Dr. Pfeiffer studies a wide range of health issues, including the effects of pollution on marine ecosystems, the underlying mechanisms of eye diseases like glaucoma, and the genetic basis of heart conditions in children. He uses innovative techniques, such as single-cell profiling, to better understand how specific cells in the eye can be targeted to prevent vision loss. Additionally, he investigates how social factors like food assistance programs affect health outcomes in families, particularly during crises like the COVID-19 pandemic. His research also extends to the diagnosis and treatment of aggressive cancers, emphasizing early detection and efficient management strategies.
Key findings
In a study on green sea urchins, even very low levels of ship wastewater (0.0001%) reduced fertilization rates, impacting future populations.
In a glaucoma model, treatment with vitamin B3 improved mitochondrial function and reduced eye pressure in mutant mice, indicating a potential new treatment pathway.
For patients with well-differentiated neuroendocrine tumors G3, those receiving surgery or targeted therapies had better survival outcomes compared to traditional chemotherapy.
In Costa Rica, nearly 47% of the population had been infected with COVID-19 by December 2021, significantly higher than the previously reported rate of 12%.
A novel computer-aided diagnosis system for inflammatory breast cancer achieved an accuracy rate between 92.3% and 100% in identifying key features from mammograms.
Frequently asked questions
Does Dr. Pfeiffer study eye diseases?
Yes, Dr. Pfeiffer conducts research on glaucoma, investigating how specific treatments can improve eye health and reduce pressure within the eye.
What are the key impacts of Dr. Pfeiffer's environmental research?
His studies reveal how ship pollution can harm marine life, especially in species like green sea urchins, indicating a need for stricter regulations to protect these ecosystems.
Has Dr. Pfeiffer researched cancer treatments?
Yes, he has focused on improving early diagnosis and treatment options for rare cancers, including inflammatory breast cancer and neuroendocrine tumors.
What impact has Dr. Pfeiffer's work had on understanding COVID-19?
His research highlights the long-term health impacts of COVID-19, providing crucial information about the risk of virus transmission in households and vaccine impacts.
Is Dr. Pfeiffer's research relevant to families facing food insecurity?
Absolutely, his studies on food assistance programs analyze their effects on food security, particularly for children in vulnerable households.
Publications in plain English
Very Low Concentrations of Maritime Exhaust Gas Cleaning System Effluent Impair Fertilization and Larval Development in the Green Sea Urchin.
2026
Environmental science & technology
Chen CY, Magnusson K, Pfeiffer R, Dupont S, Granberg ME
Plain English Researchers studied how waste from exhaust gas cleaning systems (EGCS), which are used on ships to reduce air pollution, affects the fertilization and development of green sea urchins. They found that even very low concentrations of this waste (as low as 0.0001%) significantly decreased fertilization success and caused severe developmental issues in the sea urchins, with 100% of larvae showing problems at higher concentrations. This matters because it shows that this kind of waste can harm marine life and potentially disrupt marine ecosystems.
Who this helps: This helps marine biologists, environmentalists, and policy makers focused on ocean health.
Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.
2026
eLife
Tolman N, Li T, Balasubramanian R, Li G, Pfeiffer R +9 more
Plain English This research looked at a specific part of the eye called the trabecular meshwork (TM), which helps control eye pressure and is important in glaucoma. The study found three types of TM cells, with one type (TM3) showing problems in their energy-producing structures called mitochondria. When the researchers treated mice with vitamin B3, it notably prevented increases in eye pressure, suggesting that this vitamin could help protect against glaucoma.
Who this helps: This benefits patients at risk for glaucoma.
Characterization of mammographic markers of inflammatory breast cancer (IBC).
2025
Physica medica : PM : an international journal devoted to the applications of physics to medicine and biology : official journal of the Italian Association of Biomedical Physics (AIFB)
Barkana BD, Ahmad B, Essodegui F, Lembarki G, Pfeiffer R +2 more
Plain English This study looked at how mammograms can help identify inflammatory breast cancer (IBC), a rare and aggressive type of breast cancer that is often missed in diagnosis. Researchers examined mammograms from 20 women and found that those with IBC had noticeably higher breast density and microcalcifications compared to those without the condition. Specifically, there were significant differences in breast density in certain areas (with P-values of 0.0147 and 0.0026) and in microcalcifications (P=0.0472), indicating that these markers can be important for spotting IBC early.
Who this helps: This helps patients, especially those at risk for inflammatory breast cancer, by improving early detection methods.
Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment.
2025
bioRxiv : the preprint server for biology
Tolman N, Li T, Balasubramanian R, Li G, Pfeiffer R +9 more
Plain English This research focused on the trabecular meshwork (TM), an important part of the eye that helps control pressure and is linked to glaucoma. The scientists identified three distinct types of TM cells and found that one type (TM3) showed major problems with its mitochondria, which are essential for energy production. When they treated mice with vitamin B3, it helped improve mitochondrial function and prevented an increase in eye pressure, suggesting that this treatment could be an effective strategy for preventing glaucoma-related damage.
Who this helps: This benefits glaucoma patients by offering a potential new treatment avenue.
Inter- and intra-observer agreement in ultrasound diagnosis of steatotic liver disease: implications for screening in resource-limited settings.
2025
Scientific reports
Spencer-Sandino M, Balakrishnan M, Wynne D, Argirion I, Cook P +6 more
Plain English This study looked at how different doctors agree on diagnosing steatotic liver disease (SLD) using ultrasound images, which is important because SLD is linked to a higher risk of cancer and is usually detected through more expensive methods like liver biopsies. The research found that the agreement between different doctors on ultrasound readings was low, with one radiologist showing only 41% accuracy compared to original readings, while other technicians had better but still limited agreement at about 64%. It's important to have consistent ultrasound interpretations to ensure that patients at high risk, like those with obesity and gallstones, receive timely diagnoses.
Who this helps: Patients with a high risk of liver disease and their healthcare providers.
Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.
2024
PloS one
Owusu-Mensah A, Treat J, Bernardi J, Pfeiffer R, Goodrow R +5 more
Plain English This study focused on two new genetic mutations in the KCNH2 gene, which are associated with a heart condition called Long QT Syndrome. Researchers discovered one mutation in a newborn and another in a 14-year-old girl. They found that these mutations disrupt the normal functioning of heart cells, leading to prolonged electrical signals in the heart, which can increase the risk of dangerous heart rhythms.
Who this helps: This research benefits patients with Long QT Syndrome and their doctors by improving understanding of genetic causes of the condition.
COVID-19 and long-term impact on symptoms and Health-Related Quality of Life in Costa Rica: the RESPIRA cohort study.
2024
BMC infectious diseases
Barboza-Solis C, Fantin R, Hildesheim A, Pfeiffer R, Porras C +10 more
Plain English This study investigated how COVID-19 affects health and quality of life over the long term for people in Costa Rica. It found that individuals who had COVID-19 reported more joint pain, chest tightness, and brain fog compared to those without the virus—specifically, 12.4% reported lower health quality and 8% faced more physical limitations. This matters because it highlights the ongoing struggles many COVID-19 survivors, especially women and those with severe symptoms, face even months after recovering from the virus.
Who this helps: This helps patients recovering from COVID-19 by highlighting the long-term challenges they may experience.
Plain English This study looked at a severe heart condition called dilated cardiomyopathy (DCM) that led to the sudden death of a 1-year-old boy in Mexico. Researchers found two harmful genetic mutations in the child's heart-related genes: one in cardiac actin and another in titin, which are important for heart structure and function. This research highlights the importance of genetic testing for identifying serious heart conditions early, potentially preventing fatalities in other young children.
Who this helps: This helps patients, particularly infants with heart issues, as well as their families and healthcare providers.
Behavioral factors and SARS-CoV-2 transmission heterogeneity within a household cohort in Costa Rica.
2023
Communications medicine
Sun K, Loria V, Aparicio A, Porras C, Vanegas JC +14 more
Plain English This study looked at how COVID-19 spreads within households in Costa Rica by tracking 719 people living in homes with someone who had the virus. They found that 53% of these contacts had been infected at some point, with a household transmission rate of 34%, meaning that about one-third of household members caught the virus from the person who was initially infected. Important findings showed that wearing masks reduced the spread by 67%, and not sharing a bedroom with the infected person lowered the risk even more, by 78%.
Who this helps: This helps families and health officials understand how to reduce COVID-19 transmission at home.
The Association of Supplemental Nutrition Assistance Program Participation and Food Insufficiency among Households with Children in the United States during COVID-19.
2023
The Journal of nutrition
Li Y, Zhang S, Wang L, Lu G, Pfeiffer R +1 more
Plain English This study looked at how participating in the Supplemental Nutrition Assistance Program (SNAP) affected food insufficiency among households with children in the U.S. during the COVID-19 pandemic. It found that about 13.9% of these households faced food shortages, and among those that received SNAP benefits, their chances of experiencing food insufficiency were 12% lower overall. Specifically, Black households that participated in SNAP saw a 29% reduction in food insufficiency, whereas there was no notable impact for Hispanic households.
Who this helps: This research benefits families with children, especially Black households, by highlighting the importance of SNAP in reducing food shortages.
Estimating the cumulative incidence of SARS-CoV-2 infection in Costa Rica: modelling seroprevalence data in a population-based cohort.
2023
Lancet regional health. Americas
Fantin R, Agarwala N, Aparicio A, Pfeiffer R, Waterboer T +11 more
Plain English This study looked at how many people in Costa Rica actually got infected with the virus that causes COVID-19, compared to the official counts, which were likely too low. Researchers found that by December 2021, about 47% of the population had been infected, which is 4 times higher than the reported 12%. In children and adolescents, the real infection rate was even more dramatic, at 11 times the reported figure. This is important because it shows how widely the virus spread, helping public health officials understand the pandemic's impact and plan for future responses.
Who this helps: This information benefits public health officials and policymakers in managing future healthcare needs.
Treatment modalities favoring outcome in well-differentiated neuroendocrine tumors G3.
2023
Frontiers in endocrinology
Hinterleitner M, Pfeiffer R, Trautwein NF, Sipos B, Singer S +6 more
Plain English This study looked at how different treatments affect patients with a rare type of tumor called well-differentiated neuroendocrine tumors G3. Researchers found that patients with advanced NET G3 who had surgery, radiation, or other specific therapies lived longer compared to those who only received traditional chemotherapy. This is important because it shows that less intense treatments can still be effective for patients with these tumors, especially when they have spread to other parts of the body.
Who this helps: This helps patients with neuroendocrine tumors G3 and their doctors in making treatment decisions.
Semi-occlusive management of fingertip injuries with finger caps: A randomized controlled trial in children and adults.
2022
Medicine
Schultz J, Wruck JE, Trips E, Pfeiffer R, Grählert X +4 more
Plain English This study looked at how well a new silicone finger cap works for treating serious fingertip injuries compared to standard film dressings. Out of 20 patients, 90% preferred the finger cap after four weeks, and all patients were satisfied with how their injuries looked. The finger cap was found to be safe and effective, leading to good healing without the need for extra treatments like antibiotics.
Who this helps: This helps patients with fingertip injuries and the doctors treating them.
Gastrointestinal Motility and Response to Levodopa in Parkinson's Disease: A Proof-of-Concept Study.
2022
Movement disorders : official journal of the Movement Disorder Society
Safarpour D, Brumbach BH, Arena M, Quinn J, Diamond S +2 more
Plain English This study looked at how the movement of food through the digestive system affects the way patients with Parkinson's disease respond to the medication levodopa. Researchers found that while there wasn’t a significant difference in digestive movement between patients who responded well to the medication and those who did not, half of the patients with erratic responses had a bacterial overgrowth in their intestines, which could impact their medication's effectiveness. Understanding these connections can help improve treatment for people with Parkinson’s by personalizing how they receive levodopa.
Who this helps: Patients with Parkinson's disease.
Behavioral factors and SARS-CoV-2 transmission heterogeneity within a household cohort in Costa Rica.
2022
Research square
Sun K, Loria V, Aparicio A, Porras C, Vanegas JC +13 more
Plain English This study looked at how COVID-19 spreads among people living in the same household in Costa Rica. Researchers found that 53% of household contacts tested positive for past COVID-19 infections, with the chance of getting the virus from someone in the same household being about 32%. They discovered that wearing masks reduced the risk of transmission by 67%, and sleeping in a separate room from an infected person cut the risk by 78%.
Who this helps: This research helps patients and public health officials understand how to prevent COVID-19 spread in homes.
Imaging Modalities in Inflammatory Breast Cancer (IBC) Diagnosis: A Computer-Aided Diagnosis System Using Bilateral Mammography Images.
2022
Sensors (Basel, Switzerland)
Barkana BD, El-Sayed A, Khaled RH, Helal M, Khaled H +6 more
Plain English This study looked at how to improve the diagnosis of inflammatory breast cancer (IBC), a rare and aggressive type of breast cancer, using computer technology with mammogram images. The researchers found that their computer-aided diagnosis system could accurately identify IBC with an accuracy of 92.3% to 100%, focusing on specific signs like breast skin thickening and nipple retraction. This improvement is important because it can help diagnose IBC earlier, which could lead to better treatment outcomes.
Who this helps: This helps patients with inflammatory breast cancer and their doctors.
Bile acid synthesis, modulation, and dementia: A metabolomic, transcriptomic, and pharmacoepidemiologic study.
2021
PLoS medicine
Varma VR, Wang Y, An Y, Varma S, Bilgel M +21 more
Plain English This study looked at how the body's processing of cholesterol and bile acids relates to dementia, particularly Alzheimer’s disease and vascular dementia. It found that lower levels of certain bile acids (specifically cholic acid and chenodeoxycholic acid) in the blood were linked to more brain damage and faster brain shrinkage in older men. Additionally, using medications that lower bile acid levels did not significantly change the overall risk of dementia, but they may be associated with a higher risk of vascular dementia in men.
Who this helps: This research helps doctors understanding how cholesterol management might influence dementia risk, particularly in older male patients.
Plasma-Induced Heating Effects on Platinum Nanoparticle Size During Sputter Deposition Synthesis in Polymer and Ionic Liquid Substrates.
2021
Langmuir : the ACS journal of surfaces and colloids
Brown R, Lönn B, Pfeiffer R, Frederiksen H, Wickman B
Plain English This study looked at how heating affects the size of platinum nanoparticles when they're made using a method called sputter deposition in different liquids. The researchers found that while the nanoparticles are typically around 2 nanometers wide, increasing the temperature during the process can increase their size by up to 20%. This is significant because controlling the size of these nanoparticles can improve their effectiveness in technologies like fuel cells.
Who this helps: This research benefits scientists and engineers working on fuel cell technologies.
Overlap Arrhythmia Syndromes Resulting from Multiple Genetic Variations Studied in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
2021
International journal of molecular sciences
Treat JA, Pfeiffer R, Barajas-Martinez H, Goodrow RJ, Bot C +3 more
Plain English This study looked at a patient with a serious heart condition caused by multiple genetic mutations that led to an arrhythmia syndrome, specifically Early Repolarization Syndrome (ERS) and Short QT Syndrome (SQTS). The patient had six genetic mutations and experienced heart issues after an electrocution incident. Researchers found that heart cells derived from this patient showed significant abnormalities, including a 60% reduction in a key electrical current vital for proper heart rhythm, which is critical for understanding this condition better and developing treatments.
Who this helps: This research benefits patients with genetic heart conditions and doctors treating them.
Experimental and Numerical Development on Multi-Material Joining Technology for Sandwich-Structured Composite Materials.
2021
Materials (Basel, Switzerland)
Zweifel L, Zhilyaev I, Brauner C, Rheme M, Eckhard G +3 more
Plain English This study explored a new way to join sandwich-structured composite materials quickly and effectively using a patented technology called LiteWWeight. The technique involves inserting a fastener with ultrasonic equipment, which creates a strong connection with a strength of over 500 newtons, and it can do this in just a few seconds without needing to drill holes first. The researchers found that their simulations matched experimental results closely, with an accuracy of 94-99%, which means they can reliably predict how strong these connections will be.
Who this helps: This benefits manufacturers and engineers working with composite materials, improving the efficiency and strength of their designs.
Molecular Pathophysiology of Cardiac Injury and Cardiac Microthrombi in Fatal COVID-19: Insights from Clinico-histopathologic and Single Nuclei RNA Sequencing Analyses.
2021
bioRxiv : the preprint server for biology
Fukuma N, Hulke ML, Brener MI, Golob S, Zilinyi R +20 more
Plain English This study looked at the hearts of 69 people who died from severe COVID-19 to understand why some had heart damage. They found that 70% of the cases showed tiny blood clots (called microthrombi) in the heart, which were linked to higher levels of inflammation in the body. This research highlights the changes in heart tissue that occur during severe COVID-19, helping to explain how the virus can cause serious heart issues.
Who this helps: This research benefits patients recovering from COVID-19 and doctors treating them by providing insights into potential heart complications.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
2020
Circulation
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG +101 more
Plain English This research studied Long QT syndrome (LQTS), a genetic disorder that can cause sudden cardiac death, especially in young people. The team found that about 15% of LQTS risk is linked to common genetic variations, and they identified three specific areas in the genome associated with this condition. This is important because it helps explain why some people with LQTS do not show clear genetic markers but are still at risk, improving understanding and potentially leading to better screening and treatment strategies.
Who this helps: This research benefits patients with LQTS and their families, as well as doctors working to identify and treat this dangerous condition.
Susceptibility to Ventricular Arrhythmias Resulting from Mutations in,, andEvaluated in hiPSC Cardiomyocytes.
2020
Stem cells international
Barajas-Martinez H, Smith M, Hu D, Goodrow RJ, Puleo C +5 more
Plain English The study focused on a type of inherited heart condition causing irregular heartbeats, specifically Brugada and Early Repolarization Syndromes, linked to mutations in three specific genes. Researchers analyzed heart cells, created from the patient and an unaffected family member, and found that the patient carrying all three mutations showed irregular heart activity, while other family members with fewer mutations had no symptoms. These findings highlight how multiple gene mutations can interplay to increase the risk of serious heart issues, particularly in one individual.
Who this helps: This benefits patients with inherited heart conditions and their families, as well as doctors trying to understand these genetic risks.
Parents, Peers, and Musical Play: Integrated Parent-Child Music Class Program Supports Community Participation and Well-Being for Families of Children With and Without Autism Spectrum Disorder.
2020
Frontiers in psychology
Lense MD, Beck S, Liu C, Pfeiffer R, Diaz N +4 more
Plain English This study looked at how a music class for parents and children could help families, especially those with children with autism, participate more in their community. Researchers found that parents of both autistic children and typically developing kids reported positive experiences from the classes, noting stronger family bonds and greater understanding of autism among community members. Specifically, caregivers felt that the program improved their parenting and their children's behavior, showing that music classes can benefit family well-being.
Who this helps: This helps families of children with autism and typically developing children.
Odorous compounds sources and transport from a swine deep-pit finishing operation: A case study.
2019
Journal of environmental management
Trabue S, Scoggin K, Tyndall J, Sauer T, Hernandez-Ramirez G +2 more
Plain English A study looked at the bad smells from pig farms in Iowa to find out where they come from and how they spread. Researchers found that the main sources of these odors include gases like hydrogen sulfide and 4-methylphenol, with some smells detectable as far as 1.5 kilometers downwind from the farm. This matters because it highlights the need for ways to reduce smelly gas emissions, particularly during the handling of manure.
Who this helps: This helps nearby residents and communities affected by the odors from swine farms.
Alcohol and oestrogen metabolites in postmenopausal women in the Women's Health Initiative Observational Study.
2018
British journal of cancer
Playdon MC, Coburn SB, Moore SC, Brinton LA, Wentzensen N +6 more
Plain English This study looked at how alcohol consumption affects hormone levels in postmenopausal women, particularly focusing on estrogen, which is linked to cancer risks. They found that women who consumed alcohol had higher levels of certain estrogens, especially among those using hormone therapy, with specific increases noted for oestrone and oestradiol. This is important because understanding these links can help assess cancer risk related to alcohol intake and hormone replacement therapy.
Who this helps: This helps doctors and researchers better understand cancer risks for postmenopausal women.
Social motor coordination during adult-child interactions.
2018
Annals of the New York Academy of Sciences
Pfeiffer R, Wallace M, Lense M
Plain English This study looked at how adults and young children move in sync during social interactions, like taking turns while playing. Researchers found that while the adults and children sometimes moved together, they mostly followed a pattern of alternating movements, like one person moving while the other waits, indicating they were responding to each other's actions. Understanding this coordination is important because it can help improve social skills in children and lead to better communication in activities like music-making.
Who this helps: This benefits young children and their caregivers by enhancing their interactions and social skills.
Sufficient dimension reduction for censored predictors.
2017
Biometrics
Tomassi D, Forzani L, Bura E, Pfeiffer R
Plain English This research focused on how to analyze 51 inflammatory markers related to lung cancer risk when some of the data is incomplete or limited (censored). The study introduced new methods that directly consider this missing information, leading to more accurate results and better predictions. The findings showed that these improved techniques could significantly enhance the analysis compared to traditional methods, making it easier to identify important links between these markers and lung cancer risk.
Who this helps: This helps doctors and researchers looking to better understand lung cancer risk factors.
Prediagnosis Sleep Duration, Napping, and Mortality Among Colorectal Cancer Survivors in a Large US Cohort.
2017
Sleep
Xiao Q, Arem H, Pfeiffer R, Matthews C
Plain English This study looked at how sleep habits before being diagnosed with colorectal cancer (CRC) affect survival after diagnosis. Among nearly 4,900 CRC survivors, those who slept less than 5 hours a night were found to have a 36% higher risk of dying from any cause and a 54% higher risk of dying specifically from CRC compared to those who slept 7-8 hours. Additionally, taking naps of an hour or more was linked to increased overall and cardiovascular-related deaths, but not specifically CRC deaths.
Who this helps: This helps colorectal cancer survivors and their healthcare providers understand the importance of adequate sleep for improving survival rates.
Kinetics of the Human Papillomavirus Type 16 E6 Antibody Response Prior to Oropharyngeal Cancer.
2017
Journal of the National Cancer Institute
Kreimer AR, Johansson M, Yanik EL, Katki HA, Check DP +13 more
Plain English This study focused on the presence of HPV16-E6 antibodies in people before they were diagnosed with oropharyngeal cancer (OPC). Researchers found that 42.3% of OPC patients had these antibodies compared to only 0.5% of healthy individuals. The results indicate a strong link between these antibodies and the risk of developing HPV-driven OPC, with men showing a 6.2% chance of developing the cancer over ten years if they had the antibodies.
Who this helps: This research benefits patients at risk for oropharyngeal cancer and doctors looking for early detection methods.
Do Aspirin and Other NSAIDs Confer a Survival Benefit in Men Diagnosed with Prostate Cancer? A Pooled Analysis of NIH-AARP and PLCO Cohorts.
2017
Cancer prevention research (Philadelphia, Pa.)
Zhou CK, Daugherty SE, Liao LM, Freedman ND, Abnet CC +2 more
Plain English This study looked at whether aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) can help men with prostate cancer live longer. The researchers found that taking aspirin occasionally or daily for five years or more before being diagnosed with prostate cancer can reduce the risk of dying from any cause by up to 18%. After diagnosis, using aspirin can further lower the risk of dying from any cause by up to 25%.
Who this helps: This information benefits patients with prostate cancer and their doctors by highlighting the potential benefits of aspirin use for overall health.
Coding of significant comorbidities and complications for stroke in rehabilitation.
2017
Health information management : journal of the Health Information Management Association of Australia
Murray J, Pfeiffer R, Scholten I
Plain English This study looked at how well stroke doctors and medical record coders agreed on the diagnoses related to stroke after patients received rehabilitation. The researchers found that the agreement on important diagnoses varied widely, with some, like stroke itself, showing a high agreement (up to 81.9%), while others, like cognitive impairment and dehydration, had much lower agreement. This matters because when stroke diagnoses are recorded inaccurately, it can affect patient care and the allocation of hospital resources.
Who this helps: This benefits stroke patients, their doctors, and hospital administrators.
Effects of low-to-moderate alcohol supplementation on urinary estrogen metabolites in postmenopausal women in a controlled feeding study.
2017
Cancer medicine
Mahabir S, Pfeiffer R, Xu X, Baer DJ, Taylor PR
Plain English This study looked at how low and moderate drinking affects hormone levels in urine among postmenopausal women. Researchers found that drinking 30 grams of alcohol daily for eight weeks slightly decreased one type of estrogen and significantly increased another. This is important because changes in these hormone levels might influence breast cancer risk.
Who this helps: This helps postmenopausal women and their doctors understand the effects of moderate alcohol consumption on hormone levels.
Study protocol for a randomized controlled pilot-trial on the semiocclusive treatment of fingertip amputation injuries using a novel finger cap.
2017
Medicine
Schultz J, Leupold S, Grählert X, Pfeiffer R, Schwanebeck U +5 more
Plain English This research studies a new silicone finger cap designed to treat fingertip amputations in both kids and adults, comparing its effectiveness to traditional film dressings. The trial will include 22 patients, and each participant will use both methods for two weeks before choosing their preferred option. The aim is to find out which treatment is safer and works better for healing, which is important because better treatment options can lead to quicker recovery and better outcomes for people with fingertip injuries.
Who this helps: Patients recovering from fingertip amputations.
The Phenotypic Spectrum of a Mutation Hotspot Responsible for the Short QT Syndrome.
2017
JACC. Clinical electrophysiology
Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH +18 more
Plain English This study focused on a specific mutation linked to short QT syndrome (SQTS), a rare heart condition that can cause dangerous heart rhythms and sudden cardiac death. Researchers examined 18 people from 7 different families with this mutation and found that all experienced some symptoms, with an average heart measurement (QTc interval) of about 313 milliseconds. Treatments included medications that helped some patients, but not all, and seven individuals received devices to help manage their heart rhythms.
Who this helps: This research benefits patients with short QT syndrome and their healthcare providers by improving understanding and treatment options.
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.
2016
Journal of the American Heart Association
Veltmann C, Barajas-Martinez H, Wolpert C, Borggrefe M, Schimpf R +5 more
Plain English This study looked at a common genetic mutation (SCN5A-E1784K) that causes overlapping heart issues, including Long QT Syndrome (LQT3) and Brugada Syndrome (BrS), in a large family. Out of 35 tested family members, 17 had the mutation and showed signs of these heart problems, with 14 needing heart devices for protection, and 5 experiencing dangerous heart rhythms. Understanding this genetic link is important for predicting and managing serious heart conditions in affected individuals.
Who this helps: This helps patients with heart conditions related to the SCN5A mutation and their doctors.
Sleep at baseline and after electroconvulsive therapy in patients with major depression.
2016
Psychiatry research
Göder R, Hinrichsen I, Seeck-Hirschner M, Pfeiffer R, Weinhold SL +3 more
Plain English This study looked at how sleep patterns affect the success of electroconvulsive therapy (ECT) in patients with major depression. Researchers found that after ECT, patients who responded well showed increases in deep sleep and less frequent awakenings, while those who did not respond did not experience the same changes. Notably, higher levels of rapid eye movement (REM) sleep before treatment were linked to a better chance of recovery six months later.
Who this helps: This benefits patients with major depression undergoing ECT and their doctors in understanding factors that influence treatment success.
Classification of amyloid status using machine learning with histograms of oriented 3D gradients.
2016
NeuroImage. Clinical
Cattell L, Platsch G, Pfeiffer R, Declerck J, Schnabel JA +2 more
Plain English This study tested a new machine learning approach to classify brain amyloid levels in images, aiming to improve accuracy and reliability. The researchers found that their method achieved over 96% classification accuracy across different imaging types, which is better than previous methods. This matters because accurately assessing amyloid levels in the brain can help diagnose and monitor diseases like Alzheimer’s more reliably.
Who this helps: Patients with Alzheimer’s and their doctors.
The relationship between obsessive-compulsive symptoms and PARKIN genotype: The CORE-PD study.
2015
Movement disorders : official journal of the Movement Disorder Society
Sharp ME, Caccappolo E, Mejia-Santana H, Tang MX, Rosado L +27 more
Plain English This study looked at how genetic variations in the PARKIN gene relate to obsessive-compulsive symptoms (OCS) in people with early-onset Parkinson's disease and their close relatives. The researchers found that patients with one PARKIN mutation showed about 14 fewer points of OCS compared to those without the mutation, while those with two mutations scored about 24 points lower. Interestingly, among relatives who don’t have symptoms, those with PARKIN mutations tended to show slightly higher OCS scores. These findings suggest that the PARKIN gene may be linked to OCD symptoms, which could help identify early signs of Parkinson's disease.
Who this helps: This helps patients with Parkinson's disease and their families in understanding potential early symptoms.
High prevalence of concealed Brugada syndrome in patients with atrioventricular nodal reentrant tachycardia.
2015
Heart rhythm
Hasdemir C, Payzin S, Kocabas U, Sahin H, Yildirim N +6 more
Plain English This study looked at how common a hidden form of Brugada syndrome (a heart condition) is among patients with a specific type of fast heartbeat called atrioventricular nodal reentrant tachycardia (AVNRT). Researchers found that 27.1% of the 96 patients with AVNRT had hidden Brugada syndrome, compared to only 4.5% in a control group of 66 people without AVNRT. This is important because identifying Brugada syndrome early can help prevent serious heart problems, especially in women who are more likely to have both conditions.
Who this helps: This helps patients with AVNRT, especially women, by identifying potential heart risks.
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
2014
International journal of cardiology
Hu D, Barajas-Martínez H, Terzic A, Park S, Pfeiffer R +17 more
Plain English This study looked at the ABCC9 gene to see if it is linked to Brugada syndrome (BrS) and early repolarization syndrome (ERS), which are conditions that can cause dangerous heart rhythm problems. Researchers found mutations in the ABCC9 gene in 11 men with BrS and discovered that these mutations can significantly affect heart cell function, making certain pathways overly active. This research is important because it helps identify genetic risks for serious heart conditions, which can improve diagnosis and treatment strategies.
Who this helps: This helps patients with Brugada and early repolarization syndromes, as well as their doctors.
Severity of depression and anxiety are predictors of response to antidepressant treatment in Parkinson's disease.
2014
Parkinsonism & related disorders
Moonen AJ, Wijers A, Leentjens AF, Christine CW, Factor SA +13 more
Plain English This study looked at how depression and anxiety levels affect the success of antidepressant treatment in patients with Parkinson's disease. Researchers found that patients with higher depression scores at the start of treatment showed more improvement, while those with high anxiety scores responded less well. Specifically, patients with severe depression saw greater improvement, but those with high anxiety levels struggled to benefit from the treatment.
Who this helps: This research helps patients with Parkinson's disease and their doctors understand how to tailor antidepressant treatment based on individual mental health conditions.
Risk of myeloid neoplasms after solid organ transplantation.
2014
Leukemia
Morton LM, Gibson TM, Clarke CA, Lynch CF, Anderson LA +4 more
Plain English This research looked at cancer risks in people who received solid organ transplants, focusing on blood cancers that originate from myeloid cells. It found that transplant recipients are more likely to develop these cancers, with a 4.6 times higher risk for myelodysplastic syndromes and a 2.7 times higher risk for acute myeloid leukemia. Notably, younger patients and those who received certain medications after their transplants showed the highest risks, and their survival rates after developing these cancers were worse than those of similar patients without transplants.
Who this helps: This information benefits transplant patients and doctors by highlighting the need for careful monitoring for these types of blood cancers.
Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome.
2014
Journal of the American College of Cardiology
Hu D, Barajas-Martínez H, Pfeiffer R, Dezi F, Pfeiffer J +19 more
Plain English This study looked at genetic mutations in a gene called SCN10A and how they relate to Brugada syndrome (BrS), a condition that can lead to sudden cardiac death. Researchers found that 17 out of 150 people with BrS had mutations in SCN10A, which is about 16.7% of the patients studied. Those with SCN10A mutations experienced more severe symptoms and had longer heart electrical intervals compared to those without these mutations, highlighting the gene's role in this serious heart condition.
Who this helps: This research benefits patients with Brugada syndrome and their families by improving genetic testing and risk assessment.
Retinal prosthetics, optogenetics, and chemical photoswitches.
2014
ACS chemical neuroscience
Marc R, Pfeiffer R, Jones B
Plain English Researchers studied three technologies aimed at restoring sight to people who are severely blind due to retinal diseases: retinal prosthetics, optogenetics, and chemical photoswitches. They found that while retinal prosthetics are the only currently available solution, providing some navigational ability, optogenetics offers the potential for high-resolution vision but faces challenges in implementation. The new chemical photoswitches can activate retinal cells quickly after injection, possibly paving the way for a simple and effective therapy that could restore good vision.
Who this helps: This benefits profoundly blind patients by providing them with new options for vision restoration.
A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.
2014
PloS one
Hennessey JA, Boczek NJ, Jiang YH, Miller JD, Patrick W +8 more
Plain English This study examined a genetic mutation in the CACNA1C gene, which affects a specific calcium channel in the heart, in a Filipino boy with heart rhythm problems and developmental issues. The boy showed significant heart rhythm abnormalities, including a dangerously prolonged QT interval of 520 milliseconds and recurrent episodes of a specific kind of fast heartbeat (ventricular tachycardia). The researchers found that the mutation led to an increased flow of calcium through the channel, which can raise the risk of dangerous heart rhythms.
Who this helps: This research benefits patients with rare genetic heart disorders and their doctors by improving understanding of the underlying mechanisms of their conditions.
Charles Antzelevitch Dan Hu Hector Barajas-Martinez Allan Hildesheim Carolina Porras Arturo Abdelnour Amada Aparicio Viviana Loria D Rebecca Prevots Rolando Herrero
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Plain-English summaries generated by AI.
Not medical advice.