Posts tagged: genetics

DIABETES MELLITUS

what is it ????

Refers to diabetes mellitus or, less often, to diabetes insipidus. Diabetes mellitus and diabetes insipidus share the name “diabetes” because they are both conditions characterized by excessive urination (polyuria).

The word “diabetes” is borrowed from the Greek word meaning “a siphon.” The 2nd-century A.D. Greek physician, Aretus the Cappadocian, named the condition “diabetes.” He explained that patients with it had polyuria and “passed water like a siphon.”

When “diabetes” is used alone, it refers to diabetes mellitus. The two main types of diabetes mellitus — insulin-requiring type 1 diabetes and adult-onset type 2 diabetes — are distinct and different diseases in themselves.

What are the Types ???

1.  Type I

2. Type II

3. Gestational Diabetes Mellitus

4. Others

Type I ????

It is also called Insulin Dependent Diabetes (IDDM) or Juvenile Diabetes.

Although, it may occur at any age, but it usually develops in childhood or adolescence, before the age of 25. Equal incidences are seen in both sexes. But there are increased incidences in white population. This type of diabetes accounts for 10-15% of all cases of Diabetes mellitus. This type of Diabetes is acute in onset and progresses rapidly.

Type 1 Diabetes is caused by complete deficiency of Insulin resulting from Beta cell destruction. It can be explained on the basis of three basic factors:

(i) Genetic susceptibility:

  • A family history of Type 1 Diabetes mellitus is often found.
  • Moreover, it has been seen in identical turns, that if one twin has Type 1 diabetes, there is 50% chance of the second twin developing diabetes.
  • Majority of the cases of Type 1 diabetes has been seen in individuals with HLA-D Phenotypes (HLA-DR3 and HLA-DR4).

(ii) Auto Immunity:

  • The islet cell antibodies, sometimes instead of providing immunity to the pancreas, acts against it and destroys the insulin producing Beta cells of Pancreas. Thereby leading to raised glucose level and thus diabetes mellitus.
  • There may be Insulitis i.e. infiltration of lymphocytes around the Pancreatic islets further leading to loss of most of the Beta Cells.
  • Type 1 Diabetes may also be associated with other autoimmune diseases such as Hashimoto’s thyroiditis. Addison’s disease as pernicious anaemia.

(iii) Environmental Factors:

It may be:

  • Viral infections such as –congenital Rubella, Mumps, Measles and coxsackie B virus may lead to the onset of Type 1 Diabetes.
  • Exposure to cow’s milk rather then material milk in infancy may lead to development of type 1 DM. It is because the albumin from cow’s milk may react with islet cells of pancreas, leading to their destruction.
  • Geography also plays an important role, as the incidences of Type 1 DM are mainly high in Finland and Sardinia

Type II??

This type of Diabetes is also known as Adult onset Diabetes. Non-insulin dependent Diabetes Mellitus (NIDDM), Maturity onset diabetes.

It is more common and constituents 80-90% of all cases of diabetes. It usually occurs in adults over 40 years of age. But now a day few cases are observed in teen years also. Many people with Type 2 diabetes do not known they have it, although it is a serious condition. Generally, when the diagnosis is made, patient is asymptomatic. Routine urine or blood test shows the presence of high glucose levels in the blood or urine. The onset of symptoms in type 2 are slow and does not progresses rapidly.

The main cause of Type 2 Diabetes mellitus is insufficient Insulin secretion by Beta Cells due to their destruction. Due to lack of insulin, there is raised blood sugar level and finally diabetes” type 2 diabetes mellitus also occur due to development of Insulin Resistance where the cells of the body mainly fat and muscle cells does not accept the insulin. The liver of such patients also produces glucose through a process called gluconeogenesis, which further worsens the controlling of glucose level.

Type 2 diabetes is more prevalent because of faulty eating habit, increasing obesity end failure to exercise. There is a direct relationship between the degree of obesity and the risk of developing type 2 diabetes. The chance to become 2 diabetes doubles for every 20% increase form normal body weight. Heredity and Genetic factors play a major role in development of Type-2 Diabetes.

In Europe and North America about 80% of all diabetes have Type-2 Diabetes have Type 2 Diabetes mellitus.

Gestational Diabetes Mellitus (GBM)

Gestational diabetes mellitus (GDM) is defined as any degree of glucose intolerance, with the onset of pregnancy. Women who develop Type –1 diabetes mellitus during pregnancy and women with undiagnosed a symptomatic type –2 diabetes mellitus that is discovered Gestational Diabetes Mellitus. Women with diabetes mellitus before pregnancy are said to have “Pregestational Diabetes”. Many women who have developed gestational diabetes may have controlled glucose level during the first half of the pregnancy and develop insulin

deficiency during the latter half of the pregnancy, leading to hyper-glycaemia.

Gestational Diabetes Mellitus is a complication in approximately 4% of all pregnancies in the United States. Mother with Gestational diabetes mellitus have increased rate of caesarian delivery and chronic hypertension “High blood Glucose levels in early pregnancy may deprive the embryo of oxygen and lead to Birth Defects, especially of the heart and spinal cord. Maintaining blood glucose control continues to be important throughout the pregnancy, but it is particularly important during the first eight weeks, when an embryo’s organs are farming.

To diagnose GDM, a 50 gm glucose-screening test should be performed at 24-28 weeks of gestation known as Glucose Tolerance Test (GTT). By them, the placenta begins to make the hormones that lead to insulin resistance. The screening test measures the blood sugar response to glucose consumed in a drink. Untreated gestational diabetes can lead to problems for both the mother and the child. It can lead to Fat baby syndrome or Microsomatia, in which the baby’s body produces extra fat.

Others ???

Diabetes mellitus of various known reasons is included in this type. It includes:

  • Diabetes may develop in persons with genetic defects such as Down Syndrome, Klinefelter’s syndrome, Turner’s Syndrome, etc.
  • Persons with endocrinopathies such as Acromegaly, Cushing’s syndrome, Hyperthyroidism, may develop diabetes.
  • Persons with pancreatic dysfunction caused by drugs like Phenytoin, Nicotinic acid, Diaz oxide, may also develop diabetes.
  • Malnutrition may also lead to diabetes and it is common in young malnourished individuals in developing countries.

It is also seen during natal and early childhood.

Treatment ???

Controlling your blood sugar is essential to feeling healthy and avoiding long-term complications of diabetes. Some people are able to control their blood sugar with diet and exercise alone. Others may need to use insulin or other medications in addition to lifestyle changes. In either case, monitoring your blood sugar is a key part of your treatment program.

A healthy diet and exercise should be placed as a priority for diabetes treatment.  Second, you might also try some of the diabetes treatment using alternative medicine.  Third, follow your doctor’s prescriptions.  And last, pancreas or islet cell transplantation may be an option for people whose kidneys are failing or who aren’t responding to other treatments.

1. Monitoring Blood Sugar

a. Food

b. Exercise and Physical activity

c. Medications

d. Illness

e. Alcohol

f. Hormonal Imbalance

2.  Healthy Diet

3.  Healthy Weight

4. Medications

a. Sulphonylurea Drugs

b. Meglitinide

c. Biguanides

d. Apha Glycosidase inhibitors

e. Thiozolidinediones

5. Pancreas transplant

Other Treatment Available !!!

1. Accupunture

2. Biofeedback

3. Chromium

4. Magnesium

5. Vanadium

Psoriasis

450px-Psoriasis_on_back

What is Psoriasis?

Psoriasis is a dry, scaly skin disorder. Doctors believe that it is genetic and is caused by the immune system being mistakenly “triggered”, resulting in skin cells being produced too quickly. Normally, skin cells take about 21-28 days to replace themselves. However, in patients with psoriasis they take around 2-6 days. Psoriasis affects approximately 3% of people globally and usually develops in patients between age 11 and age 45. Despite the fact that it is not a contagious disorder, people with the condition can sometimes suffer from social exclusion and discrimination.

Risk Factors ?????

Gender – Male

Age – mostly from 10 – 20 years

An estimated 6.4 million Americans (about 2.5% of the population) have psoriasis, and it affects between 0.5 – 3% of the world’s population.

Family History

About 35% of those with psoriasis have one or more family members with the disorder. One study reported that the lifetime risk for psoriasis is 4% in someone with no afflicted family members, 28% with one affected parent, and 68% with both parents affected by psoriasis.

Climate

Climate plays a role in risk. Some studies have found that the disorder develops earlier and more frequently in colder climates. For example, psoriasis occurs more frequently in African Americans and in Caucasians who live in colder climates than in people of any ethnicity who live in Africa. Psoriasis is also common in Japanese individuals. It is uncommon in Native Americans of either North or South American descent.

Causes???????

The exact cause of psoriasis is unknown, but it is believed that a combination of several factors contributes to the development of this disease.

1)Genetic Causes

Researchers have found 9 gene mutations that may be involved in causing psoriasis. One of these mutations on chromosome 6, called PSORS-1, appears to be a major factor that can lead to psoriasis. Mutations on genes cause certain cells to function differently. With psoriasis, these mutations seem to largely affect T-helper cells.

2)Immune System Causes of Psoriasis

In a normally functioning immune system, white blood cells produce antibodies to foreign invaders such as bacteria and viruses. These white blood cells also produce chemicals that aid in healing and fighting infective agents. But with psoriasis, special white blood cells called T-cells become overactive. These T-cells “attack” the skin and set off a cascade of events that make the skin cells multiply so fast they start to stack up on the surface of the skin. Normal skin cells form, mature, then are sloughed off every 30 days. But in plaque psoriasis the skin goes through this whole process in 3-6 days.

3)Environmental Causes of Psoriasis

Not everyone who has these gene mutations gets psoriasis and there are several forms of psoriasis that people can develop. Certain environmental triggers play a role in causing psoriasis in people who have these gene mutations. Learn more about other psoriasis triggers.

Diagnosis?????

Physical examination —Your doctor will begin by carefully examining your skin, scalp, fingernails, and toenails for reddening or scaling skin that is characteristic of psoriasis. Small pits on the fingernails are also signs of psoriasis. Your doctor will also examine your joints for signs of psoriatic arthritis.

Skin biopsy —To confirm the diagnosis, your doctor may also take a small sample of skin (a biopsy) to test for psoriasis.

Severity of Psoriasis??????

Mild psoriasis —If the psoriasis covers less than 2% of your body, it is considered mild. Usually, people with mild cases develop isolated patches of psoriasis on the knees, elbows, scalp, hands, and feet.

Moderate psoriasis —If the psoriasis covers 2% to 10% of your body, it is considered a moderate case. Psoriasis may appear on the arms, legs, torso, scalp, and other areas.

Severe psoriasis —When psoriasis covers more than 10% of your body, it is considered severe. Large areas of skin may be covered with psoriasis plaques or pustules, or widespread erythrodermic psoriasis can cause severe peeling of the skin. People with severe psoriasis are more likely to develop psoriatic arthritis.

Treatment ????

There is no cure for psoriasis at this time, but there are various treatments that can, in most cases, temporarily clear the skin of psoriasis. Occasionally, psoriasis will go into spontaneous remission without treatment.

Topical Therapy (usually used to treat mild to moderate psoriasis):

  • Emollients (moisturizers) help soften scales and reduce discomfort
  • Steroid creams and ointments help reduce inflammation. They range in strength from very potent to mild. (See below)
  • Tazarotene (Tazorac) is a topical retinoid for treating mild to moderate plaque psoriasis
  • Anthralin or other coal tar preparations help to slow skin cell reproduction
  • Vitamin D3 or calcipotriene (brand name Dovonex)
  • Bath solutions, such as mineral salts or oatmeal additives, assist in soothing skin and encouraging healing
  • Phototherapy (used alone or in combination with other therapies to treat moderate to severe psoriasis):

  • Ultraviolet Light B (UVB), either outdoors or from a light box in a physician’s office, helps to heal lesions.
  • Psoralen and Ultraviolet Light A (PUVA) – involves the combined use of a photosensitizing medication, called psoralen and a long-wave ultraviolet light (UVA).
  • Excimer lasers may be used to treat a small, localized area of psoriasis. They are a way to deliver UVB light directly to the psoriasis without exposing normal skin.
  • Medications

  • Methotrexate (MTX) helps to slow down cell reproduction and decrease inflammation.
  • Retinoid Therapy, including acitretin (Soriatane), helps to reduce inflammation.
  • Cyclosporin A slows the immune system overall and may help decrease the inflammation of psoriasis.
  • What Qns to ask ur Doctor????????

    What form of psoriasis is this?

    How severe is the psoriasis?

    Can it increase in severity or spread?

    What are the chances that another rheumatic disease may develop?

    What type of treatment will you be recommending?

    What measures can be taken to help prevent reoccurrence?

    If over-the-counter lotions are recommended, which ones seem to be most effective?

    If a biopsy is recommended, what will the result tell you?

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