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Experts call for increasing prenatal screening to prevent thalassemia



Experts call for increasing prenatal screening to prevent thalassemia

Prenatal screening is of utmost importance to prevent thalassemia, a blood disorder, said doctors here calling on the need to increase screening.

Thalassemia is an inherited blood disorder transmitted from both the parents to children, resulting in reduced haemoglobin, due to which the body’s red blood cells, which carry oxygen to all the cells of the body, are not able to function properly. This leads to anaemia, which makes the patient feel tired or short of breath.

Severe anaemia can damage organs of the body. Additionally, repeated blood transfusions lead to iron overload which can cause organ damage, if not managed adequately.

India has the largest number of children with thalassemia major in the world about 1-1.5 lakhs. About 10,000-15,000 children having thalassemia are born every year in the country accounting for 10 per cent of the total world incidence.

With early prenatal screening and detection, it is possible to diagnose a congenital defect as early as possible during pregnancy.

“Avoiding the birth of a thalassemic child is the only feasible solution to the challenge of thalassemia facing the society today. When a woman is pregnant, she should be screened for this disease. If she is found to be a carrier, the husband should also be tested,” said Dr (Prof) Pravas Mishra, Head, Haematology & BMT, Amrita Hospital, Faridabad.

“If both are found positive, then a test is required on the unborn foetus. If the foetus is found to be affected, then the parents can consider the option of abortion and avoid the birth of a thalassaemic child,” he added.

Since thalassemia is a genetically transmitted disease, the child would either be thalassaemic or a carrier. A carrier child doesn’t suffer from the disease. A recent study conducted by the National Health Mission (NHM) stated that about 42 million people in India are silent carriers of the condition.

While thalassemia is curable via stem-cell transplant, the costs involved are very high, about Rs 12-15 lakh. In addition, finding a matching donor is also a burden for families.

“Thalassemia major is a preventable illness, thus more efforts and awareness is required to help people understand the ways of preventing thalassemia. Having said this, there are a large number of kids who continue to suffer from thalassemia with a huge psychological and financial burden leading to poor quality of life and decreased life expectancy,” said Dr Gaurav Kharya, Advisor, Bone Marrow Transplant & Cellular Therapy at Indraprastha Apollo Hospital, New Delhi.

“Just like being preventable, for kids affected with thalassemia major, it is very much a curable disease by offering a bone marrow transplant using either hla identical or haploidentical donor,” he added.

However, Dr Mishra said a matching donor is found within the patient’s family only in 25-30 per cent of the cases.

“The rest of the patients have to wait to find an unrelated donor. The ideal time for undergoing a stem cell transplant is before the patient enters teenage. In later years, there is a risk of suboptimal responses due to iron overload in the body,” he noted.

Thalassemia patients also need repeated blood transfusions, sometimes quite frequently in a month. Getting good quality blood, and as often as required, is a big challenge for them.A

Although several thalassemia societies exist today and try to help patients by connecting them with local blood banks and government medical colleges to get free blood transfusions, this, however, remains inaccessible for most patients.

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Measles cases rising again globally: Report



Measles cases rising again globally: Report

Measles is rising again in several countries including India, the US, the UK, New Zealand, Indonesia, amd Ethiopia.

Measles is a highly contagious, serious disease caused by a virus in the paramyxovirus family and it is normally passed through direct contact and through the air. The virus infects the respiratory tract, then spreads throughout the body.

With four confirmed cases, a measles outbreak has been reported in the Pukhri medical block of Chamba district in Himachal Pradesh. Following the outbreak on April 18, the Health Department has initiated active case search and identified 17 more children with measles-like symptoms.

The deadly disease of measles has also been reported in Jharkhand, Uttar Pradesh, Hyderabad, Pune, and Mumbai.

In the UK, the Health Security Agency (UKHSA) reported a “very concerning” rise in the number of people catching measles in the country. In 2022, the country saw 54 cases, but the number stands at 49, in just four months of 2023.

Indonesia has recorded a total of 2,161 suspected measles cases (848 laboratory-confirmed and 1,313 clinically suspected) between January 2 and April 3, according to the World Health Organisation (WHO).

Although measles is endemic in Ethiopia, the annual number of confirmed measles cases has “increased significantly” with 6,933 cases reported till May 1, the WHO said.

The global health body, in a recent report said, the number has been rising — from 1,953 in 2021 to 9,291 (an increase of more than 375 per cent) in 2022.

New Zealand detected a second case of measles with health experts warning it has the potential to “spread like wildfire” if people aren’t immunised.

Maine in the US has also detected 2 cases of measles, while American Samoa has declared a measles emergency after one confirmed and 31 probable cases of the viral infection.

The main symptoms of measles are a fever and a rash. But it can cause more serious complications including meningitis, and an infection can be fatal. That is why the measles, mumps and rubella (MMR) vaccine is part of routine childhood immunisations.

Health experts note that the rise is due to decline in routine vaccination due to the Covid-19 pandemic.

A recent report released by UNICEF showed that 67 million children across the world missed out on either some or all routine vaccinations between 2019 and 2021, and 48 million children didn’t receive a single dose during this time period.

India had 2.71 million children in 2021 who did not receive even a single dose of vaccine against DTP3. About more than 3.5 million, accounting for 15 per cent of the world’s total, missed the vaccine in India, as per the report.

Measles jumps from person to person so readily that 95 per cent of people need to be immunised to block its spread.

“We are calling on all parents and guardians to make sure their children are up to date with their two MMR doses. It’s never too late to catch up, and you can get the MMR vaccine for free on the NHS whatever your age,” Dr Vanessa Saliba, from the UKHSA, said in a statement.

Meanwhile, a WHO report said that India is targeting a vaccination coverage of 95 per cent with two doses of measles and Rubella (MR) vaccine to achieve MR elimination. The MR vaccine is given free under India’s Universal Immunisation Programme. India also vaccinated over 344 million children between 2017 and February 2023 through a wide-age range MR vaccination campaign.

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New test can rapidly detect Parkinson’s, chronic wasting disease



New test can rapidly detect Parkinson’s, chronic wasting disease

New York: US researchers have developed a groundbreaking new diagnostic technique that will allow for faster and more accurate detection of neurodegenerative diseases Alzheimer’s and Parkinson’s, and chronic wasting disease in animals.

Neurodegenerative diseases such as Alzheimer’s, Parkinson’s, mad cow disease, and CWD (widely found in deer) share a common feature — the buildup of misfolded proteins in the central nervous system. Detecting these misfolded proteins is crucial for understanding and diagnosing these devastating disorders.

However, existing diagnostic methods, like enzyme-linked immunosorbent assay and immunohistochemistry, can be expensive, time-consuming, and limiting in terms of antibody specificity.

The novel method, developed by University of Minnesota researchers, dubbed Nano-QuIC (Nanoparticle-enhanced Quaking-Induced Conversion), significantly improves the performance of advanced protein-misfolding detection methods, such as the NIH Rocky Mountain Laboratories’ Real-Time Quaking-Induced Conversion (RT-QuIC) assay.

“Testing for these neurodegenerative diseases in both animals and humans has been a major challenge to our society,” said Peter Larsen, Assistant Professor in the University’s Department of Veterinary and Biomedical Sciences.

“What we’re seeing now is this really exciting time when new, next generation diagnostic tests are emerging for these diseases. The impact that our research has is that it’s greatly improving upon those next generation tests, it’s making them more sensitive, and it’s making them more accessible,” he added.

The RT-QuIC method, detailed in the journal Nano Letters, involves shaking a mixture of normal proteins with a small amount of misfolded protein, triggering a chain reaction that causes the proteins to multiply and allowing for the detection of these irregular proteins.

Using tissue samples from deer, the team demonstrated that adding 50-nanometre silica nanoparticles to RT-QuIC experiments dramatically reduces detection times from about 14 hours to only four hours and increases the sensitivity by a factor of 10.

A typical 14-hour detection cycle means that a lab technician can run only one test per normal working day. However, with a detection time of less than four hours, researchers can now run three or even four tests per day.

Having a quicker and highly accurate detection method is particularly important for understanding and controlling transmission of CWD, a disease that is spreading in deer across North America, Scandinavia, and South Korea.

The researchers believe that Nano-QuIC could eventually prove useful for detecting protein-misfolding diseases in humans, specifically Parkinson’s, Creutzfeldt-Jakob Disease, Alzheimer’s, and ALS.

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Early smoking cessation may boost survival in lung cancer patients



Early smoking cessation may boost survival in lung cancer patients

Quitting smoking early was associated with higher survival rates following a lung cancer diagnosis, according to a study.

The study, led by researchers at Harvard T.H. Chan School of Public Health, showed that compared to those who never smoked and were being treated for non-small cell lung cancer (NSCLC), current smokers had 68 per cent higher mortality and former smokers had 26 per cent higher mortality.

“Our participants’ smoking histories varied, with some having stopped smoking a few years before their diagnosis and others having stopped several decades before,” said senior author David Christiani, Professor of Environmental Genetics.

“This wide range gave us confidence in our results — that the benefit of pre-diagnosis smoking cessation persists even after lung cancer is diagnosed.”

The study, published online in JAMA Network Open, followed 5,594 patients with NSCLC — which accounts for 85 per cent of all lung cancer cases — enrolled between 1992 and 2022. Of these participants, 795 had never smoked; 3,308 were former smokers; and 1,491 were current smokers.

During the study period, 3,842 of the participants died: 79.3 per cent of the current smokers, 66.8 per cent of the former smokers, and 59.6 per cent of the never smokers.

While never smoking was associated with the best odds of survival after a lung cancer diagnosis, the findings showed significant associations between lower mortality and having quit smoking pre-diagnosis.

The longer a patient went without smoking, the more health benefits they accrued: For former smokers, doubling the years of smoking cessation before their lung cancer diagnosis was significantly associated with prolonged survival.

Conversely, doubling smoking-pack years was associated with shorter survival among current and former smokers diagnosed with NSCLC.

The researchers noted that associations between survival and smoking history may vary depending on the clinical stage at which lung cancer was diagnosed, and that the study did not account for the different kinds of treatment participants were receiving.

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‘Awareness the lone solution to overcome thalassaemia-related complications’



Experts call for increasing prenatal screening to prevent thalassemia

Hyderabad: There are at least 5 crore people in India who are carriers of Thalassaemia ailment, as per various studies, and at least 12,000 new-born babies get added to this each year.

Under normal circumstances, though 50 per cent of thalassemia victims go on to live beyond 55 years of their age, quality of their life is not as desired, and there is a high possibility of them transferring the ailment to the next generations through their progeny.

Since 1994, May 8 is commemorated as the International Thalassaemia Day to spread awareness about the ailment. This year, the theme for this is “Be Aware. Share. Care: Strengthening Education to Bridge the Thalassaemia Care Gap”. Like every other time, doctors prescribe prevention is better than cure to overcome this problem.

Dr Kishore B. Reddy, Amor Hospital said: “Thalassaemia is an inherited ailment! Even popular actors like Amitabh Bachchan and Jackie Shroff are victims of thalassaemia. Internationally renowned sporting superstars, Pete Sampras and Zinedine Zidane are among prominent people suffering from thalassaemia. Each of these and many others like them are leading an active life despite the problem. The biggest factor in this is being aware of the problem and ensuring proper care is taken, and taking necessary steps to ensure the ailment does not get carried to the next generation.”

“Like this year’s theme suggests, ‘being aware’ and ‘availability of the right cure’ ensures we overcome this problem. In a developing and relative nation like India it is important we spread maximum awareness about the problem to ensure our future generations are protected. This is because when both husband and wife have thalassaemia, then there is a 25 per cent probability of their children picking up a more severe variant of the ailment, and do not live beyond 30 years of age,” added Dr Narender Kumar Thota, Consultant Medical & Hemato Oncologist and BMT Physician, KIMS Hospitals, Secunderabad.

Dr Gowri Sankar, HOD and Senior Consultant – Internal Medicine, SLG Hospital said: “People living with Thalassaemia need access to ongoing, disease-specific education to better understand their condition and assert their basic right of equal access to appropriate care. Thalassaemia-treating physicians must know how to detect early and accurately diagnose the condition, interact effectively with competent authorities and provide patients with the best possible care. Governments in India must play an active role to ensure we move in the right direction to build a healthy India.”

Healthcare practitioners say the International Thalassaemia Day is a brilliant opportunity to help people with the condition live healthier, longer, and more productive lives by empowering them through knowledge sharing, information exchange, targeted awareness activities, and quality thalassaemia education. By maximising the knowledge and skills of every person affected by thalassaemia and the people who care for them, we can achieve positive changes in health behaviours, health outcomes and quality of life, and reduce the disease burden for patients and the society.

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Why is bladder cancer more common among men?



Why is bladder cancer more common among men?

New Delhi: Genetics, coupled with increased consumption of tobacco products, may explain the reason why men are more prone to bladder cancer, experts said here on Sunday.

Bladder cancer is the 10th most common cancer worldwide and the fourth most prevalent cancer among men, according to the World Health Organisation (WHO). About 550,000 new cases are detected every year worldwide.

The disease develops when bladder tissue cells begin to separate uncontrollably, and the incidence of bladder cancer is higher in males compared to females.

India has about 21,000 new cases of bladder cancer, and the incidence has been increasing over the last few years.

A recent report from Indian Council of Medical Research (ICMR) showed that Delhi has the highest cases of bladder cancer, followed by Thiruvananthapuram and Kolkata. Delhi also has the highest incidence of bladder cancer in females followed by Mumbai and Mizoram.

“Bladder cancer ranks among the top 10 types of cancer affecting thousands of people in India annually. While it can occur in both men and women, men are more commonly affected, likely due to genetics and lifestyle,” Dr Bhaskar Singh, from HCG NCHRI Cancer Centre – Nagpur, told IANS.

“Consumption of tobacco is a common reason for the increasing incidence of bladder cancer in India. The other reason is exposure to aromatic amines and carbon black dust in rubber, leather, and dye industries. The smokers have three-four times higher risk of bladder cancer as compared to non-smokers,” added Dr (Brig) A.K. Dhar, Senior Consultant Medical and Hemato Oncology, American Oncology Institute, Gurugram.

Dhar stated that the incidence of bladder cancer is four times higher in males as compared to females.

Another reason behind increased risk among men include the role of sex hormones.

“It is believed that androgen promotes, and oestrogen inhibits bladder carcinogenesis in the progression phase,” Dhar told IANS.

In addition, men who undergo radiation therapy for prostate cancer also have an increased risk of bladder cancer, the expert noted.

However, changing some lifestyle habits can lower the risk of bladder cancer.

Quitting smoking is one of the most important things you can do, as smoking is one of the biggest risk factors for bladder cancer.

“Tobacco is responsible for 40-50 per cent of bladder cancer. Quitting all kinds of tobacco will help in reduction of bladder cancer,” Dhar said.

Staying hydrated and avoiding exposure to harmful chemicals, such as those in certain industrial or agricultural settings, can also help reduce risk.

Regular screenings can also greatly increase the chances of successful treatment, as bladder cancer is often easier to treat in its early stages.

“If you experience symptoms such as blood in your urine, pain during urination, or frequent urination, it’s important to see a doctor immediately. Several conditions can cause these symptoms, but it’s important to rule out bladder cancer as a potential cause,” Singh said.

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