An experimental treatment happens to be the solution to delay Alzheimer's symptoms in some people. These people are the ones who are genetically destined to get the disease in their 40s or 50s. These new findings form ongoing research has now been caught up in Trump administration funding delas. The early results of the study has been published on Wednesday and the participants too are worried that politics could cut their access to a possible lifeline.

One of the participants had said, "It is still a study but it has given me an extension to my life that I never banked on having." The participant is named Jake Henrichs, form New York City, who is 50 years old. He is one of them to be treated in that study for more than a decade now and has remained symptom-free despite inheriting an Alzheimer's-causing gene that had killed his father and brother around the same age.

Slowing Down The Symptoms

Two drugs which can modestly slow down early-stage Alzheimer's are sold in the United States. These drugs clear the brain of one of its hallmarks, a sticky gunk-like part called the amyloid. However, there have not been any hints that removing amyloid far earlier, way many years before the first symptoms appear, may postpone the disease.

How Was The Research Conducted?

The research is led by Washington University in St Louis, which involved families that passed down rare gene mutation as participants. This meant it was almost guaranteed that they will develop symptoms at the same age their affected relatives did.

The new findings is based on a subset of 22 participants who received amyloid-removing drugs the longest, on average eight years. Long-term amyloid removal cut in half their risk of symptom onset. The study is published in the journal Lancet Neurology.

Washington University's Dr Randall Bateman, who directs the Dominantly Inherited Alzheimer's Network of studies involving families with these rare genes says, "What we want to determine over the next five years is how strong is the protection. Will they ever get the symptoms of Alzheimer’s disease if we keep treating them?”

The researchers before though did not know what exactly caused Alzheimer's which affects nearly 7 million Americans, most of them in their later life. However, it is clear that these silent changes occur in the brain at least two decades before the first symptom shows up. The big contributor. At some point amyloid buildup can trigger a protein named tau that then starts to kill neurons, which can lead to cognitive decline.

Researchers are now thus studying the Tau-fighting drugs and are looking into other factors, like inflammation, brain's immune cells and certain virus.

The National Institute of Health (NIH) has expanded its focus as researchers have found more reasons for Alzheimer's. In 2013, the NIH's National Institute on Aging funded 14 trials of possible Alzheimer's drugs over a third targeting amyloid. By last fall, there were 68 drugs and 18% of them target amyloid. However, there are scientists too who think that amyloid is not everything and their is way more in the brain tissue, immune cells, and more which can be studied.

In a groundbreaking move, the US Food and Drug Administration has approved the first-ever dual adeno-associated virus (AAV) vector-based gene therapy to treat hearing loss.

AAV-based gene therapy offers potential treatment for patients with OTOF gene-associated severe-to-profound hearing loss.

Developed by American Biotechnology company Regeneron, Otarmeni has been approved for the treatment of pediatric and adult patients with severe-to-profound and profound sensorineural hearing loss (any frequency more than 90 dB HL) associated with molecularly confirmed biallelic variants in the OTOF gene.

To date, no disease-modifying treatments exist for OTOF-related deafness.

“Today’s approval is a significant milestone in the treatment of genetic hearing loss,” said FDA Commissioner Marty Makary, in a statement.

“Through the national priority voucher pilot program, the agency is accelerating therapies for rare diseases with unmet medical needs while proving we can successfully review even the most complex submissions—such as novel dual vector gene therapies and combination products requiring coordination across multiple offices and centers—in significantly shortened timeframes,” Markary added.

Importantly, the company has announced that it will offer the therapy free of cost to qualifying individuals, at least during the initial rollout phase. The company cited its commitment to accessibility and patient impact as key reasons behind the decision.

How Otarmeni Works

Hearing loss affects over 430 million people worldwide, with a significant portion caused by genetic mutations. Genetic mutations cause about half of congenital hearing loss. Variants in the OTOF gene account for 2 per cent to 8 per cent of inherited, non-syndromic cases.

Until now, treatment options have largely been limited to hearing aids or cochlear implants, which assist hearing but do not address the underlying cause.

Genetic mutations cause about half of congenital hearing loss. Variants in the OTOF gene account for 2 per cent to 8 per cent of inherited, non-syndromic cases.

The OTOF gene is responsible for producing otoferlin, a protein essential for transmitting sound signals from the inner ear to the brain. Without it, sound cannot be processed, resulting in profound deafness.

Otarmeni is for patients with preserved outer hair cell function and no prior cochlear implant in the same ear.

Otarmeni includes a dual adeno-associated virus serotype 1 (AAV1) vector gene therapy administered as a single dose per ear surgically into the cochlea via a syringe and catheter provided in the Administration Kit and connected to an infusion pump.

The therapy delivers a functional copy of the OTOF gene to inner hair cells to restore otoferlin production and auditory signaling.

Are There Any Side Effects

The FDA noted that the common side effects included middle ear infection, nausea, dizziness, and procedural pain. Providers should monitor for surgical complications. It noted that the therapy is not recommended for patients with anatomy that prevents safe access to the inner ear.

The FDA approval comes after a landmark study, published in the New England Journal of Medicine, showed the benefits of hearing restoration. In trials, 80% of children aged 10 months to 16 years showed real improvement in just 24 weeks. This is not expected in the natural history of the disease without intervention.

For the past two days, Delhi locals have been waking up to extreme heatwave conditions. The India Meteorological Department (IMD) issued a warning of an extreme heatwave for Friday and Saturday, and we are now on day 2. On Friday, temperatures in the national capital were recorded at 43.1 degrees Celsius and 41.9 degrees Celsius. At the Ridge station and Lodhi Road, a high of 41.8 degrees was recorded, which met the criteria for heatwave conditions. Citing this, the IMD issued a yellow alert for Saturday, forecasting isolated heatwave conditions in the city. With this comes an increased risk of heat stress.

What is heat stress?

Heat stress refers to a state wherein the body absorbs more heat from the environment or produces heat through exertion that overwhelms the body's natural cooling system. This is caused by humidity, high temperatures, or exercise, leading to symptoms like headaches, dizziness, and, in extreme cases, heatstroke.

Heat stress occurs when the body is exposed to radiant heat, high air temperature, physical exertion, high humidity, or low air movement. It harms the body's ability to maintain a normal core temperature, thereby resulting in dehydration and cardiovascular strain. It is advised to wear protective clothing and drink plenty of water to stay hydrated.

What are the signs of heat stress?

Dr Anirban Chattopadhyay, Senior Consultant, Critical Care Medicine, CK Birla Hospitals, CMRI, in an interaction with Health and Me, spoke about the symptoms of heat stress. The expert said, “As the summer season begins and the sunlight is now scorching, heat and related symptoms increase. One of the early symptoms of heat exhaustion is headache, light-headedness, dizziness, and brain fog. This happens because the brain is temperature-sensitive. That is why patients often experience a headache when temperatures rise. This occurs due to vasoconstriction. One may experience dizziness and brain fog because the brain cannot withstand high levels of heat. These are the early symptoms of heat stress.”

When heat stress or prolonged heat exposure continues, it can progress to a more serious condition. This may even lead to a comatose state, known as heatstroke. Therefore, avoid direct sunlight exposure. If possible, stay indoors during peak hours, from 12 pm to 3 pm. Drink plenty of water to keep yourself hydrated, and consume electrolyte-containing fluids to maintain balance. When going out, use umbrellas and sunglasses, and wear breathable fabrics like cotton.

Heatwave across Central and North India

The heatwave is not restricted to the national capital—it is currently affecting northern and central states such as Madhya Pradesh, Rajasthan, Bihar, Chhattisgarh, Chandigarh, and Haryana. The conditions are likely to continue until April 27, with low chances of relief in the coming week.

World Malaria Day is observed on April 25 every year - on this day, experts spread awareness about malaria, an infection caused by the bite of the female Anopheles mosquito. Its symptoms include extremely high fever, headaches, chills, and fatigue. However, ahead of or during the monsoon season, people often get confused between viral fever and malaria due to similar symptoms. As a result, the infection is diagnosed late. On this occasion, Health and Me interacted with experts to learn more about the tests that one must take for malaria diagnosis.

An increase in the number of patients presenting at diagnostic centres with very high fevers has been attributed to people assuming they have a seasonal virus; however, when these patients present later, they often have life-threatening complications. According to the World Health Organization, over 280 million cases of viral infections worldwide were reported last year, making the clinical distinction between malaria and viral diseases increasingly deceptive.

Which tests to take for malaria diagnosis?

Dr Divya C, Microbiologist at Neuberg Anand Reference Laboratory, said, “Diagnostic testing has also transformed from the traditional microscope to more advanced diagnostic techniques, such as dual-target RDT (rapid diagnostic test), which detects HRP2 and Pf-LDH antigens. The RDT may not be able to detect some infections with lower numbers of malaria parasites circulating in the patient’s bloodstream. Therefore, all negative RDTs must be followed by microscopy to confirm the result.”

The expert went on to say that molecular PCR tests are now the preferred tests for cases with low parasite density or asymptomatic carriers, as they can detect fewer than 10 parasites per microlitre of blood with high levels of sensitivity. Some leading laboratories that perform PCR testing are also including AI-assisted digital microscopy as a supplement to the process, reducing human fatigue and providing significantly more precise results than a manual smear could.

What happens when malaria is diagnosed late?

The risk of “waiting to see” if malaria develops after the initial temperature spike is that, unlike most other viral fevers, malaria infects human red blood cells; the consequence of waiting can be organ failure or cerebral complications within 48–72 hours after the initial symptomatic temperature spike.

It is recommended that any patient with cyclic chills, excessive sweating, or fatigue should be tested based on differential diagnosis, as India moves towards becoming malaria-free by 2027. There is a short 15-minute diagnostic window to determine whether a patient can be treated without complications or is at risk of dying from malaria if it is missed.

Dr Praveen K Bharti (Scientist G), Director, ICMR–National Institute of Research in Tribal Health (NIRTH), Jabalpur, said, “We need testing to catch malaria early, but we also need the right kind of tests. Traditional tests often miss low-density, mixed, and asymptomatic infections. These are not minor gaps. As India advances towards its malaria elimination goals by 2030, point-of-care molecular tests for malaria diagnosis that can detect low-density, hidden reservoirs of infection will prove to be the key differentiator.”