Vitamin B12 Health Benefits

Vitamin b12 consists of a group of chemically related compounds, known as Vitamers, which are extremely beneficial for health. Take a quick glance at some of the major health benefits of B12 Vitamin.

Picture 1 - Vitamin B12-rich foods

Provides Energy

It provides the body with high amounts of energy. It converts carbohydrates into glucose in the body, resulting in energy production. Thus, it reduces fatigue and lethargy in the body.

Boosts Digestive System

It is also good for the human digestive system. Consumption of foods rich in this vitamin, such as salmon, tuna fish, as well as fish egg, boosts and maintains a good digestive system.

Prevents Heart Disorders

This vitamin also protects the body against heart disease by maintaining healthy cholesterol levels. Those having heart problems should definitely add foods rich in this vitamin into their diet to get rid of cardiac problems.

Checks High Blood Pressure

Consumption of foods containing this vitamin, like shellfish, lobster, beef and lamb, helps regulate blood pressure. Those suffering from blood pressure problems should have more of these foods on a regular basis.

Cures Depression

Young boys and girls often suffer from depression due to various reasons. Having Vitamin B12-rich foods on a regular basis is by far the best natural treatment for depression.

Aids in Skin Care

A deficiency of B12 Vitamin is often the only reason behind skin problems in women. Having foods containing this vitamin can help in cell production as well as in constant renewal of the skin. It can also improve the quality of skin and prevent it from getting affected by UV rays.

Promotes Hair growth

A common medical condition, hair loss can be prevented by this vitamin. B12 Vitamin plays a major role in hair growth. An intake of this vitamin increases the re-growth of cells of this hair. It stimulates the growth of hair and quite fast. Consuming foods rich in this nutrient can boost your hair follicles and promote your hair growth.

Works as an Anti-cancer agent

This vitamin also works as an anti-cancer agent. Its regular intake can reduce the risk of cancers of the breast, lung and prostate.

Controls Homocysteine Levels

When taken in proper amounts, this nutrient can be effective in controlling the homocysteine levels in the blood plasma cells. Deficiency of the B12 vitamin can result in hematological conditions.

Promotes Folic acid absorption

It also promotes absorption of Folic acid. Without this fat soluble vitamin, the body finds it unable to regenerate Folic acid. Both Folic acid and B12 vitamin are dependent on each other.

Boosts Pregnancy

Intake of foods rich in B12 vitamin promotes healthy pregnancy. Pregnant women require more of this vitamin, as compared to normal adults. This helps them have a healthy baby with a healthy nervous system. A deficiency of B12 vitamin can result in birth defects and even cause miscarriage.

Improves mental health

This is a vital nutrient and is essential for everyone. Adequate amounts of this vitamin can prevent decline in mental capabilities. Dementia, as well as short term memory loss, can also be prevented.

Weight Loss

Vitamin B12, also termed as Energy Vitamin, speeds up the metabolic process by helping burn more calories. This results in sudden weight loss along with increase in the energy level.

Sleep well

Proper dosage of this nutrient can also help one sleep better. It enhances the production of Melatonin that supports healthy sleep patterns. Those who are unable to sleep properly must consume supplements of this vitamin.

Red Blood Cells

Daily intake of this nutrient is responsible for creation of red blood cells in our body. People with low energy level often take B12 injections for instant boost of energy. In such cases, however, a consultation with doctor is necessary.

Canker sore

This vitamin also works as an effective remedy for canker sores.

Eczema

It is also effective in treating Eczema, an inflammatory skin condition characterized by rashes and itching. The nutrient inhibits production of inflammatory cytokines and trap nitric acid, leading to less harmful consequences for the body.

Insomnia

Insomnia is a serious health condition characterized by trouble in sleeping. Chronic insomnia can be treated by this vitamin.

Jaundice

Deficiency of this vitamin can result in jaundice. Proper amounts of this substance can lower the risk of the disease.

Leukemia

Consuming foods rich in B12 vitamin can lower the risk of Leukemia. Deficiency in micro-nutrients like folic acid is the main reason behind the growth of Leukemia.

Menopause

B12 supplement regulates the sleep wake cycle and results in improvement of menopause. Women suffering from menopausal problems should immediately start consuming B12-rich foods.

Joint and neck pain

Those suffering from neck pain can switch to B12 supplements. Daily intake helps reduce pain to a great extent. Supplements of this vitamin are also effective for treating arthritis problems without causing any side effects.

Parkinson

Parkinson’s Disease is a degenerative disorder affecting the central nervous system. B12 vitamin, along with Folic acid, protects the integrity of nerve cells and myelin sheath that surrounds nerve cells. B12 supplements can reduce the risk of getting affected by Parkinson’s Disease.

Vitamin B12 Side Effects

While it is generally beneficial, an over-consumption of this vitamin can lead to severe side effects. Know about some of the common side effects that most individuals suffer from due to high intake of B12.

Picture 2 - Vitamin B12 Image

Affects pregnancy and breast feeding

B12 is safe for pregnant women but over consumption is not good for their health. The recommended amount for pregnant women is 2.6 mcg per day. Having more than this amount can lead to health issues.

High amount of red blood ell

Over consumption of the substance increases the growth of red blood cells in the body. Large amount of B12 intake can unmask the symptoms of polycythemia Vera.

Abnormal red blood cells

Intake of high proportion of b12 supplement can lead to megaloblastic anemia. Hence, it is better not to have an excess of this vitamin.

Eye diseases

Some individuals even suffer from eye disorders due to intake of excess of b12 rich foods. Those having eye problems should avoid taking foods rich in b12. The vitamin can seriously harm the optic nerve and even result in blindness.

Allergies

People suffering from allergies due to this vitamin are requested not to have foods rich in the nutrient. Even if they are forced to have such foods, they should try to have them in less proportion to avoid health problems.

Cardiovascular problems

Over consumption can lead to cardiovascular side effects that include heart failure, pulmonary edema, and thromboisis.

Dermatological issues

Dermatologic side effects include itching and transitory exanthema.

Gastrointestinal problems

Gastrointestinal side effects include glossitis and nausea.

Hypersensitivity

Overconsumption of B12 supplements may lead to symptoms of Hypersensitivity, such as Paresthesia and severe headache.

Although having foods rich in Vitamin B12 is good for health, an over-consumption of the nutrient is not good. You must know the right dosage so that you can avoid any side effects arising from an over-consumption of this vitamin. It is better to consult your doctor and take his/her advice before consuming this vitamin or using its supplements.

References:

http://www.nlm.nih.gov/medlineplus/ency/article/002403.htm

http://www.mayoclinic.com/health/vitamin-b12/ns_patient-vitaminb12

http://www.webmd.com/diet/vitamin-b12-15239

http://www.medicalnewstoday.com/articles/172774.php

What is Skeletal Dysplasia?

The term refers to a group of disorders characterized by interruption in the growth and development of bones and cartilages. The most common form of the disease is dwarfism, which refers to short height in adults. The condition itself is often commonly known as dwarfism.

The disease is characterized by shortness of stature in comparison to normal standards.

Types of Skeletal Dysplasia

More than 200 different forms of this disorder have been discovered till today. It is not easy to categorize and name its different forms. In order to categorize the different forms properly, these are grouped according to the genetic mutation of protein defect associated with the condition. The groups are:

Picture 1 - Skeletal Dysplasia

Achondroplasia group

These are dysplasia occurring as a result of mutations in the fibroblast growth factor 3 gene (FGFR3).

Diastrophic dysplasia group

It is caused by mutations in the diatrophic dysplasia sulfate transporter gene (DTDST).

Type II Collagenopathy

It occurs as a result of mutations in the procollagen II gene (COL2A1).

Type XI Collagenopathy

It occurs as a result of mutations in the procollagen XI genes.

Metaphyseal dysplasia

It is a complicated dysplasia resulting from different genetic mutations including adenosine deaminase gene (ADA and the procollagen X gene (COL10A1).

Causes of Skeletal Dysplasia

Most cases of this disorder are genetic. The disease is caused by genetic abnormalities or mutations which are capable of passing from one generation to another. In some cases, however, the condition may arise without any underlying genetic factors. In such cases, it might be found to occur due to problems associated with the pituitary gland.

Demographics of Skeletal Dysplasia

SD is a rare disease by nature and is estimated to affect in 1 out of every 10000 patients, or one out of 4000 children. However, the disease mainly occurs in childhood. Due to this reason, an accurate analysis of the demographics is not possible. The disease is reported to affect both males and females equally.

Skeletal Dysplasia Symptoms

The symptoms of SD mainly depend on its type and the cause. Some of the common signs and symptoms of the condition are:

• Reduced growth of bones in the legs and arms, which makes them shorter than usual.
• Disproportionate appearance of the body, caused by shortness of limbs.
• Abnormal appearance of the face and heart
• Various abnormalities in the skull

Diagnosis of Skeletal Dysplasia

The condition can be diagnosed by a number of methods, which include:

Picture 2 - Skeletal Dysplasia Image

X-ray scan

It is the easiest diagnostic test for SD. The appearance of deformities like bowing or arms, abnormal vertebra and pelvis, stripped epiphyses in the X-ray scan indicate that the person may be suffering from SD.

CT and MRI scans

These are also used to diagnose this disease. These tests are used to analyze the intensity of SD symptoms.

Chromosomal analysis

It is another advanced technique used for the diagnosis of SD. Similarly, there are various other advanced methods like sleep analysis, histological studies and molecular analysis that help in its diagnosis.

Treatment of Skeletal Dysplasia

The treatment for SD-affected children is started at initial stages. It involves procedures like neonatal resuscitation. This is more important in children having small thoracic cavity in than normal. The more serious symptoms of SD are associated with obesity. Hence, the various treatment approaches for the condition also include methods for keeping the weight of patients in check. Excess weight can cause problems like difficulty in breathing and spinal cord compression in affected people. The surgical methods of treatment mainly depend on the intensity of the disease. Spinal Column Fusion and surgical bone-lengthening are the most commonly employed procedures for this disorder.

Even though some cases of SD are life-threatening for newborns or infants, many of them are associated with normal or near-normal lifespan. Parents of patients diagnosed with this disorder should opt for genetic counseling before planning another child.

References:

http://www.healthline.com/galecontent/skeletal-dysplasia

http://www.nemours.org/content/nemours/www/service/medical/orthopedics/dysplasia.html

http://www.novonordisk.com/therapy_areas/growth_hormone/public/growth_disorders/skeletal_dysplasia.asp

http://en.wikipedia.org/wiki/Dwarfism

Cinnamon is a spice obtained from the inner bark of some trees and is used in both sweet and savory foods. This is a nutritional spice and full of health benefits. It was once considered to be more valuable than gold in Sri Lanka.

Cinnamon Health Benefits

Besides using it for cooking purpose, cinnamon is well known for its amazing health benefits. It is useful in curing problems like:

Picture 1 - Cinnamon

Diabetes

Diabetes is a common problem. Around one in every five individuals suffers from this health issue. The daily intake of this spice reduces the diabetes level to a great extent. Those suffering from type 2 diabetes are recommended to have 3 or 6 grams of cinnamon per day to manage the condition.

Cholesterol

Fluctuation in cholesterol level is a common complaint today. ½ tablespoon of Cinnamon per day can lower your bad cholesterol level.

Leukemia

Cinnamon is effective in treating Leukemia. Daily intake reduces the proliferation of leukemia cells in our body.

Weight Loss

It can also help lose excess weight. Those suffering from weight problems are suggested to add cinnamon to their regular meals. The spice can be added to breakfast cereal and can also be sprinkled on apple and other fruits. Those who wish to get quicker results should have it daily.

Arthritis

Daily intake of this spice is especially beneficial for the bones. According to a recent study, the spice reduces the risk of Rheumatoid Arthritis. Regular consumption of the substance reduces over-activity of Osteoclasts.

Belly fat

Cinnamon can be very effective in losing belly fat. The best aspect of this spice is the fact that it can break down sugar and pass it out of the blood stream, thus helping you lose belly fat. It also relieves stiffness of muscles and joints.

Cancer

Cancer is a life threatening disease and one of the major causes of death for many people. Cancer patients are recommended to have one tablespoon of this substance along with the same quantity of honey for three times a day. This home-made remedy works well in treating cancer to a great extent.

Cold and cough

Apart from being a cooking spice, Cinnamon is used for curing cold and cough. It has long been used in Ayurveda for the treatment of cough and cold. It is better to add this spice in every food you consume for enjoying its other health benefits. One of the finest home remedies for treating cough and cold is to add cinnamon stick to boiling water and have the solution twice a day after removing the stick.

Diarrhea

The best health benefits that cinnamon offers is to reduce flatulence and bloating, stimulating the appetite and help stop diarrhea. Diarrhea is a common stomach infection. Cinnamon acts as a digestive aid to promote proper functioning of bowels. This helps reduce the symptoms of indigestion or vomiting that one can experience because of Diarrhea. Due to its anti-bacterial properties, the spice helps get rid of bacterial infection.

Eczema

Eczema is a skin condition characterized by swollen, itchy skin. Both honey and cinnamon are effective in treating this skin ailment. Add this spice to your foods and watch the effect.

Fibroid Tumor

Fibroid tumors are caused by an abnormal growth in the uterus and are commonly found in women aged over 30 years. This spice is used for eliminating bleeding associated with fibroid tumor. You need to take 5 to 10 drops of cinnamon oil after every 15 minutes until the bleeding stops.

Gout

Gout is a form of arthritis affecting the big toe and also the other peripheral joints. Daily intake of Cinnamon makes the bone and muscles stronger. It reduces risk of gout and other forms of arthritis.

Immune system

Daily use of this spice, along with honey, helps strengthen the immune system of the body. It also provides protection from viral as well as bacterial attacks. Volatile oil derived from cinnamon bark has antiviral, antibacterial and antifungal properties.

Joint pain

This spice offers numerous health benefits. Its most powerful benefit is in the treatment of joint pain. Effective combination of honey and cinnamon cures joint pain faster compared to that of the other remedies.

Kidney problem

This material is well-known for its culinary as well as medicinal use. Cinnamon is effective in curing kidney problem. It also helps relieve some health conditions that enhance the risk of getting affected by kidney disorders.

Pregnancy

Pregnant women are recommended to have foods containing cinnamon with little risk of side effects. However, it is also said by some that the benefits of this substance are not specific to pregnancy.

Infections

Cinnamon consists of anti-bacterial, antifungal and anti-parisitic properties that helps in treating both internal and external infections. The spice is quite effective in curing yeast infections, stomach ulcers, oral infections as well as head lice.

Menstruation cramping

The substance is good for the health of women. Its daily intake helps in getting relief from menstrual cramping and other feminine problems.

Breastfeeding

Study says that daily consumption of this spice aids in the secretion of breast milk. Due to this reason, doctors recommend new mothers to have this spice daily.

Unwanted birth

Cinnamon is effective in natural birth control. Daily intake after child birth delays menstruation, thus helping avoid conception.

Indigestion

It also helps in curing digestion problems. It is effective for indigestion, vomiting, upset stomach, and flatulence. Cinnamon is useful in removing gas from the stomach and intestines. It also eliminates acidity and morning sickness.

Food spoilage

Cinnamon acts as a great food preserver. When added to food, it prevents bacterial growth and food spoilage. This helps in store the food for a long time.

Headaches

Normal headache caused by cold wind is best cured by applying a thin paste of powdered cinnamon mixed in water on the forehead. This is a quicker remedy that one can apply.

Pimples

The substance helps in removing blood impurities that results in pimple free skin. Daily intake of foods containing cinnamon surely removes blackheads and pimples.

Urinary Tract Infections

People who consume Cinnamon every day report a lower incidence of urinary tract infection. This is a purely natural material and helps in secretion and discharge of urine.

Anti clotting Agent

This spice acts as an anti-clotting agent. Cinnamaldehyde, a compound present in this cooking spice, affects blood platelets. Cinnamaldehyde also prevents unwanted clumping of blood platelets.

Cinnamon Side Effects

Overconsumption of this cooking spice may result in some side effects. Know about some of the primary side effects of this aromatic substance.

Picture 2 - Cinnamon Image

Skin irritation

Skin irritation is the main side effect of this spice. Sometimes, direct application of cinnamon oil to the skin results in skin irritation. It may also cause severe burning and irritation to exposed skin.

Stomach Irritation

People having digestive problem should not have foods containing cinnamon. Large amounts of this substance can lead to irregular bowel movements.

Heart Problem

Overconsumption of the spice results in increased heart rate which can be life-threatening. In kids, increased heart rate is linked to Cinnamon oil poisoning.

Mouth ulcers

Those having ulcers in mouth can experience burning sensation after consuming Cinnamon.

Gingivitis

Overuse of the spice not only results in Gingivitis but also Perioral dermatis. Gingivitis refers to inflammation of gums and Perioral dermatitis is characterized by development of rashes all over the skin.

Drowsiness

Too much of this eatable may result in drowsiness and excessive perspiration on the palms.

Liver

Higher amounts of this spice can affect liver. Naturally, having a proper dosage is necessary.

Dyspnea

Improper usage of the spice may result in a type of respiratory disorder known as Dyspnea.

Blood Sugar levels

Cinnamon bark may affect blood sugar level and can also interfere with blood sugar control during and after surgery.

Breathing difficulties

Over consumption of cinnamon also makes some people suffer from breathing problems. In case you already have breathing problem, intake of this substance is not required every day. Having this cooking spice once a week is enough.

Diarrhea

Over consumption of the spice is said to lead to Diarrhea and other stomach infections. Those already suffering from digestive problems are recommended not to have cinnamon in larger amount.

Pregnant women are suggested not to have foods containing large amount of this spice due to its side effects. It is better to consult a doctor before using this spice for cooking. The best way to avoid these side effects is to know the proper dosage.

References:

http://en.wikipedia.org/wiki/Cinnamon

http://www.healthdiaries.com/eatthis/10-health-benefits-of-cinnamon.html

http://www.whfoods.com/genpage.php?tname=foodspice&dbid=68

http://nccam.nih.gov/health/cinnamon

Circadian Rhythm Sleep Disorder Definition

It refers to a family of several types of sleep disorders that affects sleep timing. People suffering from this condition fail to go to sleep and wake up at normal times. This affects their social needs and even various everyday activities such as going to school or workplace. However, they usually get as much sleep as required if they are allowed to fall asleep and wake up at the times their bodies want to.

Circadian Rhythm Sleep Disorder Prevalence

CRSD affect infants, children and adults. However, the exact frequency of this disorder is yet unknown.

Circadian Rhythm Sleep Disorder Types

The group of disorders is classified into two categories:

Picture 1 - Circadian Rhythm Sleep Disorder

Extrinsic Category

Extrinsic refers to something that originates outside an organism or a system rather than within it. Two types of this condition, which may occur from non-organic origin, are:

Jet Lag

The condition usually arises when an individual travels to east or west for several hours or crosses many time zones. The body may require several days to adjust to the environment of the new time zone. This disorder is named so as it occurs due to prolonged travelling in jet aircrafts.

Shift Work Syndrome

Individuals suffering from this syndrome have various problems with alertness, sleep and appetite. It occurs when a person works in a shift when he or she should be asleep according to the circadian rhythms.

Intrinsic category

Intrinsic disorders refer to conditions that occur within an organism or a system. There are 4 intrinsic types of CRSDs. These can be caused due to heredity or by some disease or serious head injury. These conditions are usually chronic and cannot be cured completely, although proper treatment helps keep the symptoms in check. Read on to know more about the four intrinsic types of this disorder:

Advanced Sleep-Phase Syndrome (ASPS)

It is a very rare type of CRSD. Individuals suffering from ASPS start feeling sleepy during early evening and go to bed at around 7 pm or 8 pm. They wake up at around 3 am in the morning. The quality of their sleep is normal. It is common for several members of a same family to have Advanced Sleep-Phase Syndrome.

Delayed Sleep-Phase Syndrome (DSPS)

This is a common CRSD and can be described as the opposite of Advanced Sleep-Phase Syndrome. Its offset generally occurs during early childhood or puberty. People with DSPS generally go to sleep between 3 am and 6 am. They cannot wake up before 12 in the noon, which means they cannot attend school or job in the morning. Sometimes, the symptoms subside as an individual reaches his or her 20s. However, this does not mean the syndrome is cured after 20 years of age as it is a chronic condition.

Non-24-Hour Sleep-Wake Syndrome (Non-24)

It is another extremely rare type of CRSD, generally affecting blind people. Sometimes, it also affects people with normal sight. Non-24 patients are not able to adjust to the regular light/dark cycle. Due to this reason, they sleep 1 to 2 hours later than the previous day and take the same duration to wake up after the time that they usually get up at. The times of their appetite, alertness, hormone cycles and body temperature rhythm change continuously and return to a particular time every few weeks. This pattern is known as “Free Running Sleep”.

Irregular Sleep-Wake Disorder

Another rare type of CRSD, it may occur due to various factors, such as some type of mental handicap, head injury and dementia. Irregular sleep-wake disorder patients sleep and wake many times in a single day. However, these times vary every day.

Circadian Rhythm Sleep Disorder Causes

These sleep disorders can occur due to various different causes. Difference in the normal sleeping demands and the natural sleep-wake cycle of a person and a change in the sleep-wake schedule are the two main causes of the disorder. CRSD may also occur due to pregnancy. Other common factors causing the condition include:

• Shift work
• Pregnancy
• Time zone changes
• Medications
• Changes in routine

Circadian Rhythm Sleep Disorder Symptoms

Know about some of the main symptoms associated with each type of CRSD:

Jet Lag

• Feeling disoriented all the time
• Tiredness and fatigue
• Staying awake during night
• Difficulties in concentration
• Loss of drive
• General malaise
• Headache

Delayed Sleep-Phase Syndrome

• Feeling Sleepy when one should be awake
• Excessive sleepiness or Insomnia
• Difficulty in attending the morning activities

Advanced Sleep Phase Syndrome

• Reduced alertness during daytime
• Sleepiness during evening
• A tendency of waking up earlier than the desired time

Shift Work Sleep Disorder

• Excessive sleepiness
• Increase in the stress levels
• Difficulty in concentration
• Insomnia
• Lack of energy
• Headache
• Mood related problems like irritability

Circadian Rhythm Sleep Disorder Prevention

The disorder mainly occurs due to various environmental factors, such as:

• Travelling long distances
• Working in shifts
• Following a lifestyle that disrupts sleep

It is possible to prevent the condition by avoiding these stress factors.

Circadian Rhythm Sleep Disorder Tests and Diagnosis

Physicians generally ask patients to record their sleep and wake timings and hand it over to them so that they can study the sleep-wake patterns. It is only after studying these patterns that a doctor can ascertain whether his/her patient require a complete diagnosis. A sleep lab observation may also be carried out. Physicians try to find the mismatch between the circadian sleep-wake pattern of the patient and the pattern required by his or her environment.

The diagnosis of CRSD must not be confused with the normal adjustments made by a person to match his or her schedule. An individual should be suffering from persistent and recurring sleep disruptions, affecting his or her social and occupational activities, to be positively diagnosed with this condition.

Circadian Rhythm Sleep Disorder Treatment and Management

Treatment depends on the type of sleep disorder that a person is suffering from. The main goal of all the treatment options is to alter the sleep patterns of the patient in a way that would allow the person to maintain a normal lifestyle. People suffering from Shift Work and Jet Lag type of CRSDs are able to reduce the symptoms by travelling less frequently or returning to normal work schedule. The treatment options for CRSD include:

Lifestyle Changes

Adjusting and changing some aspects of the daily life, such as exposure to daylight, can help one combat the disorder better. Changing the daily routine and strategically scheduling the nap times enable a person to cope better with the sleep disorder.

Sleep Hygiene

Doctors instruct about developing a healthy sleeping habit instead of using drugs and alcohol in order to bring about sleepiness in CRSD patients.

Picture 2 - Circadian Rhythm Sleep Disorder Image

Bright Light Therapy

This is among the most common therapies used for treating CRSD. In Bright Light Therapy, the eyes are exposed to a safe level of bright, intense light for a brief period at specific times in a day in order to synchronize the body clock.

Medications

Sometimes, doctors may prescribe a hypnotic medicine to a CRSD patient for promoting sleep. Stimulants can be used for promoting wakefulness.

Melatonin

The brain produces a hormone named “Melatonin” which is believed to be very important for maintaining the normal sleep-wake cycle. CRSD patients are sometimes prescribed with doses of this hormone to relieve the condition.

Chronotherapy

The behavioral technique used for gradually adjusting the bedtime in a systematic manner is known as Chronotherapy. This helps alter the sleep-wake cycle of the patient to achieve the desired bedtime.

Circadian Rhythm Sleep Disorder Prognosis

It is very difficult for CRSD patients to change their sleeping and waking patterns and maintain them for long duration. Patients often experience a reversal of the symptoms approximately 2 weeks after achieving a normal sleep and wake schedule. Generally, however, the treatments have a positive outcome.

In case of hereditary CRSDs, the therapies cannot completely cure the condition. Chronic CRSDs caused by some head trauma or disease cannot be cured as well. However, the symptoms of both these types of CRSD can be kept in check by proper treatment.

Circadian Rhythm Sleep Disorders can seriously affect the daily life of an individual. However, proper treatment helps reduce its symptoms and allows patients to lead a normal life.

References:

http://www.aasmnet.org/resources/factsheets/crsd.pdf

http://www.thesleepdisorder.com/circadian_rhythm_sleep_disorders_causes_symptoms.html

http://www.sleep.com/content/circadian-rhythm-sleep-disorder

http://www.webmd.com/sleep-disorders/guide/circadian-rhythm-disorders-cause

http://www.aasmnet.org/Resources/FactSheets/CRSD.pdf

What is Occipital Neuralgia?

Occipital Neuralgia is a neurological condition characterized by injury or inflammation of occipital nerves which gives rise to intense pain in the areas where the nerves are present.

Causes of Occipital Neuralgia

Any factor or condition that leads to a damage of the occipital nerves can result in this medical disorder. These include:

Picture 1 - Occipital Neuralgia

• Tumors in the neck
• Pressure on the neck or tight neck muscles
• Trauma
• Health complications, such as Osteochondroma
• Gout
• Diabetes
• Infection in the nerves present on the back of head
• Continuous neck contraction
• Vascular Compression
• Exposure to certain chemicals

It should be noted that the abovementioned causes are actually the risk factors for this neurological disorder. People with such conditions or factors do not necessarily suffer from this medical problem. However, you should take proper precautions to avoid these factors.

Symptoms of Occipital Neuralgia

The condition is characterized by a number of symptoms, which are typical in patients. Some of these may be similar to those of common types of headaches. The symptoms of this disease persist for anytime between a few days to months. The type of the symptoms tends to differ from one person to another although the nature of them remains the same. Some of the typical symptoms of this neurological condition involve:

• Intense burning pain in the back of head and eye
• Origin of the pain at the base of the head and its upward movement
• Pain at the back of the eye
• Increased sensitivity to light
• Pain during neck movements

The serious symptoms of this disorder, which demand immediate medical attention, include:

• Difficulty in walking or maintaining proper balance
• Weakness or numbness of the muscles
• Mental confusion
• Loss of consciousness, in extreme cases
• Intense constant headache
• Loss of vision, in acute cases

You should be more careful with acute symptoms, such as these. If neglected, these may even cause death. You need to contact a professional doctor as soon as you notice these problems.

Diagnosis of Occipital Neuralgia

The diagnosis of this medical condition requires different tests to be performed. If you are experiencing the above mentioned symptoms, you should visit a doctor for the diagnosis of this disease. The commonly used diagnostic procedures include:

• Physical examination, for analysis of any injury
• Medical examinations, such as blood test, MRI scan or CAT scan. CAT scan shows the spinal canal, its structures, and the deformities present. MRI scan, on the other hand, shows spinal cord impingement.
• Use of an anesthetic to check the response to pain. If the anesthetic succeeds in relieving the pain, it can be concluded that the person is having occipital neuralgia.

The symptoms of Occipital neuralgia are similar to those of migraine and some other types of headache. Thus, a proper diagnosis of the condition is necessary to distinguish it from apparently similar disorders. Proper diagnosis of occipital neuralgia is also necessary for choosing the correct treatment for the condition.

Treatment of Occipital Neuralgia

Different forms of treatment are available for this condition, depending on the intensity of its symptoms. You can either take some measures on your own or consult a physician as per the severity of the condition.

Self Treatment

Self treatment of the disease involves measures for controlling the pain associated with occipital neuralgia. You can take following measures to reduce the pain:

• Avoid unnecessary neck movements
• Take proper rest
• Apply heat gently to your neck
• Take over-the-counter anti-inflammatory drugs, such as Naproxen, to relieve the pain. However, be careful with the dosage as an overdose of these medications can result in serious health complications.

Massaging the back of the head or neck relieves pain by improving the flow of blood and oxygen. Massaging the affected parts is one of the most effective self-treatment procedures for this disorder. You can take the help of a family member for this purpose.

Medical Treatment

The drugs prescribed by doctors for treating this problem include:

• Muscle relaxants
• Nerve blockers and steroid injections
• Anticonvulsant drugs like Carabamazepine and Gabapentin
• Anti-depressant drugs

Picture 2 - Occipital Neuralgia Image

In some cases, surgery might be required. Operative procedures are especially needed when the condition does not show any response to medications. The surgery for occipital neuralgia consists of:

• Microvascular decompression: This involves adjusting the injured or inflamed nerves by the doctor. Since the nerves are adjusted in this process, the pain due to injury or inflammation also disappears.
• Occipital Nerve Stimulation: This process makes use of a neurostimulator to provide electrical impulses to the occipital nerves.

Doctors also often recommend back and neck exercises to patients. These provide strength to the muscles present in the affected parts. This results in a better posture which eliminates the chances of headache due to extra strain on the neck muscles.

Make sure that you consult a good medical professional at the earliest signs of this disorder. With proper rest, medications and adherence to the advice of your doctor you can easily recover from Occipital Neuralgia.

References:

http://www.localhealth.com/article/occipital-neuralgia

http://www.healthscout.com/ency/1/536/main.html

http://en.wikipedia.org/wiki/Occipital_neuralgia

http://www.webmd.com/migraines-headaches/occipital-neuralgia-symptoms-causes-treatments

Parathyroid adenoma Definition

It is a condition in which one of the four parathyroid glands increases in size and produces parathyroid hormone (PTH) in excess. It is characterized by the formation of a benign tumor in the gland.

Parathyroid glands that are located in the neck, produce PTH and are endocrine in nature. The major function of this hormone is to regulate and maintain the calcium level of the body within a very narrow range. In this condition, the parathyroid glands are not able to maintain normal levels of calcium in blood, causing very serious consequences. The excess PTH circulates in the bloodstream and releases calcium from the bones into the blood. This over activity of the parathyroid glands is known as Hyperparathyroidism or Parathyroid disease.

Parathyroid adenoma Incidence

Women who are above 60 years of age have the highest possibility of developing this benign state. This condition usually prevails in menopausal patients. Production of estrogen, a hormone responsible for regulation of PTH, gradually drops in these patients. This further aggravates the condition.

Parathyroid adenoma Symptoms

Picture 1 - Parathyroid adenoma

It is considered as an asymptomatic disorder, owing to the absence of any visual symptoms. In most cases, patients do not realize the presence of this condition. It is usually discovered during routine blood tests conducted for detecting other medical conditions with similar symptoms.

Bone fractures

During hyperparathyroidism, bones constantly release calcium into the blood resulting in bone density loss. This usually occurs in patients with Osteoporosis who suffer from very fragile bones. In this condition, any mild trauma or stress can easily damage the bones and patients are always at a higher risk for a minor or major fracture.

Confusion

Patients may often feel disoriented and irritated. They may exhibit unusual behavior and often act aggressively. Some patients may also develop dementia or memory loss.

Constipation

Over activity of the parathyroid glands increases the calcium levels in the blood, causing infrequent bowel movements.

Kidney stones

Elevated levels of blood calcium may lead to development of kidney stones. The major function of the kidney is to filter and clean the blood. Constant filtering of large amounts of blood calcium results in excess deposition of the mineral within the renal tubules of the kidney. This leads to kidney stone formation.

Fatigue

Patients undergo chronic tiredness and lethargy, owing to deposition of calcium on the muscles joint. The body gets exhausted very easily and performing routine activities may become challenging.

Loss of appetite

High levels of calcium may cause weight loss by inhibiting the activity of fat cells and breaking down more fat through a process called lipolysis. The resulting fatty acids serve as a source of energy that reduces the need to eat.

Nausea

Some patients may experience acute discomfort in the abdominal region with an involuntary urge to vomit.

Parathyroid adenoma Causes

The exact cause behind the formation of such a benign tumor is not known. However there are certain risk factors that may give rise to this condition.

Heredity

It is often considered to be a inherited condition due to passing of traits from parents to offspring.

Radiation exposure

Long-term exposure of the head or neck to moderate doses of radiation can lead to formation of tumor. Nuclear power plant accidents and cosmic rays are some of the common sources from where harmful radiations are released.

Parathyroid adenoma Diagnosis

Some of the extensively used diagnostic tests for this disorder are:

Blood test

It is a primary diagnostic test conducted to detect the levels of Parathyroid hormone and calcium in the blood. The amount of these two substances is generally higher in patients with Parathyroid adenoma.

Urine test

Excess amount of calcium in the body is generally passed out through urine. Urine test is a 24-hour examination that can easily monitor calcium release through urine. It may also help in assessing the formation of kidney stones due to increased levels of calcium.

Bone densitometry

It is an enhanced form of X-ray that helps determine Osteoporosis (a disorder that involves a gradual loss of calcium from the bones due to over activity of PTH). In this procedure, the bone mineral density (BMD), representing the amount of bone in the body is measured. Patients suffering from this disorder have a low BMD, which indicates a higher risk of fractures. Bones that are usually tested the most are located in the spine, hips and forearm.

Kidney test

Standard x-rays of the kidneys can detect the presence of calcium stones. This is a very quick and viable technique to monitor the growth of a kidney stone. The stones generally appear white on the x-ray images that are obtained after the test.

CT Scans

Computerized tomography (CT) scan is an imaging procedure that combines a series of X-ray views and computer processing to create cross-sectional images of the kidney for detecting any stones.

Ultrasound

Ultrasound imaging of the kidneys can also help in detecting formation of any stones that blocks the outflow of urine. Calcium deposits harden the urinary tract and obstruct urination. Ultrasound is highly useful in cases where x-rays or CT scans are discouraged or do not yield any result.

Sestamibi neck scan

It is a nuclear medicine procedure that uses a radiopharmaceutical drug known as Tc99m to identify overactive parathyroid gland. The affected gland absorbs the gamma radiation that is emitted from the drug rapidly and is captured by a gamma camera. The images that are obtained after the scan show a brighter and swollen parathyroid gland compared to the other three glands which are normal.

Magnetic resonance imaging (MRI) of the neck

This particular imaging test helps detect in the Parathyroid gland the presence of tumor that appears dark in contrast to the adjacent tissues of the neck.

Parathyroid adenoma Treatment

The treatment or this disease involves:

Picture 2 - Parathyroid adenoma Image

Parathyroidectomy

It is a surgical removal of the benign tumor from the affected parathyroid gland. In severe cases, the affected gland may also be removed completely from the body in order to prevent excessive production of PTH. Sestamibi scanning is used as a preoperative method to identify the location of the glands. In this procedure, an incision is initially done in the neck under the Adam’s apple (protrusion). This is followed by removal of the overactive parathyroid gland or tumor. Endoscopic parathyroidectomy is a non-invasive form of this surgical procedure where an endoscope is inserted into the neck for removal of the benign tumor.

Medication

Calcimimetic is a drug that mimics calcium circulating in the blood. Presence of this drug in the blood may prevent the parathyroid glands from releasing excess PTH. Patients are often administered bisphosphonates that prevents the loss of calcium from the bones that normally occurs during osteoporosis.

Estrogen replacement therapy (ERT)

Regulation of PTH is normally controlled by estrogen, a female steroid hormone required for menstruation and reproduction. However, in this disorder, most number of women undergo menopause, due to which there is decreased level of estrogen in the body. ERT is a hormonal replacement procedure where estrogen is administered to the patients in form of an oral pill, cream or gel. The estrogen level in the body increases in this way, inhibiting loss of calcium from the bones.

Significant developments have been observed in both medical and surgical treatments of parathyroid adenoma.

Parathyroid adenoma is not a fatal condition and is completely curable if diagnosis is done at an early stage. If you suspect yourself to be experiencing the symptoms of this disorder, immediately get in touch with a doctor.

References:

http://emedicine.medscape.com/article/384024-overview

http://www.britannica.com/EBchecked/topic/443325/parathyroid-adenoma

http://en.wikipedia.org/wiki/Parathyroid_adenoma

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002170/

Crouzon Syndrome Definition

It is a hereditary disease characterized by anatomical abnormalities on the skull of a child upon birth. The name Crouzon’s Syndrome or Crouzon Syndrome, as others may use, was discovered by a French surgeon of the same name. His findings were published in 1912 and reported a case involving a mother and a child, both of whom were suffering from the same condition.

Crouzon Syndrome Symptoms

Some of the most common symptoms observed in children suffering from Crouzon Syndrome are:

Picture 1 - Crouzon Syndrome

Premature Fusion of the Sutures

This is considered to be one of the most dangerous problems exhibited by suffering infants. Premature fusion of the sutures makes it difficult for the brain to grow. This makes surgery absolutely necessary for patients. Unfortunately, it is very difficult to perform surgery in children. Due to this, parents need to wait a while before surgeons can proceed with this type of operation.

Modern medical technology has made it possible for infants to have a relatively normal skull shape along with a full bone coverage even if after the surgery. To ensure higher chances of success, parents need to seek the assistance of an experienced surgeon who is capable of performing these types of operation.

Sphenoid Bone

Flattened temples are another noticeable feature observed in patients with this syndrome. This is also one of the major criteria necessary to be checked before an individual can be diagnosed with Crouzon’s Syndrome. A debilitating cranial symptom, flattened temples can easily be noticed. Unfortunately, it is one aspect that is impossible to be corrected by surgery.

Exophthalmos

Suffering children also exhibit protruding eyes, which is another obvious feature of this syndrome. Just like the sphenoid bone feature, this is impossible to be corrected by surgery. However, its severity can be reduced through various medical procedures. Due to this aspect, it is quite difficult for suffering children to have a normal life with their friends. They may easily be teased during their younger years, but with strong family support these children can learn to cope up with their condition.

Nasal Passages

The nasal passage of affected children does not grow out as far as in normal people. It is smaller and is slightly inclined further towards the back of the face. It is combined with an unusually large lower jaw that causes the lower teeth to be misaligned with the upper teeth. Due to this anatomical disorder, individuals find it difficult to breath because of the reduced airflow towards the nose. A lengthy and complicated procedure to help pull out the midface can be performed, but it is a risk parents and children has to take. Aside from this, the expense may not be too inviting on the pocket.

Large Jaw

The large jaw, as mentioned earlier, makes the midface hypoplasia appear even worse that it already is. As a result, the lower teeth further goes out of alignment with the upper teeth. Fortunately, this is one of the problems that can be corrected through surgery.

Auditory Canals

Individuals with this disorder are most likely to suffer from hearing loss because of the many structural abnormalities in the craniofacial aspect of the skull. This results to damaged auditory canals. Moreover, patients are also most likely to become sufferers of sleep apnea.

Vertebral Malformations

Curvature of the spine, along with ankylosis of the elbow joints and digital fusion, is also seen as another prominent characteristic of this condition.

Other reported abnormalities include eye disorders, mitral valve disorders, valve blockages, and respiratory dysfunctions. At present, medical specialists are constantly conducting researches to find methods that can help understand this condition. They are also trying their best to find alternative solutions to relieve patients of discomfort and psychological stress.

Crouzon Syndrome Causes

The condition is said to be associated with genetics. There are many clinical reports which suggest that if a parent suffers from Crouzon Syndrome then the child has 50% of chances of suffering from the same condition. Moreover, those who will inherit the condition are most likely to suffer from a new mutation that was not present in their parent. However, those who do not have a history of this syndrome are not free from this condition either.

Researchers are still trying to find out the gene that is responsible for the occurrence of this condition. Most recent studies show the chemical gene fibroblast growth factor receptor 2 or FGFR2 as the main cause of this disorder. FGFR2 is responsible for the formation of skin, connective tissues and bones that affects patients with this ailment.

Crouzon Syndrome Treatment

Surgery is regarded as the only possible treatment for those born with the disease. Some of the primary surgical options for curing this disorder include:

Picture 2 - Crouzon Syndrome Image

Premature Fusion

As mentioned earlier, this is one of the major concerns of doctors upon positively diagnosing a child with Crouzon syndrome. This has to be done for the reason that it will help prevent potential brain damage.

The procedure requires both the removal and replacement of the cranial vault in order to relieve pressure on the brain. Partial craniectomy may also be done wherein part of the skull may be stripped and replaced. However, there are rare instances wherein the entire skull has to be removed and fragmented before it is put back in place. The shape of the skull is retained through external molds with the aid of lateral canthal advancement.

Exophthalmos

Two types of surgeries may be done to resolve this condition: orbital surgeries and non-orbital surgeries. The latter is done with minimal interference focusing on the bone surrounding the eye socket. This is done by grafting a bone near the browline or probably the cheekbone that does not involve surgery near the orbits proper. Orbital surgery would involve placing the eyes further back into the orbit or ultimately changing its position.

Large Jaw Surgery

This is probably one of the easiest things that need to be resolved. The surgical procedures may even be invisible to the eyes through the scar-less Lower Jaw reduction procedure. This is done by creating an incision that is performed from the inside of the mouth. After which, it is held together by the use of wires while waiting for the bone to entirely heal.

Surgical operations for this ailment should not be handled by any ordinary doctor. Only an experienced craniofacial team should be in-charge of the operation. This is because someone inexperienced with this medical procedure can face bone irregularities, infection, and collection of blood. The consequence of a recorrective surgery may be even worse.

It may be a shock to discover your child to be suffering from this syndrome. Nonetheless, pamper your baby with attention to make it feel protected and cared for. Managing this condition can be stressful for you. Join a group or consult a counselor for support. Read and educate yourself with the latest techniques in handling a child with this ailment.

References:

http://ghr.nlm.nih.gov/condition/crouzon-syndrome

http://www.bbc.co.uk/health/physical_health/conditions/crouzon2.shtml

http://www.seattlechildrens.org/medical-conditions/bone-joint-muscle-conditions/crouzon/

http://www.cleftline.org/what-we-do/publications/fact-sheets/crouzon-syndrome/

Dentinogenesis imperfecta Definition

Generally speaking, this is a condition characterized by the abnormal formation of the dentin. It is usually inherited and is clinically heterogeneous. It may affect the teeth portion alone or can also be associated with Osteogenesis imperfecta.

The disorder was discovered by Barret as early as 1882. However, its name was coined only in 1939 by Robert and Schour.

Types of Dentinogenesis imperfecta

The condition is classified into various types, each of which has its own prominent characteristics:

Picture 1 - Dentinogenesis imperfecta

Dentinogenesis Imperfecta Type I

This is rare condition similar to Osteogenesis imperfecta, also known as Brittle Bone Disease.

Dentinogenesis Imperfecta Type II

This condition occurs in only 1 out of every 8000 births. The disorder may have a small incidence but has resulted in various problems and inconveniences.

Dentinogenesis Imperfecta Type III

This is a very rare condition that is typical to the triracial Brandywine population of Maryland. It is only not connected with other inherited diseases like osteogenesis imperfecta.

Dentinogenesis imperfect Symptoms

Know about the symptoms of each type of this condition:

Symptoms of Dentinogenesis imperfecta Type I

It is characterized by several tooth structure abnormalities, some of which include:

• Bluish-gray teeth
• Bulbous teeth crowns
• Absent root canals
• Absent root tooth
• Amber colored teeth
• Misaligned teeth
• Recurring dental abscess
• Blue sclera
• Enamel separation from the ivory
• Very small pulp chambers
• Very small roots of the tooth
• Very small canals of the tooth

Symptoms of Dentinogenesis Imperfecta Type II

It reveals very similar features present in Type I dentinogenesis imperfecta but pulp chamber obliteration which is prominent even prior to tooth eruption. It also reveals an abnormal crown and root morphology under radiographic evaluation. Moreover, it is not in association with osteogenesis imperfecta. Other specifics are as follows:

• Thickened dentin
• Resulted obliteration of the pulp chamber
• Discoloration of the primary dentition producing yellow, brown, or opalescent gray color

Symptoms of Dentinogenesis Imperfecta Type III

Similarly though, this type of Dentinogenesis imperfecta exhibits pale-colored and lustrous teeth. It is awkwardly formed and is situated in the gums where it easily wears and breaks away easily. It is also called Brandywine symptom because it is interestingly distinct in southern Maryland.

Dentinogenesis Imperfecta Causes

Know about the causes of various forms of this condition.

Causes of Dentinogenesis Imperfecta Type I

The main cause of this condition is collagen gene mutation. It arises as a part of Osteogenesis imperfecta, resulting from mutations in any of various types of genes.

Causes of Dentinogenesis Imperfecta Type II

Research shows that the condition is a result of an autosomal dominant Mendelian trait that has a 100% penetration. The gene responsible for this condition has been revealed to be Dentin sialophophoprotein or DSPP. It has been located to chromosome 4121.3 and is a precursor protein cleaved into two dentin-specific proteins namely dentin phosphoroprotein (DPP) and dentin sialoprotein (DSP). However, the heterogenecity is still unknown.

As a clue, dentists often resolve this condition by looking at the pedigree of the family to see if any previous family member, suffered from the same condition. Since the gene has complete penetration, a recurrence within the family tree confirms the diagnosis of Dentinogenesis imperfecta.

Causes of Dentinogenesis Imperfecta Type III

It results from mutations occurring in the DSPP (Dentin sialophosphoprotein) gene that is hereditarily acquired in an autosomal dominant manner. The DSPP encodes two main proteins of the dentin extracellular matrix of the tooth.

Dentinogenesis Imperfecta Treatment

Dental treatment of this condition varies, depending on its severity. Patients have to be serious about their oral hygiene if they wish to preserve most part of their teeth. It is typical for dentists to conduct a thorough dental evaluation of the condition before conducting any treatment. The fragility of the jaw and the bone has to be analyzed to check if it is capable of hosting restorative dental treatment. Surgical correction is often necessary due to the autosomal recessive nature of this tooth condition. The maximum that dentists can do is to provide restorative treatment so that patients can still flash a normal smile and interact with others without inhibitions. Nevertheless, it may be more difficult to have all of the teeth preserved and protected from possible damage, especially if it is linked to Dentinogenesis Imperfecta Type I.

Early treatment is the best solution to help resolve this condition. This is the only solution that can possibly save your teeth from deterioration. Other benefits of early detection include:

• Preservation of dental health
• Preservation of form, vitality, and size of your teeth
• Prevention of vertical dimension loss
• Maintenance of arch length
• Normal growth of facial bones and the tempero mandibular joint
• Provision of functional dentition
• Aesthetic appearance at an early age
• Freedom from humiliation
• Regain self confidence at an earlier stage

Treatment of this condition is very challenging. It requires a multi-disciplinary approach and is limited to highly skilled dental surgeon and dental practitioners. It often requires a collaborative approach, with an orthodontist and a prosthodontist, for the completion of the entire dental restoration and prevention procedure.

Dentinogenesis imperfecta Treatment Options

The following forms of dentinogenesis imperfecta treatment have been recommended by many experts:

• Stainless steel crowns
• Overdentures
• Jacket crowns
• Pin-retained cast gold thimbles under the acrylic resin crown

One of these or a combination of these methods can be used for the aesthetic restoration of the tooth. It is a long procedure and its success involves a lengthy healing process combined with strict adherence to oral hygiene. The patient has to be oriented with all the procedure that will be done and his consent has to be taken before any of these methods can be performed. Moreover, the financial capacity of the patient should also be checked to guarantee that all of the expenses can be truly met.

Indirect Resin Crown (IRC)

This technique helps restore the maxillary incisors and is often used in the treatment of severe enamel hypoplasia and attrition. It is preferred due to its long lasting intermediate restoration and affordability in comparison with other advanced, yet expensive, forms of treatment for this disease. This method can be used to cure all types of the disorder without posing any threat to the patient.

Treatment of Dentinogenesis Imperfecta in Children

Picture 2 - Dentinogenesis imperfecta Image

There are published cases of treatment of this disorder in children. However, treatment involves certain problems like:

• High cost of operation, since it involves minors
• Possible risk, due to the application of general anesthesia
• Technical problems in the restoration of the teeth
• Postponement of treatment due to the need for general anesthesia application

However, early treatment of this disorder yield various advantages like:

• Preventing possible TMJ problems and arch length complication.
• Boosting self-esteem and self-confidence. Children affected with this disorder require socialization and deprivation of this would lead to loss of valuable time needed for them to have psychological development. Psychological problem is often the hardest thing to resolve in patients.

Early treatment of this condition among children is still the subject of an on-going debate. Nevertheless, the wishes of the parents are taken into high consideration. Their consent is enough for dentists and medical professionals to proceed with the option that they deem necessary to resolve the inconvenience felt by affected children.

Dentists require an evaluation of possible Osteogenesis imperfecta associated with the child’s condition as it means pursuing a different treatment approach.

Dentinogenesis Imperfecta Research Organizations

There are many research organizations dedicated to the understanding of this rare condition, which include:

Osteogenesis Imperfecta Foundation

This organization is concentrated in providing information about Osteogenesis imperfecta. It is a rare disease that is not known to many, but is often associated with Dentinogenesis imperfecta type I. It supports researches and individuals suffering from this condition cope up with their daily struggles.

National Institute of Dental and Craniofacial Research

This research group aims to help improve the dental health of the American population and the world through the efforts of their research team. It is not entirely involved with the disorder but all other diseases associated with the mouth and the craniofacial features of the body.

MUM National Parent-to-Parent Network

It provides the much-needed support to parents of affected children. The organization also offers alternative health solutions that can be used for the assistance of your child.

Although Dentinogenesis imperfecta has not been fully understood yet, researchers and medical communities are striving constantly to make lives better for patients of this disease and their family members.

References:

http://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta

http://rarediseases.info.nih.gov/GARD/Condition/6258/Dentinogenesis_imperfecta_1.aspx

http://www.nacd.in/ijda/volume-02-issue-02/52-dentinogenesis-imperfecta-hereditary-opalescent-dentin

http://www.rightdiagnosis.com/d/dentinogenesis_imperfecta_type_i/intro.htm

What is Aicardi Syndrome?

Aicardi Syndrome is a rare genetic disorder that occurs mainly in females. The disease got its name from Dr. Aicardi, the scientist who studied AS and its symptoms in 1965. The condition is primarily characterized by partial or total absence of the Corpus Callosum (an important part of human brain that connects the two halves), childhood seizure and presence of lesions in the retina.

Aicardi Syndrome Synonyms

The disorder is known by various other names like:

• Agenesis of Corpus Callosum with Infantile Spasms and Ocular Anomalies
• Agenesis of Corpus Callosum with Chorioretinitis Abnormality
• Chorioretinal Anomalies with ACC
• Callosal Agenesis and Ocular Abnormalities
• Corpus Callosum, Agenesis of and Chorioretinal Abnormality

Causes of Aicardi Syndrome

The cause of this disease is still unknown. According to some scientists, the disorder occurs due to a genetic impairment on the X chromosome. Mutations are also held responsible for the development of this genetic defect. This disease may occur in males with 47 chromosomes (including an extra XXY chromosome complement). However, the chances of occurrence of this condition are rare among males. The occurrence of an extra chromosome in males is known as Klinefelter syndrome.

Aicardi Syndrome Symptoms

This condition is typically characterized by a number of symptoms and thus, can easily be recognized. The symptoms arise during infancy itself. Read and learn about some of the commonly noticed symptoms of this disease:

Development of retinal lesions

A typical symptom of the disease is the appearance of lesions on the retina of the eye. This occurrence of retinal lesions is known as Chorioretinal Lacunae and is used for the confirmation of the disorder.

Picture 1 - Aicardi Syndrome

Smaller eyes

The eyes of a child suffering from AS appear to be smaller than usual. Due to retinal lesions and smaller eye size, an AS-affected child faces vision problems.

Spasms

Infantile spams (seizures) are also common in this syndrome. They mark the primary stage of AS.

Inability to move freely

In some cases, abnormalities in the ribs or spinal cord are also been noticed. In such cases, an affected child is not able to move freely and becomes irritated.

Absence of Corpus Callosum

The absence of an important brain structure, called Corpus Callosum, is another typical symptom of this disease. The Corpus Callosum is responsible for connecting the two halves of the brain.

Brain disorders

A number of other brain disorders are also noticed in a child suffering from AS. As the child grows, he/she faces difficulties while learning and interacting with others.

Abnormalities in facial symmetry

In some cases, the disease also impacts the facial symmetry and causes it to become disorganized.

Aicardi Syndrome Diagnosis

As already said, this disease is associated with some unique, rare and typical symptoms like spasms, lesions on the retina and partly or completely missing Corpus Callosum. Due to this reason, a number of diagnostic methods are used for the detection of this syndrome.

Picture 2 - Aicardi Syndrome Image

Ophthalmoscopy

The process involves using an ophthalmoscope to detect the abnormalities of the retina. In case a child is suffering from AS, the device can easily show the presence of yellow- white lesions on the retina.

MRI scanning

MRI scans may be performed to detect the absence of Corpus Callosum and also determine the presence of any other brain abnormality associated with the disease.

Other diagnostic techniques implemented for detection of the disease include EEG and CT scans of the head.

Aicardi Syndrome Treatment

As of now, the condition has no cure. There is no permanent cure for this syndrome as yet. Treatment merely aims at controlling the symptoms of the disorder. Doctors typically prescribe drugs like Vigabatrin or Corticosteroids to prevent the occurrence of seizures or spasms in suffering children. The condition might be improved by providing affected kids with physical and motivational support. In some cases, children might succeed in walking without any support and communicating with others. However, the extent of improvement tends to differ from one case to another and depend on the severity of the syndrome as well as the behavioral therapy provided to the child.

Aicardi Syndrome Prognosis

The prognosis of this disorder varies from patient to patient. The outcome mainly depends on the intensity of symptoms. The occurrence of this disease is noticed between people of all ages ranging from infants to 40-year olds. As already said, a permanent cure for this disease is yet to be discovered.

Aicardi Syndrome Life Expectancy

For AS patients, life expectancy can be limited severely. Most of the children suffering from this syndrome have reduced lifespan due to associated respiratory and skeletal problems. Many patients have premature death due to pulmonary infections.

Aicardi Syndrome Foundation

It is a non-profit organization that provides support and information to children diagnosed with AS and their caregivers. The institution arranges for contribution to AS sufferers and strives to raise awareness of this disease. Its registered address is:

Aicardi Syndrome Foundation

Al and Cindy Meo

P.O. Box 3202

St. Charles, IL 60174

(800) 374-8518

E-mail: aicardi@aol.com

Website: http://www.aicardisyndrome.org/

Aicardi Syndrome Pictures

Check out these images to know how people affected with AS look like. You may find these pictures quite useful for reference.

Aicardi Syndrome is a rare disease in the sense that most people have not heard about the condition. Due to this, the condition tends to be diagnosed at a later time than it normally should be. If you note developmental delays or any of the AS symptoms in your child, get in touch with an expert medical care provider and carry out a proper diagnosis of the disorder.

References:

http://children.webmd.com/aicardi-syndrome

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002629/

http://www.earlyinterventionsupport.com/diagnosis/List/Aicardi-Syndrome.aspx

http://my.clevelandclinic.org/disorders/aicardi_syndrome/hic_aicardi_syndrome.aspx

Dysosmia Definition

It is an olfactory disorder that is related to a distorted sense of smell. In this condition, the olfactory system becomes dysfunctional due to which, patients may have difficulty in smelling or detecting any odor. Although not a serious disorder, it may lead to problems related to the sense of taste. This happens due to the fact that the nasal and oral chambers are interconnected.

Dysosmia Types

Impaired olfaction can manifest itself in various sub-conditions which have their own set of characteristics and causes. These include:

Anosmia

It is generally manifested by insensitivity towards any kind of odor. It can either be acute or chronic, and can also be highly specific to certain odors. Hyposomia is a less serious form of Anosmia where patients have a reduced ability to smell and detect odors. The symptoms of various types of Anosmia may have different causes.

Parosmia

Also known as “Troposmia,” it is a condition in which patients misidentify odors. They not only find it difficult to distinguish between pleasant and unpleasant odors but may even fail to discriminate the taste between food and drinks. Sometimes, a neutral or pleasant odor may be interpreted as an unpleasant one.

Phantosmia

In this particular dysfunction, patients usually hallucinate about smells. Here, unlike Parosmia, smelling of odors is not triggered by any physical stimulus. Due to this reason, these are referred to as “Phantom Odors”.

Dysosmia Symptoms

There are two major symptoms related to the impairment of smell.

Picture 1 - Dysosmia

Loss of olfactory function

Individuals suffering from this disorder cannot smell any odor in the environment. The sense of taste largely depends on the olfactory sense. Naturally, patients of this condition generally complain of a loss of taste sensation which is termed as “Ageusia”.

Distortion of olfactory function

Odors that are normally pleasant may smell odd or distorted. Natural odor is sensed as an unpleasant odor resembling that of a burned, rotting, fecal or chemical smell.

Dysosmia Causes

Dysosmia has a wide range of causes which can be classified on the basis of the different types of the condition.

Anosmia

Acute Anosmia is caused by blockage of the nose or infection of the nasal sinuses and nasal polyps. Prolonged use of medications, such as antihistamines and decongestants, often lead to nasal blockage. Structural defects, which include abnormal thinning or thickening of the mucus membrane inside the nose, may also lead to alteration of the sense of smell. On the other hand, the chronic form may occur due to complete damage of olfactory receptors neurons in the nose or injury in the brain that damages the olfactory nerve or some areas of the olfactory system. Due to this, there is a permanent loss of smell. Certain types of nasal spray, that cause vasoconstriction of the nasal chambers, may be responsible for causing damage to the olfactory receptor neurons. Degenerative brain disorders like Parkinson’s disease and Alzheimer’s disease are often characterized by this disorder.

Parosmia

Upper respiratory tract infections can cause damage to olfactory receptor neurons. Exposure to toxic substances like lead and other harmful chemicals, as well as to radiation can cause olfactory loss. This leads to an inability to transmit signals that represent a specific odor to the olfactory bulb. It is the olfactory bulb that processes information about odors. The condition may also arise if head traumas cause physical damage to the inferior side of the brain, where the olfactory bulb.

Phantosmia

Epileptic seizures and disorders associated to the stem cells of the brain may stimulate the olfactory bulb, occasionally even in the absence of any external stimulus or trigger. It is defined as an olfactory hallucination which may result from neurological disorders like Alzheimer’s disease and Schizophrenia.

Dysosmia Diagnosis

The initial diagnosis of this ailment involves a detailed elicitation of history. Physicians follow this up by asking questions to the patients to know about any prior upper respiratory infections or head injury.

Picture 2 - Dysosmia Image

Some of the main diagnostic techniques used in detecting this syndrome include:

University of Pennsylvania Smell Identification Test(UPSIT)

It involves use of four self-administered test booklets, each containing ten stimuli, for triggering smell. Patients pick one of the four booklets and are asked to detect all the types of odor. This method provides a rapid and easy way to quantify olfactory functioning and diagnose sinusitis as well as upper respiratory infection.

Sniffin sticks

It is useful in diagnosing Parosmia and Anosmia. It comprises of three tests of olfactory function, that include

• Odor Threshold Test
• Odor Discrimination Test
• Odor Identification Test

These medical examinations help physicians measure graded stimulus and observe the response of patients. Peppermint sniffin stick is one kind of test where peppermint is placed in front of a patient’s nose. Some patients have reported of a foul or rotten smell in this test. Alcohol sniff test is another form of olfactory examination where patients are made to smell a material soaked in Isopropyl Alcohol.

Sinus transillumination

In this procedure a beam of bright light is projected over the patient’s cheek or forehead in a dark room. If the sinuses are clear, a glow on the hard palate of the open mouth or in the areas of the cheek is observed.

Olfactory nerve testing

The function of the olfactory nerve is tested by blocking one of the nostrils and placing a pungent odor such as damp coffee essence under the open nostril. The test is repeated on the other nostril.

Nasal cytology

Nasal allergies like rhinitis can be diagnosed by this technique. Here, patients are asked to blow their nose on a piece of plastic wrap. The nasal discharge is then collected and sent for laboratory examination to detect the eosinophil (one type of white blood cells) count, which is primarily responsible for initiating allergy.

Other diagnostic techniques involve use of imaging tests like X-rays or CT scans. CT scan of the skull has now replaced the use of X-rays and is typically used to detect problems like:

• Bleeding within the brain
• Lesions
• Brain injury
• Hemorrhage
• Inflammation in the paranasal sinuses

Previously, X-rays of the skull are generally performed to evaluate the fractures of the bone of the skull and detecting other conditions of the brain.

Dysosmia Treatment

There are very few treatment options for this particular condition. Although treatment can restore the olfactory sense in some cases, the rate of recovery may actually vary depending on the type of olfactory dysfunction that a person is suffering from.

Treatment includes topical medications, systemic medications, and application of anesthesia to parts of the nose. In rare cases, endoscopic transnasal excision of olfactory epithelium is performed to treat phantosmia that may restore the olfactory function. Various experiments have been performed to treat parosmia with L-Dopa but with minimal success.

Dysosmia Prevention

The prevention of this condition involves:

Avoiding head trauma

Certain precautions, such as wearing helmet, should be taken while playing outdoor games and driving a motorbike in order to reduce the risk of head injuries that might lead to Dysosmia.

Avoiding infectons

Smoking and drinking should be strictly avoided as they might harm the delicate mucus membrane of the nose and make it susceptible to infections. People, who are allergic to particulate matter in air such as pollen or dander, should be extra-careful to avoid direct contact with these substances.

In most cases, Dysosmia is not a sign of a more serious health issue. Early diagnosis and cure may provide patients with faster relief from the symptoms of this disorder without any side effects.

References:

http://chemse.oxfordjournals.org/content/27/7/611.full

http://www.home-remedies-for-you.com/blog/dysosmia-causes-and-treatment.html

http://www.wisegeek.com/what-is-dysosmia.htm

http://health.msn.com/health-topics/ears-nose-throat/causes-of-an-altered-sense-of-smell