Sensitivity of different assays for the serological diagnosis of epidermolysis bullosa acquisita: analysis of a cohort of 24 Italian patients.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering disease characterized by tissue-bound and circulating autoantibodies to the dermal-epidermal junction. The autoantibody target is type VII collagen (Col VII) which is involved in dermal-epidermal adhesion. Diagnosis is made by clinical and histopathological findings, linear deposition of autoantibodies at the dermal-epidermal junction detected by direct immunofluorescence, and binding to the dermal side of salt-split skin by indirect immunofluorescence (IIF). However, the detection of specific anti-Col VII reactivity has an important confirmatory value. METHODS: The humoral immune response in EBA sera was analysed by (i) IIF on human skin, (ii) a commercial Col VII ELISA, and (iii) immunoblotting on Col VII produced by an epithelial cell line. OBJECTIVE: The aim of this study was to compare the sensitivity of different approaches for the serological diagnosis of EBA. RESULTS: The vast majority of EBA sera (79.2%) bound to the Col VII non-collagenous domains by a commercial ELISA, while a small proportion of patients (12.5%) exclusively reacted to the collagenous domain by immunoblotting. Of note, the autoantibodies reactivity to Col VII was more frequently detected by IB (91.7%) than by IIF (83.3%) and ELISA (79.2%). Interestingly, 2 out of 24 sera recognized Col VII epitopes undetectable in the native secreted protein but present in the context of extracellular matrix proteins, as assessed by immunomapping on Col VII-deficient skin. CONCLUSION: Our findings show that the use of multiple assays allows to improve diagnostic performance. An algorithm for efficient serological diagnosis of EBA is proposed.

Outcomes after tongue-lip adhesion or mandibular distraction osteogenesis in infants with Pierre Robin sequence and severe airway obstruction.

The objective was to review and compare outcomes after tongue-lip adhesion (TLA) and mandibular distraction osteogenesis (MDO) in infants with severe breathing difficulties related to Pierre Robin sequence (PRS). A single-centre retrospective (2002-2012) study was carried out; 18 infants with severe breathing difficulties related to PRS resistant to conservative treatment, who underwent TLA or MDO to correct airway obstruction, were enrolled. The primary outcome measures were successful weaning from respiratory support and resumption of full oral feeding. Nine underwent TLA and nine MDO. Eight of the nine infants who underwent MDO and all those treated with TLA were successfully weaned from respiratory support. After discharge, residual respiratory distress was diagnosed more commonly after TLA than after MDO (6/9 vs 1/9, P=0.050). Infants resumed oral feeding sooner after MDO than after TLA (mean days after surgery to full oral feeds 44±24 vs 217±134, P<0.003). The length of hospital stay was longer for infants treated with MDO than for those treated with TLA. The rate of complications was similar. Infants with severe airway obstruction related to PRS can benefit safely from either TLA or MDO. Although MDO lengthens the time to discharge, this option stabilizes airway patency of infants with PRS more efficiently and achieves full oral feeding more rapidly than TLA.

Surfactant and non invasive ventilation for preterm infants.

Mechanical ventilation, although life-saving, predisposes preterm infants to BPD. NCPAP emerged as an alternative to invasive ventilation, but it fails in about 30% of infants even when coupled with surfactant therapy. Alternative modes of non invasive ventilation are currently used in neonatology in order to prevent mechanical ventilation. Among these, Synchronized Nasal Intermittent Positive Ventilation (SNIPPV) seems to ensure better results. (www.actabiomedica.it).

Sevoflurane inhalation for severe bronchial obstruction in infants with bronchiolitis.

Bronchiolitis is a lower respiratory tract viral infection which may result in severe bronchial obstruction and respiratory failure despite treatment with beta-adrenergic agonists and glucocorticoids. Here we describe two otherwise healthy infants with severe bronchiolitis whose clinical course was complicated by marked bronchial obstruction and respiratory acidosis refractory to conventional medications (ß-stimulants, anticholinergics and corticosteroids) and non-invasive positive pressure ventilation. Sevoflurane inhalation allowed both infants to attain a sustained, clinical improvement in ventilation and one patient to avoid mechanical ventilation. We suggest that sevoflurane inhalation may be a therapeutic option in the treatment of young infants with severe bronchiolitis who respond poorly to conventional therapy.

[The Outpatient Health Care Package for the very premature infant: application of the program to follow-up services for the Neonatal Intensive Care, Pediatrics Department, Università "La Sapienza" I Facoltà, Roma (June 2008-March 2010)]. / II Pacchetto Ambulatoriale Complesso (PAC) del neonato altamente pretermine: applicazione del programma presso il servizio di follow-up della Terapia Intensiva Neonatale, Dipartimento di pediatria, Università "La Sapienza" I Facoltà, Roma (Giugno 2008-Marzo 2010).

Fifty-nine children were enrolled in the Outpatient Health Care Package (OHCP) from 01/06/2008 to 31/03/2010. All children, except two, attended entirely the follow-up appointments; a satisfactory result, considering also that 30% of family were living outside the urban area and more than a third of the families was originated in a foreign country. At 3 months corrected age(CA) Haemoglobin mean values of 47 infants, all in iron treatment, were: 12.26 (10.1-14-1) g/dL; 25% had values between 10.1 and 12 g/dL. Mean values for Calcium were 10.75 (9.50-15.26) mg/dL Mean values for ALP were 393 (179-1075) UI/L, values >1000 UI/L were found in two infants who suspended Vitamin D treatment. At 3 months CA 50 infants performed ABR, 12 of these showing abnormalities. To date 9 infants repeated ABR at 6-9 months CA, 4 of these showed again abnormal results. Overall were found 4 ABR abnormalities among 47 children (8.5%). Outcome of 23 children at 12 months CA: no moderate or severe neurologic abnormalities were found, 4 children (17.4%) presented mild abnormalities, 2 were referred for rehabilitation. No QSM <80% was found (mean QSM 93.7%) in 10 children evaluated. One child presented growth retardation <5 degrees; 2 underwent laser treatment for ROP with normal vision, 7 (30.4%)had sistolic BP > or = 95 degrees; 6 (26%) were rehospitalized. This experience was positive: OHCP promoted a better compliance and standardization of follow-up. It would be desirable to prolong OHCP until school-age, including renal and cardiac functions monitoring.