Original article

JIM 2026; 3 (3): e1209
DOI: 10.61012/JIM_202608_1209

Communication challenges in newborn screening: what the public knows (and doesn’t)

Costanzo M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Bianco S.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Caterino M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Cevenini A.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy Close
ORCID , Cozzolino M.
CEINGE–Biotecnologie Avanzate Franco Salvatore, Naples, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Diagnostic Services, University Hospital of Padua, Padua, Italy Close
ORCID , Bani M.
Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Italy Close
ORCID , Ruoppolo M.
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy
margherita.ruoppolo@unina.it Close
ORCID

JIM 2026; 3 (3): e1211
DOI: 10.61012/JIM_202608_1211

How reliable are large language models in metabolic dietetics? A cross-sectional benchmarking evaluation

Tosi M.
Metabolic Diseases Unit, Department of Pediatrics, Vittore Buzzi Children’s Hospital, Milan, Italy
martina.tosi@unimi.it Close
ORCID , Muscarella M.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
ORCID , Gugelmo G.
Division of Metabolic Diseases, Department of Medicine, University Hospital of Padua, Padua, Italy Close
ORCID , Pinto A.
Department of Dietetics, Birmingham Women's and Children’s Hospital, Birmingham, UK Close
ORCID , Suárez González M.
Department of Pediatrics, Hospital Universitario Central de Asturias, Oviedo, Spain Close
ORCID , Poloni S.
Nutrition and Dietetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil Close
ORCID , Höller A.
Division of Nutrition and Dietetics, University Hospital Innsbruck, Innsbruck, Austria Close
ORCID , Perico V.
Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy Close
ORCID , Favaro A.
Regional Center for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Pediatric Unit C, University Hospital of Verona, Verona, Italy Close
ORCID , Tavian A.
SOSD Technical Health Care Professions – Dietitian and Regional Coordinating Center for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy Close
ORCID , Belvedere A.
Independent AI Researcher, Verona, Italy Close
ORCID , Dianin A.
Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy Close
ORCID

JIM 2026; 3 (2): e1169
DOI: 10.61012/JIM_202605_1169

Newborn screening for hypergalactosemia: a 42-year single-center experience in Italy

Bracci B.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy
beatrice.bracci@unito.it Close
ORCID , Della Croce di Dojola M.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Saraceno E.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Pavanello E.
Newborn Screening Laboratory, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID , Pagliardini V.
Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, Turin, Italy Close
ORCID

JIM 2026; 3 (2): e1171
DOI: 10.61012/JIM_202605_1171

External quality assurance in newborn screening: design, implementation, and outcomes of the SIMMESN program

Funghini S.
Newborn Screening, Clinical Biochemistry and Clinical Pharmacy Lab, Meyer Children’s Hospital IRCCS, Florence, Italy
s.funghini@meyer.it Close
ORCID , Rizzo C.
Metabolic Diseases and Hepatology Unit, Bambino Gesù Pediatric Hospital IRCCS, Rome, Italy Close
ORCID , Guaraldo V. E.
Prenatal and Newborn Screening Service, Clinical Biochemistry Unit, City of Health and Science University Hospital of Turin, Turin, Italy Close
ORCID , Alberti L.
Department of Laboratory Medicine and Diagnostic Biotechnology, Laboratory Chemical Chemistry, Hospital of Legnano, Milan, Italy Close
ORCID , Perrone Donnorso M.
Pediatric Clinic Unit, Endocrinology Division, DINOGMI, University of Genoa, Genoa, Italy Close
ORCID , Santagata S.
Clinical Pathology Unit, Newborn Screening Center, Policlinico Umberto I University Hospital, Rome, Italy Close
ORCID , Simonetti S.
Clinical Pathology and Newborn Screening Unit, Giovanni XXIII University Hospital, Bari, Italy Close
ORCID , Carducci C.
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy Close
ORCID

JIM 2025; 2 (4): e1050
DOI: 10.61012_202511_1050

Nursing perspectives on inherited metabolic disorders: experience and educational needs in an Italian hospital setting

Gigante S.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy
silvia.gigante@irccs-sangerardo.it Close
ORCID , Pozzi K.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Sisti V. B.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
, Cerizza A.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Pretese R.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close
ORCID , Crescitelli V.
Department of Pediatrics, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy Close

JIM 2025; 2 (4): e1060
DOI: 10.61012_202511_1060

Describing the self-reported cognitive and emotional functioning of adult patients with urea cycle disorders

Capuozzo P.
Psychology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy
pasqualecapuozzo@gaslini.org Close
ORCID , Lanzafame G. M.T.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID , Meli C.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
, Schiaffino M. C.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Pessano S.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Perri F. N.
Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
, Salvatori B.
Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Venturino C.
Psychology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy Close
ORCID , Arena A. C.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID , Ruggieri M.
Unit of Expanded Neonatal Screening (ENBS) and Inherited Metabolic Disease, Unit of Clinical Pediatrics, Department of Clinical and Experimental Medicine, University Hospital “G. Rodolico – San Marco”, Catania, Italy Close
ORCID

JIM 2025; 2 (3): e996
DOI: 10.61012_20258_996

Ten-year experience of newborn screening for glutaric aciduria type 1 in northeast Italy: successes, challenges and unexpected findings

Gragnaniello V.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Puma A.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Gueraldi D.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Cazzorla C.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Loro C.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , Porcù E.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy Close
ORCID , D’Errico I.
Neuroradiology Unit, University Hospital of Padua, Padua, Italy Close
, Salviati L.
Clinical Genetics Unit, Department of Women’s and Children’s Health, University of Padua, Padua, Italy Close
ORCID , Burlina A. B.
Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, University Hospital of Padua, Padua, Italy
alberto.burlina@unipd.it Close
ORCID

JIM 2025; 2 (3): e1005
DOI: 10.61012_20258_1005

The effects of neonatal nutrition on 17-α-hydroxyprogesterone levels in classic congenital adrenal hyperplasia screening: a retrospective study

Tommolini M. L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy
maria.tommolini@unich.it Close
ORCID , Frisco A.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Zucchelli M.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Di Carlo G.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Natale L.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Petruccioli R.
Department of Innovative Technologies in Medicine and Dentistry, “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Semeraro D.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Verrocchio S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Foley D.
Waters Corporation, Wilmslow, United Kingdom Close
, Chiavaroli V.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Di Valerio S.
U.O.C. Neonatal Intensive Care Unit, S. Spirito Hospital, ASL Pescara, Pescara, Italy Close
ORCID , Cicalini I.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Cufaro M. C.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID , Valentinuzzi S.
Center for Advanced Studies and Technology (CAST), “G. d’Annunzio” University of Chieti-Pescara, Chieti, Italy Close
ORCID

JIM 2025; 2 (3): e1007
DOI: 10.61012_20258_1007

Survey on dietetic expertise and clinical application of the ketogenic diet in Italy: what professional resources are available for inherited metabolic disorders?

Guglielmetti M.
Ketogenic Metabolic Therapy Laboratory, Department of Public Health, Forensic and Experimental Medicine, University of Pavia, Pavia, Italy
monica.guglielmetti@unipv.it Close
ORCID , Nurti R.
Pediatric Clinical Nutrition Service, UOC Intensive Care Unit and Neonatal Pathology Neonatal Care, Department of Women’s and Children’s Health, Padova University Hospital, Padova, Italy Close
ORCID , Lessa C.
ASST Nord Milano, Corporate Dietary Service, Sesto San Giovanni (MI), Italy Close
ORCID , Cipriani A.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
, Troiano E.
Socio-Educational Services Department, Municipality Rome III; Scientific Association for Food, Nutrition, and Dietetics (ASAND), Close
ORCID , De Amicis R.
Obesity Unit and Laboratory of Nutrition and Obesity Research, Department of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy Close
ORCID

JIM 2025; 2 (2): e920
DOI: 10.61012_20255_920

Advancing newborn screening in Spain: a consensus-based proposal for a uniform panel

García-Villoria J.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain
jugarcia@clinic.cat Close
ORCID , Delgado-Pecellín C.
Clinical Biochemistry Department, Virgen del Rocío University Hospital, Institute of Biomedicine of Sevilla (IBiS/CSIC), Sevilla, Spain Close
, López R. M.
Division of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clinic of Barcelona, IDIBAPS, CIBERER, Barcelona, Spain Close
, González-Lamuño D.
Department of Medical and Surgery Sciences, School of Medicine-IDIVAL, Universidad de Cantabria-Hospital M. Valdecilla, Santander, Spain
domingo.gonzalez-lamuno@unican.es Close
ORCID , On behalf of the Neonatal Screening Study Group of AECOM
The members of the Neonatal Screening Study Group of AECOM are presented in the Authors’ Contributions section Close

JIM 2025; 2 (2): e918
DOI: 10.61012_20255_918

Access to life-saving foods for special medical purposes for patients with inherited metabolic disorders: a national survey of Italian dietitians

Gentilucci M.
Nutrition Unit, Local Health Authority of Pescara, Pescara, Italy
mica.gentilucci@gmail.com Close
ORCID , Salera S.
Regional Centre for Newborn Screening, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy Close
, Massimino E.
Department of Clinical Medicine and Surgery, Federico II University, Via Sergio Pansini 5, Naples, Italy Close
ORCID , Pistolesi C.
Dietetic Unit, Careggi University Hospital, Florence, Italy Close
, Paterno G.
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Bari, Italy Close
, Tavian A.
SOSD Technical Health Care Professions, Dietitian and Regional Coordinating Centre for Rare Diseases, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy Close
ORCID , On behalf of SIMMESN Working Group for Dietetic and Nutrition
Close

JIM 2025; 2 (1): e712
DOI: 10.61012_20252_712

Adolescent perceptions of healthcare services for inherited metabolic disorders and genetic diseases: insights from a survey in a pediatric hospital

Tummolo A.
Department of Metabolic Diseases, Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy
albina.tummolo@policlinico.ba.it Close
ORCID , Stellacci A.
Section of Legal Medicine, Interdisciplinary Department of Medicine, Bari Policlinico Hospital, University of Bari "Aldo Moro", Bari, Italy Close
ORCID , Massari G.
Presidio Ospedaliero Di Venere, ASL Bari, Bari, Italy Close
, De Giovanni D.
Department of Metabolic Diseases, Clinical Genetics, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy Close
, Abbasciano V.
Interdisciplinary Department of Medicine, Aldo Moro University of Bari, Bari, Italy Close
, Martinelli A.
Health Prevention Department, Local Health Authority of Bari, Bari, Italy Close
, Dario R.
A.U.O.C., Policlinico di Bari, Bari, Italy Close
, Melpignano L.
A.U.O.C., Policlinico di Bari, Bari, Italy Close
ORCID

JIM 2025; 2 (1): e707
DOI: 10.61012_20252_707

Changes in the care of patients with lysosomal storage diseases in the post-COVID-19 era

Piovani P.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy
paola.piovani@asufc.sanita.fvg.it Close
, Epifani E.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Migli L.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Scapin A.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
, Bon M.
Regional Coordinating Center for Rare Diseases, University Hospital of Udine, Udine, Italy Close
ORCID

JIM 2025; 2 (1): e702
DOI: 10.61012_20252_702

Ensuring the right to adequate school menu for children with metabolic or ketogenic diets: a national survey of clinical and food service dietitians

Tosi M.
Department of Health Sciences, University of Milan, Milan, Italy
martina.tosi@unimi.it Close
ORCID , Guglielmetti M.
Ketogenic Metabolic Therapy Laboratory, Department of Public Health, Forensics and Experimental Medicine, University of Pavia, Pavia, Italy Close
ORCID , Marchi G.
Servizio Educazione e Istruzione, Comune di Pistoia, Pistoia, Italy Close
, Gentilucci M.
Nutrition Unit, Local Health Authority of Pescara, Pescara, Italy Close
ORCID , Gugelmo G.
Department of Medicine, Division of Metabolic Diseases, University Hospital of Padua, Padua, Italy Close
ORCID , De Amicis R.
International Center for the Assessment of Nutritional Status and the Development of Dietary Intervention Strategies (ICANS-DIS), Department of Food, Environmental and Nutritional Sciences (DeFENS), University of Milan, Milan, Italy Close
ORCID , Dianin A.
Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Pediatric Unit C, University Hospital of Verona, Verona, Italy Close
ORCID , Troiano E.
Social Educational Directorate of Rome III, Montesacro Municipality, Rome, Italy Close
ORCID , Zuvadelli J.
Clinical Department of Pediatrics, San Paolo Hospital, ASST Santi Paolo e Carlo, Milan, Italy Close
ORCID , Bruni G.
Dietetic Unit, Meyer Children University Hospital IRCCS, Florence, Italy Close
ORCID , (ASAND) On behalf of Technical Scientific Association of Food, Nutrition and Dietetics
Close
, (SIMMESN) Italian Society for the Study of Inborn Errors of Metabolism and Newborn Screening
Close

JIM 2025; 2 (1): e700
DOI: 10.61012_20252_700

The role of paternal engagement in phenylketonuria: exploring psychological outcomes in children

Gaiga G.
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital of Padua, Padua, Italy
giacomo.gaiga@aopd.veneto.it Close
, Gazzera A.
Division of Inherited Metabolic Diseases, Reference Centre Expanded Newborn Screening, University Hospital of Padua, Padua, Italy Close