Monitoring neonatal fungal infection with metabolomics

Abstract The objective of our study was to evaluate the capability of the metabolomics approach to identify the variations of urine metabolites over time related to the neonatal fungal septic condition. The study population included a clinical case of a preterm neonate with invasive fungal infection and 13 healthy preterm controls. This study showed a unique urine metabolic profile of the patient affected by fungal sepsis compared to urine of controls and it was also possible to evaluate the efficacy of therapy in improving patient health.

Utilizzo dei latti speciali: uso ed abuso.

Le insidie dell'orticaria cronica: dall'iter diagnostico condiviso alle strategie terapeutiche

Generalized anasarca as way of presentation of severe protein losing enteropathy.

Urinary (1)H-NMR and GC-MS metabolomics predicts early and late onset neonatal sepsis.

The purpose of this article is to study one of the most significant causes of neonatal morbidity and mortality: neonatal sepsis. This pathology is due to a bacterial or fungal infection acquired during the perinatal period. Neonatal sepsis has been categorized into two groups: early onset if it occurs within 3-6 days and late onset after 4-7 days. Due to the not-specific clinical signs, along with the inaccuracy of available biomarkers, the diagnosis is still a major challenge. In this regard, the use of a combined approach based on both nuclear magnetic resonance (H-1-NMR) and gas-chromatography-mass spectrometry (GC-MS) techniques, coupled with a multivariate statistical analysis, may hel…

Duodenal Giardiasis: a diagnosis we should not neglect

ADOLESCENTI CON SINDROME DI TURNER E MENARCA SPONTANEO: CORRELAZIONE CON CARIOTIPO, PARAMETRI ORMONALI E IMAGING PELVICA

Milk intolerance: a big trouble for little patients.

Addison Disease and Atrophic Gastritis: High Persistent ACTH Levels Although an Adequate Treatment

The predictive role of pelvic magnetic resonance in the follow up of spontaneous or induced puberty in turner syndrome

Abstract Puberty is a critical age for patients with Turner syndrome (TS): infertility is reported to be linked to karyotype and spontaneous puberty and menarche occur in approximately 30% of patients, especially in mosaicism. However, it is not always predictable considering hormonal pattern and pelvic transabdominal ultrasound scan (US). The aim of the study is to compare the accuracy of Magnetic Resonance Imaging (MRI) and US to evaluate uterine and gonads volume, to visualize the presence of follicles and to predict spontaneous puberty and menarche in girls with TS. In a retrospective study, we evaluated 19 TS patients (age: 9–16 years), who underwent transabdominal pelvic US and pelvic…

LA RMN NEL FOLLOW UP DELLA FUNZIONALITA’ GONADICA NELLE ADOLESCENTI CON S. DI TURNER

Interstitial deletion of chromosome 2p15-16.1: Report of two patients and critical review of current genotype–phenotype correlation

Abstract We report two individuals with developmental delay and dysmorphic features, in whom array-based comparative genomic hybridization (array CGH) led to the identification of a 2p15p16.1 de novo deletion. In the first patient (Patient 1) a familial deletion of 6q12, inherited from her father, was also detected. In the second patient (Patient 2) in addition to the 2p15p16.1 microdeletion a de novo deletion in Xq28 was detected. Both individuals shared dysmorphic features and developmental delay with the six reported patients with a 2p15p16.1 microdeletion described in medical literature. Conclusion: in the first patient a 642 kb 2p16.1 deletion (from 60.604 to 61.246 Mb), and a 930 kb 6…

Bronchiectasis In Metaphyseal Acroscyphodysplasia With Cone-Shaped Epiphyses (Bellini Disease): A Five Years Follow Up

We present an adolescent with Metaphyseal acroscyphodysplasia (Bellini disease), characterized by severe short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis with cone-shaped epiphyses, short hands and feet, dental malocclusion. She presented chronic respiratory infections, with secondary bronchiectasis in the course of the follow up. This is the first case reported in literature of a patient with this extremely rare metaphyseal dysplasia, the Bellini disease, associated with bronchiectasis.

Follow up auxologico, BMI ed assetto endocrino in bambini con ipotiroidismo congenito: esperienza della clinica pediatrica di Palermo

IBD does not always travel alone.

Pelvic magnetic resonance imaging in Turner syndrome.

Background: Adolescents with Turner Syndrome (TS) live a difficulty related to the prospective to have spontaneous pubertal development and menarche as well as to their future fertility. These questions have relevant psychological-therapeutic implications on clinical and endocrine follow-up and represent critical points in the TS management. Some patients have spontaneous menarche and do not need estroprogestinic replacement in the first years of adolescence. This evolution is not always predictable on the basis of hormonal pattern and echographic imaging, while it is described in patients with mosaicism. Methods: We studied 17 patients with TS, age: 9-16 years, caryotype 45,X in 9 patients…

Urinary metabolomics of bronchopulmonary dysplasia (BPD): preliminary data at birth suggest it is a congenital disease

Abstract Objective: Bronchopulmonary dysplasia (BPD) or chronic lung disease is one of the principal causes of mortality and morbidity in preterm infants. Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications. The trigger cause of the disease comprehends the impairment of the alveolar development and the increased angiogenesis. Nevertheless, the molecular pathways characterizing the disease are still unclear. Therefore, the use of the metabolomics technique, due to the capability of identifying instantaneous metabolic perturbation, might help to recognize metabolic patterns associated with the cond…

855 Double Blind Placebo Controlled Food Challenge Useful to Disconfirm Over Estimated Diagnosis of Cmpa in Children

Background and aims: The incidence of CMPA in infancy seems to be approximately 3%. In Italy diagnosis of CMPA is often over estimated. The double-blind, placebo controlled food challenge(DBPCFC) is widely considered as the “gold standard” for the diagnosis of food allergy. Methods: 14 patients, (12 months-12 yrs) previously diagnosed as having CMPA, underwent our diagnostic algorithm in order to confirm or to exclude diagnosis. Diagnostic algorithm includes: total blood cell count, serum IgE assay, RAST, betalactotest, Prick by prick with fresh milk, chemical examination and eosinophilic cell count of the stools. DBPCFC was performed with extensively hydrolyzed formula (as placebo) VS a la…