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Background and aims Thoracic air leak syndrome (TALS) is a complication related to chronic pulmonary graft-versus-host disease (pGvHD) that affects approximately 0.83% to 3.08% patients after allogenic hematopoietic stem cell transplant. Such complication is defined as the occurrence of any form of air leak in the thorax, including spontaneous pneumomediastinum or pneumopericardium, subcutaneous emphysema, interstitial emphysema and pneumothorax and has a negative impact on post-transplant survival. The aim of the present study is to describe a single-center experience in the surgical management of recurrent TALS in adolescents and young adults and its outcome. Methods We retrospectively reviewed the clinical notes of patients with previous allogenic hematopoietic stem cell transplant who underwent surgical procedures for recurrent TALS from January 2016 until March 2021. As well we analyzed clinical data, number of episodes of thoracic air leak, surgical procedures and relative outcome. Results In the examined period, four patients, aged 16 to 25 years, underwent surgical procedures for TALS, including thoracostomy tube placement, thoracoscopic pleurodesis and thoracotomy. All the patients had been diagnosed with pGvHD before the onset of TALS, with a mean time lapse of 276 days (range 42 – 513). These patients experienced on average 4.5 air leak episodes (range 3 – 6). All the patients experienced at least two episodes before surgery. One patient underwent emergency tube thoracostomy only, three patients underwent thoracoscopic pleurodesis and two patients underwent thoracotomy. After surgery, patients were free from air leak symptoms for a mean time of 176 days (range 25 – 477). Pulmonary function progressively deteriorated, and all the patients eventually died because of respiratory failure after a mean time of 483 days (range 127 – 1045) after the first episode of air leak. Conclusions Surgery provides temporary relief to symptoms related to TALS. When TALS develops, pulmonary function progressively worsens toward respiratory failure and death.

Thoracic air leak syndrome (TALS) is a complication related to chronic pulmonary graft-versus-host disease (pGvHD) and is defined as the occurrence of any form of air leak in the thorax. Four patients, aged 16 to 25 years, underwent surgical procedures for TALS between January 2016 and March 2021. All the patients experienced at least two episodes before surgery. After surgery, patients were temporarily free from air leak symptoms. All the patients eventually died because of respiratory failure. Surgery provides temporary relief to symptoms related to TALS. When TALS develops, pulmonary function progressively worsens toward respiratory failure and death.

Background Noncystic fibrosis bronchiectasis (NCFB) is still considered an "orphan disease" in pediatric age. Objective The study describes the clinical and functional features, the instrumental, and microbial findings of a large cohort of patients with NCFB, followed in a single tertiary level hospital. Methods Children and adolescents diagnosed with NCFB from January 1, 2010 to December 31, 2019 were included. Data from the diagnosis and during the years of follow-up were recorded retrospectively. Results One hundred and thirty-eight patients were enrolled. The most common cause of NCFB was postinfectious (33%), followed by primary ciliary dyskinesia (PCD) (30%), esophageal atresia (EA) (9.5%), and secondary immunodeficiency (9.5%). Chronic cough was the most frequent symptom. The median age of symptoms presentation was 3 years (interquartile age [IQR]: 12-84), with a precocious onset in PCD and EA groups. The median age of CT diagnosis was 9 years for all groups but PCD patients who were diagnosed at older age. Lingula, medium, upper, and lower lobes were more involved in PCD group, while diffuse distribution was observed in the postinfectious one. Microbial exams showed Pseudomonas aeruginosa colonization higher in PCD patients (22%). Despite microbial differences in airways colonization, no difference in respiratory exacerbation rate was recorded among groups. Lung function tests demonstrated the stability of forced expiratory volume in 1 s (FEV1) and forced vital capacity (FVC) over time, except for the secondary immunodeficiency group. Conclusions The role of infections in developed countries should not be underestimated and a major effort to obtain an earlier identification of bronchiectasis should be taken. A prompt diagnosis of NFCB could help to reduce the frequency of exacerbations and improve the stability of lung function over time.

Pediatric palliative care (PPC) is an active and total approach to the care of children with life-limiting conditions and their families. PPC programs provide ongoing treatment for children with medical complexity (CMC), many of whom will reach adulthood. Aim of the study was to describe a population of CMC attendingin six preselected months the Respiratory Intermediate Care Unit of a tertiary referral hospital for southern and central Italy. We enrolled all CMC patients admitted to our unit in six preselected months and registered pathologies and different categories of childhood diseases, devices and needs, hospitalization and home care plan. Among the 275 children admitted to our unit, 130 CMC were included. Median age was 9.9 (0.1-40.0) years. The main pathologies recorded were neuromuscular, neurological, respiratory, metabolic and malformative diseases, genetic syndromes and outcomes of prematurity. Comorbidity due to respiratory, digestive, neurological, cardiac and urological involvement was present in a high percentage of cases. Among our patients, only 46 were not carriers of any medical device. The average length of hospitalization was 7.0 (1.0-270.0) days with 2 (1.0-7.0) admissions per year per patient. Home care activation was not required for 47 out of 130 patients. Children eligible for PPC are increasing and their survival results in a rise of comorbidities and special needs demanding multilevel interventions. Respiratory symptoms are the most recurrent ones observed, thus requiring an expert in PPC with expertise in the respiratory field. Sharing data and knowledge of CMC needs may help improve care coordination.

Background: reports suggest that congenital esophageal atresia/tracheoesophageal fistula (EA/TEF) is associated with a number of upper airway anomalies [1,2]. Aims: it remains unclear whether vocal cord paresis or paralysis (VCP) is usually a primary anomaly, or is secondary to EA/TEF repair. Methods: a retrospective study was carried out in 105 patients with EA/TEF referred to the Department of Pediatric Medicine, Bambino Gesu Children’s Hospital (BGCH) for multidisciplinary follow-up following EA/TEF repair, between 2010 and 2015. Results: 64 of the 105 patients included in the study underwent EA/TEF repair and had pre-operative bronchoscopy in BGCH; the remaining patients had their initial surgery elsewhere. No patient included in the study had VCP detected pre-operatively. Six patients were diagnosed with VCP during the follow-up period (6/105, 5.7%), of whom 4 were surgically managed at the BGCH, and two were managed elsewhere. Four children with bilateral VCP initially required tracheostomy. The other two patients were treated with posterior cordotomy by CO2 laser, and one received a tracheostomy. Conclusion: we did not observe VCP in pre-operative bronchoscopy in patients undergoing EA/TEF repair, but observed VCP in 5.7% of patients during a post-operative re-evaluation, suggesting that VCP is an acquired lesion in TEF patients. Future studies are needed to determine whether VCP is present in some patients prior to EA/TEF repair, and if so, what the prevalence is. References: 1. Ann Otol Rhinol Laryngol. 2015; 124: 808-13. 2. Laryngoscope. 2015; 125: 469-74.

Introduction: congenital bronchopulmonary malformations are uncommon but potentially life-threatening. Methods: 73 patients were evaluated for primary or secondary bronchopulmonary abnormalities, in 2018. Results: 10 had static airway anomalies: congenital subglottic stenosis (n=2), left bronchial stenosis (n=4), congenital tracheal stenosis (n=4). 23 had dynamic airway abnormalities: tracheomalacia (n=21), laryngomalacia (n=2), bronchomalacia (n=3). 27 had bronchial tree and lung development anomalies: left bronchial atresia (n=2), right bronchial atresia (n=2), supernumerary bronchus (n=2), “tracheal” bronchus (n=4), bronchus rotation (n=1), cystic adenomatoid malformation (n=6), bronchogenic cyst (n=1), congenital lobar emphysema (n=2), lung hypoplasia (4), lung hypo-dysplasia (n=2). 8 patients had diaphragmatic anomalies: congenital diaphragmatic hernias (n=6) and relaxation (n=2). 35 had vascular anomalies determining trachea-bronchial tree involvement: double aortic arch (n=7), right aortic arch and arteria lusoria with or without Kommerell diverticulum (n=respectively 9 and 6) were the most frequent. 56 children had respiratory symptoms. All the woman performed a prenatal US: 18 detected a malformation, 1 was false negative. 6/7 fetal cardiac US were positive. 69 patients underwent chest CT scan, all were positive. 38 patients underwent flexible laryngo-tracheo-bronchoscopy (LTBS), 35 were positive. Surgery was performed in 31 children. Conclusions: we propose the description of large sample of pediatric patients with congenital bronchopulmonary malformations, followed from one Center. Chest CT and LTBS are important investigation in congenital airway anomalies.

Introduction The usefulness of positive expiratory pressure (PEP) through a PEP valve to enhance expiratory flow and improve cough efficiency is well known in children with tracheoesophageal fistula (TEF) and residual tracheomalacia. Gastroesophageal reflux (GER) is one of the most frequent complications encountered in patients with repaired esophageal atresia (EA) ± TEF. The impact of airway clearance techniques with a PEP valve on GER is not well defined in this group of patients. The aim of this prospective study was to determine the effects of PEP chest physiotherapy on GER burden measured by multichannel intraluminal impedance and pH monitoring (MII-pH) in EA/TEF children. Since the study is still ongoing, preliminary results are hereby presented. Methods EA/TEF patients with tracheomalacia received three 20-min sessions of PEP chest therapy during the 24-hour MII-pH monitoring performed as a routine care. All children were off acid suppression therapy. The PEP session, performed after a 3-hour fasting period, consisted of 10 cycles lasting 1 minute of breathing with a PEP valve, followed by the forced expiratory technique and coughing. Esophageal acid exposure time (AET) and number of reflux episodes (RE) during each PEP session were measured as primary outcomes. Baseline impedance (BI) was also evaluated. MII-pH was defined abnormal if AET was >7% and/or the total RE was >70. Results From January and December 2018, 5 consecutive male EA/TEF children (mean age 8.5 years; range 3–14 years) were enrolled. All of them showed low distal BI (1040 ± 143.2) and normal MII-pH findings (AET: 1.8 ± 2.9%; number of RE: 20.2 ± 9.0). Over the period of the PEP sessions, no significant changes in AET (0.0 ± 0.0), RE (0.6 ± 0.5), and BI were detected compared with the background monitoring. Conclusions Although the limited number of participants prevents any definitive conclusions, our preliminary results indicate that PEP chest physiotherapy does not exacerbate GER in EA/TEF children. Continuation of the study across a larger sample of EA/TEF patients is needed to better define the effects of this simple chest physiotherapy technique on GER burden.

Corticosteroids are widely used for the treatment of allergic reactions but paradoxically themselves may induce acute, delayed, local or systemic allergic reactions and even anaphylaxis with Kounis syndrome. They can suppress the release of arachidonic acid from mast cell membranes, via phospholipase A2 and eicosanoid biosynthesis inhibition. Corticosteroids can promote cell apoptosis and mediate in annexin or lipocortin synthesis, substances that modulate inflammatory cell activation, adhesion molecule expression, transmigratory and phagocytic functions. Antigen-antibody reaction, hapten formation, and medication contaminants are some of the incriminated causes. Patients with atopic diathesis are particularly vulnerable. Complete and thorough previous history of drug reactions or allergies is necessary before administration of any particular medication including corticosteroids.

Objective There have been few published reports on the sleep patterns of patients with spinal muscular atrophy (SMA) type 2, and none on sleep microstructure. The aim of this study was to analyze sleep architecture and microstructure in a group of children with SMA type 2, compared with age-matched and sex-matched controls. Methods Seventeen SMA type 2 children (seven males, mean age 4.2 years) and 12 controls (five males, mean age 5.0 years) underwent full polysomnography to evaluate sleep architecture and microstructure by means of the Cyclic Alternating Pattern (CAP). Results Compared with the control children, the SMA type 2 patients showed a mild increase in the apnea/hypopnea index. Sleep was characterized by a decrease in the number of sleep stage shifts per hour, of percentage of stage N3, of stage R, and of sleep efficiency. On the contrary, significant increases of awakenings per hour, wake after sleep onset, and percentage of stage N1 were found. The CAP analysis revealed a significant increase in the percentage of A1 CAP subtypes, a reduction of that of A3 subtypes, and of A2 and A3 indexes. Conclusions The results indicated an abnormality of sleep macrostructure and microstructure in SMA type 2 patients, which was characterized by a reduction of A2 and A3 subtypes (low and high power arousals), supporting the concept of a decreased arousability in SMA type 2 patients. Similar to a previous report on SMA type 1, the findings might be additional proof of central nervous system involvement, although these alterations are less severe than those observed in infants with SMA type 1.

Background Pleural effusion is a rare complication of ventriculo-peritoneal (VP) cerebrospinal fluid (CSF) shunting and its diagnosis is difficult in patients with neurological and consciousness impairment. Case report Herein we report the case of a child affected by Pfeiffer syndrome and hydrocephalus, shunted at the age of 3 months, who developed acute respiratory failure due to a right-sided pleural effusion 2 years later. Plain chest radiographs and computed tomography (CT) showed the intrathoracic migration of the right VP shunt abdominal tip. Beta-2 transferrin, a marker for CSF, was found in the pleural fluid and the hypothesis of a CSF hydrothorax was confirmed. Effusion was treated with a thoracentesis. Seven days after, the right VP shunt was revised; a ventriculo-atrial (VA) shunt was also placed on the left side to serve as the main CSF shunt and to prevent the recurrence of hydrothorax. We review the pediatric cases of CSF hydrothorax reported in the literature and discuss the mechanisms underlying this complication together with the possible treatments. Conclusion Pleural effusion due to VP shunt insertion is a rare and potentially life-threatening condition that should be suspected in any patient with a VP shunt and respiratory failure. Signs of hydrothorax may moreover represent the only clinical evidence of a shunt-related complication in case of neurologically severely compromised patients in which neurologic examination cannot help to make a diagnosis. Electronic supplementary material The online version of this article (10.1186/s13052-018-0480-2) contains supplementary material, which is available to authorized users.

Background Medications with methyl-prednisolone sodium succinate containing lactose, which potentially contains traces of cow’s milk proteins (CMP), could cause allergic reactions or compromise treatment of acute allergic reactions in sensitized patients. Case presentation We describe the unusual case of a one-year-old child affected by short bowel syndrome and history of severe cow’s milk allergy (CMA) and anaphylactic reaction due to intravenous administration of methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). He was admitted to our hospital for severe respiratory failure and was initially treated with methyl-prednisolone (Urbason 40 mg, Sanofi Aventis), then with methyl-prednisolone sodium succinate (Solu-Medrol 40 mg, Pfizer). After the intravenous administration of second steroid, immediate anaphylaxis was recorded and treatment was stopped. Antihistamine and epinephrine were required and symptom resolution occurred. Conclusion Children who are highly sensitive to milk may have severe allergic reactions also after exposure to CMP through a different administration route than the oral one. Patients who have food allergies need to pay particular attention to the prescription of drugs and their formulation.

Our aim was to assess the efficacy of noninvasive ventilation (NIV) for the treatment of thoracoabdominal asynchrony during sleep in children with spinal muscular atrophy (SMA) types 1 and 2.Nine subjects underwent assessment for sleep apnea/hypopnea index (AHI), mean oxyhemoglobin saturation (SpO2), oxygen desaturation index, transcutaneous carbon dioxide tension (tcpCO2), and mean phase angle during sleep as a measure of thoracoabdominal coordination. A second sleep study was performed with use of NIV.The nine patients (7 mos of age, range 2-33) had a baseline AHI of 2.1 events per hour (range 0.5-55.8), oxygen desaturation index of 3.7 events per hour (range 1.6-46.1), mean tcpCO2 of 46 mm Hg (range 37-60), and phase angle of 127 degrees (range 72.7-151.7). Comparing baseline and NIV sleep studies, we found significant improvement in oxygen desaturation index (P0.010), mean tcpCO2 (P0.001), and phase angle (P0.001). For five patients, phase-angle improvement became significant when using high-span bilevel positive airway pressure (PAP).NIV improved sleep breathing parameters and thoracoabdominal coordination during sleep in SMA types 1 and 2. Phase-angle improvement correlated with bilevel PAP pressures. Phase angle may be useful for the evaluation and monitoring of therapeutic interventions such as NIV.

NK2 homeobox-1 (NKX2.1) gene encoding the thyroid transcription factor-1 (TTF-1) plays a critical role in lung, thyroid, and central nervous system morphogenesis and function; mutations cause a rare form of progressive respiratory failure associated with alterations of surfactant synthesis, composition, and homeostasis. Molecular mechanisms are heterogeneous and poorly explored. A 28 days old male, soon after birth, presented respiratory failure requiring oxygen treatment at FiO2 27%, prolonged for 2 weeks. Routine neonatal screenings detected a high thyroid stimulating hormone concentration. On day 27 congenital hypothyroidism was confirmed and substitutive treatment was begun. Since the persistence of respiratory symptoms sweat test, CFTR mutation, lymphocyte subpopulations, and sputum cultures were tested, resulting negative. Brain and cardiac defects were also ruled out. Bronchoscopy and BAL analysis were normal. Computed tomography showed bilateral multiple ground glass attenuation, consolidative areas and diffuse bronchial wall thickening. Based on the severity of symptoms, the exclusion of other causes of respiratory disease and the CT findings of interstitial lung disease, we investigated genes affecting the surfactant homeostasis. Sequencing analysis of the three exons of the TTF1 revealed a heterozygous mutation c.334G > T that results in the replacement of glycine in position 112 with a stop codon, generating a nonsense protein that lacks the correct transactivation domain in the C-terminal region. Genetic analysis of the family showed that the father, who was asymptomatic, carried the mutation. Screening for TTF-1 deletions or mutations should always be considered in children with congenital hypothyroidism and an unexplained neonatal respiratory distress or neurodevelopmental deficits.

Francesca Petreschi (FP): A 9.8 year–old-girl was first admitted in our unit for a persistent bronchospasm, poorly responsive to salbutamol, and progressive onset of respiratory distress after spontaneous expectoration of a bronchial cast (figure 1A). Her clinical history was uneventful until she was 7 years old, when she suffered from two subsequent bouts of pneumonia, but no admission was required. In the following years, she presented few episodes of bronchospasm, clinically diagnosed, with good response to bronchodilator and no limitation on her daily activities. Her family history was positive for allergic disease. On physical examination at her arrival, she appeared quite unwell with persistent wet cough, bilateral respiratory wheeze but normal levels of saturation. The remaining examination was normal. Figure 1 (A) Bronchial cast. (B) Bronchial fistula secreting milky material under pressure. (C) CT scan of the thorax demonstrating left lower lobe opacity and pleural effusion. (D) Lung biopsy compatible with pulmonary lymphangiectasia. (E) CT scan showing chylopericardium. Renato Cutrera (RC): We have a previously healthy young girl with positive family history for allergies and personal history of few lower respiratory infections and intermittent episodes of wheezing. Patient's history and the spontaneous expectoration of a bronchial cast during an acute episode of bronchospasm, together with her physical examination characterised by intense cough and diffuse wheeze are suggestive of a case of plastic bronchitis (PB), already described as possible complication of allergic asthma. The differential diagnosis, though, should always include more inflammatory diseases of the lung, such as cystic fibrosis, pulmonary infections and acute chest syndrome in sickle-cell anaemia.1 Nicola Ullmann (NU): Patient was afebrile; blood exams were normal, including: haemoglobin, c-reactive protein, immunoglobulins and lipid values. Allergy tests were positive to house dust mites and few pollen, but sweat tests and nasal brushing for ciliary dyskinesia were negative. Spirometry showed mainly …

Height is the result of interactions of several factors including those of genetic origin. About 3% of people have short stature and in most of them the cause is unknown.1 Recently, the SHOX gene (short stature homeobox containing gene), mapped on the pseudoautosomal region (PAR1) of the X and Y chromosomes, has been specifically associated with the short stature of patients with Turner syndrome or with Leri-Weill dyschondrosteosis (LWD).2–7 Few data have been reported on the relationship between SHOX mutations and idiopathic short stature. Rao et al 2 reported one change among 91 patients with idiopathic short stature, and Binder et al 8 found a mutation in one out of 68 patients. The largest study was recently published by Rappold et al ,9 who found a frequency of 2.4% of SHOX mutations using fluorescence in situ hybridisation (FISH) on 150 patients and single strand conformational polymorphism analysis (SSCP) on 750 patients. We report a study carried out on 56 patients with short stature of unknown origin detecting SHOX mutations in seven (12.5%) by using FISH and direct sequencing analyses. ### Patients Fifty-six patients, 33 females and 23 males, with a mean age of 12.2 years (range 5-18 years) entered this study. All patients were unrelated, coming from different regions of central and southern Italy. In order to exclude patients with dyschondrosteosis or other diseases associated with short stature, we used the following criteria: (1) height at or below the 3rd centile; (2) absence of obvious skeletal abnormalities on physical examination; (3) absence of other diseases on physical examination and routine analyses; (4) normal bone age; (5) normal hGH values using a polyclonal in house RIA (lower detection limit 0.1 ng/μl, mean intra-assay coefficient of variation 6.9%, and mean interassay coefficient 9.5%); and (6) normal karyotype in 16 metaphases …