Syndrome, Causes, Treatment & Statistics

Syndrome


Meaning: It is a set of mental signs and symptoms which are correlated with each other and often associated with a particular disease or disorder, when syndrome paired with a particular disease or disorder.

DOWN SYNDROME

It is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body form and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes.

This syndrome was found by Dr. John Langdon Down a British doctor in 1816, he describes it so it is called down syndrome, earlier also called mongolism.

This syndrome can easily found from other people and children through their behavior, it is also called Trisomy 21. The normal baby born with 46 chromosomes (23 pairs), but through this syndrome baby born with 47 chromosomes, it is a genetic disorder and a lifelong condition, it has not fully treatment.


Symptoms:

The symptoms can be physically or mentally:

# Problems in hearing

# Ear’s infection

# Eyes related problems

# Heart disease, thyroid and intestines related problems from birth in which operation can be needed.

# Also have anemia and leukemia # Different effect on different persons.

The person and children who have much problems and most have less problems, who has less problems can live a normal life, if lifestyle is healthy than can live up to 50-60 years. If person has much problems then the person or children need support for whole life and some need has less support.

Common Physical Features:

# Broad and small hands

# Nose and face is flat

# Eye is tilted upwards

# Sleep difficulties

# Get problem in thinking, reasoning and understanding

# Slow development.

It is a lifelong condition  so early intervention is mark important, through treatment and therapy quality of life of children can increase.

Types:

# Trisomy 21: extra copy of a chromosome most common occurs when a developing baby has 3 copies of chromosome 21 in every cell instead of 2 copies, this type syndrome occurs in 95% cases.

# Translocation:  In this type extra full or partial amount of chromosome 21 attached to another chromosomes, this type syndrome occurs in 4% cases.

# Mosaicism: This is a rarest case only found in 1%, in this syndrome some cells contain 26 chromosomes and some contain 47 chromosomes. The extra chromosome in these cases is chromosome 21.

Treatment:

Treatment based on each  individual’s physical & intellectual  needs as well as personal strengths & limitations.

# Child need physical, occupational & speech therapy help for development.

#Medical specialist depend on need of person (cardiologist, endocrinologist, hearing & eye specialist)

# Physical therapists help to strengthen their muscles and improvements for skills.

# Behavioral therapists help to manage emotional challenges.

Statistics:

# Higher chance if mother is older than 35 years.

# Before of age 30 down syndrome occurs in 1 in 1000 pregnancies.

# After the age of 40, this figure rise to about 12 in 1000 pregnancies

# In U.S. 6000 baby born through this condition, it means 1 in 700 babies.

# In U.K. 40000 people approx.

# In India approx. 23,000-29,000 children has down syndrome every year.

METABOLLIC SYNDROME

It is the medical term for a combination of diabetes, high B.P.(hypertension) & obesity. It put you at greater risk of getting coronary heart disease, stroke & other conditions that affect the blood vessels.

How do we know person has Metabollic Syndrome:

The 3 out of 5 conditions fulfill:

Condition-1: Waist circumference for abdominal obesity:

In this condition the waist circumference is equal or greater than 102cm (40.15 inches) in men & equal or greater than 88cm (34.64 inches) in women.

Condition-2: Fasting blood Triglycerides

In this condition Triglycerides are fat like substance in the blood if you have triglycerides are higher than 150 mg  per deciliter or  150mg/dl

Condition-3: Cholesterol level

HDL (High Density Lipoprotein) is good cholesterol higher HDL levels lower your risk of heart attack & other health problems. Low HDL is 40mg/dl in men & 50mg/dl in women.

Condition-4: B.P. (Blood Pressure)

In this condition the B.P. is equal or more than 130 over 85 millimeter of Mercury or ≥130/85 mm Hg.

Condition-5: Fasting Plasma Glucose (F.P.G.) equal or more than 100mg/dl

All cell need sugar to work normally, sugar gets into the cells with the help of hormone called insulin of there is not enough insulin or if body stops responding to insulin sugar builds up  in the blood if your blood sugar  ≥100mg/dl when tested after you have not had anything to eat or drink for 8 hours you get another point of metabolic syndrome.

Why is it important?

It is a group of risk factors that raises the risk of heart diseases, diabetes, stock & other health problems & it makes frequently serious & long-term complications.

Problems:

# Diabetes

# Heart Attack

# Stroke

# Cardiovascular disease

# Hardening of the arteries

# Peripheral Artery Disease

# Non-alcoholic fatty liver disease

Prevention:

# lose weight if you are overweight.  

# Eat fruits & vegetables & low-fat dairy products.

# Walking or doing some form of physical activity on most days of the work, & in general being as physically active as possible as. 

# Quitting smoke, if you smoke.

Treatment:


((A)) Diet: healthy diet that can help you to lose weight.

The Mediterranean Diet: this diet high in fruits, vegetables, nuts, whole grains & olive oil. It can help to decrease your weight, B.P, blood sugar & improve lipid levels.

The DASH (Dietary Approaches to Stop Hypertension) diet: this diet is low in salt & fat. It includes 4-5 serving each of fruits & vegetables & serving low-fat dairy products per day. This diet can help you to low you B.P., weight & Blood sugar & it improves lipid levels.

High-fiber diet: Increase dietary fiber in your diet at least 30grams daily.

Increase dietary fiber (to at least 30 grams daily) can low the B.P. & weight. Fiber is normally found in beans, grains, vegetables & fruits.

 Types.    %Fiber.        Amt. Of fiber per 16g

Barley.        17.30%.                2.8g

Rice.           3.5%.                    0.6g

Wheat.        12%.                     2g

Millet;          8.50%.                  1.4g

African millet. 6.30%.              1g

Oats.               10.60%.              1.7g

Rye.                 15.10%.              2.4g

 The nutrition label on packaged foods can show you how much fiber you are getting in each serving.

((B)) Exercise:

Doctors recommend those people exercise at least 30 min. every day & 5 or more days of the week.

If you cannot exercise for 30 minute at a time try to exercise for 10 min. at a time, 3 or 4 times a day.

Brisk walking is good choice.

((C)) Medicines:

Doctors often recommend medicines to lower BP, Blood lipids, & blood sugar.

Statistics:

# 1 in 3 older adults aged 50 or over in U.K.

# Approx. 1/4th of the adult population is estimated to have this syndrome, with a similar prevalence in Latin America.

# In U.S. 1/3rd adults have this syndrome.

# In India from this syndrome females are 35% & males are 26%.

NEPHROTIC SYNDROME

It is the condition that causes the kidneys to leak large amount of protein into the urine. This can lead range of problems including swelling of body tissues & a greater chance of catching infections.

Types:

1.       Congenital Nephrotic Syndrome:

This is rare but serious & fatal case, & this is from birth. It has less recovery rate. It is an inherited disorder characterized by protein in the urine & swelling of the body, occurs primarily in families of finish origin & develops shortly after birth. This commonly results in infection, malnutrition & kidney failure.

2.      Primary or Idiopathic Nephrotic Syndrome:

The Idiopathic Nephrotic Syndrome also known as nephrosis. This is most common syndrome in children. it is associated with glomerular diseases intrinsic to the kidney & not related to systemic causes.

3.      Secondary Nephrotic Syndrome:

This syndrome occurs due to other associated medical or external condition. Example:- Mellitus Diabetes, Hypertension, HIV Aids & Drug Toxicity.

Symptoms:

# Severe swelling (edema), particularly around your eyes, ankles & feet.

# Foamy urine, a sign of urine which is not normal.

# Weight gain due to fluid retention.

# Loss of appetite

Treatment:

# B.P. Medications

# Water Pills (diuretics)

 # Cholesterol-reducing medications

# Blood thinners (anticoagulants)

# Foods Avoid: Cheese, high-sodium, processed meats (SPAM, Vienna, Sausage, Bologna, hot dogs), frozen dinners, fish, dried or canned soups & pickles. 

Statistics:


# 2-7 case per 1,00,000 children younger than 16 years.

# The cumulative prevalence rate is approx. 16 cases per 1,00,000 individuals.

# 90-100 per million population of India.

GILBERT SYNDROME

Other name of Gilbert Syndrome is Hyperbilirubinemia. It is liver related problem, it is an inherited condition cohere the liver is unable to process a substance called bilirubin properly, through that level of bilirubin increase.


Bilirubin : it is a yellowish pigment that is made during the normal breakdown of red blood cells. It passes through the liver & externally excreted out of the body. Higher than the normal levels of bilirubin may indicate different types of liver or bile duct problems.

Symptoms:

# Increase the level of bilirubin

# Skin whites of the eyes turn yellow [caused by build-up bilirubin in the blood]

# Tummy (abdominal) pain

# Feeling very tired (fatigue)

# Loss of appetite

# Feeling sick

# Irritable bowel syndrome: a common digestive disorder that causes stomach cramps, diarrhea & constipation.

How doctor indentify?

# Physical examination (eyes & skin color)

# C.B.C. [Complete Blood Count Test]

# Liver Function Test

# HBs Ag [Hepatitis B Surface Antigen]

 # Abdominal Ultrasound # Kidney Function Test (K.F.T.)

Treatment:

Gilbert’s syndrome does not require treatment. The bilirubin levels in your blood may fluctuate over time, & you may occasionally have jaundice, which usually resolves on its own with no ill effects.

Statistics:


# 3%-7% Americans has Gilbert Syndrome

# In India, this syndrome affects 2%-7% of the total population.

# Approx. 3%-7% of individuals in the general population.

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Disorder : its type, criteria, treatment,....

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