Maria Cristina Maggio, Cinzia Castana, Marina Caserta, Antonella Di Fiore, Vittoria Siciliano, Giovanni Corsello
{"title":"MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literature.","authors":"Maria Cristina Maggio, Cinzia Castana, Marina Caserta, Antonella Di Fiore, Vittoria Siciliano, Giovanni Corsello","doi":"10.1186/s13052-025-02052-1","DOIUrl":"10.1186/s13052-025-02052-1","url":null,"abstract":"<p><strong>Background: </strong>Methylmalonic acidemia (MMA) secondary to mutase deficiency, mut0, is an inborn error of metabolism causing complete enzyme defect, allowing a high risk of irreversible complications, secondary to metabolic decompensation, induced by infections and the hyperinflammatory state. Multisystem Inflammatory Syndrome in Children (MIS-C) is a hyperinflammatory syndrome that manifests 14-60 days after the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in patients aged < 21 years. Only a few cases of patients with inherited metabolic diseases (IMD) and MIS-C are described. However, to our knowledge, this is the first case of MMA with MIS-C.</p><p><strong>Case presentation: </strong>We describe a 2-year-old child with MMA secondary to mutase deficiency, carrying the homozygous mutation c.2179 C > T of MMUT gene, associated to mut0 phenotype. One month after SARS-CoV-2 infection, he presented fever, rash, significant increase of C-reactive protein (CRP), ferritin, triglycerides, interleukin (IL)-6, N-terminal fragment of the pro brain natriuretic peptide (NT-pro-BNP), compatible with the diagnosis of MIS-C. He was treated with intravenous immunoglobulins and methylprednisolone, with rapid clinical improvement. Ten days later, he showed the worsening of clinical and hematological parameters, associated with anemia, thrombocytopenia, metabolic acidosis, hyperlactatemia, increased urinary methylmalonic acid, leading to multiorgan failure (MOF). He was treated with high caloric intake nutrition by intravenous carbohydrates infusion; sodium bicarbonate, thiamine, carnitine, coenzyme Q, vitamin C, antibiotics, methylprednisolone and anakinra. Three days after the start of anakinra, a significant improvement in clinical and biochemical parameters occurred. Twenty days later, a sepsis from Methicillin-resistant Staphylococcus Aureus and Candida Albicans required the interruption of anakinra, with the decline of the clinical conditions and the exitus.</p><p><strong>Conclusions: </strong>In patients with a severe form of MMA and MIS-C anakinra is a safe treatment. MOF and metabolic decompensation, secondary to the hyperinflammatory state typical of MIS-C, can be successfully treated with targeted therapy against proinflammatory cytokines. The description of these clinical cases is a precious lesson in managing IMD therapeutic emergencies. Paediatricians must provide a strict monitoring of metabolic compensation, to avoid irreversible complications.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"202"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rosa Perretta, Juan José Borraz Torca, Giuseppina De Luca, Marta Donà, Martina Gasparella, Elisa Rizzato, Nicola Bertazza Partigiani
{"title":"BM study: a monocentric prospective observational cohort study on neonatal humoral immunity against COVID-19 secondary to transplacental antibody transfer and breastfeeding.","authors":"Rosa Perretta, Juan José Borraz Torca, Giuseppina De Luca, Marta Donà, Martina Gasparella, Elisa Rizzato, Nicola Bertazza Partigiani","doi":"10.1186/s13052-025-02042-3","DOIUrl":"10.1186/s13052-025-02042-3","url":null,"abstract":"<p><strong>Background: </strong>The COVID-19 pandemic highlighted the vulnerability of pregnant women and newborns, emphasizing the importance of vaccination during pregnancy to protect mothers and their infants. Maternal vaccination generates robust anti-SARS-CoV-2 IgG antibodies, transferred to the fetus through the placenta, providing neonatal protection. Breastfeeding also transfers maternal antibodies (IgA and IgG), potentially enhancing mucosal immunity. This study aimed to evaluate neonatal antibody kinetics following maternal COVID-19 vaccination, comparing vaccinated naïve mothers to those previously infected.</p><p><strong>Methods: </strong>A monocentric prospective observational cohort study was conducted between July 2021 and July 2022, enrolling 44 mother-infant pairs at the Pediatrics Unit of Arzignano Cazzavillan Hospital. Eligible participants included mothers vaccinated during pregnancy (third trimester), either naïve or previously infected with SARS-CoV-2. Blood and breast milk samples were collected at birth and periodically up to six months postpartum. Neonatal cord blood and subsequent samples were analyzed for anti-SARS-CoV-2 spike (S1) IgG and IgA antibodies. Statistical analyses involved parametric and non-parametric tests, with significance set at p < 0.05.</p><p><strong>Results: </strong>Out of 44 enrolled pairs, 12 breastfeeding pairs (9 naïve and 3 previously infected mothers) and 3 formula-fed pairs completed the full protocol. At birth, neonates demonstrated significantly higher IgG levels than mothers, especially from naïve mothers, confirming efficient transplacental antibody transfer (p < 0.05). Breast milk from previously infected mothers contained significantly higher IgA levels than naïve mothers at all postpartum time points (p < 0.05), whereas IgG levels remained stable and similar between groups. Formula-fed infants exhibited a faster decline in serum IgG compared to breastfed infants.</p><p><strong>Conclusions: </strong>Maternal vaccination during pregnancy induced robust transplacental IgG transfer, providing neonatal protection from birth. Breastfeeding significantly maintained neonatal IgG levels and contributed additional IgA-mediated mucosal protection, particularly following maternal infection. Formula-fed infants experienced a more rapid antibody decline. Maternal COVID-19 vaccination effectively transfers protective antibodies transplacental and through breastfeeding, suggesting its importance in prenatal care strategies.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"203"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lei Peng, Min Shi, Qian Liu, Xiufang Fan, Juan Li, Xia Li
{"title":"Calcified necrotizing funisitis and its association with adverse neonatal outcomes: a case-control study.","authors":"Lei Peng, Min Shi, Qian Liu, Xiufang Fan, Juan Li, Xia Li","doi":"10.1186/s13052-025-02033-4","DOIUrl":"10.1186/s13052-025-02033-4","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"201"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12210475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Giovanni Corsello, Elisa Costantini, Marco Sciveres, Adele Figuccia, Maria Cristina Maggio
{"title":"Diffuse infantile hepatic haemangioma and consumptive hypothyroidism: a clinical case with anaemia that raises suspicion.","authors":"Giovanni Corsello, Elisa Costantini, Marco Sciveres, Adele Figuccia, Maria Cristina Maggio","doi":"10.1186/s13052-025-02027-2","DOIUrl":"10.1186/s13052-025-02027-2","url":null,"abstract":"<p><strong>Background: </strong>Infantile hepatic haemangiomas are benign liver tumours, with growth and regression phases of the tumour, corresponding to those of infantile cutaneous haemangiomas. The classification and the pathogenesis need further insights. Though most infantile hepatic haemangiomas are asymptomatic, some patients show severe complications, such as high-output congestive cardiac failure, anemia, thrombocytopenia, consumptive coagulopathy, liver failure and consumptive hypothyroidism. A fatal clinical evolution is described in some patients. The heterogeneity of the lesion's diffusion and of the disease-related comorbidities make the treatment challenging. The treatment with oral propranolol is effective and allows symptoms regression.</p><p><strong>Case presentation: </strong>We report the case of a two-month-old female with the first diagnosis of late-onset congenital hypothyroidism, associated to unexplained anemia and significant increase of transaminases and gamma-GT. She promptly started treatment with levothyroxine (10 mcg/kg/day). To identify the etiology of hypothyroidism, anemia and increased liver enzymes, she underwent an abdominal ultrasound, that evidenced infantile diffuse hepatic hemangiomatosis, confirmed by abdominal MRI. Brain MRI showed a few millimetric areoles, compatible with microangiomas. The patient needed a significant increase of levothyroxine dosage, reaching a difficult normalization of TSH, fT4 and fT3. Ten days after the start of treatment with propranolol, a significant reduction in liver hemangiomatosis occurred, confirmed by the reduction of alpha-fetoprotein, AST, ALT, gamma -GT and TSH levels. The patient required a progressive reduction of levothyroxine dose, with the improvement of hematologic parameters. The child's auxological growth and neuromotor development occurred in an age-appropriate manner.</p><p><strong>Conclusions: </strong>In the case described hereby, complications such as anemia, hypothyroidism, hepatomegaly, and impaired liver function, required to start therapy with propranolol, with the improvement of clinical and laboratory parameters. High-dose levothyroxine replacement therapy is mandatory to preserve the neurological development that occurs when hypothyroidism is inadequately treated throughout the proliferative phase of haemangiomas. In fact, the prognosis is strongly determined by the early identification of haemangiomatosis as the cause of hypothyroidism and of the other complications. Systemic impairment in early phases may be very subtle, requiring a prompt diagnosis and a multidisciplinary approach to undertake appropriate therapy and prevent short- and long-term sequelae.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"200"},"PeriodicalIF":3.2,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12211622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144540223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuehua Dong, Shaohua Pei, Zirao Yang, Yanyan Xue, He Wang
{"title":"A novel variant in NPR2: C.2291T > C (p.Leu764Pro) identified in a patient with acromesomelic dysplasia Maroteaux type.","authors":"Yuehua Dong, Shaohua Pei, Zirao Yang, Yanyan Xue, He Wang","doi":"10.1186/s13052-025-02050-3","DOIUrl":"10.1186/s13052-025-02050-3","url":null,"abstract":"<p><strong>Background: </strong>Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive skeletal dysplasia with an estimated prevalence of 1:1,000,000. It is characterized by extreme shortening of the forelimbs and disproportionate short stature.</p><p><strong>Case presentation: </strong>Here we present the clinical and genetic features of an 8-year-8-month-old boy exhibiting idiopathic short stature and abnormal changes of the appendicular skeleton and axial skeleton, consistent with the established phenotypic spectrum of AMDM. Using diagnostic exome sequencing, we identified two variants in NPR2: a known pathogenic nonsense variant, C.2965 C > T (p.Arg989*), and a missense variant of unknown significance, C.2291T > C (p.Leu764Pro), which has never been reported before. Sanger sequencing confirmed that the variants were inherited from his phenotypically normal parents. The proband is compound heterozygous, while both parents are heterozygous carriers, indicating an autosomal recessive pattern of inheritance.</p><p><strong>Conclusion: </strong>This study enriches the pathogenic gene mutation spectrum of NPR2 in patients with AMDM and further emphasizes the application of molecular genetic detection in the diagnosis of rare skeletal abnormalities.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"199"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12186393/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Irene Bettini, Giulia Poletti, Alessandro Rocca, Valeria Di Natale, Monia Gennari, Marcello Lanari, Andrea Pession, Alessandra Cassio
{"title":"Consumptive hypothyroidism complicating infantile hepatic hemangioma successfully treated with propranolol: a case report and literature review.","authors":"Irene Bettini, Giulia Poletti, Alessandro Rocca, Valeria Di Natale, Monia Gennari, Marcello Lanari, Andrea Pession, Alessandra Cassio","doi":"10.1186/s13052-025-02020-9","DOIUrl":"10.1186/s13052-025-02020-9","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"198"},"PeriodicalIF":3.2,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12186321/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144475158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gregorio Serra, Ettore Piro, Deborah Bacile, Laura Antonella Canduscio, Claudia Colomba, Mario Giuffrè, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello
{"title":"Congenital cytomegalovirus infection and brain injury in a newborn following maternal non-primary infection: case report of an unexpected diagnosis.","authors":"Gregorio Serra, Ettore Piro, Deborah Bacile, Laura Antonella Canduscio, Claudia Colomba, Mario Giuffrè, Sergio Salerno, Ingrid Anne Mandy Schierz, Giovanni Corsello","doi":"10.1186/s13052-025-02017-4","DOIUrl":"10.1186/s13052-025-02017-4","url":null,"abstract":"<p><strong>Background: </strong>Congenital cytomegalovirus (cCMV) infection leads to a significant burden on the health system. Relevant insights have been reached in the understanding of primary infection (PI) during pregnancy. However, knowledge gaps still exist related to maternal non-primary infections (NPI). Severe neurologic damage and hearing loss are the possible outcomes in the 17-20% of affected children. Furthermore, neither risk prevention strategies nor management are currently available for these NPI patients.</p><p><strong>Case presentation: </strong>We report on a male term newborn showing in the first days of life hyperexcitability, tremors and increased muscular tone, in addition to thrombocytopenia, initially related to an early-onset sepsis. Obstetric history revealed that the mother underwent steroid treatment during the whole first trimester of pregnancy. She had positive CMV IgG and negative CMV IgM antibodies throughout gestation. At 15 days of age, due to the persistence of neurological and hematological signs and abnormalities found on brain ultrasound (bilateral ventriculomegaly, and an anechoic lesion within the right caudothalamic grove at first related with grade I intraventricular hemorrhage) a brain magnetic resonance imaging (MRI) was performed, showing significant lesions highly suggestive of cCMV. Although such diagnostic hypothesis was unsuspected (in light of the association of clinical manifestations with perinatal sepsis and the misleading maternal serology), however CMV DNA detection on blood and urine was carried out, giving positive results in both samples for connatal infection diagnosis. Newborn CMV IgG and IgM antibodies resulted positive, while the IgG avidity test showed high values according to a likely early intrauterine infection. The antiviral therapy was therefore begun and continued for 6 months. He currently is 6 months old and included in a multidisciplinary follow-up. His growth is within the normal limits, but a neuromotor delay is present. Audiological and ophthalmological evaluations, laboratory as well as multiorgan ultrasound (US) examinations have not revealed further anomalies to date.</p><p><strong>Conclusions: </strong>Our case underlines that CMV reactivations or reinfections may be responsible, as well as PI, for significant and harmful effects on the fetus and newborn. It also shows the limited diagnostic and preventive/therapeutical weapons available against NPI during gestation. The present experience confirmed, indeed, the literature regarding the absence of valid laboratory test to identify women with preexisting immunity at risk of giving birth to an infected neonate. Women with previous immunity should be treated with precautionary protocols, including US monitoring and fetal MRI aimed at detecting cCMV. Brain MRI findings may be a pre-warning for newborns of mothers with previous immunity showing neurological symptoms and ultrasound abnormalities. In these cases, its execu","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"197"},"PeriodicalIF":3.2,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181892/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336579","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Chiara Monfredini, Francesco Cavallin, Paul Ouedraogo, Leila Ezzahraoui, Elisa Pasta, Daniele Trevisanuto, Paolo Ernesto Villani
{"title":"Intubating laryngeal airway vs. direct laryngoscope: a crossover randomized controlled neonatal manikin trial.","authors":"Chiara Monfredini, Francesco Cavallin, Paul Ouedraogo, Leila Ezzahraoui, Elisa Pasta, Daniele Trevisanuto, Paolo Ernesto Villani","doi":"10.1186/s13052-025-01988-8","DOIUrl":"10.1186/s13052-025-01988-8","url":null,"abstract":"<p><strong>Background: </strong>We aimed to compare endotracheal intubation through a laryngeal mask vs. using a direct laryngoscope in a manikin simulating a term infant.</p><p><strong>Methods: </strong>A randomized, controlled, crossover (AB/BA) trial of intubation through a laryngeal mask vs. a direct laryngoscope in a manikin simulating a term infant. Thirty-four tertiary neonatal intensive care unit consultants and pediatric residents who had previous experience with intubating laryngeal airway and direct laryngoscopy participated. The primary outcome measure was the success of the procedure at the first attempt. The secondary outcome measures included the total time of endotracheal tube positioning and participant's opinion on insertion difficulty and overall difficulty.</p><p><strong>Results: </strong>Success at first attempt was 34/34 with the laryngeal mask (100%) and 26/34 with the direct laryngoscope (76%) (difference in percentage 24%, 95% confidence interval 5-41%; p = 0.008). Median time of endotracheal tube positioning was 24 s (IQR 19-30) with both devices (p = 0.86). Insertion difficulty (p = 0.96) and overall difficulty (p = 0.99) were not statistically different between the devices.</p><p><strong>Conclusions: </strong>In a term infant manikin model, positioning the endotracheal tube through the laryngeal mask increased the success at the first attempt compared to direct laryngoscopy, without extending the duration of the procedure or affecting the perceived difficulty.</p><p><strong>Registration: </strong>clinicaltrial.gov NCT06263790. Registered 16 February 2024, https://clinicaltrials.gov/study/NCT06263790 .</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"196"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181870/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ran Hua, Junhong Jiang, Baotian Wang, Zihao Zhu, Juan Wang, De Wu, Li Yang
{"title":"Clinical and functional characterization of the GABRB3 p.Met80Val variant in early-onset epilepsy with long-term follow-up.","authors":"Ran Hua, Junhong Jiang, Baotian Wang, Zihao Zhu, Juan Wang, De Wu, Li Yang","doi":"10.1186/s13052-025-02046-z","DOIUrl":"10.1186/s13052-025-02046-z","url":null,"abstract":"<p><strong>Background: </strong>GABRB3 encodes the β3 subunit of the GABA<sub>A</sub> receptor, which is a crucial component in inhibitory neurotransmission within the central nervous system. GABRB3 variants are associated with developmental and epileptic encephalopathy 43. Noteworthy, GABRB3 variants can result in both gain-of-function and loss-of-function effects. However, their precise functional and clinical implications remain unknown.</p><p><strong>Methods: </strong>Whole-exome sequencing, validation of the identified GABRB3 variants using Sanger sequencing, and structural modeling were done to assess the potential impact of these variants on receptor function. Functional analyses included quantification of GABRB3 protein expression levels, subcellular localization using fluorescence microscopy, and electrophysiological recordings of α1β3γ2 and α1β3(M80V)γ2 receptor complexes to evaluate channel properties.</p><p><strong>Results: </strong>A heterozygous de novo GABRB3 variant (NM_000814.6: c.238 A > G, p.Met80Val) was identified in a 16-year-old female who developed absence seizures at one year and exhibited persistent EEG abnormalities over the subsequent decade. She exhibited mild intellectual disability, poor academic performance, and limited language skills but maintained school attendance and social engagement. Structural modeling suggested that the p.Met80Val variant compromises the structural integrity of the protein. Functional assays revealed a 2.6-fold increase in GABRB3 protein expression and enhanced fluorescence intensity, with most of the protein localized in the cytoplasm. Electrophysiological recordings demonstrated significantly increased current amplitude, heightened GABA sensitivity, and reduced zinc sensitivity. These findings indicated that the p.Met80Val variant altered the receptor conformation or its zinc-binding site, weakening zinc-mediated inhibition.</p><p><strong>Conclusion: </strong>This study reports the ninth case of a recurrent GABRB3 p.Met80 variant and highlights its potential as a hotspot missense variant. The findings underscore its pathogenicity after a long follow-up period of more than ten years supported by continuous EEG monitoring. These findings enhance our understanding of the functional changes among GABRB3 variants and their role in the pathogenesis of epilepsy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"195"},"PeriodicalIF":3.2,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144336578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Admission rate for bronchiolitis of newborns and infants in Italian neonatal intensive care units in 2021: a survey of the Italian Society of Neonatology - Intensive Care of Early Childhood Study Group.","authors":"Nunzia Decembrino, Roberta Leonardi, Tiziana Fedeli, Luana Conte, Chiara Distefano, Nicola Pozzi, Valeria Fichera, Ferdinando Spagnuolo, Camilla Gizzi, Fabio Mosca, Luigi Orfeo, Eloisa Gitto","doi":"10.1186/s13052-025-01977-x","DOIUrl":"10.1186/s13052-025-01977-x","url":null,"abstract":"<p><strong>Background: </strong>The shortage of Pediatric Intensive Care Unit (PICU) beds among some Italian regions is a major concern, especially during epidemics. During respiratory syncytial virus (RSV) bronchiolitis peak, Neonatal Intensive Care Units (NICU) often admit infants and toddlers requiring advanced respiratory support. We conducted a survey to quantify children hospitalized for RSV bronchiolitis in NICU in 2021 and to examine the adherence to treatment guidelines.</p><p><strong>Methods: </strong>Early Childhood Intensive Care Working Group of the Italian Society of Neonatology (SIN) conducted a survey distributed to SIN Network NICUs. The modified Delphi method was used to prepare the survey; duplicate responses were excluded. Analysis evaluated percentages.</p><p><strong>Results: </strong>Response rate was 67% (78/117 NICUs). Geographic distribution of responding centers was: 51% Southern-Islands, 38% North, 11% Center; 50% were Territorial Hospitals, 20% University Hospitals. Of respondents, 55% have 5-10 NICU beds; 70% routinely admit children > 44 weeks postconceptional age and > 28 days old, with a rate of < 10 toddlers/year in 50% of cases, 10-20 toddlers/year in 25% of cases and > 20 toddlers/year in 15%. In 2021, 40% of NICUs admitted < 10 bronchiolitis cases, 29% 11-20 cases. RSV was the leading cause of bronchiolitis. Reasons for NICU admission were respiratory distress syndrome (92%), feeding difficulties (58%), comorbidities (20%). High-flow oxygen (87%) and non-invasive ventilation (60%) were common respiratory supports provided; 10% of patients needed invasive ventilation. Treatment included inhaled steroids (46%), bronchodilators/systemic steroids (32%), antibiotics (40%); 60% of centers did not use sedation during NIV; 30% used midazolam, 13% dexmedetomidine, < 10% fentanyl.</p><p><strong>Conclusions: </strong>Our survey highlights that during the RSV epidemic, NICUs admitted toddlers to receive advanced respiratory support unavailable in pediatric ICUs. Most of the NICUs admitted fewer than 10 toddlers per year and less than 10 bronchiolitis, posing skill challenges for medical staff. This supports SIN's proposal to identify some \"extended NICUs\" in regions with limited PICU beds, to centralize toddlers after an adequate training to gain knowledge/technical skills specific of pediatric critical care. This would help to overcome the PICU beds storage. Adherence to bronchiolitis management guidelines resulted suboptimal, with frequent but unrecommended use of inhaled steroids, bronchodilators, and antibiotics.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"192"},"PeriodicalIF":3.2,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12175376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144316924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}