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(CBS) Imagine re-growing a severed fingertip, or creating an organ in the lab that can be transplanted into a patient without risk of rejection. It sounds like science fiction, but it’s not. It’s the burgeoning field of regenerative medicine, in which scientists are learning to harness the body’s own power to regenerate itself, with astonishing results. Correspondent Wyatt Andrews brings you to the scientific frontier.
Three years ago, Lee Spievack sliced off the tip of his finger in the propeller of a hobby shop airplane.
What happened next, Andrews reports, propelled him into the future of medicine. Spievack’s brother, Alan, a medical research scientist, sent him a special powder and told him to sprinkle it on the wound.
“I powdered it on until it was covered,” Spievack recalled.
To his astonishment, every bit of his fingertip grew back.
“Your finger grew back,” Andrews asked Spievack, “flesh, blood, vessels and nail?”
“Four weeks,” he answered.
Andrews spoke to Dr. Steven Badylak of the University of Pittsburgh’s McGowan Institute of Regenerative Medicine and asked if that powder was the reason behind Spievack’s new finger tip.
“Yes, it is,” Badylak explained. “We took this and turned it into a powdered form.”
That powder is a substance made from pig bladders called extracellular matrix. It is a mix of protein and connective tissue surgeons often use to repair tendons and it holds some of the secrets behind the emerging new science of regenerative medicine.
“It tells the body, start that process of tissue regrowth,” said Badylak.
Badlayk is one of the many scientists who now believe every tissue in the body has cells which are capable of regeneration. All scientists have to do is find enough of those cells and “direct” them to grow.
“Somehow the matrix summons the cells and tell them what to do,” Badylak explained. “It helps instruct them in terms of where they need to go, how they need to differentiate - should I become a blood vessel, a nerve, a muscle cell or whatever.”
If this helped Spievack’s finger regrow, Badylak says, at least in theory, you should be able to grow a whole limb.
Read more at CBS
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Karima Hijane could not believe what she was hearing: The obstetrician who for two years had insisted that her mystifying constellation of symptoms was the result of stress had discovered the real cause, imparting devastating news that would alter Hijane’s plans for her future.
Now this trusted doctor, who had delivered her only child several years earlier, was telling the IT consultant to make an appointment to discuss the results — in two weeks.
“I think perhaps she was shocked and didn’t know what to say,” Hijane, 34, speculated. She remembers feeling numb during that March 2007 phone call, then weeping in the privacy of her Northern Virginia office before heading off to client meetings during which, she said, she acted “like a robot.”
For more than two years, Hijane had made the rounds of various specialists: an endocrinologist, a rheumatologist, an orthopedic surgeon and several internists. Yet none ordered the blood test that would have revealed the reason for her night sweats, insomnia, light periods and, possibly, her persistent bone pain.
“She’s representative of what happens to the patients we see,” said research gynecologist Lawrence M. Nelson of the National Institute of Child Health and Human Development (NICHD). Six weeks after receiving the life-altering news, Hijane checked into the clinical center at the National Institutes of Health to participate in a long-running study of the disorder, which affects about 1 percent of women younger than 40.
“A lot of the patients we see think they’re going crazy,” said Nelson, who sees about two new patients per week with the same diagnosis as Hijane’s. “It’s appropriate for doctors to ask about stress. The mistake is to assume that’s what it is.”
In Hijane’s case, he added, her first symptom, bone pain, was something of a red herring that initially may have led doctors in the wrong direction.
Hijane said her problem began several months after the birth of her son in December 2004. During the pregnancy she developed a complication involving a separation of the pubic bones; the baby was delivered by Caesarean section. Stressing that a second pregnancy would be dangerous before the pubic separation healed, her obstetrician prescribed birth control pills, which Hijane began taking.
Several months later she was bothered by pain in her right hand. Doctors told her it was probably caused by computer use. When it continued, her OB-GYN referred her to an orthopedic surgeon, who found nothing amiss. Soon the pain began spreading to other parts of her body and was sometimes accompanied by muscle twinges. She began experiencing new problems: intermittent migraines, painful intercourse and light periods. Some nights she would awaken bathed in sweat. Blood tests, X-rays and an MRI revealed nothing.
“They told me it was stress,” Hijane recalled. She was young and healthy, the doctors assured her. She just needed to relax.
“After a while,” she said, “their reactions made me feel like a whiner, like I was making up all of these bizarre symptoms.”
In 2006, after the bone pain continued, the obstetrician sent her to a rheumatologist, who performed a work-up for arthritis. She, too, found nothing.
“She suggested I should work out,” Hijane said.
A visit to an ear, nose and throat specialist for the migraines did nothing to relieve the headaches. He did find two nodules on her thyroid and sent her to an endocrinologist, who ordered a standard blood chemistry panel — but not the blood test that would have immediately revealed the reason for her other symptoms. A few months later Hijane was back in the gynecologist’s office, complaining of vaginal dryness and painful intercourse; the doctor treated her for a possible yeast infection.
At one point, Hijane said, her frustrated OB-GYN told her there was nothing more she could do and suggested Hijane gather her records and take them to the Cleveland Clinic or another major medical center. “She said, ‘I do believe there’s something wrong with you, but we don’t know what it is,’ ” Hijane recalled.
By November 2006, more than a year after her symptoms began, Hijane noticed that at times during the day she felt overwhelmingly hot. Her insomnia and night sweats had gotten worse, and her periods had dwindled to occasional spotting. Hijane’s husband, who searched the Internet for possible causes, decided the problem might be the birth control pills. Hijane stopped taking them and began to feel slightly better.
But in February 2007, when she hadn’t gotten her period for three months, Hijane returned to the obstetrician.
Thinking she might be pregnant, the doctor ordered a pregnancy test. When that was negative, she ordered another blood test: for FSH, or follicle-stimulating hormone, which is essential to reproduction; levels rise when the ovaries fail to produce enough estrogen.
Hijane’s level showed she was squarely in the post-menopausal range. She was 33 years old, 18 years younger than the average age of menopause.
Hijane’s elevated FSH level explained many of her symptoms: insomnia, night sweats, painful intercourse, hot flashes, light and dwindling periods. It did not account for bone pain (a possible cause would emerge later at NIH) or her migraines.
Hijane’s doctor told her she had premature ovarian failure, or POF, and was in menopause for reasons that were unclear. Hijane was crushed: She and her husband had wanted more children.
The condition, also known as POI, for premature ovarian insufficiency, affects 1 in 200 women by age 35, said Nelson of NICHD. The condition was first described in the 1940s by a Harvard physician who is regarded as the father of modern endocrinology, and it is diagnosed on the basis of two blood tests, FSH and estradiol.
The disorder has several causes, among them chemotherapy and a genetic disorder called fragile X syndrome; in many cases, Hijane’s included, the cause is unknown. There is no cure, though doctors typically place patients on replacement hormones until about age 50 to ease symptoms and protect their bones from osteoporosis. POI patients face an elevated risk of heart disease, dry eye and other problems.
Days after her diagnosis, Hijane found Nelson, head of NICHD’s Integrative Reproductive Medicine Unit, during an online search. She was accepted as a patient and in early May underwent a three-day inpatient evaluation at NIH.
Doctors discovered she was severely deficient in Vitamin A and Vitamin D, as are many POI patients, said Nelson, who has seen about 1,000, the youngest of whom was 13. Although it is not clear that her bone pain was related to Vitamin D deficiency, Hijane said the pain vanished after she took the huge doses of Vitamin D prescribed by NIH specialists. She also began wearing an estrogen patch.
Her husband, she said, has been supportive. “He said, ‘I didn’t marry your ovaries; I married you.’ He has been there for me. And all the doctors at NIH have been great.”
Her greatest regret, she said, is the toll two years of undiagnosed medical problems took on her young son. “I was not able to enjoy him,” she said. “I was in pain, I had bad depression, I was irritable. I lost my mom when I was 3, and I worried that history was repeating itself.”
Hijane quit her job shortly after she was diagnosed and has since founded Rachel’s Well, a nonprofit group that lobbies on behalf of women’s health.
Nelson, a member of the group’s board, said he think Hijane’s diagnostic ordeal could have been prevented. Although POI is uncommon, the average gynecologist probably sees a case every five years or so.
“Over half the women we’ve seen had seen over three different doctors before an FSH test was ordered,” he said. “It takes some out-of-the-box thinking in that 15-minute window” that many doctors allot for each patient visit. “The health-care community needs to be more aware of this.”
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Many people had asked me: “I thought cancer is incurable? How do you cure it?”
The goal of cancer treatment is to kill or inactivate all the cancerous cells in the body. There are few ways that this can be done: (1) cut out all the cells through surgery, (2) by using using radiation to destroy (“zap”) the cancerous cells, (3) by taking medicine (injected or oral) to put molecules in the body that can cause the cancer cells to die, and (4) by getting the immune system to recognize the cancer cells and triggering the immune system’s NK-cells and T-cells to kill the cancerous cells.
The choice of treatment method depends on the nature of the cancer, the location of the cancerous tumor, and how far the cancer cells have spread. Sometimes doctors will combine different treatment methods to control a cancer.
(1) Surgery - This is the most straightforward way to address a cancer - a surgeon operates on the patient to cut out a tumor. This is practical only if the tumor can be safely removed without destroying the organ’s ability to function. For example, small tumors in the colon can usually be removed through surgery because cutting a portion of the colon won’t affect the overall ability of the body to function (there is about 5 feet of colon in the body, and the colon is like a pipe which can be cut and rejoined). Surgery isn’t practical in cases where the tumor cannot be removed without destroying the organ. For example, in some stomach cancers, instead of growing polyp like tumors which can be cut off the stomach, some cancer tumors grow as diffuse tumors where they spread out and grow along the surface of the stomach. In such cases, it is can be very difficult to remove the tumor without destroying the stomach.
If the cancer has not grown out of the original host organ and is still within its boundaries, (ie. stage 1 cancer), then surgery can potentially be a cure for the cancer. There is a good chance that the cancerous cells are only in the tumor and nowhere else, so removing the tumor through surgery can potentially remove all the cancerous cells from the body. However, if the cancer tumor has already grown out of the original organ (stage 2, 3 or 4) cancers, then surgery would only be a temporary stop-gap measure. Removing the primary tumor would help to reduce the tumor burden on the body (less stressful for the body), but there is a high possibility that cancer cells are already present in small numbers elsewhere in the body. The problem is that there are probably millions of the cells circulating in the body, and many of them would just be small groups of cells that are not visible as tumors. It would be impossible for surgery to find and remove all of them (they may also be in the blood stream). Nonetheless, where possible, doctors will often recommend removing the primary tumor first, just to reduce the tumor burden on the body and “buy time” to try other treatments.
(2) Radiotherapy (or radiation therapy) - this refers to the use of radiation to kill cancer cells. There are two ways this can be done: (1) using a machine to project radiation beams into the body, or (2) injecting or putting small bits of radioactive material in the body near the tumor. Projecting radiation from an external machine is commonly done to destroy cancer cells that are difficult to remove surgically. It is also used in some cases where a primary tumor has been removed surgically, to radiate the area around the primary tumor. This is done in the belief that the radiation will destroy and remaining cancer cells that may have been left behind in the general area after the main tumor was removed. (Cancer cells are very small and cannot be seen by the naked eye, nor can they be seen by CT scans. Even if there is no visible tumor in the body, it is possible that small clusters of cancer cells may be present) The key drawback to radiotherapy is that the radiation also kills normal healthy cells. In effect, the patient will get some degree of radiation burn when radiotherapy is used. This can cause bleeding, peeling skin, pain and other effects associated with exposure to radiation. Doctors have to look at each patient’s case carefully, to make sure that radiation therapy won’t cause more harm than benefit.
In cases where cancer cells have already spread into the bloodstream or lympathic system (i.e. metastatic cancers, stage 4), then radiation therapy is often not used because its side effects far outweigh its benefits. Since the cancerous cells are already “running around” the rest of the body and in the bloodstream, radiation therapy to a particular spot on the body won’t do much good.
(3) Chemotherapy - this refers to taking medicine to control cancerous cells. Depending on the medicine being used, it may be either injected (intravenous) or taken orally. Apart from injecting chemotherapy medicine in through the arm, some medicines may need to be injected through blood vasculature somewhere else in the body (e.g. near the heart). This is usually done either because because medicine would overload the relatively small blood vessels in the arm, or to deliver the chemotherapy closer to the tumor’s location. In these cases, Instead, a tube needs to inserted into a vein near the heart where the blood vessels are stronger, and the chemotherapy medicine injected in through the tube. As a result, many chemotherapy patients have some form of catheter surgically installed so that chemotherapy can be delivered regularly.
Chemotherapy treatments usually take place in cycles. (The exact duration and nature of the cycles depends on the medicine being prescribed). A common cycle is 3-week cycle, where a patient is given chemotherapy for a 1-3 day period, then waits for 3 weeks before the next dosage is delivered. For injected chemotherapy, each chemotherapy session may last up to 4-5 hours, as the medicine is slowly dripped (IV drip) into the body. Some medicines may need to be delivered slowly over a 24-48 hour period. In such cases, the patient is given a portable pump to be worn until all the medicine has been injected into the body.
Chemotherapy medicine tries to destroy cancer cells in one of the following ways:
(1) by attacking all cells that are undergoing multiplication - because cancer cells multiply very often, it is hoped that this attack will disable them as they try to reproduce. The side effect is that many normal cells in the body also undergo regular reproduction. For example, the cells in your mucus membrane in the mouth and throat and regularly renewed - old cells die and new cells are created through cellular division (mitosis). This type of chemotherapy medicine will affect these cells too, leaving patients prone to mouth ulcers and other side effects.
Image Above: An antibody molecule. The Y-shaped variable end is like a jigsaw puzzle piece. It attaches itself to other molecules or cells in the body. In the case of cancer therapies, the variable portion is created in a shape that allows it to connect to certain parts of cancer cells. The other side of the antibody molecule can attach to other molecules, such as immune system cells, in the body. In a sense, an antibody molecule is like a matchmaker - it attaches to one thing on the straight side, then attaches to something else on the Y-side, thus bringing two molecules/cells together. Image Source: Wikimedia Commons.
Image Below: Antibody molecules attaching themselves to a tumor cell. Some of the antibodies shown are being used to bring radioactive molecules to a cancer cell to kill it. Others just attach themselves to the tumor cell so that certain cellular signals are not received by the tumor cell.
(2) by preventing cancerous cells from receiving signals or sending “kill yourself (apoptosis)” triggers to cancerous cells. Recall that cancer cells, like all cells, react to ligand molecules that bind to receptors on their surface. These ligand molecules can trigger the cell, through cell signaling pathways, to do certain things, like grow, or die. Some chemotherapy medicine are specially designed molecules which can connect to certain receptors on the cancerous cells, and either trigger them to die, or prevent other ligand molecules from connecting to them and triggering them to continue duplicating. For example, many colon cancer cells have an excess of Epidermal Growth Factor receptors (EGFr) on their surface, and normal EGF and Transforming Growth Factor-alpha molecules in the body bind with these receptors and trigger the cancer cells to continue growing. The chemotherapy drug Erbitux (cetuximab) is a molecule that binds to these EGFr receptors, thus “plugging them up” and preventing the other normal molecules from connecting to the receptors. This prevents the cancer cells from being triggered to continue growing. Many such chemotherapy medicines are known as monocolonal antibodies because their molecules are similar in principle to antibodies manufactured by our own bodies.
(3) by preventing cancer cells from forming tumors. Remember that cancers usually only become fatal when they grow into large tumors which destroy an organ’s ability to function. So, a medication that tries to prevents clusters of cancer cells from becoming a tumor might be able to prolong life. Strange as it sounds, but tumors are like a mini-organ which need to have blood vessels growing into them, so that they can receive nutrients and remove waste. To trick the body’s normal blood vessels into growing an extension into the tumor, cancer cells secrete VEGF protein molecules. When these molecule come into contact with VEGF receptors on normal blood vessel cells, they cause the blood vessel cells to extend the blood vessel (like a new tree branch) into the tumor. Chemotherapy medicines like Avastin (bevacizumab) try to prevent this. Avastin is a ligand molecule that binds to the VEGF receptors on regular blood vessel cells without causing them to grow. In effect, they are “plugging the receptors” so that VEGF protein molecules from the cancerous cells cannot connect to them. As a result, the tumor is unable to attract a blood vessel to grow into it, and is unable to get nutrients which it needs to grow bigger. An interesting side effect of Avastin is that it also causes the existing blood vessels in the tumor to “straighten out”. This makes it easier for other chemotherapy medicines to get into the center of tumors and start killing cancer cells at the center of the tumor.
As with all medications, chemotherapy has side effects. Side effects depend on the medicine being taken, but common side effects include feeling numbness in the extremities, memory loss, nausea, hair loss and fingernails turning dark purple. Doctors can usually prescribe other medications to counter side effects like nausea, but you should always tell the doctor about the side effects you are experiencing. Most side effects are non-fatal and expected, but some may be an indication of a more serious problem occurring in the body and your doctor is the best person to make that assessment.
All chemotherapy medicines also carry a small, but definite risk of a fatal allergic/hyper-sensitivity reaction. For example, the drug oxaliplatin which is based on platinum, is known to cause a fatal reaction in some patients. So some medical protocols call for a doctor to be present the first time such a drug is injected, in case a dangerous reaction occurs.
Image: Macrophages, a type of cell that makes up the immune system, attacking a cancer cell. Source: Dr. Raowf Guirguis. National Cancer Institute.
(4) Immunotherapy - this refers to the process of getting your body’s immune system to recognize the cancer cells and start attacking them. There is a belief among many in the medical research community that immunotherapy holds the best promise in finding a cure for cancer, because the immune system can potentially hunt down and destroy every last cancerous cell without causing too much damaging side effects. Immunotherapy is a relatively new area in research terms, and there are new developments coming out very often. The Stanford Cancer Center (link on the right) is one of the main centers for this type of research, and I encourage you to explore their website. The idea behind immunotherapy is to get the immune system to detect the cancerous cells. In many cases, the surveillance cells in the immune system treat cancerous cells as normal cells, and do not initiate an attack to kill them. It is not entirely understood why this happens. Some attempts to make cancerous cells recognizable are to inject monoclonal antibody molecules which can bind to cancerous cells with one side of the molecule, and leave another side of the molecule on the outside of the cancerous cell. The exposed side of the molecule would ideally be something that makes the immune system see the cell as dangerous, and get it to attack and kill it.
Another approach has been to get the immune system to go into a heightened state of alert, so that it will see cancerous cells for what they are. It is thought that some molecules in foods like certain mushrooms can make trigger the immune system into a higher state of alert, because of beta-glucan molecules that exist in many mushrooms. It is theorized that some beta-glucan molecules may look like the outer coatings of dangerous bacteria, and when the immune system sees them, it goes into a high-alert state. Researchers at Memorial Sloan Kettering’s Integrative Medicine Service have or are conducting trials of certain foods/herbs like Maitake mushrooms, Astragalus and Ashgawandha to see if they affect the immune system this way. (The link is on the right)
I would advise you to tell your doctor if you are taking any supplements or herbs for this purpose. All such foods can have potential side effects which can interfere with your chemotherapy. For example, grapefruit is known to reduce the effectiveness of many forms of chemotherapy. All foods have bio-active compounds that interact in some way with medicines and your body’s molecules. Just because something is natural doesn’t mean it won’t cause any unintended side effects when it is taken with medicine.
Book recommendation: I highly recommend the book “Chemotherapy and Radiation Therapy Survival Guide” for anyone who has to undergo chemotherapy or radiation therapy. It explains the effects on patients from a nursing perspective. I found it extremely useful to know beforehand what the treatement entailed. Nothing beats being prepared - it is a exhausting and potentially painful treatment, and being prepared helps a lot. The link to the book is on the right hand side bar of this page.
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∞ How to Help Someone Having a Panic Attack
WikiHow has made a wonderful entry teaching us how to help someone who is going into or is already in panic attacks.
Panic attacks are sudden, discrete periods of intense anxiety, mounting physiological arousal, fear, stomach problems (spastic colon) and discomfort that are associated with a variety of somatic and cognitive symptoms. Experiencing a panic attack is said to be one of the most intensely frightening, upsetting and uncomfortable experiences of a person’s life, so it is essential that we learn how to help people whom are having panic attack.
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Doctors know which prescription and over-the-counter drugs are the most dangerous. Which medications would we skip?
Advair
It‘s asthma medicine that can make your asthma deadly. Advair contains the long-acting beta-agonist (LABA) salmeterol. A 2006 analysis found that regular use of LABAs can increase the severity of an asthma attack. Researchers estimate that salmeterol may contribute to as many as 5,000 asthma-related deaths in the United States each year.
Avandia
Diabetes is destructive enough on its own, but if you try to control it with rosiglitazone, better known as Avandia, it could cause a heart attack. A study found that people who took rosiglitazone for at least a year increased their risk of heart failure or a heart attack by 109 percent and 42 percent, respectively.
Celebrex
This painkiller has been linked to increased risks of stomach bleeding, kidney trouble, and liver damage. And according to a 2005 study, people taking 200 mg of Celebrex twice a day more than doubled their risk of dying of cardiovascular disease. Those on 400 mg twice a day more than tripled their risk.
Ketek
This antibiotic, which has traditionally been prescribed for respiratory-tract infections, carries a high risk of severe liver side effects. In February 2007, the FDA limited the usage of Ketek to the treatment of pneumonia.
Prilosec and Nexium
The FDA has investigated a suspected link between cardiac trouble and these acid-reflux remedies, although they did not find a “likely” connection. But whether this is true or not, they can raise your risk of pneumonia, and result in an elevated risk of bone loss. The risk of a bone fracture has been estimated to be over 40 percent higher in patients who use these drugs long-term.
Visine Original
These eye drops “get the red out” by shrinking blood vessels. Overuse of the active ingredient tetrahydrozoline can perpetuate the vessel dilating-and-constricting cycle and may cause even more redness.
Pseudoephedrine
This decongestant, found in many drugs, can raise blood pressure and heart rate, setting the stage for vascular catastrophe. Over the years, pseudoephedrine has been linked to heart attacks and strokes, as well as worsening the symptoms of prostate disease and glaucoma.
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∞ One-Third of Uninsured Are Chronically IlIOne-Third of Uninsured Are Chronically Ill
… didn’t specifically look at the health consequences of lack of insurance and lack of access to medical care, it’s reasonable to assume that these factors would lead to various medical…
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∞ Hybrid Medical Animation
The Hybrid Interactive Heart is an exploration into the various and novel ways a beating heart may be visually represented using the latest technology. In this case, they are giving us the ability to…
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Congenital disorder or malformation is a birth defect. It is a result of genetic abnormalities, the intrauterine (uterus) environment, errors of morphogenesis, a chromosomal abnormality, or a complex mix and unknown factors.
Here’s a list of some of the most unusual birth defects.
Aglossia
(Photo courtesy of Indian Society of Pedodontics and Preventive Dentistry)
Aglossia is the absence of tongue at birth. This tongue anomaly is frequently found in persons who have other congenital or developmental defects particularly limb and other cranio-facial defects.
Albinism
(Photo courtesy of Wikipedia)
Albinism is a congenital absence of normal pigmentation. It is characterized by partial or total lack of melanin pigment in the eyes, skin and hair. People who have this condition have visual difficulties like hypersensitivity to bright light and glare and many others.
Anencephaly
Anencephaly is the absence of brain and spinal chord, a congenital defect. There is no cure or standard treatment for anencephaly and the prognosis for affected individuals is poor. Most anencephalic babies do not survive birth.
Aniridia
(Photo courtesy of Wikipedia)
Aniridia is the absence of the iris at birth. This usually occurs in both eyes. It is associated with poor development of the retina at the back of the eye preventing normal vision development.
Apodal
(Photo courtesy of PalmBeachPost.com)
Apodal is the congenital condition of having no feet.
Brachydactylia
(Photo courtesy of Visindavefurinn)
Brachydactylia is an abnormal condition of shortness of fingers. The picture above shows a child fingers and an adult with brachydactylia.
Cleft Foot and Hand
(Photo courtesy of Indian Pediatrics)
Cleft foot and hand also known as split or lobster foot and hand or partial adactyly is a rare inherited anomaly in which a single cleft extends promixally into the foot/hand. It usually occurs in conjunction with clawing of the hand
Club foot
(Photo courtesy of Wikipedia)
Club foot is a congenital foot deformity. The foot is twisted in (inverted) and down. There is no treatment that’s why persons afflicted often appear to walk on their ankles, or on the sides of their feet.
Heterochromia
(Photo courtesy of Wikipedia)
Heterochromia (also known as a heterochromia iridis or heterochromia iridium) is an ocular condition in which one iris is a different color from the other iris. The subject on the photo above has a brown and hazel eye.
Polydactyly
(Photo courtesy of UNSW Embryology)
Polydatyly is the presence of additional toes or fingers also called polydactylia or polydactylism. The condition is often treated surgically in the infant.
Syndactyly
Syndactyly is the fusion of fingers or toes which may be single or multiple and may affect: skin only, skin and soft tissues or skin, soft tissues and bone.
Adermia
Adermia is the absence of skin, congenital or acquired
Aglossostomia
Aglossostomia is the absence of a tongue or mouth at birth
Agonad
Agonad is an individual without sex gland (testes or ovary).
Anonychia
Anonychia is a rare birth malformation characterized by absence of nails.
Atelocephalus
Atelocephalus is a condition of having an incomplete head.
Athymia
Athymia is a condition of a person without emotion or feelings due to the congenital absence of the thymus gland
Chromatelopsia
Chromatelopsia is a condition of color-blindness and the opposite of chromatopsia, a visual defect in which colorless objects appear to be tinged with color.
Darwinian ear
Darwinian ear is a congenital deformity of the helix of the ear.
It is a sad fact that thousands are afflicted by these birth defects. Fortunately, some of these malformations can be corrected medically but unfortunate for others because many of these congenital disorders present no medical solution.
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The Woman Who has 200 Orgasms every day
UK’s Sarah Carmen, 24, is a 200-a-day orgasm girl who gets good, good, GOOD vibrations from almost anything. She suffers from Permanent Sexual Arousal Syndrome (PSAS), which increases blood flow to the sex organs. “Sometimes I have so much sex to try to calm myself down I get bored of it. And men I sleep with don’t seem to make as much effort because I climax so easily.”
She believes her condition was brought on by the pills. “Within a few weeks I just began to get more and more aroused more and more of the time and I just kept having endless orgasms. It started off in bed where sex sessions would last for hours and my boyfriend would be stunned at how many times I would orgasm. Then it would happen after sex. I’d be thinking about what we’d done in bed and I’d start feeling a bit flushed, then I’d become aroused and climax. In six months I was having 150 orgasms a day—and it has been as many as 200.”
She and her boyfriend split— and new partners struggle to keep up with her sex demands. “Often, I’ll want to wear myself out by having as many orgasms as I can so they stop and I can get some peace,” she said.
The Man Who Can’t Get Fat
Mr Perry, 59, can eat whatever he likes - including unlimited pies, burgers and desserts - and never get fat. He cannot put on weight because of a condition called lipodystrophy that makes his body rapidly burn fat.
He used to be a chubby child, but at age 12 the fat dropped off “almost over night”. He initially tried to eat more to gain weight, but it had no effect. Mr Perry, of Ilford in Essex, endured a decade of tests before the illness was diagnosed. It finally emerged that his body produces six times the normal level of insulin. Doctors have admitted that the condition would be a “slimmer’s dream”.
The Man Who Doesn’t Feel Cold
Dutchman Wim Hof, also known as the Iceman, is the man that swam under ice, and stood in bins filled with ice. He climbed the Mt. Blanc in shorts in the icy cold, harvested world records and always stands for new challenges.
Scientists can’t really explain it, but the 48-year-old Dutchman is able to withstand, and even thrive, in temperatures that could be fatal to the average person.
The Boy Who Couldn’t Sleep: stayed awake 24 hours a day for years
Rhett Lamb is often cranky like any other 3-year-old toddler, but there’s one thing that makes him completely different: he has a rare medical condition in which he can’t sleep a wink.
Rhett is awake nearly 24 hours a day, and his condition has baffled his parents and doctors for years. They took clock shifts watching his every sleep-deprived mood to determine what ailed the young boy.
After a number of conflicting opinions, Shannon and David Lamb finally learned what was wrong with their child: Doctors diagnosed Rhett with an extremely rare condition called chiari malformation.
“The brain literally is squeezed into the spinal column. What happens is you get compression, squeezing, strangulating of the brain stem, which has all the vital functions that control sleep, speech, our cranial nerves, our circulatory system, even our breathing system,” Savard said.
The Girl Who is Allergic to Water
Teenager Ashleigh Morris can’t go swimming, soak in a hot bath or enjoy a shower after a stressful day’s work - she’s allergic to water. Even sweating brings the 19-year-old out in a painful rash.
Ashleigh, from Melbourne, Australia, is allergic to water of any temperature, a condition she’s lived with since she was 14. She suffers from an extremely rare skin disorder called Aquagenic Urticaria - so unusual that only a handful of cases are documented worldwide.
The Woman Who Can’t Forget
That’s the story of AJ, an extraordinary 40-year-old married woman who remembers everything.
McGaugh and fellow UCI researchers Larry Cahill and Elizabeth Parker have been studying the extraordinary case of a person who has “nonstop, uncontrollable and automatic” memory of her personal history and countless public events. If you randomly pick a date from the past 25 years and ask her about it, she’ll usually provide elaborate, verifiable details about what happened to her that day and if there were any significant news events on topics that interested her. She usually also recalls what day of the week it was and what the weather was like.
The 40-year-old woman, who was given the code name AJ to protect her privacy, is so unusual that UCI coined a name for her condition in a recent issue of the journal Neurocase: hyperthymestic syndrome.
The Girl Who Eats Only Tic Tacs
Meet Natalie Cooper, a 17-year-old teenager who has a mystery illness that makes her sick every time she eats anything. Well, almost anything. She can eat one thing that doesn’t make her sick: Tic tac mint!
For reasons that doctors are unable to explain, Tic tacs are the only thing she can stomach, meaning she has to get the rest of her sustenance from a specially formulated feed through a tube.
The Musician Who Can’t Stop Hiccupping
Chris Sands, 24, from Lincoln, hiccups as often as every two seconds - and sometimes even when he is asleep. He has tried a variety of cures, including hypnosis and yoga, but nothing has worked. Mr Sands thinks his problem stems from an acid reflux condition caused by a damaged valve in his stomach. “If the acid levels are severe enough they are going to do keyhole surgery and grab part of my stomach and wrap it around the valve to tighten it,” he said.
Mr Sands, who is a backing singer in the group Ebullient, said the condition has hampered his career as he has only been able to perform four times. In the next couple of weeks —as of the day of the report—, doctors at Nottingham’s Queen’s Medical Centre will put a tube into his stomach to monitor acid levels and decide if keyhole surgery is possible.
The Girl That Collapses Every Time She Laughs
Kay Underwood, 20, has cataplexy, which means that almost any sort of strong emotion triggers a dramatic weakening of her muscles. Exhilaration, anger, fear, surprise, awe and even embarrassment can also cause sufferers to suddenly collapse on the spot.
Kay, of Barrow-upon-Soar, Leicestershire (UK), who was diagnosed with the condition five years ago, once collapsed more than 40 times in a single day. She said: “People find it very odd when it happens, and it isn’t always easy to cope with strangers’ reactions. ”
Like most cataplexy sufferers, Ms Underwood is also battling narcolepsy - a condition that makes her drop off to sleep without warning. Narcolepsy affects around 30,000 people in the UK and about 70 per cent of them also have cataplexy.
The Woman Who is Allergic to Modern Technology
For most people talking on a mobile phone, cooking dinner in the microwave or driving in a car is simply part of modern living in 21st century Britain. But completing any such tasks is impossible for Debbie Bird - because she is allergic to Cell Phones and Microwaves.
The 39-year-old is so sensitive to the electromagnetic field (emf) or ‘smog’ created by computers, mobile phones, microwave ovens and even some cars, that she develops a painful skin rash and her eyelids swell to three times their size if she goes near them. As a consequence, Mrs Bird, a health spa manager, has transformed her home into an EMF-free zone to try and stay healthy. ‘I can no longer do things that I used to take for granted,’ Mrs Bird said. “My day-to-day life has been seriously affected by EMF”.
