Search results for "Pediatric"

Disease manifestations and X inactivation in heterozygous females with Fabry disease

2006

Aim: Fabry disease is an X-linked lysosomal storage disorder characterized by an accumulation of neutral glycosphingolipids in multiple organ systems caused by α-galactosidase A deficiency due to mutations in the GLA gene. The majority of heterozygous females show the characteristic signs and symptoms of the disease, and some of them are severely affected. The current hypothesis for the occurrence of disease manifestations in females is skewed X inactivation favouring the mutant GLA allele. Method: We analyzed the patterns of X inactivation in the leukocytes of 28 biochemically and genetically characterized symptomatic Fabry disease heterozygotes and their correlation with clinical and bioc…

Primary perireticulin amyloidosis in a 14-year-old girl.

1976

A primary perireticulin amyloidosis is reported in a 14-year-old girl, which showed the symptoms of a steroid-resistant nephrotic syndrome. The diagnosis was established by biopsies of kidney and rectum. Occurrence of amyloidosis in childhood and the clinical picture are discussed and references to clinical trials carried out are given.

PReS-FINAL-2088: Risk of severe adverse events in juvenile idiopathic arthritis and pediatric-onset inflammatory bowel disease, treated with anti-tnf…

2013

Introduction: Severe adverse events have been described in children affected by Juvenile Idiopathic Arthritis (JIA) and Inflammatory Bowel Disease (IBD) treated with anti-tnf drugs. Objectives: To define the risk of severe adverse events in patients with JIA and IBD treated with anti-tnf drugs. Methods: This is a retrospective cohort study. All patients with JIA and IBD attending the "IRCCS Burlo Garofolo" of Trieste from 2000 to 2012 were enrolled. They were divided into 2 groups on the basis of the presence or absence of anti-tnf exposure. Severe adverse events were considered the followings: a) infections needing anti-tnf permanent suspension and/or hospitalization; b) autoimmune disease…

Teratoma with a malignant somatic component in pediatric patients: The Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience

2010

Background Teratoma with a malignant somatic component (TMSC) is rare but described in adults, whereas information on pediatric presentation is sparse. Procedure The Associazione Italiana Ematologia Oncologia Pediatrica identified 14 cases of TMSC. Clinical files and pathology specimens were reviewed. Results The series (9 female, 5 male) showed the following disease: testis (2), sacrococcygeal (3), ovary (3), retroperitoneum (3), mediastinum (2), and foot soft tissue (1). Distribution of the somatic component was: carcinoma (4), pancreatic neuroendocrine tumor (1), neuroblastoma (3), rhabdomyosarcoma (3), rhabdomyosarcoma plus liposarcoma, chondrosarcoma, neurogenic sarcoma (1), chondrosar…

Molecular Progression in Unusual Recurrent Non-Pediatric Intracranial Clear Cell Meningioma

2017

We report a case of a recurrent clear cell meningioma (CCM) in the frontal lobe of the brain of a 67-year-old man. The patient developed three recurrences: at 3, 10, and 12 years after his initial surgery. Histopathology observations revealed a grade 2 CCM with positivity for vimentin and epithelial membrane antigen. Expression of E-cadherin was positive only in the primary tumour and in the first available recurrence. Fluorescence in situ hybridization analyses demonstrated 1p and 14q deletions within the last recurrence. Multiplex ligation-dependent probe amplification studies revealed a heterozygous partial NF2 gene deletion, which progressed to total loss in the last recurrence. The las…

Update on perioperative management of the child with asthma

2012

Asthma represents the leading cause of morbidity from a chronic disease among children. Dealing with this disease during the perioperative period of pediatric surgical procedures is, therefore, quite common for the anesthesiologist and other professionalities involved. Preoperative assessment has a key role in detecting children at increased risk of perioperative respiratory complications. For children without an optimal control of symptoms or with a recent respiratory tract infection elective surgery should be postponed, if possible, after the optimization of therapy. According to clinical setting, loco-regional anesthesia represents the desirable option since it allows to avoid airway ins…

Double Hydrodistention Implantation Technique (HIT) in the endoscopic treatment of vesicoureteral reflux

2020

The Secretion of Areolar (Montgomery's) Glands from Lactating Women Elicits Selective, Unconditional Responses in Neonates

2009

Background The communicative meaning of human areolae for newborn infants was examined here in directly exposing 3-day old neonates to the secretion from the areolar glands of Montgomery donated by non related, non familiar lactating women. Methodology/Principal Findings The effect of the areolar stimulus on the infants' behavior and autonomic nervous system was compared to that of seven reference stimuli originating either from human or non human mammalian sources, or from an arbitrarily-chosen artificial odorant. The odor of the native areolar secretion intensified more than all other stimuli the infants' inspiratory activity and appetitive oral responses. These responses appeared to deve…

0133: The Log Book as a new tool for the secondary prevention of coronary artery disease

2016

International audience; IntroductionThe Log book (LB) project was created by a multidisciplinary team of healthcare professionals from a regional care network and aimed to improve secondary prevention (SP) after acute myocardial infarction (MI) in Cote d’Or. LB includes information and advices for increasing self management of risk factors by the patient.MethodsA prospective interventional study on 469 patients hospitalised for an acute MI in the 2 Intensive Coronary Care unit of Côte d’Or (CHU Dijon and Clinique de Fontaine les Dijon) in 2012 and surviving at 1 year follow-up (FU). LB was randomly given at the time of their hospitalisation by the nursing team, also providing oral advices o…

Osmophobia in migraine classification: a multicentre study in juvenile patients.

2010

Aims: This study was planned to investigate the diagnostic utility of osmophobia as criterion for migraine without aura (MO) as proposed in the Appendix (A1.1) of the International Classification of Headache Disorders (ICHD-II, 2004). Methods: We analysed 1020 patients presenting at 10 Italian juvenile headache centres, 622 affected by migraine (M) and 328 by tension-type headache (TTH); 70 were affected by headache not elsewhere classified (NEC) in ICHD-II. By using a semi-structured questionnaire, the prevalence of osmophobia was 26.9%, significantly higher in M than TTH patients (34.6% vs 14.3%). Results: Osmophobia was correlated with: (i) family history of M and osmophobia; and (ii) o…