Gabriella Milan

Department of Cardiac Surgery, University Hospital Basel, Department of Biomedicine, University of Basel and University Hospital Basel, Basel, Switzerland.

50 publications 2017 – 2026 ORCID

What does Gabriella Milan research?

Gabriella Milan studies several interconnected areas within healthcare. Her research includes investigating heart health by analyzing proteins that help diagnose heart damage, which aids doctors in distinguishing between different types of heart attacks. She also looks into how inflammation in the pancreas affects cholesterol levels and can lead to serious issues like pancreatitis and pancreatic cancer. Additionally, she explores how mental health treatments during pregnancy can improve both physical and emotional outcomes for mothers. By focusing on these areas, she contributes valuable insights into how we can better prevent and treat critical health conditions.

Key findings

  • The cTnI/cTnT ratio is 2.06 for acute heart damage compared to 0.66 for chronic issues and 0.50 for individuals without heart disease.
  • In her study on cholesterol and pancreatic inflammation, Milan found that lowering cholesterol reduced inflammation and potentially prevented complications.
  • Women receiving treatment for mental health during pregnancy reported 80% experiencing physical symptoms versus 65% who did not receive treatment.

Frequently asked questions

Does Dr. Milan study heart health?
Yes, she investigates heart proteins that help diagnose different types of heart damage.
What treatments has Dr. Milan researched?
She has researched treatments for mental health during pregnancy and their effects on maternal health outcomes.
Is Dr. Milan's work relevant to patients with obesity?
Yes, she studies the effects of bariatric surgery and how it can improve health outcomes in patients with severe obesity.

Publications in plain English

Reprogramming of cholesterol sensing in epithelial cells supports pancreatic inflammation.

2026

Molecular metabolism

Milan G, Mareninova OA, Fantuz M, Spacci M, Paoli C +6 more

Plain English
This study investigated how inflammation affects cholesterol levels in pancreatic cells, which can lead to pancreatitis and increase the risk of pancreatic cancer. Researchers found that inflammation causes a drop in a protein called NPC1, leading to a buildup of cholesterol in certain cells of the pancreas. They discovered that lowering cholesterol levels can reduce inflammation and damage, while blocking NPC1 makes the problem worse, highlighting how cholesterol management could influence the progression of pancreatic diseases. Who this helps: This helps patients with pancreatitis and doctors treating them.

PubMed

The cTnI/cTnT Ratio in Myocardial Injury: A Multicohort and Experimental Synthesis.

2026

Journal of the American College of Cardiology

Zimmermann T, Koechlin L, Walter J, Kimenai DM, Bularga A +29 more

Plain English
This study looked at two heart proteins, cTnI and cTnT, to see if they are truly interchangeable in diagnosing heart damage. It found that the cTnI/cTnT ratio is significantly higher in cases of acute heart damage (2.06) compared to chronic heart issues (0.66) or individuals with no known heart disease (0.50). This difference is important because it can help doctors better distinguish between different types of heart attacks, making diagnoses more accurate. Who this helps: Patients experiencing heart issues and their doctors.

PubMed

Harnessing the angiogenic potential of adipose-derived stromal vascular fraction cells with perfusion cell seeding.

2025

Stem cell research & therapy

Reid G, Cerino G, Melly L, Fusco D, Zhang C +3 more

Plain English
This study looked at how different methods of preparing cells from human fat can improve the growth of blood vessels for regenerative medicine. Researchers compared two ways to prepare these cells: one that uses a special setup to continuously supply nutrients (called perfusion) and another that simply places cells on a surface without ongoing flow. They found that perfusion seeding allowed for better distribution of cells and increased important growth factors, leading to faster blood vessel formation in the short term. However, the long-term benefits were not significantly better than the simpler method. Who this helps: This research benefits patients needing regenerative therapies, especially those with conditions that limit blood flow.

PubMed

Using the PowerMom Digital Health Platform to Support Prenatal Mental Health and Maternal Health Outcomes: Observational Cohort Study.

2025

JMIR mental health

Milan G, Lee V, Gadaleta M, Ariniello L, Faksh A +2 more

Plain English
This study looked at how treating mental health issues like anxiety and depression during pregnancy affects both physical symptoms and mental health outcomes for new mothers. Researchers used the PowerMom digital platform to collect data from nearly 2,100 participants, finding that those who received treatment experienced more physical symptoms, such as fatigue (80% vs. 65%) and nausea (70% vs. 53%), and had worse mental health scores after giving birth compared to those who didn't receive treatment. This research highlights the importance of addressing mental health in pregnant individuals to improve overall health during and after pregnancy. Who this helps: This benefits pregnant individuals dealing with mental health issues, healthcare providers, and researchers focused on maternal health.

PubMed

Serum ocrelizumab concentrations in patients with multiple sclerosis: A cross-sectional study from routine healthcare.

2025

Multiple sclerosis and related disorders

Denisa M, Ivana K, Pavel H, Patrik M, Hana B +3 more

Plain English
This study examined the levels of a drug called ocrelizumab in patients with multiple sclerosis who received either 300 mg or 600 mg doses. Researchers tested 180 patients and found that those who had a 300 mg dose had ocrelizumab levels between 20.5-62.4 mg/L, while those on 600 mg had levels from 0.3-21.8 mg/L. The findings are important because they showed that drug levels can vary a lot between patients and can change based on body weight and the time since the last dose; this could lead to ineffective treatment or side effects. Who this helps: This research benefits multiple sclerosis patients and their doctors by providing insights into how the drug works in different individuals.

PubMed

Correction: Rosiglitazone modifies the adipogenic potential of human muscle satellite cells.

2025

Diabetologia

De Coppi P, Milan G, Scarda A, Boldrin L, Centobene C +6 more

PubMed

Association between wearable sensor signals and expected hormonal changes in pregnancy.

2025

EBioMedicine

Milan G, Ariniello L, Baca-Motes K, Faksh A, Kueper JK +3 more

Plain English
This study looked at how wearable sensors can track physical changes during pregnancy and link these to hormonal changes. Researchers found that resting heart rate decreased in early pregnancy, then increased before delivery, and that these changes closely matched hormonal fluctuations, with a strong correlation of 0.93. Understanding these patterns is important because it can help identify risks for negative pregnancy outcomes like miscarriage or preterm birth. Who this helps: This benefits pregnant individuals and their healthcare providers.

PubMed

Association of Chrono-Nutritional Profiles with Weight Loss and Comorbidity Remission After Bariatric Surgery in Patients with Severe Obesity.

2025

Nutrients

Bettini S, Carraro E, Pilatone A, Schiff S, Girardi P +10 more

Plain English
This study looked at how different eating patterns could affect weight loss and health improvements in patients with severe obesity after they had weight-loss surgery. Researchers followed 75 patients for about 36 months and found that while all patients lost significant weight, those with irregular eating patterns lost less weight compared to others. However, the improvements in obesity-related health issues were similar across all eating profiles. Who this helps: This research benefits patients with severe obesity planning to undergo bariatric surgery and their doctors.

PubMed

The effects of daylight saving time and clock time transitions on sleep and sleepiness: a systematic review.

2025

Sleep medicine reviews

Romigi A, Franco V, Scoditti E, Milan G, Ceriello F +2 more

Plain English
This research reviewed various studies to see how moving the clocks for Daylight Saving Time (DST) affects people's sleep and how sleepy they feel during the day. The findings showed that changing the clocks to DST can lead to shorter sleep durations and poorer sleep quality, with these effects being stronger in people who naturally stay up late. Understanding these impacts is important for creating better public health guidelines regarding sleep and clock changes. Who this helps: This helps patients and anyone affected by sleep issues related to time changes.

PubMed

Asymmetric biphasic electric stimulation supports cardiac maturation and functionality.

2025

Journal of tissue engineering

Sileo A, Gabetti S, Gülan AC, Cervenka I, Zhang C +4 more

Plain English
This study explored a new type of electrical stimulation called asymmetric biphasic stimulation to improve the maturity and performance of heart cells in laboratory models. Researchers found that this method led to better electrical function, calcium handling, and stronger contractions in neonatal rat heart cells compared to traditional stimulation methods, without causing cell stress. This matters because creating more realistic heart models can enhance drug testing and research, potentially leading to better treatments for heart disease. Who this helps: This benefits researchers and medical professionals working on cardiac therapies.

PubMed

C16ORF70/MYTHO promotes healthy aging in C.elegans and prevents cellular senescence in mammals.

2024

The Journal of clinical investigation

Franco-Romero A, Morbidoni V, Milan G, Sartori R, Wulff J +19 more

Plain English
Researchers studied a gene called C16ORF70, which produces a protein named MYTHO, to understand its role in aging. They found that MYTHO helps extend the lifespan and health of organisms, such as the tiny roundworm C. elegans and possibly humans. In experiments, worms lacking the MYTHO equivalent lived significantly shorter lives and struggled more when exposed to stress, highlighting MYTHO's importance in promoting resilience and healthy aging. Who this helps: This aids patients and researchers focusing on aging and age-related diseases.

PubMed

Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.

2024

American journal of human genetics

Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B +132 more

Plain English
This study looked at the genetics of sporadic frontotemporal dementia (sFTD) by analyzing nearly 4,700 cases and over 15,300 control participants. Researchers found specific genetic markers associated with an increased risk for sFTD, particularly at the MAPT and APOE locations, with a 27% higher risk linked to variations in these genes. Understanding these genetic factors is important because it can lead to better diagnosis and treatment options for sFTD, a condition that currently lacks effective therapies. Who this helps: This benefits patients with sporadic frontotemporal dementia and their families.

PubMed

Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome.

2023

Endocrinology

Dassie F, Albiero M, Bettini S, Cappellari R, Milan G +6 more

Plain English
This study looked at Alström syndrome (AS), a rare genetic condition that causes various health issues, including obesity and metabolic problems. Researchers found that patients with AS had 40% fewer hematopoietic stem cells (HSPCs) in their blood compared to healthy donors. Over three years, these patients' HSPC levels dropped further by 20%, and those who experienced worsening metabolic health had consistently lower HSPC levels. These findings suggest that having fewer HSPCs could contribute to the serious health decline seen in people with AS. Who this helps: Patients with Alström syndrome and their healthcare providers.

PubMed

MYTHO is a novel regulator of skeletal muscle autophagy and integrity.

2023

Nature communications

Leduc-Gaudet JP, Franco-Romero A, Cefis M, Moamer A, Broering FE +14 more

Plain English
This study examined a new gene called MYTHO, which plays a crucial role in maintaining muscle health by regulating autophagy, a process that helps clear damaged cells. Researchers found that when they reduced MYTHO levels in mice, it helped prevent muscle wasting in various conditions like starvation and illness, while increasing MYTHO led to muscle loss and other muscle damage. These findings indicate that managing MYTHO levels could be important for treating muscle disorders, especially myotonic dystrophy, where MYTHO expression is lower. Who this helps: Patients with muscle disorders, particularly myotonic dystrophy, and their doctors.

PubMed

Characterization of Human Subcutaneous Adipose Tissue and Validation of the Banking Procedure for Autologous Transplantation.

2023

International journal of molecular sciences

Favaretto F, Compagnin C, Cogliati E, Montagner G, Dell'Antonia F +4 more

Plain English
This study looked at how well fat tissue (adipose tissue) can be stored for future medical use, specifically after being frozen for up to three years. Researchers found that the fat maintained its quality and ability to support healing in laboratory tests, and two patients successfully received fat transplants without any problems. This is important because it means people can bank their own fat for later use, reducing the need for multiple procedures to collect new samples. Who this helps: Patients needing tissue repairs, such as those recovering from injuries or surgeries.

PubMed

Obesity, the Adipose Organ and Cancer in Humans: Association or Causation?

2023

Biomedicines

Trevellin E, Bettini S, Pilatone A, Vettor R, Milan G

Plain English
This study looked at how obesity might increase the risk of various cancers. Researchers found that changes in fat tissue (adipose tissue) linked to obesity can promote cancer growth and spread. Specifically, losing weight can reduce the risk of developing obesity-related cancers, showing that obesity and cancer are connected in a cause-and-effect way. Who this helps: This research benefits patients at risk for obesity-related cancers and doctors treating them.

PubMed

Upscaled Skeletal Muscle Engineered Tissue with In Vivo Vascularization and Innervation Potential.

2023

Bioengineering (Basel, Switzerland)

Borisov V, Gili Sole L, Reid G, Milan G, Hutter G +4 more

Plain English
This study looked at how to create larger, functional muscle tissues that can grow and connect to blood vessels and nerves. Researchers successfully made muscle tissues that were 50 mm in diameter, and found that those grown with special cells called SVF cells had better blood vessel growth compared to those grown without them (5.03 mm of blood vessels per mm of tissue versus 3.68 mm). This is important because developing tissues that function well in the body could lead to better treatments for muscle injuries or diseases. Who this helps: This helps patients needing muscle repair or replacement after injury or disease.

PubMed

Down-staging of obesity one year after bariatric surgery: a new proposal of Edmonton obesity staging system.

2023

Frontiers in endocrinology

Quinto G, Bettini S, Neunhaeuserer D, Battista F, Milan G +5 more

Plain English
This study looked at how two different systems for measuring obesity severity, called the Edmonton Obesity Staging System (EOSS) and a modified version that includes Cardiorespiratory Fitness (EOSS-CRF), change before and after bariatric surgery in 72 patients. The findings showed that after surgery, there was a significant increase in patients who no longer had functional impairments: only 9.7% were without issues before surgery, compared to 50% one year later (p<0.001). This is important because it highlights that bariatric surgery not only helps with weight loss but also improves overall health, making it easier to classify obesity severity. Who this helps: Patients struggling with obesity and healthcare providers managing their treatment.

PubMed

Adherence, safety, and choice of the monthly dapivirine vaginal ring or oral emtricitabine plus tenofovir disoproxil fumarate for HIV pre-exposure prophylaxis among African adolescent girls and young women: a randomised, open-label, crossover trial.

2023

The lancet. HIV

Nair G, Celum C, Szydlo D, Brown ER, Akello CA +29 more

Plain English
This study looked at two ways to help prevent HIV in young women in Africa: a monthly vaginal ring and a daily pill. Researchers found that both methods were used well by the participants, with around 57% being highly adherent to each option, and there were very few serious side effects reported—54 cases of mild issues for the pills compared to just five for the ring. It matters because it shows that providing choices between the ring and the pills can help young women find a method of prevention that works for them. Who this helps: This helps adolescent girls and young women at risk of HIV.

PubMed

Adipogenic progenitors in different organs: Pathophysiological implications.

2022

Reviews in endocrine & metabolic disorders

Favaretto F, Bettini S, Busetto L, Milan G, Vettor R

Plain English
This study looked at how fat cells (adipogenic progenitors) are distributed in various organs and how this affects health. It found that when there is too much fat, particularly in areas where it's not usually found, it can lead to serious health issues like insulin resistance, type 2 diabetes, and heart disease. This research is important because understanding how fat behaves in different organs can help in preventing and treating conditions related to obesity and poor nutrition. Who this helps: This helps patients at risk of obesity-related diseases and health professionals treating them.

PubMed

Author Correction: The mitochondrial protein Opa1 promotes adipocyte browning that is dependent on urea cycle metabolites.

2022

Nature metabolism

Bean C, Audano M, Varanita T, Favaretto F, Medaglia M +15 more

PubMed

Metabolic Slowing Vanished 5 Years After Sleeve Gastrectomy in Patients With Obesity and Prediabetes/Diabetes.

2022

The Journal of clinical endocrinology and metabolism

Bettini S, Milan G, Favaretto F, Fabris R, Dal Prà C +4 more

Plain English
This study looked at how weight-loss surgery, specifically sleeve gastrectomy, affects metabolism in patients with obesity and either prediabetes or type 2 diabetes over five years. After one year, patients lost about 31.5% of their weight and had a significant slowing of their metabolism, but by five years post-surgery, this metabolic slowing had completely disappeared, indicating that their energy expenditure returned to expected levels. Understanding these changes is important because it helps doctors better support patients in managing their weight and health over the long term. Who this helps: This helps patients who have undergone weight-loss surgery, especially those with prediabetes and diabetes.

PubMed

Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome.

2022

Frontiers in genetics

Marozio L, Dassie F, Bertschy G, Canuto EM, Milan G +3 more

Plain English
This study looked at a 27-year-old woman with Alström syndrome (AS), a rare genetic condition that can cause multiple health issues, to see if she could conceive and have a healthy pregnancy. The woman had a successful pregnancy, gaining 10 kg, and while she developed preeclampsia around the 34th week, a healthy baby boy was delivered via cesarean section at 35 weeks, weighing 1,950 g. This is significant because it shows that women with Alström syndrome can conceive and carry a pregnancy to term, highlighting the need for careful management of their health during pregnancy. Who this helps: This benefits women with Alström syndrome who wish to become pregnant and their healthcare providers.

PubMed

Dual roles of mTORC1-dependent activation of the ubiquitin-proteasome system in muscle proteostasis.

2022

Communications biology

Kaiser MS, Milan G, Ham DJ, Lin S, Oliveri F +7 more

Plain English
This study looked at how a specific pathway in the body affects muscle growth and size, examining the role of a protein complex called mTORC1. Researchers found that while mTORC1 promotes muscle growth when activated properly, its constant activation can actually lead to muscle loss, partly by increasing protein breakdown through a system known as the ubiquitin-proteasome system (UPS). Specifically, they discovered that while reactivating a different part of the pathway (PKB/Akt) can help restore muscle growth, damaging the UPS led to quick loss of muscle health. Who this helps: This research benefits patients with muscle-wasting conditions and doctors working to improve muscle health.

PubMed

Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alström syndrome.

2021

American journal of medical genetics. Part A

Dassie F, Lorusso R, Benavides-Varela S, Milan G, Favaretto F +8 more

Plain English
This study looked at Alström syndrome, a rare genetic condition that causes serious health problems like blindness and hearing loss. Researchers evaluated 19 patients and discovered six new mutations in the ALMS1 gene, which are linked to the disease. They found that more than half of the patients (53%) had trouble with auditory working memory, and 74% showed difficulties with specific physical tasks. Patients with a "mild phenotype" generally performed better on tests than those with the typical form of the disease, indicating that some patients may have less severe symptoms. Who this helps: This research benefits patients with Alström syndrome and their doctors by providing better understanding and potential for tailored management of the condition.

PubMed

Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.

2021

Endocrine

Dassie F, Favaretto F, Bettini S, Parolin M, Valenti M +5 more

Plain English
This study focuses on Alström syndrome, an extremely rare genetic disorder that affects about one in a million people. Researchers found that individuals with this condition often face serious health issues such as early childhood obesity, insulin resistance, and type 2 diabetes, and they highlight the importance of managing these conditions through lifestyle changes like diet and exercise. Understanding Alström syndrome helps develop better care strategies for patients struggling with these interconnected health problems. Who this helps: This benefits patients with Alström syndrome and their families.

PubMed

In vitro chronic glycation induces AGEs accumulation reducing insulin-stimulated glucose uptake and increasing GLP1R in adipocytes.

2021

American journal of physiology. Endocrinology and metabolism

Chilelli NC, Faggian A, Favaretto F, Milan G, Compagnin C +6 more

Plain English
This study investigated how chronic glycation affects fat cells when exposed to high sugar levels over time. Researchers found that increased levels of harmful compounds called AGEs reduced the cells' ability to take in glucose and raised the presence of GLP1R in these cells. This is important because it helps explain why high sugar environments can lead to insulin resistance, a key issue in diabetes. Who this helps: This helps patients with diabetes and their doctors understand the impact of high sugar levels on fat cells.

PubMed

Liver Fibrosis and Steatosis in Alström Syndrome: A Genetic Model for Metabolic Syndrome.

2021

Diagnostics (Basel, Switzerland)

Bettini S, Bombonato G, Dassie F, Favaretto F, Piffer L +9 more

Plain English
This study looked at liver damage and fat buildup in people with Alström syndrome, a rare genetic condition that leads to insulin resistance, obesity, and diabetes. Researchers found that patients with Alström syndrome had significantly higher liver stiffness and fat levels compared to healthy individuals – liver stiffness was much higher in patients (less than 0.001), indicating more fibrosis, and liver fat was also greater (0.013). These findings are important because they can help identify liver problems early in patients, allowing for better management of their condition. Who this helps: Patients with Alström syndrome and their doctors.

PubMed

Edmonton Obesity Staging System: an improvement by cardiopulmonary exercise testing.

2021

International journal of obesity (2005)

Bettini S, Quinto G, Neunhaeuserer D, Battista F, Belligoli A +5 more

Plain English
This study looked at how to better classify the severity of obesity by including a measure of physical fitness called cardiorespiratory fitness (CRF). Researchers analyzed data from 500 patients and found that using CRF alongside a standard obesity classification system revealed more about patients' physical impairments. This improved method, which provides a clearer picture of health risks, helps doctors tailor treatment plans to individuals, potentially lowering their risk of serious health issues. Who this helps: Patients with obesity.

PubMed

A discursive study of the reception of Lacanian ideas and their relation to Kleinianism (Uruguay, 1955-1982).

2021

The International journal of psycho-analysis

Grau-Pérez G, Milán G

Plain English
This research looked at how Lacanian ideas, a way of thinking about psychology, were received in Uruguay between 1955 and 1982, during a time when another approach called Kleinianism was more popular. The study examined various sources like papers, clinical cases, and seminar transcripts, revealing debates and compromises that shaped how Lacanian concepts were understood and integrated into Uruguayan psychoanalysis. Understanding these shifts is important because it can help clarify the evolution of psychological thinking in this region. Who this helps: This helps psychologists and psychoanalysts who want to understand the history of these theories.

PubMed

ASCs and their role in obesity and metabolic diseases.

2021

Trends in endocrinology and metabolism: TEM

Milan G, Conci S, Sanna M, Favaretto F, Bettini S +1 more

Plain English
This study looked at a specific type of cells known as adipose stromal/stem cells (ASCs) that are found in body fat and how they interact with their environment. The researchers found that when ASCs and their surroundings become dysfunctional, it can lead to issues like obesity and other metabolic diseases. Understanding these interactions better could lead to new ways to help people lose weight and maintain their weight loss, as well as advance treatments in regenerative medicine. Who this helps: Patients struggling with obesity and metabolic diseases.

PubMed

The mitochondrial protein Opa1 promotes adipocyte browning that is dependent on urea cycle metabolites.

2021

Nature metabolism

Bean C, Audano M, Varanita T, Favaretto F, Medaglia M +15 more

Plain English
This study looked at how a protein called Opa1 in mitochondria can help change white fat cells into brown fat cells, which could help with obesity. Researchers found that Opa1 levels were lower in people with obesity, and in mouse tests, increasing Opa1 led to healthier fat cells and better blood sugar control. This matters because it suggests a new way to combat obesity by targeting Opa1 and its role in fat cell transformation. Who this helps: This helps patients struggling with obesity and related health issues.

PubMed

Mini-Mental State Examination: new normative values on subjects in Southern Italy.

2020

Aging clinical and experimental research

Carpinelli Mazzi M, Iavarone A, Russo G, Musella C, Milan G +9 more

Plain English
This study looked at how well the Mini-Mental State Examination (MMSE) can detect signs of Alzheimer's disease in a more representative group of people from Southern Italy. Researchers tested 314 healthy individuals and 47 patients with Alzheimer's, finding that the average score for healthy participants was about 27.8 out of 30. They established a new cutoff score of 24.9, which was more effective at identifying those with Alzheimer's compared to the old score of 23.8, allowing them to accurately detect 44 out of 47 patients. Who this helps: This research benefits doctors and healthcare providers in diagnosing Alzheimer's disease more accurately.

PubMed

The closing-in phenomenon in constructional tasks in dementia and mild cognitive impairment.

2020

Neuropsychology

De Lucia N, Grossi D, Milan G, Trojano L

Plain English
This study looked at a behavior called closing-in, where people with dementia or mild cognitive impairment (MCI) copy drawings too closely or overlap them with the original. The researchers found that out of 162 patients with different types of dementia and 66 with MCI, this behavior was most common in Alzheimer's disease but varied in type across different conditions. Specifically, near-closing-in was more frequent in vascular dementia and MCI, while adherent-closing-in was predominant in Alzheimer's. Who this helps: This research benefits doctors and caregivers by providing insights into how different types of dementia affect drawing tasks, aiding in better diagnosis and understanding of patient behaviors.

PubMed

Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.

2020

Blood reviews

Spadarella G, Di Minno A, Milan G, Franco N, Polimeno M +2 more

Plain English
This study looks at new ways to treat patients with hemophilia A and B, who typically suffer from dangerous bleeding episodes. Researchers are testing non-factor treatments (like concizumab and fitusiran) that can help patients produce a necessary blood-clotting agent more effectively, with promising results from the use of emicizumab in patients. By understanding each patient's unique needs and risks, the goal is to personalize treatments, improve health outcomes, and reduce complications, allowing hemophilia patients to live more normal lives. Who this helps: This helps hemophilia patients and their families.

PubMed

CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.

2020

Journal of neuropathology and experimental neurology

Rendina A, Drongitis D, Donizetti A, Fucci L, Milan G +10 more

Plain English
This study looked at a family with early onset dementia, examining genetic factors linked to the condition. Researchers found 10 specific changes in the CD33 gene that are potentially connected to the dementia seen in these family members. They also observed that two genes, CD33 and SIGLECL1, were expressed at higher levels in dementia patients from the same region of Southern Italy, pointing to their role in the disease. Who this helps: This information benefits researchers and doctors working on early-onset dementia and Alzheimer’s disease.

PubMed

, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.

2020

Neurology

Costa B, Manzoni C, Bernal-Quiros M, Kia DA, Aguilar M +106 more

Plain English
In this study, researchers looked at how genetic factors, like ancestry and age when symptoms appear, affect different types of frontotemporal lobar degeneration (FTLD), specifically behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA). They found that 4% of the 1,396 cases had genetic changes linked to the disease, with bvFTD patients showing a higher rate of these changes at 5%, compared to just 0.8% in PPA patients. This information helps doctors better understand the genetic risks associated with these conditions, which could lead to more accurate diagnoses and targeted treatments. Who this helps: Patients with frontotemporal dementia and their doctors.

PubMed

Consensus clinical management guidelines for Alström syndrome.

2020

Orphanet journal of rare diseases

Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D +18 more

Plain English
This paper provides clear guidelines for managing Alström syndrome, a very rare genetic disorder that affects multiple organs and leads to various health issues like vision problems, hearing loss, heart disease, extreme weight gain, and diabetes. It highlights that with an incidence of about 1 in 1,000,000, many doctors may not recognize or properly treat this syndrome, but having a team of specialists can significantly improve the quality of life for patients if diagnosed early. The guidelines were developed based on a thorough review of existing research and real-world experiences to ensure appropriate care for those impacted by this complex condition. Who this helps: These guidelines benefit patients with Alström syndrome and their families, as well as the healthcare providers treating them.

PubMed

White Adipose Tissue Expansion in Multiple Symmetric Lipomatosis Is Associated with Upregulation of CK2, AKT and ERK1/2.

2020

International journal of molecular sciences

Sanna M, Borgo C, Compagnin C, Favaretto F, Vindigni V +10 more

Plain English
The study looked at a rare condition called multiple symmetric lipomatosis (MSL), where patients develop excess fatty tissue. Researchers found that in MSL patients, the expanded fatty tissue grows more quickly and contains more stem cells than normal tissue, showing high activity of specific proteins (AKT, CK2, and ERK1/2) that help fat cells grow. This information is important because it reveals potential new targets for treatments to manage MSL. Who this helps: This helps patients with multiple symmetric lipomatosis.

PubMed

The Italian version of the quick mild cognitive impairment (Qmci-I) screen: normative study on 307 healthy subjects.

2019

Aging clinical and experimental research

Iavarone A, Carpinelli Mazzi M, Russo G, D'Anna F, Peluso S +16 more

Plain English
Researchers developed the Italian version of a quick test for mild cognitive impairment called Qmci-I and tested it on 307 healthy individuals. They found that the average score was 64 out of 100, with older people scoring lower and those with higher education scoring better. This information is important because it helps establish a baseline for interpreting scores on this test, which can help in assessing cognitive health. Who this helps: This benefits doctors and healthcare providers assessing cognitive function in older adults.

PubMed

SCCA-IgM as a Potential Biomarker of Non-Alcoholic Fatty Liver Disease in Patients with Obesity, Prediabetes and Diabetes Undergoing Sleeve Gastrectomy.

2019

Obesity facts

Bettini S, Bordigato E, Milan G, Dal Pra' C, Favaretto F +9 more

Plain English
This study looked at a potential marker called SCCA-IgM to see if it could help identify non-alcoholic fatty liver disease (NAFLD) in people with obesity, prediabetes, and diabetes who are undergoing weight loss surgery. The researchers found that while 82% of prediabetic patients had liver fat, only 3 patients had SCCA-IgM levels that were considered high, and those levels did not change after surgery. The important takeaways are that losing weight through surgery significantly improved liver health in these patients, but SCCA-IgM does not appear to be useful for diagnosing or predicting NAFLD. Who this helps: This information benefits patients with obesity and related metabolic issues undergoing weight loss surgery.

PubMed

Enactment effect in patients with Alzheimer's disease.

2019

Journal of clinical and experimental neuropsychology

De Lucia N, Milan G, Conson M, Grossi D, Trojano L

Plain English
This study looked at how people with Alzheimer's disease (AD) remember action phrases when they either perform the actions themselves or watch someone else do them, compared to just reading or listening to the phrases. The researchers found that both Alzheimer's patients and healthy individuals had better memory for these action phrases when they performed or observed the actions rather than just hearing or seeing the words, with similar benefits for both groups. This is important because it shows that even with Alzheimer's, certain memory skills can still work well, which can help in developing effective therapies. Who this helps: This helps patients with Alzheimer's and their caregivers.

PubMed

Characterization of subcutaneous and omental adipose tissue in patients with obesity and with different degrees of glucose impairment.

2019

Scientific reports

Belligoli A, Compagnin C, Sanna M, Favaretto F, Fabris R +14 more

Plain English
This study looked at fat tissue in people with obesity and different levels of blood sugar control, comparing them to lean individuals. Researchers found that both types of fat tissue—subcutaneous (under the skin) and visceral (around the organs)—were notably larger and had fewer stem cells in those with type 2 diabetes and prediabetes. Targeting these fat changes early in prediabetic obese patients could help prevent further health issues related to blood sugar control. Who this helps: This benefits patients at risk for type 2 diabetes, especially those who are obese.

PubMed

Resting Energy Expenditure, Insulin Resistance andExpression in Human Subcutaneous and Visceral Adipose Tissue of Patients With Obesity.

2019

Frontiers in endocrinology

Bettini S, Favaretto F, Compagnin C, Belligoli A, Sanna M +8 more

Plain English
This study looked at how different body tissues in overweight individuals affect energy use at rest and how this relates to insulin resistance. Researchers found that in 209 patients, factors like fat mass and a measure of insulin resistance were strongly linked to resting energy expenditure, with specific fat tissue types showing different effects. Notably, a type of fat that mimics brown fat was more prevalent in those with severe obesity, indicating that the body might be trying to burn more energy to combat weight gain. Who this helps: This research benefits patients with obesity and healthcare providers by improving understanding of energy metabolism in obesity.

PubMed

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene.

2018

Acta ophthalmologica

Nasser F, Weisschuh N, Maffei P, Milan G, Heller C +3 more

Plain English
This study looked at the eye-related symptoms of seven patients with a type of retinal disease caused by changes in the ALMS1 gene, known as cone-rod dystrophy. All patients experienced blurry vision and sensitivity to light starting around 6 to 9 months old, but surprisingly, none reported problems seeing at night. Identifying the correct genetic cause of their symptoms is crucial, as it can lead to better management of their health. Who this helps: This benefits patients with genetic eye diseases and their doctors by improving diagnosis and treatment options.

PubMed

The Closing-In Phenomenon in an Ecological Walking Task.

2018

Journal of the International Neuropsychological Society : JINS

De Lucia N, Grossi D, Milan G, Trojano L

Plain English
Researchers studied how a specific behavior called "Closing-in" (CI), where Alzheimer's patients draw too close to a model, affects their ability to walk without bumping into things. They found that 68% of Alzheimer's patients displayed CI, and those patients also struggled more with daily activities and veered off course while walking, with 59% of them making errors while navigating around obstacles. This is important because it shows that noticing CI in drawing can help identify patients who may have more trouble with everyday tasks and mobility. Who this helps: This helps patients with Alzheimer's and their caregivers.

PubMed

Simultaneous resting-state FDG-PET/fMRI in Alzheimer Disease: Relationship between glucose metabolism and intrinsic activity.

2018

NeuroImage

Marchitelli R, Aiello M, Cachia A, Quarantelli M, Cavaliere C +8 more

Plain English
This study looked at how brain glucose use and brain activity are connected in people with Alzheimer’s disease (AD) by using advanced imaging techniques. They found that while healthy individuals showed a strong connection between glucose metabolism and brain activity (about 80%), this connection was reduced by 17% in patients with early stages of AD, dropping to around 67%. These findings highlight that problems with glucose use in the brain may contribute to the breakdown of communication between brain regions in Alzheimer’s patients. Who this helps: This helps patients and healthcare providers understand the relationship between metabolism and brain function in Alzheimer's disease.

PubMed

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

2017

Human mutation

Astuti D, Sabir A, Fulton P, Zatyka M, Williams D +29 more

Plain English
This study created a database that gathers genetic information about specific types of diabetes caused by single gene mutations, including Wolfram and Alström syndromes, featuring a total of 628 identified gene changes. They found that specific genetic changes in the WFS1 gene could predict whether someone has Wolfram syndrome with a 79% accuracy and that those with less serious changes in the same gene could show symptoms like diabetes or deafness without developing the full syndrome. This research is important because it improves how doctors can predict and manage these rare forms of diabetes, ultimately leading to better patient care. Who this helps: This benefits patients with monogenic diabetes syndromes and their doctors.

PubMed

Increased mitochondrial calcium uniporter in adipocytes underlies mitochondrial alterations associated with insulin resistance.

2017

American journal of physiology. Endocrinology and metabolism

Wright LE, Vecellio Reane D, Milan G, Terrin A, Di Bello G +9 more

Plain English
This study explored how changes in calcium levels within fat cells are linked to insulin resistance, which affects how our bodies process sugar. Researchers found that in both mice and people with obesity, the calcium uptake in fat cells increased as insulin resistance worsened, with specific components of the mitochondrial calcium uniporter (MCU) being more active. Importantly, when people lost weight through surgery, the calcium levels returned to normal, suggesting that managing calcium in these cells could help improve insulin function and metabolism. Who this helps: This benefits patients with obesity and diabetes, as well as healthcare providers treating these conditions.

PubMed

CK2 modulates adipocyte insulin-signaling and is up-regulated in human obesity.

2017

Scientific reports

Borgo C, Milan G, Favaretto F, Stasi F, Fabris R +10 more

Plain English
This study looked at a protein called CK2 and its role in how fat cells respond to insulin, which is important for controlling blood sugar. The researchers found that higher levels of CK2 are present in fat cells from both obese mice and humans, and this increase contributes to problems with insulin signaling. Importantly, when obese patients lose weight through surgery or dieting, the levels of CK2 return to normal, indicating it could be a potential target for treating obesity. Who this helps: This research helps patients with obesity and diabetes by identifying a new target for treatment.

PubMed

Publication data sourced from PubMed . Plain-English summaries generated by AI. Not medical advice.