Donato Rigante

Department of Life Sciences and Public Health, Faculty of Medicine and Surgery, Università Cattolica del Sacro Cuore, 00168, Rome, Italy.; Pediatric Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy.; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168, Roma, Italy.

50 publications 2024 – 2026 ORCID

What does Donato Rigante research?

Dr. Rigante studies a variety of autoinflammatory diseases, including PFAPA syndrome, Behçet's disease, Still's disease, and Familial Mediterranean fever (FMF). His research explores how genetic factors and vitamin D levels affect the severity and management of these conditions. He looks into the risks associated with different symptoms, such as how skin and oral issues in Behçet's disease can lead to serious complications like organ involvement and eye issues. By analyzing large patient datasets, he identifies predictors of disease progression and effective treatment approaches.

Key findings

  • In a study of 328 Behçet's patients, 25% developed major organ involvement, significantly linked to severe oral sores, increasing complication risks by 12.76 times.
  • Among 518 Still's disease patients, 63.9% exhibited a distinctive salmon-colored rash, with younger patients showing a higher prevalence of skin issues.
  • In a cohort of 78 children with acute rheumatic fever, 85% showed signs of rheumatic heart disease, with those affected having an average vitamin D level of 18 ng/mL compared to 38 ng/mL in those without heart issues.
  • Research found that 30% of 151 children with PFAPA syndrome had low vitamin D, correlating with longer-lasting symptoms and earlier onset of the disease.
  • In a study of 73 Still disease patients, 90% had pericarditis, while 26% had myocarditis, indicating severe risks associated with heart inflammation in these patients.

Frequently asked questions

Does Dr. Rigante study PFAPA syndrome?
Yes, he researches PFAPA syndrome and its links to genetic factors and vitamin D levels.
What treatments has Dr. Rigante researched for Behçet's disease?
He has studied the complications related to Behçet's disease and how certain symptoms can indicate a higher risk of organ damage.
Is Dr. Rigante's work relevant to patients with Still's disease?
Yes, his research examines skin and heart complications in Still's disease, providing insights for better management of these patients.
How does Dr. Rigante's work help children with rheumatic fever?
His studies highlight the connection between vitamin D levels and heart problems in children with acute rheumatic fever, which is crucial for preventive care.
What can I learn from Dr. Rigante's findings on Familial Mediterranean fever?
His research identifies risk factors for kidney problems in FMF patients, helping doctors manage their treatments more effectively.

Publications in plain English

Biological therapies in paediatric Behçet's disease: results of an international collaborative study by the PRES Vasculitis Working Party.

2026

Rheumatology (Oxford, England)

Akgün Ö, Demirkan FG, Koné-Paut I, Coşkuner T, Çam V +27 more

Plain English
This study looked at how effective and safe biologic therapies are for children with Behçet's disease, a rare inflammatory condition. It analyzed data from 109 patients across Turkey and Europe, finding that most received treatments targeting eye, skin, or neurological issues. While almost all patients showed improvements, the specific drugs used (adalimumab and infliximab) had similar remission rates, and only one serious infection occurred, suggesting these therapies are generally safe and effective. Who this helps: This helps pediatric patients with Behçet's disease and their healthcare providers by identifying effective treatment options.

PubMed

Idiopathic systemic capillary leak syndrome and related shock in PICU: an underdiagnosed disease?

2026

Journal of anesthesia, analgesia and critical care

Piastra M, Portaccio I, Dondi A, Picconi E, Morena TC +5 more

Plain English
This study looked at idiopathic systemic capillary leak syndrome (SCLS) in young children in Italy to understand how often it is misdiagnosed and its effects. Researchers analyzed six children who had seven episodes of SCLS and found that 75% of these cases were triggered by viral infections, especially the flu. The children experienced serious complications including muscle breakdown and kidney injury, and they had an average hospital stay of 20 days, with one patient sadly dying from a heart complication. Who this helps: This research helps pediatricians and other doctors caring for children with severe shock symptoms by improving diagnosis and treatment for SCLS.

PubMed

Gonadotropins in Mini-Puberty: Pathophysiological and Therapeutic Implications for Male Congenital Hypogonadism.

2026

Children (Basel, Switzerland)

Cammisa I, Rigante D, Cipolla C

Plain English
This study explored how early treatment with gonadotropins (hormones that stimulate the testes) can help male infants who have congenital hypogonadotropic hypogonadism (CHH), a condition that affects testicular growth and hormone production. Researchers looked at 12 studies involving 95 infants and found that gonadotropin therapy led to clear improvements: testosterone levels increased significantly, and many infants showed better growth in penis size and testicle development. This matters because early treatment can help ensure proper sexual and reproductive development, which is crucial for these boys. Who this helps: This research benefits male infants with congenital hypogonadotropic hypogonadism and their families.

PubMed

Cutaneous Clues in Kawasaki Disease: Clinical Implications and Differential Diagnosis with Multisystem Inflammatory Syndrome in Children.

2026

Journal of clinical medicine

Carlini F, Chiesa AM, Verzina M, Sassetti C, Rigante D +1 more

Plain English
This study examined the skin symptoms in two inflammatory conditions in children: Kawasaki disease (KD) and multisystem inflammatory syndrome in children (MIS-C). Researchers found that both conditions displayed a wide variety of skin issues, like rashes and other unusual lesions, making them hard to tell apart. Recognizing these skin signs early is crucial because delays in diagnosis can lead to serious heart problems. Who this helps: This helps doctors and healthcare providers by improving their ability to diagnose and treat affected children quickly.

PubMed

Investigating Properties of Palmitoylethanolamide in Physiology and Disease: Far Beyond an Anti-Inflammatory Shield.

2026

Diseases (Basel, Switzerland)

Veredice C, Turrini I, Pelanda H, Contaldo I, Rigante D

Plain English
This research looked at palmitoylethanolamide (PEA), a compound that might help reduce inflammation in various health conditions. The study found that PEA not only helps with inflammation but also supports cell health by regulating certain immune cells in the brain. Using an improved version of PEA, researchers noted increased effectiveness for treating patients with complex health issues, potentially offering better relief than traditional anti-inflammatory options. Who this helps: This benefits patients dealing with chronic inflammatory conditions, including those with nerve-related issues.

PubMed

Highlights on the Contribution of Gut Microbiota to Immune-Mediated Diseases in Childhood.

2026

Mediterranean journal of hematology and infectious diseases

Pelanda H, Rulli E, Sultanov M, Adornato S, Rigante D

Plain English
This research paper examines how the bacteria living in our gut, known as gut microbiota, influence immune system diseases in children. It discusses how changes in these gut bacteria during early childhood can lead to various inflammatory diseases, like juvenile arthritis and Kawasaki disease. The findings highlight that a healthy balance of gut microbiota is crucial for preventing these conditions and suggest new treatment strategies could be developed by understanding these relationships better. Who this helps: This benefits children at risk for immune-related diseases and their healthcare providers.

PubMed

Cross-cultural adaptation of the Italian version of the "Child and Youth Mental Health Instrument for Developmental Disabilities" (I-ChYMH-DD).

2026

Italian journal of pediatrics

Sforza E, Leoni C, De Rosa E, Bellani J, Viscogliosi G +10 more

PubMed

Description of a Large Family with Periodic Fever Carrying a Variant inGene: A Possible Novel Modulator of Inflammation in Autoinflammatory Diseases.

2026

International journal of molecular sciences

Buttarelli M, Rapari G, Riccio M, Manna R, Rigante D +1 more

Plain English
Researchers studied a large family with a type of recurring fever called PFAPA syndrome, which is caused by issues in the body's immune response. They found a rare genetic change in a gene called RXFP1 that seemed to be linked to the fever in all affected family members. This discovery is important because it could reveal new ways to understand and treat autoinflammatory diseases. Who this helps: This helps patients with recurrent fever syndromes and their doctors.

PubMed

Immune Biomarker Signature in the Diagnostic Workup of Fever Without Source: A Pilot Study.

2026

Mediterranean journal of hematology and infectious diseases

Di Francesco AM, Pasciuto G, Gerardino L, Sicignano LL, Verrecchia E +3 more

PubMed

Unfolding dermatological spectrum of Still's disease: a cohort study from the International AIDA Network Still's Disease Registry.

2026

Rheumatology (Oxford, England)

Calabrese L, D'Onghia M, Cartocci A, Hinojosa-Azaola A, Torres-Ruiz J +75 more

Plain English
This study looked at the skin problems experienced by patients with Still's disease, a type of inflammatory disorder. Out of 518 patients, the most common skin issues included a salmon-colored rash (seen in 63.9% of cases) and other types of skin lesions. The research found that younger patients (under 16 years old) had more of these rashes, and it also highlighted differences based on ethnicity; for example, Hispanic patients had more varied skin issues compared to White and Arab patients. Who this helps: This research helps doctors better understand the skin symptoms of Still's disease to improve diagnosis and treatment for patients.

PubMed

The Risk of Developing Ocular Involvement Among Behçet's Disease Patients Presenting with Mucocutaneous Involvement at Disease Onset: Data from the International AIDA Network Behçet's Disease Registry.

2026

Ophthalmology and therapy

Vitale A, Caggiano V, Sbalchiero J, Lopalco G, Ragab G +94 more

Plain English
This study looked at patients with Behçet's disease who started with skin and mouth issues to see how many developed eye problems later. Among 328 patients, 36 (11%) went on to develop eye inflammation. Factors like having a family history of the disease and being of Arab ethnicity significantly increased the chances of eye involvement, while fewer ulcers and being of European descent appeared to lower the risk. Who this helps: This information benefits patients with Behçet's disease and their doctors by identifying who may be at higher risk for serious eye complications.

PubMed

Risk of major organ involvement in Behçet's patients with mucocutaneous onset: data from the AIDA Network Registry.

2026

Rheumatology (Oxford, England)

Vitale A, Gavioli F, Caggiano V, Sbalchiero J, Lopalco G +95 more

Plain English
This study examined 328 people with Behçet's disease who initially showed only skin and mucous membrane symptoms. It found that 25% of these patients later developed serious organ involvement, with specific factors like major oral sores greatly increasing that risk—individuals with both major and minor oral sores faced a 12.76 times higher risk of serious complications. Understanding these risks is crucial for monitoring and managing Behçet's patients to help prevent serious health issues. Who this helps: This aids doctors in identifying which Behçet's patients are at higher risk for complications.

PubMed

The conspiring role of gut microbiota as primer of autoimmune thyroid diseases: A scoping focus.

2025

Autoimmunity reviews

Sessa L, Malavolta E, Sodero G, Cipolla C, Rigante D

Plain English
This study looked at how changes in gut bacteria may contribute to autoimmune thyroid diseases. Researchers found that certain gut bacteria, like Lactobacilli and Bifidobacteria, can influence the immune system and potentially lead to thyroid issues by mimicking proteins found in thyroid tissue. These imbalances can disrupt the gut barrier, causing inflammation and affecting thyroid hormone levels, which is important for overall health. Who this helps: This helps patients with thyroid disorders and healthcare providers managing these conditions.

PubMed

Pubertal induction therapy in pediatric patients with Duchenne muscular dystrophy.

2025

Journal of pediatric endocrinology & metabolism : JPEM

Sodero G, Cipolla C, Rigante D, Arzilli F, Mercuri EM

Plain English
This study looked at the effects of pubertal induction therapy on boys with Duchenne muscular dystrophy (DMD), a muscle-wasting disease that affects young males. Researchers reviewed six studies involving 58 boys aged 12 to 17.7 years and found that all participants successfully developed secondary sexual characteristics without any negative side effects. Additionally, some studies noted improvements in quality of life and bone health. This is important because DMD can disrupt normal puberty, and helping these boys develop normally can have significant benefits for their overall well-being. Who this helps: This research helps boys with Duchenne muscular dystrophy and their families.

PubMed

The Golden Card of Interleukin-1 Blockers in Systemic Inflammasomopathies of Childhood.

2025

International journal of molecular sciences

Rigante D

Plain English
This research focused on how blocking a specific protein called interleukin-1 (IL-1) can help treat various inflammatory diseases in children that cause periodic fevers and other symptoms. The study found that IL-1 blockers effectively restore health in these patients, showing promise in managing conditions like Still's disease and Kawasaki disease with minimal side effects. This is important because it opens up new treatment options for complex inflammatory diseases that previously had limited management strategies. Who this helps: This research helps children suffering from systemic inflammatory diseases and their doctors by providing effective treatment options.

PubMed

The Impact of Acquired Hypothyroidism on the Growth and Metabolic Profiles of Pediatric Patients: A Retrospective Monocentric Study.

2025

Children (Basel, Switzerland)

Malavolta E, Cammisa I, Rotunno G, Pane LC, Arzilli F +3 more

Plain English
This study looked at how acquired hypothyroidism affects the growth and metabolism of children. Researchers found that children with hypothyroidism were shorter on average than healthy peers and had higher blood sugar and triglyceride levels, although these levels were still within normal ranges. This research underscores the need for early diagnosis and treatment of hypothyroidism in children to prevent growth delays and other health issues. Who this helps: This helps pediatric patients and their doctors.

PubMed

Efficacy and Safety of Growth Hormone (GH) Therapy in Patients with SHOX Gene Variants.

2025

Children (Basel, Switzerland)

Sodero G, Arzilli F, Malavolta E, Lezzi M, Comes F +3 more

Plain English
This study looked at how effective and safe growth hormone therapy is for children with changes in the SHOX gene, which can cause short stature. The review analyzed 22 articles and found that growth hormone therapy is both safe and effective for these patients. The only clinical trial available so far supports the use of this treatment, but more research is needed to fully understand its benefits. Who this helps: This information benefits children with SHOX gene mutations and their doctors by guiding treatment options.

PubMed

The Effect of GnRH Analogs on Body Mass Index in Girls with Central Precocious Puberty: A Single-Center Retrospective Study with a Literature Review.

2025

Children (Basel, Switzerland)

Cammisa I, Malavolta E, Arzilli F, Rotunno G, Rigante D +1 more

Plain English
This study looked at how GnRH analogs (a type of medication used to treat early puberty in girls) affect body mass index (BMI) in 34 girls with central precocious puberty (CPP). The researchers found that after one year of treatment, the girls' BMI increased significantly, especially among those who were a normal weight at the start. This is important because while the treatment is necessary for managing CPP, it may also lead to increases in BMI, highlighting the need for ongoing monitoring of weight in these children. Who this helps: This benefits doctors and healthcare providers working with girls diagnosed with central precocious puberty.

PubMed

The entrenchment of NLRP3 inflammasomes in autoimmune disease-related inflammation.

2025

Autoimmunity reviews

Carnazzo V, Rigante D, Restante G, Basile V, Pocino K +1 more

Plain English
This study looked at how a protein complex called NLRP3 inflammasome contributes to inflammation in various autoimmune diseases, where the body's immune system attacks its own tissues. It found that in diseases like systemic lupus erythematosus, rheumatoid arthritis, and Sjögren's syndrome, the NLRP3 inflammasome is overly activated and boosts inflammation, which can cause tissue damage. This is important because targeting the NLRP3 inflammasome with specific inhibitors could help reduce disease severity and improve treatment monitoring for patients. Who this helps: Patients with autoimmune diseases.

PubMed

Neonatal Symptoms in Pediatric Idiopathic Growth Hormone Deficiency: Prevalences and Insights.

2025

Children (Basel, Switzerland)

Sodero G, Rigante D, Cipolla C

Plain English
This study looked at the symptoms that newborns display when they have idiopathic growth hormone deficiency (GHD), which means they have low growth hormone levels without a known cause. Researchers reviewed the records of 190 patients and found that 27.9% had hypoglycemia (low blood sugar), often treated with glucose, while 19.5% experienced prolonged jaundice that required phototherapy. Understanding these symptoms is important for better diagnosis and care for children with GHD. Who this helps: This helps pediatricians and families with children suspected of having growth hormone deficiency.

PubMed

A Theoretical Link Between the GH/IGF-1 Axis and Cytokine Family in Children: Current Knowledge and Future Perspectives.

2025

Children (Basel, Switzerland)

Cammisa I, Rigante D, Cipolla C

Plain English
This study looked at how chronic inflammation affects children's growth, focusing on the roles of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Researchers found that certain inflammatory substances, like interleukin-1 and interleukin-6, can interfere with the body’s ability to use GH and IGF-1 properly, which can lead to growth problems. Controlling inflammation in children with chronic conditions is crucial to help them grow normally and reach their full potential. Who this helps: This helps children with chronic inflammatory diseases and their doctors.

PubMed

New Challenging Systemic Therapies for Juvenile Scleroderma: A Comprehensive Review.

2025

Pharmaceuticals (Basel, Switzerland)

Sassetti C, Borrelli C, Mazuy M, Guerriero C, Rigante D +1 more

Plain English
This paper reviews new treatments for juvenile scleroderma, a rare autoimmune disease affecting children that can cause serious skin and internal organ problems. Researchers found that certain biologic drugs like tocilizumab and rituximab, as well as small molecule medications, may help manage severe cases by reducing skin and lung issues. However, there is a lack of strong evidence from studies specifically involving children, highlighting the need for larger trials to confirm these treatments’ effectiveness and safety for young patients. Who this helps: This information helps doctors and researchers seeking better treatments for children with juvenile scleroderma.

PubMed

Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study.

2025

Journal of pediatric endocrinology & metabolism : JPEM

Sodero G, Lezzi M, Moscogiuri LA, Malavolta E, Arzilli F +5 more

Plain English
This study examined early puberty in children, focusing on 134 girls diagnosed with central precocious puberty (CPP) at Italian hospitals. Researchers found that 12 of these girls (or 9%) had an underlying medical issue (organic CPP), and this group tended to be diagnosed earlier and showed faster growth and higher hormone levels compared to those with no identified cause (idiopathic CPP). Identifying specific hormone levels, like an LH peak over 9.1 mIU/mL, can help doctors recognize which cases might need more investigation, making early diagnosis and treatment easier. Who this helps: This helps doctors and pediatric patients facing early puberty issues.

PubMed

Efficacy of Dupilumab in a Young Woman with Refractory Cutaneous Lichen Planus: A Case-Based Review.

2025

Diseases (Basel, Switzerland)

Guerriero C, Boeti L, Mastellone F, Coscarella G, Falco GM +4 more

Plain English
This study looked at how well a medication called dupilumab worked for a 26-year-old woman with a long-term skin condition called cutaneous lichen planus (CLP). After two years of treatment with dupilumab, her skin condition improved significantly, and she is now completely symptom-free. This finding is important because it shows that dupilumab can be an effective option for people suffering from this difficult-to-treat skin disease. Who this helps: This helps patients with cutaneous lichen planus and doctors treating them.

PubMed

Diagnostic Challenges of Short Stature and Growth Hormone Insufficiency Across Different Genetic Etiologies.

2025

Biomedicines

Arzilli F, De Fortuna G, Cammisa I, Vagnozzi L, Sodero G +2 more

Plain English
This study looked at the genetic reasons behind short stature in children who might not have enough growth hormone. Researchers found that many different genes can affect growth, and they emphasize the importance of genetic testing to help identify these issues. Understanding these genetic causes can improve treatment decisions for growth hormone therapy, leading to better outcomes for affected children. Who this helps: This helps children with growth issues and their doctors by providing clearer pathways for diagnosis and treatment.

PubMed

Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi/Cold-Induced Sweating Syndrome Type 1.

2025

Genes

Calà F, Sforza E, D'Alatri L, Frassineti L, Manfredi C +10 more

Plain English
This study examined the vocal traits of patients with Crisponi/Cold-Induced Sweating Syndrome Type 1, finding that they have a unique voice pattern that includes issues with articulation and a specific quality called hyper-rhinophonia. Thirteen patients, aged between 6 and 44, were analyzed, and their voices were shown to share these common traits. This understanding can help doctors identify this rare condition earlier, potentially improving diagnosis and treatment for patients. Who this helps: Doctors and patients with Crisponi/Cold-Induced Sweating Syndrome.

PubMed

Sex Steroid Priming on Growth Hormone Stimulation Test: A Scoping Review.

2025

Children (Basel, Switzerland)

Cammisa I, Rigante D, Sodero G, Cipolla C

Plain English
This research examined how giving sex hormones to children before growth hormone tests might improve the tests' accuracy for diagnosing growth hormone deficiency (GHD). The review of 17 studies with 1,097 participants found that sex steroid priming increased growth hormone levels in most cases, which helped decrease the number of incorrect GHD diagnoses. This matters because accurate diagnosis is crucial for ensuring children receive the right treatment. Who this helps: This research benefits doctors and children suspected of having growth hormone deficiency.

PubMed

Endocrine Dysfunctions After Pediatric Traumatic Brain Injury: Present Insights and Future Directions.

2025

Children (Basel, Switzerland)

Cammisa I, Malavolta E, Sodero G, Rigante D, Cipolla C

Plain English
This study examined the effects of traumatic brain injuries (TBI) on children, particularly how these injuries can lead to hormone-related issues later on. Researchers found that between 5% and 57% of children with TBIs experience problems with their pituitary glands, which can affect growth, puberty, and overall health. These hormonal changes can appear months or even years after the injury, so it's crucial for doctors to monitor these patients regularly to improve their long-term recovery. Who this helps: This helps children recovering from traumatic brain injuries and their doctors.

PubMed

Neuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.

2025

Children (Basel, Switzerland)

Rigante D, Veredice C

Plain English
This study looked at Sanfilippo syndrome, a rare genetic disorder that leads to severe cognitive decline due to the buildup of certain sugars in the brain. Researchers found that this buildup triggers inflammation in the brain, particularly involving a protein called interleukin-1, which may harm brain cells. Understanding this connection is important because it opens up new approaches to treat the neurological effects of Sanfilippo syndrome. Who this helps: Patients with Sanfilippo syndrome and their families.

PubMed

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

2025

Frontiers in immunology

Di Majo BE, Leoni C, Cartisano E, Fossati C, Viscogliosi G +31 more

Plain English
This study looked at patients with Cardiofaciocutaneous syndrome (CFCS), a rare genetic disorder that affects many parts of the body, including the immune system. Out of 56 patients studied, 32% were more prone to infections and 25% showed signs of autoimmunity, with various immune system problems noted, such as low levels of certain antibodies in 21% to 40% of the cases. These results highlight the need for regular immune system checks in CFCS patients so that any issues can be identified and treated early. Who this helps: This helps patients with CFCS and their doctors in managing their health better.

PubMed

Psycho-gastroenterological profile of an Italian population of children with disorders of gut-brain interaction: A case-control study.

2025

World journal of clinical pediatrics

Giorgio V, Venezia I, Pensabene L, Blasi E, Rigante D +8 more

Plain English
This study looked at the mental and emotional well-being of Italian children aged 11-18 with gut-brain disorders compared to healthy children. Researchers found that the children with these disorders made more doctor visits (35% had over five visits), experienced more difficult life events (28% compared to 1% in healthy kids), and reported worse quality of life. This matters because it highlights the need for better support and tools to help kids with gut-brain disorders manage their conditions effectively. Who this helps: This helps patients, their families, and healthcare providers.

PubMed

The Role ofin the Etiopathogenesis of Sarcoidosis: Current Insights and Future Study Directions.

2025

International journal of molecular sciences

Di Francesco AM, Pasciuto G, Verrecchia E, Sicignano LL, Gerardino L +2 more

Plain English
This study looked at how a specific skin bacterium is linked to sarcoidosis, a disease where small clusters of inflammatory cells form in various organs. Researchers found that this bacterium may trigger stronger immune responses in sarcoidosis patients compared to healthy individuals. Understanding this connection is important because it could lead to new treatments for managing sarcoidosis and related inflammatory conditions. Who this helps: This helps patients with sarcoidosis and doctors treating them.

PubMed

Exploring the significance of vitamin D insufficiency in the periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: a single-center retrospective assessment during the decade 2014-2024.

2025

Internal and emergency medicine

Rigante D, Manna R, Candelli M

Plain English
This study looked at 151 children with PFAPA syndrome, which causes repeated fevers and mouth sores, to see if their vitamin D levels were linked to how the condition progressed. Researchers found that 30% of the children had low vitamin D levels, and these insufficient levels were connected to longer-lasting symptoms and a younger age of onset for the disease. Understanding the role of vitamin D could help manage PFAPA syndrome more effectively. Who this helps: This helps patients with PFAPA syndrome and their families.

PubMed

Association Between Serum 25(OH)-Vitamin D and Heart Involvement in a Single-Centre Cohort of Children with Acute Rheumatic Fever During the Years 2004-2024.

2025

Biomedicines

Rigante D, De Rosa G, Delogu AB, Pignataro G, Di Pangrazio C +1 more

Plain English
This study looked at the relationship between vitamin D levels and heart problems in children diagnosed with acute rheumatic fever (ARF) from 2004 to 2024. Out of 78 children, 66 (about 85%) showed signs of rheumatic heart disease (RHD), and those with heart issues had much lower vitamin D levels (averaging 18 ng/mL) compared to those without heart issues (averaging 38 ng/mL). This matters because it highlights that low vitamin D may play a role in developing heart problems in these children, suggesting that improving vitamin D levels could be important for their health. Who this helps: This helps children with acute rheumatic fever and their doctors.

PubMed

The Interleukin Network in Sepsis: From Cytokine Storm to Clinical Applications.

2025

Diagnostics (Basel, Switzerland)

Candelli M, Sacco Fernandez M, Rozzi G, Sodero G, Piccioni A +3 more

Plain English
This study looked at how certain proteins called interleukins (ILs) are involved in sepsis, a serious condition caused by infections that can lead to organ failure. Researchers found that two specific interleukins, IL-1 and IL-6, contribute to inflammation that increases blood vessel permeability and can cause shock, while IL-10 helps limit tissue damage but can weaken the immune response. Understanding these roles is important because it can help doctors use ILs as markers to predict disease outcomes and as targets for treatments, potentially improving health for patients suffering from sepsis. Who this helps: This helps patients with sepsis by offering better diagnostic and treatment options.

PubMed

Long-term efficacy and safety of colchicine and anti-IL-1 blockers in FMF: results from the Eurofever multicenter observational study.

2025

Journal of autoimmunity

Bustaffa M, Bella S, Bayindir Y, Amaryan G, Gallizzi R +32 more

Plain English
This study investigated how effective and safe colchicine and anti-IL-1 medications are for treating familial Mediterranean fever (FMF) over the long term. Out of 876 patients, about 85% were confirmed to have FMF, and half of them still experienced disease symptoms after several years. Many patients were not taking enough colchicine, and while most reported good treatment adherence, a small portion experienced mild side effects. Who this helps: This research benefits FMF patients and their doctors by providing insights into treatment effectiveness and patient care.

PubMed

Evaluation of Myocarditis in Patients With Still Disease: Clinical Findings From the Multicenter International AIDA Network Still Disease Registry.

2025

The Journal of rheumatology

Ruscitti P, Di Cola I, Vitale A, Caggiano V, Palumbo P +66 more

Plain English
This study looked at heart problems, especially myocarditis, in patients with Still disease. Researchers examined 73 patients and found that 90% had pericarditis (inflammation of the outer heart layer), while 26% had myocarditis (inflammation of the heart muscle). Patients with myocarditis had a higher chance of severe symptoms and death. Identifying skin rashes and high systemic scores can help doctors predict which patients are at greater risk for myocarditis. Who this helps: This benefits patients with Still disease and their doctors by improving monitoring and management strategies.

PubMed

Influence of gender on Behçet's disease phenotype and irreversible organ damage: Data from the International AIDA Network Behçet's Disease Registry.

2025

Joint bone spine

Sota J, Ragab G, AlMaglouth I, Lopalco G, Tufan A +98 more

Plain English
This study looked at how Behçet's disease affects men and women differently by analyzing data from over 1,000 patients. Researchers found that men had a higher overall damage from the disease, with an average score of 1.92 compared to 1.25 for women, and they experienced more severe symptoms like eye and vascular problems. In contrast, women were more likely to suffer from joint pain, headaches, and issues with their nervous and digestive systems. Who this helps: This research helps doctors understand how to tailor treatment based on gender differences in Behçet's disease.

PubMed

The clinical assessment of lung involvement in patients with Still's disease, results from the multicentre international AIDA Network Still's Disease Registry.

2025

Rheumatology (Oxford, England)

Ruscitti P, Vitale A, Di Cola I, Caggiano V, Palumbo P +81 more

Plain English
This study looked at how Still's disease affects the lungs in 90 patients, primarily adults, with an average age of about 36 years. It was found that 72% of patients experienced pleuritis (inflammation of the tissue around the lungs), while 34% had features related to lung tissue damage, and 9.5% developed acute respiratory distress syndrome (ARDS). Understanding lung involvement in Still's disease is crucial for determining treatment and managing potential complications effectively. Who this helps: This helps patients with Still's disease and their doctors by improving recognition and management of lung-related issues.

PubMed

Predictors of proteinuria, amyloidosis and kidney failure in familial Mediterranean fever: data from the International AIDA Network Registry.

2025

Rheumatology (Oxford, England)

Vitale A, Caggiano V, Sbalchiero J, Tufan A, Batu ED +65 more

Plain English
This study looked at risk factors for kidney problems in people with Familial Mediterranean Fever (FMF), a genetic disease. It analyzed data from 598 FMF patients and found that 80 had proteinuria (excess protein in urine), 61 had amyloidosis (a condition where proteins build up in organs), and 25 experienced kidney failure. Key risks for these conditions included a higher number of attacks per year, older age at diagnosis, and certain genetic mutations. Understanding these risks helps in better managing the health of FMF patients to prevent serious complications. Who this helps: Patients with Familial Mediterranean Fever and their doctors.

PubMed

Tumor Necrosis Factor-Alpha: Ally and Enemy in Protean Cutaneous Sceneries.

2024

International journal of molecular sciences

Pocino K, Carnazzo V, Stefanile A, Basile V, Guerriero C +3 more

Plain English
This study looked at a substance called tumor necrosis factor-alpha (TNF-α) and its dual role in skin health and disease. It found that while TNF-α can help protect the skin and support healing, too much of it can lead to problems like psoriasis and acne. Understanding this balance is important for developing better treatments for skin conditions. Who this helps: This research benefits patients with skin diseases and doctors treating them.

PubMed

Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey.

2024

Pediatric rheumatology online journal

La Bella S, Attanasi M, Porreca A, Di Ludovico A, Maggio MC +12 more

Plain English
This study looked at how accurate a generative AI tool, specifically Microsoft's Copilot with Chat-GPT 4.0, is when answering questions about pediatric familial Mediterranean fever (FMF). Experts rated the AI's responses on a scale from 1 to 5 across three assessments, with median scores ranging from 2.00 to 5.00 at first assessment and dropping to around 3.00 to 4.00 by the third. The findings show that the AI's answers often had inaccuracies, which means human oversight is still important when using AI in pediatric medicine. Who this helps: This research helps doctors and healthcare providers who use AI tools in diagnosing and managing pediatric diseases.

PubMed

Predictive value of transabdominal pelvic ultrasonography for the diagnosis of central precocious puberty: A single-center observational retrospective study.

2024

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

Sessa L, Rotunno G, Sodero G, Pane LC, Rendeli C +3 more

Plain English
This study looked at how effective pelvic ultrasound is in diagnosing central precocious puberty (CPP) in young girls suspected of having this condition. Out of 47 girls, 34 were diagnosed with CPP, while 39 of them had ultrasound results showing signs of puberty. The ultrasound method showed a high accuracy rate, correctly identifying 91% of CPP cases, which is important for early diagnosis and treatment of this condition. Who this helps: This benefits pediatric patients and their doctors by improving diagnosis of early puberty.

PubMed

Complete Androgen Insensitivity Syndrome in a Young Girl with Primary Amenorrhea and Suspected Delayed Puberty: A Case-Based Review of Clinical Management, Surgical Follow-Up, and Oncological Risk.

2024

Diseases (Basel, Switzerland)

Fraccascia B, Sodero G, Pane LC, Malavolta E, Gola C +5 more

Plain English
This study looked at a rare condition called Complete Androgen Insensitivity Syndrome (CAIS) in a 14-year-old girl who had not started her period and was suspected of having delayed puberty. The researchers confirmed she had CAIS due to a specific genetic change and reviewed how to manage the condition, including the risk of cancer, hormone therapy, and the decision on when to surgically remove her testes. Their findings highlight the importance of tailored healthcare and teamwork among different medical specialists to support young people with CAIS effectively. Who this helps: This helps patients with CAIS and their families, as well as their doctors.

PubMed

Skin Sceneries of Thyroid Disorders and Impact of Thyroid on Different Skin Diseases: A Scoping Review Focused on Pediatric Patients.

2024

Children (Basel, Switzerland)

Cammisa I, Zona M, Guerriero C, Cipolla C, Rigante D

Plain English
This study looked at how thyroid problems in children can affect their skin health. It found that common skin issues, like hives, vitiligo, and hair loss, are often linked to thyroid dysfunction. Recognizing these skin signs early can help quickly diagnose and treat underlying thyroid problems, which can prevent complications. Who this helps: This helps pediatric patients and their doctors by highlighting the need to monitor skin symptoms for potential thyroid issues.

PubMed

Growth Outcomes and Final Height in Children with Acquired Hypothyroidism: A Systematic Review.

2024

Children (Basel, Switzerland)

Cammisa I, Rigante D, Cipolla C

Plain English
This research reviewed how acquired hypothyroidism affects children's growth and final height. It found that many children diagnosed with this condition are shorter than their peers, often below the third percentile for height. Treatment with thyroxine can help improve growth, but those diagnosed during puberty may not catch up completely, and many don't reach their expected height, even with treatment. Who this helps: This helps patients and their families by highlighting the importance of early diagnosis and treatment for growth issues related to hypothyroidism.

PubMed

Clarifying main nutritional aspects and resting energy expenditure in children with Smith-Magenis syndrome.

2024

European journal of pediatrics

Proli F, Sforza E, Faragalli A, Giorgio V, Leoni C +10 more

Plain English
This study looked at how much energy children with Smith-Magenis syndrome (SMS) burn while resting and their eating habits. Researchers found that resting energy expenditure was normal in these children, but over 90% of those over age 10 were overweight or obese, especially those with certain genetic changes. The study highlights that dietary factors are important in managing weight for these children, suggesting that specific nutrition guidelines are needed. Who this helps: This helps children with Smith-Magenis syndrome and their families.

PubMed

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

2024

Genes

Onesimo R, Sforza E, Palermo F, Giorgio V, Leoni C +9 more

Plain English
This study looked at the feeding challenges faced by patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1) from birth to adulthood. It found that all 14 patients studied initially required tube feeding at birth, and 43% had to wait until after 18 months to start eating solid food. Additionally, many experienced long mealtime durations, fatigue while chewing, and drooling issues, which can lead to further complications. Who this helps: This benefits patients with CS/CISS1 and their caregivers by providing better insights for managing their feeding difficulties.

PubMed

A Potential Link Between Outcome of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) Syndrome in Children and Breastfeeding: A Retrospective Single-Center Cohort Snapshot.

2024

Children (Basel, Switzerland)

Rigante D, Candelli M

Plain English
This study looked at 150 children in Italy with a condition called PFAPA syndrome, which causes recurring fevers and other symptoms. Researchers found that children who were breastfed for over six months and whose mothers had higher education levels were more likely to see their symptoms go away. Specifically, this group experienced fewer fever attacks over a follow-up period of five years. Who this helps: This research benefits parents and healthcare providers by highlighting the importance of breastfeeding in managing PFAPA syndrome in children.

PubMed

A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.

2024

Orphanet journal of rare diseases

Trevisan V, De Corso E, Viscogliosi G, Onesimo R, Cina A +16 more

Plain English
This study looked at five children with different lymphatic malformations in their heads and necks, which can lead to severe disfigurement and complicated treatment. The researchers found that working together as a team of specialists helped improve the children’s overall care and quality of life, even if complete healing was rare. The study emphasizes the importance of sending patients to expert centers, which can reduce stress for families and provide better treatment options. Who this helps: This helps patients with lymphatic malformations and their families by improving care and support.

PubMed

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