Giuseppe Fabio Parisi

Giant cell ependymoma of the cervical spinal cord: case report and review of the literature

Ependymomas account for 2–6% of all central nervous system neoplasms. They develop from the ependymal cells that line the ventricular cavities of the brain and the central canal of the spinal cord, as well as from ependymal clusters in the filum terminale. Giant cell ependymoma (GCE) is a rare subtype, with few cases reported, mostly in the brain. We describe the case of a cervical spinal cord ependymoma with pleomorphic giant cells and focal calcifications occurring in a 25-year-old woman. Magnetic resonance imaging revealed a large multicystic and partially enhancing intramedullary tumour extending from C2 to C5. Intraoperative analysis of frozen section tissue fragments suggested a malignant tumour; however, an obvious cleavage plane was present around most of the mass, and a macroscopically complete tumour removal could be achieved. Subsequently, paraffin sections and immunohistochemical investigations revealed unequivocal evidence of a GCE with focal calcifications. This case, the second giant-cell ependymoma to be described in the spinal cord and the first with focal calcifications, highlights the features of GCE and the discrepancy between the worrisome histological appearance, the surgical findings and the clinical relatively good prognosis.

Liver Disease in Cystic Fibrosis: an Update

Context Cystic fibrosis (CF) is the most widespread autosomal recessive genetic disorder that limits life expectation amongst the Caucasian population. As the median survival has increased related to early multidisciplinary intervention, other manifestations of CF have emergedespecially for the broad spectrum of hepatobiliary involvement. The present study reviews the existing literature on liver disease in cystic fibrosis and describes the key issues for an adequate clinical evaluation and management of patients, with a focus on the pathogenetic, clinical and diagnostic-therapeutic aspects of liver disease in CF. Evidence Acquisition A literature search of electronic databases was undertaken for relevant studies published from 1990 about liver disease in cystic fibrosis. The databases searched were: EMBASE, PubMed and Cochrane Library. Results CF is due to mutations in the gene on chromosome 7 that encodes an amino acidic polypeptide named CFTR (cystic fibrosis transmembrane regulator). The hepatic manifestations include particular changes referring to the basic CFTR defect, iatrogenic lesions or consequences of the multisystem disease. Even though hepatobiliary disease is the most common non-pulmonary cause ofmortalityin CF (the third after pulmonary disease and transplant complications), only about the 33%ofCF patients presents clinically significant hepatobiliary disease. Conclusions Liver disease will have a growing impact on survival and quality of life of cystic fibrosis patients because a longer life expectancy and for this it is important its early recognition and a correct clinical management aimed atdelaying the onset of complications. This review could represent an opportunity to encourage researchers to better investigate genotype-phenotype correlation associated with the development of cystic fibrosis liver disease, especially for non-CFTR genetic polymorphisms, and detect predisposed individuals. Therapeutic trials are needed to find strategies of fibrosis prevention and to avoid its progression prior to development its related complications.

EFFECTIVENESS OF ISCHIA THERMAL WATER NASAL AEROSOL IN CHILDREN WITH SEASONAL ALLERGIC RHINITIS: A RANDOMIZED AND CONTROLLED STUDY

Allergic rhinitis is characterized by local inflammation. Nasal lavage may be a useful treatment, however, there are few studies on this topic. This study aims to evaluate the effects of Ischia thermal water nasal irrigation on allergic rhinitis symptoms and airway inflammation during the period of natural exposure to Parietaria pollen in children with allergic rhinitis and intermittent asthma. Forty allergic children were randomly divided into two groups: the first group (Group 1) practiced crenotherapy with thermal water aerosol for 15 days per month, for three consecutive months, the control group (Group 2) was treated with 0.9% NaCl (isotonic) solution. In addition, all children were treated with cetirizine (0.5 gtt./kg/day once daily). Nasal symptom assessment, including Total Symptom Score (TSS), spirometry, and exhaled nitric oxide (FeNO) were considered before the treatment (T0), at the end of the treatment (T1) and again 2 weeks after the end of the treatment (T2). The study was registered in the Clinical Trials.gov (NCT01326247). Thermal water significantly reduced both TSS and FeNO levels and there was a significant relationship between reduction of nasal symptoms and FeNO values at the end of treatment with thermal water. In conclusion, this study shows that nasal crenotherapy with the hyper-mineral chloride-sodium water of Ischia was effective in children with seasonal allergic rhinitis based on the sensitivity to Parietaria. These results demonstrate that this natural treatment may be effective in a common and debilitating disease such as the allergic rhinitis.

Severe Kawasaki disease in a 3-month-old patient: a case report

BackgroundKawasaki disease is a multi-system vasculitis which usually occurs in children under 5 years of age. In infants under three months of age, it is very rare and usually associated with a high incidence of incomplete or atypical forms, often unresponsive to treatment. This condition increases the risk of cardiovascular complications such as coronary artery aneurysms.Case presentationWe describe a 3-month-old infant who developed early and severe aneurysms in three coronary arteries despite a timely administration of intravenous immunoglobulins, followed by three days of intravenous methylprednisolone.ConclusionThis case report underlines that the development of coronary artery aneurysm correlates with a delayed diagnosis and treatment, incomplete or atypical forms of the disease, and additionally the severity of clinical presentation, especially in cases of very young infants below 3 months of age. Our case is notable because of the very young age of the patient, the severity of clinical presentation with an early development of coronary artery aneurysms and the unresponsiveness to the therapy.

High mobility group box 1: Biomarker of inhaled corticosteroid treatment response in children with moderate-severe asthma

BACKGROUND High mobility group box 1 (HMGB1) is abnormally expressed in serum and sputum of patients with allergic asthma. OBJECTIVE The aim of this study was to investigate the role of HMGB1 as guidance for treatment management of children with asthma. METHODS Thirty children with asthma and 44 healthy children were enrolled. The patients were classified according to Global Initiative for Asthma Guideline disease severity criteria. Sputum HMGB1 levels and lung function index (percentage forced expiratory volume in 1 second [FEV1%]) were recorded in the cohort study at baseline (T0) and after 3 (T3) and 6 (T6) months of inhaled corticosteroids (ICS) treatment. RESULTS Sputum HMGB1 levels were significantly higher in all the patients with asthma (p < 0.001). An inverse correlation between sputum HMGB1 levels and pulmonary function parameters was observed only in the children with moderate asthma (T0: FEV1%, r = -0.9891, p < 0.001; T3: FEV1%, r = -0.6763, p < 0.001; T6: FEV1%, r = -0.5419, p < 0.05) and in the children with severe asthma (T0: FEV1%, r = -0.8696, p < 0.001; T3: FEV1%, r = -0.6477, p < 0.05; T6: FEV1%, r = -0.8627, p < 0.001). After ICS treatment, a significant decrease of sputum HMGB1 levels was noted in moderate (T0 [93.44 ± 20.65 ng/mL] versus T3 [77.96 ± 1.81 ng/mL] versus T6 [67.75 ± 3.01 ng/mL]; p < 0.0001) and in the children with severe asthma (T0 [130.3 ± 7.48 ng/mL] versus T3 [156.9 ± 1.09 ng/mL] versus T6 [116.08 ± 4.77 ng/mL]; p < 0.0001) data are mean ± standard deviation, respectively. The area under the receiver operating characteristic curve, performed to define the diagnostic profile of sputum HMGB1 levels in identifying the children with asthma, was 0.713. CONCLUSION In addition to the findings that HMGB1 is a sensitive biomarker of allergic asthma in children, our data demonstrated a significant correlation between the decrease of HMGB1 levels and a successful treatment response.

YKL-40 as marker of severe lung disease in cystic fibrosis patients

BACKGROUND YKL-40 is a chitinase-like protein present in serum of healthy subjects and its levels are increased in several human inflammatory diseases. The aim of this study was to evaluate the levels of both serum and sputum YKL-40 in cystic fibrosis (CF) patients. METHODS Serum and sputum YKL-40 levels were measured in a cohort of twenty-eight patients with a diagnosis of CF and twenty healthy controls. RESULTS Serum YKL-40 levels were significantly higher in CF patients (88.8±56.7 vs 18.6±2.9ng/ml, P<0.001), as well as sputum YKL-40 levels (138.5±132.7 vs 28.2±24.34, P<0.001) than in healthy controls. Serum YKL-40 levels were closely related to YKL-40 levels assessed in sputum samples (r=0.71; P<0.01). CONCLUSIONS YKL-40 is elevated in CF patients and is further elevated during severe exacerbations. Longitudinal studies in infant are needed to establish its role in disease pathogenesis.

Minor pulmonary malformations in a child

This case report describes an Italian female who was born at full term via Caesarean delivery, performed for breech presentation. She was the first child of healthy, unrelated parents. At birth, she weighed 2600 g (<3rd centile; −2 sd) and measured 45 cm in length (<3rd centile; −2 sd). Psychomotor development was normal for her age. The recommended immunisation schedule was administered. Newborn screening tests (hip ultrasound and acoustic reflexes) as well as echocardiography were normal. There was no known maternal exposure to teratogens or infections. The family history was unremarkable, except for retinitis pigmentosa and hypothyroidism (in the mother). Can you diagnose this child with minor pulmonary malformations and recurrent pulmonary symptoms? http://ow.ly/6zQB30jHZAP

Zooming in on the ERS fellowships and the International Congress

These fellowships are focused on young scientists and clinicians in the early stages of their research career in respiratory medicine. They provide a unique opportunity to visit a host institution in a country other than the candidate’s own for 1–3 months, with the aim of learning a research technique not available in the home institution. The call for applications will be open in the summer and will close on October 1, 2018. An overview of @ERStalk fellowship opportunities with testimonials from previous fellows, and 12 tips for getting involved in #ERSCongress from @EarlyCareerERS http://ow.ly/XUaI30jjpPc

Pilot study shows right ventricular diastolic function impairment in young children with obstructive respiratory disease

This study determined cardiovascular impairment in young children with obstructive respiratory disease who were assessed using the opening interrupter technique (RINT).

Exhaled markers of anti-oxidant activity and oxidative stress in stable cystic fibrosis patients with moderate lung disease

The sustained imbalance between oxidant and antioxidant species contributes to lung damage in patients with cystic fibrosis (CF). Glutathione (GSH) is an important component of the antioxidant defense in the airways epithelial lining fluid and its transportation out of the cells may be altered in CF. The aim of this study was to assess the oxidants/antioxidants balance in the airways of patients with CF. We measured the concentrations of GSH, the total antioxidant capacity and the concentration of 8-iso-prostaglandin F2α (8-isoprostane), a marker of oxidative stress, in the exhaled breath condensate of 17 non-smoking patients with CF, in stable phase, and in 17 age-matched healthy subjects. The levels of GSH and total antioxidant capacity in patients with CF were significantly lower than in healthy subjects (0.66 ± 0.07 μM versus 1.30 ± 0.08 μM, p < 0.001, respectively for GSH; 0.157 ± 0.02 mM and 0.32 ± 0.01 mM, p < 0.05, respectively for antioxidant capacity). The concentration of 8-isoprostane was higher in CF than in healthy controls (26.5 ± 0.1 pg ml-1 versus 10.8 ± 0.1 pg ml-1; p < 0.05). A low concentration of antioxidant agents, particularly glutathione, and increased levels of 8-isoprostane in the exhaled breath suggest an altered oxidizing environment in the airways of patients with CF. This altered redox environment in the epithelial liquid surface may contribute to progressive lung disease.