaucoma Service physicians. This chat was honored at the 2004 Annual Meeting of the American Academy of Ophthalmology as the premiere virtual glaucoma chat support group in the world, which personalizes the educational outreach of the Service to an unprecedented degree. The chat support group is a cornerstone of the Services e-Medicine program, which includes tele-consultation, tele-informatics, and research into the practicality of tele-screening for glaucoma.

The Glaucoma Service Foundation was founded in 1979 by world renowned glaucoma specialist George L. Spaeth, MD and his late wife Ann to support glaucoma education, research and community outreach.

Special thanks to the Robison D. Harley Fund for Glaucoma Education and Research, the lead sponsor for the Annual CARES Conference.

Wills Eye is consistently ranked as one of America's best ophthalmology centers by U.S. News & World Report.

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Onchocerciasis – Wikipedia, the free encyclopedia

July 12th, 2015 7:41 pm

Onchocerciasis ( or ), also known as river blindness and Robles disease, is a disease caused by infection with the parasitic worm Onchocerca volvulus.[1] Symptoms include severe itching, bumps under the skin, and blindness.[1] It is the second most common cause of blindness due to infection, after trachoma.[2]

The parasite worm is spread by the bites of a black fly of the Simulium type.[1] Usually many bites are required before infection occurs.[3] These flies live near rivers therefore the name of the disease.[2] Once inside a person the worms create larvae that make their way out to the skin.[1] Here they can infect the next black fly that bites the person.[1] There are a number of ways to make the diagnosis including: placing a biopsy of the skin in normal saline and watching for the larva to come out, looking in the eye for larvae, and looking within the bumps under the skin for adult worms.[4]

A vaccine against the disease does not exist.[1] Prevention is by avoiding being bitten by flies.[5] This may include the use of insect repellent and proper clothing.[5] Other efforts include those to decrease the fly population by spraying insecticides.[1] Efforts to eradicate the disease by treating entire groups of people twice a year is ongoing in a number of areas of the world.[1] Treatment of those infected is with the medication ivermectin every six to twelve months.[1][6] This treatment kills the larva but not the adult worms.[7] The medication doxycycline, which kills an associated bacterium called Wolbachia, appears to weaken the worms and is recommended by some as well.[7] Removal of the lumps under the skin by surgery may also be done.[6]

About 17 to 25 million people are infected with river blindness, with approximately 0.8 million having some amount of loss of vision.[3][7] Most infections occur in sub-Saharan Africa, although cases have also been reported in Yemen and isolated areas of Central and South America.[1] In 1915, the physician Rodolfo Robles first linked the worm to eye disease.[8] It is listed by the World Health Organization as a neglected tropical disease.[9]

Adult worms remain in subcutaneous nodules, limiting access to the host's immune system.[citation needed] Microfilariae, in contrast, are able to induce intense inflammatory responses, especially upon their death. Wolbachia species have been found to be endosymbionts of O. volvulus adults and microfilariae, and are thought to be the driving force behind most of O. volvulus morbidity. Dying microfilariae have been recently discovered to release Wolbachia surface protein that activates TLR2 and TLR4, triggering innate immune responses and producing the inflammation and its associated morbidity.[10] The severity of illness is directly proportional to the number of infected microfilariae and the power of the resultant inflammatory response.[citation needed]

Skin involvement typically consists of intense itching, swelling, and inflammation.[11] A grading system has been developed to categorize the degree of skin involvement:[12][13][verification needed]

Ocular involvement provides the common name associated with onchocerciasis, river blindness, and may involve any part of the eye from conjunctiva and cornea to uvea and posterior segment, including the retina and optic nerve.[11] The microfilariae migrate to the surface of the cornea. Punctate keratitis occurs in the infected area. This clears up as the inflammation subsides. However, if the infection is chronic, sclerosing keratitis can occur, making the affected area become opaque. Over time, the entire cornea may become opaque, thus leading to blindness. Some evidence suggests the effect on the cornea is caused by an immune response to bacteria present in the worms.[citation needed] The skin is itchy, with severe rashes permanently damaging patches of skin.

The Mazzotti reaction, first described in 1948, is a symptom complex seen in patients after undergoing treatment of onchocerciasis with the medication diethylcarbamazine(DEC). Mazzotti reactions can be life-threatening, and are characterized by fever, urticaria, swollen and tender lymph nodes, tachycardia, hypotension, arthralgias, oedema, and abdominal pain that occur within seven days of treatment of microfilariasis.

The phenomenon is so common when DEC is used that this drug is the basis of a skin patch test used to confirm that diagnosis. The drug patch is placed on the skin, and if the patient is infected with O. volvulus microfilaria, localized pruritus and urticaria are seen at the application site.[14]

This is an unusual form of epidemic epilepsy associated with onchocerciasis.[15] This syndrome was first described in Tanzania by Louise Jilek-Aall, a Norwegian psychiatric doctor in Tanzanian practice, during the 1960s. It occurs most commonly in Uganda and South Sudan.

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Onchocerciasis - Wikipedia, the free encyclopedia

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Ice or Heat a Sports Injury? – Sports Medicine

July 12th, 2015 8:43 am

Chronic Pain develops slowly and is persistent and long-lasting. Acute and Chronic Injuries Acute injuries are sudden, sharp, traumatic injuries that occur immediately (or within hours) and cause pain (possibly severe pain). Most often acute injuries result from some sort of impact or trauma such as a fall, sprain, or collision and it's pretty obvious what caused the injury.

Acute injuries also cause common signs and symptoms of injury such as pain, tenderness, redness, skin that is warm to the touch, swelling and inflammation. If you have swelling, you have an acute injury.

Chronic injuries, on the other hand, can be subtle and slow to develop. They sometimes come and go, and may cause dull pain or soreness. They are often the result of overuse, but sometimes develop when an acute injury is not properly treated and doesn't heal.

Cold Therapy with Ice Cold therapy with ice is the best immediate treatment for acute injuries because it reduces swelling and pain. Ice is a vaso-constrictor (it causes the blood vessels to narrow) and it limits internal bleeding at the injury site. There is controversy as to whether continued application of ice results in a sudden vasodilation of the blood vessels (the hunting response) and if so, at what time this response begins and how often a cycle of constriction and dilation occurs.

To ice an injury, wrap ice in a thin towel and place it on the affected area for 10 minutes at a time. Allow the skin temperature to return to normal before icing a second or third time. You can ice an acute injury several times a day for up to three days.

Cold therapy is also helpful in treating some overuse injuries or chronic pain in athletes. An athlete who has chronic knee pain that increases after running may want to ice the injured area after each run to reduce or prevent inflammation.

The best way to ice an injury is with a high quality ice pack that conforms to the body part being iced. Examples include ColdOne Cold Therapy Wraps and SnowPack Cold Therapy products. You can also get good results from a bag of frozen peas, an ice massage with water frozen in a paper cup (peel the cup down as the ice melts) or a bag of ice.

Read more about how to safely use ice on injuries.

Heat Therapy Heat is generally used for chronic injuries or injuries that have no inflammation or swelling. Sore, stiff, nagging muscle or joint pain is ideal for the use of heat therapy. Athletes with chronic pain or injuries may use heat therapy before exercise to increase the elasticity of joint connective tissues and to stimulate blood flow. Heat can also help relax tight muscles or muscle spasms. Don't apply heat after exercise. After a workout, ice is the better choice on a chronic injury.

Because heat increases circulation and raises skin temperature, you should not apply heat to acute injuries or injuries that show signs of inflammation. Safely apply heat to an injury 15 to 20 minutes at a time and use enough layers between your skin and the heating source to prevent burns.

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NC State College of Veterinary Medicine

July 11th, 2015 4:48 pm

Ranked third in the nation among colleges of veterinary medicine by U.S. News & World Report, NC States College of Veterinary Medicine is a driving force in veterinary innovation. From our leadership in understanding and defining the interconnections between animal and human health, to groundbreaking research in areas like equine health, and our commitment to training the next generation of veterinary health professionals, we are dedicated to advancing animal and human health from the cellular level through entire ecosystems.

Learn more about what we do

The following article by Tracey Peake, reprinted from The Abstract: NC States research blog,concerns research by neurobiologist Troy Ghashghaei of the Department of Molecular Biomedical Sciences in NC States College of Veterinary Medicine.

A common protein, when produced by specialized barrier cells in the brain, could help protect the brain from damage due to aging. This protein MARCKS may act as both a bouncer and a housekeeping service, by helping clear away proteins and keeping the cell barrier intact, and its absence in these cells weakens their ability to serve as a barrier and transport system for cerebrospinal fluid (CSF) in the brain.

Your brain doesnt just sit in your skull like play-doh in its plastic case. Its surrounded and cushioned by CSF, a clear, colorless fluid produced in the brain that circulates nutrients and chemicals taken from blood throughout the brain. CSF also removes waste products and sends them back out to the bloodstream for disposal.

Like blood, CSF only circulates through certain channels. Ependymal cells are the specialized cells that serve as both the barrier to keep the CSF running through its channels and as the transport system that moves various molecules between the brain and the CSF.

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