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- A Reviewed Approach to Vitamin D Supplementation in Pediatric Age in PortugalPublication . Rêgo, Carla; Cordeiro-Ferreira, Gonçalo; Lages-Fonseca, Maria J.; Moura-Relvas, Mariana; Ricardo Ferreira, Ricardo; Pinto-da Costa, SofiaVitamin D deficiency is a well-established cause of rickets in children and has been reported as associated to impacts on other systems and organs. Vitamin D deficiency and insufficiency are pediatric worldwide global health problems. Although data on the prevalence of vitamin D deficiency and insufficiency in the Portuguese pediatric population are scarce, data for Portuguese subpopulations and equivalent regions allows us to speculate that the prevalence of vitamin D deficiency in Portugal should be also relevant. The current article focuses on vitamin D supplementation at pediatric age in Portugal reviewing the prevalence data of vitamin D insufficiency/deficiency for Portugal, the main groups and the risk factors for vitamin D deficiency and educational measures and vitamin D supplementation recommendations for different risk factors/groups.
- Case Report: Hypomorphic Ligase 4 deficiency - a Paradigm of immunodysregulation.Publication . Andrade, Catarina; Cordeiro, Ana Isabel; Pinto, Marta Valente; Neves, Conceição; Martins, Catarina; Villartay, Jean-Pierre; Neves, João FarelaDNA Ligase 4 is critical to nonhomologous end joining, necessary for V(D)J recombination in T and B cell development. Ligase 4 deficiency is a rare autosomal recessive disorder caused by hypomorphic mutations in the DNA Ligase 4 gene, that can lead to a wide range of phenotypes. We describe a case of Ligase 4 deficiency causing a type of T-B-NK+ atypical SCID, highlighting the clinical and immunologic manifestations. An eight-year-old female, from São Nicolau Island (Cape Verde), presented at our hospital with a history of recurrent pneumonia and suppurative otitis, multiple skin lesions attributed to fungal and bacterial infections since the age of two, and recurrent diarrhea and growth impairment, beginning at the age of four. The laboratory workup showed almost absent B cells, marked hypogammaglobulinemia, and an impaired response to protein antigens. Flow cytometry revealed normal NK and T cell counts, but with nearly absent naïve T cells and TCR-Va7 expressing T lymphocytes, and reduced proliferative responses to mitogens and antigens. An oligoclonal Vβ repertoire was identified by FACS, and PROMIDISa analysis revealed a skewed TCRa repertoire signature. A 477 PID-related genes NGS panel identified a homozygous R278H mutation in the DNA Ligase 4 gene, previously reported to cause Ligase 4 deficiency. Immunoglobulin replacement and prophylactic therapies were started while waiting for hematopoietic stem cell transplantation. She has experienced fluctuating transaminase levels. The cutaneous biopsy was suggestive of lupus pernio. She has shown recurrent inflammatory signs in her limbs, with documented tenosynovitis on ultrasound. Homozygous R278H in Ligase 4 has been linked to various ranges of manifestations in Ligase 4 deficient patients. In our report, this genotype resulted in T-B-NK+ atypical SCID, that after proper prophylaxis has a predominant autoimmune phenotype.
- Efficacy of Elexacaftor-Tezacaftor-Ivacaftor in Portuguese Adolescents and Adults with Cystic Fibrosis Carrying Non-F508del VariantsPublication . Pinto, M O; Santos, A S; Castanhinha, S
- Chronic Nonbacterial Osteomyelitis in Neuroradiology - Behavior and Evolution of Vertebral and Mandibular Lesions on ImagingPublication . Silva, José Sá; Bettencourt, Sofia; Madureira, Inês; Conde, Marta; Conceição, CarlaBackground: Chronic nonbacterial osteomyelitis (CNO) is a rare non-infectious inflammatory musculoskeletal disease where imaging plays a key diagnostic role. Vertebral and mandibular lesions are frequent manifestations, meaning their awareness is crucial for the neuroradiologist to avoid delays in diagnosis and treatment. Objective: Characterize vertebral and mandibular CNO lesions on imaging to assist practicing neuroradiologists in better identifying this disease. Materials and methods: Retrospective review of all CNO patients of our pediatric center, including only patients with vertebral or mandibular lesions. All imaging exams were analyzed to record lesion characteristics. Results: We included 13 patients (six male). The mean age of onset was 12.3 years. Ten patients had only vertebral lesions, two had only mandibular lesions, and one had both. For patients with vertebral lesions, the median number of levels affected was three, 81.8% had multiple levels affected, 90.0% had dorsal spine lesions, 72.7% had platyspondyly, and 81.8% had inflammatory changes. All vertebral lesions had at least partial resolution of inflammatory findings, the mean time of lesion activity was 2.5 years, and recurrence occurred in 27.3%. Three patients had sacral lesions, all with sacroiliitis. In patients with mandibular lesions, all had unilateral lesions involving the mandibular ramus, all had hyperostosis, periosteal reaction, bone edema, and soft tissue inflammation, all had partial resolution on follow-up, and one had recurrence. Conclusion: CNO vertebral lesions are not rare, are often multiple, predominantly affect dorsal levels, and most result in vertebral height loss. Resolution of vertebral inflammatory lesions is frequent, but so is recurrence. Sacral lesions may be present and result in sacroiliitis. The mandible may be a site of unifocal disease, typically affecting the ramus, with prominent bony changes and soft tissue inflammation.
- Inconsistency Between Pictures on Baby Diaper Packaging in Europe and Safe Infant Sleep Recommendations.Publication . de Visme, Sophie; Korevaar, Daniel A; Gras-Le Guen, Christèle; Flamant, Alix; Bevacqua, Martina; Stanzelova, Anna; Trinh, Nhung T H; Ciobanu, Dalia-Alexandra; Carvalho, Ana Araújo; Kyriakoglou, Ifigeneia; Fuentes, Maria; Refes, Yacine; Briand-Huchet, Elisabeth; Sellier, Anne-Laure; Harrewijn, Inge; Cohen, Jérémie F; Chalumeau, MartinObjective: To describe the level of inconsistency between pictures on baby diaper packaging and safe infant sleep recommendations (SISRs) in Europe. Study design: We attempted to identify all packaging of baby diapers sold in 11 European countries for infants weighing less than 5 kg through internet searches from July 2022 through February 2023. For each type of package, we extracted whether there was a picture depicting a baby, whether the baby was sleeping, and whether the picture of the sleeping baby was inconsistent with ≥1 of 3 SISRs: (i) nonsupine sleeping position, (ii) soft objects or loose bedding, or (iii) sharing a sleep surface with another person. Data were aggregated at the country level, and a random-effects meta-analysis of proportions was used to obtain summary estimates. The outcome was the summary estimate of the proportion of pictures that were inconsistent with SISRs. Results: We identified 631 baby diaper packaging types of which 49% (95% CI: 42-57; n = 311) displayed a picture of a sleeping baby. Among those 311 packages, 79% (95% CI 73-84) were inconsistent with ≥1 SISR, including a nonsupine sleeping position, 45% (95% CI 39-51), soft objects or loose bedding such as pillows or blankets, 51% (95% CI 46-57), and sharing a sleep surface with another person, 10% (95% CI 4-18). Conclusions: Pictures on baby diaper packaging in Europe are often inconsistent with SISRs. The prevention of sudden unexpected death in infancy requires action from manufacturers and legislators to stop parents' exposure to misleading images that may lead to dangerous practices.
- Biologic Therapies and Quality of Life in Pediatric Patients with Asthma: A Systematic Review.Publication . Vaz, Beatriz Luzio; Marrinhas, Daniel; Pereira, AnabelaBackground/Objectives: Pediatric asthma is the most prevalent chronic respiratory condition in children and adolescents worldwide and remains a major contributor to morbidity, school absenteeism, and the use of integrated healthcare services. The main goal of this systematic review is to synthesize the available evidence about the impact of biologic therapies on the quality of life in the pediatric population (children and adolescents) with asthma. Methods: This systematic review followed the PRISMA guidelines. A comprehensive search was performed across PubMed, Scopus, and Web of Science for articles published between 2015 and 2025 in English, Portuguese, or Spanish. Studies were eligible if they included pediatric patients (<18 years) with asthma receiving biologic therapies (e.g., omalizumab, mepolizumab, dupilumab) and reported health-related quality of life (HRQoL) outcomes using validated instruments. Article selection followed PICOS criteria and excluded reviews, case reports, and editorials. Risk of bias was assessed using the Mixed Methods Appraisal Tool. Results: A total of 576 articles were found and screened, and 8 studies were selected. The characteristics of the studies highlighted the involved countries, study design, number of participants, conditions, type of biologic intervention, duration, and follow-up. In addition, the importance of biologic therapies in patients' HRQoL was presented. All eight included studies reported statistically significant improvements in HRQoL using appropriate scales. Conclusions: The studies reinforced the importance of biologic therapies to improve HRQoL in both patients and families/caregivers. Implications for health promotion, in particular, greater involvement of integrated healthcare comprising health professionals, family, school contexts, and the community, are discussed.
- Childhood Anemia in Mozambique: A Multilevel Mixed-Effects Analysis of 2011-2022/23 Population-Based Surveys.Publication . Maulide Cane, Réka; Muhumuza Kananura, Rornald; Wasswa, Ronald; Gonçalves, Maria Patrícia; Varandas, Luís; Craveiro, IsabelBackground/Objectives: Anemia adversely affects children's cognitive and motor development and remains a global public health problem. This study aimed to identify the individual, feeding, household, and community determinants of anemia among children in Mozambique. Methods: We used pooled datasets of two Mozambique representative population-based surveys: the 2011 and 2022-2023 Demographic and Health Surveys. A total sample of 8143 children aged 6-59 months with available hemoglobin testing was included. Multilevel mixed-effects analysis was performed using STATA (18.0). Results: Over a decade, the prevalence of anemia in children aged 6-59 months remained high, increasing slightly from 69.1% in 2011 to 72.9% in 2022. Children aged 6-11 months were less likely to have anemia than children from other age groups (aOR = 0.77, 95% CI = 0.62-0.96). Children who suffered from illnesses (aOR = 1.44, 95% CI = 1.18-1.75), received vitamin A supplements (aOR = 0.76, 95% CI = 0.63-0.93), lived in female-headed households (aOR = 1.16, 95% CI = 1.01-1.32), and who lived in households with unimproved drinking water sources (aOR = 1.40, 95% CI = 1.19-1.65) were more likely to have anemia than their peers. Overall, 16% of the variability in anemia prevalence was attributed to differences between clusters (ICC = 0.16). Conclusions: Childhood anemia remains a critical public health challenge in Mozambique, with prevalence rates exceeding the average for sub-Saharan Africa. Multisectoral approaches to enhance essential supplies' provision and the primary healthcare monitoring of children at risk favored more investments in rural development and sustainable agriculture, water sanitation, and social care and gender-sensitive work policies that can help tackle childhood anemia.
- Nitrous Oxide-Induced Toxic Myeloneuropathy: Illustration of a Pediatric CasePublication . Da Costa Neves, Raquel; Gouveia, Ana Luísa; Marecos, Clara; Jacinto, Sandra; Rocha, Paula
- A Mother's Deficiency, a Baby's Challenge: Vitamin B12 Deficiency Related Seizures and Pancytopenia in an InfantPublication . Rebelo, Ana; Serôdio, Margarida; Caetano, Francisco Branco; Gomes Pereira, Andreia; Maia, RaquelAnemia is prevalent in pediatric age and it stems from diverse factors. While iron deficiency is a common cause above six months of age, other nutritional deficits contribute to the disease burden. During pregnancy, anemia due to nutritional deficits is associated with adverse outcomes for the newborn. Precise diagnosis of dietary deficits in the pediatric population is vital to avert negative health consequences. We describe the case of a six-month-old exclusively breastfed infant with a mother having unspecified anemia under folic acid supplementation. The infant presented with neurological symptoms, including paroxysmal events and developmental regression. Laboratory analysis revealed pancytopenia and severe vitamin B12 deficiency. The patient’s mother's serum level of vitamin B12 was also low and ant parietal cell antibodies were positive, suggesting maternal autoimmune gastritis. Treatment with hydroxocobalamin led to clinical and analytical improvement. Maternal deficiency is the major cause of cobalamin deficiency in infants. It is paramount to raise awareness to this issue to prevent its avoidable repercussions.
- Impact of COVID-19 Infection on Lung Function and Nutritional Status Amongst Individuals with Cystic Fibrosis: A Global Cohort Study.Publication . Semenchuk, Julie; Naito, Yumi; Charman, Susan C; Carr, Siobhán B; Cheng, Stephanie Y; Marshall, Bruce C; Faro, Albert; Elbert, Alexander; Gutierrez, Hector H; Goss, Christopher H; Karadag, Bulent; Burgel, Pierre-Régis; Colombo, Carla; Salvatore, Marco; Padoan, Rita; Daneau, Géraldine; Harutyunyan, Satenik; Kashirskaya, Nataliya; Kirwan, Laura; Middleton, Peter G; Ruseckaite, Rasa; de Monestrol, Isabelle; Naehrlich, Lutz; Mondejar-Lopez, Pedro; Jung, Andreas; van Rens, Jacqui; Bakkeheim, Egil; Orenti, Annalisa; Zomer-van Ommen, Domenique; da Silva-Filho, Luiz Vicente Rf; Fernandes, Flavia Fonseca; Zampoli, Marco; Stephenson, Anne LBackground: Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF). Methods: This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection diagnosed between January 1, 2020 and December 31, 2021. Forced expiratory volume in one second percent predicted (ppFEV1) and body mass index (BMI) twelve months prior to and following a diagnosis of COVID-19 were recorded. Change in mean ppFEV1 and BMI were compared using a t-test. A linear mixed-effects model was used to estimate change over time and to compare the rate of change before and after infection. Results: A total of 6,500 cases of COVID-19 in pwCF from 33 countries were included for analysis. The mean difference in ppFEV1 pre- and post-infection was 1.4 %, (95 % CI 1.1, 1.7). In those not on modulators, the difference in rate of change pre- and post-infection was 1.34 %, (95 % CI -0.88, 3.56) per year (p = 0.24) and -0.74 % (-1.89, 0.41) per year (p = 0.21) for those on elexacaftor/tezacaftor/ivacaftor. No clinically significant change was noted in BMI or BMI percentile before and after COVID-19 infection. Conclusions: No clinically meaningful impact on lung function and BMI trajectory in the year following infection with COVID-19 was identified. This work highlights the ability of the global CF community to unify and address critical issues facing pwCF.