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 an Open Access, 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> Zinc in neonatal health: a mini-review https://jpnim.com/index.php/jpnim/article/view/e150205 <p class="p1">Zinc is an essential trace element with catalytic, structural, and regulatory <span class="s1">functions relevant to neonatal growth, immune competence, epithelial integrity,</span> <span class="s2">neurodevelopment, and metabolic programming. Neonates at greatest</span> risk of zinc deficiency include preterm and very-low-birth-weight infants, growth-restricted newborns, exclusively breastfed infants and infants with prolonged parenteral nutrition, high gastrointestinal losses, or severe systemic disease. This mini-review summarizes current evidence on zinc in neonatal health, with emphasis on biological plausibility, clinical manifestations of deficiency, and the potential benefits and limits of supplementation. Zinc supplementation may improve short-term growth in selected preterm or low-birth-weight infants, while effects on bronchopulmonary dysplasia, long-term neurodevelopment, and other prematurity-related outcomes remain uncertain. Zinc has also been evaluated as an adjunct to phototherapy for neonatal hyperbilirubinemia and as an adjunct to antibiotics in young-infant sepsis, but heterogeneity in populations, dosing, timing, and outcomes precludes routine use. Associations between zinc status and autism spectrum disorder or later cardiometabolic outcomes remain biologically plausible but not clinically proven. Overall, zinc supplementation in neonates should be targeted to documented or strongly suspected deficiency and high-risk clinical contexts, with monitoring for efficacy, safety, and interactions with other trace elements.</p> Roberta Pintus Alessandra Atzei Vassilios Fanos Luca Maggio Copyright (c) 2026 © Hygeia Press 2026-07-28 2026-07-28 15 2 e150205 e150205 10.7363/150205 Early neonatal presentation of Joubert syndrome: a case report https://jpnim.com/index.php/jpnim/article/view/e150201 <p class="p1"><span class="s1"><strong>Introduction:</strong> Joubert syndrome (JS) is a rare genetic disorder char­acterized by a distinctive midbrain-hindbrain malformation identifiable through brain imaging. Clinically, JS manifests as hypotonia, irregular respiratory patterns, oculomotor apraxia, ataxia, and developmental delay, and it is often accompanied by multi-organ involvement. Although no </span>definitive treatment exists, early diagnosis is crucial for timely intervention<span class="s1"> and improved outcomes. This case report describes a neonatal presentation of JS, emphasizing the importance of early recognition and radiological data.</span></p> <p class="p1"><span class="s2"><strong>Case report:</strong> We present the case of a female neonate born at 39 weeks and 3 days, initially diagnosed with transient respiratory distress. The infant subsequently exhibited recurrent episodes of desaturation, abnormal eye movements, and hypotonia. Magnetic resonance imaging (MRI) revealed posterior fossa malformations consistent with JS, in­cluding vermian dysplasia, the characteristic “molar tooth sign” of the mesencephalon, and a “bat-wing” morphology of the fourth ventricle. Genetic testing confirmed JS. Further evaluations showed no evidence of systemic involvement. </span></p> <p class="p1"><span class="s3"><strong>Discussion:</strong> JS remains a diagnostic challenge due to its broad phenotypic </span><span class="s1">spectrum. Early symptoms, such as respiratory distress and oculomotor abnormalities, can be subtle or mistaken for other neonatal conditions. MRI findings play a critical role in confirming the diagnosis, while genetic testing provides valuable information for family counseling. Comprehensive and multidisciplin­ary management, including neurological, oph­thalmological, and developmental monitoring, is key for improving patient outcomes. This case highlights the importance of early diagnosis and multidisciplinary care in rare genetic disorders such as JS.</span></p> Beatriz Andrade Ana Sofia Silva Mariana Mixão Filipa Proença Isabel Sampaio Raquel Gouveia Copyright (c) 2026 © Hygeia Press 2026-07-28 2026-07-28 15 2 e150201 e150201 10.7363/150201