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Morini F.,Bambino Ges Childrens Research Hospital | Iacobelli B.D.,Bambino Ges Childrens Research Hospital | Crocoli A.,Bambino Ges Childrens Research Hospital | Bottero S.,Bambino Ges Childrens Research Hospital | And 3 more authors.
Journal of Pediatrics | Year: 2011

Objectives: To describe the prevalence and pathogenesis of symptomatic vocal cord paresis/paralysis (VCP) in patients treated for esophageal atresia (EA), tracheo-esophageal fistula (TEF) or both. Study design: Retrospective study of all patients treated for EA/TEF in our center (1995 to 2009). Patients with and without symptomatic VCP were compared for gestational age, birth weight, associated anomalies, referrals, long-gap EA (>3cm or 3 vertebral bodies), cervical esophagostomy, anastomotic leakage, length of ventilation, and major cardiac surgery. Prevalence or median (IQR) is reported. Results: Of 174 patients, 7 (4%) had symptomatic VCP. Prevalence of referrals (5/7 versus 21/167; P = .0009), long gap (5/7 versus 41/167; P = .0146), previous cervical esophagostomy (5/7 versus 7/167; P < .0001), and anastomotic leakage (3/7 versus 10/167; P = .0097) was higher, and ventilation longer (8.5 days [7.0 to 15.5] versus 6.0 days (5.0 to 7.0); P = .0072) in patients with VCP. Conclusions: In infants treated for EA/TEF, VCP should be ruled out in case of persistent respiratory morbidity or, when present, cautiously monitored. Surgical risk factors should be actively controlled. Further studies are needed to define the prevalence of acquired and congenital VCP in patients with EA/TEF. Copyright © 2011 Mosby Inc. All rights reserved.

Semeraro M.,Bambino Ges Childrens Research Hospital | Muraca M.,Bambino Ges Childrens Research Hospital | Catesini G.,Bambino Ges Childrens Research Hospital | Inglese R.,Bambino Ges Childrens Research Hospital | And 6 more authors.
Clinica Chimica Acta | Year: 2015

Pipecolic acid (PA) is an important biochemical marker for the diagnosis of peroxisomal disorders. PA is also a factor responsible for hepatic encephalopathy and a possible biomarker for pyridoxine-dependent seizures. We developed an easy and rapid PA quantification method, by high-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS), requiring no derivatization and applicable to small sample volumes.Plasma (100μl) is extracted with 500μl acetonitrile (ACN) containing 2μmol/l [2H5]-phenylalanine as internal standard, vortexed and centrifuged. The supernatant is analyzed by HPLC-MS/MS in positive-ion mode using multiple reaction monitoring scan type. HPLC column is a Luna HILIC (150×3.0mm; 3μ 200A): Buffer A: ammonium formate 5mmol/l; Buffer B: ACN/H20 90:10 containing ammonium formate 5mmol/l. PA retention time is 4.86min.Recovery was 93.8%, linearity was assessed between 0.05 and 50μmol/l (R2=0.998), lower limit of detection was 0.010μmol/l and lower limit of quantification was 0.050μmol/l. Coefficient of variation was 3.2% intra-assay and 3.4% inter-assay, respectively.Clinical validation was obtained by comparing PA plasma values from 5 patients affected by peroxisomal disorders (mean, 23.38. μmol/l; range, 11.20-37.1. μmol/l) to 24 ages related healthy subjects (mean, 1.711. μmol/l; range, 0.517-3.580. μmol/l). © 2014 Elsevier B.V.

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