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BackgroundIt has been estimated that 20% of the tests and therapies currently prescribed in North America are likely unnecessary, add no value, and may even cause harm. The Choosing Wisely (CW) campaign was launched in 2012 in the US and Canada to limit the overuse of medical procedures in adult and pediatric healthcare, to avoid overdiagnosis and overtreatment.MethodsIn this narrative review, we describe the birth and spread of the CW campaign all over the world, with emphasis on CW in pediatric healthcare.ResultsTo date, CW has spread to more than 25 countries and 80 organizations, with 700 recommendations published. The awareness of medication overuse also made its way into pediatrics. One year after the launch of the CW campaign, the American Academy of Pediatrics and the pediatric section of the Society of Hospital Medicine provided the first recommendations specifically aimed at pediatricians. Thereafter, many European pediatric societies also became active in the CW campaign and published specific top-5 recommendations, although there is not yet a common set of CW recommendations in Europe.DiscussionWe reviewed the main pediatric CW recommendations in medical and surgical fields and discussed how the recommendations have been produced, published, and disseminated. We also analyzed whether and how the CW recommendations impacted pediatric medical practice. Furthermore, we highlighted the common obstacles in applying CW recommendations, such as pressure from patients and families, diagnostic uncertainty, and worries about legal problems. Finally, we highlighted the necessity to foster the CW culture, develop an implementation plan, and measure the results in terms of overuse decline.

Netherton syndrome (NS) is a rare and potentially life-threatening genetic skin disease responsible for skin inflammation and scaling, hair abnormalities and severe allergic manifestations. NS is caused by loss-of-function variants in Serine Peptidase Inhibitor Kazal-Type 5 (SPINK5), encoding the serine protease inhibitor LEKTI. NS patients have a profound skin barrier defect caused by unopposed kallikrein-related proteases activity (KLKs). They develop severe skin inflammation with eczematous-like lesions and high serum IgE levels. Multiomics studies have revealed that the IL-17/IL-36 pathway is the most predominant upregulated pathway in NS. It is associated with a Th2 signature with complement activation in the ichthyosis linearis circumflexa subtype, and with interferon and Th9 activation in the scaly erythrodermic form. Several case reports proved the efficacy of different biotherapies targeting IL-17A, IL-12/IL-23, IL-4R and IL-13R, TNF-a and IL-1β in pediatric NS patients. Intravenous immunoglobulins (IVIG) have also shown efficacy. These studies showed no severe side effects. At present, IL-17 blockade seems to be the most efficient treatment, but case reports remain limited with small numbers of patients and no placebo-control. Additional pathways must also be explored, and more efficient strategies could be used to block IL-17 and IL-23 pathways. In the future, the combination of specific strategies aiming at repairing the initial skin barrier defect could potentiate the efficacy of biologics. The current reports suggest that biological therapy is safe and often effective at pediatric age. However, controlled clinical trials that include a larger number of patients need to be conducted to reach more reliable conclusions.

The limping child frequently represents a diagnostic challenge. The differential diagnosis is broad and should include vitamin C deficiency. Scurvy, resulting from vitamin C deficiency, is the oldest-known nutritional disorder. Despite its rarity in developed countries, scurvy has been increasingly reported in recent years in pediatric patients, particularly those with autism or neurological disabilities. In the present retrospective study, we describe the clinical, laboratory, and radiological features of 8 patients diagnosed with scurvy in the Pediatrics Unit of Meyer Children's University Hospital, between January 2016 and December 2021. The majority (87%) were males, and the median age was 3.7 years. Half of the patients had comorbidities known to be risk factors for scurvy, while the remaining patients were previously healthy. All the children were admitted for musculoskeletal symptoms, ranging from lower limb pain (87%) to overt limping (87%). Mucocutaneous involvement was observed in 75% cases. Microcytic anemia and elevated inflammatory markers were common laboratory findings. Bone radiographs, performed on all patients, were often interpreted as normal at first, with osteopenia (62%) as the most frequent finding; notably, after re-examination, they were reported as consistent with scurvy in four patients. The most common magnetic resonance imaging findings were multifocal symmetrical increased signal on STIR sequence within metaphysis, with varying degrees of bone marrow enhancement, adjacent periosteal elevation and soft tissue swelling. Differential diagnosis was challenging and frequently required invasive diagnostic procedures like bone marrow biopsy, performed in the first three patients of our series. The median time frame between clinical onset and the final diagnosis was 35 days. Notably, the interval times between admission and diagnosis become progressively shorter during the study period, ranging from 44 to 2 days. Treatment with oral vitamin C led to improvement/resolution of symptoms in all cases. In conclusion, scurvy should be considered in the differential diagnosis in a limping child, performing a detailed dietary history and careful physical examination, looking for mucocutaneous lesions. A quick and correct diagnostic path avoids invasive diagnostic procedures and reduces the risk of long-term complications.

A 12-year-old male patient suffering from congenital glaucoma developed bradycardia, left ventricular failure, and hypotension after induction of anesthesia. Electrocardiography and echocardiography revealed a complete normalization of ECG and a complete spontaneous recovery in the cardiac function 72 hours from the beginning of the clinical manifestations, while cardiac Magnetic Resonance Imaging was performed, and coronary Computed Tomography scan revealed a myocardial bridge of a tract of the left anterior descendent coronary artery. Diagnosis of Kounis syndrome (KS) was made, a relatively novel, under-recognized clinical condition, defined as the manifestation of an acute coronary syndrome accompanied by mast cell activation and platelet aggregation involving interrelated and interacting inflammatory cells in the setting of allergic, hypersensitivity, anaphylactic or anaphylactoid insults. We described one of the first pediatric cases of KS related to anesthetic medications. In children, this syndrome has been only described in isolated case reports or small case series. Thus, it appears critical to report new cases of KS in children to increase the awareness of this disease in pediatric healthcare workers so as to enhance its early recognition and optimal therapeutic strategy. Furthermore, it appears of paramount importance the implementation of universal guidelines accepted by allergology and cardiology societies, in order to standardize the management of pediatric and adult patients with KS. Finally, a close collaboration between pediatric allergists and cardiologists seems fundamental for an optimal multidisciplinary patient care.

This is the first case of NBAS disease detected by NBS for primary immunodeficiency. NBS with KRECs is revealing unknown potentialities detecting conditions that benefit from early recognition like NBAS deficiency. Immune phenotyping should be mandatory in patients with NBAS deficiency since they can exhibit severe immunodeficiency with hypogammaglobulinemia as the most frequent finding. Fever during infections is a known trigger of acute liver failure in this syndrome, so immune dysfunction, should never go unnoticed in NBAS deficiency in order to start adequate therapy and prophylaxis.

Summary Neonatal haemochromatosis is a rare alloimmune gestational disease with a high mortality. The hallmark of neonatal haemochromatosis is severe neonatal liver failure associated with extrahepatic siderosis. Thus far, no pituitary dysfunction has been reported to result from the tissue damage associated with extrahepatic siderosis. The present report describes a neonate with neonatal haemochromatosis and secondary hypothyroidism associated with pituitary iron deposition. Both the conditions were successfully treated by ABO-incompatible liver transplantation. Pituitary gland dysfunction is another possible extrahepatic manifestation of neonatal haemochromatosis, and it is reversible after liver transplantation.