MARK E. FAHEY, MD

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The research focused on reducing medication waste in hospitals, specifically through a program called the REcycle Soon-to-Expire Program (RESTEP) created by Houston Methodist. The program successfully decreased waste in the intensive care unit pharmacy, leading to a broader rollout across other departments, promoting better management of resources and reduced environmental impact. This is important as it helps lower costs for healthcare systems while also being more environmentally friendly. Who this helps: This helps patients and healthcare providers by creating a more efficient and sustainable healthcare system.

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This study looked at how to improve the use of genomic testing by pediatricians for children with specific health features or developmental issues. Researchers created a helpful website, a genetic consultation service, and a hands-on teaching clinic. After implementing these tools, requests for genomic tests by pediatricians increased by 227%, and many reported feeling more confident in their skills to discuss testing with parents. Who this helps: This benefits pediatricians and children who may need genomic testing for better health care.

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This research focused on a brain condition called bilateral frontal periventricular nodular heterotopia (PVNH), which involves small lumps of grey matter in the front part of the brain. Out of 32 people studied, 72% had additional brain changes, and 7 experienced mild epilepsy while 13 showed some level of cognitive delay. Identifying genetic causes helped clarify the condition, though only a few specific genetic issues were found, indicating that this type of PVNH differs from other forms and tends to lead to milder symptoms. Who this helps: This helps patients and their families better understand the condition and its implications.

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This study looked at how hospitals managed a shortage of blood culture media bottles to maintain high-quality care for patients. They successfully avoided over 22,000 unnecessary blood cultures in six months and saw a 25% increase in the rate of positive blood cultures while saving almost $200,000. This is important because it shows that with the right strategies in place, hospitals can effectively handle shortages without harming patient care. Who this helps: This benefits patients and healthcare providers by ensuring better use of resources during shortages.

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This study looked at how severe COVID-19 infections in pregnant mothers might affect their babies' development. Researchers found that babies born to mothers with severe COVID-19 had changes in their DNA that could be linked to developmental delays, scoring lower on developmental tests at 12 months of age. Specifically, these babies had over 3,000 significant changes in their DNA compared to babies who were not exposed to the virus, and their development was negatively related to higher levels of certain inflammatory markers in their mothers' blood. Who this helps: This research benefits mothers and healthcare providers by highlighting the potential impact of severe COVID-19 on infant development.

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This study looked at how well neoadjuvant (pre-surgery) radiotherapy works for patients with aggressive colon cancer that is either locally advanced or has come back after initial treatment. Among the patients with locally advanced colon cancer, 90% were able to have surgery, and 81% had clean margins (meaning no cancer left behind). In contrast, only 79% of patients with locally recurrent colon cancer could have surgery, with 66% having no detectable cancer afterwards. Overall, the results highlight ongoing difficulties in treating these challenging cases, and more research is needed to improve patient outcomes. Who this helps: This helps patients with advanced or recurrent colon cancer and their doctors.

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This study tested a new combination treatment for patients with advanced prostate cancer that doesn't respond to standard therapies. Researchers are examining the safety and effectiveness of combining cabazitaxel, a chemotherapy drug, with [Lu]Lu-PSMA-617, which targets cancer cells. By including up to 38 patients and monitoring their treatment outcomes, the aim is to find a dosage that is safe while also looking for any improvements in pain and quality of life over a year. Who this helps: Patients with metastatic castration-resistant prostate cancer.

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This study looked at how to improve genetic testing for children with cerebral palsy (CP) by considering both clinical signs and MRI results. Researchers found that out of 100 children with CP, 21 had a genetic reason for their condition. Certain features, like unusual physical traits and intellectual disability, were more common in these genetic cases, while MRI results often did not match the clinical signs, indicating that better guidelines are needed for when to test for genetics. Who this helps: This helps doctors and healthcare providers determine the best times to recommend genetic testing for children with cerebral palsy.

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This paper discusses cerebral palsy, a lifelong condition that affects movement and posture due to issues in the brain. Researchers found that genetic factors contribute to up to 30% of cases, and in wealthy countries, the rate of cerebral palsy has dropped by 40%, from 2.1 to 1.6 cases per 1,000 live births. The ability to diagnose the condition as early as 3 months old allows for better early intervention, which improves outcomes for both children and their families. Who this helps: This benefits patients with cerebral palsy and their families, as well as healthcare providers.

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This study looked at how brain scans (MRIs) of very preterm infants can help predict their motor skills and thinking abilities by the time they reach 2 years old. Researchers examined MRIs taken both when the babies were very young and again at term age, analyzing the brain structures associated with development. They found that these scans were good indicators of later outcomes, with the early MRIs showing a strong ability to predict issues, helping inform better care decisions for these vulnerable infants. Who this helps: This helps preterm infants and their families by providing earlier insights into developmental outcomes.

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This study looked at how many adults are hospitalized due to Respiratory Syncytial Virus (RSV) across 15 countries from 1992 to 2021. Researchers found that hospitalization rates for adults aged 75 and older were very high, with New Zealand reporting 1,199.8 hospitalizations per 100,000 people for cardiorespiratory issues related to RSV. Understanding RSV's impact on adult health is crucial for developing vaccines and health policies, especially in countries where data was previously lacking. Who this helps: This helps patients, particularly older adults, and healthcare providers by highlighting the importance of RSV awareness and prevention.

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This study examined the factors that influence a specific brain response, called photoparoxysmal response (PPR), in patients undergoing routine EEG tests. Out of 3,475 patients, only 50 (1.44%) showed this response. Key findings revealed that sleep deprivation and certain types of epilepsy greatly increase the likelihood of PPR, particularly in young adults aged 11-30, while taking antiseizure medications reduces the risk. Who this helps: This study helps doctors better understand which patients are at higher risk for photoparoxysmal response during EEGs.

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This study looked at a rare genetic condition called PPP2R1A-related neurodevelopmental disorder, which affects brain development in fetuses. Researchers examined three fetuses with a specific genetic change and found common brain imaging issues, such as underdeveloped structures and enlarged brain areas, in all cases. This research helps to better understand the prenatal signs of this condition, which can lead to early diagnosis and support for affected families. Who this helps: This benefits expectant parents and healthcare providers who can monitor and manage pregnancies involving this genetic disorder.

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This study focused on creating a supportive environment for collaboration between healthcare workers and researchers in a rehabilitation hospital. Over the past 8 years, they found that this approach, known as the Research Accelerator Program, led to more staff getting involved in research and improved productivity in scientific projects. This is important because it helps bridge the gap between clinical practice and research, ultimately leading to better patient care and innovations in treatment. Who this helps: This helps patients by improving rehabilitation practices and outcomes.

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This study looked at the rehabilitation goals set for patients recovering from strokes or living with Parkinson's disease during outpatient therapy sessions. Researchers found that out of 776 goals identified, 73% were related to improving daily activities and social participation, but only a tiny fraction (less than 1%) involved measuring real-life performance directly. This highlights the need for therapy goals to focus more on practical daily activities to better support patients' actual functioning in their everyday lives. Who this helps: This helps patients undergoing rehabilitation and their therapists.

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This study looked at a new way of delivering radiation therapy to patients with adrenal gland metastases, specifically using a technique that combines magnetic resonance imaging with radiation treatment (MRgSBRT). Researchers treated 57 patients and found that after one year, 92% of the treated tumors did not grow back, 52% of patients were still cancer-free, and 78% of patients were alive. This method allowed doctors to safely increase the radiation dose without causing severe side effects, benefiting patients with tumors located near sensitive organs. Who this helps: This helps patients with adrenal gland cancer, especially those whose tumors are near critical organs.

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The study looked at how well doctors could follow new international guidelines to spot cerebral palsy (CP) early in babies at high risk. Out of 597 infants with risk factors, 19% were found to be at high risk for CP, while 57% had normal results. The study matters because finding CP early can lead to better support and treatment for affected children. Who this helps: This helps infants at risk for cerebral palsy and their families.

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The study focuses on a new instrument called CRATER, designed to analyze materials on the Moon's surface. It can accurately measure elements, isotopes, and organic compounds while identifying potentially valuable resources. The instrument is compact, weighing less than 10 kg, and requires minimal power, making it practical for space missions. Who this helps: This benefits astronauts and space agencies planning future lunar missions.

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This study looked at 99 children who experienced developmental regression, which means they lost skills or abilities they had previously gained. It found that 30% had intellectual disabilities, 21% were autistic, and 32% were given a new diagnosis after tests, with exome sequencing proving to be the most effective method, identifying genetic causes in over 51% of investigated cases. These findings matter because they help doctors understand why children regress developmentally and identify underlying genetic issues, which may not have been recognized before. Who this helps: This helps children with developmental regression and their families by providing clearer diagnoses and potential treatment paths.

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This study looked at how hyperventilation (HV) affects the results of brain scans (EEGs) in children and adults. Researchers found that HV significantly improved the detection of absence seizures in children, increasing the chances of finding these issues by more than two times (odds ratio of 2.44). In contrast, HV did not help adults, showing no significant increase in diagnoses (odds ratio of 0.36). This is important because it suggests that while HV can be a valuable tool for diagnosing children with seizure disorders, it may not be needed for adults, making EEGs safer and easier for them in certain situations. Who this helps: This helps pediatric patients and their doctors.

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This study looked at how people improve their ability to do activities compared to how well they actually perform those activities in daily life during rehabilitation for stroke or Parkinson's disease. Researchers followed 156 patients and found that 59% improved in their capacity to do activities but did not show a corresponding improvement in their daily performance. This discrepancy is significant because understanding it can help doctors and patients work together better to improve everyday activity levels after rehabilitation. Who this helps: Patients undergoing rehabilitation for stroke or Parkinson's disease.

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This study looked at how quickly umbilical cord blood cells from donors disappeared from the bloodstream of children with cerebral palsy after they received the cells through an infusion. Researchers found that in 11 out of 12 children, the donor cells were almost completely gone within 3 months, with donor DNA making up only 0.01% to 0.31% of their total DNA, and no serious side effects were reported. This information is important for ensuring the safety of using donor cord blood cells for treating cerebral palsy and could help in future treatments for other conditions. Who this helps: This helps patients with cerebral palsy and their families.

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This study looked at 181 infants born very premature (before 31 weeks) and used MRI scans of their brains to predict how well they would do in terms of movement and thinking skills by age 2. The researchers found strong links between brain structure seen in these early scans and later outcomes, with scores predicting motor and cognitive skills related to brain measurements showing a high level of accuracy (0.86). This is important because it means doctors can use early brain imaging to identify infants at risk and start interventions sooner, potentially improving their development. Who this helps: This benefits premature infants and their families, as well as healthcare providers.

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This study looked at how exposure to the COVID-19 virus during pregnancy affects DNA changes in infants that could relate to brain development. Researchers compared samples from 4 infants whose mothers had COVID-19 to 4 infants whose mothers did not, finding that over 1,900 sites of DNA showed differences due to SARS-CoV-2 exposure. These findings are important because they suggest that maternal COVID-19 infection may impact the DNA of infants in ways that could affect their neurological development. Who this helps: This helps expectant mothers and healthcare providers by highlighting the potential risks of COVID-19 during pregnancy.

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This study looked at children whose mothers had COVID-19 while pregnant to see how it might affect their brain development from birth to their teenage years. The researchers plan to track 170 children exposed to COVID-19 in the womb and 340 children whose mothers did not have the virus, comparing their development and behavior over 15 years. The findings will help us understand if these children are at a higher risk for developmental issues, which is important for healthcare planning and support services. Who this helps: This helps parents, pediatricians, and mental health professionals who care for children affected by COVID-19 during pregnancy.

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Researchers looked at cases of severe hepatitis in children from 2011 to 2022 in Victoria, Australia, particularly during a spike in 2021 and 2022 when many cases were reported globally. They found that while pediatric hepatitis clusters seemed linked to some respiratory viruses, they did not find connections to specific viruses like adenovirus or COVID-19. This finding highlights that even though respiratory viruses can be associated with hepatitis, the cause of the recent outbreaks in children remains unclear. Who this helps: This helps pediatricians and public health officials understand potential links and aids in managing outbreaks.

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This study examined how child neurologists and neurodevelopmental specialists understand the current guidelines for diagnosing cerebral palsy (CP). Out of 164 survey participants, 88% reported uncertainties about applying the 2006 definition of CP, particularly regarding the appropriate age for diagnosis and the meaning of "non-progressive." The researchers found that most professionals believe the definition needs updating to improve consistency in diagnosing CP. Who this helps: This helps patients and their families by promoting earlier and more accurate diagnoses of cerebral palsy.

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This study compared the weekly injections of somatrogon to the daily injections of growth hormone currently used to treat children with growth hormone deficiency. The researchers found that somatrogon could lead to an increase in adult height by 1.87 to 3.66 cm and provide better quality of life, while also saving between €5,699 and €21,974 in treatment costs per patient. This is important because it shows that a weekly injection is not only effective and less burdensome for patients, but also more cost-effective for the healthcare system. Who this helps: This benefits children with growth hormone deficiency and their families, as well as healthcare providers looking for efficient treatment options.

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This study looked at the long-term development of children born after a special surgery for a condition called twin-to-twin transfusion syndrome, where twins share blood through the placenta unevenly. Researchers followed 154 surviving children and found that 31% had some form of developmental impairment, with speech/language issues and attention problems being the most common. The survival rates improved over time, rising from 59% to 73% in the last few years studied, emphasizing the need for ongoing check-ups for these children as they grow. Who this helps: This helps parents and healthcare providers by identifying children who may need extra support and monitoring.

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This research focused on creating a specialized library of important literature for cerebral palsy, a neurological condition affecting many children. The library was built through a collaborative effort that included the submission and review of 101 articles, with 60 of those ultimately included, organized into seven categories based on their significance. This resource is important because it provides doctors, patients, and educators with easy access to the latest information and guidelines for better understanding and managing cerebral palsy. Who this helps: Patients with cerebral palsy and their healthcare providers.

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This study looked at a mobile app called "Goal2Quit," designed for adults with depression who smoke, to see if it could help them quit smoking and reduce depressive symptoms. It involved 150 participants and showed that those using the app reported lower depression levels and significantly higher rates of quitting smoking at different points during the study, with 16% quitting for at least a week by week 12 compared to only 2% in the control group. This matters because it highlights a new way to help people who struggle with both smoking and depression with a solution that can be easily accessed through their phones. Who this helps: Patients with depression who smoke.

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This study looked at how brain metastases—cancer spread to the brain—affect patients with breast cancer, non-small cell lung cancer (NSCLC), and melanoma. Researchers found that breast cancer patients were diagnosed at a younger age (median 57) and had more advanced disease, with 27% having at least five brain metastases compared to 14% of NSCLC and 13% of melanoma patients. They also had shorter overall survival, averaging 9.9 months, while NSCLC and melanoma patients lived longer, indicating that breast cancer patients may need more targeted screening for brain MRIs. Who this helps: This helps patients with breast cancer by identifying those who might benefit from earlier brain MRI screening.

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Researchers studied a new way of using spinal cord stimulation to effectively reduce pain and improve physical function in patients. They found that both methods of intermittent stimulation, with either 30 seconds on and 90 seconds off or 30 seconds on and 360 seconds off, led to almost a 50% decrease in pain intensity and low levels of emotional distress in about 80% of patients over six months. This approach is significant because it provides effective pain relief while using less energy, which helps to extend the life of the stimulation device. Who this helps: This benefits patients with chronic pain seeking non-invasive treatment options.

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This study looked at a rare genetic disorder called ethylmalonic encephalopathy, which can show symptoms similar to a severe bacterial infection (meningococcemia). The researchers found that by using advanced genetic testing, they could identify this disorder quickly—within 60 hours—allowing for timely and effective treatment. This is important because recognizing such rare conditions early can prevent misdiagnosis and lead to better care for affected patients. Who this helps: Patients with rare genetic disorders and their doctors.

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This study looked at the safety of giving stem cells from a child's sibling to treat children with cerebral palsy (CP), a common childhood disability. Twelve kids, ages 1 to 16, received these cord blood cells, and only one serious side effect was noticed, which was manageable. Overall, the treatment appeared safe, but there were no major improvements in motor skills or daily functioning after the infusion compared to where they started. Who this helps: This helps children with cerebral palsy and their families exploring new treatment options.

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Researchers studied the genetic makeup of various rainforest trees in eastern Australia to see how Indigenous peoples may have influenced the spread of these food trees over time. They found five tree species with large fruits that showed strong genetic differences and signs indicating that their current distribution may have been affected by Indigenous people after the extinction of large animals (megafauna). This understanding can help highlight the role of Indigenous practices in shaping our food ecosystem, which is important for preserving biodiversity and cultural heritage. Who this helps: This helps Indigenous communities, conservationists, and food researchers.

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This study looked at the connection between the Apgar score, which measures how well newborns are doing right after birth, and children's development and school performance later on. Researchers analyzed data from over 167,000 infants and found that those with lower Apgar scores (especially scores of 0-3) had significantly worse developmental outcomes and were more likely to perform poorly in school. For example, children with a score of 0-3 were 3.33 times more likely to struggle in grade 3 compared to those with higher scores. Who this helps: This information benefits parents and healthcare providers by highlighting the importance of Apgar scores in predicting future developmental and educational challenges.

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This study looked at the connection between febrile seizures, which are common in young children, and respiratory viruses in Victoria, Australia, over nearly a decade. Researchers found that the risk of febrile seizures increased during the winter months of June to September, with risk ratios showing that factors like Influenza A had a 1.48 times higher risk of triggering these seizures. Understanding this link is important because it can help parents and doctors recognize when young children might be at greater risk for seizures related to viral infections. Who this helps: This helps parents and healthcare providers caring for young children.

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This study looked at a group of patients with unclassified brain disorders that affect white matter, aiming to find their genetic causes. Researchers examined 26 individuals from 22 families and discovered potential genetic explanations in about 68% of the families, identifying nine new genes linked to these disorders. This matters because using broad genetic testing can lead to accurate diagnoses and improve treatment options for patients, as traditional tests would only find half of the cases. Who this helps: This helps patients with unclassified white matter disorders and their families.

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This study looked at the effectiveness of whole-genome sequencing (WGS) as a way to diagnose early-onset dementia in 50 patients. Researchers found that WGS helped identify the genetic cause in 14% of patients and highlighted specific risk factors in an additional 16%. Using this method could speed up the diagnosis process significantly, making it easier for doctors to find answers for their patients. Who this helps: This helps patients with early-onset dementia and their families by providing quicker and more accurate diagnoses.

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This study looked at how well different treatments work for infants with a condition called infantile spasms. Researchers found that 63% of infants stopped having spasms after taking prednisolone as their first treatment, compared to only 28% for vigabatrin and 5.9% for other nonstandard treatments. Overall, 83% of infants responded positively to the UKISS treatment sequence, but many are not receiving the most effective first treatment, highlighting a significant gap. Who this helps: This research benefits infants with infantile spasms and their doctors by providing insight into the most effective treatment options.

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This research focused on children who walk on their toes without any other developmental issues, a condition called idiopathic toe walking (ITW). The study found differences in brain activity between children with ITW and those who walk normally, particularly in areas related to decision-making and sensory processing. This information is important because it may help us understand how children with ITW process sensory information differently, leading to better support and interventions for these children. Who this helps: This helps children with idiopathic toe walking and the specialists working to assist them.

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This study looked at how the nutrition of pregnant women impacts the development of their babies' brains. It found that specific nutrients like folate, iodine, and vitamin D can improve brain development and prevent issues, but taking too much of these nutrients can sometimes cause harm. Understanding these relationships is important because it can guide better nutritional advice for pregnant women, ultimately leading to healthier brain development in their children. Who this helps: This helps pregnant women and their babies.

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Researchers studied how special cells called mesenchymal stromal cells (MSCs) help joint cartilage recover from stress and injury by transferring healthy energy-producing parts called mitochondria to damaged cartilage cells (chondrocytes). They found that under certain stressful conditions, like exposure to specific chemicals or mechanical injury, MSCs can effectively deliver mitochondria to these chondrocytes. This matters because it suggests a new way to develop treatments for osteoarthritis, which currently has no effective drugs to prevent its progression after joint injury. Who this helps: This helps patients suffering from joint injuries and osteoarthritis.

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This study looked at the connection between chilblains, a type of skin condition, and COVID-19 cases in Victoria, Australia. Researchers found that people with confirmed COVID-19 were 5.72 times more likely to have chilblains, and for those suspected of having the virus, the risk was 3.23 times higher. Understanding this link is important for doctors, as it can help them recognize COVID-19 in patients who show these unusual symptoms. Who this helps: Patients with COVID-19 and doctors diagnosing the virus.

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This study looked at febrile seizures, which are common in young children and occur in 2-5% of kids in Western countries. While these seizures are usually harmless, researchers highlighted the importance of understanding the genetic and viral factors that can contribute to them. Knowing these details is crucial for doctors when they assess and treat children who experience fevers and seizures, as well as when they need to explain the condition to worried parents. Who this helps: This information benefits patients, their families, and doctors caring for young children.