Inkslingin' Chris

I wanna shed some light on a killer.  It's about education, wi thout it what do you have? Feel like helping? Repost this somewhere on your page maybe more people will read it. Knowledge is contagious or so they say...

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How does PKD spread?
Because PKD is an inherited disorder, the dominant form of the disease (ADPKD) is passed from one generation to the next by an affected parent. Each child of an ADPKD parent has a 50 percent chance of inheriting the disease. Scientists have also discovered that approximately 10% of the PKD patient community became affected through spontaneous mutation, and not through inheritance. ADPKD equally affects men and women, regardless of age, race, or ethnic origin.

Each cell nucleus contains tiny threads called chromosomes. All the necessary information that is required to direct the formation and function of a human being is contained in these chromosomes. The chromosomes in turn are composed of genes, which are the basic units of heredity. Genes are so small that they remain invisible even under an electron microscope. Genes, therefore, are studied by molecular geneticists.

The goal in ultimately curing a genetically inherited disease is to find out what the abnormal protein is and try to fix it. An amazing thing we know is that there is more than one gene that causes ADPKD. There appears to be at least three genes that can cause ADPKD. About 80 percent of the people with ADPKD have the ADPKD1 gene, located on chromosome 16. Most of the rest of the ADPKD population has the ADPKD2 gene located on chromosome 4. The location of the ADPKD3 gene has not as yet been determined.It appears that the disease caused by the ADPKD1 and ADPKD2 genes are somewhat different. With the ADPKD1 gene, cysts seem to form at an earlier age, there appears to be an earlier onset of high blood pressure and earlier loss of kidney function as compared to the ADPKD2 gene.

The risk of having a child who inherits the chromosome with the affected gene is always 50 percent with each pregnancy no matter how many children a person has. In some families, all of the children are affected; in other families, none are. Many families with multiple children will have both affected and unaffected children.

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If my grandparent has ADPKD but my parent does not, can I get it?
PKD does not skip a generation. However, symptoms and progression of the disease do not necessarily affect each generation in the same way.

The gene for ADPKD is dominant, which means there only has to be one copy of the gene passed on from either an affected mother or father to cause the disease. There is no carrier state with a dominant gene; it does not hide and come out in a later generation. So if a person has the gene, at some time in his/her life at least some of the manifestations of the disease will occur. When an individual does not have the gene for ADPKD, he/she does not have the disease and therefore cannot pass the gene on to the next generation.

In ADPKD there is also approximately a 10 percent rate of spontaneous mutation. This means that instead of inheriting the ADPKD gene from a parent with the disease, the gene mutates by itself for no known reason. It is important to know that even with a true spontaneous mutation, a newly affected person will still pass the mutated gene on to his/her children.

Everyone who has ADPKD in the same family has the same type of ADPKD gene and the same defect in that gene. However, even in the same family, signs and symptoms and the course of the disease are very often different. It is very difficult to predict the course of the disease in any one family member by looking at the progression of the disease in his/her parent or siblings.

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Diagnosis of ADPKD

A physician is alerted to the possibility of ADPKD in three different settings: when someone reports that there is a family history of ADPKD, when there are signs and symptoms that commonly occur in ADPKD, or when a test is done for some other reason and cysts are found in the kidney.

Currently, there are three main clinical tests that can be used to diagnose a person with PKD: ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI).

Ultrasound is the best screening for ADPKD. Although the majority of ADPKD patients have cysts by the time they are adults, it is only after the age of 30 that a negative ultrasound probably means that someone has less than a 5 percent chance of having ADPKD. Also, ADPKD1 appears to have a more aggressive course than ADPKD2 ... therefore, unless it is clear that your family has ADPKD1, the disease may not be detectable by ultrasound until even later in life.

The reason computed tomography (CT) scans are not used as the first test to diagnose ADPKD is that CT uses radiation and often requires dye. CT scan is the best test when certain complications like bleeding into a cyst or kidney stones are suspected. The limitations of both ultrasonography and CT scan is that the cysts have to be large enough to be seen.

For now, gene linkage study is the most accurate test when the cysts cannot be seen by ultrasonography or CT scan. Gene linkage can determine ADPKD status with a 99 percent probability in informative families. However, gene linkage is quite expensive ($2,200/family) and requires several other family members with ADPKD to donate blood samples. Because of this, gene linkage is usually used only when an undiagnosed family member would like to donate a kidney to another family member or when the outcome of a pregnancy would be altered if a positive diagnosis were made in the fetus.

In addition, there are different methods of performing the test. The two most common methods of carrying out DNA analysis are linkage testing and direct sequencing. Linkage testing is not a direct analysis of the DNA sequence of the PKD1 and PKD2 genes. Rather, it relies on the identification of certain "markers" in the DNA of several members of a family in which PKD has been diagnosed. For the analysis, blood samplesmust be obtained from the person being tested (the "proband") as well as from several (typically three or more) persons from more than one generation of the proband's family, including those affected and unaffected with ADPKD. A detailed family history and pedigree are also required. The results are typically reported to all family members that provided blood samples for the analysis.

In contrast, direct DNA sequencing requires only a single sample from the proband. This method is a direct analysis of the DNA sequences of the PKD1 and PKD2 genes. It is private, and the results are only reported to the proband's physician and the patient (the proband). Using very sophisticated DNA sequencing apparatus, each of the nearly 17,000 "bases" of DNA are analyzed and the entire sequence is thus determined. This method is capable of identifying those changes in the sequence that are indicative of disease. It may be the only option if family members are unavailable or unwilling to participate in a linkage study.

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Signs and Symptoms of ADPKD

What are the symptoms of PKD?
What are complications of PKD?



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What are the symptoms of PKD?
Early in the disease there generally are no symptoms at all. In fact, many people are never diagnosed with ADPKD because they have so few or no symptoms. Often the first sign of ADPKD is high blood pressure, blood in the urine or a feeling of heaviness/pain in the back, sides or abdomen. Sometimes the first sign is urinary tract infection and/or kidney stones.

High blood pressure, or hypertension, affects about 60 percent to 70 percent of people with ADPKD. High blood pressure begins early in the course of ADPKD. In ADPKD it seems that the most likely reason for high blood pressure is the constricting of blood vessels. In ADPKD, cysts can press on blood vessels in the kidney, resulting in decreased blood flow to some parts of the kidney. Sensors in the nephron react as though the blood pressure in the kidney was low; renin is then secreted, which in turn generates angiotensin, constricting the blood vessels, and causing high blood pressure. If not treated, hypertension damages the kidneys, enlarges the heart and can cause strokes.

Chronic pain is one of the most common problems for people with ADPKD. The pain is usually in the back or the side and occasionally in the stomach. The pain can be intermittent and mild requiring only occasional mild pain medicine such as acetaminophen. In a small number of people, the pain can be constant and quite severe.

Close to 50 percent of those with ADPKD have had or will have blood in their urine at some time. This is called hematuria. The urine may look pink, red or brown. Passing small amounts of red blood cells in the urine that can only be seen under a microscope may also occur. This is called microscopic hematuria. Blood in the urine can last for a day or less or the bleeding may go on for days. Strict bed rest, increased fluid intake, and acetaminophen (if there is pain) are usually the treatments if the bleeding is prolonged.

Urinary tract infection, commonly called UTI, is an infection caused by bacteria that have reached the bladder, kidneys or the cysts themselves. The infection usually starts in the bladder and can progress up the ureters into the kidneys. Although both men and women have UTIs, they are far more common in women. UTIs are quite common in the general population, but they appear to be more frequent in those with ADPKD. The most common symptom of UTI is pain or burning with urination and/or an urgent need to urinate even though there is only a small amount of urine. When the infection is in the kidney or in a cyst, there may be a sudden onset of fever, chills and back or flank pain.

Kidney stones occur in about 20 percent to 30 percent of people with ADPKD compared to 8 percent to 10 percent in the general population. One reason kidney stones are more common may be due to cysts blocking the tubules, preventing normal drainage. When the urine stays in one area longer than it should, crystals can form and cause kidney stones. Another reason that stones may form in some people with ADPKD is that there is a decrease in urine citrate. Urine citrate is a substance that prevents formation of kidney stones. The symptoms of kidney stones are severe pain in the back, side or into the groin. Often there will be blood in the urine when passing a kidney stone.

Although everyone with the ADPKD gene develops kidney cysts, not everyone progresses to kidney failure, and if they do it's rarely before the age of 40.

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What are complications of PKD?
ADPKD is not just a kidney disorder; other organs can be affected, including the liver, heart and intestines.



Sixty percent to 70 percent of people with ADPKD have cysts in the liver during their lifetime. Liver cysts rarely occur in those under the age of 30 but do form and increase as a person ages. Even though there is an increase in liver size, the amount of functional liver tissue remains fairly constant. Liver cysts occur as often in men as in women. However, women have liver cysts at a younger age than men. Women also have more and larger cysts than men. Women who have been pregnant are more likely to have liver cysts; and the cysts are more numerous and larger in women who have been pregnant compared to women who have not been pregnant.

Mitral valve prolapse (MVP) is a condition where the valve separating the top and the bottom of the left side of the heart does not close properly. Sometimes this causes blood to leak back to the top part of the heart. This is called regurgitation and can be heard during an examination of the heart as a heart murmur. MVP occurs in approximately 26 percent of the people who have ADPKD compared to 2 percent to 3 percent of the general population. Symptoms that can be associated with MVP are palpitations, a feeling that the heart is running away or that there are extra beats in the heart, and chest pain that is not associated with exercise or exertion.

People with ADPKD have about a 5 percent to 10 percent risk of developing intracranial aneurysms. These aneurysms seem to cluster in certain families. That is, if a member of your family has an aneurysm or has ruptured an aneurysm, you may be at a higher risk of having an aneurysm also. People who have ADPKD and a family history of aneurysm should be tested. An aneurysm is an outpouching in a blood vessel. Intracranial aneurysms occur in the blood vessels of the brain. Aneurysms can leak or rupture. In these events the symptoms can include sudden severe headache, pain in moving the neck, nausea and vomiting, and even loss of consciousness. All such symptoms require immediate medical attention.

Both inguinal and umbilical hernias are more common in those with ADPKD. Inguinal hernias are outpouchings in the area of the groin and umbilical hernias are outpouchings at or near the navel.

Diverticula are outpouchings on the large intestine (colon). It seems that people with ADPKD who are on dialysis or have had a transplant have diverticula more often and more complications from diverticula, including infection, than people who have other kidney diseases.

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Nutrition and Dietary Modification of ADPKD

Current research demonstrates that a person with ADPKD can play a major role in controlling the development of their disease with regular health care maintenance, a good diet and regular exercise.

At this time there is no specific diet that will make polycystic kidneys better or keep them from getting worse. However, one of the functions of the kidney is to remove waste products from the body. The major source of these waste products is the food we eat, especially protein. When a person has lost a significant amount of kidney function, a low protein diet may be ordered by his/her physician.

Avoiding large amounts of red meat can help protect your kidneys. It is probably a good idea to eat a hamburger or small steak only a couple of times a week and to include other good sources of protein in your diet, such as chicken, fish, beans and pasta.

Excessive amounts of salt should be avoided. This becomes important when people are on certain types of blood pressure medicine and when they have kidney failure. Dietary salt intake can cause unnecessary increases in blood pressure. The problem with salt is that most people like its taste and most foods have salt added to them. Salt is a preservative, so any canned food, pre-prepared food, bottled sodas or food from fast-food chains are loaded with salt. Fresh fruits, salads and most fresh vegetables are healthy alternatives and their preparation is not that time-consuming.

Drinking lots of water is very helpful. When people drink lots of liquids, their kidneys make more urine. This allows the body to flush out waste products more easily. It is also important to drink lots of water to avoid dehydration. In ADPKD, the kidneys can have trouble holding onto water. Therefore, it is important to bring lots of water or other liquids with you on long hikes, bike trips or camping trips.

It is suggested that patients with polycystic kidneys and polycystic livers refrain from caffeinated beverages such as coffee, tea and certain cold drinks. Recent experimental evidence in laboratory models of PKD indicate that the caffeine may conceivably cause kidney and liver cysts to expand at a faster rate than usual. Caffeine is known to increase within kidney cells the level of a compound called cyclic AMP that causes increased rates of cyst enlargement. There are no clinical studies, however, that prove or disprove that caffeine affects the rate that kidney cysts expand. Nonetheless, it seems appropriate to alert patients to the possibility that caffeine could potentially have harmful effects on polycystic kidneys.

Light and/or occasional use of alcohol has not been shown to damage kidneys or the liver. However, drinking three or more ounces of alcohol a day has been associated with increases in blood pressure and can damage the liver.

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Pain Management of ADPKD

Can surgery help my pain?
Can medication control my pain?



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Can surgery help my pain?
There have been some exciting preliminary results in the use of laparoscopic surgery to "unroof" cysts (also called de-roofing) and thereby reduce pain in ADPKD patients. Laparoscopic surgery is similar to arthroscopic surgery in that only a very small incision is necessary for the procedure, and the surgical recovery time and scarring are much reduced. This procedure is conducted only in patients whose symptoms strongly suggest that their pain is caused by the cysts, and who have cysts larger than five millimeters in diameter. This procedure is only to reduce pain, not to preserve kidney function.

Not all pain in PKD is due to the kidneys. Involve a pain specialist prior to laparoscopic or open surgery. Click here, for additional information on Laparoscopic Urology in the Management of ADPKD.

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Can medication control my pain?
It appears that no analgesics can be used with impunity. Codeine and other narcotics can lead to dependency or addiction. Non-steroidal anti-inflammatory agents (aspirin, ibuprofen, naproxyn and several more with trade names such as Advil, Nuprin, Naprosyn, Motrin, etc.) can reduce the flow of blood through the kidneys and aggravate high blood pressure - so PKD patients should NOT take these medications. Acetaminophen can probably be used in small doses for short periods of time without injuring the kidneys, but patients with chronic, severe pain may have to consult a specialized pain clinic in order to consider alternative types of treatment.

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Living with PKD


In this section of our Web site, you'll find articles that focus on specific issues facing those living with PKD.

For additional feature, medical or PKD Foundation news stories, please click here.

Questions & Answers from PKD patients
How to find a doctor
Preventative Measures — How diet and nutrition can help you stay healthy
Nutrition and dietary modification of ADPKD
Tips from the experts on PKD pain management
Interventional pain management of ADPKD
The basics of Polycystic Liver Disease and its relationship to PKD


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End Stage Renal Disease and ADPKD

What are the chances that a PKD patient can develop kidney failure?
What is dialysis?
What is a transplant?



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What are the chances that a PKD patient can develop kidney failure?
More than 60 percent of the individuals with PKD develop kidney failure, or end-stage renal disease (ESRD), for which dialysis and transplantation are reasonable treatments. However, there is currently no known treatment or cure for PKD.

The progression to end-stage renal failure is usually gradual for people with ADPKD. End-stage renal disease is a condition where the kidneys can no longer remove the wastes and excess water, or balance electrolytes and acids in the blood. These imbalances result in the person not feeling as well as he/she is used to. Symptoms that some people experience during this time are:

Decreased energy
Weakness
Shortness of breath
Weight loss
Nausea and/or vomiting
Metal taste in the mouth
Mild to moderate depression
Decreased ability to think problems through
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What is dialysis?
The types of treatment for kidney failure include hemodialysis and peritoneal dialysis. Hemodialysis is a procedure that removes extra fluid, electrolytes and wastes using a dialysis machine either at home or at a dialysis center. Peritoneal dialysis is a type of dialysis that removes extra fluid, electrolytes and wastes using the lining of the abdominal cavity (peritoneum). There are two types of peritoneal dialysis: Continuous ambulatory perintoneal dialysis (CAPD) is dialysis that is done on a continuous basis with exchanges four times a day. Continuous cyclic peritoneal dialysis (CCPD) is dialysis that is done during the night using a machine to make the exchanges while you sleep.

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What is a transplant?
With transplantation, a healthy kidney is placed in the lower abdomen and takes over the function of the failed kidneys. Transplantation is usually a better long-term treatment than dialysis. Experience has shown us that ADPKD patients generally do well following kidney transplantation. Many transplant kidneys have worked well for 10-20 years, but others have stopped working sooner. With current medications to suppress rejection (the process by which the body tends to fight the transplanted kidney), 75 percent to 80 percent of transplanted kidneys work adequately for at least five years. There are many new drugs being developed, and it is hoped that some of these new medications will help to keep the transplanted kidney functioning for many years.





In this section, you'll find links to other web resources on a variety of PKD-related topics. Some of these sites are hosted by individuals, while others are run by professional organizations, government agencies or corporations. Please note that this list is a reference tool, and the information on each site is the sole expressed intent of the individual authors and not that of the PKD Foundation.

Patient Resources
Medical and Health
Diet and Nutrition
Chat Rooms, Message Boards, Blogs and Listserves
Dialysis
Transplant
Patient Support
U.S. Government Organizations
Professional Organizations
Journals
Research
PKD Information in Other Languages



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Patient Resources

Medical and Health

Brigham and Women's Hospital Renal Division Patients Resources
Brigham Renal Genetics Center
GeneClinics — Online publication of the University of Washington, provides a disease profile on ARPKD.
Clinical Trials.com — Your source for comprehensive information for current clinical trials being conducted nationwide.
GeneSage — Provides up-to-date human genetic information and resources for consumers and healthcare professionals.
GeneTests — Promotes the appropriate use of genetic counseling and genetic testing in patient care; provides reliable, easy-to-use and current genetic testing information for the benefit of families and their healthcare providers.
HALT PKD—Polycystic Kidney Disease Treatment Network
Healthfinder®
Medinex — the Medical Community for Doctors & Their Patients
MedicineNet.com — Online healthcare destination for 100% doctor produced medical information.
MEDLINEplus — The National Library of Medicine's MEDLINEplus information pages are designed to direct you to resources containing information that will help you research your health questions.
NephrologyLinx - is a free and easy tool designed to keep nephrology professions and others interested in kidney disease up-to-date with the latest medical developments.
RxList — The Internet Drug Index
Transplant Living, Your prescription for Transplant Information
University of Colorado Health Sciences Center PKD Research Group
Urology Network
WebMD — a full-service Internet healthcare portal
Your Genes, Your Health — An easy-to-understand, visual orientation to the genetics of PKD.
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Diet and Nutrition

American Heart Association's Delicious Decisions --> --> -->li>American Heart Association Dietary Recommendations
Cleveland Clinic Renal Diet Cookbooks
Creating a Healthy Menu — A Computer Program Especially for Kidney Patients and for Everyone Else
Nutrition Analysis Tool
Nutrition Resources
Protein Index
The Renal Family Cookbook
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PKD Chat Rooms, Message Boards, Blogs and Listserves
Note: The PKD Foundation does not control or monitor the information provided in chat rooms.

Julia Roberts' blog about her children, Gage and Quinn
Kirsten Sclater-Booth's blog about her son Luke's experiences with ARPKD
Heather Oman's blog about living with ADPKD
Nathan's PKD blog

ARPKD Listserve — For anyone who's lives have been affected by ARPKD.
ARPKDLOSS Listserve — Support for people who've lost children to ARPKD.
PKD E-mail Support Group List Serve Send an e-mail message to: listserv@cirs.org.
Leave subject heading blank, and on the first MESSAGE line, type: subscribe
pkdsupportgroup.
PKD Care - To be a part of the PKD Care Listserve, email PKDCARE@yahoogroups.com

Beth's PKD Chat Room (Wed. at 9:00 P.M. EST)
Mary Elizabeth's PKD Chat Room (Mon. at 9:00 P.M. to 10:00 P.M. Central time)
Onelist PKD Chat Room
POLYCYSTS AOL Chat Room (Mon. at 9:00 P.M. EST) Email Deb Case for more information.
Polycystic Kidney disease chat & community


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Dialysis

Davita Patient Citizens - not-for-profit organization dedicated to improving the quality of life for people with chronic kidney disease and those on dialysis
DialysisFinder
Dialysis Outcomes Quality Initiative (DOQI)
Forum of End-Stage Renal Disease Networks
Global Dialysis
Life Options Rehabilitation Program — resources for professionals and patients with kidney failure
RenalWEB — Vortex Web Site of the Dialysis World
Virtual Dialysis
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Transplant

Coalition on Donation
The Gift of Life Foundation
The Transplant Patient Partnering Program
TransWeb

National Foundation for Transplants
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Patient Support
United States

Alliance of Genetic Support Groups
American Association of Kidney Patients
American Kidney Fund
Kidney and Urology Foundation
National Kidney Foundation
National Foundation for Transplants
International

The Australian Kidney Foundation
The Kidney Foundation of Canada
Kidney Research UK
World Kidney Fund — Established in response to the plight of kidney failure victims in developing countries, who have little or no access to healthcare facilities.
Mutation Database Autosomal Recessive Polycystic Kidney Disease
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U.S. Government Organizations

National Institutes of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Division of Kidney, Urologic, and Hematologic Diseases (DKUHD)
U.S. National Library of Medicine
Congressional Kidney Caucus
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Professional Organizations

United States

American Medical Association (AMA)
American Nephrology Nurses Association (ANNA)
American Society of Nephrology (ASN)
American Society of Pediatric Nephrology (ASPN)
American Society of Transplantation (AST)
American Society of Transplant Surgeons (ASTS)
The Renal Physicians Association (RPA)
International

The Australian and New Zealand Society of Nephrology
Brazilian Society of Nephrology
International Society of Nephrology (ISN)
International Society for Peritoneal Dialysis (ISPD)
Italian Society of Nephrology
Japanese Society of Nephrology --> --> -->li>Latin American Society of Nephrology and Hypertension
The Renal Association (United Kingdom)
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Journals

United States

Hypertension Dialysis Clinical Nephrology (HDCN) — Renal Diseases Electronic Journal --> --> -->li>Journal of the American Society of Nephrology (JASN)
Journal of Renal Nutrition
International

Kidney International
MEDWORLD — listing of biomedical and clinical journals on-line
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Research

International PKD Gene Mutation Registry (Temporarily Off-Line.)
PubMed (Medline)
Talks from the 9th Annual Conference on Polycystic Kidney Disease
United States Renal Data System (USRDS)
Community of Science Funding Opportunities — Publishes updated information about grants from around the world and alerts researchers each week about these opp



Thanks for your help. Help me illuminate a subject that rarely gets looked at...

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