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According to a new study, people with rare diseases typically have to wait years for a thorough diagnosis, must frequently travel vast distances for specialty treatment, and suffer substantial out-of-pocket health care costs.

According to the findings of an Oregon State University research, these obstacles result in poor health-related quality of life, low patient satisfaction, and high levels of anxiety, sadness, and stigma. The continual education of medical personnel is a crucial role in tackling these difficulties, according to Kathleen Bogart, one of the primary authors and an associate professor of psychology at OSU.

“A really important area of intervention is ensuring that health care providers have a general knowledge of rare diseases,” Bogart said. “We’re not expecting them to know all 7,000 of them, but we’re expecting them to know some of what the clues are that you’re not dealing with a prevalent condition or a condition that’s easily diagnosed.”

If a doctor meets a patient who has been seeking a diagnosis for years with no success, she believes the doctor should take a new strategy, rather than sending the patient home with the conclusion that nothing can be done to help them.

Also Read: A person’s height may affect their risk for several common health conditions: Study

Rare Health Conditions

A illness is considered “rare” if there are less than 200,000 cases of it in the United States, according to the National Institutes of Health. The NIH lists roughly 7,000 diseases that fulfil this criteria, and while each condition is uncommon on its own, they impact around one in every ten Americans.

Researchers contacted 1,128 patients with rare diseases and parents of children with uncommon diseases from around the country for the study. Participants were asked about their diagnosis process, how educated they thought their medical professionals were, their own understanding about their condition, their insurance coverage, if they felt appropriately supported in their everyday lives, and what sort of stigma they faced.

A questionnaire was also added to measure patients’ health-related quality of life, with questions regarding physical function, weariness, sadness, anxiety, sleep, pain, and capacity to engage in everyday activities.

One of the most remarkable findings was the period between the beginning of symptoms and diagnosis: 16% of persons waited 10 years or more for a correct diagnosis, while 17% waited between four and nine years.

Participants also reported seeing many physicians before being diagnosed: 38 percent saw two or three providers, 24 percent saw four or five providers, and 5 percent saw more than 15 clinicians. Almost half of those polled said they had to travel more than 60 miles to get treatment for a rare ailment.

Patients rated their original physician far worse than the provider who was able to accurately identify them, frequently saying that they did not believe their initial provider was willing to explore several possible conditions or approach other clinicians for aid in diagnosing.

The research also inquired about individuals’ access to dental and mental health treatment. While the majority of respondents reported adequate medical help after getting a diagnosis, many reported insufficient dental and mental health support. Uncommon disorders sometimes need specialist dental treatment, which is difficult to come by, and mental health doctors seldom receive training on rare conditions, according to Bogart.

The research started as a cooperation with the Minnesota State Chloe Barnes Advisory Council on Rare Diseases, which was formed to focus on legislative policy addressing issues such as insurance coverage and provider education.

Bogart hopes that additional states, including Oregon, will establish rare illness councils. The council is striving to learn more about the major problems that patients with rare diseases face, as well as to provide tools for doctors to help them navigate unusual diagnosis.

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The Supreme Court stated on Friday that if one more Special Stray Round of counselling is held now, as requested, it may have an impact on the admission process for NEET-PG-2022, and that the decision of the Union Government and the Medical Counselling Committee not to hold a Special Stray Round of counselling is in the best interests of medical education and public health.

The top court also remarked that “there cannot be any compromise with the merits and/or quality of Medical Education, which may ultimately affect the Public Health.” “The decision of the Union Government and the Medical Counselling Committee not to have Special Stray Round of counselling is in the interest of Medical Education and Public Health, ” the apex court said.

The vacation bench of Justices MR Shah and Aniruddha Bose made the statement while rejecting petitions seeking to have a Special Stray Round of counselling to allow candidates to compete for empty seats left after the All India Quota stray vacancy round (AIQ).

Also Read: NEET-PG 2021: SC rejects plea seeking special round of counselling to fill vacant 1,456 seats

“The process of admission and that too in the medical education cannot be endless. It must end at a particular point in time. The time the schedule has to be adhered to, otherwise, ultimately, it may affect the medical education and public health, ” the Court said.

“Apart from the fact that after the closure of the last round of counselling on May 7, 2022, the entire software mechanism has been closed and the security deposit is refunded to the eligible candidates, it is to be noted that the admission process for NEET-PG-2022 has already begun, the results for the NEET-PG-2022 has been announced on 01.06.2022 and as per the time schedule, the counselling process is going to start in July 2022,” the Court said.

“Therefore, if one additional Special Stray Round of counselling is conducted now, as prayed, in that case, it may affect the admission process for NEET-PG-2022.”

The Court found that even after eight to nine rounds of counselling, 1456 seats out of 40,000 remained unoccupied, with more than 1100 of those seats being non-clinical seats that stay unfilled year after year.

The Court ruled that the petitioners are not entitled to a Writ of Mandamus requiring the respondents to conduct a Special Stray Round of counselling to fill the remaining NEET-PG-2021 seats.

“Granting of such relief now may affect the medical education and ultimately the public health,” the Court said and dismissed four separate petitions seeking a similar kind of relief.

The Court further noted that the Union Government/Medical Counselling Committee made the decision not to conduct a second Special Stray Round of counselling, which cannot be considered arbitrary.

One of the petitions requested that the exact number of vacant seats be provided following the completion of the stray vacancy round of AQI and that a Special Stray Round of counselling be held to allow candidates to compete for the vacant seats that remain after the completion of the stray vacancy round of AQI.

Another petition requested that respondents direct respondents to The Medical Consulting Committee and the Union of India to revert the Medical P.G. seats that remained vacant after the AQI stray vacancy round in relation to admissions conducted pursuant to the NEET-PG-2021 examination to State Quotas for allocation through State Mop-Up Rounds. The third and fourth petitions were special leave petitions filed in response to High Court judgments dismissing the writ petitions.

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A recent research of Black women found that growing up in a hazardous neighbourhood was connected with lower sleep in adulthood.

At the ages of 5, 10, and 15, 1,611 Black women in Detroit, Michigan, who participated in the Study of Environment, Lifestyle, and Fibroids, rated their perceived childhood neighbourhood safety. Participants also reported on their sleep duration, quality, and symptoms of insomnia.

According to the findings, people who evaluated their neighbourhood as risky vs safe at each age were more likely to wake up feeling tired as adults. Approximately 60% of women reported sleeping for fewer than seven hours each night and regularly waking up feeling tired during adulthood, whereas 10% had chronic insomnia symptoms.

At ages 5 and 15, being in a dangerous neighbourhood was connected with frequent insomnia symptoms and frequently waking up feeling tired.

Participants who viewed their neighbourhood as hazardous when they were 10 years old had a somewhat greater incidence of both frequent waking up feeling tired and frequent insomnia symptoms in adulthood.

Also Read: Close the blinds during sleep to protect your health

“Due to structural racism and historical practices of redlining as well as contemporary residential segregation, Black/African American children are disproportionately overrepresented in neighbourhoods characterized by concentrated poverty and being unsafe,” said lead author Symielle Gaston, who has a doctorate in epidemiology and is a research fellow with the National Institute of Environmental Health Science.

Gaston added, “Our results suggest that intervening to help make a child’s neighbourhood feel safe, a modifiable target in which both communities and policymakers can intercede, may help prevent other downstream risk factors, namely poor sleep health before it develops and potentially negatively impacts both mental and physical health.”

Gaston added that while addressing neighbourhood safety at any age is important, middle childhood may be an optimal time for safety and sleep interventions since relationships between perceived safety with adulthood sleep were most consistent. She hopes to continue this line of research using objective measures over the life course and in different geographic areas.

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According to a University of Michigan research, point mutations that change the resultant protein sequences are referred to as nonsynonymous mutations, whereas those that do not change the protein sequences are referred to as silent or synonymous mutations.

One-quarter to one-third of protein-coding DNA sequence point mutations are synonymous. Those alterations were often thought to be neutral or nearly so. A recent study utilising the genetic modification of yeast cells reveals that the vast majority of synonymous mutations are extremely detrimental.

They discovered three-letter units in DNA sequences known as codons that designate each of the 20 amino acids that make up proteins, work for which Nirenberg received a Nobel Prize together with two others.

Point mutations are single-letter misspellings in the genetic code that occur on occasion. Nonsynonymous mutations are those that change the resultant protein sequences, whereas silent or synonymous mutations do not change the protein sequences.

One-quarter to one-third of protein-coding DNA sequence point mutations are synonymous. Since the genetic code was deciphered, such alterations have been thought to be neutral or almost so.

However, in a study involving the genetic manipulation of yeast cells in the laboratory and slated for online publication on June 8 in the journal Nature, University of Michigan biologists reveal that most synonymous mutations are extremely detrimental.

According to the research authors, the high non-neutrality of most synonymous mutations, if shown to be true for additional genes and animals, would have major consequences for the study of human disease processes, population and conservation biology, and evolutionary biology.

“Since the genetic code was solved in the 1960s, synonymous mutations have been generally thought to be benign. We now show that this belief is false,” said study senior author Jianzhi “George” Zhang, the Marshall W. Nirenberg Collegiate Professor in the U-M Department of Ecology and Evolutionary Biology.

“Because many biological conclusions rely on the presumption that synonymous mutations are neutral, its invalidation has broad implications. For example, synonymous mutations are generally ignored in the study of disease-causing mutations, but they might be an underappreciated and common mechanism.”

Anecdotal evidence has revealed that certain synonymous mutations are nonneutral in the last decade. Zhang and his colleagues were curious whether such situations were the exception or the rule.

They chose budding yeast (Saccharomyces cerevisiae) to investigate this subject because the organism’s short generation period (approximately 80 minutes) and tiny size allowed researchers to test the impact of a large number of synonymous mutations relatively rapidly, accurately, and easily.

Also Read: A new study reveals that different types of cancer are caused by identical mutations

They employed CRISPR/Cas9 genome editing to create over 8,000 mutant yeast strains, each with a synonymous, nonsynonymous, or nonsense mutation in one of 21 genes selected by the researchers.

They next measured how rapidly each mutant strain reproduced in comparison to the nonmutant strain to determine its “fitness.” Simply expressed, Darwinian fitness refers to the number of children an individual has. In this situation, determining whether the mutations were helpful, detrimental, or neutral was determined by assessing the reproductive rates of the yeast strains.

Surprisingly, the researchers discovered that 75.9% of synonymous mutations were considerably detrimental, whereas 1.3 percent were significantly helpful.

“The previous anecdotes of nonneutral synonymous mutations turned out to be the tip of the iceberg,” said study lead author Xukang Shen, a graduate student research assistant in Zhang’s lab.

“We also studied the mechanisms through which synonymous mutations affect fitness and found that at least one reason is that both synonymous and nonsynonymous mutations alter the gene-expression level, and the extent of this expression effect predicts the fitness effect.”

Zhang said the researchers knew beforehand, based on the anecdotal reports, that some synonymous mutations would likely turn out to be nonneutral.

“But we were shocked by a large number of such mutations,” he said. “Our results imply that synonymous mutations are nearly as important as nonsynonymous mutations in causing disease and call for strengthened effort in predicting and identifying pathogenic synonymous mutations.”

The U-M-led team said that while there is no particular reason why their results would be restricted to yeast, confirmations in diverse organisms are required to verify the generality of their findings.

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As the country sees an increase in COVID infections, the daily infection tally topped 8,000 on Saturday.

According to the Ministry of Health and Family Welfare, India recorded 8,329 new COVID cases in the previous 24 hours, 745 more infections than yesterday. With this increase, the country’s active COVID caseload now stands at 40,370, accounting for 0.09 percent of overall positive cases.

With 3,44,994 tests performed in the past 24 hours, the daily positive rate was 2.41 percent. The weekly positivity rate was measured at 1.75 percent.

According to the health ministry, 4,216 COVID patients recovered in the last 24 hours taking the total number of recoveries from the disease since the onset of the pandemic to 4,26,48,308. The recovery rate stands at 98.69 per cent.

The country has administered more than 194.92 crore (1,94,92,71,111) vaccine doses so far under the nationwide vaccination drive. This has been achieved through 2,49,83,454 sessions.

India has also administered 3,84,33,658 precaution doses to all the beneficiaries so far.

COVID-19 vaccination for the age group 12-14 years began on March 16, 2022. So far, more than 3.50 crore (3,50,34,278) adolescents have been administered the first dose of the COVID-19 vaccine.

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According to a research conducted by the Technion-Israel Institute of Technology, computing occurs in the brain at the single-neuron level, not merely in the interaction between neurons. Each of these cells, it turns out, is a complex calculating machine rather than a simple switch.

This finding has the potential to transform not just our understanding of how the brain functions, but also our understanding of illnesses ranging from Parkinson’s disease to autism. The discoveries are also likely to help develop machine learning by providing ideas for new architectures.

Technion To solve this riddle, Professor Jackie Schiller of the Ruth and Bruce Rappaport Faculty of Medicine and her colleagues analysed the brain at the single-neuron level. They discovered that computing occurs not just in the interplay of neurons (nerve cells), but also inside each individual neuron. Each of these cells, it turns out, is a complex calculating machine rather than a simple switch. This discovery, which was just published in the journal Science, promises to transform not only our knowledge of how the brain functions, but also our understanding of illnesses ranging from Parkinson’s disease to autism. Furthermore, these discoveries are likely to boost machine learning by providing inspiration for new designs.

The main motor cortex of the brain controls movement. In this field, researchers can determine which neuron(s) activate at any one time to cause the movement we perceive. Prof. Schiller’s team was the first to reach even closer, analysing the activity of individual neurons rather of the entire neuron as a whole.

Dendrites are branching extensions found on every neuron. These dendrites make direct contact with the terminals (called axons) of other nerve cells, allowing them to communicate. A signal is sent from the dendrites to the cell body and subsequently through the axon. Dendrite quantity and structure vary widely amongst nerve cells, much as the crown of one tree differs from the crown of another.

Also Read: Brain cell activity determines central nervous system disorder outcomes, research says

The neurons studied by Prof. Schiller’s team were the cortex’s biggest pyramidal neurons. These cells, which are known to be very mobile, feature a dense dendritic tree with numerous branches, sub-branches, and sub-sub-branches. The scientists observed that these branches do more than just forward information. Each sub-sub-branch calculates the information it gets and sends the result to the larger sub-branch. The sub-branch then calculates and passes on the information collected from all of its subsidiaries. Furthermore, several dendritic branchlets can interact with one another to increase the computational output of their total result. As a consequence, each individual neuron performs a difficult computation.

For the first time, Prof. Schiller’s team showed that the neuron is compartmentalised, and that its branches perform calculations independently.

“We used to think of each neuron as a sort of whistle, which either toots, or doesn’t,” Prof. Schiller explains. “Instead, we are looking at a piano. Its keys can be struck simultaneously, or in sequence, producing an infinity of different tunes.”

This intricate symphony in our brains is what allows us to learn and perform an infinite number of distinct, difficult, and exact moves.

Several neurodegenerative and neurodevelopmental illnesses are considered to be connected to changes in neuronal data processing abilities. The dendritic tree has been reported to suffer morphological and physiological alterations in Parkinson’s disease. We realise that the neuron’s capacity to execute parallel processing has been limited as a result of the Technion team’s recent discoveries. It appears that the excitability of dendritic branches is changed in autism, resulting in the various symptoms associated with the illness.

The increased understanding of how neurons operate offers up new study avenues for these and other illnesses, with the intention of alleviating them.

These insights might also serve as a source of inspiration for the machine learning community. Deep neural networks, as the name implies, try to construct software that learns and functions in a manner similar to that of the human brain. Despite the fact that their developments are frequently in the headlines, these networks are unsophisticated in comparison to a real brain. A deeper knowledge of how human brain functions can aid in the construction of more complicated neural networks capable of performing more difficult tasks.

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On Saturday, a fire broke out in the Brahm Shakti Hospital’s Intensive Care Unit (ICU) unit in Rohini, Delhi. A patient is believed to have perished as a result of the fire.

All patients have been successfully retrieved, according to Delhi Fire Service Director Atul Garg, with the exception of one patient who was on a ventilator, who he claimed is thought to have died. To put out the fire, nine fire tenders were dispatched to the Brahm Shakti Hospital.

“A fire broke out at third (ICU ward) of Brahm Shakti Hospital in Rohini. nine fire tenders were rushed. All have been safely rescued except 1 patient who was on the ventilator and is suspected to have died. Fire has been completely doused,” Garg told ANI.

The cause of the fire is not known yet.

Further details into the matter are awaited.

Prime Minister Narendra Modi stated on Friday that the Central government has taken a holistic approach to strengthening the country’s health sector and has attempted to modernise facilities over the previous eight years.

PM Modi inaugurated AM Naik Healthcare Complex and Nirali multi-speciality hospital at Gujarat’s Navsari on Friday. Speaking at the occasion, he said, “During the last eight years, we have emphasised a holistic approach to improving the health sector of the country. We have tried to modernise the treatment facilities and also focus on topics related to better nutrition, a clean lifestyle and preventive health.”

PM Modi had earlier participated in the ‘Gujarat Gaurav Abhiyan’ at Navsari on Friday.

Also Read: Gujarat: PM Modi inaugurates infrastructure development project worth ₹3,050 crore

He emphasised Gujarat’s progress, calling the state’s tremendous development over the previous two decades its “pride.”

Speaking on the occasion, he said, “The rapid development in the state during the last two decades is the pride of Gujarat, development for all and a new aspiration born out of this development. The double engine government is sincerely carrying forward this glorious tradition.”

Prior to becoming Prime Minister in 2014, PM Modi held the distinction of being Gujarat’s longest-standing Chief Minister, serving from October 2001 to May 2014.

Followed Sabka Sath Sabka Vikas: Modi

According to PM Modi, the administration has prioritised the upliftment of the underprivileged during the previous eight years.

“In the last eight years, following the mantra of Sabka Saath, Sabka Vikas, our government has laid the utmost emphasis on the welfare of the poor, on providing basic facilities to the poor,” he added.

On Friday, Prime Minister Narendra Modi inaugurated and lay the foundation stone for a number of development projects totaling Rs 3,050 crores in Gujarat.

According to the Prime Minister’s Office, these initiatives would assist improve the region’s water supply while also increasing connection and making life easier.

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On June 10, Prime Minister Narendra Modi lay the groundwork for a variety of development projects worth ₹3,050 crores in Gujarat. Prime Minister Modi participated in the Navsari Gaurav Abhiyan.

At Nevsari, the project comprised a 500-bed, cutting-edge multispecialty and cancer hospital complex. The multi-specialty and cancer hospitals are part of the eight-acre A.M. Naik Healthcare Complex, which also houses consultants, specialists, nurses, and paramedics. Hostels for students and staff and principals are located close to the schools.

The hospitals, schools, and training centres were established through two trusts established by Naik in 2009. The ‘Niral Memorial Medical Trust’ is dedicated to providing contemporary healthcare to those in need. The ‘Naik Charitable Trust’ promotes education and skill development.

The Nirali Multi-specialty Hospital provides a wide range of treatments, including general medicine, general surgery, cardiology and cardiothoracic surgery, pedkiatrics (including neonatology, onstretics, and gynaecology), orthopaedic, critical, and trauma care. Primary, intermediate, and upper secondary schools were erected in the hamlet of Kharel in south Gujarat, in addition to a hospital and a skill developing centre.

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According to a recent study, COVID patients had a 25% higher chance of acquiring a psychological problem in the months following infection than those who had other respiratory disorders.

Oregon State University researchers matched 46,610 COVID-19 positive people with patients who developed other diseases using data from the National COVID Cohort Collaborative (N3C) to see how COVID-19 influenced mental health outcomes.

The frequencies of psychiatric diagnosis were assessed across two time periods: 21 to 120 days following a COVID diagnosis and 120 days to a year afterwards. The study was confined to people with no past history of mental disease and focused on anxiety and mood problems in particular.

Researchers found that patients with COVID-19 had a 3.8 percent chance of acquiring a psychological condition, compared to 3 percent of those with a different respiratory diagnosis.

“There could certainly be people who are struggling with new things like this, and they need that additional support or push to seek some help,” Lauren Chan, a doctoral student in nutrition in OSU’s College of Public Health and Human Sciences, said in a news release.

“I don’t want to say that every single person who gets COVID is going to have this type of problem, but if you start to have concern for yourself or a family member, it’s not unheard of. You should definitely seek care for yourself or others around you.”

Chan added that an increase in mental health diagnoses poses a threat to a health care system already seeing an uptick in need of psychiatric help.

“We already had struggles in trying to identify a professional to work with, and we’re going to keep having difficulties getting people the care they need,” she said.

The new study adds to a growing body of research on the link between COVID-19 and mental health, which has had a significant impact on children and young people.

According to a recent study conducted by experts at the University of California, San Francisco, over half of young adults in the United States reported mental health symptoms in the middle of the pandemic’s second year.

Nonetheless, the findings of the teams revealed a decrease over the previous year. According to a Centers for Disease Control and Prevention survey, 63 percent of young adults in June 2020 had symptoms of despair or anxiety.

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