Wednesday, April 30, 2014

Albinism

conditions. People with albinism have little or no pigment in their eyes, skin, or hair. They have inherited altered genes that do not make the usual amounts of a pigment called melanin. One person in 17,000 in the U.S.A. has some type of albinism. Albinism affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds. Sometimes people do not recognize that they have albinism. A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals with albinism have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Vision Problems

People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment varies with the different types of albinism and many people with albinism are “legally blind,” but most use their vision for many tasks including reading and do not use Braille. Some people with albinism have sufficient vision to drive a car. Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis of albinism. Therefore the main test for albinism is simply an eye examination.

Skin Problems

While most people with albinism are fair in complexion, skin or hair color is not diagnostic of albinism. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.

Types of Albinism

While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged and vision may be better. Early descriptions of albinism called these main categories of albinism “complete” and “incomplete” albinism. Later researchers used a test that involved plucking a hair root and seeing if it would make pigment in a test tube. This test separated “ty-neg” (no pigment) from “ty-pos” (some pigment). Further research showed that this test was inconsistent and added little information to the clinical exam.

Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Four forms of OCA are now recognized – OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.

Oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism) results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin.
Oculocutaneous albinism type 2 (OCA2 or P gene albinism) results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. Individuals with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown.
Oculocutaneous albinism type 3 (OCA3) is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.
Oculocutaneous albinism type 4 (OCA4) results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. Individuals with OCA4 make a minimal amount of melanin pigment similar to persons with OCA2.

Researchers have also identified several other genes that result in albinism with other features. One group of these includes at least eight genes leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.

Genetics of Albinism

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

Ocular albinism (OA1) is caused by a genetic defect of the GPR143 gene that plays a signaling role that is especially important to pigmentation in the eye. OA1 follows a simpler pattern of inheritance because the gene for OA1 is on the X chromosome. Females have two copies of the X chromosome while males have only one copy (and a Y chromosome that makes them male). To have ocular albinism, a male only needs to inherit one defective copy of the gene for ocular albinism from his carrier mother. Therefore almost all of the people with OA1 are males. Indeed, parents should be suspicious if a female child is said to have ocular albinism.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

For specific information and genetic testing, seek the advice of a qualified geneticist or genetic counselor. The American College of Medical Genetics and the National Society of Genetic Counselors maintain a referral list. Those considering prenatal testing should be made aware that people with albinism usually adapt quite well to their disabilities and lead very fulfilling lives.

Vision Rehabilitation

Eye problems in albinism result from abnormal development of the eye because of lack of pigment and often include:

Nystagmus: regular horizontal back and forth movement of the eyes
Strabismus: muscle imbalance of the eyes, “crossed eyes” (esotropia), “lazy eye” or an eye that deviates out (exotropia)
Photophobia: sensitivity to bright light and glare
People with albinism may be either far-sighted or near-sighted and usually have astigmatism
Foveal hypoplasia: the retina, the surface inside the eye that receives light, does not develop normally before birth and in infancy
Optic nerve misrouting: the nerve signals from the retina to the brain do not follow the usual nerve routes
The iris, the colored area in the center of the eye, has little to no pigment to screen out stray light coming into the eye. (Light normally enters the eye only through the pupil, the dark opening in the center of the iris, but in albinism light can pass through the iris as well.)

For the most part, treatment of the eye conditions consists of visual rehabilitation. Surgery to correct strabismus may improve the appearance of the eyes. However, since surgery will not correct the misrouting of nerves from the eyes to the brain, surgery will not improve eyesight or fine binocular vision. In the case of esotropia or “crossed eyes,” surgery may help vision by expanding the visual field (the area that the eyes can see while looking at one point).

People with albinism are sensitive to glare, but they do not prefer to be in the dark, and they need light to see just like anyone else. Sunglasses or tinted contact lenses help outdoors. Indoors, it is important to place lights for reading or close work over a shoulder rather than in front.

Various optical aids are helpful to people with albinism and the choice of an optical aid depends on how a person uses his or her eyes in jobs, hobbies, or other usual activities. Some people do well using bifocals which have a strong reading lens, prescription reading glasses, or contact lenses. Others use hand-held magnifiers or special small telescopes and some prefer to use screen magnification products on computers.

Some people with albinism use bioptics, glasses which have small telescopes mounted on, in, or behind their regular lenses, so that one can look through either the regular lens or the telescope. Newer designs of bioptics use smaller light-weight lenses. Some states allow the use of bioptic telescopes for driving.

Optometrists or ophthalmologists who are experienced in working with low vision patients can recommend various optical aids. Clinics should provide aids on trial loan and provide instruction in their use. The American Foundation for the Blind maintains a directory of low vision clinics. In Canada, support is available from the Canadian National Institute for the Blind.

Medical Problems

In the United States, most people with albinism live normal life spans and have the same types of general medical problems as the rest of the population. The lives of people with Hermansky-Pudlak Syndrome can be shortened by lung disease or other problems. Other conditions include Chediak-Higashi and Griscelli Syndrome.

In tropical countries, those who do not use skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreen lotions rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer.

People with albinism are at risk of isolation because the condition is often misunderstood. Social stigmatization can occur, especially within communities of color, where the race or paternity of a person with albinism may be questioned. Families and schools must make an effort not to exclude children with albinism from group activities. Contact with others with albinism or who have albinism in their families or communities is most helpful. NOAH can provide the names of contacts in many regions of the country.

Funding for the development and original printing of this information Bulletin was provided by the Innovating Worthy Projects Foundation of Somers Point, New Jersey. NOAH gratefully acknowledges their assistance. Revised 2007 by Rick Thompson, O.D., F.A.A.O. NOAH Board of Scientific Advisors, Kelsey Thompson, M.S., C.R.C., Chair, NOAH Editorial Committee.

Resources

Hermansky-Pudlak Syndrome Network

A NOAH affiliate providing information and support to individuals and families with HPS
One South Road
Oyster Bay, NY 11771-1905
Phone: 800-789-9HPS
Web: www.hpsnetwork.org

Positive Exposure

A nonprofit organization offering innovative photographic exhibits, challenging the stigma associated with difference and celebrating the richness of genetic variation.
43 E. 20th St., 6th Floor
New York, NY 10003
Phone: 212-420-1931
Web: www.positiveexposure.org

American Foundation for the Blind (AFB)

Provides information about programs and clinics for people with impaired vision throughout the United States
11 Penn Plaza, Suite 300
New York, NY 10001
Phone: 800-AFB-LIND
Web:www.afb.org

Albinism

Abdominal Perforation

Achondropllasia

Acne

Tuesday, April 29, 2014

School Baby Required calcium 1,3g/day

The school baby required calcium one of the following
1 0.1 g/day
2 1,3 g/day
3 10,5 g/day
4 15 g/day

Benefits of smooking

Who says smoking cigarettes is so bad ... well, aside from the World Health Organization, Food and Drug Administration, the Centers for Disease Control and Prevention, and every medical board and association on the face of the Earth?

But should smokers be fortunate enough to dodge all that cancer, heart disease, emphysema and the like, they will be uniquely protected — for reasons unexplained by science — against a handful of diseases and afflictions.

Call it a silver lining in their otherwise blackened lungs. Although long-term smoking is largely a ticket to early death, here are (gulp) five possible benefits from smoking. Breathe deep.

1. Smoking lowers risk of knee-replacement surgery

While smokers might go broke buying a pack of cigarettes, they can at least save money by avoiding knee-replacement surgery. Surprising results from a new study have revealed that men who smoke had less risk of undergoing total joint replacement surgery than those who never smoked.

The study, from the University of Adelaide in Australia, appears in the July issue of the journal Arthritis & Rheumatism. What could be the connection? Knee-replacement surgery was more common among joggers and the obese; smokers rarely jog, and they are less likely to bemorbidly obese.

After controlling for age, weight and exercise, the researchers were at a loss to explain the apparent, albeit slight protective effects of smoking for osteoporosis. It could be that the nicotine in tobacco helps prevent cartilage and joint deterioration.

2. Smoking lowers risk of Parkinson's disease

Numerous studies have identified the uncanny inverse relationship between smoking and Parkinson's disease. Long-term smokers are somehow protected against Parkinson's, and it's not because smokers die of other things earlier. [10 Easy Paths to Self-Destruction]

The most recent, well-conducted study was published in a March 2010 issue of the journal Neurology. Far from determining a cause for the protective effect, these researchers found that the number of years spent smoking, more so than the number of cigarettes smoked daily, mattered more for a stronger protective effect.

Harvard researchers were among the first to provide convincing evidence that smokers were less likely to develop Parkinson's. In a study published in Neurology in March 2007, these researchers found the protective effect wanes after smokers quit. And they concluded, in their special scientific way, that they didn't have a clue as to why.

3. Smoking lowers risk of obesity

Smoking — and, in particular, the nicotine in tobacco smoke — is an appetite suppressant. This has been known for centuries, dating back to indigenous cultures in America in the pre-Columbus era. Tobacco companies caught on by the 1920s and began targeting women with the lure that smoking would make them thinner.

A study published in the July 2011 issue of the journal Physiology & Behavior, in fact, is one of many stating that the inevitable weight gain upon quitting smoking is a major barrier in getting people to stop, second only to addiction.

The relationship between smoking and weight control is complex: Nicotine itself acts as both a stimulant and appetite suppressant; and the act of smoking triggers behavior modification that prompts smokers to snack less. Smoking also might make food less tasty for some smokers, further curbing appetite. As an appetite suppressant, nicotine appears to act on a part of the brain called the hypothalamus, at least in mice, as revealed in a study by Yale researchers published in the June 10, 2011, issue of the journal Science.

No respectable doctor would recommend smoking for weight control, given the toxic baggage accompanying cigarettes. This recent Yale study, however, does offer an inkling of hope for a safe diet drug to help obese people control their appetites.

4. Smoking lowers risk of death after some heart attacks

Compared with non-smokers, smokers who have had heart attacks seem to have lower mortality rates and more favorable responses to two kinds of therapy to remove plaque from their arteries: fibrinolytic therapy, which is basically medication; and angioplasty, which removes the plaque by inserting balloons or stents into the arteries.

There's a catch, though. The reason why smokers have heart attacks is that smoke scars the arteries, allowing fat and plaque to build up in the first place. So, one theory as to why smokers do better than non-smokers after such therapies is that they are younger, experiencing their first heart attack approximately 10 years before the non-smoker.

A study published in an August 2005 issue of the American Heart Journal, however, states that age alone is not enough to fully explain the survival differences and that "the smoker's paradox is alive and well." No alternative theories have been put forth since.

5. Smoking helps the heart drug clopidogrel work better

Clopidogrel is a drug used to inhibit blood clots for those patients suffering from coronary artery disease and other circulatory diseasesleading to strokes and heart attacks. Smoking seems to help clopidogrel do its job better.

A study by Korean researchers in the October 2010 issue of the journal Thrombosis Research builds upon work by Harvard researchers published in 2009 that demonstrates the benefit of smoking at least 10 cigarettes a day. It seems that something in cigarette smoke activates certain proteins called cytochromes, which convert clopidogrel into a more active state.

Again, no respectable doctor is encouraging patients to start smoking to get the most out of clopidogrel. But this and the other four "benefits" of smoking reveal how tobacco — perhaps not unlike other potentially toxic plants — might contain certain chemicals of real therapeutic value.

Christopher Wanjek is the author of the books "Bad Medicine" and "Food At Work." His column, Bad Medicine, appears regularly on

Smoking is Dangrous To Health

Everybody in the world always think smoking should be banned completely because of the harmful health but they do not realize the benefit we can get from it . In my opinion , smoking should be banned but not completely and i will give some support ideas about that First of all ,let me point out the positive side of the smoking . As everybody knows, smoking undoubtedly help people to relax .People usually smoke before an exam , during working or when they hanging out with their friend .Secondly, governments through out the world get a huge profit from levy taxes on cigarette . They can use the fund to build hospitals , schools , and other amenities. Moreover , cigarette is provided thousand of jobs for people around the world - especially for the poor countries like Vietnam , India or Nepal . Without cigarette , those people will be suffered for their lifes. However , a coin always has two side . And of course ,smoking also has the negative effect . The first and also the worst of smoking is going to effect human health . Thousand of researchs have been shown that smoking is the main reason to caused some cancers like lung or bronchitic .. .. And because of that , it is wasted governments the big amount of money for people who are treating in hospitals . In addition , second smoking is also concerned . Scientists have shown that second smoking will have a serious health problem if they spend a long period of time among the people who do smoke. In general , i think smoking should be banned in public places like bus stops or shopping mall because the health of other people . But , the above mention benefits of cigarette are deserved to concern . And another thing is we all adults- they have the right to do things that good for them , all we have to do is give them more informations about how bad smoking is and let them dicided whether smoke or not

Smoking

Monday, April 28, 2014

Diabetic Foot

Summary

Description

Foot complications are common in people with diabetes
They occur in people with type 1 and type 2 diabetes, but usually arise much later after diagnosis in patients with type 1 diabetes
Principal causative factors are peripheral neuropathy, vascular compromise, ulceration, and infection
These factors, often associated with trauma or foot deformity, lead to an increased risk of lower limb amputation
People with diabetes are 25 times more likely to lose a leg than people without the condition
In many cases, foot ulceration can be prevented with appropriate healthcare and patient education
All people with diabetes should have regular foot and footwear inspections
Patients should be stratified by their risk of foot ulceration so that appropriate measures can be taken for prevention and/or treatment

Synonyms

Immediate action

The following actions should be taken immediately in cases of limb- or life-threatening infections:

Carry out metabolic assessment
Optimize glycemic control
Initiate broad-spectrum antibiotics
Arrange for immediate surgical consultation

Urgent action

In cases of deep ulcers, with or without osteomyelitis:

Carry out metabolic assessment
Optimize glycemic control
Accurately describe and assess extent of lesion
Establish vascular status
Debride devitalized tissues
Treat infection

Key points

Foot problems are common in people with diabetes because of their increased risk of peripheral neuropathy, peripheral vascular disease, abnormal pressure on the foot, and impaired resistance to infection
These factors frequently combine and result in ulceration and infection, progression to gangrene, and subsequent lower limb amputation
Prevention of ulceration is extremely important and should involve regular foot inspection, identification of the foot at risk, rapid treatment of all foot problems, education of patients and healthcare professionals, and instruction concerning appropriate footwear
Ulceration is largely a preventable complication, however <50% of diabetic patients, even those considered at high risk, receive an annual foot examination

Background

Cardinal features

In diabetic patients, multiple factors may exist that increase the risk of ulceration
Diabetic peripheral neuropathy is one of the major problems predisposing to foot problems; up to 50% of type 2 diabetic patients have peripheral neuropathy
Neuropathy may affect sensory, motor, and/or autonomic nerves and can lead to deformity and an abnormal gait
This can cause development of calluses over pressure points on the foot
As the patient with neuropathy may not be aware of foot discomfort, they may continue to walk on an injured foot
Eventually, the skin may break down and this may result in a chronic ulcer
Another major complication is peripheral vascular disease: this may present with a classically painful ischemic ulcer following minor injury
Lower limb ischemia also slows the healing process
It is not uncommon for patients to have both peripheral neuropathy and vascular disease, and as a result any ulceration may not be painful
In cases of deep ulceration, osteomyelitis may occur, which may result in the wound failing to heal
Local infection can result in cellulitis, deep abscess formation, and gangrene. Systemic infection (sepsis) can also result

Charcot's joint

Charcot's joint is a rare but serious complication in diabetic patients that almost always occurs in those with existing neuropathy
Charcot's joint results in destruction and deformity of articulations in the foot which are often made worse by a defect in pain sensation due to peripheral neuropathy
The foot is likely to be injured and become deformed if the patient continues to walk on it, which may lead to ulceration and possibly amputation
Typical early signs of Charcot's joint include one foot or part of one foot being warmer than the other, swelling, and redness

Causes

Common causes

Foot problems in diabetic patients usually result from the interaction of a number of component causes:

Peripheral neuropathy: loss of sensation in the feet results in injuries going unnoticed, which can lead to foot ulceration
Foot deformity: this may result in the formation of calluses on weight-bearing areas
Trauma: often minimal, repetitive, and not perceived
Arterial insufficiency: poor blood flow to the feet slows the wound healing process and increases risk of infection
Impaired resistance to infection: increases the risk of severe infection leading to amputation

Rare causes

Charcot's joint is a rare but serious complication and is frequently associated with underlying neuropathy.

Contributory or predisposing factors

Poor vision, especially in older people, those with diabetic retinopathy, and those with other diabetes-related eye conditions, may result in falls and foot injury
Poor vision also contributes to difficulty managing toenails: deformed, overgrown nails will result in skin trauma
Comorbidities and hospitalization frequently results in reduced mobility, unsteadiness, and skin defects due to pressure or swelling
Poor general healing and reduced immune function may be directly related to chronic hyperglycemia: risk of ulceration or amputation is increased in people who have had diabetes for >10 years or who have poor glucose control
Risk is also increased in people with other diabetes-related complications including cardiovascular disease and renal complications
Depression is more common in people with chronic disease and may result in lack of self-care leading to skin infection or injury

Epidemiology

Incidence and prevalence

The American Diabetes Association (ADA) has reported that 15% of people with diabetes will experience a foot ulcer at some point in their lifetime, although recent research suggests this figure may be as high as 25%
The ADA also state that 14-24% of people with a foot ulcer will require an amputation
Approx. 15-20% of people with diabetes in the US will be hospitalized with a foot complication at some point during the course of their disease
In the US, almost 70% of all lower leg amputations are carried out on people with diabetes
People with diabetes are 25 times more likely to lose a leg than people without the condition

Incidence

In people diagnosed with diabetes:

The annual population-based incidence of foot ulceration is 1000-4100/100,000 (1.0-4.1%)
Lifetime incidence of foot ulceration may be as high as 25%

Prevalence

The prevalence of foot ulcers is 4000-10,000/100,000 (4-10%) in people diagnosed with diabetes.

Demographics

Age

Diabetic foot problems are unusual in patients <40 years of age. They increase with age >40 years, and occur most commonly in those aged 50 years and older. However, duration and control of diabetes are greater predictors of diabetic foot problems than chronological age.

Gender

Men with diabetes are at increased risk of foot ulcers or amputation compared with women with diabetes.

Geography

In developed countries, 1 in 6 people with diabetes will have a foot ulcer during their lifetime
In developing countries, foot problems are thought to be even more common

Socioeconomic status

People in lower socioeconomic groups tend to be at increased risk for diabetic foot disorders
They may find it more difficult to access preventive care and may have fewer resources to organize appropriate well-fitting footwear