Joost Frenkel

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Researchers studied a rare condition called mevalonate kinase deficiency (MKD), which causes recurrent fever and inflammation due to problems with a specific gene. They found that patients have high levels of a protein called IL-18, which triggers other immune responses, specifically increasing a substance called IFN-gamma. This understanding of how MKD inflames the body could lead to new treatments aimed at blocking this harmful response. Who this helps: This helps patients with mevalonate kinase deficiency and their doctors by providing potential new treatment options.

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This study looked at how a teacher's confidence affects their nonverbal communication in the classroom and how that, in turn, influences student interest in the lesson. Researchers analyzed data from 50 teachers and over 1,100 students, finding that when teachers felt confident about engaging their students, they communicated more effectively without words, which then made their teaching seem more enthusiastic. This enthusiasm from teachers led to increased interest from students, both immediately after the lesson and six weeks later, emphasizing the importance of nonverbal cues in teaching. Who this helps: This benefits teachers, as it highlights how their confidence and nonverbal communication can enhance student engagement.

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This study looked at how different groups of people—like caregivers, professionals, and autistic adults—feel about using a robot, called Pepper, to help autistic children recognize and manage their emotions compared to using a tablet. While 58% of participants accepted the robot therapy, most preferred the tablet approach due to its familiarity and ease of use. Understanding these preferences is important because it helps improve future therapies and makes them more effective for children on the autism spectrum. Who this helps: This helps autistic children and their caregivers by informing better therapy options.

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This study investigated how effective and safe colchicine and anti-IL-1 medications are for treating familial Mediterranean fever (FMF) over the long term. Out of 876 patients, about 85% were confirmed to have FMF, and half of them still experienced disease symptoms after several years. Many patients were not taking enough colchicine, and while most reported good treatment adherence, a small portion experienced mild side effects. Who this helps: This research benefits FMF patients and their doctors by providing insights into treatment effectiveness and patient care.

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This study looked at how serious games can help teach clinical reasoning to future healthcare professionals. The research reviewed 19 different games, mostly in simulation and escape room formats, and found that while they often included key steps of clinical reasoning, like understanding the patient and evaluating outcomes, they rarely addressed reflection and goal setting. This is important because effective clinical reasoning is essential for better patient care, and improving how it's taught can enhance healthcare outcomes. Who this helps: This helps healthcare educators and training programs improve how they teach clinical reasoning to students.

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This study looked at how medical students view patient feedback before and after they received training on how to use it effectively during their clinical rotations. Researchers found that while students generally believed in the value of patient feedback and had positive views on the feedback messages received, their perceptions actually became less positive after the training. This is important because it shows that simply receiving feedback isn't enough; students need more help to understand and learn from it well. Who this helps: This helps medical students and educators improve the way patient feedback is integrated into their training.

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This study looked at safety events in patients with autoinflammatory diseases using data from the Eurofever registry, which has been collecting information since 2009. Researchers analyzed reports from 2,464 patients, finding a total of 479 adverse events (AEs) among 275 patients, with 82 considered serious; infections and gastrointestinal issues were the most common problems reported. The findings highlight the importance of tracking safety for treatments in these rare diseases to ensure patient well-being. Who this helps: This benefits doctors and patients with autoinflammatory diseases.

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This study looked at patients with recurrent fevers that don't fit neatly into existing categories, particularly focusing on a common condition called PFAPA and related disorders. Researchers found that many patients displayed a mix of symptoms and some didn’t meet the established criteria for either condition, indicating significant variation in how these illnesses present. This is important because better classification could lead to more accurate diagnoses and treatments, ultimately improving care for these patients. Who this helps: This helps patients with recurrent fevers and their doctors.

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This study focused on improving the training courses for doctors specializing in child and adolescent psychiatry in the Netherlands. Over three years, researchers redesigned these courses to be more flexible and better aligned with practical training needs, ultimately allowing 100% of trainees to access updated content that fits their schedules and learning preferences. This matters because it aims to enhance medical education in smaller specialties, making sure doctors are better prepared for their roles. Who this helps: Patients benefit from having better-trained doctors in child and adolescent psychiatry.

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This study looked at how instructors' body language, like eye contact and gestures, affects students' motivation and enjoyment during online video lectures. They tested 87 participants and found that when instructors displayed strong nonverbal cues, students felt more motivated and enjoyed the lessons more, but it didn’t actually help them learn the material better. Understanding these nonverbal behaviors can help improve the design of instructional videos, making online education more engaging. Who this helps: This helps students and educators in online learning environments.

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This paper studied mevalonate kinase deficiency (MKD), a rare condition that causes inflammation due to genetic mutations. The authors provided new insights and updated recommendations for diagnosing and treating MKD, including describing recent research findings on its causes and potential treatments. Understanding MKD can lead to better care and management of patients with this condition. Who this helps: This benefits patients with mevalonate kinase deficiency and their healthcare providers.

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This research paper discusses how to better involve patients in training healthcare professionals, promoting a more cooperative relationship between patients and providers. It highlights twelve practical tips for incorporating patient input into medical education, emphasizing that patient participation is essential yet often overlooked in larger programs. By implementing these strategies, healthcare schools can create more effective and sustainable partnerships that enhance education for future providers. Who this helps: This benefits patients, healthcare professionals, and medical education programs.

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This study looked at a rare condition called mevalonate kinase (MK) deficiency, which usually involves neurological problems alongside inflammation. Researchers found patients who only had severe neurological symptoms, like difficulties with movement and development, without any signs of inflammation. This suggests that doctors might be missing cases of MK deficiency in patients who don't show typical inflammatory signs but still have neurological issues. Who this helps: This helps patients experiencing developmental delays and movement problems, as well as their doctors in making accurate diagnoses.

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This study looked at how medical students determine whether patients are credible sources of feedback about their performance. Researchers found that students consider factors like a patient's knowledge, reliability, and kindness when making these judgments. They discovered that in clinical settings, students often believe that the goals of treating patients can clash with the aims of receiving feedback, which lowers how credible they see the patients. Who this helps: This helps medical students and educators improve the feedback process from patients.

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This study looked at a specific genetic variant (TNFRSF1A-pR92Q) in patients with autoinflammatory diseases to see how their symptoms and responses to treatment compared to other patients with similar conditions. Researchers examined 361 patients and found that those with the pR92Q variant had their disease start at an older age and showed symptoms similar to another condition called syndrome of undefined recurrent fever (SURF), rather than the more common tumor necrosis factor receptor-associated periodic syndrome (TRAPS). Most patients responded well to steroid treatments, regardless of their specific diagnosis. Who this helps: This helps patients with the TNFRSF1A-pR92Q variant by providing clearer insights into their condition and treatment options.

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This study looked at how medical students understand and learn from the experiences of caregivers who look after children with health issues. Researchers found that students used eight different ways to connect with caregivers, like making inferences from their stories and asking for more information. This is important because improving communication and understanding between medical students and caregivers can lead to better patient care and learning experiences in medical education. Who this helps: This benefits medical students, caregivers, and ultimately pediatric patients.

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This study tested the long-term effects of a drug called canakinumab on people with mevalonate kinase deficiency, a rare genetic condition that causes inflammation and pain. Over 72 weeks, 64% of the patients had no severe flare-ups, down from a previous average of 12 flare-ups per year, and over 90% reported minimal or no disease activity at the study's end. The treatment was shown to be safe, with no new safety issues identified. Who this helps: Patients with mevalonate kinase deficiency.

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This study focused on rare autoinflammatory diseases that are driven by a protein called interleukin-1 (IL-1), specifically looking at conditions like cryopyrin-associated periodic syndromes and others. Researchers created a set of guidelines that include 14 recommendations for diagnosing these diseases, 10 for treatment, and 9 for long-term monitoring. These guidelines aim to improve patient care and outcomes significantly, helping patients manage their conditions better. Who this helps: This helps patients with IL-1 mediated autoinflammatory diseases and their doctors.

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This study focused on improving how doctors diagnose and treat certain rare autoimmune diseases, specifically those related to interleukin-1, such as cryopyrin-associated periodic syndromes and tumour necrosis factor receptor-associated periodic syndrome. The researchers brought together a team of experts who created 14 guidelines for diagnosis, 10 for treatment, and 9 for monitoring these diseases, all based on existing research and expert opinions. This matters because better guidelines aim to enhance patient care and outcomes, helping to provide consistent and effective treatment for these serious conditions. Who this helps: This helps patients with interleukin-1 mediated autoinflammatory diseases, their families, and their healthcare providers.

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In this study, researchers looked at how collaborating with patients and communication students helped sixth-year medical students learn about patient needs while creating educational videos. They found that this approach activated four key learning mechanisms: understanding what information patients want, realizing where those needs come from, seeing things from the patient’s viewpoint, and adapting language to better communicate with patients. This is important because it helps future doctors communicate more effectively with their patients, enhancing the overall quality of care. Who this helps: This benefits medical students and, ultimately, their future patients.

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This study looked at how well and safely stem cell transplants work for patients with Mevalonate Kinase Deficiency (MKD), a rare inflammatory disease. Researchers analyzed data from 9 patients who received transplants; 7 of them fully recovered, and all but one successfully had their body accept the transplant. However, some patients faced serious side effects, and two died from complications related to the procedure. Who this helps: This benefits patients with severe MKD and their doctors considering treatment options.

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This study examined the use of bedside ultrasound to diagnose endophthalmitis, an eye infection that can be difficult to detect. In a case where a patient showed symptoms like eye pain and swelling, the ultrasound helped identify endophthalmitis instead of a more common condition (orbital cellulitis), potentially saving the patient from delays in treatment. This matters because early diagnosis of endophthalmitis can prevent serious complications and improve outcomes. Who this helps: This helps patients with eye infections.

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This study looked at how different genetic variations in patients with a rare disease called TRAPS influence their treatment outcomes. Researchers analyzed data from 226 patients and found that those with severe genetic mutations (group A) had the highest need for intensive treatment, while those with less severe variations (groups B and C) tended to respond better to less aggressive treatments. For example, over 85% of patients receiving anti-IL-1 drugs experienced significant relief, and none developed severe complications from their disease. Who this helps: This information benefits patients with TRAPS and their doctors by guiding more effective treatment strategies based on genetic profiles.

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This study looked at how a specific type of thinking, called deliberate cognitive processing, helps doctors remember important information during patient handoffs—when one doctor transfers care to another. Among 78 pediatric residents, those who actively created contingency plans for patients recalled more inferences (7.24) compared to those who didn’t receive such instructions (3.22), but they remembered slightly fewer specific details (21.1% correct vs. 25.3%). This is important because it shows that while doctors may not remember every detail, they can better understand and interpret patient problems, which ultimately leads to better care. Who this helps: This helps doctors and healthcare teams improve their handoff processes for better patient outcomes.

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Researchers studied a blood test for diagnosing familial Mediterranean fever (FMF), a common genetic disease that causes inflammation and can be difficult to identify due to similar symptoms with other disorders. They tested blood samples from 43 FMF patients and found that the new test could effectively differentiate FMF patients from healthy individuals and those with similar conditions, particularly by measuring levels of specific proteins in the blood. The test also identified patients with severe mutations related to FMF versus those with mutations that are less harmful, potentially improving how FMF is diagnosed and classified. Who this helps: This benefits patients with familial Mediterranean fever and their doctors by providing a clearer diagnostic tool.

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This study looked at how to manage mevalonate kinase deficiency (MKD), a genetic condition that causes repeated inflammation and symptoms like fever and skin rashes. The researchers found that the drug canakinumab is the most effective treatment, helping 35% of patients achieve complete relief from symptoms. Other treatments exist, but they are less supported by research and may be less effective, and canakinumab can be expensive, making it hard for some patients to access. Who this helps: This helps patients with mevalonate kinase deficiency and their doctors in finding effective treatment options.

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This study looked at how certain inflammatory diseases, driven by the IL-1 protein, can evolve from short-term inflammation to chronic conditions that resemble autoimmune diseases. Researchers found that while these diseases typically cause sudden fevers and inflammation, some patients experience long-term symptoms without the usual acute flare-ups. Understanding this progression is important for developing better treatments for affected individuals. Who this helps: This research benefits patients suffering from IL-1 mediated auto-inflammatory diseases.

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Researchers studied how the diabetes drug metformin affects guinea pigs infected with tuberculosis (TB). They found that metformin significantly reduced lung damage from TB by 2.8 times and improved how the immune cells function, even though the animals remained glucose intolerant. This is important because it shows that metformin can help manage TB symptoms and support immune health during chronic infections. Who this helps: This helps patients with TB, especially those with diabetes or metabolic issues.

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This research studied how metformin, a common diabetes medication, impacts the immune system's ability to fight tuberculosis (TB) infections. The findings showed that metformin increases the number of certain immune cells, known as CD8 T-cells, which are better equipped to attack TB bacteria; specific changes included a boost in their energy production and survival. This matters because it suggests that metformin not only helps manage diabetes but also enhances the body’s defense against TB. Who this helps: This benefits patients with type 2 diabetes who are at risk for tuberculosis.

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This study aimed to find out what factors doctors think are important for classifying patients with hereditary periodic fever (HPF) diseases, which include conditions like Familial Mediterranean Fever and Mevalonate Kinase Deficiency. Researchers collected input from 124 and then 162 health professionals through surveys, resulting in lists of important diagnostic features for each condition, with genetic testing being the most crucial factor identified. This work is important because it helps create clearer guidelines for diagnosing these diseases, which can improve patient care. Who this helps: Patients with hereditary periodic fever conditions and their doctors.

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This study focused on creating and testing new ways to classify different types of autoinflammatory recurrent fevers, including hereditary conditions like Familial Mediterranean Fever and non-hereditary conditions like PFAPA. The researchers analyzed data from 360 patients and reached a consensus that they could classify 78% of these patients accurately using the new criteria, which showed very high reliability (up to 98% accurate) in validating the classifications with another group of 1,018 patients. This matters because having clear and accurate classification criteria can help doctors diagnose and treat these conditions more effectively. Who this helps: Patients experiencing recurrent fevers and their doctors.

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This study examined 187 patients with unclear systemic autoinflammatory diseases (SAIDs) to learn about their symptoms, responses to treatment, and any genetic factors involved. Researchers found that patients typically started showing symptoms around age 4, experienced 12 episodes of illness each year lasting about 4 days, and often reported joint pain, muscle pain, and fatigue. Notably, those with specific genetic changes often had family members with similar issues, and while treatments like NSAIDs and corticosteroids worked for many, complete recovery was rare. Who this helps: This information is beneficial for patients with undefined autoinflammatory diseases and their doctors in understanding the condition better and tailoring treatments.

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This study looked at a new method to diagnose systemic autoinflammatory diseases (SAIDs), which are often hard to identify and can lead to serious health issues if not treated early. Researchers developed a sensitive test that can find genetic mutations present in very low amounts, even as low as 1%, and found three patients with these mutations. This is important because it can help doctors diagnose these diseases more accurately and promptly, reducing the risk of organ damage. Who this helps: This helps patients with systemic autoinflammatory diseases and their doctors.

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Bile duct strictures are a common complication after pediatric liver transplant, often requiring repeated procedures. This study tested a structured three-session dilation protocol and found it reduced total drainage time and improved outcomes compared to less systematic approaches. A standardized biliary dilation protocol can spare children multiple interventions.

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This study looked at how glaucoma drainage devices (GDD) affect oxygen levels and the metabolism of fluid in the eyes of rabbits after surgery. Researchers found that the oxygen level in the fluid decreased significantly by about 9 mm Hg in the eyes with the device compared to those without it. These changes can lead to problems like corneal decompensation, so adjusting the design of GDDs might help prevent these issues. Who this helps: This findings benefit patients with glaucoma who might need drainage devices.

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Researchers studied how flexible medical training works in three specialty programs at the University Medical Center Utrecht: anesthesiology, pediatrics, and ophthalmology. They found that while training usually lasts five years, it can be shortened if residents have prior medical experience or show they have mastered certain skills. This flexibility helps residents balance work and personal life while still ensuring they get the necessary training and experience to provide excellent care. Who this helps: This benefits medical residents by allowing them to tailor their training to their needs and experiences.

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This study looked at the safety of certain vaccines in patients taking medications that block interleukin-1 or interleukin-6, as guidelines recommend avoiding live vaccines in these cases due to infection risks. Out of 17 patients surveyed, three had adverse events, including a serious case of pneumonia and a varicella infection after vaccination. Despite some patients experiencing mild disease flare-ups, the overall results do not justify changing current vaccine guidelines. Who this helps: This information benefits doctors and healthcare providers managing patients with auto-inflammatory diseases.

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This study looked at the effectiveness of a drug called canakinumab for treating three rare diseases that cause repeated fevers: familial Mediterranean fever, mevalonate kinase deficiency, and TRAPS. Results showed that 61% of patients with familial Mediterranean fever, 35% of patients with mevalonate kinase deficiency, and 45% of patients with TRAPS had their fever completely resolved after 16 weeks of canakinumab treatment, compared to only 6% of those on a placebo. This matters because it shows that canakinumab can significantly reduce fever episodes in patients who don’t respond to standard treatments, thereby improving their quality of life. Who this helps: Patients suffering from these specific autoinflammatory fever syndromes.

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This study focused on the Autoinflammatory Disease Damage Index (ADDI), a tool designed to measure the damage caused by certain autoinflammatory diseases. Researchers found that the ADDI was reliable and valid, with a high agreement score (0.84) among 37 experts reviewing 110 cases, and it strongly correlated with physician assessments of damage (0.92). This matters because it provides a clear and consistent way to evaluate injury caused by these diseases, which can improve patient care and research outcomes. Who this helps: Patients with autoinflammatory diseases and doctors treating them.

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Researchers created a new tool called the Autoinflammatory Disease Damage Index (ADDI) to measure how much harm autoinflammatory diseases cause to patients’ bodies. After surveying over 40 doctors and including feedback from patients' families, they identified 18 aspects of health that are affected by these diseases, focusing on areas such as kidney health and neurological issues. This tool is important because it helps doctors understand the extent of damage in individual patients and compare treatment outcomes across different studies. Who this helps: This helps patients with autoinflammatory diseases and their doctors.

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This study focused on hereditary recurrent fevers, which are rare diseases causing repeated inflammatory episodes. Researchers analyzed data from 751 patients and identified 149 genetic variants linked to these conditions, detailing symptoms such as the average age symptoms began and the effectiveness of treatments. This information helps doctors understand how specific genetic changes affect patient experiences and can guide better treatment decisions. Who this helps: Doctors treating patients with hereditary recurrent fevers.

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This study looked at 114 patients with Mevalonate Kinase Deficiency (MKD), a rare disease that causes frequent inflammatory episodes starting mostly in early childhood. On average, patients experienced about 12 inflammatory episodes each year, often accompanied by gastrointestinal issues, swollen lymph nodes, and joint pain; 5 patients developed a serious condition called AA amyloidosis, which is higher than previously expected. The findings are important as they provide valuable information on how MKD affects patients and how it can be treated effectively. Who this helps: This helps patients with MKD and their doctors by improving understanding of the disease and treatment options.

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Researchers created and tested a new questionnaire called JAIMAR to help assess children with auto-inflammatory diseases, such as FMF. The study involved 250 children, with parents and patients providing feedback through nearly 180 forms. JAIMAR is designed to be quick and easy to fill out, taking about 15 minutes, and shows strong reliability and validity, meaning it provides meaningful insights into children’s health, including pain levels and overall quality of life. Who this helps: This tool benefits children with auto-inflammatory diseases and their healthcare providers.