Tag Archives: Nutrition and Metabolism Disorders

Rhodiola rosea

Botanical Name : Rhodiola rosea
Family: Crassulaceae
Genus: Rhodiola
Species: R. rosea
Kingdom: Plantae
Order: Saxifragales

Common Names :Golden Root, Roseroot, Aaron’s Rod

Habitat : Rhodiola rosea  is a plant that grows in cold regions of the world. These include much of the Arctic, the mountains of Central Asia, the Rocky Mountains, and mountainous parts of Europe, such as the Alps, Pyrenees, Carpathian Mountains, Scandinavia, Iceland, Great Britain and Ireland.

Description:
The perennial plant grows in areas up to 2280 meters elevation. Several shoots grow from the same thick root. Shoots reaches 5 to 35 cm in height. Rhodiola rosea is dioecious – having separate

 

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Medicinal Uses:
Chinese medical practitioners describe adaptogens as “superior” plants that profoundly benefit the human body without dangerous side effects. While the most famous adaptogen is ginseng, cutting-edge research by top Russian doctors and scientists has shown that Arctic Root can ease more conditions, including stress, depression, heart disease and cancer
.           Rhodiola rosea has been shown to shorten recovery time after prolonged workouts, to increase attention span, memory, strength, and anti-toxic action. Rhodiola rosea extract increases the level of enzymes, RNA, and proteins important to muscle recovery after exhaustive exercise.  It has also been shown to increase the levels of beta-endorphin in blood plasma which helps prevent the hormonal changes indicative of stress.  This effect has also been linked to maintaining an increased cardiac output and subsequently having a cardioprotective effect.  Studies using proofreading tests have demonstrated that Rhodiola rosea enhances memorization and concentration ability over prolonged periods.  Finally, Rhodiola has been shown to increase anti-tumor activity by increasing the body’s resistance to toxins.

In Siberia it is said that “those who drink rhodiola tea regularly will live more than 100 years.” Chinese emperors always looking for the secret to long life and immortality sent expeditions into Siberia to collect and bring back the plant. Being one of the most popular medicinal herbs of middle Asia, for many years Rhodiola was illegally trafficked across the Russian border to China  In Siberia it was taken regularly especially during the cold and wet winters to prevent sickness. In Mongolia it was used for the treatment of tuberculosis and cancer.      Formerly regarded as a scarce plant, researchers from Tomsk State University found significant stands of this valuable herb growing wild in Sibera at elevations of 5000 to 9000 feet above sea level.  Subsequent research has substantiated high live giving biological activity with no toxicity.    For the treatment of depression extracts of rhodiola, namely rosavin and salidroside, in animal studies seem to enhance the transport of serotonin precursors, tryptophan, and 5-hydroxytryptophan into the brain. Serotonin is a widely studied brain neurotransmitter chemical that is involved in many functions including, smooth muscle contraction, temperature regulation, appetite, pain perception, behavior, blood pressure and respiration.  When balanced, it imparts a a sense of contentment and mental ease. Either too much or too little serotonin on the other hand has been linked to various abnormal mental states such as clinical depression. Thus rhodiola has been used by Russian scientists alone or in combination with antidepressants to boost one’s mental state, a boon in countries and seasons where one is deprived of adequate sun over prolonged periods of months. This leads to a condition known as SAD or Seasonal Affective Disorder common to Northern European countries.
Rhodiola has also been shown to be effective for cardiac problems caused or aggravated by stress. Its action for these conditions is in its ability to decrease the amount of catecholamines and corticosteroids released by the adrenal glands during stress. The abnormal presence of these stress hormones will subsequently raise blood pressure, cholesterol, potassium levels and increase risk factors for heart disease. Rhodiola has been found to decrease harmful blood lipids and thus decrease the risk of heart disease. It also decreases the amount of cyclic-AMP (c-AMP) released into cardiac cells. Cyclic AMP is related to ATP (adenosine triphosphate), the body’s primary energy molecule. C-AMP acts as a ‘second messenger’ or liaison between the outer and inner environments of the cell. It assists in the uptake of more intracellular calcium into the heart thus promoting a greater potential for heart muscle contraction. Rhodiola thus regulates the heart beat and counteracts heart arrhythmias    As an adaptogen, rhodiola both stimulates and protects the immune system by reinstating homeostasis (metabolic balance) in the body. It also increases natural killer cell (NK) in the stomach and spleen. This action may be due to its ability to normalize hormones by modulating the release of glucocorticoid into the body.

Rhodiola has potent antioxidant properties. By limiting the adverse effects of free radical damage, it is able to combat all the diseases associated with aging. The presence of free radicals is associated with cell mutagenicity, the immediate cause of cancer. Again, Russian researchers have found that the oral administration of rhodiola inhibited tumor growth in rats 39 percent and decreased metastasis by 50 percent. It improved urinary tissue and immunity in patients suffering with bladder cancer. In other experiments with various types of cancer, including adenocarcinoma (cancer of glandular tissue such as breast cancer) and lung carcinoma, the use of extracts of rhodiola rosea resulted in significant increased survival rate                 Like Siberian ginseng, rhodiola is routinely used by athletes to improve performance. While the mechanism is not completely understood, rhodiola seems to improve the ratio of muscle-fat and increases hemoglobin and erythrocytes levels in the blood.

Many other benefits from the use of Rhodiola has been found including its ability to improve hearing, when applied to the gums to inhibit the progression of pyorrhea, to regulate blood sugar levels for diabetics and protect the liver from environmental toxin.

You may click to see :Rhodiola Rosea root extract supplement benefit, side effects and dosage

Disclaimer:
The information presented herein is intended for educational purposes only. Individual results may vary, and before using any supplements, it is always advisable to consult with your own health care provider.

Resources:

Rhodiola Rosea: Hypereffective Adaptogen


http://en.wikipedia.org/wiki/Rhodiola_rosea
http://www.herbnet.com/Herb%20Uses_RST.htm?Voucher2=Connect+to+Internet

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Pityriasis rosea

Definition:
Some people say Pityriasis rosea (also known as “Pityriasis rosea Gibert“) is a skin rash. It is non-dangerous but may inflict substantial discomfort on some sufferers.  Classically, it begins with a single “herald patch” lesion, followed in 1 or 2 weeks by a generalized body rash lasting about 6 weeks

Pityriasis rosea is common type of skin rash seen between the ages of ten and 35. It is a skin rash that often sweeps out from the middle of your body, with a shape that resembles drooping pine-tree branches. Pityriasis (pit-ih-RI-uh-sis) rosea usually begins as one large spot on your chest, abdomen or back and then spreads.

The cause isn’t known, but a viral infection is suspected (though it doesn’t seem to be contagious).The overall prevalence of  Pityriasis rosea in the United States has been estimated to be 0.13% in men and 0.14% in women.
You may click to see Pictures of Pityriasis rosea
Symptoms:
The symptoms of Pityriasis rosea include:

*An upper respiratory tract infection may precede all other symptoms in as many as 69% of patients

*A single, 2- to 10-cm oval red “herald” patch appears, classically on the abdomen.  Occasionally, the”herald” patch may occur in a ‘hidden’ position (in the armpit, for example) and not be noticed immediately. The “herald” patch may also appear as a cluster of smaller oval spots, and be mistaken for acne. Rarely, it does not become present at all.

*7-14 days after the herald patch, large patches of pink or red, flaky, oval-shaped rash appear on the torso. In 6% of cases an inverse distribution may occur, with rash mostly on the extremities. The more numerous oval patches generally spread widely across the chest first, following the rib-line in a characteristic “christmas-tree” distribution.  Small, circular patches may appear on the back and neck several days later. It is unusual for lesions to form on the face, but they may appear on the cheeks or at the hairline.

*About one-in-four people with PR suffer from mild to severe symptomatic itching. (Moderate itching due to skin over-dryness is much more common, especially if soap is used to cleanse the affected areas.) The itching is often non-specific, and worsens if scratched. This tends to fade as the rash develops and does not usually last through the entire course of the disease.

*The rash may be accompanied by low-grade fever, headache, nausea and fatigue. Over-the-counter medications can help manage these

Causes:
The cause of pityriasis rosea is not certain, but its clinical presentation and immunologic reactions suggest a viral infection as a cause.  Also, HHV-7 is frequently found in healthy individuals, so its etiologic role is controversial.

It is not contagious,  though there have been reports of small epidemics in fraternity houses and military bases, schools and gyms.

Complications:
Complications of pityriasis rosea aren’t likely, but if they do occur, they may include:

*Severe itching
*Lasting brown spots after the rash has healed, on dark skin

Diagnosis:
Identification of pityriasis rosea can be challenging for a number of reasons. The diagnosis is unclear at the onset of symptoms, and there are no noninvasive tests that confirm the condition. In at least one half of patients, the first symptoms of pityriasis rosea are nonspecific and consistent with a viral upper respiratory infection.1,5 A herald patch then appears, typically on the trunk. This large lesion is commonly 2 to 10 cm in diameter, ovoid, erythematous, and slightly raised, with a typical collarette of scale at the margin.....PIC-1 . At this stage, however, the diagnosis usually remains unclear. Microscopic examination of potassium hydroxide preparations shows no fungal elements. The lesion cannot be differentiated from eczema and often is treated as such.

A few days to a few weeks after the appear ance of the herald patch, crops of smaller lesions, 5 to 10 mm in diameter, develop across the trunk and, less commonly, on the extremities. These lesions are salmon colored, ovoid, raised, and have the same collarette of scale as the herald patch.…PIC-2... . At this stage, the diagnosis usually is clear, particularly if the physician can observe or elicit a history of the herald patch.
If the diagnosis is uncertain, especially if the palms and soles are affected and the patient is sexually active, the physician should consider the possibility of secondary syphilis. Appropriate evaluation includes direct fluorescent antibody testing of lesion exudates, a VDRL test, or dark-field microscopy.11 Other conditions in the differential diagnosis include diffuse nummular eczema, tinea corporis, pityriasis lichenoides, guttate psoriasis, viral exanthem, lichen planus, and medication reaction.

The smaller secondary lesions of pityriasis rosea follow Langer’s lines ..PIC-3.. When the lesions occur on the back, they align in a typical “Christmas tree” or “fir tree” pattern. Elsewhere on the body, the lesions follow the cleavage lines as follows: transversely across the lower abdomen and back, circumferentially around the shoulders, and in a V-shaped pattern on the upper chest12...PIC-4. Pruritus is variable. Except for mild to severe itching in 25 percent of patients, no systemic symptoms typically are present during the rash phase of pityriasis rosea.

Biopsy usually is not indicated in the evaluation of patients with suspected pityriasis rosea. Histology has shown that in addition to non-specific subacute and chronic inflammation, 55 percent of specimens contain epidermal cells that display dyskeratotic degeneration.14

Worsening of the rash or a second wave of lesions is not uncommon before eventual spontaneous resolution of the eruption. Recurrence of the condition later in life is rare.

Although no causal link has been established, multiple drugs have been associated with an extensive and often prolonged form of pityriasis rosea . A review of the literature shows that single case reports account for most of the drug associations.

Treatment:
No treatment is usually required.

Oral antihistamines or topical steroids may be used to decrease itching.[5] Steroids do provide relief from itching, and improve the appearance of the rash, but they also cause the new skin that forms (after the rash subsides) to take longer to match the surrounding skin color. While no scarring has been found to be associated with the rash, itching and scratching should be avoided. Irritants such as soap should be avoided, too; a soap containing moisturizers (such as goat’s milk) may be used, however, any generic moisturizer can help to manage over-dryness.

Direct sunlight makes the lesions resolve more quickly. According to this principle, medical treatment with ultraviolet light has been used to hasten resolution, though studies disagree whether it decreases itching or not. UV therapy is most beneficial in the first week of the eruption

Prognosis:
In most patients, the condition lasts only a matter of weeks; in some cases it can last longer (up to six months). The disease resolves completely without long-term effects. Two percent of patients have recurrence.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/pityriasisrosea.shtml
http://www.nlm.nih.gov/medlineplus/ency/article/000871.htm
http://www.mayoclinic.com/health/pityriasis-rosea/DS00720
http://www.aafp.org/afp/2004/0101/p87.html
http://en.wikipedia.org/wiki/Pityriasis_rosea

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Paget’s Disease of Bone

Definition:
Paget’s disease of bone causes affected bones to become enlarged and misshapen. Our bones are living tissue, and our bodies are constantly breaking down old bone and replacing it with new bone. In Paget’s disease, however, old bone is broken down and replaced at a faster rate than normal. The new bone is larger and weaker than normal bone.

Click to see the picture


Click to see the picture

Paget’s disease can occur in any bone in the body, but it is most common in the pelvis, spine, skull, and leg bones. It may occur in just one bone or in several bones, but it does not affect the entire skeleton or spread from affected bones to normal bones. Common symptoms include pain, misshapen bones, and a greater chance of broken bones.

Decisions about treating Paget’s disease can be complicated because: 1) no two people are affected in exactly the same way by the disease, and 2) it is sometimes difficult to predict whether a person with Paget’s disease who shows no signs of the disorder will develop symptoms or complications, such as a bone fracture, at a later date. Although there is no cure for Paget’s disease, medications (bisphosphonates and calcitonin) can help control the disorder and lessen pain and other symptoms. Paget’s disease experts recommend that these medications be taken by people with Paget’s disease who: have bone pain, headache, back pain, or a nerve-related symptom (such as “shooting” pains in the leg) that is directly associated with the disease; have elevated levels of serum alkaline phosphatase (SAP) in their blood; display evidence that a bone fracture will occur; require pretreatment therapy for affected bones that require surgery; have active symptoms in the skull, long bones, or vertebrae (spine); have the disease in bones located next to major joints, placing them at risk of developing osteoarthritis; develop a rare condition called hypercalcemia that occurs when a person with several bones affected by Paget’s disease and a high SAP level is immobilized.

Today’s medications, especially when started before complications begin, are often successful in controlling the disorder. Paget’s disease is rarely diagnosed in people less than 40 years of age. Women are more commonly affected than men. Prevalence of Paget’s disease ranges from 1.5 to 8.0 percent, depending on age and country of residence. Prevalence of familial Paget’s disease (where more than one family member has the disease) ranges from 10 to 40 percent in different parts of the world.[citation needed] Because early diagnosis and treatment is important, after age 40, siblings and children of someone with Paget’s disease may wish to have an alkaline phosphatase blood test every two or three years. If the alkaline phosphatase level is above normal, other tests such as a bone-specific alkaline phosphatase test, bone scan, or X-ray can be performed.

Named for Sir James Paget (1814–1899)

Symptoms:
Most people who have Paget’s disease of bone experience no symptoms. When symptoms do occur, the most common complaint is bone pain. The disease may affect only one or two areas of your body, or may be widespread. Your signs and symptoms, if any, will depend on the part of your body that’s affected, including:

*Pelvis. Paget’s disease of bone in the pelvis can cause hip pain.

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*Skull. An overgrowth of bone in the skull can cause hearing loss or headaches.

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*Spine. If your spine is affected, nerve roots can become compressed. This can cause pain, tingling and numbness in an arm or leg.

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*Leg. As the bones weaken, they may bend — causing you to become bow-legged. Enlarged and misshapen bones in your legs can put extra stress on nearby joints, which may cause wear-and-tear arthritis in your knee or hip.

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 Click to see the pictures

Other common  Symptoms are:

•Bone and joint pain.
•Deformity of a bone such as bowing of the leg, skull enlargement or curvature of the spine.
•Muscle weakness due to bones pressing on nerves.
•Bone fractures resulting from minor injury (bone affected by Paget’s disease has a disorganised structure and is mechanically weak).
•Arthritis (when Paget’s affects bone around a joint).
•Deafness, vision disturbance, dizziness and tinnitus when enlargement of skull bones puts pressure on vital nerves.
•A “hot spot” over an area of affected bone due to high blood supply.
Causes:
Even after you’ve reached your full height, your bones don’t stop growing. Bone is living tissue engaged in a continual process of renewal. During this constant process called remodeling, old bone is removed and replaced by new bone. Paget’s disease of bone disrupts this process.

Early in the course of the disease, old bone starts breaking down faster than new bone can be built. Over time, your body responds by generating new bone at a faster than normal rate. This rapid remodeling produces bone that’s softer and weaker than normal bone, which can lead to bone pain, deformities and fractures.

Scientists haven’t identified a cause of Paget’s disease of bone, though they have discovered several genes that appear to be linked to the disorder.

Some scientists believe Paget’s is related to a viral infection in your bone cells that may be present for many years before problems appear. Hereditary factors seem to influence whether you’re susceptible to the disease.
Risk Factors:
*Age. People older than 40 are the most likely to develop Paget’s disease of bone.

*Sex. Men are more commonly affected than are women.

*National origin. Paget’s disease of bone is more common in people of Anglo-Saxon descent.

*Family history. If you have a close relative who has Paget’s disease of bone, you are much more likely to develop the condition yourself.

Complications:
In most cases, Paget’s disease of bone progresses slowly. The disease can be managed effectively in nearly all people. Possible complications include:

*Fractures. Bones affected by Paget’s disease are large and dense, but also weak and brittle. This makes them more prone to fractures. More blood vessels are created in these deformed bones, so they bleed more during repair surgeries.

*Osteoarthritis. Misshapen bones can increase the amount of stress on nearby joints, which can cause osteoarthritis.

*Heart failure. Unusually extensive Paget’s disease may force your heart to work harder to pump blood to the affected areas of your body. In people with pre-existing heart disease, this increased workload can lead to heart failure.Bone cancer. Bone cancer occurs in less than 1 percent of people with Paget’s disease.
Diagnosis:
DiagnosisPaget’s disease may be diagnosed using one or more of the following tests:

*Pagetic bone has a characteristic appearance on X-rays. A skeletal survey is therefore indicated.

*An elevated level of alkaline phosphatase in the blood in combination with normal calcium, phosphate, and aminotransferase levels in an elderly patient are suggestive of Paget’s disease.

*Bone scans are useful in determining the extent and activity of the condition. If a bone scan suggests Paget’s disease, the affected bone(s) should be X-rayed to confirm the diagnosis.
Associated medical conditions:
Paget’s disease may lead to other medical conditions, including:

*Arthritis may be caused by bowing of long bones in the leg, distorting alignment and increasing pressure on nearby joints. In addition, pagetic bone may enlarge, causing joint surfaces to undergo excessive wear. In these cases, pain may be due to a combination of Paget’s disease and osteoarthritis.

*Loss of hearing in one or both ears may occur when Paget’s disease affects the skull and the bone that surrounds the inner ear. Treating the Paget’s disease may slow or stop hearing loss. Hearing aids may also help.

*Cardiovascular disease can result from severe Paget’s disease (i.e. with more than 15% skeletal involvement). Arteriovenous connections can often form in the bone, and so the heart has to work harder (pump more blood) to ensure adequate oxygen supply to the tissues. This increase in cardiac output can lead to calcification of the aortic valve, and the resulting aortic stenosis causes left ventricular hypertrophy and eventually high-output congestive failure.

*Kidney stones are somewhat more common in patients with Paget’s disease.

*Pagetic bone can cause nervous system problems, such as pressure on the brain, spinal cord, or nerves, and reduced blood flow to the brain and spinal cord.

*Rarely, Paget’s disease is associated with the development of osteosarcoma (malignant tumor of bone).
*When there is a sudden onset or worsening of pain, sarcoma should be considered.

*When Paget’s disease affects the facial bones, the teeth may become loose. Disturbance in chewing may occur.

*Rarely, when the skull is involved, the nerves to the eye may be affected, causing some loss of vision.

*Angioid streaks may develop, possibly as a result of calcification of collagen or other pathological deposition.

Paget’s disease is not associated with osteoporosis. Although Paget’s disease and osteoporosis can occur in the same patient, they are different disorders. Despite their marked differences, several treatments for Paget’s disease are also used to treat osteoporosis.

Treatment:
Endocrinologists (internists who specialize in hormonal and metabolic disorders), rheumatologists (internists who specialize in joint and muscle disorders), orthopedic surgeons, neurologists, and otolaryngologists are generally knowledgeable about treating Paget’s disease, and may be called upon to evaluate specialized symptoms.

Drug therapy
The goal of treatment is to relieve bone pain and prevent the progression of the disease. The U.S. Food and Drug Administration has approved the following treatments for Paget’s disease:

Bisphosphonates
Five bisphosphonates are currently available. In general, the most commonly prescribed are: risedronic acid (Actonel), alendronic acid (Fosamax) and pamidronic acid (Aredia). Etidronic acid (Didronel) and other bisphosphonates may be appropriate therapies for selected patients, but are less commonly used. As a rule, bisphosphonate tablets should be taken with 200-250 mL (6–8 oz) of tap water (not from a source with high mineral content) on an empty stomach. None of these drugs should be used by people with severe kidney disease.

*Etidronate disodium (Didronel) in tablet form is available in 200–400 mg doses. The approved regimen is once daily for six months; the higher dose (400 mg) is more commonly used. No food, beverage, or medications should be consumed for two hours before and after taking. The course should not exceed six months, but repeat courses can be given after rest periods, preferably of three to six months duration.

*Pamidronate disodium (Aredia) in intravenous form: the approved regimen uses a 30 mg infusion over four hours on each of three consecutive days, but a more commonly used regimen is 60 mg over two to four hours for two or more consecutive or nonconsecutive days.

*Alendronate sodium (Fosamax) is given as tablets of 40 mg once daily for six months; patients should wait at least 30 minutes after taking before eating any food, drinking anything other than tap water, taking any medication, or lying down (patient may sit).

*Tiludronate disodium (Skelid) in two tablets of 200 mg are taken once daily for three months; they may be taken any time of day, as long as there is a period of two hours before and after resuming food, beverages, and medications.

*Risedronate sodium (Actonel) as a 30 mg tablet taken once daily for 2 months is the prescribed regimen; patients should wait at least 30 minutes after taking before eating any food, drinking anything other than tap water, taking any medication, or lying down (patient may sit).

*Zoledronic acid (Reclast, Aclasta) is given as an intravenous infusion; a single dose (5 mg over 15 minutes) is effective for two years.

Calcitonin
*Miacalcin is administered by injection; 50 to 100 units daily or three times per week for 6–18 months. Repeat courses can be given after brief rest periods. Miacalcin may be appropriate for certain patients, but is seldom used. The nasal spray form of this drug is not approved for the treatment of Paget’s disease.

Diet and regular exercise:
In general, patients with Paget’s disease should receive 1000–1500 mg of calcium, adequate sunshine, and at least 400 units of vitamin D daily. This is especially important in patients being treated with bisphosphonates; however, taking oral bisphosphonates should be separated from taking calcium by at least two hours, because the calcium can inhibit the absorption of the bisphosphonate. Patients with a history of kidney stones should discuss calcium and vitamin D intake with their physicians.

Exercise is  most important in maintaining skeletal health, avoiding weight gain, and maintaining joint mobility. Since undue stress on affected bones should be avoided, patients should discuss any exercise program with their physicians before beginning.
Prognosis:
The outlook is generally good, particularly if treatment is given before major changes in the affected bones have occurred. Any bone or bones can be affected, but Paget’s disease occurs most frequently in the spine, skull, pelvis, femur, and lower legs. In general, symptoms progress slowly, and the disease does not spread to normal bones. Treatment can control Paget’s disease and lessen symptoms, but is not a cure. Osteogenic sarcoma, a form of bone cancer, is an extremely rare complication that occurs in less than one percent of all patients.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Paget’s_disease_of_bone
http://www.bbc.co.uk/health/physical_health/conditions/pagets1.shtml
http://www.endotext.org/parathyroid/parathyroid15/parathyroid15.html
http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485
http://www.surgeongeneral.gov/library/bonehealth/chapter_3.html
http://www.sciencephoto.com/media/260576/enlarge

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Mucopolysaccharide Diseases

Definition:
Mucopolysaccharide diseases (MPS), also known as lysosomal storage diseases, are rare, life-threatening, progressive metabolic conditions each caused by a shortage of a particular enzyme.

The enzyme deficiency that results from mucopolysaccharide diseases means the body can’t break down (metabolise) certain molecules called GAGs (glycosaminoglycans).

click & see the pictures
GAGs are structural molecules that are integral to connective tissues such as cartilage. They accumulate in cells within tiny structures called lysosomes. This leads to dysfunction the cells, resulting in dysfunction of tissues and organs.

There are many different types of MPS including: Hurler; Hunter; Sanfillipo; Morquio; Maroteaus-Lamy and Sly.

Seven distinct clinical types and numerous subtypes of the mucopolysaccharidoses have been identified. Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. (Note: MPS-V and MPS-VIII are no longer in use as designations for any disease.)

Symptoms
Patients with MPS appear normal at birth and usually present with developmental delay in the first year of life. The different types have slight variation in symptoms, which include problems with their eyes, skin, heart, bones and mental retardation.

Hurler syndrome (MPS 1) typifies MPS. It is the most severe form, progresses quickly and normally results in death by the age of 10. The clinical features of Hurler syndrome are:

•Coarse faces, large tongues, male-pattern hairiness and corneal clouding
•Airway problems and glue ear
•Skeletal deformities
•Cardiomyopathy (a problem with the heart muscle)
•Large liver and spleen
•Hernias
•Stiff joins
•Hearing loss
•Developmental delay and retardation

Causes:
MPS is an inherited disease. The majority of types are inherited by autosomal recessive transmission. That means that if both of your parents are carriers, you have a one if four chance of having the disease.

Diagnosis:
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.

Treatment:
Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person’s quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.

Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive mucus.

Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Sleep studies can assess airway status and the possible need for nighttime oxygen. Some patients may require surgical insertion of an endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among patients with significant corneal clouding.

Enzyme replacement therapy (ERT) are currently in use or are being tested. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain. Currently BioMarin Pharmaceutical produces enzyme replacement therapies for MPS type I and VI. In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II (Hunter syndrome).

Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling.

Genetics:
It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. It is an autosomal recessive disorder, meaning that only individuals inheriting the defective gene from both parents are affected. (The exception is MPS II, or Hunter syndrome, in which the mother alone passes along the defective gene to a son.) When both people in a couple have the defective gene, each pregnancy carries with it a one in four chance that the child will be affected. The parents and siblings of an affected child may have no sign of the disorder. Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Mucopolysaccharidosis

MPS III – Sanfilippo Disease


http://www.bbc.co.uk/health/physical_health/conditions/mucopolysaccharide2.shtml#what_are_mucopolysaccharide_diseases_mps_

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Hypercalcaemia

Definition:-

Calcium is a mineral that’s vital for the development of healthy bones and teeth – 99 per cent of the calcium in our bodies is found here. It’s also needed for muscle contraction, regulation of the heartbeat and formation of blood clots. A long-term shortage of calcium can lead to osteoporosis (brittle-bone disease).

The four pea-sized parathyroid glands (found at the front of the neck) are responsible for regulating the body’s calcium levels. These small glands, which are embedded in the tissue of the thyroid gland in the neck, detect fluctuations in the level of calcium in the blood.

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There are times when this delicate balance is upset and too much calcium enters the blood. If levels rise too much, the glands decrease the secretion of the parathyroid hormone (PTH) and calcium levels return to normal again.
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Hypercalcaemia  is an elevated calcium level in the blood. (Normal range: 9–10.5 mg/dL or 2.2–2.6 mmol/L). It can be an asymptomatic laboratory finding, but because an elevated calcium level is often indicative of other diseases, a diagnosis should be undertaken if it persists. It can be due to excessive skeletal calcium release, increased intestinal calcium absorption, or decreased renal calcium excretion.

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Symptoms:
There is a general mnemonic for remembering the effects of hypercalcaemia: “groans (constipation), moans (psychic moans (e.g., fatigue, lethargy, depression)), bones (bone pain, especially if PTH is elevated), stones (kidney stones), and psychiatric overtones (including depression and confusion).”

Other symptoms can include fatigue, anorexia, nausea,abdominal pain, weightloss,loss of appetite, vomiting,constipation, pancreatitis and increased urination.

Abnormal heart rhythms can result, and ECG findings of a short QT interval and a widened T wave suggest hypercalcaemia. Significant hypercalcaemia can cause ECG changes mimicking an acute myocardial infarction.

Peptic ulcers may also occur.

Symptoms are more common at high calcium blood values (12.0 mg/dL or 3 mmol/l). Severe hypercalcaemia (above 15–16 mg/dL or 3.75–4 mmol/l) is considered a medical emergency: at these levels, coma and cardiac arrest can result.

Causes:-
One of the commonest causes of hypercalcaemia is cancer. Up to 20% of people with cancer have high calcium levels, especially with cancers of the breast, lung, head and neck, and certain blood cancers.

Abnormal parathyroid gland function:
*primary hyperparathyroidism
*solitary parathyroid adenoma
*primary parathyroid hyperplasia
*parathyroid carcinoma
*multiple endocrine neoplasia (MEN)
*familial isolated hyperparathyroidism
*lithium use
*familial hypocalciuric hypercalcaemia/familial benign hypercalcaemia

Malignancy:
*solid tumour with metastasis (e.g. breast cancer or classically squamous cell carcinoma, which can be PTHrP-mediated)
*solid tumour with humoral mediation of hypercalcaemia (e.g. lung cancer [in turn, most commonly of the small cell lung cancer type] or kidney cancer, pheochromocytoma)
*haematologic malignancy (multiple myeloma, lymphoma, leukaemia)

Vitamin-D metabolic disordershyper:
*vitaminosis D (vitamin D intoxication)
*elevated 1,25(OH)2D (see calcitriol under Vitamin D) levels (e.g. sarcoidosis and other granulomatous diseases)
*idiopathic hypercalcaemia of infancy
*rebound hypercalcaemia after rhabdomyolysis

Disorders related to high bone-turnover rateshyperthyroidism:
*prolonged immobilization
*thiazide use
*vitamin A intoxication
*Paget’s disease of the bone
*multiple myeloma

Renal failure
*severe secondary hyperparathyroidism:
*aluminium intoxication
*milk-alkali syndrome

Risk Factors:
An overproduction of PTH may also responsible for hypercalcaemia; this is often caused by a tumour in one or more of the parathyroid glands. Excess production of PTH may occur to compensate for a malfunction in one of the body’s other calcium-balancing mechanisms; for example, when the kidneys aren’t working properly or when there’s a deficiency of vitamin D.

Women over the age of 50 are most likely to have hypercalcemia, usually due to primary hyperparathyroidism.

Diagnosis:
Hypercalcaemia is diagnosed by laboratory tests including: serum calcium, albumin, phosphate, alkaline phosphate, BUN, creatinine, electrolytes and PTH level. These investigations assist in diagnosing the cause of hypercalcaemia and give a baseline indication of renal function. Urinary calcium should be measured as hypercalciuria may be detected. Other investigations may include an ECG and radiology examinations such as x-ray or bone scans which may show bone metastases

Treatment:
The treatment of hypercalcaemia is determined by the underlying disease, the degree of the hypercalcaemia and the patient’s clinical presentation. The aim of treatment is directed at decreasing serum calcium levels by increasing urinary excretion of calcium and decreasing bone resorption of calcium. Immobilization should be avoided as inactivity will cause an increase in bone resorption of calcium. The level of activity will be appropriate for the patient’s physical condition and other measures such as pain control may need to be considered prior to undertaking any physical activities. A review of the patient’s medications will need to be considered. Drugs that inhibit urinary calcium excretion, such as thiazide diuretics, should be ceased. NSAID and H2-receptor drugs, such as Ranitidine which decrease renal blood flow, should also be avoided if possible. Any calcium, Vitamin A and D supplements should also be ceased. Dietary restrictions of calcium have not been proven to be of any benefit to patients that are hypercalcaemic, or at risk of hypercalcaemia. Currently there is no data to suggest that hypercalcaemia has been attributed to food. However, some dietary supplements can cause abnormally hight levels of calcium in the blood. Patients with chronic renal failure are at risk of becoming hypercalacemic due to calcium intake.

This is due to decreased urine production, in combination with high calcium intake). Intravenous fluids (0.9% sodium chloride) will be administered to rehydrate the patient, the volume of fluid given will depend on the extent of the patients dehydration and cardiovascular and renal functions. At least 4-6 litres of saline on day 1, and 3-4 litres for several days thereafter is usual. Diuretics such as frusemide may also be given. Repeat blood tests should be taken several hours after treatment and reassessed. Cardiac status and urinary output should also be assessed, thus a strict fluid balance chart should be maintained on the patient. Oral phosphates, which inhibit bone resorption, may be administered. Diarrhoea is a common side effect and may lead to non-compliance. Bisphosphonates, which are given intravenously, inhibit osteoclast activity that contributes to bone resorption may also be administered. The two most common drugs used are Pamidronate/Aredia (60-90mg IV over 2 hours) and Zoledronic Acid/Zometa (4mg IV over 15 minutes). Both of these agents are generally well tolerated with limited side effects such as mild fever and irritation at the infusion site.

Prognosis:
The prognosis of hypercalcaemia depends upon the cause of increased calcium levels. When the underlying cause is treatable and the treatment is initiated promptly, hypercalcaemia can have a good prognosis. However, when associated with malignancy that has progressed into development of hypercalcemia, prognosis is poor. Hypercalcaemia is potentially fatal. Early diagnosis is important, as the cause of high blood calcium is usually identified and treated to avoid long-term complications. Signs and symptoms may be confused with those of end stage disease in terminal patients. In some patients, symptoms may be non-specific and have a slow onset.Some examples of these are:
•Anorexia
•Weakness
•Nausea
•Vomiting
•Constipation

In other cases, symptoms such as dehydration, renal failure and coma may develop very quickly resulting from very rapidly rising calcium levels. This may result in a life threatening situation. Symptoms do not always correlate with serum calcium levels. These must be closely compared with an in-depth patient history, examination and laboratory report. Signs and symptoms of hypercalcaemia can be numerous and nonspecific. They depend on the underlying cause and how quickly the calcium level rises. Mild hypercalcaemia may be asymptomatic but as the calcium levels rise, the symptoms begin to appear in all body systems. Some non-specific findings associated with hypercalcaemia include: decreased heart rate, hypertension, proximal muscle weakness (chronic hypercalcaemia), bony tenderness, increased tendon reflexes, unwanted tongue movements, dehydration and even coma.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/hypercalcaemia1.shtml
http://en.wikipedia.org/wiki/Hypercalcaemia
http://www.virtualmedicalcentre.com/symptoms.asp?sid=31&title=Hypercalcaemia#C3

http://erc.endocrinology-journals.org/content/12/3/549.full

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