Down syndrome is a hereditary disarray that causes mental retardation and other illness. It is a mixture of physical abnormalities and psychological retardation which has a genetic defect in chromosome pair 21. It is called so because of the British doctor John Langdon Down, who first explored it in 1866. The condition fluctuates in severity, so struggle for development may vary from mild to serious. Around 1 in 800 to 1 in 1,000 babies are born with this chaos. Life expectancy among adults with Down syndrome is about 55 years approximately.

 There are 23 chromosomes in egg and sperm cells of human. The rest of cells usually contain 23 pairs of chromosomes — one from  father and one from  mother. Kids with Down syndrome typically have 3 copies of chromosome 21 — known as trisomy 21 — in the place of two copies.

Human cells usually has 23 pairs of chromosomes. One chromosome in each pair comes from father, the other from mother. Down syndrome is caused by 3 types of abnormal cell division linking 21st chromosome. All 3 defects and its outcome is extra genetic material from chromosome 21, which causes Down syndrome. The 3 genetic variations are:

1. Trisomy 21: Above 90 % of Down syndrome are the result of trisomy 21. A infant with trisomy 21 has 3 copies of chromosome 21 — in the place of the typical 2 copies. is caused by irregular cell division while sperm or the egg cell develops.

2. Mosaic Down syndrome: It is a rare form, where infants have some cells with an extra copy of chromosome 21, but not all. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.

3. Translocation Down syndrome: It also occurs when part of chromosome 21 gets attached to a different chromosome, before or at conception.

Signs and Symptoms

Children with Down syndrome have a dissimilar facial look. Though all patients  do not have the same features, some general characteristics that can be listed are:

1. Flattened facial features

2. Protruding tongue

3. Small head

4. Upward slanting eyes, unusual for the child’s ethnic group

5. Unusually shaped ears

Children with Down syndrome may also have:

1. Poor muscle tone

2. Broad, short hands with a single crease in the palm

3. Relatively short fingers

4. Excessive flexibility

5. Baby born with this illness may be of normal size, but usually their development is slow and stay behind in growth compared to than other children of same age. They are also mental retarded to some extent, typically from mild to moderate

Is it inherited?

Most of the time it is not inherited. They’re caused by a error in cell division while egg, sperm or embryo development. The diagnosis is based on clinical appearance and genetic testing.

Screening tests during pregnancy
Diverse screening tests can aid in identifying the probability of developing Down syndrome. Conventionally, blood tests — such as quad screen or maternal serum alpha-fetoprotein (MSAFP) test — were advised around the 16th week of pregnancy

First-trimester screening is done in two parts:

Ultrasound: It is used to gauge a specific region on the back of a baby’s neck, called nuchal translucency screening test. Babies with certain abnormalities have a propensity of accumulating more fluid in this tissue than otherwise usual.

Blood tests: To measure the levels of pregnancy  associated plasma protein A (PAPP-A) and a hormone called as human chorionic gonadotropin (HCG).

Diagnostic tests for newborns

After birth, the primary diagnosis depends on the baby’s appearance. If child exhibit some or all of the features of illness, it is advised for chromosomal karyotype test. To analyse extra chromosome 21 present in all or some of the cells.

Complications

1. Heart defects: Roughly 50 % of Down syndrome children some type of heart defects are been found. It may be life-threatening and may need surgery at early childhood.

2. Infectious diseases: Due of defect in their immune system, they are more vulnerable to infectious illness. In particular, risk of pneumonia is much higher that others.

3. Dementia: Later in life, people with Down syndrome have a greatly increased risk of dementia. Signs and symptoms of dementia often appear before age 40 in people with Down syndrome.

4. Other problems. Down syndrome may also be connected with a multiple illness, including gastrointestinal blockage, thyroid problems, hearing loss or poor vision.

Treatment

Down syndrome cannot be cured medically. Yet, there is a medical aid for children with down syndrome at early interventions, starting in infancy.

Prevention

There’s no root to prevent Down syndrome. Indeed Down syndrome infected child can typically do most things that any young child can do, such as walking, talking, dressing and being toilet-trained. Nevertheless, they usually take more time to learn the same. At present, there are more prospects than earlier which includes schooling, jobs and social relationships.

Dr. C. Sharath Kumar
Director and Chief Fertility Surgeon
Mediwave I.V.F & Fertility Research Hospital
Mysore-570 021
Phone: 0821-2444441/3265002

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Excitement and pleasure.
Sexual activity (sexual function) in humans is an instinctive form of physical intimacy. It may be performed for the purposes of biological reproduction, expressing affection, and for pleasure and enjoyment. The desire to have sex is one of the basic drives of human behavior.

Sexual health also means understanding body and how it works. Women who understand their bodies can make better choices about the sexual activities that they enjoy.

 Frequency of sex in couples

As the age advances sexual activities decreases. Following is the frequency of couples can have sexual activity under ideal circumstances.

Teens – any time,

Twenties – daily,

Thirties – alternate days,

Forties – twice weekly,

Fifties – once weekly.

After sixties sexual activity decreases very much and becomes a rare event.

Factors affecting Women Sex

• Sexual health of male partner
• Sexual health of women

Sexual health of male partner

Any illness like heart attack, diabetes, hyper tension, accidents and other serious illness of male partner indirectly affects women sex.

Sexual health of women

Sexual health is very important for women to have better sex life. Both mental and physical health can contribute to have good sexual life. Illness, disability, or the drugs take to treat a health problem can affect ability to have and enjoy sex. Following are some of the diseases which affect women sexual health 

Arthritis

Joint pain due to arthritis, back pain, sciatica can make sexual contact uncomfortable. Joint replacement surgery and drugs may relieve this pain. Exercise, rest, warm baths, and changing the position or timing of sexual activity can be helpful.

Chronic pain

In addition to arthritis, pain that continues for more than a month or comes back on and off over time can be caused by other bone and muscle conditions, poor blood circulation, or blood vessel problems. These can interfere with intimacy between the partners.

 Diabetes

Women with diabetes have sexual problems. Some time it can lead to infertility also.

 Heart disease

Narrowing and hardening of the arteries known as atherosclerosis can change blood vessels so that blood does not flow freely. This can lead to trouble with sexual arousal in women.

Some people who have had a heart attack are afraid that having sex will cause another attack. The chance of this is very low. Most people can start having sex again 3 to 6 weeks after their condition becomes stable following an attack, if their doctor agrees.

 Incontinence

Loss of bladder control or leaking of urine is more common in women as age advances. Stress incontinence happens during exercise, coughing, sneezing, or lifting, for example. Because of the extra pressure on abdomen during sex, incontinence might cause some people to avoid sex. But it can be treated.

Stroke

The ability to have sex is rarely damaged by a stroke. It is unlikely that having sex will cause another stroke. Someone with weakness or paralysis caused by a stroke might try using different positions or medical devices to help them continue having sex.

White discharge (Leucorrhoea)

Leucorrhoea, refers to a whitish discharge from the female genitals. It is an abnormal disease condition of the reproductive organs of women. The condition may continue for weeks or months at a time. If not treated properly in the initial stages, it may become chronic. It can cause pain during intercourse, low back ache, vaginal itching, and burning sensation. All these may interfere with sexual activity.

Vaginitis

Vaginitis is described medically as an irritation and/or inflammation of the vagina. Vaginitis is a very common disease affecting millions of women each year. The three most common vaginal infections are bacterial vaginosis, candida vaginitis and trichomonas vaginitis.

Vaginitis may cause Pain/Irritation with Sexual Intercourse.

Pruritis

Pruritis is the medical word for itch. It is defined as a sensation that provokes the desire to scratch. Itching can be a significant source of frustration and discomfort. When severe, it can lead to loss of sleep, anxiety, depression and may lead to decreased libido.

Painful Sexual Intercourse (Dyspareunia)

Pain during or after sexual intercourse is known as dyspareunia. Although this problem can affect men, it is more common in women. Women with dyspareunia may have pain in the vagina, clitoris or labia. There are numerous causes of dyspareunia, many of which are treatable.

Causes

Common causes include the following:

• Vaginal dryness
• Atrophic vaginitis, a common condition causing thinning of the vaginal lining in postmenopausal women
• Side effects of drugs such as antihistamines and tamoxifen
• An allergic reaction to clothing, spermicides.
• Endometriosis, an often painful condition in which tissue from the uterine lining migrates and grows abnormally inside the pelvis.
• Inflammation of the area surrounding the vaginal opening,
• Urinary tract infections, vaginal yeast infections, or sexually transmitted diseases.

Fibroid Uterus

Uterine fibroids are tumors or growths, made up of muscle cells and other tissues that grow within the wall of the uterus (or womb). Although fibroids are sometimes called tumors, they are almost always benign (not cancerous). Fibroids can grow as a single growth or in clusters (or groups). Their size can vary from small, like an apple seed (or less than one inch), to even larger than a grapefruit, or eight inches across or more. Some time they can cause pain during sex.

Premenopausal Syndrome

Menopause is part of the normal life cycle of women. When a woman has passed through menopause, her monthly periods end, and she no longer can get pregnant naturally. It is usually occurs around age 50. During that time hormone levels can be higher and lower than normal. It can lead to Problems with dryness, itching, pain during sexual intercourse, or irritation of the tissues in and around the vagina;

Obesity

Being overweight increases the risk of many diseases and health conditions, including

Hypertension, High cholesterol, Coronary heart disease, Diabetes, Stroke, Gallbladder disease, Osteoarthritis, Asthma, etc. It can lead to infertility and decreases the libido.

Medications

Some drugs can cause sexual problems. These include some blood pressure medicines, antihistamines, antidepressants, tranquilizers, appetite suppressants, diabetes drugs, and some ulcer drugs like ranitidine. Some drugs can reduce a woman’s sexual desire. Taking some drugs can decrease the libido.

Surgery

Some surgeries like Mastectomy, Hysterectomy can decrease the sexual activity of women.

 Emotional aspects

Sexuality is often a delicate balance of emotional and physical issues. Emotional aspects of women like anxiety, depression, loneliness, family matters can contribute greater towards her sexual life. It may also lead to decrease in sexual desire ness in women.

 Treatment

If one seem to have a problem that affects sex life, talk to doctors. He or she can suggest a treatment depending on the type of problem and its cause. There is a lot can do to continue an active sex life.

• Follow a healthy lifestyle, do exercises regularly,
• Eat good food, drink plenty of fluids like water or juices,
• Quit smoking, and avoid alcohol.
• Try to reduce the stress in life.
• Consult doctor regularly and keep a positive outlook on life.

Conclusion

Each woman values different things in her sexual and intimate relationships and enjoys different sexual activities. Being aware of your values and desires can help you make decisions that are right for you. We all experience the physical and emotional elements of sex differently. Take some time to learn about your sexual self.

Dr. C. SHARATH KUMAR
M.B.B.S., M.S., Ph.D (Infertility), Director and Chief Fertility Surgeon
Mediwave I.V.F & Fertility Research Hospital, City X-Ray Complex, Sayyaji Rao Road
Mysore-570 001 Phone: 0821-2444441, 4255019

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An environment is a complex of surrounding circumstances, conditions, or influences in which a thing is situated or is developed, or in which a person or organism lives, modifying and determining its life or character. The natural environment is such an environment that is relatively unaffected by human activity. Soil, Sky, Heat (Sun), Air and Water (Panchaboothas); they together made an environment that is fit for our existence.

Environment motivates to react:  We are miserable when are in desert and delighted when we are in lush garden. In a hospital we are in different mood and in disco different. Environment motivates us to change our mood and reaction is in accordance.

Pollution:

Pollution is the release of environmental contaminants. The act or process of polluting or the state of being polluted, especially the contamination of soil, water, or the atmosphere by the discharge of harmful substances.

1. Soil pollution

Soil pollution is defined as the build-up in soils of persistent toxic compounds, chemicals, salts, radioactive materials, or disease causing agents, which have adverse effects on plant growth and animal health.

2. Water pollution:

Water pollution occurs when undesirable foreign substances are introduced into natural water. The substances may be chemical or biological in nature. Common pollutants include human or animal waste; disease-producing organisms; radioactive materials; toxic metals such as lead or mercury; agricultural chemicals such as pesticides, herbicides, or fertilizers; acid rain, Industrial discharge of chemical wastes and byproducts, Discharge of poorly-treated or untreated sewage, petroleum products, and high-temperature water discharged from power plants, often called “thermal pollution.”  Pollutants in water are dangerous for human or animal consumption and harm crops.

3. Air pollution

Air pollution is the presence of any chemical, physical (e.g. particulate matter), or biological agent that modifies the natural characteristics of the atmosphere. The atmosphere is a complex, dynamic natural gaseous system that is essential to support life on planet earth.

Air pollution is composed of many environmental factors. They include carbon monoxide, nitrates, sulfur dioxide, ozone, lead, secondhand tobacco smoke and particulate matter. Factory emissions, vehicle emissions cause air pollution.

4. Noise Pollution

Any unwanted man-made sound that penetrates the environment is noise pollution. In general noise pollution refers to any noise irritating to one’s ear which comes from an external source.

 Noise pollution can be caused by many sources including highways, vehicles, factories, concerts, air-conditioners, engines, machine, aircraft, helicopters, alarms, public address systems, industrial development and construction work.

Effect of Pollution on Health:

1. Pollutants can cause disease, including cancer, lupus, immune diseases, allergies, and asthma.

2. Adverse air quality can kill many organisms including humans. Worldwide air pollution is responsible for large numbers of deaths and cases of respiratory disease.

3. Ozone pollution can cause respiratory disease, cardiovascular disease, throat inflammation, chest pain and congestion.

4. Water-borne diseases are infectious diseases spread primarily through contaminated water. Water pollution causes approximately 14,000 deaths per day, mostly due to contamination of drinking water by untreated sewage in developing countries. Cholera, Hepatitis, Dysentery and Typhoid are the more common water-borne diseases.

5. Oil spills can cause skin irritations and rashes.

6. Noise pollution can cause hearing loss, high blood pressure, stress, sleep disturbance, and High noise levels can contribute to cardiovascular effects.

Pollution and Fertility:

Environmental factors contribute to the severity of infertility, and that this may worsen the effects of pre-existing genetic or medical risk factors. Stress and environmental pollution are two of the main causes of growing infertility among urban couples.

Worldwide, one in every six couples has difficulty in conceiving. About 50 percent of the infertility problems are contributed by the male factor. But stress and environmental pollution are considered two key factors for childlessness among couples now.

An increasing number of reports suggest that chemical and physical agents in the environment, introduced and spread by human activity may affect fertility in humans. Stress and environmental pollution reduce the sperm count in males. While a couple is considered infertile if after one year of adequate unprotected intercourse the woman fails to conceive, the problem in our society becomes more social.

There are fears that industrial and agricultural chemicals and heavy metal pollutants are disrupting the reproductive biology animals and may also be affecting human fertility and fetal development.

Steps to taken to control Environment Pollution:

1. Encourage Afforestation: Afforestation is the process of converting open land into a forest by planting trees or their seeds.

2. Stop Deforestation: Deforestation results from removal of trees without sufficient reforestation; however, even with reforestation, significant biodiversity loss may occur.

3. Practice proper Waste management: is the collection, transport, processing (waste treatment), recycling or disposal of waste materials, usually ones produced by human activity, in an effort to reduce their effect on human health.

4. Proper management (Proper disposable) of Industrial wastes, chemicals, sewage, Pesticides & Fungicides, Poisonous chemicals should be done before disposed them into environment reservoirs.

5. Hospital wastes, syringes, needles etc should be properly treated before disposed. Syringes and needles tips should be cut down before disposed them into garbage so that one cannot reuse those materials.

6. Emission test to each vehicles should be done frequently.

Environmental Education:

Environmental education is a learning process that increases people’s knowledge and awareness about the environment and associated challenges, develops the necessary skills and expertise to address the challenges, and fosters attitudes, motivations, and commitments to make informed decisions and take responsible action

Since the industrial revolution many countries have experienced centuries of deforestation, and governments and Non-governmental organisations (NGO’s) should take up the programs of reafforestation (the restocking of existing forests and woodlands which have been depleted, with native tree stock) and also in supporting private and semi-private enterprise in programs of afforestation.

It is the duty of every one of us to preserve our environment in the best interest of our own health. It is also our duty to hand over a better environment to a next generation.

Dr. C. SHARATH KUMAR

 Director and Chief Fertility Surgeon

Mediwave I.V.F & Fertility Research Hospital, City X-Ray Complex, Sayyaji Rao Road

Mysore-570 001     Phone: 0821-2444441, 4255019

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