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Background Norwegian scabies is a rare dermatological manifestation that usually affects the most fragile populations, such Pres  as elderly and immunocompromised patients, and its diagnosis is quite complex, due to its low prevalence in the general population and because of a broad spectrum manifestation. 

Case Preentation Here we describe a rare case of Norwegian scabies that was previously misdiagnosed in a sixteen year old patient affected by Down syndrome and we conducted a non-systematic literature review about this topic. Lesions were atypical, pruritic and associated with periodic desquamation of the palms and soles and after a series of specialist evaluations, she finally underwent topical treatment with complete remission. 

Conclusion It is therefore crucial to take in consideration the relation between Down syndrome and community acquired crusted scabies, to enable preventative measures, early detection, and proper treatment. 

Keywords Scabies, Children, Norwegian scabies, Down syndrome, Immunodepression

Background Patent foramen ovale (PFO) is associated with transient ischemia attack (TIA) or stroke, paradoxical embolism, and migraines. PFO closure decreases the recurrent incidence of cerebral ischemic events and reduces the incidence of syncope in adults. However, whether PFO is associated with syncope in pediatric patients has not been investigated. 

Methods 1001 pediatric patients (aged 4 to 17 years, mean age 10.31 ± 2.61 years, 519 males) who complained of unexplained syncope, palpitation, headache, dizziness and chest pain and were hospitalized in the Syncope Ward, The Second Xiangya Hospital, Central South University between January 2013 and April 2022 were recruited. Children with definite etiology of syncope, neurological, cardiogenic, psychological and other system diseases were excluded. PFO was measured by transthoracic echocardiography and right-heart contrast echocardiography was performed to identify the presence of right-to-left shunting. The demographic data and medical records were retrospectively reviewed and analyzed. 

Results 276 cases were included in the simple syncope group, 379 cases in the headache/dizziness group, 265 cases in the chest pain group, and 81 cases in the palpitation group. The incidence of PFO between the four groups was insignificant (4.71%, 4.74%, 4.15%, 6.17%, respectively, P = 0.903). Multivariate Logistic regression demonstrated that PFO is not associated with the increased risk of syncope (P = 0.081). 

Conclusion PFO may not increase the risk of syncope in pediatric patients. Further study may include a large and multicenter sample to investigate the association between PFO and unexplained syncope. 

Keywords Patent foramen ovale, Unexplained syncope, Pediatric patients, Echocardiography

Methods A single-center study was conducted at CF Unit of Bambino Gesù Children’s Hospital among hospitalized > 3 years patients for pulmonary exacerbations and treated with antibiotic IV treatment for 14 days. MBW and spirometry were evaluated within 72 h of admission to hospital and at the end of hospitalization. Descriptive analysis was conducted and correlations between quantitative variables were investigated. 

Results Fifty-seven patients (M22/F35) with an average age 18.56 (± 8.54) years were enrolled. LCI2.5 was significantly reduced at the end of antibiotic treatment in both pediatric and adult populations with an average reduction of -6,99%; 37/57 patients denoted an improvement, 20/57 are stable or worsened in LCI2.5 values and 4/57 (7.02%) had a significant deterioration (> 15%) at end of treatment. On the contrary a significative elevation of FEV1 and FVC were found, respectively of + 7,30% and of + 5,46%. A positive good correlection among LCI 2.5 and Scond (rho = + 0,615, p = 0.000) and LCI 2.5 and Sacin (rho = + 0,649, p = 0.000) and a negative strong correlation between FEV1 and LCI 2.5 were found in post treatment period. A similar modification of LCI 2.5 and FEV1 was noticed in both adult and pediatric population. 

Conclusions LCI may have a role in the routine clinical care of both adult and pediatric CF patients as a good tool to assess response to IV antibiotic end-therapy in the same way as FEV1. 

Keywords Cystic fibrosis, Lung clearance index, Multiple breath washout, Spirometry pulmonary exacerbation,

Background Breath holding spells (BHS) are an important non-epileptic condition that is common in childhood and causes concern to families. YouTube is a powerful social media tool for accessing diseases and information such as BHS in child health. The aim of the study was to measure of the quality and reliability levels of the videos published in English on BHS uploaded on YouTube. 

Methods The key words “infant”, “cry”, “breath holding spells”, holding spells” and “breath spells” were searched on the YouTube on November 14, 2022, in this study. Along with the general features of the videos, their quality and reliability were evaluated according to the global quality score (GQS), mDISCERN score. Results Fifty-five videos were evaluated. The mDISCERN and GQS scores of the videos in the useful group were higher than those in the misleading group (p< 0.001, p < 0.001). In the useful group, 87.5% of academic institutions and 93.3% of medical doctors (MDs) uploaded high-score GQS videos, while this rate was 16.7% in independent users (p = 0.005). The positive correlation was found between mDISCERN and GQS scores (p < 0.001). 

Conclusion The majority of YouTube videos on BHS contained useful information with sufficient quality. Professional associations such as universities and academic institutes need to produce better quality videos to provide families/ users with more accurate and up-to-date information about BHS. We emphasize that YouTube should analyse videos published in the field of health, especially in the field of pediatrics, such as BHS, with committees consisting of expert health professionals, and publish them after evaluation. YouTube should consider collaborating with professional pediatrics health organizations such as American Academy of Pediatrics (AAP), academic institutes and universities in the field of BHS to produce high-quality videos. 

Keywords YouTube, Breath holding spells, Cry, Infant, Children

Methods This study evaluated the effect of the osteopathic approach using myofascial release on 26 infants with ineffective sucking ability, identified by the POFRAS scale and LATCH score, compared with 26 untreated similar infants. After the procedure was initially performed in the hospital, the strategy based on basic neuromotor patterns was taught to the parents to be continued at home. The effects were measured at hospital discharge, during the first outpatient visit, which occurred after about seven days, and at one month of life. 

Results The number of valid and continuous suctions, initially less than five per feed in both groups, at the first outpatient check-up was significantly higher (p < 0.00001) in the treated group. Exclusive breastfeeding, initially present in all enrolled children, was maintained mainly in treated children, both at discharge (p < 0.003), at outpatient follow-up (p < 0.00001), and at one month of life (p < 0.00001). Differences in growth and health conditions were not found between the groups. 

Conclusion We believe that osteopathic treatment associated with neuromotor facilitation techniques can optimize newborns’ sucking skills, improving the acquisition and duration of breastfeeding. 

Keywords Manual assessment, Neonate, Breastfeeding, Myofascial release, Sucking-swallowing, Osteopathy

Methods This retrospective case-control study included neonates with a gestational age (GA) < 29 weeks. Participants were divided into two groups: treated retinopathy and untreated/no retinopathy. Time-weighted average FiO2 (TWAFiO2) and weekly invasive ventilation were compared between groups by postnatal age (PNA) and postmenstrual age (PMA). The association of treated retinopathy with TWAFiO2 and invasive ventilation was analyzed. 

Results Data from 287 neonates were analyzed; 98 were treated for ROP and had lower GAs (25.5 vs. 27.4 weeks, p < 0.01) and lower birthweights (747.6 vs. 1014 g, p < 0.001) than those with untreated/no ROP. TWAFiO2 was higher from PMA 26–34 weeks, except for PMA 31 weeks in treated ROP, and higher in the first nine weeks of life in treated ROP. On multiple logistic regression, TWAFiO2 and invasive ventilation were associated with ROP treatment during the first seven weeks PNA. Invasive ventilation was associated with ROP treatment from PMA 26–31 weeks; no association was found for TWAFiO 2 and PMA. 

Conclusions Amount of oxygen supplementation and/or invasive ventilation during the first 7 weeks of life or up to 31 weeks PMA was associated with development of severe ROP. This period might be candidate timing for strict oxygen supplementation strategies in preterm infants, while concerns of mortality with low oxygen supplementation should be further explored. 

Keywords Retinopathy of Prematurity, Preterm infants, Hyperoxia, Invasive ventilation

Case presentation We describe the case of a girl affected by Kearns-Sayre disease with severe renal tubular acidosis. The management of her metabolic acidosis was challenging because she showed persistent low levels of serum bicarbonates despite a progressive incrementation of oral bicarbonates. Furthermore, as a result to the ingestion of large amounts of alkali, the girl developed an aversion to oral supplementation. After positioning a percutaneous gastrostomy (PEG) and starting enteral administration of bicarbonates (with daily boluses and continuous nocturnal infusion), she finally obtained an adequate electrolyte control, with a significant increase in her quality of life. 

Conclusions In MDs, the combination of nocturnal continuous enteral administration of alkali plus diurnal boluses may represent a valid solution to correct metabolic acidosis. It can also result in an improved patients’ quality of life, particularly in pediatric settings, where compliance to oral therapy is often lacking due to the large and repeated amounts of unpalatable bicarbonates solutions required. 

Keywords Kearns-Sayre disease, Proximal renal tubular acidosis, Alkali therapy, Percutaneous endoscopic gastrostomy

Case presentation This case report presents a 5-year-old girl with CVI secondary to hypoxic-ischemic injury, resulting in visual impairment, dyspraxia, and abnormal visual evoked potential testing. The girl did not suffer from amblyopia, there was no evidence of relevant refractive errors or strabismus, so visual pathway damage was the cause of her visual deficit. Nevertheless, the patient underwent anti-amblyopia therapy and showed significant improvement in visual acuity after 12 months of treatment. The improvement, resulting from visual stimulation, was due to a good functional recovery by a better usage of the damaged visual pathways. The therapy included prescribing corrective glasses and implementing secondary occlusion of the better eye for 4 months, which was protracted for another 4 months, leading to further improvements in visual acuity. 

Conclusions The case report shows that addressing even minor refractive errors and implementing anti-amblyopia therapy can significantly improve vision in children with CVI, even without co-existing amblyopia. It also highlights the importance of early intervention and multidisciplinary rehabilitation in children with CVI, focusing on motor and cognitive skills. Additionally, it emphasizes the need for further research to establish evidence-based practice standards for improving vision in children with CVI. 

Keywords Cortical visual impairment, Anti-amblyopia therapy, Hypoxic-ischemic injury, Multidisciplinary rehabilitation, Developmental approach

Methods We retrospectively analyzed X-ALD patients admitted to our hospital. Clinical features, laboratory test results, and imaging data were collected. Whole-exome sequencing was used in molecular genetics. 

Results Two patients were included in this study. Both of them had significantly increased adrenocorticotropic hormone level and skin and mucosal pigmentation. They were initially clinically diagnosed with Addison’s disease and received hydrocortisone treatment. However, both patients developed progressive neurological symptoms following infectious disease. Further brain magnetic resonance imaging was completed, and the results suggested demyelinating lesions. Molecular genetics suggested variations in the ABCD1 gene, which were c.109_110insGCCA (p.C39Pfs*156), c.1394–2 A > C (NM_000033), respectively. Therefore, the two patients were finally diagnosed with X-ALD, whose classification had progressed from X-ALD (Addison’s-only) to childhood cerebral adrenoleukodystrophy (CCALD). Moreover, the infection exacerbates the demyelinating lesions and accelerates the onset of neurological symptoms. Neither the two variation sites in this study had been previously reported, which extends the ABCD1 variation spectrum. 

Conclusions Patients with only symptoms of adrenal insufficiency cannot be simply clinically diagnosed with Addison’s disease. Being alert to the possibility of ABCD1 variation is necessary, and complete genetic testing is needed as soon as possible to identify X-ALD (Addison’s-only) early to achieve regular monitoring of the disease and receive treatment early. In addition, infection, as a hit factor, may aggravate demyelinating lesions of CCALD. Thus, patients should be protected from external environmental factors to delay the progression of cerebral adrenoleukodystrophy. 

Keywords ABCD1, Addison, Adrenoleukodystrophy, Hit, Infection

Main Body The Italian National Association of Pediatric Residents (“Osservatorio Nazionale Specializzandi in Pediatria”, ONSP) conducted an extensive survey among pediatric residents to assess the current state of pediatric residency. Key findings indicate that 50% of respondents believe the number of residents is excessive for the available training opportunities, leading to concerns about the quality of education and hands-on experience. Despite the increased number of residents, the workload has increased, but up to one-third of residents feel that the autonomy provided by their programs is insufficient. Significant disparities in training quality were found across different regions, with notable shortages in neonatology and pediatric emergency departments. Research opportunities are also limited, with only 17% of residents finding the time allocated to research satisfactory, especially in central and southern Italy. 

Conclusion The increase in pediatric residents presents both challenges and opportunities. Addressing these challenges through strategic reforms, such as implementing standardized national curricula, investing in training resources and mobility programs, and enhancing research opportunities, is crucial for the future of pediatric residency in Italy. Ensuring high-quality training for all residents is an ethical and practical obligation that will significantly impact pediatric healthcare. 

Keywords Pediatric residency, Training disparities, Clinical autonomy, Research, Future Healthcare

Methods The study included 234 newborns diagnosed with NRDS from January 2019 to August 2023. This study employed two methods of grouping: the first based on platelet count, dividing participants into thrombocytopenia (platelet count < 150 × 109/L, n = 50) and non-thrombocytopenia groups (platelet count ≥ 150 × 109/L, n = 184), and the second based on the severity of NRDS, categorizing them into severe (n = 24) and mild-moderate (n = 210) groups. Within the first grouping method, the thrombocytopenia group was further subdivided into moderate-severe group (platelet count < 100 × 109/L, n = 4) and mild group (platelet count was between 100.0 × 109/L and 150.0 × 109/L, n = 46). This study aimed to analyze the clinical characteristics of NRDS with thrombocytopenia, explore the correlation between platelet count and clinical indicators of NRDS. Binary Logistic regression analysis was employed to identify independent risk factors for thrombocytopenia in NRDS. 

Results A higher proportion of newborns in the severe group exhibited thrombocytopenia (severe group = 41.7%, mild-moderate group = 19.0%). Hospital stay, ventilation time, oxygen therapy duration were longer in the thrombocytopenia group compared to the non-thrombocytopenia group. Hospital stay, ventilation time, oxygen therapy duration, chest radiography score, and C-reactive protein (CRP) levels were inversely associated with platelet count. Conversely, Apgar scores at 1 and 5 min, gestational age, and birth weight showed positive correlations with platelet count. Point-biserail correlation showed that thrombocytopenia was more likely to occur in newborns

Conclusion NRDS accompanied by thrombocytopenia indicates a more severe condition and poorer clinical outcomes. It is hypothesized that NRDS with thrombocytopenia involves a complex multifactorial etiology, including severe lung inflammation.

Methods This retrospective, nationwide study included nine patients with LC‑FAOD who switched from standard therapy with MCT oil to triheptanoin oral liquid. Data were collected between 2018 and 2022. Clinical outcome measures were the number and duration of intercurrent catabolic episodes and number and duration of metabolic decompensation episodes requiring hospitalisation. Creatine kinase (CK) levels and treatment‑related adverse effects were also reported.

Conclusions The significant improvement in clinical outcome measures after the administration of triheptanoin highlights that this treatment approach can be more effective than MCT supplementation in patients with LC‑FAOD. Triheptanoin was well tolerated and decreased the number of intercurrent catabolic episodes, metabolic decompensation episodes requiring hospitalisation, and the annualised rate and duration of hospitalisations.

Background The neonatal outcomes across different percentiles of birth weight for gestational age are still unclear. 

Methods This retrospective cohort study was conducted within 57 tertiary hospitals participating in the Chinese Neonatal Network (CHNN) from 25 provinces throughout China. Infants with gestational age (GA) 24+0-31+6 weeks who were admitted within 7 days after birth were included. The composite outcome was defined as mortality or any one of neonatal major morbidities, including necrotizing enterocolitis (NEC), bronchopulmonary dysplasia (BPD), severe intraventricular hemorrhage (IVH), cystic periventricular leukomalacia (cPVL), severe retinopathy of prematurity (ROP), and sepsis. Multivariable logistic regressions using generalized estimating equation approach were conducted.