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Objective: We examined the reliability of the main prenatal and postnatal prognosis-related indexes that can be used to evaluate congenital diaphragmatic hernia (CDH) outcome. Methods: Seventy-seven neonates with CDH were analyzed according to CDH prognosis-related factors, divided into prenatal findings, postnatal clinical values and postnatal predictive outcome scores applied at birth and within the first 12–24 h. The data are compared between two groups: survivors and non-survivors. Results: During prenatal age, major associated anomalies, intrathoracic stomach, diagnosis prior to 25 weeks of gestational age and lung-to-head ratio < 0.6 were statistically significant, demonstrating their greater incidence in non-survivors. The majority of postnatal values at PICU admission were found to be reliable in identifying the CDH outcome: paO2/FiO2, oxygenation index, alveolar-arterial-O2gradient, arterial-alveolar-O2tension ratio, pH, mean blood pressure, body temperature. All the postnatal predictive outcome scores (Apgar 1′ and 5′, CDH-Study-Group equation, Score for Neonatal-Acute-Physiology II, SNAP-Perinatal-Extension II, Pediatric Risk of Mortality III and Wilford-Hall/Santa-Rosa formula) were statistically significant with more favorable values for prognosis in the survivors group. Conclusion: The chances of predicting CDH outcome are fairly high. During prenatal age, only a few findings may be obtained. Conversely, many postnatal indexes and scores can reliably predict such outcome. [ABSTRACT FROM AUTHOR]

Background: The Subglottic Cysts (SGCs) are a rare cause of respiratory distress in infants. Typical risk factors include male gender, extreme prematurity, gastro-oesophageal reflux and invasive ventilation, the latter being associated with mucosal damage and blockage of the subglottic cysts' ducts. We describe a case of acquired subglottic cysts in a premature infants presented with respiratory distress., Case Presentation: A premature male infant was born at 25 weeks + 2 days with a history of monochorionic diamniotic twin pregnancy with twin-to-twin transfusion syndrome. During hospitalization, invasive mechanical ventilation was necessary for a total of 18 days; the patient was discharged at postmenstrual age of 40 weeks + 1 day in good condition. At 43 weeks post-menstrual age, he presented to our department with mixed stridor and worsening of respiratory dynamics. A laryngotracheoscopy evaluation was performed. The exam showed the presence of multiple SGCs causing an almost complete obstruction of the airway. Because of the significant reduction of the airway's patency, the child underwent a tracheotomy and thereafter cysts' removal using cold steel microinstruments. A better airway patency was restored although a slight glottic edema persisted. The histopathology confirmed the benign nature of the lesions. Successive controls showed a completely patent airway and absence of SGCs., Conclusion: In conclusion, SGCs should be considered in preterm infants with respiratory distress previously intubated, which cannot be explained by the most common causes. Early diagnosis and treatment are fundamental to reducing the morbidity and mortality associated with this disease., (© 2024. The Author(s).)

Chronic lymphocytic leukemia (CLL) therapies differ in efficacy, side effects, route, frequency, and duration of administration. We assessed patient preferences for treatment attributes and evaluated associations with disease stage, treatment line, and socio-demographic characteristics in a cross sectional, observational study conducted at 16 Italian hematology centers. Study visits occurred between February and July 2020; 401 adult patients with CLL (201 Watch and Wait (W&W), 200 treated) participated in a discrete choice experiment (DCE), composed of 8 choices between pairs of treatment profiles with different levels of 5 attributes of currently available CLL treatments (length of response, route and duration of administration, risk of side effects including diarrhea, infections, or organ damage). Health-related quality of life was assessed with the EQ-5D-5L, EORTC QLQ-C30 and QLQ CLL-16. Previously treated patients had longer disease duration (7 vs. 5 years), higher prevalence of serious comorbidities (45.5% vs. 36.2%) and high-risk molecular markers (unmutated IGHV 55.6% vs. 17.1%; TP53 mutation 15.2% vs. 4.0%). Health-related quality of life scores were similar between groups. In the DCE, W&W patients rated "possible occurrence of infections" highest (relative importance [RI] = 36.2%), followed by "treatment and relevant duration" (RI = 28.0%) and "progression-free survival (PFS)" (RI = 16.9%). Previously treated patients rated "treatment and relevant duration" highest (RI = 33.3%), followed by "possible occurrence of infections" (RI = 28.8%), "possible occurrence of organ damage" (RI = 19.4%), and "PFS" (RI = 9.8%). Concern over infection was rated highest overall; unexpectedly PFS was not among the most important criteria in either group, suggesting that the first COVID-19 pandemic wave may have influenced patient preferences and concerns about CLL therapy options., (© 2023 Abbvie SRL and The Authors. Hematological Oncology published by John Wiley & Sons Ltd.)

Chronic lymphocytic leukemia (CLL) is the most common form of adult leukemia in the western world. In Italy, venetoclax was approved for use in patients with CLL as monotherapy in 2017 and in combinations in 2019. As a result of this delayed approval, there are relatively few real-world studies from Italian clinical practice and much of the data are in heavily pretreated patients. We have collected the available studies in Italian routine practice. Three studies confirm the effectiveness and tolerability of this agent in patients with relapsed/refractory CLL and high-risk disease characteristics, many of whom had received prior B-cell receptor signaling treatment. Addition of rituximab to venetoclax produced more complete responses in patients with relapsed/refractory CLL, while higher disease burden and progression while receiving a prior Bruton's tyrosine kinase inhibitor were both associated with poorer outcomes in patients treated with venetoclax. Venetoclax was well-tolerated with low discontinuation rates. No studies of venetoclax plus obinutuzumab for the first-line treatment of patients with CLL were available due to the short time since approval in Italy. Several cohorts addressed the impact of COVID-19 on patient management and outcomes, suggesting that treated patients and those in clinical observation had similar rates of COVID-19-related hospital admission, intensive care unit admission, and mortality. Overall, the responses and tolerance to venetoclax observed in the Italian real-world setting confirm the tolerability and effectiveness of venetoclax regimens in high-risk patients., (© 2023 Abbvie S.R.L and The Authors. Hematological Oncology published by John Wiley & Sons Ltd.)

Congenital nasal pyriform aperture stenosis (CNPAS) is a rare anomaly causing respiratory distress in newborns. While the primary surgical technique is well established, the timing of the removal of the stents and the management of restenosis remain a matter of debate. We report a case of a female newborn affected by CNPAS with the recurrence of respiratory distress after primary surgery due to the early removal of nasal stents, causing an overgrowth of granulation tissue. This report notes that restenosis was successfully managed by repeating the procedure over a 14-day period, with soft polyvinyl chloride uncuffed tracheal tubes acting as nasal stents.

Mastocytosis can be associated with other clonal or non-clonal hematologic diseases as well as a variety of non-hematologic malignancies. A 75-year-old Caucasian male patient was referred to us with a 5-month history of neutrophilic leukocytosis and mild splenomegaly. He had developed a cutaneous melanoma sixteen years ago. According to the clinical and pathological features, a final diagnosis of systemic mastocytosis was established. The patient started treatment with interferon-α at a dose of 3 MIU/day, combined with low doses of prednisone. We observed a rapid disappearance of symptoms. Unfortunately, after 3 months a diagnosis of pancreatic adenocarcinoma was established. A review of the literature suggests that mastocytes could have a pivotal role in several malignancies. Different chemokines, mitogenic factors, chemical mediators of inflammation, and specific gene mutations could explain the association between mastocytosis and other hematologic and non-hematologic disorders.

Venetoclax (ABT-199) is a small-molecule selective oral inhibitor of the antiapoptotic protein Bcl-2 that promotes programmed cell death of chronic lymphocytic leukemia (CLL) cells regulating the release of proapoptotic factors, such as Smac/Diablo, apoptosis-inducing factor (AIF) and cytochrome c. In April 2016, the U.S. Food and Drug Administration (FDA) granted accelerated approval to venetoclax for patients diagnosed with CLL with 17p deletion, as detected by an FDA-approved test, who have received at least one prior therapy. This review will focus on the mechanism of action, preclinical studies and clinical development of venetoclax both as a monotherapy and in combination with other drugs for CLL in the current milieu of therapy dominated by novel tyrosine kinase inhibitors such as ibrutinib and idelalisib., (Copyright 2016 Prous Science, S.A.U. or its licensors. All rights reserved.)

Objective: To assess how clinical practice of noninvasive ventilation has evolved in the Italian PICUs., Design: National, multicentre, retrospective, observational cohort., Setting: Thirteen Italian medical/surgical PICUs that participated in the Italian PICU Network., Patients: Seven thousand one-hundred eleven admissions of children with 0-16 years old admitted from January 1, 2011, to December 31, 2012., Interventions: None., Measurements and Main Results: Cause of respiratory failure, length and mode of noninvasive ventilation, type of interfaces, incidence of treatment failure, and outcome were recorded. Data were compared with an historical cohort of children enrolled along 6 months from November 1, 2006, to April 30, 2007, over the viral respiratory season. Seven thousand one-hundred eleven PICU admissions were analyzed, and an overall noninvasive ventilation use of 8.8% (n = 630) was observed. Among children who were admitted in the PICU without mechanical ventilation (n = 3,819), noninvasive ventilation was used in 585 patients (15.3%) with a significant increment among the three study years (from 11.6% in 2006 to 18.2% in 2012). In the endotracheally intubated group, 17.2% children received noninvasive ventilation at the end of the weaning process to avoid reintubation: 11.9% in 2006, 15.3% in 2011, and 21.6% in 2012. Noninvasive ventilation failure rate raised from 10% in 2006 to 16.1% in 2012., Conclusions: Noninvasive ventilation is increasingly and successfully used as first respiratory approach in several, but not all, Italian PICUs. The current study shows that noninvasive ventilation represents a feasible and safe technique of ventilatory assistance for the treatment of mild acute respiratory failure. Noninvasive ventilation was used as primary mode of ventilation in children with low respiratory tract infection (mainly in bronchiolitis and pneumonia), in acute on chronic respiratory failure or to prevent reintubation.

Background. The study aims to verify if the time of preoperative stabilization (≤24 or >24 hours) could be predictive for the severity of clinical condition among patients affected by congenital diaphragmatic hernia. Methods. 55 of the 73 patients enrolled in the study achieved presurgical stabilization and underwent surgical correction. Respiratory and hemodynamic indexes, postnatal scores, the need for advanced respiratory support, the length of HFOV, tracheal intubation, PICU, and hospital stay were compared between patients reaching stabilization in ≤24 or >24 hours. Results. Both groups had a 100% survival rate. Neonates stabilized in ≤24 hours are more regular in the postoperative period and had an easier intensive care path; those taking >24 hours showed more complications and their care path was longer and more complex. Conclusions. The length of preoperative stabilization does not affect mortality, but is a valid parameter to identify difficulties in survivors' clinical pathway.

Aim of the study was to correlate the clinical outcome of eighteen patients who have undergone an allogeneic stem cell transplant (SCT) with the concentration in the peripheral blood (PB) of lymphocyte subpopulations evaluated at 1 year from transplant. The occurrence of acute GVHD and CMV infection correlated with the concentration of Tregs in the PB; CMV infection also correlated with the content of NK cells. The obtained results document that the concentration of Tregs in the PB after an allogeneic SCT may protect from GVHD and from CMV infection; the potential anti-viral role of NK cells is confirmed., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Carnitine palmityl-transferase (CPT) II deficiency is a rare disorder of the fatty acid beta-oxidation cycle. CPT II deficiency can be associated with rhabdomyolysis in particular conditions that increase the requirement for fatty acid oxidation, such as low-carbohydrate and high-fat diet, fasting, exposure to excessive cold, lack of sleep and prolonged exercise. The best known CPT II deficiency is the muscular form with episodic muscle necrosis and paroxysmal myoglobinuria after prolonged exercise. We report a case of a four-year-old male child, who, after one day of hyperthermia and fasting, developed a massive rhabdomyolysis beginning with acute respiratory failure and later complicated by acute renal failure. Appropriate management in Pediatric Intensive Care Unit (PICU) (mechanical ventilatory support, fluid supply combined with mannitol and bicarbonate infusions, administration of acetaminophen and antibiotics, and continuous venovenous haemofiltration) brought about complete resolution with an excellent outcome. Biochemical investigation of muscle biopsy and genetic analysis showed a deficiency of CPT II. The onset of CPT II deficiency with respiratory failure is extremely rare, but a correct and early diagnosis of rhabdomyolysis is the key to successful treatment. A metabolic myopathy such as CPT II deficiency should be suspected in children affected by rhabdomyolysis if trauma, crash, infections, drugs or extreme exertion can be excluded.

Background: The influence of the graft composition on the clinical outcome after allogeneic peripheral blood stem cell (PBSC) transplantation is not well established., Methods: The cellular composition of the apheretic products obtained from 63 human leukocyte antigen-identical siblings was prospectively correlated with the outcome of patients with hematological malignancies undergoing an allogeneic PBSC transplant after myeloablative conditioning. The concentration of nuclear, mononuclear, CD34+, T-cell subsets, B cells, and natural killer cells in the graft has been analyzed., Results: In univariate analysis, acute graft-versus-host disease (GVHD) correlated with the disease (P=0.002), with the phase of disease at transplant (P=0.01), and with the number of CD20+ cells infused (P=0.05). In multivariate analysis, a dose of CD20+ cells in the graft higher than the median dose remained the only factor negatively affecting the incidence of acute GVHD (P=0.01; 95% confidence interval [CI]: 0.12-0.78). In univariate analysis, treatment-related mortality (TRM) correlated with the disease (P=0.04) and was negatively affected by a dose of infused B cells greater than the median value (28% versus 50%; P=0.02). In multivariate analysis, TRM was close to statistical correlation with the dose of CD20+ cells (P=0.06; 95% CI: 0.02-1.05). No other clinical parameter was influenced by the composition of the graft., Conclusions: Our results suggest that the concentration of B cells in the apheretic product may predict the incidence of acute GVHD and TRM in patients undergoing an allogeneic PBSC transplantation and open the way to the new preventive and therapeutic strategies for the management of GVHD.

Gastric perforation in neonates is an uncommon condition. In most cases, it is attributed to peptic ulceration and/or hemorrhagic gastritis. The high mortality rate in such patients can be improved by early diagnosis and prompt resuscitation, followed by surgery. We report a full-term female newborn, who developed a gastric perforation in the first day of life. The possible aetiology and the perioperative management are discussed.

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare disease. It is about an abnormal proliferation of mesenchymal elements and failure of maturation of bronchiolar structures, characterized by the replacement of normal pulmonary tissue with "cysts" in variable size and number. These lesions communicate with the tracheobronchial tree. During fetal period hydrops and polyhydramnios can be associated with CCAM. A cystic adenomatoid malformation can be detected by antenatal ultrasound, and, at the birth, it is confirmed by chest radiography. From January 1990 to December 1998, 24 cases with CCAM came to our observation; 16 of these patients underwent surgery and 14 have come to a complete recovery. The newborns, with CCAM, can show early acute respiratory distress for rapid expansion of the cysts leading to compression of normal lung and mediastinal shift. Conventional mechanical ventilation may cause further expansion of the involved lobe with a ball-valve effect: this take a clinical deterioration. Perioperative ventilatory management with high frequency oscillation (HFO) is useful to stabilize and to improve arterial blood gases of this patients. At the moment, thanks to the early prenatal sonographic diagnosis, it is possible, and strongly advisable, after adequate serial checkings during the pregnancy, to refer CCAM cases to a tertiary centre that is properly equipped, where a poly-specialist team consisting of obstetrician, neonatologist, pediatric anesthetist and pediatric surgeon, will be able to plan and arrange in the best treatment necessary for the newborn.