Genetic counselling and testing should be given a serious push in the country

Health Care, Heart Care Foundation of India, Medicine Comments Off

This practice can help save many children from dying and prevent birth defects

New Delhi, 16 July 2018: Hundreds of children are born with birth defects every day in India, which lead to disability and death. Genetic disorders are a very serious health issue in our country. There is an urgent need to work towards making available informed choices to parents to reduce the number of children being born with disability.

In genetic counselling, unlike psychological counselling, parents and their families are informed about inheritance pattern and the risk of their recurrence. It guides the parents through testing and management options. Genetic counsellors not only offer support and guidance to parents but also become a bridge between the patient and the doctor.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “A genetic testing is a must in cases where: either partner has a hereditary disorder, there is a history of genetic disorder in the family, a history of multiple pregnancy losses, or there are congenital anomalies detected in children. Many women are opting for delayed pregnancies and lifestyles, and with the prevalence of consanguinity in certain parts of the country, there is an elevated risk of children being born with genetic disorders in India. India is country where matching horoscopes before marriage is accorded a lot of importance. However, it is time that pre-nuptial genetic screening or testing and counselling is also made mandatory as it will help avert many issues later during pregnancy and childbirth.”

As per data from Unicef-India, every year about 1.34 million children die under five years and, of these, approximately 10% are believed to be due to congenital malformations. Among those born with congenital malformations, more than half are due to defects in single genes while >10% are because of chromosomal abnormalities.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “Prenatal Genetic Testing, which is primarily non-invasive, helps in identifying three types of trisomies: Trisomy 21 is the anomaly behind Down’s Syndrome; Trisomy 13, which leads to Patau Syndrome; and Trisomy 18, which causes Edward Syndrome. With the alarming number of children being born with genetic abnormalities, it is about time that India embraces NGS routine genetic testing. It is a comprehensive test and can detect all types of genetic mutations and is accurate, fast and cost-effective at the same time.”

Some tips from HCFI

  • Be aware of the products you use in your home and on your skin.  For example, cleaning products with harsh chemicals.
  • Eat healthy and include lots of fresh fruits and vegetables in your diet. They contain fibre and substances that can help in flushing toxins out of your system.
  • Take steps to combat stress as this lowers your immune system function.  Exercise, sleep well, and meditate. You can also opt for yoga to get rid of stress.
  • Sleep well as it reduces cortisol produced by the body during stress.  It also balances leptin, which determines how much food we eat.  If our leptin is off balance, most likely the body will feel that it never gets enough food, which leads to overeating.
  • Reduce or quit smoking and drinking.

Thyroid disorders can be hereditary and affect many Indians today

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Autoimmune disorders are more common in women than men

New Delhi,15 July 2018: Nearly every third Indian suffers from some thyroid disorder, which most often causes weight gain and hormonal imbalances, and is more commonly seen in women, as per a study. Sub -clinical hypothyroidism, a milder form of hypothyroidism where the diagnosis is made unexpectedly, is the most prevalent form of thyroid disorder across the country with maximum cases being present in the eastern
part of the country.

Thyroid disorders are eight to ten times more common in women than in men. This is mainly because most of the times, they are autoimmune problems are all autoimmune disorders are more common in women.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “The thyroid hormones are essential for normal functioning of organs. Any imbalance in these can lead to a deterioration in the quality of life. There are two kinds of thyroid disorders predominantly: hyperthyroidism which can further cause atrial fibrillation, osteoporosis and fractures; and hypothyroidism which can cause Myxedema coma and death. The most common cause of thyroid problems today is Autoimmune Thyroid Disease (AITD). This is a hereditary condition where the immune system produces antibodies which either stimulate the thyroid glands to overproduce hormones or leads to
destruction of glands that can cause underproduction of thyroid hormones.”

Symptoms of hyperthyroidism include weight loss, heat intolerance, poor sleep, thirst, excessive sweating, hand tremors, frequent bowel movements, racing of heart, weakness, anxiety, and insomnia. In hypothyroidism, an individual experiences weight gain on the face, lethargy, fatigue, constipation, slow heart rate, sensitivity to cold, dry skin, dull hair,
irregular periods, and infertility.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “A CT scan or ultrasound can detect thyroid nodules present with swelling on the lower side of front of neck. A growing neck mass can also indicate thyroid cancer along with difficulty while swallowing or change in voice.”

Some tips from HCFI

- Hypothyroidism is linked to weight gain. Thus, a person with this condition can find it difficult to lose weight. Consume a diet rich in fibre and low in fat to maintain a healthy weight.
- Although it may be difficult to get moving in those with a sluggish thyroid, it is a good idea to push yourself to do some physical activity.
- Stress is known to exacerbate thyroid disorders. Do something to reduce those stress levels. It could be yoga, meditation, dance, or anything.
- Know the symptoms Understand what the common symptoms of thyroid cancer are.
- Get Tested Have your GP check for nodules and test TSH levels every few years if you have risk factors for cancer.

Heart diseases are steadily rising in India

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Most people with known risk factors take neither preventive action nor prescribed medication

New Delhi, 14th July 2018: Deaths due to cardiovascular diseases are on the rise in India, causing more than one quarter of all deaths in the country and affecting rural populations and young adults the most, says a new study published in The Lancet Global Health.

What is alarming is the finding that even though most deaths were among people with previously known cardiac disease, at least half were not taking any regular medications for the condition. In India, most deaths occur at home and without medical attention.

Deaths due to both stroke and heart attack need research and action in order to achieve the United Nations Sustainable Development Goal of reducing cardiovascular mortality by 2030. To make progress at the global level, there is a need to first address this leading cause of mortality in India.

Speaking about this, Padma Shri Awardee, Dr K K Aggarwal, President, HCFI, said, “Cardiac diseases include coronary artery disease, heart attack, arrhythmias, heart failure, heart valve disease, congenital heart disease and cardiomyopathy, which are most common. Heart disease and other non-communicable diseases (NCDs) such as diabetes, hypertension, cancer, and stroke are steadily on the rise and will soon take epidemic proportions. The urban population is three times more likely to have heart attacks than those living in rural areas. The reason for this can be attributed to stress, aberrant lifestyle, and hectic schedules that leave very little or no time for physical activity. In recent times, healthy looking adults present with cases of cardiac arrest, stroke and hypertension or were at risk of developing any of these disease at any point in their lives.”

Almost 80% to 90% of premature deaths that occur due to these NCDs in the country are preventable through regular screening, timely medical intervention, and proper disease management. Women especially need extra attention as the symptoms they present maybe entirely different to that of men.

Adding further, Dr Aggarwal, who is also the Group Editor of IJCP, said, “There is a very small percentage of participant with favorable factors for not getting heart problems. This reiterates the need to adopt and maintain a healthy lifestyle to have a healthy heart and this should begin early on in life. As doctors, it falls upon us to educate our patients and make them aware of ways to live a healthy lifestyle to reduce the burden of disease in older age. I teach my patients the Formula of 80 to live up to the age of 80 years.”

•                    Keep lower blood pressure, low-density lipoprotein (LDL) ‘bad’ cholesterol, fasting sugar, resting heart rate and abdominal girth all below 80.

•                    Keep kidney and lung functions >80%.

•                    Engage in recommended amounts of physical activity (minimum 80 min of moderately strenuous exercise per week). Walk 80 min a day, brisk walk 80 min/week with a speed of at least 80 steps per min.

•                    Eat less and not >80 gm or mL of caloric food each meal.

•                    Take 80 mg atorvastatin for prevention, when prescribed.

•                    Keep noise levels below 80 dB.

•                    Keep particulate matter PM 2.5 and PM 10 levels below 80 mcg per cubic meter.

•                    Achieve 80% of target heart rate when doing heart conditioning exercise.

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