Gabriele A Vassallo studies the impact of alcohol use disorder (AUD) on both physical and mental health. He explores how conditions like liver disease and diabetes are complicated by issues related to alcohol consumption, investigating new treatments and therapeutic strategies. His research also extends to understanding burnout among healthcare providers, particularly in high-stress environments such as during the COVID-19 pandemic. Techniques such as fecal microbiota transplantation for diabetes and various treatment options for AUD, including medication and personalized strategies, are central to his work.
Key findings
In a study, 37.2% of young Italian internists reported experiencing burnout, particularly those working long hours or in university hospitals.
Fecal microbiota transplantation improved insulin sensitivity in type 2 diabetes patients, but outcomes depended on individual gut bacteria profiles.
Sodium oxybate treatment led to an average of 43.1 more days of sobriety in alcohol-dependent patients compared to those taking a placebo in a trial with 314 participants.
Nearly half (46.5%) of heavy drinkers reduced their alcohol consumption after six months of treatment, showing marked improvement in heart function.
Patients with alcohol-related liver disease showed weakened immune systems with higher susceptibility to infections, emphasizing the need for effective antibiotic treatment.
Frequently asked questions
Does Dr. Vassallo study alcohol use disorder?
Yes, he focuses on various aspects of alcohol use disorder, including treatments and its impact on physical health.
What treatments has Dr. Vassallo researched for alcohol dependence?
He has researched sodium oxybate, baclofen, and various combinations of biological and psychological strategies for treating alcohol dependence.
Is Dr. Vassallo's work relevant to diabetes patients?
Yes, he has studied how fecal microbiota transplantation can improve gut health and blood sugar control in diabetes patients.
What can be done about burnout in healthcare professionals?
Dr. Vassallo's research highlights the significant prevalence of burnout and emphasizes the need for support systems and measures to improve job satisfaction among healthcare providers.
How does Dr. Vassallo's research help patients with liver disease?
His work provides insights into the effects of alcohol on liver health and highlights the importance of early treatment strategies for better outcomes.
Publications in plain English
Navigating new norms: Addiction specialists' perspectives on opioid use disorder treatments and policy challenges in the fentanyl era.
2025
The American journal on addictions
Weleff J, Christian NJ, Wang JX, Singh M, De Aquino JP +2 more
Plain English This study surveyed addiction specialists about how the rise of strong synthetic opioids like fentanyl has changed the way they treat opioid use disorder (OUD). The results showed that 89% of the specialists believe these high-potency opioids have impacted treatment, and 86% have adjusted their prescribing practices; 80% supported adding slow-release oral morphine as a treatment option. This is important because it highlights a growing need for new and flexible treatment approaches amidst rising overdose rates.
Who this helps: This helps patients struggling with opioid use disorder.
The long road back to physical activity: the experience of people with moderate-to-severe traumatic brain injury.
2025
Disability and rehabilitation
Haynes A, Johnson L, Ashpole R, Mamo A, Chagpar S +9 more
Plain English This study looked at how people with moderate-to-severe traumatic brain injury (TBI) experience physical activity. Researchers found that 22 participants faced many challenges and changing feelings about being active, highlighting issues like adjusting to new normal, unrecognized needs, and the lengthy journey to regain physical activity. The findings suggest that to help these individuals, there should be more personalized support, a variety of community activity options beyond standard rehabilitation, and better insurance coverage for long-term physical activities.
Who this helps: This helps patients with moderate-to-severe TBI and the healthcare providers supporting them.
Plain English This study explored a new imaging technique called phosphorus CEST (Chemical Exchange Saturation Transfer) to monitor glycolysis, a crucial metabolic process, in cancer cells. Researchers found that this method allowed them to detect low concentrations of important molecules involved in energy production, like inorganic phosphate, in mouse breast cancer cells. The technique proved effective in distinguishing between cancerous and healthy tissues based on their metabolic activity, which is vital for understanding and treating tumors.
Who this helps: This benefits cancer patients and doctors by providing a better way to assess tumor characteristics and guide treatment decisions.
The role of fecal microbiota transplantation in diabetes.
2025
Acta diabetologica
Vassallo GA, Dionisi T, De Vita V, Augello G, Gasbarrini A +2 more
Plain English This research paper studies how fecal microbiota transplantation (FMT)—a process where healthy gut bacteria are transferred to someone else’s intestines—can help people with diabetes. The findings show that FMT can improve gut health, help control blood sugar levels, and influence immune system responses, especially in type 1 diabetes (T1D) and type 2 diabetes (T2D). In particular, people with T2D saw short-term benefits in insulin sensitivity, but the effects depended on their specific gut bacteria profiles.
Who this helps: This helps patients with diabetes looking for new treatment options.
Burnout among young Italian Internists: a cross-sectional study assessing prevalence and associated factors.
2025
Internal and emergency medicine
Vassallo GA, Dionisi T, Failla MM, Agyei-Nkansah A, Carrara D +11 more
Plain English This study looked at burnout, which is extreme stress and exhaustion, among young doctors in Italy who specialize in internal medicine. It found that 37.2% of these doctors reported experiencing burnout, especially those working long hours or in university hospitals, and only 2.8% had access to support systems to help them cope. This is important because addressing burnout can improve doctors' job satisfaction and patient care.
Who this helps: This helps young internists and their hospitals.
Markers for the detection of Lewy body disease versus Alzheimer's disease in mild cognitive impairment: a systematic review and meta-analysis.
2024
Aging clinical and experimental research
Burgio MI, Veronese N, Sarà D, Saccaro C, Masnata R +8 more
Plain English This study looked at how to tell the difference between two types of dementia—Alzheimer's disease (AD) and dementia with Lewy bodies (DLB)—in patients with mild cognitive impairment (MCI). Researchers found that markers in the cerebrospinal fluid were highly accurate in distinguishing between the two, with one marker hitting an accuracy score of 94%. Identifying these differences is crucial because it can lead to better treatments and care plans for patients showing early signs of dementia.
Who this helps: This helps patients with mild cognitive impairment and their doctors.
-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
2024
Journal of medical genetics
Forde C, Smith MJ, Burghel GJ, Bowers N, Roberts N +18 more
Plain English This study focused on a condition called NF2-related schwannomatosis, aiming to understand how common it is and its genetic causes. Researchers discovered that out of 1,084 patients in the UK, only 23% inherited the condition from a parent, while a striking 72% developed it spontaneously (de novo), with nearly half of these cases being mosaic. The study highlights the importance of accurate diagnoses and patient databases, finding that NF2 is much more common than previously thought, with a prevalence rate of 1 in 61,332 people.
Who this helps: This information benefits patients and doctors by providing better insights for diagnosis and treatment planning.
Association between depression and incident dementia: Longitudinal findings from the share study.
2024
International journal of geriatric psychiatry
Veronese N, Smith L, Koyanagi A, Soysal P, Mueller C +7 more
Plain English This study looked at whether depression increases the risk of developing dementia and cognitive problems over 15 years. It found that nearly 25% of participants were depressed at the start, and those with depression developed dementia about 2 years earlier. Specifically, the risk of dementia was 74% higher for people with depression, and this risk was even greater for those under 60 years old.
Who this helps: This research helps patients with depression and healthcare providers by highlighting the importance of treating depression to protect cognitive health.
Dionisi T, Di Sario G, De Mori L, Spagnolo G, Antonelli M +8 more
Plain English This research looked at the various treatments for Alcohol Use Disorder (AUD) and found that a mix of biological and psychological strategies is essential for effective care. It highlighted new approaches targeting brain chemicals like Glutamate, which may help patients reduce alcohol use, and emphasized the need for personalized treatment based on individual factors, given the high number of people affected globally. Overall, the research suggests that tailored therapies can significantly improve outcomes for those struggling with alcohol dependence.
Who this helps: This helps patients with Alcohol Use Disorder and healthcare providers in designing effective treatment plans.
Sorghum (Sorghum vulgare): an ancient grain, a novel choice for a healthy gluten-free diet.
2024
Minerva gastroenterology
Dionisi T, Rinninella E, Raoul P, Cintoni M, Mele MC +6 more
Plain English This research focused on sorghum, an ancient grain that could be a healthy addition to gluten-free diets for people with celiac disease (CD). It found that sorghum contains beneficial compounds that can help reduce inflammation, manage blood sugar, and lower cholesterol, making it potentially good for those struggling with CD. While there is some initial evidence that it can be safe for celiac patients, more long-term studies are needed to confirm its benefits.
Who this helps: This research benefits patients with celiac disease who need gluten-free food options.
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
2023
American journal of medical genetics. Part A
Sitaram S, Banka HC, Vassallo G, Pavaine J, Fairclough A +7 more
Plain English This study focused on a newborn who died from a severe brain condition and examined the genetic and biochemical causes of the illness. Researchers found that the child had adenylosuccinase deficiency, a rare metabolic disorder, by analyzing stored blood samples, which showed abnormal levels of certain compounds. This finding is significant because it highlights the importance of saving biological samples for future testing, which can lead to accurate diagnoses even in cases where patients do not survive.
Who this helps: This helps doctors and families dealing with undiagnosed genetic disorders.
The effect of physical activity on health outcomes in people with moderate-to-severe traumatic brain injury: a rapid systematic review with meta-analysis.
2023
BMC public health
Johnson L, Williams G, Sherrington C, Pilli K, Chagpar S +11 more
Plain English This study looked at how physical activity affects health in people with moderate-to-severe traumatic brain injuries (TBI). The researchers found that participating in a virtual reality exercise program improved mobility, with scores increasing by about 2.78 points on the Community Balance and Mobility Scale, compared to standard balance training. These findings are important because they highlight the potential benefits of tailored physical activity for enhancing the recovery and quality of life for people with TBI.
Who this helps: This helps patients with moderate-to-severe brain injuries.
Older People Hospitalized for COVID-19: Prognostic Role of Multidimensional Prognostic Index and Other Prognostic Scores.
2023
Journal of clinical medicine
Carruba L, Armata M, Vassallo G, Saccaro C, Di Palermo C +7 more
Plain English This study looked at how well different scoring systems predict outcomes for older patients hospitalized with COVID-19, specifically focusing on a tool called Brief-MPI. Researchers found that Brief-MPI effectively indicated a higher risk of death or needing intensive care, with scores showing good accuracy overall—above 0.70 for all the tested scoring systems. Understanding these scores can help doctors make better decisions for their patients, especially since they highlight areas where treatment may be needed.
Who this helps: This helps doctors and healthcare providers in managing older COVID-19 patients.
Correction to: the effect of physical activity on health outcomes in people with moderate-to-severe traumatic brain injury: a rapid systematic review with meta-analysis.
2023
BMC public health
Johnson L, Williams G, Sherrington C, Pilli K, Chagpar S +11 more
Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.
2023
Neuro-oncology advances
Evans DG, Halliday D, Obholzer R, Afridi S, Forde C +23 more
Plain English This study looked at the impacts of radiation treatment on patients with a genetic condition called NF2-related schwannomatosis, focusing on whether it leads to a higher risk of developing cancer. Among 266 patients treated with radiation, 9 developed malignant tumors, compared to only 4 out of 1,079 patients who did not receive radiation. This shows that the risk of developing malignancies is significantly higher (about 6% for those treated with radiation versus less than 1% for untreated patients), which is crucial information for determining treatment options.
Who this helps: This research benefits patients with NF2 and their doctors by highlighting the risks associated with radiation treatment for benign tumors.
Physical Activity Preferences of People Living with Brain Injury: Formative Qualitative Research to Develop a Discrete Choice Experiment.
2023
The patient
Haynes A, Howard K, Johnson L, Williams G, Clanchy K +8 more
Plain English This research studied the physical activity preferences of people living with moderate-to-severe traumatic brain injury in Australia. The team worked with 22 individuals to develop a survey that identifies what matters most to them when engaging in physical activities, narrowing down important factors from 17 to just 6 key preferences, such as the type of activity and accessibility. This matters because understanding these preferences can help create better guidelines for physical activities suited to their needs.
Who this helps: Patients with moderate-to-severe traumatic brain injury.
Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1.
2022
Journal of autism and developmental disorders
Pobric G, Taylor JR, Ramalingam HM, Pye E, Robinson L +11 more
Plain English This study looked at how brain activity relates to memory problems in teenagers with Neurofibromatosis Type 1 (NF1). The researchers found that these teens performed worse on memory tasks than their peers without NF1. While the immediate brain response (called P300) was similar in both groups, those with NF1 had a shorter reaction time, indicating differences in how their brains process information.
Who this helps: This research benefits patients with Neurofibromatosis Type 1 and their doctors by highlighting specific memory challenges they face.
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019.
2022
American journal of medical genetics. Part A
Collins-Sawaragi YC, Ferner R, Vassallo G, De Agrò G, Eccles S +8 more
Plain English This study looked at the experience of 127 children with Neurofibromatosis Type 1 who have plexiform neurofibromas, which are tumors that can affect various body parts. Researchers found that most of these tumors were located on the face (35%) or limbs (19%), with over half of the children experiencing disfigurement (57%) and some facing pain (28%) or functional impairments (23%). Many were treated conservatively (54%), while others had surgery (28%) or were starting medication called MEK inhibitors (19%), which are part of new treatments becoming available.
Who this helps: This benefits children with Neurofibromatosis Type 1 and their families through improved treatment options and support.
The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective.
2022
Journal of musculoskeletal & neuronal interactions
Chinoy A, Vassallo GR, Burkitt Wright E, Eelloo J, West S +5 more
Plain English This study looked at how Neurofibromatosis Type 1 (NF1) affects muscle strength in children. It found that these children often struggle with muscle weakness, leading to less physical activity and complaints of leg pain during exercise, with some not able to keep up with their friends. Recognizing and assessing their muscle issues can help them receive support at school and home, and introducing muscle-strengthening exercises may improve their condition.
Who this helps: This benefits children with Neurofibromatosis Type 1 and their caregivers.
Multidimensional Frailty and Vaccinations in Older People: A Cross-Sectional Study.
2022
Vaccines
Veronese N, Vassallo G, Armata M, Cilona L, Casalicchio S +9 more
Plain English This study looked at how frailty affects vaccination rates among older adults. Researchers examined 319 older patients in Italy and found that while 70.5% had received the flu vaccine, only 1.3% were vaccinated against diphtheria-tetanus-pertussis, and there was a noticeable link between frailty scores and pneumococcal vaccination, with 45.6% of the frailest participants vaccinated compared to 28.3% of less frail ones. These findings highlight the need to improve vaccination rates in older adults, particularly among those who are more frail, to help protect their health.
Who this helps: This helps older patients and healthcare providers focused on improving vaccination uptake.
Neuroanatomical correlates of working memory performance in Neurofibromatosis 1.
2022
Cerebral cortex communications
Sawyer C, Green J, Lim B, Pobric G, Jung J +7 more
Plain English This study looked at how brain structure relates to working memory in adolescents with Neurofibromatosis 1 (NF1), a genetic disorder that affects thinking and memory. Researchers found that compared to peers without NF1, those with the condition had larger gray matter volumes in certain brain areas but performed worse on tasks that involved low memory load, especially linked to the posterior cingulate cortex. This matters because it shows a clear connection between brain structure and memory performance, which helps explain why people with NF1 struggle with working memory.
Who this helps: This research benefits patients with Neurofibromatosis 1 and their healthcare providers.
Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1.
2022
Scientific reports
Garg S, Williams S, Jung J, Pobric G, Nandi T +7 more
Plain English This study looked at how a type of brain stimulation called anodal transcranial direct current stimulation (atDCS) affects brain activity and memory in teenagers with neurofibromatosis 1 (NF1), a genetic disorder that can cause cognitive issues. Researchers found that while atDCS decreased certain brain signals related to inhibition (called GABA) and initially worsened memory task performance, there were no lasting improvements in behavior after the stimulation ended. This research is important because it explores new ways to address memory problems in young people with NF1, which might lead to better treatment strategies in the future.
Who this helps: This helps teenagers with neurofibromatosis 1 and their healthcare providers.
P ParaCEST:P MRI-CEST Imaging Based on the Formation of a Ternary Adduct between Inorganic Phosphate and Eu-DO3A.
2022
Inorganic chemistry
Vassallo G, Garello F, Aime S, Terreno E, Delli Castelli D
Plain English This study looked at enhancing a type of MRI imaging called CEST (chemical exchange saturation transfer) by using a different kind of molecular signal from inorganic phosphate instead of protons, which are typically used. The researchers found that this new method can improve detection sensitivity by 1,000 times, reducing the amount of the detected signal needed from 111.2 M in water to just 10 mM with phosphate. This improvement could lead to better biological studies and clinical imaging techniques that help doctors see cells more clearly.
Who this helps: Patients and doctors in need of more accurate imaging for diagnosis and treatment.
Echocardiographic markers of early alcoholic cardiomyopathy: Six-month longitudinal study in heavy drinking patients.
2022
European journal of internal medicine
Mirijello A, Sestito L, Lauria C, Tarli C, Vassallo GA +9 more
Plain English This study looked at the heart health of heavy drinkers over six months to understand early signs of alcoholic cardiomyopathy (ACM), a heart condition caused by excessive alcohol use. Researchers examined 43 patients and found that nearly half (46.5%) reduced their alcohol consumption during treatment. Initially, some heart measurements were higher than normal, indicating potential issues, but those who cut back on drinking saw significant improvement in their heart function after six months.
Who this helps: This helps patients struggling with alcohol dependence and their doctors.
Sodium oxybate for the maintenance of abstinence in alcohol-dependent patients: An international, multicenter, randomized, double-blind, placebo-controlled trial.
2022
Journal of psychopharmacology (Oxford, England)
Guiraud J, Addolorato G, Antonelli M, Aubin HJ, de Bejczy A +28 more
Plain English This study focused on a medication called sodium oxybate (SMO) to help people who are dependent on alcohol stay sober. In a large trial with 314 participants, those who took SMO experienced on average 43.1 more days of sobriety during the treatment period compared to those taking a placebo. The positive effects of sodium oxybate continued even after stopping the medication, and it was generally well-tolerated by patients.
Who this helps: This benefits patients struggling with alcohol dependence.
Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.
2021
Neuro-oncology
Forde C, King AT, Rutherford SA, Hammerbeck-Ward C, Lloyd SK +14 more
Plain English This study followed 353 patients with neurofibromatosis type 2 (NF2) over 30 years to understand how the disease progresses and affects survival. They found that 17% of the patients died during the study period, and the number of surgeries for related tumors decreased over time while the use of a specific treatment called bevacizumab increased. Recognizing the patterns in how NF2 behaves helps doctors make better care decisions for patients.
Who this helps: This research benefits patients with NF2 and their doctors.
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
2021
Journal of inherited metabolic disease
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J +21 more
Plain English This study investigated a genetic condition called ALG13-CDG, which affects brain development and can lead to intellectual disabilities. Researchers found new genetic changes in the ALG13 gene and noticed subtle changes in certain proteins related to sugar attachment in the blood of affected individuals, especially in one male subject. This research is important because it helps improve our understanding of the condition and might lead to better diagnosis and care for those affected.
Who this helps: Patients with ALG13-CDG and their families.
The intertwined expansion of telehealth and buprenorphine access from a prescriber hub.
2021
Preventive medicine
Moore DT, Wischik DL, Lazar CM, Vassallo GG, Rosen MI
Plain English This study looked at how telehealth and the use of buprenorphine to treat Opioid Use Disorder (OUD) have expanded in the Veterans Healthcare Administration in New England, especially during and after the COVID-19 pandemic. The research found that the rise in opioid overdoses made it more important to provide buprenorphine through telemedicine, leading to a need for tele-buprenorphine hubs to help people in areas with limited healthcare access. This matters because it offers a way to safely deliver treatment to those who need it most.
Who this helps: Patients struggling with Opioid Use Disorder, especially in remote areas.
Predictors of cognitive, behavioural and academic difficulties in NF1.
2021
Journal of psychiatric research
Geoffray MM, Robinson L, Ramamurthy K, Manderson L, O'Flaherty J +5 more
Plain English This study looked at how factors like family history, socioeconomic status, and neurological issues affect the thinking, behavior, and school performance of children with Neurofibromatosis type 1 (NF1). The researchers found that 80% of the children tested scored lower than average in these areas, with those having a family history of NF1 and lower socioeconomic status doing particularly poorly. Understanding these links is important because it can help guide early interventions and educational support for at-risk children.
Who this helps: This helps children with NF1 and their families, as well as educators and healthcare providers.
European review for medical and pharmacological sciences
Vassallo GA, Dionisi T, Tarli C, Augello G, Mirijello A +3 more
Plain English This study looked at how sepsis, a serious infection, affects people with alcohol-related liver disease. Researchers found that patients with this condition have weakened immune systems and changes in gut bacteria, making them more prone to infections. Early and effective antibiotic treatment is crucial, as sepsis is particularly dangerous for these patients, and their chances of recovery are low.
Who this helps: This helps patients with alcohol-related liver disease and their doctors.
Risk of burnout and stress in physicians working in a COVID team: A longitudinal survey.
2021
International journal of clinical practice
Dionisi T, Sestito L, Tarli C, Antonelli M, Tosoni A +7 more
Plain English The study examined stress and burnout levels in 51 doctors working in COVID wards at Gemelli Hospital in Italy over a month. It found that doctors from specialties other than internal medicine experienced significantly higher emotional exhaustion, while attending physicians generally reported less burnout than residents. This research highlights that the type of medical specialty and the level of training can affect burnout risk among healthcare workers during a pandemic.
Who this helps: This benefits doctors and hospital administrators looking to support physician well-being.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
2020
Genetics in medicine : official journal of the American College of Medical Genetics
Evans DG, Hartley CL, Smith PT, King AT, Bowers NL +25 more
Plain English This study looked at how common a genetic condition called mosaicism is in people who have de novo neurofibromatosis 2 (NF2), meaning they have no known family history of the condition. Researchers tested over 1,000 patients and found that about 22% (232 out of 1055) had a mosaic mutation, which is higher than previous estimates. The findings are important because they indicate a probable overall mosaicism rate of 59.7%, especially high in older individuals, which helps better understand the genetic risks for families affected by NF2.
Who this helps: This benefits patients and their families by providing clearer information about the genetic risks associated with NF2.
Plain English This study looked at a rare condition in children called Acute Encephalopathy with Reduced Subcortical Diffusion (AED), which involves severe seizures and changes in brain scans. Researchers examined three patients who all showed signs of brain shrinkage on follow-up scans. They found that brain volume loss was present in all cases, highlighting the need for brain imaging in children with prolonged seizures to monitor and manage the condition effectively.
Who this helps: This helps doctors by providing guidelines for diagnosing and treating affected children.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
2020
Neuropediatrics
Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T +8 more
Plain English This study looked at genetic mutations in a gene called MTPAP that are linked to a severe brain condition that affects newborns and can lead to early death. Researchers found specific mutations in the MTPAP gene in three affected children, which resulted in significant changes to mitochondrial function, crucial for energy production in cells. About 30% of affected infants do not survive past their first year, highlighting the urgency in identifying these genetic issues to potentially inform future treatments.
Who this helps: Patients with mitochondrial disorders and their families.
Perceived fatigue in children and young adults with neurofibromatosis type 1.
2020
Journal of paediatrics and child health
Vassallo G, Mughal Z, Robinson L, Weisberg D, Roberts SA +7 more
Plain English This study examined how tired children and young adults with neurofibromatosis type 1 (NF1) feel compared to their healthy siblings. Researchers found that children with NF1 reported much higher levels of fatigue, with scores averaging 55 out of 100, significantly lower than the 75 reported by their siblings. This matters because it highlights the ongoing fatigue challenges faced by these children, which can affect their daily lives and activities.
Who this helps: Patients with NF1 and their families.
A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management.
2020
Clinical neurology and neurosurgery
Murphy C, Vassallo G, Burkitt-Wright E, Hupton E, Eelloo J +4 more
Plain English This study looked at children with neurofibromatosis type 1 (NF1) to see how often they develop a condition called aqueduct stenosis (AS), which can cause fluid buildup in the brain. Out of 233 children with NF1, 24 were found to have AS, with 10% of the group affected overall. Most had symptoms like increased pressure in the brain, and about a quarter had AS discovered by chance during imaging tests. It's important because AS can lead to serious complications like hydrocephalus, and knowing how common it is in these patients can help doctors monitor and treat them more effectively.
Who this helps: This research benefits doctors and families of children with NF1 by improving understanding and management of related conditions.
Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1.
2020
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
Curtis-Lopez CM, Soh C, Ealing J, Gareth Evans D, Burkitt Wright EMM +3 more
Plain English This study looked at the different types of spinal problems in adults with Neurofibromatosis type 1 (NF1) by analyzing data from 303 patients. Researchers found that nearly 58% had tumors on spinal nerve roots, and 52.5% had some form of spinal deformity. This matters because it highlights the high prevalence of serious spinal issues in NF1 patients, even if they don't show noticeable symptoms, indicating a need for regular monitoring and possible treatment.
Who this helps: This helps patients with NF1 and their doctors.
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
2020
Epilepsia
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M +28 more
Plain English This study looked at the characteristics and genetic causes of epilepsy with myoclonic atonic seizures (MAE) in 101 patients, focusing on their neurological development and behavior. Researchers found that 62% of patients had intellectual disabilities, and 24% showed signs of autism. They identified genetic issues in 14% of patients, pointing to a range of genetic factors linked to MAE rather than a single cause.
Who this helps: This research benefits patients with MAE and their families by improving understanding of the condition and potential genetic factors involved.
Diagnosis and Management of Alcohol Use Disorder in Patients with Liver Disease: Lights and Shadows.
2020
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
Addolorato G, Vassallo GA, Mirijello A, Gasbarrini A
Plain English This research paper examines how to diagnose and treat alcohol use disorder (AUD) in people with liver disease. It found that many patients deny their alcohol consumption, which complicates diagnosis, and that while stopping alcohol use is essential for treatment, there are limited medication options tested for those with severe liver damage, with baclofen being the only one. The paper emphasizes the need for effective psychosocial support and better-organized treatment teams for these patients.
Who this helps: This helps patients with liver disease and their healthcare providers.
Gut microbiota compositional and functional fingerprint in patients with alcohol use disorder and alcohol-associated liver disease.
2020
Liver international : official journal of the International Association for the Study of the Liver
Addolorato G, Ponziani FR, Dionisi T, Mosoni C, Vassallo GA +14 more
Plain English This study looked at the gut bacteria of 36 patients with alcohol use disorder (AUD) and liver disease, comparing them to 36 healthy individuals. Researchers found that patients with AUD had less diverse gut bacteria and specific changes in their gut microbes that could identify them with 93.4% accuracy. Additionally, levels of harmful substances and inflammatory markers were significantly higher in AUD patients, especially in those with severe liver disease.
Who this helps: This research benefits patients with alcohol use disorder and their healthcare providers by providing insights into how gut bacteria may influence liver health.
Make Mission Impossible Feasible: The Experience of a Multidisciplinary Team Providing Treatment for Alcohol Use Disorder to Homeless Individuals.
2020
Alcohol and alcoholism (Oxford, Oxfordshire)
Dionisi T, Mosoni C, Di Sario G, Tarli C, Antonelli M +11 more
Plain English This study looked at how a team of health professionals helped homeless individuals with alcohol use disorder (AUD) by providing a short inpatient treatment and ongoing support. The results showed that after six months, alcohol consumption dropped from an average of 10 drinks a day to just 2, and after a year, the average fell to 0 drinks. Improving treatment and supporting these individuals as they find stable housing can lead to better recovery outcomes.
Who this helps: This helps homeless individuals struggling with alcohol use disorder.
Wernicke's Encephalopathy in Alcohol Use Disorder Patients after Liver Transplantation: A Case Series and Review of Literature.
2020
Journal of clinical medicine
Vassallo GA, Mirijello A, Dionisi T, Tarli C, Augello G +3 more
Plain English This study looked at three patients with alcohol use disorder who developed a serious brain condition called Wernicke's encephalopathy after undergoing liver transplantation. All patients showed confusion and delirium, but after receiving thiamine (a vitamin) quickly, they improved significantly within 3-4 days. This is important because it suggests that giving thiamine before and after liver surgery could help prevent this dangerous condition in patients with alcohol use disorder.
Who this helps: This helps patients with alcohol use disorder undergoing liver transplantation.
Acute HEV hepatitis: clinical and laboratory diagnosis.
2019
European review for medical and pharmacological sciences
Marrone G, Biolato M, Mercurio G, Capobianchi MR, Garbuglia AR +5 more
Plain English This study looked at cases of hepatitis E virus (HEV) infection at a hospital over the last three years. Researchers found eight people with acute HEV infections, including two linked to an outbreak and six that appeared on their own. This is important because it shows that HEV is not only a problem in developing countries but is also being detected more frequently in developed nations, which may affect how doctors diagnose and treat liver issues.
Who this helps: This helps doctors and patients by raising awareness of HEV as a potential cause of liver disease.
Neurosurgical contribution within a complex NF1 supraregional service.
2019
Clinical neurology and neurosurgery
Raffalli-Ebezant H, George KJ, Burkitt-Wright E, Roncaroli F, Evans G +5 more
Plain English This study examined the role of neurosurgery in treating patients with neurofibromatosis type I (NF1) at a specialized center over eight years. Researchers reviewed 1,505 cases, held 171 clinic appointments, and performed 43 surgeries on NF1 patients. The findings highlight the benefits of a dedicated team approach, improving patient care through better diagnosis and treatment of complex cases.
Who this helps: This helps patients with neurofibromatosis type I and their healthcare providers.
Plain English This research looked at children in England with neurofibromatosis type 2 (NF2) to see how their genetic makeup affected the severity of their condition. The study found that 91% of the 87 patients had a genetic variant causing NF2, with those having the most severe form (group 3) showing much earlier symptoms and needing more treatments, like surgery or medication, compared to those with a milder form (group 2A). Specifically, 77% of group 3 patients developed significant tumors, and 43% required major interventions, indicating that they face greater health challenges.
Who this helps: This helps patients and families affected by neurofibromatosis type 2 by providing insights into the different severity levels of the condition.
Madelung's disease and acute alcoholic hepatitis: case report and review of literature.
2019
European review for medical and pharmacological sciences
Vassallo GA, Mirijello A, Tarli C, Rando MM, Antonelli M +9 more
Plain English This study looked at Madelung's disease, a rare condition where fatty tumors grow symmetrically around the neck and shoulders, often in men who have abused alcohol. The researchers also shared a case of a man who had both Madelung's disease and severe liver inflammation due to alcohol use. Understanding this link is important for better diagnosis and treatment of patients facing these issues.
Who this helps: This helps patients suffering from Madelung's disease and their doctors.
Binge Drinking among adolescents is related to the development of Alcohol Use Disorders: results from a Cross-Sectional Study.
2018
Scientific reports
Addolorato G, Vassallo GA, Antonelli G, Antonelli M, Tarli C +10 more
Plain English This study explored the link between binge drinking and alcohol use disorders (AUD) among adolescents in Italy. Out of 2,704 surveyed high school students, 1,278 reported binge drinking in the past year, and 165 were diagnosed with AUD, showing a clear difference: 11.6% of binge drinkers had AUD compared to only 0.9% of those who didn't binge drink. This matters because it highlights the serious risk of developing alcohol problems linked to binge drinking during teenage years.
Who this helps: This helps adolescents and their parents who need to understand the risks of binge drinking.
Liver Injury, Endotoxemia, and Their Relationship to Intestinal Microbiota Composition in Alcohol-Preferring Rats.
2018
Alcoholism, clinical and experimental research
Posteraro B, Paroni Sterbini F, Petito V, Rocca S, Cubeddu T +13 more
Plain English This study looked at how heavy drinking affects gut bacteria and liver health in alcohol-preferring rats. After 12 months of drinking, the rats developed liver fat accumulation and higher levels of toxins in their blood, while their gut bacteria significantly changed, with certain types becoming more abundant. Understanding these relationships is important because it can help us find better ways to prevent and treat diseases related to alcohol consumption.
Who this helps: This helps patients struggling with alcohol use and healthcare providers treating alcohol-related conditions.
Author Correction: Binge Drinking among adolescents is related to the development of Alcohol Use Disorders: results from a Cross-Sectional Study.
2018
Scientific reports
Addolorato G, Vassallo GA, Antonelli G, Antonelli M, Tarli C +10 more
Plain English The study looked at how binge drinking in teenagers is connected to the rise of alcohol use disorders. It found that adolescents who binge drink are more likely to develop these disorders later on. This is important because it highlights the risks of binge drinking during teenage years, which can lead to long-term health issues.
Who this helps: This helps parents, educators, and healthcare providers understand the risks associated with teenage drinking.
Baclofen for the Treatment of Alcohol Use Disorder in Patients With Liver Cirrhosis: 10 Years After the First Evidence.
2018
Frontiers in psychiatry
Mosoni C, Dionisi T, Vassallo GA, Mirijello A, Tarli C +7 more
Plain English This research focused on the use of baclofen, a medication, to treat people with Alcohol Use Disorder (AUD) who also have severe liver disease (cirrhosis). It found that baclofen effectively helped reduce alcohol consumption and encouraged patients to stop drinking, all while being safe for those with liver issues. This is important because traditional treatments often don't work well for these patients, and effective options are needed to improve their health and quality of life.
Who this helps: This helps patients with Alcohol Use Disorder and liver cirrhosis.