Background: Elexacaftor/tezacaftor/ivacaftor (ETI) is the newest cystic fibrosis transmembrane conductance regulator (CFTR) modulator drug approved for the treatment of patients with cystic fibrosis (pwCF) aged ≥6 years with at least one copy of the F508del mutation (F) in the CFTR gene or another mutation that is responsive to treatment with ETI. This study determined the effectiveness and safety of ETI in a cohort of severely affected pwCF with an F/F genotype. Methods: Retrospective observational study in F/F pwCF treated for 48 weeks, enrolled in an ETI managed access program available to subjects with advanced lung disease (ppFEV₁ < 40). Twenty-six patients from three centres were included. The main outcomes included lung function, sweat chloride concentration (SCC), nutrition, frequency of pulmonary exacerbations (PEx), CFQ-R, and safety. Results: ppFEV₁ improved by 12.06 (95%CI 8.54, 15.57) from baseline after 4 weeks of treatment with ETI, 15.32 (11.3, 19.34) after 24 weeks, and 14.48 (10.64, 18.32) after 48 weeks. The increase in FEV₁ was accompanied by a decrease in SCC, improvement of BMI, and noticeable reduction in PEx. An overall good safety profile was observed. Conclusions: In F/F pwCF with advanced lung disease with an F/F genotype, ETI was safe and associated with clinical improvement.

To test a new method to calculate the Intraocular Lens (IOL) power, that combines R Factor and ALxK methods, that we called Advance Lens Measurement Approach (ALMA). Retrospective, Comparative, Observational study. Department of Medicine and Surgery, University of Salerno, Italy. Ninety one eyes of 91 patients previously treated with Photorefractive Keratectomy (PRK) or Laser-Assisted in Situ Keratomileusis (LASIK) that underwent phacoemulsification and IOL implantation in the capsular bag were analyzed. For 68 eyes it was possible to zero out the Mean Errors (ME) for each formula and for selected IOL models, in order to eliminate the bias of the lens factor (A-Costant). Main outcome, measured in this study, was the median absolute error (MedAE) of the refraction prediction. In the sample with ME zeroed (68 eyes) both R Factor and ALxK methods resulted in MedAE of 0.67 D. For R Factor 33 eyes (48.53%) reported a refractive error <0.5D, and 53 eyes (77.94%) reported a refractive error <1D, For ALxK method, 32 eyes (47.06%) reported a refractive error <0.5 D, and 53 eyes (77.94%) reported a refractive error <1 D. ALMA method, reported a MedAE of 0.55 D, and an higher number of patients with a refractive error <0.5 D (35 eyes, 51.47%), and with a refractive error <1 D (54 eyes, 79.41%). Based on the results obtained from this study, ALMA method can improve R Factor and ALxK methods. This improvement is confirmed both by zeroing the mean error and without zeroing it.

Multisystem inflammatory syndrome in children (MIS-C) is a potentially life-threatening condition occurring 2–6 weeks after Coronavirus disease 2019 (COVID-19) in previously healthy children and adolescents, characterized by clinical and laboratory evidence of multiorgan inflammation. We reported the case of a 6-year-old child presented with acute abdomen and then diagnosed with MIS-C. In addition, to better portray this new entity, we performed a systematic review of MIS-C gastrointestinal features and particularly on those mimicking surgical emergencies. We described the clinical presentation, the diagnostic approach and the therapeutic outcomes of our MIS-C patient. Parallel to this, we conducted a systematic literature search using Google Scholar, PubMed, EMBASE, Scopus, focusing on gastrointestinal MIS-C. Our patient was initially assessed by the surgical team due to his query acute abdomen. Following the diagnosis of MIS-C with myocarditis, intravenous methylprednisolone (2 mg/Kg/day) and intravenous immunoglobulins (2 gr/Kg single infusion) were promptly started, leading to clinical improvement. According to our literature search, patients with MIS-C have a high rate of severe abdominal symptoms resembling surgical emergencies (appendicitis, obstruction, etc.) and a not negligible number of those patients have been surgically explored with variable findings. We encourage pediatric surgeons in the upcoming months of COVID-19 pandemic to evaluate myocardial function prior to surgical abdominal exploration. In children with query acute abdomen, MIS-C should be promptly ruled out in order to avoid unnecessary surgeries that could worsen the already frail outcome of this new syndrome. Nevertheless, it should be considered that MIS-C might well encompass complications (e.g. appendicitis, segmental intestinal ischemia) which need swift surgical treatment.

Odevixibat, an ileal bile acid transporter (IBAT) inhibitor, is effective for the treatment of pruritus in children diagnosed with progressive familial intrahepatic cholestasis (PFIC) type 1 and 2. There are no studies showing the efficacy of Odevixibat in children with different subtypes of PFIC. We describe the case of a 6-year-old girl with chronic cholestatic jaundice. In the last 12 months laboratory data showed high serum levels of bilirubin (total bilirubin x 2.5 ULN; direct bilirubin x 1.7 ULN) and bile acids (sBA x 70 ULN), elevated transaminases (x 3–4 ULN), and preserved synthetic liver function. Genetic testing showed homozygous mutation in ZFYVE19 gene, which is not included among the classic causative genes of PFIC and determined a new non-syndromic phenotype recently classified as PFIC9 (OMIM # 619849). Due to the persistent intensity of itching [score of 5 (very severe) at the Caregiver Global Impression of Severity (CaGIS)] and sleep disturbances not responsive to rifampicin and ursodeoxycholic acid (UDCA), Odevixibat treatment was started. After treatment with odevixibat we observed: (i) reduction in sBA from 458 to 71 μmol/L (absolute change from baseline: −387 μmol/L), (ii) reduction in CaGIS from 5 to 1, and (iii) resolution of sleep disturbances. The BMI z-score progressively increased from −0.98 to +0.56 after 3 months of treatment. No adverse drug events were recorded. Treatment with IBAT inhibitor was effective and safe in our patient suggesting that Odevixibat may be potentially considered for the treatment of cholestatic pruritus also in children with rare subtypes of PFIC. Further studies on a larger scale could lead to the increasing of patients eligible for this treatment.

Fibrosis transmembrane conductance regulator (CFTR) modulators (CFTRms) have significantly improved outcomes in people with cystic fibrosis (CF). Real-world evidence, particularly from national and international CF registries, is essential to assess their long-term effectiveness and safety. We reviewed published studies using registry data to evaluate the impact of CFTRms on clinical outcomes in individuals with CF. A narrative review of studies published between 2015 and 2025 was conducted, focusing on registry-based evaluations of ivacaftor, lumacaftor/ivacaftor, tezacaftor/ivacaftor, and elexacaftor/tezacaftor/ivacaftor. Primary outcomes included lung function, pulmonary exacerbations, nutritional status, and survival. Fifty-seven registry-based studies confirmed the benefits of CFTRms across diverse CF populations. Ivacaftor has demonstrated sustained improvements in forced expiratory volume in one second (FEV₁), reduced exacerbations, and improved nutritional outcomes. Lumacaftor/ivacaftor and tezacaftor/ivacaftor have shown modest benefits, especially in homozygous F508del patients. The introduction of elexacaftor/tezacaftor/ivacaftor has led to unprecedented improvements in lung function and quality of life, along with a reduced need for lung transplantation. Methodological heterogeneity and incomplete data remain challenges. Registry data provide essential, complementary evidence to clinical trials and support the effectiveness of CFTRms in routine care. Continued efforts are needed to harmonize registry methodologies and outcome measures.

Coronavirus disease 2019 (COVID-19) restrictions have been correlated with vitamin D deficiency in children, but some uncertainties remain. We retrospectively studied vitamin 25-(OH) D blood levels in 2182 Italian children/adolescents hospitalized for various chronic diseases in the year before (n = 1052) and after (n = 1130) the nationwide lockdown. The type of underlying disease, gender, and mean age (91 ± 55 and 91 ± 61 months, respectively) of patients included in the two periods were comparable. Although mean levels were the same (p = 0.24), deficiency status affected a significantly higher number of subjects during the lockdown period than in the pre-COVID period (p = 0.03), particularly in summer (p = 0.02), and there was also a smoothing of seasonal variations in vitamin D levels. Particularly at risk were males (OR = 1.22; p = 0.03), the 1–5 year age group (OR = 1.57; p < 0.01) and the 6–12 year age group (OR = 1.30; p = 0.04). Infants appeared not to be affected (p = 1.00). In the post-COVID period, the risk of vitamin D deficiency was unchanged in disease-specific groups. However, the proportion of deficiency or severe deficiency differed significantly in the subgroup with endocrinopathy (higher; Chi-square p = 0.04), and with respiratory problems and obesity (lower; Chi-square p = 0.01 and p < 0.01, respectively). Conflicting/opposite literature results advocate for further studies to clearly indicate the need for supplementation during possible future periods of confinement.