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Comment by Dr. Krishna Kumari Challa on September 26, 2024 at 9:10am

How do rare genetic variants affect health? AI provides more accurate predictions

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the population, the influence on the presentation of certain pathological traits has so far been difficult to determine.

Researchers  have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants.

The paper, "Integration of Variant annotations using deep set networks boosts rare variant testing," has been published in Nature Medicine .

The method allows persons with high risk of disease to be distinguished more precisely and facilitates the identification of genes that are involved in the development of diseases.

Every person's genome differs from that of their fellow human beings in millions of individual building blocks. These differences in the genome are known as variants. Many of these variants are associated with particular biological traits and diseases. Such correlations are usually determined using so-called genome-wide association studies.

But the influence of rare variants, which occur with a frequency of only 0.1% or less in the population, is often statistically overlooked in association studies.

Rare variants in particular often have a significantly greater influence on the presentation of a biological trait or a disease.

AI  can therefore help to identify those genes that play a role in the development of a disease and that can then point us in the direction of new therapeutic approaches.

More details can be found here:  Integration of Variant annotations using deep set networks boosts rare variant testing, Nature Medicine (2024). DOI: 10.1038/s41588-024-01919-z. www.nature.com/articles/s41588-024-01919-z

Comment by Dr. Krishna Kumari Challa on September 26, 2024 at 8:53am

'Invisible forest' of phytoplankton thrives as ocean warms, study shows

An "invisible forest" of phytoplankton is thriving in part of our warming ocean, new research shows.

Phytoplankton are tiny drifting organisms that do about half of the planet's primary production (forming living cells by photosynthesis). The new study examined phytoplankton at the ocean surface and the subsurface—a distinct layer of water beneath—to see how climate variability is affecting them.

 The findings show these two communities are reacting differently. The paper is titled "Climate variability shifts the vertical structure of phytoplankton in the Sargasso Sea."

Over the last decade, the total biomass (living material) of subsurface phytoplankton has increased in response to warming.

Meanwhile, surface phytoplankton now has less chlorophyll—making it less green—but in fact, total biomass has remained stable.

Based on 33 years of data from the Bermuda Atlantic Time-series Study (BATS) in the Sargasso Sea, the findings also suggest the depth of the surface mixed-layer (region of turbulence at the surface of the ocean) has shallowed as the ocean rapidly warmed in the last decade.

It's important to understand these trends because phytoplankton are the foundation of the marine food web, and play a key role in removing carbon dioxide from the atmosphere.

These findings reveal that deep-living phytoplankton, which thrive in low-light conditions, respond differently to ocean warming and climate variability compared to surface phytoplankton.

We typically rely on satellite observations to monitor phytoplankton, but the subsurface is hidden from satellite view.  But this study highlights the limitations of satellite observations, and underscores the urgent need for improved global monitoring of phytoplankton below what satellites can see. 

Climate variability shifts the vertical structure of phytoplankton in the Sargasso Sea, Nature Climate Change (2024).

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 12:25pm

Octopuses Team Up With Fish to Hunt, And Will Punch Them if They Act Up

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:59am

Ways you can help limit your pain during the insertion:

Time your IUD insertion procedure to around your period. The cervix is more open when you're on your period, so there's less sensitivity to pain. If the timing does not work out, it is still possible to have an IUD placed at any time in the cycle.
Medications. Take 600–800 mg of ibuprofen before your appointment. Ibuprofen is often recommended because it's a non-steroidal, anti-inflammatory drug that works specifically well on uterine tissue. Other options to ask your doctor about include a lidocaine numbing ointment or a lidocaine injection for the cervix, which can also decrease some of the pain. There are several networks of nerves supplying the uterus and cervix, which makes it difficult to completely numb the entire area with local anesthetics and eliminate all pain during an IUD insertion. But studies have shown that it may help with some of the pain during insertion. And depending on your situation, your doctor might also suggest an anti-anxiety medication before your insertion appointment.
Heat packs. Ask your doctor if a heat pack is available. Place this over your pelvis during the procedure to help ease the pain.
Other tips to prepare for the insertion procedure include:

Eating a meal before you come in.
Making sure you are hydrated.
Wearing comfy clothes.
Bringing a light snack for after the procedure.
Bringing a book or your phone to watch videos or listen to music. "This can take your mind off the process," Kuhn says.
Bringing or ask your doctor for pads for potential spotting afterwards.
Clearing your schedule for the day. The most painful part is during the 30 seconds when the IUD is being placed. But you may have some mild period-like cramping afterward and want to just be on the couch with a heating pack.

Source:  Rush University Medical Center

Part 2

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Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:58am

How painful is it to get an IUD? What to expect when getting an IUD, and how to prepare

Bleeding, intense cramping, even fainting: These are some of the experiences women are sharing across social media about IUDs—especially with the pain they feel during an insertion.

IUDs—short for intrauterine devices—have become an increasingly popular birth control option. But along with the growing use of the small T-shaped devices, there are increasing concerns from women about whether health care professionals are fully addressing patients'pain.

This prompted the Centers for Disease Control and Prevention to update its guidelines regarding IUDs, advising doctors to tell patients about the possible pain and discuss pain relief options before putting in an IUD.

How painful is it really?

It depends, because everyone's pain tolerance is a bit different.

It's hard to know who's going to have more or less pain when having an IUD inserted.

There are three parts to the procedure that can typically cause pain. They include:

• Straightening the cervix: Your doctor will use a tool called a tenaculum to hold and straighten the cervix. This helps to make sure the IUD is placed correctly inside the uterus.
• Measuring the uterus: Your doctor will measure the length of the uterus with a small device called a sound. This tool goes through the cervix to the top of the uterus to find out its size.
• Placing the IUD: Finally, the IUD is placed at the top of the uterus. The strings are then trimmed, and the instruments are removed.

But experts say the pain shouldn't stop you from considering an IUD.

Hormonal IUDs have a variety of benefits such as shorter menstrual periods, lighter cramping, and not having to worry about an unintended pregnancy. They can also be used to treat endometriosis, anemia, and even prevent endometrial pre-cancer and cancer.

IUDs are as effective as getting your tubes tied in terms of prevention of pregnancy. They're really an investment that can last for up to eight to 10 years. And working with your doctor ahead of time can help make the experience more comfortable for you.

Part 1

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:52am

Emotion enhances memory for contextual details, research demonstrates

Researchers have demonstrated that emotion enhances memory for contextual details, challenging the view that emotion impairs the ability to remember such information.

Researchers demonstrated that the circumstances where you can prevent forgetting contextual details, which not only disrupts the status quo at the theoretical level, but also has practical implications about what you can do to control, channel and capitalize on the emotions' energy to remember better.

In emotional situations, people often focus more on the main subject—the crashed car, the yelling stranger, the crying child—and less on peripheral information. In three interconnected studies, the  researchers linked behavioural, attentional and brain imaging data to build a complete image of emotion's impact and account for this involuntary attention shift.

They found that emotion enhances the ability to retrieve contextual details.

In emotional situations that participants in the experiments accurately recalled, functional magnetic resonance imaging data showed evidence of crosstalk between emotion-processing and recollection-processing brain regions, boosting recollection of contextual details. This is contrary to the prevalent view that emotion impairs memory for these details by inhibiting recollection-processing brain regions.

Knowing how emotion impacts memories and how to manage them is a major step toward contextualizing memories, increasing well-being and alleviating clinical conditions like depression, anxiety and post-traumatic stress disorder.

Paul C. Bogdan et al, Reconciling opposing effects of emotion on relational memory: Behavioral, eye-tracking, and brain imaging investigations., Journal of Experimental Psychology: General (2024). DOI: 10.1037/xge0001625

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Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:46am

Human and other primate hearts differ genetically, says study

A research  team  has shown how human and non-human primate hearts differ genetically. The study, published in Nature Cardiovascular Research, reveals evolutionary adaptations in human hearts and provides new insights into cardiac disease.

Humans are 98–99% genetically similar to chimpanzees. What then accounts for our differences? Over the years, researchers have shown that the regulation of gene expression—when, where, and by how many genes are switched on—is in large part responsible for our divergent evolutionary trajectories.

Now, researchers in the Cardiovascular and Metabolic Sciences Lab  have unveiled surprising differences in gene expression in the hearts of humans and non-human primates. The research points to adaptations in the way genes are regulated that distinguish our hearts from those of our closest evolutionary relatives. It also serves as a warning against extrapolating research from animal hearts to human hearts.

One of the most surprising findings was how gene regulation in the human heart differs so much from other primates. In terms of anatomy, most mammalian hearts are similar. But we have many unique evolutionary innovations in terms of gene regulation or translation of proteins. 

The researchers found hundreds of genes and microproteins—tiny proteins that have been previously identified in human organs but whose function has mostly been a mystery—present in human hearts but not in the hearts of other primates, rats or mice. Many of these human genes and microproteins are also abnormally expressed in heart failure, which suggests they could play important roles in cardiac function and disease and may present new targets for therapy.

Jorge Ruiz-Orera et al, Evolution of translational control and the emergence of genes and open reading frames in human and non-human primate hearts, Nature Cardiovascular Research (2024). DOI: 10.1038/s44161-024-00544-7

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:40am

Cognitive scientists reveal similarity between social and spatial navigation

How do people navigate social networks to understand and appreciate who knows what and who is connected to whom? With mental maps, according to a new study by researchers.

According to the researchers, the study showed for the first time that people create mental maps of the connections between acquaintances, friends, and friends of friends to navigate their social worlds. Social navigation, the team found, is similar to spatial navigation.

The cognitive process people use to navigate social networks appears to be similar to the cognitive process used by mice navigating a maze.

We know from decades of research that mice, and humans, build mental maps to understand their physical worlds. People seem to use maps to make sense of social environments as well.

Jae-Young Son et al, Replay shapes abstract cognitive maps for efficient social navigation, Nature Human Behaviour (2024). DOI: 10.1038/s41562-024-01990-w

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 11:15am

Scientists clarify the neuronal basis of the mathematical concept of 'zero'

Despite its importance for mathematics, the neuronal basis of the number zero in the human brain was previously unknown. Researchers  have now discovered that individual nerve cells in the medial temporal lobe recognize zero as a numerical value and not as a separate category "nothing."

The results have now been published in the journal Current Biology.

The concept of the number zero has been central to the development of number systems and mathematics and is widely regarded as one of humanity's most important cultural achievements.

Unlike other numbers such as one, two or three, which represent countable quantities, zero means the absence of something countable and at the same time still has a numerical value.

In contrast to positive natural numbers, the concept of the number zero only emerged late in human history over the last two millennia. This is also reflected in childhood development, as children are typically only able to understand the concept of zero and associated arithmetic rules at around the age of six.

Number zero is a numerical value for neurons

In the experiments conducted , there was a numerical distance effect in which neurons reacted weaker, but measurably, also to the neighboring number one.

So at the neuronal level, the concept of zero is not encoded as a separate category 'nothing,' but as a numerical value integrated with other, countable numerical values at the lower end of the number line.

For Arabic numerals, however, this effect was not found at either the neural or behavioral level. From this, the researchers recognize the importance of symbolic representations, for example through Arabic numerals, for the integration of the number zero on the number line in the human brain.

Esther F. Kutter et al, Single-neuron representation of nonsymbolic and symbolic number zero in the human medial temporal lobe, Current Biology (2024). DOI: 10.1016/j.cub.2024.08.041

Comment by Dr. Krishna Kumari Challa on September 25, 2024 at 10:00am

Gut microbiome communities found to have enhanced resilience to drugs

Many human medications can directly inhibit the growth and alter the function of the bacteria that constitute our gut microbiome. Researchers have now discovered that this effect is reduced when bacteria form communities.

In a first-of-its-kind study, researchers compared a large number of drug-microbiome interactions between bacteria grown in isolation and those part of a complex microbial community. Their findings were recently published in the journal Cell.

For their study, the team investigated how 30 different drugs (including those targeting infectious or noninfectious diseases) affect 32 different bacterial species. These 32 species were chosen as representative of the human gut microbiome based on data available across five continents.

They found that when together, certain drug-resistant bacteria display communal behaviors that protect other bacteria that are sensitive to drugs. This "cross-protection" behavior allows such sensitive bacteria to grow normally when in a community in the presence of drugs that would have killed them if they were isolated.

Up to half of the cases where a bacterial species was affected by the drug when grown alone, it remained unaffected in the community.

The researchers then dug deeper into the molecular mechanisms that underlie this cross-protection. The bacteria help each other by taking up or breaking down the drugs. These strategies are called bioaccumulation and biotransformation respectively.

However, there is also a limit to this community strength. The researchers saw that high drug concentrations cause microbiome communities to collapse and the cross-protection strategies to be replaced by "cross-sensitization." In cross-sensitization, bacteria which would normally be resistant to certain drugs become sensitive to them when in a community—the opposite of what the authors saw happening at lower drug concentrations.

Just like the bacteria they studied, the researchers also took a community strategy for this study, combining their scientific strengths.

Sarela Garcia-Santamarina et al, Emergence of community behaviors in the gut microbiota upon drug treatment, Cell (2024). DOI: 10.1016/j.cell.2024.08.037

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