Category: 8. Health

  • Lithium deficiency identified as key Alzheimer’s trigger

    Lithium deficiency identified as key Alzheimer’s trigger

    New research from Harvard Medical School shows that natural lithium deficiency in the brain may be a key early factor driving Alzheimer’s disease – which allow for the development of new approaches to preventing and reversing cognitive decline.

    Brain with Alzheimer's


    For years, neuroscientists have argued over what triggers Alzheimer’s disease and why some with brain changes linked to the disease never develop dementia. Now, researchers at Harvard Medical School may have found an answer: lithium deficiency in the brain. 

    Published in Nature, the study outlines that lithium naturally occurs in the brain, protecting it from neurodegeneration and supporting the function of all major brain cell types. After 10 years of research involving mice experiments and analyses of human brain and blood samples, the team discovered that lithium loss is one of the earliest changes leading to Alzheimer’s.

    Senior author Bruce Yankner, professor of genetics and neurology, said, “The idea that lithium deficiency could be a cause of Alzheimer’s disease is new and suggests a different therapeutic approach.” 

    Lithium and Alzheimer’s: the missing link 

    Alzheimer’s affects an estimated 400 million people globally and is characterised by brain abnormalities such as amyloid beta plaques and tau tangles. However, these features do not fully explain the disease, as many people with these changes do not experience cognitive decline. Existing treatments targeting amyloid beta offer only limited benefits.

    The new study shows that amyloid beta deposits bind lithium, reducing its availability and function in the brain. This lithium depletion impacts all major brain cell types and causes Alzheimer’s-like changes in mice, including memory loss.

    The researchers found a novel lithium compound called lithium orotate that escapes binding by amyloid plaques. Treating mice with lithium orotate reversed Alzheimer’s pathology, prevented brain damage and restored memory – at doses one-thousandth of those used in typical lithium therapies.

    Yankner cautions, “You have to be careful about extrapolating from mouse models, and you never know until you try it in a controlled human clinical trial. But so far, the results are very encouraging.”

    Early signs: lithium loss in the human brain

    To study lithium in human brains, the team collaborated with the Rush Memory and Aging Project in Chicago, which provided post mortem brain tissue from people with varying cognitive health.

    Using advanced mass spectroscopy, the researchers measured metals in brain and blood samples and found lithium was depleted early in cognitive decline.

    “Lithium turns out to be like other nutrients we get from the environment, such as iron and vitamin C,” Yankner explained. “It’s the first time anyone’s shown that lithium exists at a natural level that’s biologically meaningful without giving it as a drug.”

    Lithium loss accelerates Alzheimer’s in mice

    In mice fed a lithium-restricted diet, brain lithium dropped to Alzheimer’s-like levels, causing brain inflammation, loss of neuronal connections and cognitive decline. Lithium depletion sped up amyloid plaque formation and tau-like tangles, which activated harmful brain immune cells and worsened memory loss.

    Replenishing lithium with lithium orotate reversed these effects and restored memory even in older mice with an advanced form of the disease. Keeping stable lithium levels early in life prevented Alzheimer’s onset altogether.

    Yankner said, “What impresses me the most about lithium is the widespread effect it has on the various manifestations of Alzheimer’s. I really have not seen anything quite like it all my years of working on this disease.”

    Towards new treatments and prevention

    Previous lithium trials in Alzheimer’s patients showed limited success due to toxicity at high doses. The new research suggests amyloid beta traps lithium, reducing its effectiveness. Lithium orotate avoids this problem and works at extremely low doses without toxicity in mice.

    “One of the most galvanizing findings for us was that there were profound effects at this exquisitely low dose,” Yankner said.

    If confirmed in humans, measuring lithium levels could become a screening tool to identify people at risk for Alzheimer’s who might benefit from early treatment.

    However, Yankner emphasises caution, as lithium is not yet proven safe or effective for preventing neurodegeneration in humans and people should not self-medicate. But remains hopeful:

    “My hope is that lithium will do something more fundamental than anti-amyloid or anti-tau therapies, not just lessening but reversing cognitive decline and improving patients’ lives.”

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  • WHO EMRO | WHO training 49,000 health workers for Pakistan’s first HPV drive to protect 13 million girls from cervical cancer | Pakistan-news

    WHO EMRO | WHO training 49,000 health workers for Pakistan’s first HPV drive to protect 13 million girls from cervical cancer | Pakistan-news

    The introduction of the human papillomavirus vaccine aligns with the World Health Assembly’s Global Strategy to eliminate the third most frequent cancer among women in Pakistan.

    Health workers attend a WHO-led training for the introduction of the HPV vaccine in Punjab, Pakistan. Photo credit: WHO13 August 2025, Islamabad Pakistan – The World Health Organization (WHO) is partnering with the Government of Pakistan to train over 49 000 health workers for the upcoming introduction of the human papillomavirus (HPV) vaccine planned from 15 to 27 September. The campaign will be a historic milestone to prevent cervical cancer in the country, targeting for the first time 13 million girls aged 9 to 14 years across Punjab, Sindh, Islamabad Capital Territory and Pakistan-administered Kashmir.

    Cervical cancer is the third most prevalent cancer among women in Pakistan. With a female population of 73.8 million aged 15 years and older at risk, the country reports over 5 000 new cases of cervical cancer in women annually. Almost 3200 of them (64%) die from the disease. The mortality rate, one of the highest in South Asia, is primarily attributed to delayed diagnoses and limited access to screening programs.

    A recent WHO study conducted across 18 healthcare facilities in Pakistan (2021-2023) documented 1580 cases of cervical cancer, suggesting there is a significant underestimation of the disease burden due to low screening rates and lack of a national cervical cancer registry. Modelling data indicate that, in the absence of vaccination, the cervical cancer disease burden in Pakistan will increase at least 3-fold over the next 7 decades.

    With funding support from GAVI, The Vaccine Alliance, the cascade training sessions will be conducted until the end of August, with a focus on microplanning and essential skills for vaccinators, doctors, social mobilizers, and data entry operators.

    WHO’s support for the campaign also includes technical guidance for the conceptualization, planning, data analysis, readiness assessments and capacity development in close collaboration with partners, the Pakistan Federal Directorate of Immunization (FDI) and its Expanded Programme on Immunization (EPI) at the federal and provincial levels.

    “This HPV vaccination campaign is more than just a public health intervention; it is an investment in the health and potential of our daughters,” said Dr Soofia Yunus, Director General, Federal Directorate of Immunization (FDI). “By embracing this vaccine, Pakistan is taking a big step to protect its future from cervical cancer.”

    The campaign aligns with the World Health Assembly’s Global Strategy for cervical cancer elimination target – that, by 2030, 90% of girls are fully vaccinated with the HPV vaccine by 15 years of age, 70% of women are screened, and 90% of women with pre-cancer or invasive cancer receive treatment.

    “We are witnessing a truly transformative moment for public health in Pakistan. WHO is proud to stand with Pakistan and its Federal Directorate of Immunization in championing this critical health measure, ensuring that every girl has the chance to access lifesaving vaccines and lead a life free from the threat of cervical cancer,” said WHO Representative in Pakistan Dr Dapeng Luo.

    The phased introduction of the HPV vaccine will pave the way for its eventual rollout in other provinces and areas (including Khyber Pakhtunkhwa in 2026, and Balochistan and Gilgit-Baltistan in 2027), further strengthening Pakistan’s routine immunization program. WHO extends its gratitude to Pakistan’s Ministry of Health, the FDI and partners for their unwavering commitment to protect girls from cervical cancer and build a healthier future for all.

    For additional information, please contact:   

    Maryam Yunus, National Professional Officer – Communications, WHO Pakistan,
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    José Ignacio Martín Galán, Head of Communications, WHO Pakistan,
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    About WHO

    Founded in 1948, WHO is the United Nations agency that connects nations, partners, and people to promote health, keep the world safe and serve the vulnerable. We work with 194 Member States in 150+ locations – so everyone, everywhere, can attain the highest level of health. For more information, visit https://www.emro.who.int/countries/pak/index.html. Follow WHO Pakistan on Twitter and Facebook. 


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  • mRNA vaccine shows potent efficacy in gastric cancer

    mRNA vaccine shows potent efficacy in gastric cancer

    Gastric cancer is one of the leading causes of cancer-related mortality worldwide, and peritoneal metastasis, wherein the cancer spreads to the peritoneum or the lining of the abdominal cavity, represents the most common form of recurrence after gastric cancer surgery.

    This form of metastasis is particularly associated with poor survival outcomes, as current first-line treatment options, including anti-PD-1 therapy combined with chemotherapy, have proven ineffective against peritoneal dissemination.

    Immunotherapy presents an attractive option for tackling this challenging condition-more specifically, vaccines that target tumor-specific antigens called neoantigens (neoAgs) are being explored as an option to generate durable antitumor responses in patients, with fewer off-target effects.

    Now, in a study published online in the journal Gastric Cancer on July 31, 2025, a team of researchers led by Professor Kazuhiro Kakimi, Department of Immunology, Kindai University, Faculty of Medicine, Japan, including Dr. Koji Nagaoka, from the same university; Dr. Hidetaka Akita, Graduate School of Pharmaceutical Sciences, Tohoku University; Dr. Keiji Itaka, Center for Infectious Disease Education and Research, Osaka University; and Dr. Tatsuhiko Kodama, Research Center for Advanced Science and Technology, The University of Tokyo, developed a neoAg mRNA (messenger RNA)-based vaccine that shows potent antitumor efficacy against gastric cancer cells, especially in combination with the standard anti-PD-1 therapy.

    This vaccine consists of mRNA encapsulated within lipid nanoparticles (LNPs)-this mRNA is synthesized by in vitro transcription and comprises three linked minigenes, which code for three neoAgs that they previously identified from the mouse gastric cancer cell line YTN16. Once the vaccine was synthesized, they proceeded to test it, both alone and in combination with anti-PD-1 therapy, in various mouse models.

    The results were very promising-firstly, the vaccine induced a higher frequency of neoAg-specific cytotoxic T cells in mice than a similar neoAg-dendritic cell-based vaccine. On testing in a therapeutic setting, mRNA-based vaccination led to tumor regression and eradication in all treated mice, and this effect was enhanced in combination with anti-PD-1 therapy.

    How can we explain the increased antitumor efficacy of this combined treatment? The key lies in how tumor-reactive T cells undergo differentiation within the tumor environment-Prof. Kakimi elaborates that they “progress from a progenitor exhausted state (Texprog), through an intermediate exhausted state (Texint) with strong effector function, and ultimately into a terminally exhausted state (Texterm).

    While treatment with only anti-PD-1 therapy led to an increase in effector (Texint) cells, there was no corresponding increase in the production of the progenitor (Texprog) cells required to sustain these effector cells. In contrast, by combining anti-PD-1 therapy with the vaccine that expands Texprog cells, both populations were increased, resulting in a sustained antitumor effect.

    Most promisingly, the vaccine shows impressive antitumor efficacy against peritoneal metastasis, which has historically been very challenging to treat. The vaccine on its own showed a protective effect in mice that were inoculated intraperitoneally with YTN16 cells. In combination with anti-PD-1 therapy, it was shown to reduce tumor growth even in mice with already established peritoneal metastases.

    These results are especially exciting in the context of the push towards next-generation, ‘personalized’ cancer treatment.

    NeoAgs, derived from individual genetic alterations in each cancer patient, serve as unique immunological targets on tumor cells and represent the key to personalized immunotherapy.”


    Kazuhiro Kakimi, Professor, Department of Immunology, Kindai University

    However, there are some challenges that remain. Prof. Kakimi stated that “Although we observed that these vaccines had remarkable therapeutic efficacy, the greatest challenge lies in identifying the true neoAgs that are recognized and attacked by T cells in vivo.”

    Researchers worldwide, including Prof. Kakimi, are currently striving to improve the process of predicting and identifying these neoantigens. Nevertheless, multiple pharmaceutical companies are betting on the therapeutic potential of these vaccines-for instance, Moderna and BioNTech are conducting clinical trials that utilize various neoAg-based mRNA vaccines in combination with immune checkpoint inhibitors.

    This study demonstrates the immense therapeutic potential presented by personalized cancer vaccines that use mRNA technology, paving the way for the next generation of genome-informed cancer immunotherapy!

    Source:

    Journal reference:

    Nagaoka, K., et al. (2025). Neoantigen mRNA vaccines induce progenitor-exhausted T cells that support anti-PD-1 therapy in gastric cancer with peritoneal metastasis. Gastric Cancer. doi.org/10.1007/s10120-025-01640-8

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  • Research: Women Feel Unsupported After Down Syndrome Screening

    Prenatal screening for Down syndrome (DS) is offered to all pregnant people receiving antenatal care in Great Britain, with the goal of providing relevant impartial information to support their reproductive decisions, but the experiences of parents of children with Down syndrome of undergoing screening are rarely captured in detail.

    Published in the American Journal of Medical Genetics Part A, this largest-of-its-kind study from the UK has revealed serious gaps in the way expectant mothers are supported through prenatal screening for Down syndrome. Showing that many have been left to navigate overwhelming decisions without sufficient information, discussion or emotional support.

    Tamar Rutter, PhD Candidate, University of Warwick and lead author of this study, commented: “Prenatal screening is often how parents first learn about the possibility of their child having Down syndrome, and our research shows the lasting personal impact of the way screening results are communicated to them. At the same time, we found that many expectant parents received limited support to meaningfully consider whether or not to have screening, highlighting the need for care which truly promotes informed choice.”

    The study surveyed over 300 mothers of children with Down syndrome to review the information they received about screening, their experiences of being offered screenings and receiving screening results or of declining screenings.

    One mother, Natalie, whose son Henley was born in 2021, described the pregnancy as “so stressful, with so much negativity, doom and gloom.” She received a high chance result for Down syndrome at 13 weeks. Over the course of her pregnancy, Natalie was offered termination on four separate occasions – often in the absence of balanced information or compassion.

    “The foetal medicine doctor told us our baby would have a poor quality of life and that we should consider the impact on our family. They told us he would be a burden. Henley is now 14 months old. He’s already defied so many of the predictions. He didn’t need any ventilation, and we went home five days after birth” (see Natalie’s full story in Notes).

    For mothers of a baby with Down syndrome in this study, 44% reported receiving neither written nor online information about DS screenings, with 37% reporting insufficient opportunity to discuss screening with healthcare professionals before making their decision. Results given by phone left one mother feeling ‘abandoned with the news’ with ‘no idea where to go next’ and 62% of mothers left the process feeling that they had not received enough information about DS.

    Screening was seen as a routine part of antenatal care despite being optional, with 83% of mothers having this impression and 54% of mothers reporting that they ‘went along with’ initial screening without giving it much thought. 73% reported not feeling pressured despite the routinisation, but a minority still felt pressurised to have screening.

    An anonymous mother reported that: “The possibility of being pregnant with a child with Down syndrome was always framed negatively by professionals; for example, the loaded word ‘risk’ was always used rather than the neutral terms of ‘chance’ or ‘probability.”

    Another anonymous mother said: “I felt pushed into the screening by midwives who kept commenting on me being older and higher risk”.

    Experiences were far from all negative, as the majority (85%) understood the screening was optional, 79% understood that the non-invasive prenatal screening test (NIPT) could not definitely confirm that their baby had DS, and 72% reported having enough time to decide whether to have a screening test. Several mothers highlighted the excellent conversations they had had with healthcare professionals.

    Natalie and Henley’s story echoes the wider findings of the study as not all their experiences were negative: a neurosurgeon at Birmingham Children’s Hospital reassured the couple that many of the earlier predictions could not be known until after birth, and perhaps not for years.

    This research was supported by Down Syndrome UK and Nicola Enoch, Founder and CEO of Down Syndrome UK, said: “I started this charity after my own poor maternity care experience. Sadly, 21 years later, discrimination and ignorance prevail in maternity care. This research is a wake-up call. Expectant parents deserve clear information, time to reflect, and the reassurance that all outcomes are valued. The current system is failing too many families.”

    “We’re calling on the NHS and training bodies to introduce a national pathway to support our expectant parents and compulsory education around supporting them. We have to challenge and change the outdated attitudes and assumptions towards Down syndrome, and to listen and learn from the experiences of our families.”

    /Public Release. This material from the originating organization/author(s) might be of the point-in-time nature, and edited for clarity, style and length. Mirage.News does not take institutional positions or sides, and all views, positions, and conclusions expressed herein are solely those of the author(s).View in full here.

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  • Effectiveness of Sitagliptin and Empagliflozin Combination Therapy in a Patient With Charcot-Marie-Tooth Disease and Comorbid Diabetes Mellitus: A Case Report

    Effectiveness of Sitagliptin and Empagliflozin Combination Therapy in a Patient With Charcot-Marie-Tooth Disease and Comorbid Diabetes Mellitus: A Case Report


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  • Description of patients presenting with mental illness in emergency medical services: a retrospective observational study | Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine

    Description of patients presenting with mental illness in emergency medical services: a retrospective observational study | Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine

    The main findings of this study show that intoxication and suicide threats/attempts are the most common symptoms of patients in the EMS with mental illness. Moreover, one-fifth of those assessed by EMS clinicians were hospitalised. Overall, this seems to be a difficult patient group to triage under the current triage system since four out of ten patients were not assigned a triage colour.

    Previous research conducted in Asia [16] and Scotland [15] has shown that patients who are intoxicated with alcohol and/or drugs are common in the EMS. This was likewise evident in the present study. Holzer and Minder [24] gathered data over ten years, looking at patients who had intoxication as the primary reason for assessment in the EMS, and they found an increase over time by approximately 5% per year. In the present study, patients who were intoxicated stood for the highest number of hospitalisations, although the number is low in relation to the summation of patients assessed due to intoxication. Smith-Bernardin, Kennel and Yeh [25] conducted a study on patients who were intoxicated by alcohol and examined whether the emergency department is the right referral for these patients. They found the sobering centre as a safe alternative to the patients being referred to emergency departments. In Sweden though, sobering centres exist in only six regions but is something being discussed at the government level due to the increasing number of intoxications [26]. In an interview study, patients who use the EMS when intoxicated expressed guilt over using ambulance resources but at the same time, most patients reported an unwillingness to change their alcohol misuse and depend on external support, leading to the continued frequent use of the EMS service [16]. These contradictions of feeling guilty but not accepting care could be explained by the shame and feeling of being judged for alcohol misuse that patients express [27]. One might assume that the suffering these patients experience is due to this conflict of interest. The question remains, however, whether the emergency department is the right level of care for these patients, as being transported to and being in, the emergency department could cause additional stress for the patient. On the other hand, you could assume that it at the same time brings relief as the patients get access to care quickly, which could increase the patient’s sense of safety.

    Another finding that stood out in the present study was suicide threats/attempts, with suicide threats being the most common initial assessment by dispatchers. Worldwide, more than 720,000 people die every year from suicide, and for every suicide, there are many previous threats and attempts [28]. In Sweden, 1617 people were either confirmed to have committed suicide (82%) or suspected of doing so (18%) in 2023 [29]. It is therefore unsurprising that EMS clinicians meet these patients often, something supported by previous research [30, 31]. In many cases, the suicide threats/attempts are in combination with intoxication in intentional ways to try to commit suicide [30, 31]. However, in the present study, not one patient got suicide as an ICD 10 code assigned after EMS assessment, although we can conclude that these patients got “F99 Mental Disorder” as the diagnosis code, as the number is consistent with the number of patients assessed initially due to suicide threat/attempt. These patients did not tend to be admitted to the hospital, based on the findings that none of the patients got suicide ideation or suicide attempt as an ICD 10 code when admitted, which is concerning since, as stated earlier, for every suicide, there are several threats and attempts [28]. Research [32] has also shown that the feeling of hopelessness may be a contributing factor to repeated suicide attempts, which can be interpreted as a desire to be seen and get help, rather than a desire to die. One might assume the suffering these patients experience when calling for help and not receiving care. Patients who called for the EMS while being in a suicidal process describe in an interview study the suffering they are in, in such a vulnerable place, feeling suicidal, and at the same time they struggle with the stigma and fear of being judged [33]. Drawing the conclusion they were coded with “F99 Mental Disorder” and were referred to the emergency department but then not admitted makes you wonder where these patients should receive care, for their suicidal ideation, that is sustainable in the long run, to avoid trips to the emergency departments.

    In line with this, neither intoxication nor suicide threats/attempts seems to be sufficient to allow admission to the hospital, where the present study shows that only one-fifth of the patients referred to the emergency department were admitted to the hospital. However, it is important to clarify that in the present study, we do not know if the patients wanted to be hospitalised. For example, patients who were in a suicidal process described that the most important thing for them was to be seen, heard, and acknowledged as human beings in their suffering and receive validation of their feelings [33]. It still raises the question of whether the emergency department was the right place for referral or where these patients should be referred to have their care needs met. In the present study, approximately 30% of the patients got either Red or Orange as a triage colour, indicating the need for acute care. The other patients got a lower triage colour, indicating there was no need for acute care. Previous research shows that many patients with mental health problems have sought care in primary care but did not receive help for their illness, leading the patients to call for an ambulance [13, 14]. Patients with mental illness describe how important it is to be acknowledged as a person and receive care for their mental illness. When being dismissed, this could increase the suffering [18]. One might assume the helplessness and suffering these patients feel, not receiving the care they need or being admitted anywhere [hospital, primary care]. However, in the present study, the EMS clinicians only referred the patients to primary care in 3% of the cases as most patients were transported to the emergency department. This could be because of a lack of competence and confidence in the EMS clinicians when assessing patients with mental health problems [10, 11], leading the EMS clinicians to play it safe and take the patient to the emergency room for instant care, instead of referring to primary care [34]. It could also be due to the lack of decision support and guidelines regarding where to refer the patient, leaving it up to the EMS clinician to go with their gut feeling and intuition [11]. These factors in combination could be the cause of why patients are referred to the emergency department when there is not always a need for acute care [35]. Another suggestion for why EMS clinicians refer patients to the emergency department when acute care is not always needed is the desire to help these patients as EMS clinicians witness their difficulty with mental health problems and receiving help from primary care and therefore drive the patient to the emergency department in the hope of helping them get the ball rolling [11]. On the other hand, another reason why patients are not referred to the emergency department, as outlined in the previous study, could be because of the difficulty in triaging patients with mental health problems as the current triage system WEST [21] is mainly focused on physical health problems, not mental health problems. The fact that there are no indications for the different triage colours within mental health problems; rather, it states that there are no individual warning signs for mental illness and that the EMS clinicians need to make their own assessment based on the clinical assessment, with special consideration for suicidal thoughts, psychotic symptoms, and aggressivity. This could be why 40% of the patients in the previous study were missing a triage colour or, referred to the emergency department, and then were not admitted; in other words, there is a lack of decision support and guidelines making it hard to assess the patient’s to the right level of care.

    Patients with mental illness are already struggling with stigmatisation in society and describe how they felt ashamed when calling for an ambulance due to mental health problems as they were afraid of not being taken seriously [27]. At the same time, the present study, strengthened by several other studies [13, 14, 17, 35] suggests that the EMS and emergency department are not the right place for these patients. The question remaining is how these patients should receive care and where the EMS clinicians should refer them to alleviate their suffering. This needs to be addressed in future research.

    Method discussion

    When extracting the data from EMS records, one inclusion criterion was that the patients had to be over 13 years old. This age was determined by the fact that, in Sweden, health services consider patients at the age of 13 to be cognitively developed enough to start taking responsibility for care contacts; thus parents have limited access to their medical records. We believe this cognitive development also reflects on their actions and feelings when it comes to mental illness, making over 13 years an age at which we could identify as many patients as possible in as wide an age range as possible.

    During the manual review, 389 patients were excluded for not having mental health problems as the primary focus. These patients were included in the original dataset because they met the inclusion criteria. However, upon manual review, it was found that a patient could have, for example, called an ambulance for a fracture and had a mental illness in their medical history. However, as mental illness had nothing to do with the assessment, they were excluded.

    Strengths and limitations

    The main strength of this study was a large database of 1300 patients assessed specifically for mental illness. It provides a diversity to the data which increases generalisability and reliability. However, a limitation was that mental illness can disguise itself as physical illness. This means there may be an underreporting in the actual statistics of those assessed by the EMS for mental illness, as data were retrieved from specific variables that were directly related to mental illness.

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  • Researchers find CFI deficiency alarmingly high in old order Amish

    Researchers find CFI deficiency alarmingly high in old order Amish

    Researchers from the Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than in the rest of the global population.

    These findings could help clinicians better recognize the disease and develop a standard of care, particularly for Amish patients affected by this disease. The findings were published by the Journal of Allergy and Clinical Immunology.

    CFI deficiency is a genetic disorder that affects the immune system, often resulting in a high likelihood of recurrent bacterial infections, and in some cases, vascular and neuroinflammatory symptoms requiring hospitalization and acute management. In addition to genetic factors, ethnic background or epigenetic influences like lifestyle, environmental exposures, and diet can influence the trajectory of the disease, which is estimated worldwide to affect fewer than one in a million births but as high as 1 in 730 members of the Old Order Amish community.

    The Clinic for Special Children, which provides clinical care to children and adults with complex medical disorders and has a specific focus on the treatment and research of disorders affecting the Old Order Amish and Mennonite communities, was alerted to an Old Order Amish patient at CHOP presenting with acute neuroinflammatory symptoms of unknown cause.

    Rapid exome sequencing identified a variant of unknown significance in the gene CFI, which was found to be the underlying cause of her disease and directed her targeted management and recovery. This case motivated researchers to determine if other members of the Old Order Amish community also harbored this genetic finding, as they share a common genetic heritage, agrarian lifestyle, and environmental exposures. Further investigation found it was quite common and contributed to the disease in multiple Amish individuals.

    The first patient presented with headache, decreased consciousness, and weakness on one side of her body, which an MRI confirmed was due to brain inflammation. She was transferred to CHOP due to the severity of her condition and ultimately needed neurosurgical intervention.”


    Vincent J. Carson, MD, Study Co-Senior Author and Pediatric Neurologist, Clinic for Special Children

    He added, “Rapid exome sequencing, which can provide genetic diagnoses in a matter of days, was done at CHOP and confirmed the diagnosis of CFI deficiency. As a result, she was treated with a specific monoclonal antibody that blocks the complement cascade, called Eculizumab. This resulted in the resolution of the brain inflammation, leading to a full recovery.”

    The Clinic for Special Children knew that patients with Old Order Amish ancestry carried the CFI gene, but did not yet know that a particular variant caused disease. This led to a collaboration between the Clinic for Special Children and CHOP to learn more about the incidence of brain inflammation in CFI deficiency.

    “What started as a case report turned into a population study,” said co-senior study author Neil D. Romberg, MD, an attending physician with the Division of Allergy and Immunology at CHOP. “There is a striking level of enrichment of this genetic variant in the Amish community, and now that our understanding of this disease in this population has been expanded, we can offer personalized treatment plans for these patients to help them recover and get back to a normal life within their community.”

    “There are about 430 genetic disorders that we treat and counting, and since hundreds of thousands of Amish and Mennonites living in this country can trace their ancestry back to about 80 Amish founders and 240 Mennonite effective founders, we know that certain disorders are much more prevalent while others that are more common in the general population rarely affect this community,” said Laura Poskitt, DO, medical director of the Clinic for Special Children. “With the consent of our patient communities, we’ve been able to maintain a database that helps us learn more about genetic variants that may be more common in these patients in particular.”

    When focusing on 11 Amish patients who had this variant, five of the patients had presented with critical neuroinflammatory diagnoses. Those patients recovered with the aid of high dose steroids, and one patient had a clinical response to eculizumab, a monoclonal antibody used to treat several diseases linked to the immune system.

    “We have heard from patients treated for this disease that they’ve been able to recover and get back to being active members of their community, so we want to make sure we can properly identify any potentially affected patient and provide them with effective options for managing this disorder,” said first study author Whitney Reid, MD, an attending physician in the Division of Allergy and Immunology at CHOP. “In speaking with this community, they are asking good questions and want to be involved in ways that can not only help affected Amish but anyone who is impacted by this disease.”

    “Getting to the root cause of the disease is a game changer,” Carson said. “All patients with inflammation of the brain or spinal cord who have Amish heritage should be tested for CFI deficiency. Knowing this allows us to use targeted treatments, such as eculizumab, and change the course of the disease.”

    Source:

    Children’s Hospital of Philadelphia

    Journal reference:

    Reid, W., et al. (2025). Complement factor I deficiency–associated neuroinflammatory disease among Old Order Amish. Journal of Allergy and Clinical Immunology. doi.org/10.1016/j.jaci.2025.06.021 

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  • Cardiologist shares top prevention tips for people in 20s, 30s, 40s to reduce risk of heart attacks and heart disease | Health

    Cardiologist shares top prevention tips for people in 20s, 30s, 40s to reduce risk of heart attacks and heart disease | Health

    Dr Bimal Chhajer, a cardiologist specialising in non-invasive cardiology, highlighted how age affects heart disease prevention tips for every decade of life in a blog on his website, Saaol.com, on January 31, 2025. Also read | Shefali Jariwala death: Cardiologist explains steroids, drug overdose, hormonal therapy can increase heart attack risk

    It’s essential for young people to be aware of these risk factors and take preventive measures to reduce their risk of heart disease.(Pexels)

    How to keep heart safe in 20s

    While in the 20s, most people do not worry much about their body fitness and heart health, this is also the time when lifestyle habits such as diet, exercise, and handling stress are formed, he shared. “If the right habits are developed now, the risk of heart disease can be reduced in the future,” Dr Chhajer shared.

    If you are in your 20s, he suggested you eat a diet rich in fresh fruits, vegetables, whole grains, and proteins, avoid junk food, excess salt, and fried foods, do moderate-intensity physical activity, such as brisk walking, swimming, or cycling, for at least 150 minutes a week, and also try meditation, yoga, or deep breathing techniques to reduce mental stress for a healthy heart.

    What about people in their 30s and 40s?

    Speaking of 30 to 40 years of age (beginning of middle age), the cardiologist listed signs of heart-related problems, such as high blood pressure and changes in cholesterol and blood sugar levels, that may be seen in this decade, and said, “Most people stay away from physical activities due to their careers, families, and other responsibilities. Which harms heart health.”

    Sharing prevention tips for people in 30s and 40s, Dr Chhajer suggested:

    1. General health check-up: Get your blood pressure, cholesterol, and blood sugar checked regularly. If there is any discrepancy, seek treatment at the right time.
    2. Increase physical activity: Instead of going to the gym, try increasing physical activity at home by doing yoga or household chores.

    Note to readers: This article is for informational purposes only and not a substitute for professional medical advice. Always seek the advice of your doctor with any questions about a medical condition.

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  • Intermuscular Fat Is the New Red Flag for CV Disease

    Intermuscular Fat Is the New Red Flag for CV Disease

    Intermuscular fat plays a significant role in the development of cardiovascular disease, said Vicente Javier Clemente-Suárez, PhD, professor of sports sciences at the European University of Madrid, Spain. He urged the scientific community and the public to look beyond traditional metrics like BMI and waist circumference. A recent study published in The Journal of Clinical Endocrinology & Metabolism highlights the risks associated with “patients with apparent normal weight but hidden metabolic risk,” as emphasized by Clemente-Suárez in this interview with El Médico Interactivo, a Medscape Network platform.

    What does the article published in The Journal of Clinical Endocrinology & Metabolism contribute regarding the distribution of body fat and cardiovascular risk?

    This article provides an innovative view on how not only the total amount of body fat but its specific location affects cardiovascular risk. Traditionally, we have focused on abdominal visceral fat as the most dangerous, but this study shows that intermuscular fat also plays a key role in the development of cardiovascular diseases. This finding opens new research lines and highlights the importance of looking beyond BMI and abdominal circumference. In other words, it’s not just about how much weight we have, but how it is distributed within the body, especially in tissues like muscle.

    Why could fat accumulated between muscles be more dangerous?

    It’s a ‘hidden’ type of fat that cannot be seen, but it works very actively at a metabolic level. This fat infiltrating the muscle fibers interferes with muscle function, reduces efficiency, promotes a chronic inflammatory state, and contributes to insulin resistance. Unlike subcutaneous fat, which is more passive, intermuscular fat has a pro-inflammatory effect and is associated with deeper and more silent health deterioration, particularly in metabolic and cardiovascular health, all without necessarily reflecting visible obesity.

    What mechanisms explain the possible relationship between fat in the thighs and cardiometabolic risk?

    Several key mechanisms could explain this association:

    • Chronic low-grade inflammation: Intermuscular fat produces inflammatory cytokines that impair endothelial function and promote atherosclerosis.
    • Insulin resistance: By infiltrating the muscle, this fat affects glucose uptake, potentially triggering glucose metabolism alterations and the development of type 2 diabetes
    • Muscle dysfunction: A muscle infiltrated by fat loses contractile efficiency, reducing physical activity and perpetuating the vicious cycle of physical inactivity and metabolic decline
    • Alteration in hormonal and metabolic signaling: This fat acts as a dysfunctional endocrine organ, disturbing lipid, glucose, and blood pressure balance 

    Who would benefit the most from this finding?

    It may be particularly useful for patients who appear to have normal weight but are at risk of hidden metabolic issues, such as sedentary individuals, those with a family history of diabetes or cardiovascular disease, or those with sarcopenia. It is also relevant for older adults, patients with metabolic syndrome, and postmenopausal women, where intermuscular fat may increase without noticeable changes in body weight. This helps us identify patients who might seem healthy based on conventional measures but have accumulated fat in areas where it has a negative impact on their health.

    Could this study influence how cardiovascular risk is evaluated during consultations?

    Absolutely. This research reinforces the need for a more holistic view of cardiometabolic risk that isn’t limited to measuring weight, waist size, or cholesterol. In clinical practice, this could translate into:

    • Giving more importance to body composition, assessing lean mass and fat mass using bioimpedance or densitometry
    • Encouraging functional evaluation of muscles, especially in older individuals
    • Considering less visible factors like actual physical activity and loss of muscle mass 

    As this evidence becomes more established, it’s likely that in the future, we will incorporate more precise tools to assess this hidden fat, such as MRI or muscle scanning, for certain risk profiles.

    What practical recommendations can be offered from medical consultations to prevent the accumulation of this fat?

    From the perspective of a physician or sports sciences professional, we can recommend:

    • Strength and resistance training: Working on large muscle groups, especially in the legs, is key to preventing fat infiltration in muscles. When activated, it burns fat and keeps the muscles healthy
    • Follow an anti-inflammatory diet: Rich in vegetables, omega-3, fruits, legumes, and avoiding excessive simple sugars and ultra-processed foods
    • Avoid sedentary behavior: Daily walking, using stairs, staying active during work — small daily habits make a big difference
    • Monitor sarcopenia in older adults: Maintaining muscle mass with tailored training and adequate protein intake is crucial after the age of 60 

    As you say, looking beyond BMI and abdominal circumference…

    Indeed, studies like this remind us that cardiovascular and metabolic health cannot be assessed using just a scale or a tape measure. There is fat that isn’t visible but may be silently working to increase our risk. That’s why it’s crucial to move toward personalized medicine, based on muscle tissue quality and active prevention through lifestyle changes.

    This article was translated from El Medico Interactivo

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  • Are Probiotics Helpful in Treating Cardiovascular Issues?

    Are Probiotics Helpful in Treating Cardiovascular Issues?

    As a primary care doctor, you’re often the first clinician that patients trust to discuss cardiac issues. Not only can you assess cardiac symptoms, order diagnostic tests, and refer your patients to a cardiologist but also you can use this front-line role to discuss other ways to treat cardiac concerns.

    During your consultations, you will likely explain the role of healthier eating habits to boost cardiovascular health. If your conversations include using probiotics in a patient’s diet there are specific things patients should know about probiotics and the impact on cardiovascular health.

    Do Probiotics Help Lower Cholesterol or Improve Circulatory Health?

    Probiotics may help the heart in ways we’re just beginning to understand, said Maria Carolina Delgado-Lelievre, MD, assistant professor of medicine at University of Miami Miller School of Medicine, Miami.

    Clinical evidence demonstrates that certain strains of probiotics can reduce risk factors for heart disease, like high blood pressure, high cholesterol, and inflammation. For example, Delgado-Lelievre said, Lactobacillus and Bifidobacterium strains have been shown to reduce inflammatory markers, support better insulin sensitivity, and even help lower low-density lipoprotein (bad) cholesterol and triglycerides in some human and animal studies. “One potential mechanism is through bile salt hydrolase activity — this helps break down bile in a way that reduces how much cholesterol is absorbed into the blood,” she said.

    In some cases, probiotics have also been linked to better blood flow, by helping remove cholesterol plaques in the arteries, she said.

    Best Ways for Patients to Consume Probiotics

    Delgado-Lelievre said that traditional and everyday foods are rich in natural probiotics. These include:

    • Yogurt and kefir (fermented milk drinks)
    • Cheese (certain aged varieties)
    • Miso, tempeh, natto, idli, and dosa (fermented soy or grain-based foods)
    • Sauerkraut, kimchi, pickles (naturally fermented)

    An effective approach could be to ease a patient to probiotics.

    “I always recommend yogurt as a food to eat daily because it has protein and probiotics, mainly when people complain of gastrointestinal issues you can start by trying probiotics to see if they help,” said Sandra Arévalo, MPH, RDN, CDN, CDCES, FAND, a registered dietitian nutritionist and spokesperson for the Academy of Nutrition and Dietetics, who is director of Community Health and Wellness and administrative director of the Jacob’s Family Pride Wellness Center at Montefiore Nyack Hospital in Nyack, New York.

    Should You Recommend a Probiotic Supplement?

    Probiotic supplements can be a good option, especially if someone doesn’t eat many fermented foods. “But not all products are equally effective, and not all strains work the same way,” cautioned Delgado-Lelievre. Because some probiotics are more geared toward gut health, while others may support heart or metabolic function, it’s important to choose wisely, she said.

    Sandra Arévalo, MPH, RDN, CDN, CDCES, FAND

    She recommends patients discuss taking a probiotic supplement with a healthcare provider before starting any supplement, particularly if they have existing conditions like heart disease, diabetes, or are on medications. “A tailored recommendation is often safer and more effective,” she said.

    Who Shouldn’t Take or Eat Foods With Probiotics?

    In certain cases, patients should avoid them. While probiotics are generally safe for healthy people, caution is needed in those with weakened immune systems, such as patients undergoing chemotherapy, transplant recipients, or low birth weight infants. “In rare cases, even nonpathogenic bacteria can lead to infections in vulnerable individuals,” Delgado-Lelievre said. Again, patients should speak to healthcare providers before starting probiotic supplements or even high-dose fermented foods.

    photo of Antonette Hardie
    Antonette Hardie, RN

    It’s widely known how probiotics can help regulate bowel movements, help reduce gas and inflammation, and reduce bloating, said Antonette Hardie, RN, a registered dietitian at Ohio State University Wexner Medical Center in Columbus, Ohio. But she cautioned, although “highly unlikely,” there’s always a thing as too much of anything, including probiotics. “Too many probiotics can cause diarrhea, gas, and bloating while your body adjusts and these likely resolve within a few days or weeks,” Hardie said.

    Manage Expectations for Patients

    Although beneficial, explain to your patients that probiotics “are not a magic pill, but they are a promising ally in cardiovascular health,” Delgado-Lelievre said. “Through their impact on inflammation, blood pressure, cholesterol, and insulin sensitivity, they may help reduce risk factors for heart disease.” 

    So whether through diet or supplements, she said the key is to help your patients make informed choices as probiotics are part of a broader lifestyle approach that puts prevention at the heart of care.

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