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Down Syndrome: The Case for Universal Prenatal Screening without Age Limitations

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Down Syndrome: Why prenatal screening should be universal, not age-limited

Kochi, March 21 (IANS) Screening all pregnancies, irrespective of age, may help in early identification of Down syndrome cases, said doctors on World Down Syndrome Day on Thursday. Children born with this genetic condition have an extra full or partial copy of chromosome 21, leading to various health issues.

“It is imperative to adopt universal first-trimester screening, employing biochemical marker measurements in blood and ultrasound examinations, which boasts up to 90 per cent accuracy in identifying foetal risk,” said Dr. Sheela Nampoothiri, Head of Paediatric Genetics at Amrita Hospital, Kochi.

Traditionally, screening for Down syndrome was usually conducted among women over 35 years, based on age-related assumptions. However, recent studies have shown that the condition can occur at any maternal age, highlighting the importance of universal screening for all pregnant women.

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Dr. Nampoothiri’s study at Amrita Hospital revealed that 78 percent of children with Down syndrome were born to mothers under 35 years, emphasizing the need for broader screening practices to avoid missing a significant number of cases.

Dr. Vipul Gupta, chief of Neurointervention at Artemis Hospital, Gurugram, pointed out that while the risk of Down syndrome increases with maternal age, it can still occur in pregnancies at any age. Universal screening allows for informed decisions about healthcare and pregnancy management for all expectant individuals.

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IANS, established in 1986, is India's largest independent news service, offering 24x7 news from India and South Asia, and a preferred source for diverse content across six business verticals.

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IIT-K and BFI collaborate to drive healthcare innovation in India

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IIT-K and BFI forge partnership to accelerate healthcare innovation in India

Kanpur, April 17 (IANS) – The Indian Institute of Technology Kanpur (IIT-K) has entered into a strategic partnership with Blockchain For Impact (BFI) to drive advancements in healthcare in India. Under the BFI-Biome Virtual Network Programme, this collaboration aims to nurture innovations in the healthcare sector.

As part of the partnership, BFI will support IIT Kanpur in promoting entrepreneurial initiatives through the Startup Incubation & Innovation Centre (SIIC). A Memorandum of Understanding (MoU) was signed at IIT Kanpur by Prof. Kantesh Balani, Dean of Resources and Alumni (DoRA), IIT Kanpur; and Dr. Gaurav Singh, CEO BFI.

BFI has committed to allocating over $150,000 across three years to develop programmes tailored to healthcare-focused startups at IIT Kanpur’s SIIC. This collaboration harnesses IIT Kanpur’s expertise in fostering entrepreneurship and BFI’s dedication to advancing biomedical research.

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Prof. Kantesh Balani, DoRA, IIT Kanpur, expressed his optimism about the partnership, stating, “This MoU will help us share knowledge, support startups effectively, and improve our capacity-building efforts.” Dr. Gaurav Singh, CEO of BFI, highlighted the inspiring work of IIT Kanpur incubatees in healthcare innovation and the alignment of missions to accelerate impactful solutions in biomedical research.

This partnership signifies a significant step towards advancing healthcare innovation in India by leveraging expertise and resources. The collaboration between IITK and BFI holds promise for improving public health and ensuring equitable healthcare access for all.

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Doctors are hopeful that gene therapy could be a breakthrough for haemophilia, a blood disorder

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Gene therapy holds promise for blood disorder haemophilia: Doctors

On World Haemophilia Day, doctors highlighted the potential of gene therapy in treating haemophilia, a hereditary blood disorder. Haemophilia is caused by missing or defective clotting factors and raises the risk of severe bleeding and joint damage. Genetic counselling and screening are crucial for affected individuals. India has a high number of haemophilia cases, but many go undiagnosed due to lack of screening capabilities.

Gene therapy offers a promising approach to treating haemophilia by delivering functional genes to correct the genetic defect responsible for deficient clotting factor production. Recent clinical trials show positive outcomes, including the use of lentiviral vectors at CMC Vellore. While current treatment involves factor VIII infusions, gene therapy may offer a cure for haemophilia, especially in low and middle-income countries.

According to Anoop P, Sr. Consultant – Haematology at Aster RV Hospital, “Gene therapy is a potentially curative treatment for haemophilia.” It allows for editing the faulty gene of a baby inside the uterus, known to be born with haemophilia due to a family history. Ongoing research on gene therapy shows promising results, indicating a potential paradigm shift in the management and cure of haemophilia.

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The Connection Between Daytime Sleep and Increased Risk of Dementia

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How daytime sleep can raise dementia risk

New Delhi, April 17 (IANS) Compensating for lack of sleep during the daytime may not be as effective as previously thought, warned Dr. Sudhir Kumar, a neurologist based in Hyderabad. According to Dr. Sudhir, daytime sleep is not in sync with the body’s natural clock and can increase the risk of dementia and other psychiatric disorders.

Dr. Sudhir, from Indraprastha Apollo Hospitals, highlighted in a post on X.com that daytime sleep is lighter and does not fulfill the body’s sleep requirements. He explained, “This fact is supported by numerous studies of night shift workers, who are predisposed to stress, obesity, cognitive deficits, and an elevated risk of neurodegenerative diseases.”

The neurologist pointed out that the glymphatic system, responsible for clearing the brain of protein waste products, is most active during sleep. Therefore, when there is a lack of sleep, the glymphatic system may fail, increasing the risk of dementia. Dr. Sudhir stated, “Glymphatic failure is the common pathway of dementia, leading to the accumulation of abnormal proteins in the brain.”

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Factors such as poor sleep quality, age, sedentary lifestyle, cardiovascular diseases, obesity, sleep apnoea, circadian misalignment, substance abuse, and depression can also suppress or result in the failure of the glymphatic system. Dr. Sudhir emphasized, “Good sleepers tend to live longer, weigh less, have a reduced incidence of psychiatric disorders, and maintain cognitive function for longer periods.”

In conclusion, Dr. Sudhir advised that consistently sleeping well at night can lead to better cognitive function and decrease the risk of dementia and psychiatric disorders. It is essential to prioritize quality sleep to maintain overall brain health and reduce the risk of neurodegenerative diseases.

–IANS
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