Department of Plastic, Reconstructive and Cosmetic Surgery, Fondazione Policlinico Universitario Campus Bio-Medico di Roma, Rome, Italy; Research Unit of Plastic surgery and Dermatology, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.
Giovanni Francesco Marangi studies the process of testing for a protein called PD-L1 in patients with metastatic triple-negative breast cancer, a challenging and aggressive form of breast cancer. His research highlights how variations in testing methods can lead to inconsistent results, which may affect treatment decisions for patients. A key part of his work involves analyzing the best practices for these tests, ensuring that patients receive the most accurate evaluations possible. By improving these testing methods, Marangi aims to better inform doctors about which patients are eligible for the immunotherapy drug pembrolizumab, which requires specific PD-L1 score thresholds.
Key findings
Testing method inconsistencies can lead to varying PD-L1 scores in patients, complicating treatment plans.
The choice of testing kit significantly impacts PD-L1 score results, affecting patient eligibility for pembrolizumab.
Precise PD-L1 testing is critical for appropriate therapy decisions in advanced triple-negative breast cancer.
Frequently asked questions
Does Dr. Marangi study triple-negative breast cancer?
Yes, Dr. Marangi focuses on metastatic triple-negative breast cancer and the challenges associated with testing for PD-L1.
What treatments has Dr. Marangi researched?
He has researched the immunotherapy drug pembrolizumab, which is used for patients with specific PD-L1 scores.
Is Dr. Marangi's work relevant to patients with advanced breast cancer?
Yes, his research helps ensure that patients with metastatic triple-negative breast cancer receive accurate testing, which is crucial for treatment decisions.
Publications in plain English
Postoperative measures changes in patients with gigantomastia who underwent inverted-T reduction mammoplasty with or without dermo-adipo-glandular inferior-pedicled Ribeiro flap.
2026
Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Marangi GF, Romano FD, Gratteri M, Pagnoni M, Porso D +5 more
Plain English This study looked at how different surgical techniques affect breast shape after reducing breast size in patients with gigantomastia, a condition of very large breasts. It compared two groups: one that had the Ribeiro flap technique used during surgery (33 patients) and one that did not (52 patients). The results showed that while both techniques led to similar breast volumes over time, the ribero flap group had a greater breast projection right after surgery, although both groups experienced some breast descent after 12 months.
Who this helps: This research benefits patients with gigantomastia seeking breast reduction surgery.
Nine factors influencing breast ptosis following reduction mammoplasty.
2026
Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Gratteri M, Marangi GF, Romano FD, Grosu FG, Porso D +5 more
Plain English This study looked at what factors affect breast droop (ptosis) after women undergo breast reduction surgery. Researchers found that age, how much the breasts weighed after surgery, the presence of stretch marks, the breast's glandular composition before surgery, and weight changes all significantly influenced breast droop in the first year. Additionally, using a specific surgical technique called the Ribeiro flap appeared to help prevent breast droop.
Who this helps: This helps women considering breast reduction surgery understand what factors may affect their results.
Correlation Between General Satisfaction with the Breasts and Appearance of the Scars in Patients Undergoing Inverted T-Scar Reduction Mammaplasty: A Prospective PROMs-Based Study.
2025
Aesthetic plastic surgery
Marangi GF, Gratteri M, Mirra C, Grosu FG, Rossi C +5 more
Plain English This study looked at how satisfied patients are with their breasts after undergoing a specific type of breast reduction surgery, called inverted T-scar reduction mammaplasty, and how this satisfaction relates to the appearance of their surgical scars. It involved 121 patients who completed satisfaction questionnaires at different times after the surgery. The findings showed that while satisfaction with breast appearance generally increased over time, the appearance of scars did not significantly affect this satisfaction; the correlation between scar appearance and breast satisfaction was very weak (just 0.09 to 0.21).
Who this helps: This research benefits patients considering breast reduction surgery by providing insights into what affects their satisfaction post-surgery.
Interdomal ligament of the nose: Clarifying the anatomy through a cadaveric study.
2025
Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Marangi GF, Savani L, Gratteri M, Mirra C, Romano FD +5 more
Plain English This study looked at a specific ligament in the nose, known as the interdomal ligament, to better understand its shape and size. Researchers examined 25 noses from cadavers and found that the average area of the ligament was about 0.39 square centimeters, with a mean depth of 0.16 centimeters. The findings are important because they help clarify the anatomy of this ligament, which can improve surgical techniques and outcomes in nose surgeries.
Who this helps: This helps surgeons and doctors who perform nasal surgeries.
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants inandAre the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.
2025
Genes
L'Erario FF, Gazzellone A, Contaldo I, Veredice C, Carapelle M +16 more
Plain English This study looked at 78 patients with large heads (macrocephaly) and behavioral issues like autism spectrum disorder (ASD) to identify genetic causes of their conditions. Researchers found that 28% of these patients had specific genetic mutations linked to known diseases, with the most common mutations found in two genes. This research is important because it helps pinpoint genetic reasons behind these developmental challenges, potentially leading to better-targeted treatments and interventions.
Who this helps: Patients with macrocephaly and behavioral abnormalities, as well as their families.
Perception of Changes in Functional Symptoms and Psychological Aspects Related to Rectus Muscle Diastasis in Women Who Have Undergone Reparative Abdominoplasty.
2025
Aesthetic surgery journal
Marangi GF, Gratteri M, Romano FD, Toto V, Faiola A +5 more
Plain English This study looked at how urinary symptoms and low back pain change in women after they undergo surgery to fix a condition called rectus muscle diastasis during an abdominoplasty (tummy tuck). Out of 78 women, those who had the surgery reported a significant drop in urinary issues and back pain three and twelve months post-surgery, alongside improved body image and overall quality of life. This matters because it shows that such surgical interventions can greatly enhance women's health and well-being, helping them feel better physically and emotionally.
Who this helps: Women with rectus muscle diastasis considering surgery.
Burden of pathogenetic and likely pathogenetic variants in SPG7, SPG11 and AP4 genes in Amyotrophic Lateral Sclerosis. A case-control study.
2025
Journal of neurology
Doronzio PN, Lattante S, Bernardo D, Patanella AK, Bisogni G +9 more
Plain English This study examined the presence of certain gene variants linked to Hereditary Spastic Paraplegia (HSP) in patients with Amyotrophic Lateral Sclerosis (ALS). Researchers found that variants in three specific genes—SPG7, SPG11, and those in the AP4 gene group—were more common in ALS patients (1.87%) compared to healthy individuals (0.7%). This information is important because it suggests that these gene variants could play a role in increasing the risk of developing ALS.
Who this helps: This helps patients and doctors by providing insights into genetic factors that may influence ALS risk.
Negative pressure wound therapy for management of Achilles region defects: a systematic review of the literature.
2025
Wounds : a compendium of clinical research and practice
Gratteri M, Luciano C, Romano FD, Abate L, Mirra C +6 more
Plain English This study looked at how negative pressure wound therapy (NPWT) can help heal injuries in the Achilles area, often used by surgeons for reconstruction. Researchers reviewed 14 studies and found that using NPWT either directly on the injury or on top of skin grafts led to better healing outcomes. They noted that combining NPWT with other materials could enhance results, especially if there were previous issues with skin grafts.
Who this helps: This benefits patients with Achilles injuries and their surgeons.
Muscular Versus Myo-cutaneous Latissimus Dorsi Flap in Delayed Breast Reconstruction: A Comparative Study of Postoperative Outcomes.
2025
Aesthetic plastic surgery
Cogliandro A, De Bernardis R, Calabrese G, Salzillo R, Petrucci V +5 more
Plain English This study compared two types of surgical techniques (muscular and myo-cutaneous) used for breast reconstruction after a mastectomy. Researchers found that patients who received the muscular flap reported better outcomes related to the appearance, symptoms, and psychological impact of their scars, with significant score differences: for example, the muscular flap group had a p-value of 0.001 for appearance satisfaction. These findings are important because they can help surgeons make better decisions about which reconstruction method to use, enhancing patient satisfaction.
Who this helps: This helps patients undergoing breast reconstruction after mastectomy.
Impact of Abdominoplasty with Diastasis Recti Correction on Female Sexual Function: A 1-Year Prospective Follow-Up Study.
2025
Aesthetic plastic surgery
Toto V, Faiola A, Pazzaglia M, Ponzo M, de Donato F +5 more
Plain English This study looked at how a specific surgery called abdominoplasty, which helps women with a condition called diastasis recti (a separation of abdominal muscles after pregnancy), affects sexual function one year after the procedure. Researchers found that, on average, women's sexual function scores improved by 7.1 points, especially in areas like arousal, orgasm, and satisfaction. This matters because it shows that the surgery not only improves physical appearance and core stability but also enhances sexual health and overall quality of life for women affected by this condition.
Who this helps: This helps women with postpartum diastasis recti seeking improvement in their sexual function and overall well-being.
The same genomic variants in the first three exons ofcan be either benign or causative of Koolen-de Vries syndrome: Definition of a validation procedure.
2025
Genes & diseases
L'Erario FF, Marangi G, Renzi AG, Carapelle M, Doronzio PN +5 more
Reliability of Rapid On-Site Evaluation Achieved by Remote Sharing Systems (E-ROSE) and AI Algorithms (AI-ROSE) Compared With the Gold Standard in the Diagnosis of Lung Cancer.
2025
Respirology (Carlton, Vic.)
Tondo P, Palmiotti GA, D'Alagni G, Campanino T, Scioscia G +14 more
Plain English This study looked at new ways to quickly and accurately diagnose lung cancer using technology, specifically by comparing two methods—remote evaluation by pathologists (E-ROSE) and artificial intelligence (AI-ROSE)—to the traditional method used by experts. E-ROSE showed an impressive accuracy of 95.5%, with 99% sensitivity (ability to correctly identify those with the disease) and 88.7% specificity (ability to correctly identify those without the disease). In contrast, AI-ROSE had a lower overall accuracy of 92.5% but was still effective, particularly in identifying true positives. These findings are important because they indicate that these innovative methods can enhance the diagnosis of lung cancer, leading to faster and more reliable results for patients.
Who this helps: Patients suspected of having lung cancer and their doctors.
Trends in Thyroid Fine-Needle Aspiration Cytology - Results from the Italian Cytopathology Committee National Practice Survey.
2025
Pathologica
Acanfora G, Nacchio M, Baronchelli C, Boscaino A, Buriani C +39 more
Plain English This study looked at how thyroid fine-needle aspiration (FNA) is performed in Italy by sending a survey to members of the Italian pathology society. Out of 846 members, only 104 (about 12%) responded, revealing that 75% of the procedures are done by non-pathologists and 90% of the participants use a specific classification system for results. However, only 42% of those surveyed perform molecular tests on samples, often only when requested by the physician.
Who this helps: This benefits doctors and patients needing accurate thyroid assessments.
Cathelicidin LL-37 Expression in Human Breast Implant Capsules.
2024
Plastic and reconstructive surgery
Segreto F, Carotti S, Marangi GF, Francesconi M, Calia E +5 more
Plain English This study looked at a protein called cathelicidin LL-37 in breast implant capsules to understand its role in capsular contracture, a common complication after surgery. Researchers examined tissue samples from 28 women and found that LL-37 was present in certain immune cells in one-third of the samples. Notably, higher levels of LL-37 in immune cells were associated with less severe capsular contracture, suggesting that this protein might help prevent this complication after implants.
Who this helps: This research benefits patients undergoing breast implant procedures and could guide doctors in reducing complications.
Impact of Incisional Access Site in Primary Breast Augmentation: Evaluation of Patient Satisfaction with SCAR-Q.
2024
Aesthetic plastic surgery
Gratteri M, Marangi GF, Mirra C, Arcari L, Romano FD +5 more
Plain English This study looked at how the location of the incision affects patient satisfaction after breast augmentation surgery. It involved 54 patients who had either an inframammary fold incision or an inferior hemi-periareolar incision, and results showed that patients generally felt better about their scars after 6 months. Notably, those with the inframammary fold incision reported less emotional impact related to their scars compared to those with the other incision type.
Who this helps: This helps patients considering breast augmentation by providing insights into how incision types affect satisfaction and emotional well-being.
Switching from Galenic to Advanced Dressings or Vacuum Assisted Closure Therapy Can Improve Quality of Life of Patients with Chronic Non-Responsive Pressure Skin Ulcers: Preliminary Data with Italian Translation of WOUND-Q.
2024
Advances in wound care
Marangi GF, Mirra C, Gratteri M, Cogliandro A, Salzillo R +5 more
Plain English This study looked at how different types of wound treatments affect the quality of life of patients with long-lasting pressure ulcers that didn't heal well with standard dressings. The researchers followed 106 patients and discovered that those using advanced dressings or vacuum-assisted closure therapy experienced significant improvements in various quality of life areas—like comfort and social interactions—compared to those who continued with older dressing methods. Specifically, both treatment groups showed better results in areas like drainage and life impact compared to the control group using traditional dressings.
Who this helps: This information is beneficial for patients with chronic pressure ulcers, as well as their healthcare providers.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
2024
Clinical genetics
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P +7 more
Plain English This study looked at a group of patients with a rare genetic condition and found that some had variations in the SOX11 gene that made their symptoms resemble those of Pitt-Hopkins syndrome, a condition usually caused by a different gene. In the review of 32 patients with SOX11 variants, 7 (or 22%) showed signs similar to Pitt-Hopkins syndrome, which includes severe intellectual disability and often smaller head size but fewer physical abnormalities. This finding is important because it helps doctors recognize that different genetic factors can lead to similar symptoms, improving patient diagnosis and care.
Who this helps: This helps patients and doctors who diagnose and treat neurodevelopmental disorders.
Main Factors Influencing Patient Satisfaction After Primary Breast Augmentation: A Prospective Study Based on Patient-Reported Outcome Measures.
2024
Aesthetic surgery journal
Marangi GF, Savani L, Gratteri M, Arcari L, Segreto F +5 more
Plain English This study looked at what factors influence how satisfied patients are after breast augmentation surgery. Researchers found that 131 patients reported their satisfaction one year after surgery, and they discovered that underweight patients were less satisfied than those with normal or higher weights, those with more breast tissue before surgery were happier, and patients who got larger implants and bra size increases were also more satisfied. Understanding these factors is important for doctors to ensure better outcomes and satisfaction for their patients.
Who this helps: This helps patients considering breast augmentation and the doctors who perform the surgery.
Relevance of Self-Consciousness of Appearance on Patient Satisfaction in Primary Rhinoplasty: a 12-Month Follow-up Prospective Study.
2024
Aesthetic plastic surgery
Marangi GF, Faiola A, Cimmino AA, Savani L, Mirra C +5 more
Plain English This study looked at how self-consciousness about appearance affects patient satisfaction after nose surgery (rhinoplasty). Researchers followed 50 patients for 12 months and found that those who felt more satisfied with their appearance had lower levels of distress related to their looks, with a significant difference in distress scores between satisfied and unsatisfied groups. Importantly, the study highlights that patients with unrealistic expectations can end up unhappy, even with good surgical results, so it's essential for surgeons to have thorough discussions with their patients about what to expect.
Who this helps: This helps patients undergoing rhinoplasty and the surgeons who perform the surgery.
Correction of Rectus Abdominis Diastasis: A Prospective Comparative Study Between a New Suturable Polypropylene Mesh vs Polypropylene Standard Suture Plication.
2024
Aesthetic surgery journal
Marangi GF, Gratteri M, Savani L, Porso D, Cimmino A +5 more
Plain English This study looked at a new type of surgical mesh called Duramesh compared to traditional suture methods for repairing abdominal muscle separation, known as rectus abdominis diastasis. Out of 70 patients, 65 completed the study, showing that the new mesh did not lead to more complications or longer hospital stays than the standard method, and it reduced the surgery time. It's important because it means that this new mesh can safely and effectively assist in recovering from muscle separation without affecting patient satisfaction or aesthetic outcomes.
Who this helps: This helps patients undergoing surgery for abdominal muscle separation.
Risks and Complications Rate in Liposuction: A Systematic Review and Meta-Analysis.
2024
Aesthetic surgery journal
Comerci AJ, Arellano JA, Alessandri-Bonetti M, Mocharnuk JW, Marangi GF +3 more
Plain English This study looked at the risks and complications of liposuction, which is a popular surgery for removing excess fat. Out of nearly 30,000 patients assessed, the overall complication rate was 2.62%, with contour deformity being the most common issue at 2.35%. Understanding these risks helps both patients and doctors make better decisions about the procedure.
Who this helps: Patients considering liposuction and their doctors.
Innovative Application of GalaFLEX Poly-4-Hydroxybutyrate Scaffold in Breast Reduction/Mastopexy with Inferiorly Based Dermo-adipose Flap.
2024
Plastic and reconstructive surgery. Global open
Cagli B, Gratteri M, Cimmino AA, Sofo F, Mirra C +5 more
Plain English This study looked at a new way to improve breast reduction surgery by using a special material called a P4HB scaffold. The researchers found that this scaffold could create a strong connection between the breast tissue and the skin flap, helping to support the tissue and reduce the chance of sagging over time. Using this method could potentially lead to better and longer-lasting results for patients undergoing breast reduction.
Who this helps: This helps patients who are having breast reduction surgery.
Is the Severity of Preoperative Eyelid Dermatochalasis Directly Correlated with Patient Satisfaction After Upper Blepharoplasty? A Prospective Study Based on PROMs.
2024
Aesthetic plastic surgery
Marangi GF, Mirra C, Savani L, Cogliandro A, Romano FD +5 more
Plain English This study looked at how happy patients are after having surgery to remove excess skin on their eyelids, known as upper blepharoplasty. It involved 79 patients and found that all of them felt significantly better about their eyelids after the surgery, even though the amount of skin they had beforehand didn’t affect their satisfaction with the results. This is important because it shows that even minor eyelid issues can be enough reason to consider surgery, as many patients report a boost in both their appearance and their quality of life after the procedure.
Who this helps: Patients seeking cosmetic eyelid surgery.
LYMPH-Q translation, cultural adaptation and validation in Italian language: A prospective PROMs-based study on breast cancer-related arm lymphedema for patients' education.
2024
Journal of plastic, reconstructive & aesthetic surgery : JPRAS
Cogliandro A, Mirra C, Gratteri M, Mannella V, Salzillo R +6 more
Plain English This study focused on translating and adapting a questionnaire called LYMPH-Q for Italian-speaking patients with breast cancer-related arm swelling (lymphedema). The researchers found that out of 44 women who participated, those who regularly used a compression sleeve reported significant improvements in their symptoms, function, appearance, and mental well-being. This matters because it shows that using the compression sleeve can enhance the quality of life for these patients.
Who this helps: This helps breast cancer patients dealing with lymphedema.
Total capsulectomy and NPWT for management of a Mycobacterium abscessus breast implant infection unresponsive to antimicrobial therapy: a case report and literature review.
2024
Wounds : a compendium of clinical research and practice
Cimmino AA, Marangi GF, D'Onofrio G, Gratteri M, Porso D +3 more
Plain English This study looked at how to treat a difficult breast implant infection caused by a bacteria called Mycobacterium abscessus that didn't respond to traditional antibiotics. The researchers successfully used a special treatment called negative pressure wound therapy (NPWT) after removing the infected implant from a 60-year-old woman, which helped her recover faster and prepared her for getting new implants more quickly. This approach led to a better healing outcome and a satisfying cosmetic result, emphasizing the potential benefits of NPWT for similar infections.
Who this helps: This helps patients with breast implant infections and their doctors.
Exploring the Role ofVariants in Italian ALS Patients.
2024
Genes
Bisogni G, Conte A, Costantino U, Lattante S, Bernardo D +9 more
Plain English This study looked at genetic variations related to amyotrophic lateral sclerosis (ALS) in 971 Italian patients. Researchers found rare changes in a specific gene in 16 patients, which is about 1.6% of those studied. Importantly, nearly half of the patients tested showed some level of cognitive issues, which suggests that these genetic variants might affect both movement and thinking abilities in ALS.
Who this helps: This helps ALS patients and their doctors in understanding the potential cognitive impacts of their condition.
Effect of introduction of elastic compression bandages on quality of life in patients with lower extremity vascular skin ulcers: a prospective study correlating WOUND-Q patient-reported outcome measures and evidence-based medicine.
2024
Wounds : a compendium of clinical research and practice
Gratteri M, Marangi GF, Mirra C, Cogliandro A, Cagli B +5 more
Plain English This study looked at how using elastic compression bandages affects the quality of life for patients with lower leg skin ulcers caused by blood flow issues. Out of 122 patients, those using these bandages saw their ulcer sizes shrink significantly, with group-specific reductions averaging between 4.06 to 5.04 cm² after 12 months. People's quality of life also improved, with better scores for drainage and odor, which is important because it shows that better wound care directly leads to a happier and healthier life for patients.
Who this helps: This helps patients with vascular skin ulcers.
Doronzio PN, Lattante S, Marangi G, Martello F, Conte A +6 more
Plain English This study looked at whether a specific genetic marker, called CA repeats, is linked to Amyotrophic Lateral Sclerosis (ALS) in Italian patients. Researchers analyzed the DNA of 366 ALS patients and 353 healthy individuals but found no connection between the length of CA repeats and the risk of developing the disease. This matters because it challenges previous assumptions about this genetic factor being a potential risk for ALS, leading to a better understanding of what might actually contribute to the disease.
Who this helps: This helps researchers and healthcare providers working on ALS.
Evaluating the contribution of the gene TARDBP in Italian patients with amyotrophic lateral sclerosis.
2023
European journal of neurology
Lattante S, Sabatelli M, Bisogni G, Marangi G, Doronzio PN +14 more
Plain English This study looked at the role of a gene called TARDBP in nearly 2,000 Italian patients with amyotrophic lateral sclerosis (ALS), a serious neurological disease. Researchers found that about 2.2% of these patients had specific variations in the TARDBP gene, with the most common being the p.A382T variant, which was linked to differences in symptoms and cognitive problems. Understanding these genetic links is important because it can help doctors predict how the disease might progress and inform treatment options.
Who this helps: This helps patients with ALS and their doctors by providing insights into the genetic factors influencing the disease.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
2023
European journal of human genetics : EJHG
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F +7 more
Plain English This study looked at genetic changes in a gene called CHAMP1 that cause different types of neurodevelopmental disorders. The researchers found that patients with certain changes in this gene showed a range of symptoms: some exhibited severe intellectual disability and autism, while others had milder issues or seizures. They identified specific genetic alterations—like a complete loss of function in some cases and different mutations in others—which helps to categorize these disorders more clearly.
Who this helps: This research helps patients with CHAMP1-related disorders and their doctors by providing clearer understanding of their conditions.
Histologic and Immunohistochemical Evaluation of Human Breast Capsules Formed around Five Different Expander Surfaces.
2023
Plastic and reconstructive surgery
Cagli B, Carotti S, Segreto F, Francesconi M, Marangi GF +5 more
Plain English This study examined how the surface texture of breast implants affects the formation of scar tissue, specifically looking at five types of implant surfaces: smooth, polyurethane-coated, and three levels of texture (low, high, and macro). Researchers found that smooth implants led to more stiff tissue compared to polyurethane, which had more inflammation and blood vessel growth, suggesting it may be better for preventing complications like capsular contracture (CC). This is important because reducing CC can improve patient outcomes and comfort after breast surgery.
Who this helps: This benefits patients undergoing breast implant procedures.
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in.
2023
Genes
Pasquetti D, Marangi G, Orteschi D, Carapelle M, L'Erario FF +6 more
Plain English This study looked at a rare neurological disorder called Neuronal Ceroid Lipofuscinosis 7 (CLN7), which is a leading cause of childhood dementia. Researchers identified a new genetic change in a 5-year-old girl that caused her progressive mental decline. They confirmed this diagnosis through genetic testing and brain scans that revealed brain shrinkage, finding that this genetic change was indeed harmful.
Who this helps: This research benefits doctors and patients dealing with CLN7 by improving diagnosis and understanding of the condition.
The Correlation Between the Improvement in Patient's Quality of Life and Surgeon's Satisfaction Following Primary Breast Augmentation: A Prospective Study.
2023
Aesthetic surgery journal
Marangi GF, Gratteri M, Mirra C, Cogliandro A, Savani L +5 more
Plain English This study looked at how happy patients are with their breast augmentation surgeries and how that compares to the satisfaction of the surgeons who performed the procedures. Out of 71 patients, 60 felt the same as their surgeons about the results, but 11 had different opinions. Overall, patients rated their satisfaction higher, averaging 4.35 out of 5, while surgeons gave an average score of 3.88, showing patients feel better about their results than the surgeons perceive.
Who this helps: This helps patients considering breast augmentation and their surgeons.
Advancing the PD-L1 CPS test in metastatic TNBC: Insights from pathologists and findings from a nationwide survey.
2023
Critical reviews in oncology/hematology
Fusco N, Ivanova M, Frascarelli C, Criscitiello C, Cerbelli B +52 more
Plain English This study looked at the challenges and best practices for testing a specific marker, called PD-L1, in patients with advanced triple-negative breast cancer (mTNBC). Researchers found that inconsistencies in testing methods can lead to varying results, which complicates treatment decisions. For instance, the choice of testing kit can significantly affect the scores given to patients, ultimately impacting their eligibility for the treatment pembrolizumab, which is specifically for patients with a PD-L1 score of 10 or higher.
Who this helps: This benefits patients with metastatic triple-negative breast cancer and their doctors by ensuring more accurate testing and treatment decisions.
Adult phenotype in Koolen-de Vries/haploinsufficiency syndrome.
2022
Journal of medical genetics
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S +9 more
Plain English This study looked at how Koolen-de Vries syndrome (KdVS) affects adults, examining 9 people aged 19 to 45 and reviewing 18 additional cases from previous research. The findings revealed that 56% had mild intellectual disabilities, 44% had moderate disabilities, and 44% experienced epilepsy, most of whom saw improvement before the age of 9. Notably, 78% had scoliosis, with many experiencing it moderately and maintaining their ability to perform daily tasks.
Who this helps: This research benefits patients and families affected by Koolen-de Vries syndrome by providing insights into adult characteristics and challenges.
Neagu N, Conforti C, Agozzino M, Marangi GF, Morariu SH +6 more
Plain English This research paper looks at different treatments for melasma, a skin condition that causes dark patches on the skin, especially in people with darker skin tones. The study found that while treatments like tranexamic acid showed promise, they can have side effects, and no single treatment works for everyone—recurrence rates after treatment are still high. Combining treatments often leads to better results than using one treatment alone, emphasizing the need for personalized treatment plans.
Who this helps: This research benefits patients with melasma seeking effective treatment options.
Conforti C, Agozzino M, Emendato G, Fai A, Fichera F +7 more
Plain English This research paper looked at how diet affects acne, a common skin issue, especially in young people. It found that diets high in sugar can trigger acne, while those low in sugar lead to fewer breakouts. It also noted that milk and chocolate can worsen acne, but foods rich in omega-3 fatty acids can help reduce inflammation and improve skin condition.
Who this helps: This information benefits patients struggling with acne.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
2022
Human molecular genetics
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS +43 more
Plain English This study looked at a gene called SEMA6B and its connection to intellectual disability (ID) by analyzing changes in this gene in 16 patients. Researchers found 14 variations of the SEMA6B gene, which not only cause intellectual disabilities but also affect brain structure, specifically decreasing the density of important connections between neurons. This finding is significant because it expands our understanding of genetic factors in ID, revealing that SEMA6B plays a crucial role in brain development.
Who this helps: This benefits patients with intellectual disabilities and their families.
Generation of an induced pluripotent stem cell line (UCSCi002-A) from a patient with a variant in TARDBP gene associated with familial amyotrophic lateral sclerosis and frontotemporal dementia.
2022
Stem cell research
Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G +6 more
Plain English This study focused on creating special stem cells from a patient who has a genetic mutation linked to both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Researchers successfully developed a new stem cell line, which can help them study the mechanisms behind these diseases more closely. This is important because understanding how the TARDBP gene mutation affects the brain may lead to better treatments for ALS and FTD.
Who this helps: Patients with ALS and frontotemporal dementia.
An overview on the role of COlaser in general dermatology.
2021
Dermatologic therapy
Conforti C, Vezzoni R, Giuffrida R, Fai A, Fadda S +6 more
Plain English This study looked at how carbon dioxide (CO) lasers are used in dermatology for various skin issues, including infections and skin growths. It found that CO lasers are versatile tools, effectively treating both medical conditions and cosmetic concerns. This is important because it shows that CO lasers can improve both health and appearance for patients with various skin problems.
Who this helps: This benefits dermatology patients needing treatment for skin conditions.
Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
2021
Human molecular genetics
Lattante S, Doronzio PN, Conte A, Marangi G, Martello F +9 more
Plain English This study looked at the NEK1 gene in 531 people with amyotrophic lateral sclerosis (ALS), a serious neurological disease. Researchers found 20 rare versions of the NEK1 gene in 22 patients, which included two new mutations and 18 changes that might affect how the gene works. Importantly, the NEK1 gene was expressed less in skin cells from patients with these genetic changes, indicating that these variants likely contribute to the development of ALS.
Who this helps: This research benefits ALS patients by providing insights into the genetic factors that may cause their illness.
Effectiveness and tolerability of treatment for isolated actinic keratoses: A retrospective comparison between cryotherapy, COlaser and 5-fluorouracil 0.5%/salicylic acid 10.
Plain English The study looked at three treatments for actinic keratoses, which are skin spots that can turn into cancer. Researchers analyzed the results from 72 patients and found that all treatments effectively reduced the size of these spots, but the treatment with 5-fluorouracil and salicylic acid caused the least pain and had the best cosmetic outcomes. While all three treatments worked well, 5-fluorouracil also required a longer time commitment, which is important for patients who might struggle with frequent visits.
Who this helps: This helps patients with actinic keratoses and doctors choosing effective treatments.
Neoadjuvant Therapy for Non-melanoma Skin Cancer: Updated Therapeutic Approaches for Basal, Squamous, and Merkel Cell Carcinoma.
2021
Current treatment options in oncology
Zelin E, Zalaudek I, Agozzino M, Dianzani C, Dri A +7 more
Plain English This study looks at new treatments for advanced non-melanoma skin cancers, such as basal cell carcinoma, squamous cell carcinoma, and Merkel cell carcinoma, focusing on using these treatments before surgery (called neoadjuvant therapy). Research shows that targeted therapies, especially those blocking the sonic hedgehog pathway, are highly effective in treating severe cases of basal cell carcinoma. In addition, immunotherapy shows promise for aggressive squamous cell carcinoma and Merkel cell carcinoma, indicating that these approaches could lead to better patient outcomes.
Who this helps: This helps patients with advanced non-melanoma skin cancers.
Generation of an induced pluripotent stem cell line (UCSCi001-A) from a patient with early-onset amyotrophic lateral sclerosis carrying a FUS variant.
2021
Stem cell research
Martello F, Lattante S, Doronzio PN, Conte A, Bisogni G +5 more
Plain English Researchers created stem cells from a patient with a severe form of amyotrophic lateral sclerosis (ALS) linked to a specific gene change in the FUS gene. By using a special method, they successfully generated these stem cells and confirmed they can develop into different types of cells in the body. This new stem cell line is important for studying the causes of ALS and could lead to better treatments in the future.
Who this helps: This helps researchers and scientists working on ALS.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
2021
JAMA neurology
Johnson JO, Chia R, Miller DE, Li R, Kumaran R +294 more
Plain English This study looked at genetic changes in the SPTLC1 gene in patients with juvenile amyotrophic lateral sclerosis (ALS), a rare form of the disease that starts before age 25. Researchers found that three patients had specific genetic variants linked to their condition, including two with a variant called p.Ala20Ser and one with p.Ser331Tyr. These findings are important because they help identify a genetic cause of juvenile ALS, leading to better understanding and potential screening for at-risk patients.
Who this helps: This helps patients with juvenile ALS and their families.
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
2021
American journal of human genetics
Richard EM, Bakhtiari S, Marsh APL, Kaiyrzhanov R, Wagner M +100 more
Plain English Researchers studied a gene called SPATA5L1 and found that changes in this gene are linked to various health issues, including hearing loss, intellectual disability, cerebral palsy, and epilepsy. Out of 47 individuals examined, 53% experienced developmental delays, and brain imaging showed significant reductions in brain volume in those affected. This discovery is important because it reveals a genetic cause for these conditions, which can help guide better diagnosis and treatment options for affected individuals.
Who this helps: This helps patients and families affected by these conditions, as well as doctors seeking to understand the underlying causes.
Laugier-Hunziker syndrome: a case and dermoscopic features.
2021
Dermatology online journal
Ingordo V, Ferrara G, Marangi G, Magnasco S, Argenziano G
Plain English This study looked at Laugier-Hunziker syndrome (LHS), a rare condition that causes brown spots on the lips, mouth, and skin of the fingers and toes in middle-aged people. They described a case involving a 50-year-old woman and noted that there haven't been any specific findings using a special skin examination technique (dermoscopy) for LHS before. Understanding the specific characteristics of LHS could help doctors diagnose this condition more accurately in the future.
Who this helps: This helps doctors and healthcare providers who care for patients with Laugier-Hunziker syndrome.
Cutaneous Manifestations in Confirmed COVID-19 Patients: A Systematic Review.
2020
Biology
Conforti C, Dianzani C, Agozzino M, Giuffrida R, Marangi GF +6 more
Plain English Researchers studied skin problems experienced by people who tested positive for COVID-19. They reviewed 655 patients and found various skin conditions, such as rashes and lesions, with 250 having erythematous maculopapular rashes and 146 showing vascular issues. Understanding these skin symptoms is important because they can help identify people with COVID-19, even if they don’t have typical symptoms, and they may indicate how serious the illness could become.
Who this helps: This helps doctors and healthcare providers in diagnosing COVID-19.