Early and Long-Term Results of Stent Implantation for Aortic Coarctation in Pediatric Patients Compared to Adolescents: A Single Center Experience

Background. Stents have become the treatment of choice for native aortic coarctation in adults and adolescents, but in pediatric patients insufficient data are currently available to identify the best therapeutic option. Methods. To compare the outcomes of pediatric and adolescent patients, we retrospectively evaluated early and long-term results of stenting for aortic coarctation in 34 patients divided into 2 groups (A and B) composed, respectively, of 17 children (mean age 8.2±2.3, weight ≤30 kg) and 17 adolescents (mean age 14.3±1.7, weight >30 kg). Results. No significant differences in outcome were found between groups immediately after the procedure. In all of our patients, peak systolic gradient pressure significantly decreased after stenting from 43.7±12 to 1.7±3.1 mmHg in group A and from 39.4±16.8 to 1.6±3 in group B (p<0.0001). We observed early and late adverse events in both groups: early femoral vessel injury or thrombosis was more frequent in younger patients, as well as restenosis due to vessel growth requiring stent redilatations, often complicated by stent fractures. Data from long-term follow-up showed that, in younger patients, stress-related hypertension was more frequent. Conclusions. The procedure was immediately safe and effective in both groups. Pediatric patients must be accurately selected before stenting because they could probably need reinterventions and stents could impact on their future therapeutic perspectives

Etanercept as Treatment of Steroid-Refractory Acute Graft-versus-Host Disease in Pediatric Patients

ABSTRACT Corticosteroids are the standard of care for first-line treatment of patients who develop grade II-IV of acute graft-versus-host disease (aGVHD), but the optimal second-line treatment has not yet been determined. We prospectively evaluated the use of the anti-TNFα monoclonal antibody etanercept (ET) as second-line treatment in children with steroid-refractory (SR) aGVHD. Twenty-five children with either malignant or nonmalignant diseases experiencing grade II-IV SR aGVHD received ET as second-line treatment. ET was administered after a median of 14days (range, 5 to 135 days) from the onset of aGVHD. Seventeen out of 25 patients (68%) developed a complete response (CR) or partial response (PR) to ET. The overall response rate (CR plus PR) was 78% in patients with cutaneous SR aGVHD, 78% in those with gastrointestinal aGVHD, and 57% in those with hepatic aGVHD. On day +100 after the start of ET, 52% of the children were in CR, 16% were in PR, and the remaining 32% failed to respond. Overall survival was 76.5% in responders and 16.7% in nonresponders (P = .004). Transplantation-related mortality at 5years was 34.1% (95% confidence interval, 18.6% to 57.1%). In our experience, ET has proven to be effective as second-line treatment in children with SR aGVHD

Alternating Hemiplegia of Childhood: Pharmacological treatment of 30 Italian patients

Background Alternating Hemiplegia of Childhood (AHC) is a severe disorder. Several drugs have been administered as prophylaxis for paroxysmal attacks, however, no therapy is completely effective. Methods Our aim is to review the pharmacological data related to the prophylactic and acute treatment of a cohort of 30 patients (16&nbsp;M, 14&nbsp;F, age range 5\u201342&nbsp;years) and to correlate them with the clinical and genetic data collected through the Italian Biobank and Clinical Registry for AHC. Results Flunarizine was the most commonly used long-term treatment in the cohort; it reduced duration and frequency of attacks in 50% of patients and decreased intensity in 32.1%. In younger patients, flunarizine seemed significantly more effective in reducing intensity. We found no correlation between the effectiveness of flunarizine and genotype, or between developmental outcome and duration of treatment. In particular, 3 of our patients affected by E815K mutation presented rapid neurological deterioration despite ongoing treatment. Among the other administered prophylactic therapies, few proved to be effective (benzodiazepines, niaprazine, acetazolamide, melatonin, olanzapine, ketogenic diet). No clear rationale exists regarding their use, but these therapies may work by reducing the triggering factors. Conclusions The presented data are retrospective, but they are aimed at filling a gap given the rarity of the disease and the lack of randomized and controlled studies. Besides their usefulness in clarifying the pathophysiology of the disease, prospective studies involving larger cohorts of ATP1A3 mutated AHC patients are needed to provide a rationale for testing other molecules

Assessment of copy number variations in 120 patients with Poland syndrome

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown

Maternal periconceptional factors affect the risk of spina bifida-affected pregnancies: an Italian case-control study

Abstract Purpose Neural tube defects, including spina bifida and anencephaly, are the second most common birth defects with an incidence in Italy of 0.4-1/1,000. Information on factors playing a role in the pathogenesis of spina bifida is based on populations with different exposures, lifestyle, social and cultural habits compared to Italian people. Our objective was to fill this gap by using data from a casecontrol interview study carried out at the G. Gaslini Children&apos;s Hospital, Genoa, from 2000 to 2008. Methods We surveyed questionnaires from 133 case mothers and 273 control women providing information on periconceptional risk factors. Univariate and multivariate logistic regression analyses were used to estimate risks by odds ratios (ORs) and 95% confidence intervals (95% CIs). Results Univariate results suggest that birth order, low maternal educational level, age, smoking habits, alcohol consumption, high caffeine intake, lack of folate supplementation, low and high calorie diet, occasional consumption of fruit and vegetables, high emotional stress, and environmental pollution are associated with an increased spina bifida risk. Nevertheless, high caffeine intake (OR= 10.82; 95% CI, 3.78-31), low calorie diet (OR=5.15; 95% CI, 1.79-14), occasional consumption of fruit and vegetables (OR=3.38; 95% CI, 1.67-6.82), alcohol consumption (OR=3.05; 95% CI, 1.24-7.50) and, above all, lack of folate supplementation at any time of pregnancy (OR= 20.54; 95% CI, 5.41-77) mainly determined spina bifida risk in the multivariate analysis. Conclusion Our findings point out that a common underlying mechanism, a disturbed folate/homocysteine metabolism, may be causative for the burden of spina bifida in the Italian population

Vein of Galen aneurysmal malformation in newborns: a retrospective study to describe a paradigm of treatment and identify risk factors of adverse outcome in a referral center

BackgroundVein of Galen aneurysmal malformation (VGAM) is a rare cerebral vascular malformation associated with significant morbidity and mortality. Newborns with VGAM without adequate treatment may develop rapidly deteriorating high output heart failure (HOHF) and are at risk for severe neurological outcomes.ObjectiveTo describe the clinical course and management of newborns with VGAM, and identify which echocardiographic and neuroradiologic factors may be associated with severe heart failure at birth and adverse short term outcomes.MethodsThis is a single center retrospective cohort study including all consecutive newborns with VGAM admitted to Gaslini Children's Hospital between 2009 and 2022. We reviewed clinical data, intensive care support, fetal and neonatal cardiologic and neuroradiologic findings and we studied the association with severe HOHF, endovascular complications and death.ResultsOut of 40 newborns, 17 (42.5%) developed severe HOHF requiring early endovascular procedures. Medical treatment was focused on the main components of HOHF by providing inotropic support and peripheral vasodilation. Pulmonary vasodilators were avoided to reduce the negative effects of pulmonary overflow and prevent vascular remodeling. Reduction of the obligatory left to right shunt through the VGAM was possible only through endovascular treatment. Fetal cardiothoracic ratio was significantly associated with severe HOHF at birth and death. Cardiologic parameters of right ventricular overload, pulmonary hypertension and systemic steal were the leading findings associated with haemodynamic compromise at birth. The mediolateral diameter of the straight or falcine sinus at its shortest section (SS-MD), and arterial pseudofeeders were significantly associated with severe HOHF at birth in prenatal and postnatal assessments. None of the postnatal echocardiographic and MRI variables, nor a higher inotropic support were associated with major periprocedural complications or death. Mortality was due to palliation for congenital severe brain damage (4/40, 10%), or major periprocedural complications (3/40, 7.5%). None of the patients died due to HOHF and multiorgan failure. Overall survival at discharge was 82.5% (33/40).ConclusionsThe complexity of neonatal VGAM pathophysiology requires a multidisciplinary approach, specialized intensive care management, and early endovascular treatment to reduce mortality and optimize clinical outcomes. Cardiologic and neuroradiologic parameters are key to define risk stratification and treatment strategies

Antibiotics for the management of transient tachypnea of the newborn

This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess whether: antibiotics - compared to placebo or no intervention - are effective and safe in the management of infants with a suspected diagnosis of transient tachypnea of the newborn; it is safe to withhold exposure to antibiotics for infants with a diagnosis of transient tachypnea of the newborn. We will perform subgroup analyses regarding gestational age; birth weight; mode of delivery; route of administration; type of antibiotic (see Subgroup analysis and investigation of heterogeneity)

Early and Long-Term Results of Stent Implantation for Aortic Coarctation in Pediatric Patients Compared to Adolescents: A Single Center Experience

Background. Stents have become the treatment of choice for native aortic coarctation in adults and adolescents, but in pediatric patients insufficient data are currently available to identify the best therapeutic option. Methods. To compare the outcomes of pediatric and adolescent patients, we retrospectively evaluated early and long-term results of stenting for aortic coarctation in 34 patients divided into 2 groups (A and B) composed, respectively, of 17 children (mean age 8.2±2.3, weight ≤30 kg) and 17 adolescents (mean age 14.3±1.7, weight &gt;30 kg). Results. No significant differences in outcome were found between groups immediately after the procedure. In all of our patients, peak systolic gradient pressure significantly decreased after stenting from 43.7±12 to 1.7±3.1 mmHg in group A and from 39.4 ± 16.8 to 1.6 ± 3 in group B ( &lt; 0.0001). We observed early and late adverse events in both groups: early femoral vessel injury or thrombosis was more frequent in younger patients, as well as restenosis due to vessel growth requiring stent redilatations, often complicated by stent fractures. Data from long-term follow-up showed that, in younger patients, stress-related hypertension was more frequent. Conclusions. The procedure was immediately safe and effective in both groups. Pediatric patients must be accurately selected before stenting because they could probably need reinterventions and stents could impact on their future therapeutic perspectives

Head midline position for preventing the occurrence or extension of germinal matrix-intraventricular hemorrhage in preterm infants

Secondary objectives:Secondary objectives:P Primary objective: To assess whether head midline position compared with any other head position is more effective in prevention or extension of germinal matrix-intraventricular hemorrhage in infants born at ≤ 32 weeks' gestational age. Secondary objectives: To perform subgroup analyses regarding gestational age, birth weight, intubated versus not intubated, and with or without GM-IVH at trial entry (see Subgroup analysis and investigation of heterogeneity)