Category: Scientific

11-Year-Old with Deafness Cured by Gene Therapy in the USA

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Several studies with this type of therapy are already underway or being planned worldwide.

An eleven-year-old boy who was born deaf can now hear thanks to a special gene therapy, according to American reports.

The boy from Morocco was the first person in the USA to receive gene therapy, which is still in the experimental stage, at a children’s hospital in the metropolis of Philadelphia on the East Coast, reported the New York Times, citing the hospital and the involved companies.

However, the therapy does not mean that the boy can now understand language and speak on his own: he may never be able to do so, the report said. According to the report, the brain has a window for language learning that starts from the second or third year of life. After the age of five, it closes forever.

According to the report, the eleven-year-old has a very rare genetic defect that affects about 200,000 people worldwide. A single mutated gene causes the deafness, which is replaced by an intact version during the therapy.

After completing several months of therapy, the eleven-year-old now has almost normal hearing, according to the New York Times.

Even if he cannot speak or understand speech, it could at least be useful for recognizing traffic or similar situations where he needs to pay attention to sounds. He can now also listen to music.

Several studies with this type of therapy are underway or planned worldwide, the report continues.

After the success with the eleven-year-old, scientists want to use the therapy on younger children. The inner ear is a small, enclosed space, so the gene therapy applied there does not affect cells in other parts of the body, Manny Simons, CEO of the involved company Akouos, told the New York Times.

According to the report, finding a suitable candidate was not easy for a specific reason: most babies born with this form of deafness receive cochlear implants in infancy to be able to hear and are then no longer eligible for such therapy trials.

The boy in question was not in a school in Morocco and learned sign language only in a special school in Barcelona after moving to Spain, according to the New York Times.

The CIF proposes systematic checks on health issues through a manifesto.

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Based on findings and conclusions reached by stakeholders and interested parties in the health sector, a document was prepared.

The Cyprus Integrity Forum (CIF) proposes systematic checks on healthcare issues to prevent corruption tendencies and ensure full transparency in the healthcare system, as outlined in its manifesto “Transparency and Combating Corruption in the GHS.”
 
 
 

The manifesto was drafted based on findings and conclusions reached by stakeholders and interested parties in the healthcare sector during a roundtable discussion focusing on transparency and combating corruption in the General Healthcare System (GHS).

According to the CIF, during the specific discussion, issues were highlighted that raise concerns about the current management of the General Healthcare System (GHS). These issues need to be addressed immediately and effectively before the system collapses financially and in terms of quality.

According to the CIF, the publication of the Commissioner’s reports would contribute to transparency and to combating and reducing abuses, both on the part of providers and beneficiaries.
 

According to the CIF, the publication of the Commissioner’s reports would contribute to transparency and to combating and reducing abuses, both on the part of providers and beneficiaries.

Also, Dr. Hatzichristofis stated that the inadequate and weak oversight exercised by the Health Insurance Organization (HIO), the insufficient oversight of the HIO by the Ministry of Health, the deficient legislation governing oversight and correction of any distortions that nullify provisions of the law, and the ambiguity in interpreting the philosophy are also factors that contribute to the lack of transparency.

The CIF, through its manifesto, observes a lack of quantitative and qualitative control of services in the GHS, specifically noting that “the administrative control of the HIO by the Audit Office of the Republic of Cyprus showed disappointing results in terms of the percentage of control exercised.”

Additionally, it states in the manifesto that there is no control over the quality of diagnostic equipment or medical devices in diagnostic centers, while adding that there is no control over cases of negligence either.

Regarding the issue of corruption within the GESY, the CIF notes in the manifesto that there is a significant laxity in the implementation of the already inadequate legislation and often a violation of control procedures.

Furthermore, the CIF argues that there is no clear calculation for the amounts spent on healthcare, while also emphasizing the need for systematic performance auditing of professionals and facilities providing medical services (Medical Auditing).

The President of the Cyprus Integrity Forum, Marios Skandalis, stated that the manifesto is the result of the collective effort of the majority of healthcare stakeholders in Cyprus to safeguard the “greatest gift” ever given to Cypriot society, that of the General Healthcare System.
 

“We have identified serious issues that require immediate resolution to ensure the financial sustainability, transparency, and high level of services provided within the institution, which is the greatest achievement of the social policy of the Republic of Cyprus since its independence,” he said.

“In her statement, Dr. Christina Giannaki, Director General of the Ministry of Health, said that the development of mechanisms for effective control in the healthcare sector, both within and outside GESY, is imperative. She noted that the competent Ministry recognizes the need for adopting safeguards to ensure proper supervision and monitoring of the system through quality criteria.”
 

“Dr. Giannaki stated that for the control and supervision of the system’s usage by both providers and beneficiaries, in terms of avoiding abuses and ensuring the quality enhancement of healthcare services provided, the introduction of clinical guidelines is required, along with the gradual development of therapeutic protocols, the establishment of quality criteria and performance indicators, as well as the implementation of more effective organizational and control mechanisms. Additionally, incentives and disincentives should be promoted where there is distortion in the supply-demand relationship.”

Source: KYPE

“The technology ‘ally’ of blind pregnant women: How they were able to ‘see’ their unborn babies”

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An unexpected “gift of life” was provided by technology to a 44-year-old mother with vision problems. She managed to “see” her unborn baby through the sense of touch. The new type of ultrasound has a relief form and even combines Braille writing, so blind mothers can experience this milestone in their pregnancy.

Karen Tripp passes her fingers over the relief ultrasound of her baby. Unlike her previous pregnancy, this time she is able to feel all the characteristics of the fetus she is carrying.

Born with a rare eye condition, 44-year-old Karen from England never believed she could experience this touching moment for all future mothers.

“When I was pregnant ten years ago, it was very difficult. Ultrasounds were not a pleasant experience. Because the staff didn’t have the time to explain it to me,” she said.

In the 8th month of her pregnancy, technology, as well as her doctor, gave her the unique “gift” of feeling the image of her unborn baby, beyond just hearing its heartbeat.

Photos of Karen’s baby are included in the “Invisible World” exhibition, hosted for a few days in London, featuring a series of photographs taken by world-renowned photographers, some of whom also have vision problems.

Visitors will thus be able to have a unique tactile experience, designed entirely for people with little or no vision, including relief prints, audio descriptions, and incorporating Braille code.

Edited by Athena Korovesi

Autism – ADHD: What role do microbiota and antibiotics play in their appearance

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The role of the gut appears significant in the emergence of neurodevelopmental disorders in children, according to recent study data published in Cell. Specifically, disrupted gut flora in the early years of life is linked to diagnoses such as autism spectrum disorder (ASD) and Attention Deficit Hyperactivity Disorder (ADHD) later in life, as revealed by the study led by researchers from the University of Florida and Linköping University.

This study is the first prospective study examining the composition of gut flora and a wide range of other factors in infants in relation to children’s neurological system development. Researchers identified many biological markers that appear to be related to future neurodevelopmental disorders such as autism spectrum disorder, ADHD, communication disorder, and intellectual disability.

“The remarkable aspect of the work is that these biomarkers were found at birth in umbilical cord blood or in the child’s feces at the age of one, over a decade before the diagnosis,” said Dr. Eric W Triplett, professor in the Department of Microbiology and Cell Science at the University of Florida in the United States, one of the study’s researchers.

The role of antibiotics

Autism: Turning the focus to parents with spectrum children – A psychologist explains

For the study, more than 16,000 children born between 1997 and 1999 were followed from birth to 20 years of age. Of these, 1,197 children, accounting for 7.3%, were diagnosed with autism spectrum disorder, ADHD, communication disorder, or intellectual disability.

A large number of lifestyle and environmental factors were identified through repeated surveys conducted during the children’s upbringing. For some of the children, researchers analyzed substances in umbilical cord blood and bacteria in their feces at just one year of age.

“We found in the study that there are clear differences in gut flora as early as the first year of life between those who develop ASD or ADHD and those who do not. We found correlations with some factors affecting gut bacteria, such as antibiotic treatment in the child’s first year, which is associated with an increased risk of these diseases,” explained Dr. Ludvigsson, senior professor at the Department of Biomedical and Clinical Sciences at Linköping University, who led the study together with Dr. Triplett.

Children who had recurrent ear infections in their first year of life were at an increased risk of being diagnosed with a developmental neurological disorder later in life. It may not be the infection itself that is the culprit, but researchers speculate that there is a correlation with antibiotic treatment. As they found, the presence of Citrobacter bacteria or absence of Coprococcus bacteria increased the risk of future diagnosis.

A possible explanation is that antibiotic treatment may disrupt the composition of the gut flora in a way that contributes to neurodevelopmental disorders. This risk may increase the likelihood of diseases associated with the immune system, such as type 1 diabetes and pediatric rheumatism, as shown in previous studies.

Other environmental factors

The present study also confirms that the risk of developmental neurological diagnosis in children increases if parents smoke. Conversely, breastfeeding has a protective effect, according to the study. Specifically, from umbilical cord blood samples for the detection of various substances from metabolism, such as fatty acids and amino acids, it was found that children who were later diagnosed had low levels of several important fatty substances in the blood. One of these, linolenic acid, necessary for the formation of omega-3 fatty acids and with positive effects on the brain.

Although the research is in its early stages and involves only a portion of children, and more studies are needed, the discovery that many biomarkers for future neurodevelopmental disorders can be observed at a young age opens up the possibility of implementing long-term preventive measures.

Increase of 115% in kidney patients undergoing dialysis, says the Nephrology Society

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“Increase of 115% in kidney patients undergoing dialysis,” says the Nephrological Society – On the occasion of the second Thursday of March, which has been established globally as World Kidney Day.

An increase of 115% in the number of our fellow citizens undergoing hemodialysis and peritoneal dialysis is observed in our country during this period, according to the Nephrological Society of Cyprus.

In a statement issued on the occasion of the second Thursday of March, which is globally established as World Kidney Day, the Nephrological Society reports that kidney health problems are the 10th leading cause of mortality worldwide, while 1 in 10 people worldwide is affected by chronic kidney disease (CKD), and it is estimated that this number will continue to increase over time.

It is noted that even if only a small percentage of these individuals will require support through methods such as dialysis – such as hemodialysis – or kidney transplantation, in our country, these individuals amount to over 200 per year, a rate of inclusion that remains among the two highest in Europe over the past 10 years.

These rates are almost double the average for Europe and other Mediterranean countries, so “we observe an increase of 115% in the number of our fellow citizens undergoing hemodialysis and peritoneal dialysis in our country during this period. This continuous and prolonged increase in patients with serious kidney health problems is accompanied by a significant economic burden on the healthcare system, which, combined with inadequate planning and timely and proper management of CKD in its initial stages, has led to many shortages in specialized medical and nursing staff, areas that also face shortages globally.”

The message of this year’s World Kidney Day, “Kidney Health for Everyone Everywhere,” becomes even more important, it is noted. With the implementation of the General Healthcare System (GHS), it is added, access to healthcare services, both personal and specialist doctors, has become much easier for most residents of our island.

As stated, with more frequent and regular health checks, our primary goal of combating and timely addressing CKD, as well as other significant diseases that feed it – such as Diabetes Mellitus and Arterial Hypertension – becomes more feasible.

“A simple blood analysis to assess kidney function and glucose, a general urine examination to check for the presence of leukocytes (or albumin) or other signs of kidney damage, as well as blood pressure monitoring are often sufficient for the timely diagnosis and treatment of these diseases. As Diabetes Mellitus and Arterial Hypertension are contributory factors to the progression of CKD and affect more than 50% of the patients who are undergoing extrarenal dialysis therapies, it is also important to combat obesity and excessive salt consumption,” it is added.

In combination with what has already been implemented, the Nephrological Society of Cyprus (NSC) promotes and closely collaborates with the Health Insurance Organization (HIO) to adapt to Cypriot data and implement the guidance of the British National Institute of Clinical Excellence (NICE) for the diagnosis and management of CKD.

This process, it is noted, is now at an advanced stage, and we have already committed as a scientific body to contribute to the training and education of healthcare professionals for their correct use and implementation. We also promote the integration of new drugs into the GHS, whose effectiveness in treating CKD is supported by numerous serious and large clinical studies. The evaluation process of these drugs, it is reported, by the HIO and the Drug Advisory Committee has already begun.

Finally, for those patients reaching the final stage of CKD, it is noted that kidney transplantation offers the best clinical outcomes as well as better survival and quality of life.

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Vision: Where is the suspected location on the body for eye conditions that lead to blindness

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Could the health of the eyes be related to the functioning of the intestine? A recent study reveals a unique correlation and the role played by the gut microbiota

Recent findings create hope that antibiotics could potentially treat certain genetic diseases that can lead to blindness.

For genetic eye conditions that lead to blindness, according to a recent study published in Cell, bacteria that escape from the intestine and “travel” to the retina may also be implicated. Until recently, specialists estimated that the eyes are usually protected by a layer of tissue that bacteria cannot penetrate. Therefore, these results are “unexpected” according to Dr. Martin Kriegel, a microbiome researcher at the University of Münster in Germany, who was not involved in the study. “This is a major shift in the paradigm we knew until now,” he adds.

Inherited diseases of the retina, such as retinitis pigmentosa, affect about 5.5 million people worldwide. Mutations in the Crumbs homolog 1 (CRB1) gene are the primary cause of these diseases, some of which lead to blindness. Previous studies have shown that bacteria are not as rare in the eyes as ophthalmologists previously believed, leading the authors of the study to wonder if bacteria cause diseases of the retina, says co-author Dr. Richard Lee, an ophthalmologist then at University College London.

As Dr. Lee and his colleagues found, mutations in CRB1 weaken the bonds between the cells lining the intestine, in addition to the role they have long observed in weakening the protective barrier around the eye. This conclusion prompted the study’s co-author, Dr. Lai Wei, an ophthalmologist at Guangzhou Medical University in China, to create mice with CRB1 mutations with reduced levels of intestinal bacteria. These mice did not show signs of distortion of the cellular layers in the retina, unlike those with typical gut flora.

Twin: New exoskeleton gives mobility to people with disabilities

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A new robotic exoskeleton could allow individuals who have lost the ability to move their legs to stand up and even walk again. It can also help them walk independently, guiding their movements and keeping them upright as they participate in rehabilitation therapy.

Named Twin, the exoskeleton designed in Italy for the lower body was presented at the Museum of Science and Technology in Milan. It is still in the prototype stage and is being developed by scientists from the Istituto Italiano di Tecnologia (Italian Institute of Technology) and the Istituto Nazionale Assicurazione Infortuni sul Lavoro (National Institute for Insurance against Accidents at Work).

Designed for use by patients with reduced or absent mobility in the lower body, it moves their legs through motors located at the knee and hip joints. These motors are powered by an integrated battery, which is said to last for about four hours of use per one hour of charging. The Twin can be used in three different operating modes. In Walk mode, intended for individuals who cannot use their legs at all, the exoskeleton moves the user’s legs on their behalf and assists them in sitting and standing up. The person still needs to use crutches for balance, as with other assistive exoskeletons.

Retrain mode is for patients who still have some mobility in their lower limbs. It allows them to walk on their own to the extent they can, but provides adjustable assistance when needed. Throughout the process, the exoskeleton guides them towards a predetermined optimal trajectory of leg movement.

Finally, there is TwinCare mode, intended for individuals who have full use of one leg but not the other. In this case, the exoskeleton enhances the movement of the affected leg to match that of the healthy leg. In all three modes, a physiotherapist or the user themselves can adjust walking parameters, such as step length/type and walking speed, using a wirelessly connected Android tablet.

According to its designers, two things that make Twin stand out from similar exoskeletons are the fact that it is made from lightweight materials – aluminum alloy instead of steel, for example – and that it features an articulated design allowing for the removal of components for transport or upgrade.

The 4 early signs – sos that we suffer from vertigo and we don’t know it.

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It can occur at any age. Audiologists share the red “lines” that urgently signal that we should check our ears as soon as possible

While we often believe that hearing loss is something that only happens to much older people, this is not actually true.

According to the National Institute on Deafness and Other Communication Disorders (NIDCD) in the United States, 1 in 8 people aged 12 and older has hearing loss in both ears, and approximately 28.8 million adults in the US could benefit from hearing aids. While difficulty in hearing may be the most obvious sign that we need to check our ears, it is not the only one.

We asked audiologists to share the main signs that it’s time to check our hearing. Here’s what they had to say:

Number 1: We struggle to follow conversations.

If we constantly find ourselves saying “what?” during conversations, it’s probably time to check our ears.

“Terry Zwolan, director of Audiology Access & Standard of Care for Cochlear Americas, says, ‘Making an effort to listen when we talk to others or to continue a conversation is very important. This may include struggling to hear when there is background noise and regularly asking people to repeat what they have said or often mishearing.'”

Number 2: We need to increase the volume of the sound on the television.

Whether others regularly tell us to turn down the volume of the television or we are surprised by the number we see on the volume control, this can be a sign that it’s time to check our hearing.

“We may find ourselves turning up the volume on the television or radio to a level louder than others prefer, or feel that people are mumbling (because of it),” he says.

Number 3: Our ears are ringing.

While ringing in the ears (or tinnitus) isn’t always a sign of hearing loss, it certainly can be at times. “Some people may experience persistent ‘ringing,’ buzzing, pain, or pressure in one or both ears,” says Zvolan. “Also, difficulties hearing from one ear may arise, it may be challenging to distinguish where sounds are coming from, or our own voice may sound different.”

Katie Campbell, an audiologist and Senior Director of Audiology at HearingLife Canada, emphasizes that experiencing symptoms like ringing in the ears is a good reason to consider getting a hearing test. “Ringing in the ears, or tinnitus, is usually associated with situations of hearing loss,” she states. “If it persists for an extended period, it’s a good idea to arrange for a hearing test.”

Number 4: We may struggle to hear the sounds of nature.

If we suddenly find it difficult to hear the sounds of nature, such as birds chirping or rainfall, this could be a red flag, according to Zvolan.

“Lazy eye” may be responsible for metabolic syndrome in adult life, study finds

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A pediatric ophthalmic condition may jeopardize health in adult life, according to a recent study.

Amblyopia, also known as “lazy eye,” manifests during childhood, and its impact could extend into adulthood, causing various dysfunctions. Specifically, children who experience this condition are more likely to develop hypertension, obesity, and metabolic syndrome in adulthood, as well as an increased risk of heart attack, according to a recent study by researchers at University College London.

However, in their publication in eClinicalMedicine, the authors emphasize that although they identified an association, their research does not demonstrate a causal relationship between amblyopia and adverse health outcomes in adulthood.

Konstantinos N. Fellas: Mental Health, a Fundamental Challenge for the EU

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Timely remark by the Senior Vice Rector of the University of Nicosia during an event in Larnaca, where the possibility that Mental Health could be the next Pandemic was emphasized.

“Mental health is one of the most significant challenges for the healthcare systems of EU member states,” emphasized Professor Konstantinos N. Fellas, Senior Vice Rector of the University of Nicosia, in a timely presentation during an event in Larnaca titled “We Can Do Better: Mental Health in the Workplace.” Professor Fellas clarified that according to credible reports, mental disorders, especially depression, constitute a major cause of disability worldwide. According to the World Health Organization, 5% of the global population lives with depression, with women, young people, and the elderly being more susceptible.”

In his presentation on the topic “The Psychosocial Legacy of the Pandemic on Youth,” Professor Fellas initially provided a summary of the frightening and unprecedented impacts of the Covid-19 pandemic that affected large segments of the Cypriot population and severely tested everyone, creating the impression that “we were now trapped in an extended nightmarish ordeal.” He spoke of anger, despair, uncertainty, fear, loneliness, and social exclusion that emerged as a result of the pandemic, while noting that the scientific community had warned about the short-term and long-term consequences on our mental health.

He reminded that a nationwide study conducted in 2022 by the University of Nicosia and the Cyprus Youth Organization revealed various negative emotions prevailing among the youth as a consequence of the pandemic. “A thousand young people aged 14-35 from all over Cyprus participated in the survey. 46% of them reported that their mental health deteriorated due to the pandemic,” he said. Furthermore, he added that 71% of young people aged 14-17 declared that their mental health was adversely affected, while 29% of the same age group expressed the need for psychological support since the beginning of the pandemic.

He didn’t fail to address the negative experiences of LGBTQ+ individuals during the pandemic. “A scientific study by the University of Nicosia and ACCEPT organization documented anxiety, melancholy, depression, loneliness, panic attacks, and suicidal tendencies. They felt ‘disconnected’ from the LGBTQ+ community, admitting that they struggled without this vital support network,” he emphasized.

Professor Fellas spoke about what children, their families, and educational staff faced upon their return to school, emphasizing that school is an ideal space to create bridges of communication and dialogue with children.

“We must speak to them honestly and treat them like young adults. Strengthening the mental resilience of children and cultivating optimistic thoughts and values are collective tasks that undoubtedly require the cooperation not only of educators and parents but the entire school, the relevant ministry, and various relevant bodies to help children adjust to the post-pandemic era,” he suggested. As he pointed out, adequate support from the state, the activation of appropriate structures, and the development of supportive programs are essential to heal the wounds caused by the pandemic.

He elaborated on the harsh consequences of the pandemic not only in Cyprus but worldwide, especially for young people whose lives were disrupted, filled with pervasive fear, forced isolation, imposed loss of their freedoms, sudden disruption of their school routines, distancing from their hobbies, and beloved friends. He concluded his speech by emphasizing that we must make education and training an absolute priority, reevaluating and reconsidering the intended role of the educational system beyond success in examinations, seeking to reconnect education with the mental world of young people.

“The legacy we owe to the new generation is the education to empower young men and women to be autonomous, casting off indifference and disdain, and turning towards cultivating a strong desire for progress and development,” he stressed.

The event where Professor Fellas spoke was organized by the Europe Direct Information Center of Larnaca Municipality and the Delegation of the European Commission in Cyprus, under the patronage of the Member of the European Parliament and rapporteur for the European Year of Skills, Loukas Fourlas.

Source: παιδεία news