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Background: Epilepsy is a hallmark of IQSEC2-related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy., Patients and Methods: Data including demographic aspects, gene variants, seizure semiology and timing, EEG features, neuroimaging and response to therapy were retrospectively collected in patients with IQSEC2-related epilepsy referring to 8 Italian tertiary centres., Results: The reported cohort included 11 patients (8 males and 3 females). Mean age at the onset of epilepsy was 3.90±2.80 years. No cases were reported in the first year of life. No specific epileptic syndromes were recognized. Predominant seizure-types in the age range 12-36 months included focal onset tonic seizures with impaired awareness, myoclonic seizures, and late onset spasms. Generalized motor seizures were predominant in patients between 3 and 6 years and between 12 and 18 years while focal motor seizures with impaired awareness were the most represented types between 6 and 12 years. No patients experienced status epilepticus. EEG patterns included a delayed maturation of EEG organization, irregular focal or diffuse slow activity, multifocal or diffuse epileptiform abnormalities. No structural epileptogenic lesions were detected at MRI. Valproate, lamotrigine, clobazam, topiramate and levetiracetam were the most used antiseizure medication. Complete seizure freedom was achieved only in 2 patients., Conclusions: Onset of epilepsy after the first year of age, predominance of focal seizures with impaired awareness and generalized motor seizures, no pathognomonic underlying epileptic syndrome and infrequent occurrence of status epilepticus emerged as the main features of IQSEC2-related epilepsy phenotype., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

Psoriatic arthritis (PsA) patients are often treated by dermatology and rheumatology specialities and may receive different treatments. To evaluate the impact of dermatology/rheumatology specialist settings on diagnosis and therapeutic approach in PsA patients. This cross-sectional multicounty study in Italy involved twenty-eight rheumatology or dermatology clinics. Patients with suspected or confirmed PsA were examined by both a dermatologist and a rheumatologist. A total of 413 patients were enrolled and 347 (84%) were diagnosed with PsA. The majority of patients were enrolled from a rheumatology setting (N = 224, 64.6%). Patients with PsA in the dermatology settings had significantly higher disease activity, including skin involvement and musculoskeletal symptoms. Time from PsA onset to diagnosis was 22.3 ± 53.8 vs. 39.4 ± 77.5 months (p = 0.63) in rheumatology and dermatology settings; time from diagnosis to initiation of csDMARD was 7.3 ± 27.5 vs. 19.5 ± 50.6 months, respectively (p < 0.001). In contrast, time from diagnosis to bDMARD use was shorter in dermatology settings (54.9 ± 69 vs. 44.2 ± 65.6 months, p = 0.09, rheumatology vs. dermatology), similar to the time taken from first csDMARDs and bDMARDs (48.7 ± 67.9 vs. 35.3 ± 51.9 months, p = 0.34). The choice to visit a rheumatologist over a dermatologist was positively associated with female gender and swollen joints and negatively associated with delay in time from musculoskeletal symptom onset to PsA diagnosis. This study highlights a diagnostic delay emerging from both settings with significantly different therapeutic approaches. Our data reinforce the importance of implementing efficient strategies to improve early identification of PsA that can benefit from the integrated management of PsA patients. Key Points • A diagnostic delay was observed from both dermatology and rheumatology settings with significantly different therapeutic approaches. • Shared dermatology and rheumatology clinics offer the combined expertise to improve in the early identification and management of PsA.

Background: Bronchopulmonary dysplasia (BPD) continues to represent a significant cause of morbidity among survivors of severe prematurity in the NICU. The increasing prevalence of BPD over the decades has been suggested to be related to the increased survival of extremely low birthweight infants., Aims: To evaluate differences in prevalence of BPD (BPD28d and BPD36wk) and as a function of survival rate in extremely low birth weight (ELBW) infants over time, and to explore its relationship with known associated risk factors., Methods: Survival rate and prevalence of oxygen-dependency =28 days (BPD28d) and oxygen-dependency =36 weeks postmenstrual age (BPD36wk) were evaluated in ELBW newborns (mean gestational age: 27.12.2 weeks; mean birth weight: 817142 g) consecutively admitted to the Brindisi NICU over the last 26 years. Two arbitrarily chosen time periods were compared: Period 1: July 1st, 1986 to June 30, 2002 vs. Period 2: July 1st, 2002 to December 31, 2012. Analyzed variables included gestational age, birth weight, intubation time, hours of O2 administration, NCPAP, and use of surfactant. Differences between the time periods were assessed by chi-square statistics, Fisher's tests or Mann-Whitney test, as appropriate. A two-tailed p value <0.05 was considered to indicate statistical significance., Results: Survival rate of ELBW infants over the examined time periods dramatically improved from 42.3% to 72.6% (p < 0.0001), whereas changes in the prevalence of BPD28d and BPD36wk were not statistically significant (30.5% vs. 39.3%, p = 0.2137 and 5.5% vs. 13.1%, p = 0.1452, respectively). Likewise, BPD severity was not significantly different between the two time periods (p = 0.1635). Gestational age and birth weight of surviving neonates did not significantly change between the two time periods (p = 0.8050 and p = 0.6986, respectively), whereas significantly increased intubation time (median values: 144 hours vs. 33 hours, p <0.0001) and use of exogenous surfactant (89.3% vs. 48.6%, p < 0.0001) was evidenced for the second time period, as well as NCPAP (median values: 600 hours vs. 377 hours, p = 0.0005). A statistically non-significant trend for a prolonged O2 administration in period 2 (p = 0.0850) was also observed., Conclusion: Our findings indicate that a significantly increased survival is not necessarily associated with a significant difference in the prevalence of BPD among ELBW infants., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Background: Nosocomial infections are still a major cause of morbidity and mortality among neonates admitted to neonatal intensive care units (NICUs)., Objective: To describe the epidemiology of nosocomial infections in NICUs and to assess the risk of nosocomial infection related to the therapeutic procedures performed and to the clinical characteristics of the neonates at birth and at admission to the NICU, taking into account the time between the exposure and the onset of infection., Design: A multicenter, prospective cohort study., Patients and Setting: A total of 1,692 neonates admitted to 6 NICUs in Italy were observed and monitored for the development of nosocomial infection during their hospital stay., Methods: Data were collected on the clinical characteristics of the neonates admitted to the NICUs, their therapeutic interventions and treatments, their infections, and their mortality rate. The cumulative probability of having at least 1 infection and the cumulative probability of having at least 1 infection or dying were estimated. The hazard ratio (HR) for the first infection and the HR for the first infection or death were also estimated., Results: A total of 255 episodes of nosocomial infection were diagnosed in 217 neonates, yielding an incidence density of 6.9 episodes per 1,000 patient-days. The risk factors related to nosocomial infection in very-low-birth-weight neonates were receipt of continuous positive airway pressure (HR, 3.8 [95% confidence interval {CI}, 1.7-8.1]), a Clinical Risk Index for Babies score of 4 or greater (HR, 2.2 [95% CI, 1.4-3.4]), and a gestational age of less than 28 weeks (HR, 2.1 [95% CI, 1.2-3.8]). Among heavier neonates, the risk factors for nosocomial infection were receipt of parenteral nutrition (HR, 8.1 [95% CI, 3.2-20.5]) and presence of malformations (HR, 2.3 [95% CI, 1.5-3.5])., Conclusions: Patterns of risk factors for nosocomial infection differ between very-low-birth-weight neonates and heavier neonates. Therapeutic procedures appear to be strong determinants of nosocomial infection in both groups of neonates, after controlling for clinical characteristics.

Background: Phthalates, reproductive toxicants in animals, are synthetic chemicals with ubiquitous human exposures because of their extensive use, with potential detrimental health effects. Infants are considered to represent a population at increased risk, as they are exposed early in life to several different sources of exposure to phthalates., Objectives and Methods: Little information exists on phthalate exposure through breast milk from different geographic areas. By means of a LC/LC-MS/MS method we tested the presence of several different phthalate metabolites in breast milk from 62 healthy mothers living in Southern Italy., Results: The simple monoesters mono-isobutyl phthalate (MiBP) (median 18.8 microg/l) and mono(2-ethylhexyl) phthalate (MEHP) (median 8.4 microg/l) were present in all milk samples, whereas mono-n-butyl phthalate (MnBP) (median 1.5 microg/l) and mono-benzyl phthalate (MBzP) (median <0.3 microg/l) were found in 64.5% and 43.5% of the samples, respectively. Among the oxidative metabolites of DEHP and DiNP only mono(2-ethyl-5-carboxypentyl) phthalate (5cx-MEPP) and monoisononyl phthalate with one hydroxyl group (OH-MiNP) were detectable in one and 13 samples (21%), respectively., Conclusions: These findings indicate that exposure to phthalates through breast milk in Southern Italian infants is comparable to that of other countries, thus confirming that human milk may represent an additional potential source of phthalate exposure in a population at increased risk. However, different milk concentrations of MiBP may suggest a different pattern of usage of di-iso-butyl phthalate in Europe, as compared to USA, whereas for the first time, we detected an oxidative DiNP metabolite, whose significance remains unclear.

Objective: Evidence suggests increased morbidity, in particular early neonatal respiratory complications, in newborns from elective cesarean section compared with those from vaginal delivery. No reliable maternal predictors of adverse neonatal outcome at elective cesarean section are known. Here, we prospectively tested the hypothesis that a low maternal perfusion index at the baseline phase (i.e., preanesthesia) of the elective cesarean section is a predictor of early adverse neonatal respiratory outcome., Design: Prospective cohort study., Setting: Operating and delivery rooms of a public health hospital with a tertiary-level neonatal intensive care unit., Patients: Forty-four healthy pregnant women with no known risk factors undergoing elective cesarean section at term gestation., Interventions: Elective cesarean section was divided into nine phases. Analysis of pulse oximetry-derived signals (perfusion index, pulse rate, and oximetry) and systolic, diastolic, and differential blood pressure were recorded. Maternal arterial and venous newborn cord blood gas analyses and placental histology were evaluated., Measurements and Main Results: Early respiratory complications (transient tachypnea of the newborn, n = 5; respiratory distress syndrome, n = 1) were observed in 13.6% (6 of 44) of the newborns. A maternal perfusion index < or = 1.9 (lower quartile) during the preanesthesia phase of the elective cesarean section was an independent predictor of early adverse neonatal respiratory outcome (odds ratio 68.0, 95% confidence interval 6.02-767.72; p < .0001)., Conclusions: A decreased perfusion index value in the preanesthesia phase of elective cesarean section is a maternal predictor of increased neonatal morbidity and is significantly related to subclinical placental inflammatory disease. These observations suggest the feasibility of a noninvasive pulse oximeter prenatal screening of the high-risk fetus/newborn in elective cesarean section.

Background: Hearing loss (HL) is likely to be the most common congenital abnormality in humans, with a reported prevalence of 1 to 3 per 1000 live births. Early detection and intervention is critical to prevent the adverse consequences of a delayed diagnosis on speech, language and cognitive development. As 33-50% of all congenital HLs cannot be detected in a selective hearing risk, use of universal neonatal hearing screening (UNHS) programs is expanding., Aims: We tested the value of a UNHS protocol, based on a two-stage strategy of Transient Evoked Otoacoustic Emissions (TEOAEs) in all infants, followed by diagnostic auditory brainstem response (ABR) testing in those infants who did not meet TEOAE pass criteria and those infants at high risk for hearing loss., Methods: TEOAES (292 DP Echoport OAE Analyzer) served as the initial screen, followed by diagnostic ABR (Amplaid MK12) in newborns that did not meet pass criteria for TEOAEs. Additionally, all infants at high audiologic risk according to the Joint Committee on Infant Hearing received a diagnostic ABR evaluation. Of 21,125 total live births, 19,700 were tested (April 1, 1998-July 31, 2006). Accuracy of the UNHS strategy in predicting congenital HL was evaluated by calculating sensitivity, specificity, positive predictive value and negative predictive value., Results: Prevalence for all HLs in the neonatal period was 1.78/1000 l.b. (35/19,700), with bilateral HL in 1.42/1000 l.b. (28/19,700) [low risk rate: 0.43/1000 l.b. (8/18,356); high risk infants rate: 14.88/1000 l.b. (20/1344)]. All the HL infants were diagnosed <3 and received intervention <6 months age. ROC curves results showed 100% sensitivity (95% C.I.: 89.0-100) and 99.3% specificity (95% C.I.: 99.2-99.4) of the two-stage strategy in detecting congenital HLs [area under the ROC curve: 0.997 (95% C.I.: 0.995-0.997)]., Conclusions: (1) The epidemiology of congenital HLs widely justifies UNHS; (2) a two-stage TEOAE and diagnostic ABR screening for congenital HL is feasible, minimally invasive and accurate in the early detection of congenital HL; and (3) a congenital HL screening strategy based exclusively on the use of TEOAEs should always consider the possibility of false negative cases.

Aims: Critical congenital cardiovascular malformations (CCVMs) require surgical correction during the first month of life, physical examination is unable to detect >50% of affected infants. An oximetry screening has been previously proposed. Our aim was to verify the usefulness and consistency of a pulse oximetry screening for early detection of CCVMs in a small size nursery., Methods: A single determination of SpO2 was performed on 5292 consecutive apparently healthy newborns, discharged from nursery at a median age of 72 h during the period May 1, 2000 and November 30, 2004. Infants showing signs of congenital heart disease before the screening and those with a prenatal diagnosis were excluded. Cardiac ultrasound was performed on all infants with SpO2< or =95% at >24 h. The accuracy of the screening in identifying CCVMs was assessed by receiver-operating characteristic (ROC) curves analysis., Results: We found 2 (0.038%) true positives, 1 (0.019%) false negative, 1 (0.019%) false positive, and 5288 (99.92%) true negatives. Prevalence of critical CCVMs was 1 in 1764. Clinical follow-up showed no evidence of CCVMs in the negative cases. A pulse-oximetry cut-off value of < or =95% showed 66.7% sensitivity (95% CI: 11.6-94.5), 100% specificity (95% CI: 99.9-100.0), 50% positive predictive value, 100% negative predictive value and AUC of 0.833 (standard error: 0.145) (95% CI: 0.823 to 0.843) in identifying CCVMs., Conclusions: Our findings indicate that pulse oximetry is a non-invasive and specific screening tool for an early detection of CCVMs, and is easily applicable to a small size nursery.

Background: Psoriasis is a common, chronic, cell-mediated, inflammatory skin disease. Treatment limitations and a developing understanding of its pathogenesis on a molecular level have encouraged much interest in the field of immunomodulatory therapy., Objective: To evaluate the efficacy and safety of fumaric acid esters, in particular dimethylfumarate (DMF), in the treatment of moderate to severe plaque psoriasis intolerant and/or resistant to other conventional systemic therapies., Methods: A total of 40 patients were enrolled in this study. DMF was orally administered at the daily dose of 30 mg up to 360 mg for a minimum of 6 months treatment. Patients were followed-up with psoriasis area and severity index (PASI) score assessment, and clinical and photographic documentation., Results: A total of 33 (82.5%) patients achieved complete clinical remission with DMF treatment: eight after 3 months and 25 after 6 months. Adverse events, such as intolerable abdominal cramps and incoercible diarrhoea, occurred in four patients who, for this reason, interrupted therapy., Conclusion: The findings suggest that DMF is a safe, effective and well-tolerated long-term oral treatment worthy of consideration for selective patients.

Plasma lipids and apoprotein A and B levels were measured in 63 children, of both sexes, in the age range 11-14 years. The children have been subjected to a blood drawing after a 12 hour fast at least. Statistical analysis proves that total cholesterol (TC) is positively correlated with triglycerides (TG), HDL cholesterol (HDL) with apolipoproteins A (Apo A), apolipoproteins A (Apo A) with apoproteins B (Apo B). In the end we confirm the utility of determining plasma lipids and apoproteins to estimate lipidic risk for atherosclerosis in pediatric age.