Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) https://jpnim.com/index.php/jpnim <p>The <strong>Journal of Pediatric and Neonatal Individualized Medicine (JPNIM)</strong> is a peer-reviewed interdisciplinary journal which provides a forum on new perspectives in pediatric and neonatal medicine. The aim is to discuss and to bring readers up to date on the latest in research and clinical pediatrics and neonatology. Special emphasis is on developmental origin of health and disease or perinatal programming and on the so-called ‘-omic’ sciences. Systems medicine blazes a revolutionary trail from reductionist to holistic medicine, from descriptive medicine to predictive medicine, from an epidemiological perspective to a personalized approach. The journal will be relevance to clinicians and researchers concerned with personalized care for the newborn and child. Also medical humanities will be considered in a tailored way.</p> <p>Article submission (original research, review papers, invited editorials and clinical cases) will be considered in the following fields: fetal medicine, perinatology, neonatology, pediatrics, developmental programming, psychology and medical humanities.</p> en-US Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) 2281-0692 <p>© Hygeia Press</p> <p> </p> <h3>Copyright and publishing rights</h3> <p>Regarding copyright, before publication, Authors declare that, in consideration of the action of JPNIM in reviewing and editing their submission, they transfer, assign, or otherwise convey all copyright ownership, including any and all rights incidental thereto, exclusively to the JPNIM Publisher (Hygeia Press di Corridori Marinella).</p> <div> <div> <div> <div> <div> <p>Authors have the opportunity to reuse figures, tables and selected text up to 250 words from their article as finally published, providing that full and accurate credit shall be given to publication in JPNIM and that modifications are noted (otherwise no changes may be made).</p> </div> </div> </div> </div> </div> Selected Abstracts of the 21st International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 22-25, 2025 https://jpnim.com/index.php/jpnim/article/view/e150102 <p class="p1"><strong><span class="s1">Selected Abstracts of the 21<sup>st</sup> International Workshop on Neonatology and Pediatrics; Cagliari (Italy); October 22<sup>nd</sup>-25<sup>th</sup>, 2025</span></strong></p> <p class="p1"><strong>EVOLUTION AND REVOLUTION IN NEONATOLOGY AND PEDIATRICS</strong></p> <p class="p1"> </p> <p class="p1"><span class="s1">The Workshop has been organized with the <strong>patronage</strong> of the Autonomous Region of Sardinia, City of Cagliari, Azienda Ospedaliera di Cagliari, University of Cagliari, Board of Physicians of the Province of Cagliari, Albanian-Italian Pediatric Society (AIPS), AMBO (<em>Alleanza per un Ambiente a misura di Bambino</em>: alliance for a child-friendly environment), Board of Directors of Italian Pediatrics Schools, European Project Better4u, European Project Life Milch, National Coordination of Heads of Pediatric Departments (CONAPP), Italian Federation of Family Pediatricians (FIMP), Italian-Arabian Pediatric Society (IAPS), Italian-Romanian Pediatric Society (IRPS), Italian-Swedish Cultural Association (ACIS), Norman Group of Neonatal and Pediatric Nephrology, International Academy of Perinatal Medicine (IAPM), Italian Society of Pediatric Allergology and Immunology (SIAIP), Italian Society of Clinical Biochemistry (SIBioC), Italian Society of Gynecology of Infancy and Adolescence (SIGIA), Italian Society of Neonatology (SIN), “SIPO in the World” Association, Italian Society of Pediatric Psychology (S.I.P.Ped.), Italian Society for Research on Essential Oils (SIROE), Italian Society of Neonatal Nursing (SIN INF), “<em>Pediatria Più</em>” Association, Italian Society of Developmental Origins of Health and Disease (SI-DOHaD), Italian Society of Pediatricians (SIMPE).</span></p> <p> </p> <p><strong>ABS 1. PLATELET TRANSFUSIONS IN NEONATES: IMPACT ON COAGULATION AND IMMUNO­LOGICAL EFFECTS</strong> • D. Gialamprinou (Thessaloniki, Greece)</p> <p><strong>ABS 2. PATTERNS AND ASSOCIATED FACTORS OF CONGENITAL ANOMALIES AMONG NEONATES IN 14 YEMENI GOVERNORATES (2021-2023): A CASE-CONTROL STUDY</strong> • H. Al-Atnah (Sana’a, Yemen)</p> <p><strong>ABS 3. INTERNATIONAL STANDARDS FOR TWIN NEWBORN WEIGHT, LENGTH, AND HEAD CIRCUMFERENCE BY GESTATIONAL AGE AND SEX: THE INTERGROWTH-21<sup>ST</sup> CROSS-SECTIONAL STUDY</strong> • F. Giuliani, S. Deantoni, S. Gandino, A. Coscia, I. Stura, S.H. Kennedy, A.T. Papageorghiou, E. Bertino, G. Migliaretti, J. Villar for the International Fetal and Newborn Growth Consortium (INTERGROWTH-21<sup>st</sup>) (Turin and Moncalieri, Italy; Oxford, UK)</p> <p><strong>ABS 4. IMPACT OF MATERNAL SARS-CoV-2 INFEC­TION ON NEONATAL URINARY METABOLOME: A LONGITUDINAL STUDY OVER THE FIRST MONTH OF LIFE</strong> • D. Gianotti, F. Cannas, N. Zuddas, A. Kindt, F. Cesare Marincola, V. Fanos (Genoa and Cagliari, Italy; Leiden, The Netherlands)</p> <p><strong>ABS 5. ARTIFICIAL INTELLIGENCE IN NEONATOLOGY: WHERE ARE WE NOW?</strong> • K.K. Kopeć (Cagliari, Italy)</p> <p><strong>ABS 6. A TWISTED TIBIA IN A PRETERM NEONATE</strong> • M. Olla, F. Zanco, F.F. Comisi, E. Esposito, C. Spiga, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 7. SCHRÖDINGER’S FETUS</strong> • S. Nasikas, F.F. Comisi (Athens, Greece; Cagliari, Italy)</p> <p><strong>ABS 8. UNEXPLAINED HYPOTONIA IN THE NEW­BORN: A CASE THAT CHALLENGES FIRST IMPRESSIONS</strong> • E. Esposito, F.F. Comisi, M. Loi, P. Beretta, V. Marinelli, F. Lai, V. Fanos, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 9. ACUTE MONOARTHRITIS IN A PEDIATRIC PATIENT: A CASE OF <em>SALMONELLA</em>-INDUCED REACTIVE ARTHRITIS</strong> • L. Saggioro, M. Casarotto, M.R. Ferrara, F. Marino, C. Lorenzetto, E. Madeddu, S. Bellonzi, F. Rigon, L. Calandriello, F. Sansone, E. Fiumana, S. Rugolotto (Rovigo and Padua, Italy)</p> <p><strong>ABS 10. NUTRITIONAL MANAGEMENT OF THE NEW­BORN WITH NECROTIZING ENTEROCOLITIS: A CASE REPORT</strong> • F. Zanco, E. Esposito, F.F. Comisi, M. Melis, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 11. POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME IN PEDIATRIC AGE: A CASE REPORT</strong> • E. Madeddu, M.R. Ferrara, M. Casarotto, F. Marino, L. Saggioro, F. Rigon, S. Bellonzi, C. Lorenzetto, F. Sansone, L. Calandriello, S. Rugolotto (Rovigo, Padua, and Verona, Italy)</p> <p><strong>ABS 12. INFANTILE COLIC AND INTESTINAL INFLAM­MATION</strong> • B.M. Trapani (Paris, France)</p> <p><strong>ABS 13. A STUDY IN CYCLES: CLINICAL CLUES FROM CHILDHOOD VOMITING</strong> • F.F. Comisi, E. Esposito, F. Zanco, M.G. Cuboni, C. Soddu, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 14. WHEN BREATHING FAILS, BLAME THE HEART</strong> • S. Maninchedda, M.G. Cuboni, V. Lagona, P. Neroni, D. Manus, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 15. UNUSUAL LOCALIZATION OF <em>BARTONELLA HENSELAE</em>: SPONDYLODISCITIS IN A FIVE-YEAR-OLD CHILD</strong> • F. Marino, M.R. Ferrara, M. Casarotto, F. Sansone, S. Bellonzi, C. Lorenzetto, F. Rigon, E. Fiumana, L. Saggioro, L. Calandriello, E. Madeddu, S. Rugolotto (Rovigo, Padua, and Verona, Italy)</p> <p><strong>ABS 16. CLAVICLE FRACTURES AT BIRTH: EXPERI­ENCE FROM TWO CASE REPORTS</strong> • E. Esposito, F.F. Comisi, P. Beretta, F. Zanco, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 17. HIDDEN IN PLAIN SIGHT: WHEN HERPES ISN’T THE ANSWER</strong> • F.F. Comisi, E. Esposito, F. Zanco, M.I. Cicalò, M. Pepe, R. Minelli, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 18. SEPSIS-ASSOCIATED ENCEPHALOPATHY IN A SIX-MONTH-OLD INFANT</strong> • L. Calandriello, M. Casarotto, M.R. Ferrara, S. Bellonzi, C. Lorenzetto, F. Marino, F. Rigon, E. Fiumana, E. Madeddu, A. Mussari, L. Saggioro, F. Sansone, S. Rugolotto (Rovigo, Padua, and Verona, Italy)</p> <p><strong>ABS 19. PREVENTING AND FACING OBESITY THROUGH THE BETTER4U EU-FUNDED PROJECT</strong> • M. Mauri, A. Noto, C. Piras, K.K. Kopeć, P. Baire, L. Atzori, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 20. SUBSTANCES THAT MAY INCREASE THE RISK OF PRECOCIOUS PUBERTY IN CHILDREN</strong> • S. Vendemmia, G. Kuli Lito, D. Anca Plesca, M. Vendemmia (Aversa and Naples, Italy; Tirana, Albania; Bucharest, Romania)</p> <p><strong>ABS 21. LOCKED EYE, PAINFUL HEAD: A RARE PEDIATRIC NEUROPATHY</strong> • M. Pepe, M.G. Cuboni, F.F. Comisi, E. Spreafico, V. Santi, M. Gherardini, A. Chabert, T. Foiadelli, S. Savasta (Cagliari and Pavia, Italy)</p> <p><strong>ABS 22. WHEN SINUSITIS TURNS DANGEROUS: A PEDIATRIC CASE OF POTT’S PUFFY TUMOR WITH INTRACRANIAL EXTENSION</strong> • G. Sanna, M. Pepe, D. Murru, B. Percivale, G. Pintori, G. Masia, A.M. Monni, M. Loi, V. Corsi, C. Marcheselli, A. Cualbu (Cagliari and Nuoro, Italy)</p> <p><strong>ABS 23. BOTULISM IN CHILDREN AND ADULTS</strong> • S. Vendemmia, G. Kuli Lito, D. Anca Plesca, B. Al-Zoubi, M. Vendemmia (Aversa and Naples, Italy; Tirana, Albania; Bucharest, Romania; Amman, Jordan)</p> <p><strong>ABS 24. ANISAKIASIS</strong> • S. Vendemmia, G. Kuli Lito, D. Anca Plesca, B. Al-Zoubi, M. Vendemmia (Aversa and Naples, Italy; Tirana, Albania; Bucharest, Romania; Amman, Jordan)</p> <p><strong>ABS 25. MRI BEYOND CT IN PEDIATRIC SPINAL TRAUMA: A CASE REPORT</strong> • M. Pepe, G. Sanna, D. Murru, B. Percivale, G. Pintori, G. Masia, A.M. Monni, M. Loi, V. Corsi, C. Marcheselli, A. Cualbu (Cagliari and Nuoro, Italy)</p> <p><strong>ABS 26. SYSTEMIC LUPUS ERYTHEMATOSUS IN A PEDIATRIC PATIENT: A CASE WITH ONSET COMPLICATED BY CONCOMITANT VISCERAL LEISHMANIASIS</strong> • C. Trenta, C. Giardino, P. Currao, V. Ibba, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 27. A (NOT SO) UNEXPECTED PERINATAL STROKE: WHY EARLY RISK IDENTIFICATION MATTERS</strong> • V. Lagona, M.G. Cuboni, S. Maninchedda, M. Melis, M. Loi, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 28. PERIVIABILITY AND THE CINDERELLA EFFECT</strong> • S. Nasikas, F.F. Comisi (Athens, Greece; Cagliari, Italy)</p> <p><strong>ABS 29. OSTEOMYELITIS OF THE CLAVICLE IN A PEDIATRIC PATIENT: A CASE REPORT</strong> • F. Zara, F. Marino, M.R. Ferrara, M. Casarotto, F. Sansone, S. Bellonzi, C. Lorenzetto, F. Rigon, E. Fiumana, L. Saggioro, L. Calandriello, E. Madeddu, S. Rugolotto (Padua, Rovigo, and Verona, Italy)</p> <p><strong>ABS 30. A COMPLEX CLINICAL CASE ON THE MANAGEMENT OF LATE PRETERM INFANT</strong> • F. Zanco, E. Esposito, F.F. Comisi, A. Atzei, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 31. TRANSIENT ELEVATION OF FECAL CALPROTECTIN IN AN INFANT: CASE REPORT</strong> • G. Trapani (Sanremo, Italy)</p> <p><strong>ABS 32. PD-L1 EXPRESSION IN THE HUMAN PLACENTA AT THE MATERNAL-FETAL INTERFACE PROTECTS FETAL DEVELOPMENT, ESTABLISHING MATERNAL IMMUNO­TOLERANCE</strong> • M. Piras, P. Ziranu, A. Pretta, M. Piludu, F. Cau, G.S. Porcu, G. Faa (Cagliari and San Gavino, Italy; Philadelphia, PA, USA)</p> <p><strong>ABS 33. METABOLOMIC INSIGHTS AND RESEARCH GAPS IN RUGBY: FROM ACUTE RESPONSES TO RECOVERY</strong> • V. Bongiovanni, M. Caria, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 34. WEST NILE AND USUTU VIRUSES</strong> • S. Vendemmia, G. Kuli Lito, D. Anca Plesca, M. Vendemmia (Aversa and Naples, Italy; Tirana, Albania; Bucharest, Romania)</p> <p><strong>ABS 35. SPORTOMICS: BASKETBALL AND VOLLEY­BALL</strong> • M. Caria, V. Bongiovanni, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 36. EXPLORING UNCERTAINTY: LONG-TERM OUT­COMES AND NEUROPLASTICITY AFTER PRE­NATAL BRAIN HEMORRHAGE</strong> • V. Bongiovanni, M. Melis, V. Marinelli, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 37. THE SYNDROME WITH A THOUSAND FACES: A PEDIATRIC PRESENTATION OF SJÖGREN’S SYNDROME</strong> • M. Rossi, S. Campus, V. Ibba, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 38. NEONATAL TRANSPORT FROM THE ISLANDS: A COMPARISON BETWEEN SARDINIA AND THE AZORES</strong> • R. Pirisino, A. Atzei, R. Couto, V. Fanos (Cagliari, Italy; Angra do Heroísmo, Ilha Terceira, Azores, Portugal)</p> <p><strong>ABS 39. ECHOES IN THE CSF: METABOLOMIC MARKERS OF ACUTE IMMUNE NEUROPATHIES</strong> • F.F. Comisi, R. Pintus, E. Esposito, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 40. MATERNAL LIFESTYLES AND ENDOCRINE-DISRUPTING CHEMICALS: SARDINIAN COHORT IN THE EUROPEAN LIFE-MILCH PROJECT</strong> • F. Gola, S. Petza, R. Pintus, S. Angioni, P. Palanza, M.E. Street, A.M. Papini, A. Dessì, V. Fanos (Cagliari, Parma, and Sesto Fiorentino, Italy)</p> <p><strong>ABS 41. PERINATAL INFLAMMATION: A CHALLENGE FOR FETAL NEURODEVELOPMENT</strong> • C. Loddo, R. Pintus, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 42. ASSOCIATION OF ENDOTHELIN-1 AND CYTOKINE LEVELS WITH HYPERFIBRINOLYSIS OF PREGNANT WOMEN WITH PREECLAMPSIA AND THE DEFICITS IN FIBRINOGEN AND EXTRINSIC PATHWAY FACTORS OF THEIR NEONATES</strong> • C.G. Kontovazainitis, D. Gialamprinou, A. Fleva, A. Giannakou, M.E. Bessina, M. Varsami, T. Theodoridis, E. Diamanti, G. Mitsiakos (Thessaloniki, Greece)</p> <p><strong>ABS 43. AMONG NEONATES BORN TO WOMEN WITH PRE­ECLAMPSIA, BRONCHOPULMONARY DYSPLASIA IS ASSOCIATED WITH INTERLEU­KIN 2 LEVELS AT BIRTH, WHILE NEONATAL THROMBOCYTOPENIA IS ASSOCIATED WITH MATERNAL INTERLEUKIN 2 AND ENDOTHE­LIN</strong> • C.G. Kontovazainitis, D. Gialamprinou, A. Fleva, A. Giannakou, M. Varsami, M.E. Bessina, A. Pouliakis, T. Theodoridis, E. Diamanti, G. Mitsiakos (Thessaloniki and Athens, Greece)</p> <p><strong>ABS 44. PEDIATRIC ARTERIAL TORTUOSITY SYN­DROME: CLINICAL AND GENETIC INSIGHTS FROM KOSOVO</strong> • A. Maloku, A. Mustafa, U. Rexha, R. Bejiqi (Prishtina and Gjakova, Republic of Kosovo)</p> <p><strong>ABS 45. IRON-DEFICIENCY ANAEMIA IN PEDIATRIC CONGENITAL HEART DISEASE: A SIX-MONTH CLINICAL EVALUATION</strong> • A. Maloku, R. Bejiqi, A. Gerguri (Prishtina and Gjakova, Republic of Kosovo)</p> <p><strong>ABS 46. SUCCESSFUL MANAGEMENT OF PEDIATRIC PITYRIASIS RUBRA PILARIS WITH ETANERCEPT: A CASE REPORT FROM PRISHTINA</strong> • A. Maloku, A. Gerguri, A. Batalli (Prishtina, Republic of Kosovo)</p> <p><strong>ABS 47. TRUNCUS ARTERIOSUS: MANAGEMENT OF AN UNEXPECTED HEART</strong> • A. Abis, A. Atzei, G. Ottonello, P. Neroni (Cagliari, Italy)</p> <p><strong>ABS 48. PEDIATRIC VOMITING: A CLINICAL CHALLENGE</strong> • A. Barsalini, L. Anedda, E. Erriu, G. Cherchi (Cagliari, Italy)</p> <p><strong>ABS 49. BEYOND THE HEART: A COMPLEX CLINICAL CASE</strong> • E. Esposito, P. Beretta, F.F. Comisi, F. Zanco, P. Neroni, A. Dessì, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 50. OCULAR FISHHOOK INJURY IN A 6-YEAR-OLD PATIENT</strong> • C. Sbaffi, D. Bonsanto, R. Puxeddu, M. D’Atri, G. Cherchi (Cagliari, Italy)</p> <p><strong>ABS 51. LOOK BETTER TO SEE BEYOND: A DIAGNOS­TIC CHALLENGE IN PEDIATRIC CHOROIDAL DETACHMENT</strong> • C. Giardino, A. Corrias, C. Soddu, S. Savasta (Cagliari, Italy)</p> <p><strong>ABS 52. CASE REPORT OF AN EARLY PRETERM NEWBORN WITH PRENATAL DIAGNOSIS OF SHAAF-YANG SINDROME</strong> • A. Lai, D. Rizzo, M. Loi, V. Fanos (Cagliari, Italy)</p> <p><strong>ABS 53. FLOPPY INFANT: MORE THAN JUST WEAKNESS</strong> • M. Rossi, A. Corrias, M. Marica, S. Savasta (Cagliari, Italy)</p> --- Various Authors Copyright (c) 2025 © Hygeia Press 2025-11-30 2025-11-30 15 1 e150102 e150102 10.7363/150102 Selected Abstracts of the XI National Congress of SIMPEets (Italian Society of Pediatricians, Third Sector Organization, Società Italiana Medici Pediatri, Ente del Terzo Settore); Naples (Italy); November 28-30, 2025 https://jpnim.com/index.php/jpnim/article/view/e150101 <p class="p1"><strong><span class="s1">Selected Abstracts of the XI National Congress of SIMPEets (Italian Society of Pediatricians, Third Sector Organization, <em>Società Italiana Medici Pediatri, Ente del Terzo Settore</em>); Naples (Italy); November 28-30, 2025</span></strong></p> <p class="p1"> </p> <p class="p1"><span class="s1"><strong>NO ONE LEFT BEHIND. A NEW WAY OF BEING PEDIATRICIANS. GOOD CLINICAL AND SOCIAL PRACTICES <br /></strong></span><span class="s1"><strong>[NESSUNO ESCLUSO. UN NUOVO MODO DI ESSERE PEDIATRI. LE BUONE PRATICHE CLINICHE E SOCIALI]</strong></span></p> <p class="p1"> </p> <p class="p1"><strong>ABS 1. NO ONE EXCLUDED: A NEW WAY OF BEING PEDIATRICIANS </strong><strong>[NESSUNO ESCLUSO: UN NUOVO MODO DI ESSERE PEDIATRI] • </strong>M. Giuliano, G. Mele</p> <p class="p1"><strong>ABS 2. THE ESSENTIAL ROLE OF NUTRITION IN NEURODEVELOPMENT </strong><strong>[ESSENZIALITÀ DELLA NUTRIZIONE PER IL NEUROSVILUPPO] • </strong>G. Trapani</p> <p class="p1"><strong>ABS 3. QUALITY MARKERS OF BOVINE MILK AND NUTRITIONAL WELL-BEING </strong><strong>[MARCATORI DI QUALITÀ DEL LATTE E BENESSERE NUTRIZIONALE] • </strong>L. Cavallarin, S. Cirrincione, M. Giribaldi, C. Lamberti</p> <p class="p1"><strong>ABS 4. INFLUENZA VACCINATION BETWEEN APPRO­PRIATENESS AND COVERAGE: IS THE ROAD STILL LONG? </strong><strong>[LA VACCINAZIONE ANTINFLUENZALE TRA APPROPRIATEZZA E COPERTURE: LA STRADA È ANCORA LUNGA?] • </strong>R. Russo</p> <p class="p1"><strong>ABS 5. KEY DETERMINANTS OF PEDIATRIC HEALTH AND NEURODEVELOPMENT </strong><strong>[I DETERMINANTI CHIAVE PER LA SALUTE PEDIATRICA E IL NEUROSVILUPPO] • </strong>G. Squazzini </p> <p class="p1"><strong>ABS 6. INTERCEPTIVE ORTHODONTICS: WHY THE PEDIATRICIAN PLAYS A KEY ROLE </strong><strong>[ORTODONZIA INTERCETTIVA: PERCHÉ IL PEDIATRA È FONDAMENTALE] • </strong>S. Zizzo, P. Manzo</p> <p class="p1"><strong>ABS 7. INFANTILE HEMANGIOMAS </strong><strong>[GLI EMANGIOMI INFANTILI] • </strong>F. Barbato</p> <p class="p1"><strong>ABS 8. ELECTROCARDIOGRAPHY AT HAND IN THE FAMILY PEDIATRICIAN’S OFFICE </strong><strong>[L’ELETTROCARDIOGRAMMA A PORTATA DI MANO NELL’AMBULATORIO DEL PEDIATRA DI FAMIGLIA] • </strong>F. De Luca, A. Putortì, M. Giuliano</p> <p class="p1"><strong>ABS 9. RARE DISEASES: THE ROLE OF GENETIC TESTING IN DIAGNOSIS AND GENETIC COUNSELING </strong><strong>[MALATTIE RARE: IL RUOLO DEGLI ESAMI GENETICI AI FINI DIAGNOSTICI E DEL COUNSELING GENETICO] • </strong>M. Priolo</p> <p class="p1"><strong>ABS 10. RSV PROPHYLAXIS WITH NIRSEVIMAB IN BIRTH CENTERS OF THE CAMPANIA REGION: RESULTS FROM THE 2024-2025 SEASON </strong><strong>[PROFILASSI ANTI-VRS CON NIRSEVIMAB NEI PUNTI NASCITA DELLA CAMPANIA: I RISULTATI DELLA STAGIONE 2024-2025] • </strong>A. Umbaldo, G. D’Uonno, F. Raimondi</p> <p class="p1"><strong>ABS 11. BIOACTIVE NUTRITIONAL COMPONENTS AND NEURODEVELOPMENTAL PROTECTION FROM ENVIRONMENTAL CONTAMINANTS </strong><strong>[COMPONENTI NUTRIZIONALI BIOATTIVI E PROTEZIONE DEL NEUROSVILUPPO DAI CON­TAMINANTI AMBIENTALI] • </strong>B.M. Trapani</p> <p class="p1"><strong>ABS 12. CARE: EMPATHIC ROBOTICS FOR THERAPY AND MONITORING </strong><strong>[CARE: LA ROBOTICA EMPATICA PER TERAPIA E MONITORAGGIO] • </strong>C. Autorino, M. Staffa</p> --- Various Authors Copyright (c) 2025 © Hygeia Press 2025-11-27 2025-11-27 15 1 e150101 e150101 10.7363/150101 Global evolution of research on breast milk composition: a bibliometric analysis https://jpnim.com/index.php/jpnim/article/view/e150113 <p class="p1">Breast milk is the optimal source of infant nutrition, with its composition <span class="s1">influencing growth, development, and immune function. As interest in its bioactive components has increased, mapping research trends in this field is essential. This study provides a comprehensive bibliometric analysis of global research on breast milk composition. Publications indexed in the Scopus database from 1983 to 2024 were analyzed. Descriptive statistics were computed in Microsoft® Excel®, and VOSviewer (version 1.6.20) was used for bibliometric mapping. A total of 4,289 documents were retrieved, comprising 3,658 original articles (85.3%) and 631 reviews (14.7%). Output increased steadily, with a sharp rise between 2019 and 2023, peaking in 2022. Research originated from 133 countries, led by the United States (28.0%), China (7.9%), and the United Kingdom (7.5%). The University of California, Davis, and the University of Western Australia were the most productive institutions, while the U.S. National Institutes of Health and the National Natural Science Foundation of China were the top funders. Keyword co-occurrence analysis identified 7 major thematic clusters, including the gut micro­</span><span class="s2">biome, fatty acids, micronutrients, maternal obe­sity, and human milk oligosaccharides. </span><span class="s1">Over time, research has shifted from a primary focus on fatty acids to emerging themes such as microbiome interactions and the influence of mater­nal health and diet. To our knowledge, this is the first bib­liometric study offering a global per­spective on breast milk composition research. These findings highlight evolving research pri­orities and provide evidence to guide future investigations, funding strategies, and policies that support breastfeeding and improve maternal-infant health outcomes worldwide.</span></p> Bunga A. Paramashanti Dea Anita Ariani Kurniasih Lintang Purwara Dewanti Meralda Nindyasti Eka Budiastutie Yanuarti Petrika Yessi Marlina Yunita Amraeni Nadhea Alriessyanne Hindarta Copyright (c) 2026 © Hygeia Press 2026-04-29 2026-04-29 15 1 e150113 e150113 10.7363/150113 Application of artificial intelligence (AI) in patients with autism spectrum disorder and associated comorbidities: a narrative review https://jpnim.com/index.php/jpnim/article/view/e150105 <p class="p1"><span class="s1">Artificial intelligence (AI) is used in medicine to assist clinicians in diagnosing and treating patients with various medical conditions. It can have specific benefits for children with special needs, as it can assist in </span>daily activities by enhancing support for these children. The incidence and <span class="s2">prevalence of autism spectrum disorder (ASD) are rapidly increasing. ASD </span><span class="s1">can be associated with other comorbid conditions involving multisystem medical and genetic disorders. AI can help with the early diagnosis and management of ASD and related comorbid conditions. This review aimed to study how AI can be used in patients with ASD and comorbidities.</span></p> <p class="p1"><span class="s1">A narrative review was conducted to find the answer to the study. </span><span class="s3">Electronic </span><span class="s1">PubMed/Medline and Google Scholar databases were searched for peer-reviewed articles. Papers that were not written in the English language were excluded. Results of the study found that, along with providing autistic children the practice of identifying facial expressions, interacting socially, and responding appropriately to social cues, AI can help deal with complex comorbid conditions. AI heavily depends on large amounts of good-quality data, so it faces fundamental technological challenges, such as hallucinations, false results, data privacy, security, and ethical concerns. However, by addressing the challenges and limitations, AI can be a great tool for children with ASD and their families to navigate the associated comorbidities and improve the overall quality of life of these patients. Future research and collaboration of providers with policymakers and community partners can overcome the challenges for AI applications in patients with ASD and associated comorbidities.</span></p> Sandhya J. Kadam Yasamin Pashmineh Azar Swetang J. Shah Copyright (c) 2026 © Hygeia Press 2026-03-03 2026-03-03 15 1 e150105 e150105 10.7363/150105 Low-dose medicines: scientific evidence and perspectives for developmental age • [Medicinali a basso dosaggio: basi scientifiche e prospettive per l’età evolutiva] [Article in English and Italian] https://jpnim.com/index.php/jpnim/article/view/e150106 <p class="p1"><strong>ENGLISH TEXT: </strong>The use of low-dose medicinal products, diluted and subjected to standardized succussion treatment or dynamization, has been recognized by the World Health Organization as a component of Traditional, Complementary and Integrative Medicine, and is widespread in more than 100 countries, with over 600 million users. It is based on holistic principles and on a unique production process. This article presents an overview of fundamental research, articulated along two lines: chemical-physical studies – <span class="s1">which, thanks to advanced techniques such as Raman and UV-vis spectroscopy, nuclear magnetic resonance, and differential scanning calorimetry, have highlighted electromagnetic signatures and specific reorganizations of water molecules in dynamized dilutions; and biological studies, conducted in vitro (human cells and microglia) and in vivo (<em>Lemna gibba</em>, frog tadpoles, murine models), which document measurable effects in­dependent of placebo. Some studies hypothesize </span>mechanisms based on nanostructures and possible <span class="s1">electromagnetic interactions. These hypotheses remain controversial and require further in­dependent experimental confirmation. Finally, studies on the use of such medicinal products in developmental age are analyzed, discussing clinical implications, future perspectives, and methodological challenges, and underscoring the importance of rigorous standards to integrate the use of low-dose medicinal products subjected to standardized dynamization treatment into modern healthcare systems. Although not exhaustive, this article offers insights for further investigation and for the optimization of research protocols with a high level of methodological rigor.</span></p> <p class="p1"><strong>ITALIAN TEXT: </strong>L’utilizzo di medicinali a basso dosaggio, diluiti e sottoposti a trattamento di succussione standardizzato o dinamizzazione, è stato riconosciuto dall’Organizzazione Mondiale della Sanità come componente delle Medicine Tradizionali, Complementari e Integrative, ed è diffuso in oltre 100 paesi, con più di 600 milioni di utenti. Si fonda su principi olistici e su un processo unico di produzione. Questo articolo presenta una panoramica della ricerca fondamentale, articolata in <span class="s2">due filoni: studi chimico-fisici – che, grazie a tecniche </span>avanzate come la spettroscopia Raman, UV-vis, la risonanza magnetica nucleare e la calorimetria differenziale a scansione, hanno messo in luce firme elettromagnetiche e riorganizzazioni specifiche delle molecole d’acqua nelle diluizioni dinamizzate; studi biologici, condotti in vitro (cellule umane e microglia) e in vivo (<em>Lemna gibba</em>, girini di rana, modelli murini), che documentano effetti misurabili indipendenti dal placebo. Alcuni studi ipotizzano meccanismi basati su nanostrutture e possibili interazioni elettromagnetiche. Tali ipotesi restano controverse e necessitano di ulteriori conferme sperimentali indipendenti. Infine, si analizzano studi sull’uso di tali medicinali nell’età evolutiva, discutendo implicazioni cliniche, prospettive future e sfide metodologiche, e sottolineando l’importanza di standard rigorosi per integrare l’uso dei medi­cinali a basso dosaggio sottoposti a trattamento di dinamizzazione standardizzato nei sistemi sanitari moderni. Sebbene non esaustivo, questo articolo offre spunti per ulteriori approfondimenti e per l’ottimizzazione di protocolli di ricerca ad alto rigore metodologico.</p> Gianfranco Trapani Marco Lauro Copyright (c) 2026 © Hygeia Press 2026-03-06 2026-03-06 15 1 e150106 e150106 10.7363/150106 Evolution of management of esophageal atresia with or without tracheoesophageal fistula (EA/TEF) across five decades at a single academic medical center https://jpnim.com/index.php/jpnim/article/view/e150108 <p class="p1"><strong>Background: </strong>Despite improved survival in esophageal atresia with or without tracheoesophageal fistula (EA/TEF), complications remain common. We evaluated surgical outcomes at our institution over time and compared them to published benchmarks.</p> <p class="p1"><strong>Methods: </strong>We performed a retrospective single-center review of patients with EA/TEF treated between 2008 and 2023, comparing outcomes to a prior institutional cohort from 1975 to 1995. Patients were identified using ICD and CPT codes.</p> <p class="p1"><strong>Results: </strong>A total of 132 patients were included across both cohorts. Patient characteristics were similar between groups. Operative repair increased from 84% to 100% (p = 0.001). Stricture (40% vs. 37%) and TEF recurrence (7% vs. 10%) rates remained stable and comparable to benchmarks. Leak rate decreased from 19% to 12%, lower than benchmark reports. Overall mortality dropped significantly from 22% to 6% (p = 0.012). Among high-risk Waterston C infants, survival improved markedly from 38% to 79% (p = 0.015).</p> <p class="p1"><strong>Conclusion: </strong>EA/TEF survival has significantly improved, especially among high-risk infants with low birth weight and cardiac disease. While stricture and recurrence rates remain unchanged, leak rates have improved. These findings reflect evolving surgical practices and improved neonatal care.</p> Caitlin J. Cain-Trivette Emily Manin Alexa Turpin Anjile An P. Stephen Oh Shaun Steigman Demetri Merianos Nitsana A. Spigland Angela Kadenhe-Chiweshe Copyright (c) 2026 © Hygeia Press 2026-04-09 2026-04-09 15 1 e150108 e150108 10.7363/150108 Triglyceride response to intravenous lipid emulsion in small vs non-small for gestational age newborns: a retrospective cohort https://jpnim.com/index.php/jpnim/article/view/e150116 <p class="p1"><span class="s1"><strong>Background:</strong> Small for gestational age (SGA) infants may have reduced lipid tolerance during intravenous lipid emulsion (ILE) therapy. We compared triglyceride (TG) levels in SGA versus non-SGA neonates receiving ILE and explored associations with neonatal morbidities.</span></p> <p class="p1"><span class="s1"><strong>Methods:</strong> This retrospective study included neonates who received ILE for at least 24 hours. TG levels were measured at approximately 24 hours of life and at 30-60 days. Statistical analyses compared TG levels, the incidence of hypertriglyceridemia (TG &gt; 250 mg/dL), and the change in TG levels over time between the groups.</span></p> <p class="p1"><span class="s1"><strong>Results:</strong> 165 neonates were included, 56 (33.9%) SGA and 109 (66.1%) non-SGA. The mean ± SD gestational age at birth and birth weight were 34.2 ± 3.0 vs. 29.8 ± 2.6 weeks (p &lt; 0.001), and 1,446 ± 336 vs. 1,325 ± 350 grams, respectively (p = 0.02). TG levels at 24 hours were significantly higher in the SGA group (144 [98, 189] vs. 85 [62, 116] mg/dL, p &lt; 0.001). Incidence of hypertriglyceridemia was higher in SGA infants (10.7% vs. 1.8%, p = 0.019). Despite shorter duration of exposure (3.0 [2.0, 4.5] vs. 4.5 [3.0, 7.0] days, p &lt; 0.001), a subgroup of SGA infants with follow-up data had higher TG levels at 30-60 days of life compared to non-SGA infants (106 [84, 155] vs. 70 [56, 91] mg/dL, p = 0.005). In multivariable analysis, SGA status, intraventricular hemorrhage, use of cardiotropic agents, and ClinOleic (vs. SMOFlipid) were independently associated with higher TG at 24 hours.</span></p> <p class="p1"><span class="s1"><strong>Conclusion:</strong> SGA infants showed higher early TG levels and greater risk of hypertriglyceridemia during ILE, with elevations persisting at 30-60 days in the subgroup of SGA infants with follow-up data available. These findings support early TG monitoring and individualized lipid titration for SGA infants. Interpretation should consider the retrospective single-center design, baseline differences between SGA and non-SGA infants, and limited SGA follow-up sampling.</span></p> Sagee Nissimov Lilach Hofi Sharon Sarah Cahanovitc Yael Simpson-Lavy Dotan Shaniv Calanit Hershkovich-Shporen Copyright (c) 2026 © Hygeia Press 2026-04-30 2026-04-30 15 1 e150116 e150116 10.7363/150116 Prevalence and outcomes of different antenatal care status in the Maternity and Children Hospital in Jeddah, Saudi Arabia: a prospective study https://jpnim.com/index.php/jpnim/article/view/e150103 <p class="p1"><strong>Background: </strong>Antenatal care (ANC) is beneficial for preserving the health of mothers and babies. This study aimed to investigate the prevalence and outcomes of deliveries among women with different ANC statuses.</p> <p class="p1"><strong>Methods: </strong>This prospective study included 1,349 deliveries, classified into 3 groups: A, no ANC; B, full or partial ANC at another hospital without any documentation; and C, full ANC at our institute. Data were collected prospectively using a standardized data collection sheet. The primary outcomes were maternal and neonatal all-cause mortality. Secondary outcomes included maternal and neonatal morbidity indicators.</p> <p class="p1"><strong>Results: </strong>Of the 1,349 deliveries, 274 (20.3%) were among women with no ANC, who also had the highest mean patient age (30.1 ± 6.2 years; p &lt; 0.001). Mothers without ANC were more likely to be non-citizens and to have higher parity. Deliveries in this group were associated with significantly higher odds of maternal Intensive Care Unit (ICU) admission, neonatal ICU (NICU) admission, low birth weight, early neonatal death, and intrauterine fetal death compared with mothers who received adequate ANC. Outcomes for women with undocumented or partial ANC were comparable to those with adequate ANC, without statistically significant differences.</p> <p class="p1"><strong>Conclusion: </strong>Targeted initiatives should focus on high-risk populations to promote the importance of planned delivery and consistent ANC throughout pregnancy.</p> Hatoon Safdar Mohammed Al-Hindi Faisal Almalki Amjed Alattas Reham Fatani Mansour AlQurashi Copyright (c) 2026 © Hygeia Press 2026-04-29 2026-04-29 15 1 e150103 e150103 10.7363/150103 Impact of early probiotic supplementation on the gut microbiota and urinary and fecal metabolome of formula-fed infants delivered via elective cesarean section https://jpnim.com/index.php/jpnim/article/view/e150107 <p class="p1"><span class="s1">Early postnatal life is a critical period for gut microbiota establishment and metabolic programming, particularly in infants born by cesarean section and </span><span class="s2">fed with infant formula, two factors known to disrupt physiological microbial</span><span class="s1"> colonization. This exploratory pilot study aimed to provide a longitudinal characterization of microbiota and metabolome dynamics in infants born by elective cesarean section and formula-fed receiving Lactobif® (Buona S.p.a. Società Benefit, Sesto Fiorentino, Italy), a commercial probiotic formulation containing <em>Lacticaseibacillus rhamnosus</em>, LGG® (DSM33156) and <em>Bifidobacterium longum subsp. infantis</em>, Bifin02™ (DSM33361). A multi-omics approach was applied, integrating 16S rRNA gene-based microbiota profiles with <sup>1</sup>H NMR-based metabolomics of fecal and urinary samples collected before and during </span><span class="s3">supplementation. Longitudinal analyses revealed dynamic shifts in gut microbial </span><span class="s1">composition, notably a post-treatment increase in <em>Bifidobacteriaceae</em> and a reduction in <em>Enterobacteriaceae</em>, accompanied by changes in fecal metabolites associated with fermentation, including lactate, acetate, and propionate. An expansion of <em>Veillonellaceae</em> was also observed, suggesting the progressive emergence of a more functionally interconnected microbial ecosystem. </span><span class="s2">Urinary metabolomic profiles showed time-dependent </span><span class="s1">modulation of metabolites involved in energy me­tabolism, amino acid turnover, and microbial co-metabolism, reflecting systemic metabolic adaptation during early infancy. The longitudinal, multi-compartment design offers descriptive evidence of temporal positive changes in microbial composition and metabolic outputs, revealing both shared patterns and marked interindividual variability. The integrated analysis of microbiota and metabolomics data highlights the value of multi-biofluid, multi-omics strategies for capturing functional maturation of the </span><span class="s2">gut ecosystem and supports the need for personalized </span><span class="s1">approaches to early-life microbiome modulation.</span></p> Federico Cannas Natalia Zuddas Flaminia Cesare Marincola Maria Barbara Pisano Osama Al Jamal Mario Moi Gianfranco Trapani Roberta Pintus Angelica Dessì Vassilios Fanos Copyright (c) 2026 © Hygeia Press 2026-03-18 2026-03-18 15 1 e150107 e150107 10.7363/150107 Resistance and efficiency of amikacin in critically ill septic children: a cross-sectional study https://jpnim.com/index.php/jpnim/article/view/e150112 <p class="p1"><strong>Background: </strong>Therapeutic drug monitoring facilitates the individualiza­tion of amikacin dosing for patients based on pharmacodynamics and pharmacokinetics. Its efficacy is measured by peak serum concentration (C<sub>peak</sub>) / minimum inhibitory concentration (MIC) ratio. This study aims to determine the efficacy of 15 mg/kg/day of amikacin in critically ill septic pediatric patients.</p> <p class="p1"><strong>Methods: </strong>This cross-sectional analytic study involved 25 pediatric critically ill septic patients. All patients received amikacin based on clinical diagnosis and/or culture results. Amikacin C<sub>peak</sub> and MIC were measured.</p> <p class="p1"><strong>Results: </strong>Amikacin C<sub>peak</sub> was not achieved in 44% of the study group, with the MIC being at least 64 <span class="s1">mcg/mL</span>, leading to a very low C<sub>peak</sub>/MIC ratio.</p> <p class="p1"><span class="s2"><strong>Conclusion: </strong>Critically ill pediatric patients who are administered amikacin </span>require frequent monitoring and dose adjustment to achieve the target level, as subtherapeutic levels may contribute to resistance, while elevated levels are linked to non-oliguric acute kidney injury.</p> Aya Osama Mohamed HebatAllah Fadel Algebaly Bola Fathallah Aziz May Abdelfattah Mohamed Amira Fathi Srour Miriam Magdy Aziz Mohamed Abdallah Abd El Megied Copyright (c) 2026 © Hygeia Press 2026-04-30 2026-04-30 15 1 e150112 e150112 10.7363/150112 Homeodomain-only protein homeobox (HOPX) expression in the human placenta: a new actor in maternal fetal tolerance during gestation? https://jpnim.com/index.php/jpnim/article/view/e150115 <p class="p1"><span class="s1">HOPX (homeodomain-only protein), a member of the homeodomain family, is involved in various developmental processes and immune regulation. This study highlights HOPX expression in human placenta and its potential role in modulating maternal immune responses during pregnancy. Twenty-four human placental samples, ranging from 11 to 40 weeks of gestation, were analyzed using immunohistochemistry to analyze HOPX expression. The results showed that HOPX was expressed predominantly in the syncytiotrophoblasts of placental villi, with heterogeneus distribution of immunoreactivity. In some placentas, HOPX was uniformly expressed across villi, while in others expression was absent. No significant expression of HOPX was observed in cytotrophoblasts, Hofbauer cells, or developing vascular structures. HOPX may play a key role in promoting maternal immune tolerance by modulating the activity of maternal T-cells in the placental interface. The variability in HOPX expression could indicate its involvement in pathological conditions, such as maternal non-acceptance of the fetus, and may be linked to pregnancy complications. Furthermore, the presence of HOPX in the nuclei of syncytiotrophoblasts underscores its potential role as a transcription factor involved in placental development and immune regulation. This study provides novel insights into the role of HOPX in maintaining maternal-fetal immune tolerance and highlights the need for further investigation into its involvement in pregnancy-related immune responses and complications.</span></p> Gavino Faa Monica Piras Tiziana Cabras Barbara Manconi Alessandra Olianas Flaviana Cau Marco Piludu Federica Iavarone Irene Messana Cristina Contini Massimo Castagnola Copyright (c) 2026 © Hygeia Press 2026-04-30 2026-04-30 15 1 e150115 e150115 10.7363/150115 McCune-Albright syndrome with loss of vision and its management: a case report https://jpnim.com/index.php/jpnim/article/view/e150104 <p class="p1">McCune-Albright syndrome (MAS) is defined by the triad of <em>café-au-lait </em>macules, endocrinopathies, and polyostatic fibrous dysplasia (FD) of the bone. It results from somatic <em>GNAS</em> mutations leading to mosaic Gαs activation. FD can result in bone deformities, fractures, and cranial nerve compression, including optic neuropathy. Optic nerve compression by FD may lead to visual disturbances or even blindness.</p> <p class="p1">We report a 13-year-old boy with MAS and left eye visual impairment due to optic nerve compression by FD.</p> <p class="p1">Endoscopic transnasal optic nerve decompression of the optic nerve was performed. Postoperatively, the patient exhibited slight visual improvement, though delayed intervention may have limited recovery.</p> <p class="p1">The case report highlights endoscopic decompression as a safe and ef­fective approach for FD-related optic neuropathy, though optimal timing remains debated. Prophylactic intervention in high-risk cases warrants further investigation to prevent irreversible vision loss.</p> Mazin Mahmoud Fawzi Muaid Ismaiel Aziz Baban Basil Mohammednatheer Saeed Faehaa A. Al-Mashhadane Copyright (c) 2026 © Hygeia Press 2026-02-25 2026-02-25 15 1 e150104 e150104 10.7363/150104 Expanding the spectrum of SATB2-associated syndrome: a case with hearing loss and enlarged perivascular spaces https://jpnim.com/index.php/jpnim/article/view/e150111 <p class="p1"><span class="s1"><em>SATB2</em>-associated syndrome (SAS) is a rare neurogenetic disorder char­acterized by intellectual disability, absent or limited speech, craniofacial and dental anomalies, and behavioral disturbances. While most cases are associated with normal hearing, some may present with atypical features. </span></p> <p class="p1"><span class="s1">We describe an 8-year-old male with global developmental delay, absent verbal language, autism spectrum disorder, and bilateral moderate sensorineural hearing loss. Dysmorphic facial features and neuroimaging findings of enlarged perivascular spaces were also identified. Whole-exome sequencing ultimately revealed a heterozygous pathogenic <em>SATB2</em> variant (c.1285C&gt;T; p.Arg429*), confirming SAS.</span></p> <p class="p1"><span class="s1">This case expands the phenotypic spectrum of SAS by reporting a rare association with sensorineural hearing loss and enlarged perivascular spaces. It emphasizes the importance of considering SAS in patients with global developmental delay and syndromic features and supports the utility of exome sequencing in achieving a definitive diagnosis.</span></p> Mário Ribeiro Mariana Gomes Inês Candeias Cláudia Patraquim Sandra Costa Copyright (c) 2026 © Hygeia Press 2026-04-29 2026-04-29 15 1 e150111 e150111 10.7363/150111 Liver cirrhosis associated with double heterozygosity for genetic hemochromatosis (H63D) and alpha-1 antitrypsin deficiency (M-Malton) – A case report https://jpnim.com/index.php/jpnim/article/view/e150114 <p class="p1"><span class="s1">Genetic hemochromatosis (GH) and alpha-1 antitrypsin (AAT) deficiency </span><span class="s2">(AATD)<span class="Apple-converted-space"> </span>are two autosomal recessive disorders associated with an increased risk</span><span class="s1"> for liver injury. Among different AATD and GH genotypes, the M-Malton and the S variants are frequent in Sardinia, an Italian island of the Mediterranean Sea, suggesting that a possible relationship between these two metabolic disorders in chronic liver diseases should be considered. Here we report a case of liver cirrhosis associated with double heterozygosity for M-Malton AATD and H63D GH alleles. The histological observation revealed micronodular cirrhosis with focal micro- and macrovesicular steatosis with globules of AAT protein and iron overload. The clinical and laboratory picture led to listing the patient for orthotopic liver transplantation. Two sons, who were apparently healthy, on molecular testing showed a normal AAT genotype, whereas one of them was heterozygous for the H63D GH mutation. This clinical case underlines the importance of the diagnostic role played by the liver biopsy, in particular when rare genetic variants could be involved.</span></p> Gavino Faa Giuseppina Pichiri Stefano Coni Anna Annunziata Giuseppe Fiorentino Marco Piludu Monica Piras Pierpaolo Coni Copyright (c) 2026 © Hygeia Press 2026-04-30 2026-04-30 15 1 e150114 e150114 10.7363/150114 Reactive infectious mucocutaneous eruption (RIME) – A new face of a known entity https://jpnim.com/index.php/jpnim/article/view/e150109 <p class="p1"><span class="s1">Reactive infectious mucocutaneous eruption (RIME) is a serious adverse mucocutaneous reaction that occurs primarily in children and adolescents after a viral or bacterial infection most commonly caused by <em>Mycoplasma pneumoniae</em> (formerly known as <em>Mycoplasma</em>-induced rash and mucositis [MIRM]). Although MIRM was first described as a new entity in 2015, recent updates to its nomenclature have expanded its scope to include other bacteria and viruses that can cause similar mucocutaneous reactions. While the case presented here involves a mucocutaneous reaction in response to a <em>Mycoplasma</em> infection, the updated nomenclature highlights the importance of recognizing and understanding this condition to better integrate it into the diagnosis of future mucocutaneous reactions. </span></p> <p class="p1"><span class="s1">We present the case of a 16-year-old male adolescent who was admitted to the hospital with bilateral phlegmon, aphthous stomatitis, glossitis, bilateral conjunctivitis and papules on both foot soles. He had had a 10-day history of an airway infection, characterized by fever and cough. Diagnostic tests revealed elevated infectious markers and positive serologies for <em>Mycoplasma pneumoniae</em>. Based on these findings, the patient was admitted to the Pediatric Ward and diagnosed with RIME. He was treated with ceftriaxone, azithromycin, methylprednisolone, ocular ofloxacin, and a mucositis solution. The patient remained hospitalized for 7 days and showed progressive improvement, with complete resolution of symptoms after 4 weeks.</span></p> <p class="p1"><span class="s1">Through this case, we aim to highlight the signs and symptoms of RIME, which can help ensure timely diagnosis and appropriate management of new cases.</span></p> Matilde Caetano Cláudia Miguel Carolina Dias Inês Coelho Daniel Tiago Maria João Virtuoso Copyright (c) 2026 © Hygeia Press 2026-04-29 2026-04-29 15 1 e150109 e150109 10.7363/150109