F Mangiola

Digestive Endoscopy Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.; Department of Translational Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

38 publications 1998 – 2025 ORCID

What does F Mangiola research?

F Mangiola studies how gut bacteria, dietary factors, and specific supplements can influence health, particularly in relation to autism, mood disorders, and conditions associated with wheat consumption, such as celiac disease. For example, their research has shown that changes in gut microbiota can be linked to autism and mood disorders, suggesting that improving gut health may enhance treatment outcomes. Additionally, they have explored how white mulberry extract can aid in weight loss for obese individuals, which highlights the impact of dietary supplements on managing obesity.

Key findings

  • In the study on gut microbiota, changes were linked to autism and mood disorders, indicating that gut health may be crucial for treatment.
  • Participants using white mulberry extract lost about 9 kg over three months, compared to a 3.2 kg loss in those taking a placebo, demonstrating its effectiveness for weight loss.
  • Their historical analysis revealed that awareness of celiac disease has increased, suggesting it may be more common now due to better symptom recognition and diagnostic methods.

Frequently asked questions

Does Dr. Mangiola study autism?
Yes, Dr. Mangiola focuses on the relationship between gut health and autism, exploring how gut bacteria can influence this condition.
What treatments has Dr. Mangiola researched for obesity?
Dr. Mangiola has researched white mulberry extract as a supplement to support weight loss in conjunction with a low-calorie diet.
Is Dr. Mangiola's work relevant to celiac disease?
Yes, Dr. Mangiola explores the history and recognition of celiac disease, contributing to better diagnosis and management.
What are wheat-related disorders that Dr. Mangiola studies?
They study conditions like celiac disease and non-celiac gluten sensitivity, which cause health issues for individuals intolerant to gluten.
How might gut health affect mood disorders?
Dr. Mangiola's research suggests that improving gut microbiota could have a beneficial impact on mood disorders, potentially leading to better treatment outcomes.

Publications in plain English

E-Gastryal+ Magnesium Alginate Plus PPI vs. PPI Alone in GERD: Results from the GENYALRandomized Controlled Trial.

2025

Journal of clinical medicine

Spada C, Salvi D, Pecere S, Mangiola F, Varca S +6 more

Plain English
This study looked at the effectiveness of a product called E-Gastryal+ Magnesium Alginate when used with the common GERD medication omeprazole, compared to using omeprazole alone. Researchers found that people taking the combination used significantly fewer rescue medications—21 tablets compared to 40.9 for those on omeprazole alone—and experienced better symptom relief over time. This is important because it suggests a better way to manage GERD symptoms for those who don’t get enough relief from standard treatments. Who this helps: This helps patients suffering from GERD who don't respond well to existing medications.

PubMed

POEM for non-achalasia spastic oesophageal motility disorders.

2024

Best practice & research. Clinical gastroenterology

Familiari P, Mangiola F, Parmigiani M, Landi R

Plain English
This study focused on a group of rare esophageal disorders known as non-achalasia esophageal motility disorders (NAOMD), which cause symptoms like difficulty swallowing and chest pain. The researchers found that a treatment called Peroral Endoscopic Myotomy (POEM) shows promise for these conditions, but most studies so far have involved small numbers of patients and have not tracked their long-term results. This matters because finding effective treatments can significantly improve the quality of life for individuals suffering from these painful and challenging disorders. Who this helps: Patients with non-achalasia esophageal motility disorders.

PubMed

Long versus short peroral endoscopic myotomy for the treatment of achalasia: results of a non-inferiority randomised controlled trial.

2023

Gut

Familiari P, Borrelli de Andreis F, Landi R, Mangiola F, Boskoski I +3 more

Plain English
This study compared two methods of treating achalasia, a swallowing disorder, using a technique called peroral endoscopic myotomy (POEM). Researchers found that an 8 cm cut was just as effective as a 13 cm cut—showing success rates of 98% and 89% respectively—while the shorter procedure also took less time to perform (40 minutes compared to 50 minutes). This is important because it means patients can have a quicker treatment without losing effectiveness, although it did not lower the risk of acid reflux problems. Who this helps: Patients with achalasia and their doctors.

PubMed

Endoscopic treatment of intramural fistula and mucosal tear after peroral endoscopic myotomy.

2021

Endoscopy

Familiari P, Landi R, Mangiola F, Vita C, Boskoski I +2 more

PubMed

Poem Versus Laparoscopic Heller Myotomy in the Treatment of Esophageal Achalasia: A Case-Control Study from Two High Volume Centers Using the Propensity Score.

2020

Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract

Costantini A, Familiari P, Costantini M, Salvador R, Valmasoni M +7 more

Plain English
This study compared two treatments for a condition called esophageal achalasia: a newer method called POEM and a traditional surgery called laparoscopic Heller myotomy (LHD). Researchers found that both treatments effectively reduce symptoms, with 99.3% of POEM patients and 97.7% of LHD patients showing improved scores after treatment. However, POEM was quicker and required less time in the hospital, even though it was linked to more cases of acid reflux and esophagitis compared to LHD. Who this helps: This research benefits patients suffering from esophageal achalasia by providing options for effective treatment.

PubMed

Increasedabundance is associated with clinical improvement in patients receiving rifaximin treatment.

2020

Beneficial microbes

Ponziani FR, Scaldaferri F, De Siena M, Mangiola F, Matteo MV +8 more

Plain English
This study looked at how treatment with rifaximin, an antibiotic, affects the gut bacteria in patients with digestive disorders like ulcerative colitis and irritable bowel syndrome. It found that 40% of patients reported improvements in their symptoms after taking rifaximin, and those who improved showed a significant increase in certain beneficial gut bacteria. This matters because it indicates that changes in gut bacteria are linked to better health outcomes for patients undergoing this treatment. Who this helps: Patients with gastrointestinal diseases.

PubMed

Endoscopic management of a tubular esophageal duplication in a young adult.

2020

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy

Familiari P, Landi R, Mangiola F, Vita CV, Costamagna G

PubMed

Endoscopic treatment of GERD: is there still a chance?

2019

Endoscopy international open

Familiari P, Mangiola F, Landi R, Costamagna G

PubMed

Eosinophilic oesophagitis (in nickel-allergic patient) regressed after nickel oral desensitization: A case report.

2019

International journal of immunopathology and pharmacology

Nucera E, Chini R, Rizzi A, Schiavino D, Buonomo A +6 more

Plain English
Researchers studied a 48-year-old woman with eosinophilic esophagitis (EoE) and nickel allergy who did not improve with usual steroid treatment. After a year of treatment with nickel oral desensitization while following a nickel-free diet, her symptoms and inflammation completely resolved, allowing her to eat previously restricted foods again. This is significant because it shows that nickel desensitization can effectively treat EoE in patients with nickel allergies, which may help many others with similar conditions. Who this helps: This helps patients with eosinophilic esophagitis and nickel allergies.

PubMed

Gut microbiota and aging.

2018

European review for medical and pharmacological sciences

Mangiola F, Nicoletti A, Gasbarrini A, Ponziani FR

Plain English
This study looked at the role of gut bacteria in aging and how changes in these bacteria can impact our health, particularly in diseases like Parkinson's and Alzheimer's. Researchers found that older adults often have imbalances in their gut bacteria, which could affect inflammation and cognitive functions. Understanding and adjusting gut bacteria could help promote healthier aging and slow down the progression of age-related diseases. Who this helps: This helps patients, especially the elderly and those at risk for neurodegenerative diseases.

PubMed

Future of liver disease in the era of direct acting antivirals for the treatment of hepatitis C.

2017

World journal of hepatology

Ponziani FR, Mangiola F, Binda C, Zocco MA, Siciliano M +4 more

Plain English
This study looks at how new antiviral medications for hepatitis C (HCV) are improving treatment results, especially for people with serious liver damage or those who need liver transplants. Over the past three years, these direct acting antivirals have shown high success rates in clearing the virus and are well-tolerated by patients. While we don't have long-term results yet, previous treatment options suggest that these new drugs could lead to fewer deaths and liver cancer cases, as well as improved liver health for those affected by HCV. Who this helps: This helps patients with hepatitis C, particularly those with advanced liver disease or who are waiting for a liver transplant.

PubMed

Screening of colorectal cancer: present and future.

2017

Expert review of anticancer therapy

Maida M, Macaluso FS, Ianiro G, Mangiola F, Sinagra E +5 more

Plain English
This research paper looks at how colorectal cancer (CRC) is currently screened and what methods are available. It found that about 60-70% of people with symptoms are diagnosed at an advanced stage, which could be improved by better screening. There are various tests available, but no single method is the best for everyone; regular colonoscopy every 10 years or annual fecal tests are recommended for those at normal risk, while specific guidelines exist for high-risk individuals. Who this helps: This benefits patients at risk for colorectal cancer and doctors involved in their care.

PubMed

Role and mechanisms of action of Escherichia coli Nissle 1917 in the maintenance of remission in ulcerative colitis patients: An update.

2016

World journal of gastroenterology

Scaldaferri F, Gerardi V, Mangiola F, Lopetuso LR, Pizzoferrato M +6 more

Plain English
This study looks at how a specific strain of bacteria, Escherichia coli Nissle 1917, can help keep ulcerative colitis (UC) patients in remission. It found that EcN is effective as an alternative treatment to standard medications, showing promise in maintaining remission for these patients. This is important because UC is a chronic condition that can be hard to treat, and having effective alternatives can improve patients' quality of life. Who this helps: This helps patients with ulcerative colitis looking for effective treatment options.

PubMed

Helicobacter pylori infection is associated with high methane production during lactulose breath test.

2016

European review for medical and pharmacological sciences

Del Zompo F, Ojetti V, Feliciani D, Mangiola F, Petruzziello C +4 more

Plain English
This study looked at how an infection with Helicobacter pylori (H. pylori) relates to the production of methane gas in patients undergoing a specific breath test. Researchers found that 47.2% of patients with H. pylori produced higher levels of methane, compared to 26% of those without the infection. This matters because it suggests that H. pylori may affect the balance of bacteria in the gut, which could lead to digestive issues. Who this helps: This information benefits patients experiencing gastrointestinal symptoms and doctors treating them.

PubMed

Gut microbiota in autism and mood disorders.

2016

World journal of gastroenterology

Mangiola F, Ianiro G, Franceschi F, Fagiuoli S, Gasbarrini G +1 more

Plain English
This research focused on the relationship between gut bacteria and conditions like autism and mood disorders. The study found that changes in gut microbiota are linked to these neuropsychiatric conditions, suggesting that improving gut health could play an important role in treatment. For instance, current therapies targeting gut bacteria have shown promising outcomes, indicating potential for better management of these disorders. Who this helps: This helps patients with autism and mood disorders, as well as their families and healthcare providers.

PubMed

Histopathology of segmental colitis associated with diverticulosis resembles inflammatory bowel diseases.

2015

Journal of clinical gastroenterology

Tursi A, Inchingolo CD, Picchio M, Elisei W, Mangiola F +1 more

PubMed

Levothyroxine absorption in health and disease, and new therapeutic perspectives.

2014

European review for medical and pharmacological sciences

Ianiro G, Mangiola F, Di Rienzo TA, Bibbò S, Franceschi F +2 more

Plain English
This study looked at how well people absorb levothyroxine, a medication for thyroid hormone deficiency. It found that factors like age, diet (certain foods and drinks), some medications, and gastrointestinal diseases can significantly reduce how much levothyroxine the body can use. The researchers suggest that creating new forms of levothyroxine, like liquid or softgel versions, may help patients who struggle with absorption issues. Who this helps: This benefits patients with thyroid hormone deficiencies, especially those who have trouble absorbing standard tablet forms of medication.

PubMed

Coeliac disease: an old or a new disease? History of a pathology.

2014

Internal and emergency medicine

Gasbarrini GB, Mangiola F, Gerardi V, Ianiro G, Corazza GR +1 more

Plain English
This study looked into the long history of celiac disease, which has been recognized since around 250 A.D., and how our understanding of it has changed over time. Researchers found that while celiac disease was once thought to be rare, it may actually be more common now due to better recognition of its symptoms and advances in diagnosis. It matters because improved awareness and testing can help more people get diagnosed and treated effectively, leading to better health outcomes. Who this helps: This helps patients with celiac disease and those at risk of developing it.

PubMed

White mulberry supplementation as adjuvant treatment of obesity.

2014

Journal of biological regulators and homeostatic agents

Da Villa G, Ianiro G, Mangiola F, Del Toma E, Vitale A +2 more

Plain English
This study looked at how a Japanese white mulberry extract affects weight loss in obese and overweight individuals when combined with a low-calorie diet. Over three months, participants taking the mulberry extract lost about 9 kg, which is roughly 10% of their starting weight, while those taking a placebo lost only about 3.2 kg. These findings are significant because they show that the mulberry extract can enhance weight loss and lower insulin and glucose levels, which is important for managing obesity. Who this helps: This research benefits people struggling with obesity and overweight issues.

PubMed

Wheat-related disorders: A broad spectrum of 'evolving' diseases.

2014

United European gastroenterology journal

Gasbarrini G, Mangiola F

Plain English
This research paper looked at various health problems caused by eating wheat and related grains, focusing on conditions like coeliac disease, which affects nutrient absorption in some people, and non-coeliac gluten sensitivity, where individuals experience symptoms from gluten despite not having coeliac disease or a wheat allergy. The study emphasizes that these issues arise because some people cannot properly tolerate gluten, leading to various digestive and other health problems. Understanding these conditions is important because they help identify and manage the challenges faced by people who experience adverse reactions to wheat. Who this helps: This helps patients with wheat-related disorders and their healthcare providers.

PubMed

Recurrent use of the Emergency Department in patients with anxiety disorder.

2013

European review for medical and pharmacological sciences

Buccelletti F, Ojetti V, Merra G, Carroccia A, Marsiliani D +5 more

Plain English
This study looked at patients with panic disorder who frequently visit the Emergency Department (ED) over a ten-year period. Out of 469 patients, 361 had multiple ED visits for panic attacks, while 108 only visited once. The findings showed that younger men under 40, especially those with heart-related symptoms and a history of psychiatric issues, were more likely to return to the ED, highlighting the need for better support and targeted interventions for these patients. Who this helps: This research helps patients with anxiety disorders and healthcare providers by identifying high-risk individuals for panic attacks.

PubMed

Gut microbial flora, prebiotics, and probiotics in IBD: their current usage and utility.

2013

BioMed research international

Scaldaferri F, Gerardi V, Lopetuso LR, Del Zompo F, Mangiola F +8 more

Plain English
The study looked at how gut bacteria (microbiota) and certain supplements like prebiotics and probiotics affect people with inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis. It found that gut bacteria play a significant role in these conditions and that using prebiotics and probiotics can benefit patients by helping to balance gut bacteria. This is important because it gives new options for managing a disease that can be challenging to treat. Who this helps: Patients with inflammatory bowel diseases.

PubMed

Specific 13C functional pathways as diagnostic targets in gastroenterology breath-tests: tricks for a correct interpretation.

2013

European review for medical and pharmacological sciences

Pizzoferrato M, Del Zompo F, Mangiola F, Lopetuso LR, Petito V +3 more

Plain English
This study looked at how breath tests using a special form of carbon (13C) can help diagnose digestive issues, such as infections or problems with how the stomach or pancreas work. The research found that measuring the ratio of 13C to another carbon isotope (12C) provides valuable information about these health conditions, aiding in more accurate diagnoses. This matters because these breath tests are safe, easy to use, and can help doctors identify problems without invasive procedures. Who this helps: Patients with digestive issues seeking accurate and non-invasive testing.

PubMed

Charcot-Marie-Tooth 1A patients with low level of impairment have a higher energy cost of walking than healthy individuals.

2011

Neuromuscular disorders : NMD

Menotti F, Felici F, Damiani A, Mangiola F, Vannicelli R +1 more

Plain English
This study looked at how much energy people with Charcot-Marie-Tooth 1A (CMT1A) disease use when walking compared to healthy people. It found that even though CMT1A patients walked slower, they used more energy per step: 2.27 Joules per kilogram per meter at a comfortable pace, compared to 1.92 in healthy individuals. This is important because it shows that even people with mild symptoms of CMT1A may have to exert more effort to walk than those without the condition. Who this helps: This helps patients with CMT1A and their doctors understand the energy challenges they face during walking.

PubMed

Letter by Giglio and Mangiola regarding article, "Cardiomyopathy in Duchenne muscular dystrophy carrier and her diseased son: similar pattern revealed by cardiovascular MRI".

2010

Circulation

Giglio V, Mangiola F

PubMed

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables.

2009

Journal of neurology, neurosurgery, and psychiatry

Cudia P, Bernasconi P, Chiodelli R, Mangiola F, Bellocci F +13 more

Plain English
This study looked at how certain clinical and genetic factors relate to the risk of heart rhythm problems, or arrhythmias, in patients with type 1 myotonic dystrophy (DM1). Out of 245 patients examined, 63 had arrhythmias, and 40 needed a heart device. Men were more than twice as likely to have arrhythmias compared to women, and each additional year of age increased risk by 3%, while patients with severe muscle involvement faced a 12 times higher risk than those with mild issues. Who this helps: This helps patients with type 1 myotonic dystrophy and their doctors understand their risks for heart problems.

PubMed

Risk of arrhythmias in myotonic dystrophy: trial design of the RAMYD study.

2009

Journal of cardiovascular medicine (Hagerstown, Md.)

Dello Russo A, Mangiola F, Della Bella P, Nigro G, Melacini P +17 more

Plain English
The study examined how heart problems, specifically arrhythmias, affect people with myotonic dystrophy type 1 (DM1), a common muscular disease in adults. Researchers tracked over 500 DM1 patients for two years to see how often severe heart issues, like sudden death or serious irregular heartbeats, occurred. They want to identify factors that could predict these heart problems to improve care; initial findings suggest both slow and fast heart rhythms might lead to sudden death in these patients. Who this helps: This research helps patients with myotonic dystrophy and their doctors by improving understanding and treatment of heart-related risks.

PubMed

Feeding problems and malnutrition in spinal muscular atrophy type II.

2008

Neuromuscular disorders : NMD

Messina S, Pane M, De Rose P, Vasta I, Sorleti D +6 more

Plain English
This study looked at feeding problems and weight issues in 122 people with Spinal Muscular Atrophy (SMA) type II, ages 1 to 47. The findings showed that while 5% of the patients were heavier than average, 37% were significantly underweight, and many faced difficulties with chewing (28%) and swallowing (25%). This matters because it highlights the need for better care and monitoring for feeding challenges in SMA patients to ensure their health and well-being. Who this helps: This helps patients with SMA and the doctors caring for them.

PubMed

Integrated backscatter in Becker muscular dystrophy patients with functionally normal heart: myocardial ultrasound tissue characterization study.

2006

Journal of the American College of Cardiology

Giglio V, Pasceri V, Messano L, Parisi Q, Rinelli G +9 more

PubMed

Heart rate turbulence as a noninvasive risk predictor of ventricular tachyarrhythmias in myotonic dystrophy type 1.

2006

Journal of cardiovascular electrophysiology

Casella M, Dello Russo A, Pace M, Pelargonio G, Ierardi C +9 more

Plain English
This study looked at how heart rate changes, known as heart rate turbulence (HRT), can help predict the risk of serious heart problems in patients with myotonic dystrophy type 1 (MD1). Researchers tested 29 MD1 patients and found that those at higher risk of dangerous heart rhythms had a different heart rate response (Turbulence Onset of 0.88%) compared to those without this risk (-2.49% for noninducible patients), highlighting the importance of HRT. This is significant because it offers a simple way to identify MD1 patients who may be at greater risk of life-threatening heart issues. Who this helps: This helps patients with myotonic dystrophy type 1 and their doctors in managing heart health.

PubMed

Feeding problems and weight gain in Duchenne muscular dystrophy.

2006

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Pane M, Vasta I, Messina S, Sorleti D, Aloysius A +5 more

Plain English
This study looked at feeding problems and weight changes in 118 patients with Duchenne muscular dystrophy (DMD), aged 13 to 36 years. Researchers found that many patients had difficulty chewing, and this worsened as they got older. However, serious swallowing issues, like choking, were rare, with only 7 patients experiencing aspiration pneumonia. Most patients were underweight as they aged, particularly after 18, indicating the need for better monitoring and care. Who this helps: This helps patients and their families, as well as doctors managing DMD care.

PubMed

Impaired primary hemostasis with normal platelet function in Duchenne muscular dystrophy during highly-invasive spinal surgery.

2005

Neuromuscular disorders : NMD

Turturro F, Rocca B, Gumina S, De Cristofaro R, Mangiola F +4 more

Plain English
Researchers studied how blood clotting works during surgery in children with Duchenne muscular dystrophy (DMD), comparing it to other conditions like scoliosis and cerebral palsy. They found that DMD patients lost an average of 3,495 ml of blood during surgery, which was significantly more than patients with other conditions, who lost between 2,071 and 2,582 ml. This matters because, even though the platelets (which help with clotting) function normally, DMD patients had longer bleeding times, indicating that their blood vessels don't react properly during surgery, leading to higher blood loss. Who this helps: This helps doctors and patients with Duchenne muscular dystrophy plan for safer surgeries.

PubMed

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

2004

Archives of neurology

Modoni A, Silvestri G, Pomponi MG, Mangiola F, Tonali PA +1 more

Plain English
This study looked at how myotonic dystrophy type 1 (DM1) affects thinking and memory in patients. Researchers tested 70 patients and found two main types of cognitive issues: younger patients with congenital DM1 showed a pattern similar to mental retardation, while adults with classic DM1 experienced a decline in thinking skills as they aged. The study found that cognitive problems could occur even in patients with minor genetic changes. Who this helps: This research helps patients with myotonic dystrophy type 1 and their doctors understand the cognitive challenges they may face.

PubMed

Ultrasound tissue characterization detects preclinical myocardial structural changes in children affected by Duchenne muscular dystrophy.

2003

Journal of the American College of Cardiology

Giglio V, Pasceri V, Messano L, Mangiola F, Pasquini L +6 more

Plain English
This study looked at early signs of heart problems in children with Duchenne muscular dystrophy (DMD), a condition that affects muscle strength. Researchers used ultrasound technology to measure heart tissue characteristics in 20 children with DMD, ages 4 to 10, and compared them to 20 healthy kids. They found that the heart tissue of children with DMD showed notable differences, with much lower average measurements in one test (4.4 dB compared to 8.8 dB in healthy kids) and higher averages in another test (36.4 dB compared to 26.9 dB), indicating early structural changes before any visible heart problems occurred. Who this helps: This helps children with DMD and their doctors by providing early detection of potential heart issues.

PubMed

Impairment of cardiac autonomic function in patients with Duchenne muscular dystrophy: relationship to myocardial and respiratory function.

2001

American heart journal

Lanza GA, Dello Russo A, Giglio V, De Luca L, Messano L +7 more

Plain English
This study looked at how the nervous system affects heart and lung function in 60 patients with Duchenne muscular dystrophy (DMD). Researchers found that key measures of heart function were significantly lower in these patients compared to healthy peers—11.6% of heartbeats varied too much in DMD patients versus 27.3% in healthy ones, and heart rate variability was noticeably reduced. These findings matter because they highlight severe issues with the body’s automatic control of the heart in DMD, which could impact overall health and care strategies. Who this helps: This research benefits patients with Duchenne muscular dystrophy and their doctors by providing insight into their heart and respiratory health.

PubMed

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.

1999

Annals of neurology

Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L +10 more

Plain English
This study examined the genetic markers related to facioscapulohumeral muscular dystrophy (FSHD) in 122 families and compared them to 230 healthy individuals. They found that 93% of families had a specific genetic fragment linked to the condition, and the size of this fragment was connected to the severity of symptoms: 100% of patients with smaller fragments (10 to 13 kb) experienced severe lower limb issues, compared to only 19% of those with larger fragments (over 21 kb). This information is important as it helps doctors understand how severe the disease might be for patients based on their genetic profile, aiding in better treatment and counseling. Who this helps: This helps patients and doctors manage expectations and treatment options for individuals with FSHD.

PubMed

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.

1999

Neuromuscular disorders : NMD

Galluzzi G, Deidda G, Cacurri S, Colantoni L, Piazzo N +9 more

Plain English
This study looked at genetic changes in families affected by facioscapulohumeral muscular dystrophy (FSHD), a muscle disease. Researchers analyzed DNA from 145 FSHD families and discovered the same genetic marker in healthy people who might pass the disease to their children. They also tested 19 fetuses, finding that in 9 cases the risk of FSHD was present, while the disease was ruled out in 10 fetuses. This research is important because it helps provide accurate genetic counseling and reliable prenatal testing for families at risk of FSHD. Who this helps: Patients and families at risk of facioscapulohumeral muscular dystrophy.

PubMed

Functional involvement of cerebral cortex in Duchenne muscular dystrophy.

1998

Muscle & nerve

Di Lazzaro V, Restuccia D, Servidei S, Nardone R, Oliviero A +4 more

Plain English
This study looked at how Duchenne muscular dystrophy affects the brain's ability to control muscles by testing brain stimulation in four patients and four healthy individuals. The researchers found that while the time it takes for signals to reach muscles was normal for patients, their brains required a stronger magnetic stimulation to respond compared to healthy subjects, indicating decreased brain activity. This is important because it shows that the disease may also affect the brain, not just the muscles, which could influence how patients are treated. Who this helps: This helps patients with Duchenne muscular dystrophy and their doctors in understanding the neurological aspects of the disease.

PubMed

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