Search results for "PEDIATRIA"
showing 10 items of 692 documents
Childhood high-risk acute lymphoblastic leukemia in first remission: results after chemotherapy or transplant from the AIEOP ALL 2000 study
2014
The outcome of high-risk (HR) Acute Lymphoblastic Leukemia (ALL) patients enrolled in AIEOP-BFM ALL 2000 study (NCT00613457) in Italy is described. Overall, 1999 Philadelphia negative ALL patients entered the study. HR criteria were: minimal residual disease (MRD) levels ≥10-3 at day 78 (HR-MRD), no complete remission (no-CR) at day 33, t(4;11) translocation, Prednisone Poor Response (PPR). Treatment (2 years) included protocol I, 3 polychemotherapy blocks, delayed intensification (protocol IIx2 or IIIx3), cranial radiotherapy, maintenance. 312 HR patients (15.6% of the total) had 5-year event-free survival (EFS) and overall survival (OS) of 58.9%(SE 2.8) and 68.9%(2.6). In hierarchical ord…
Ischemic hypoxic encephalopathy: The role of MRI of neonatal injury and medico-legal implication
2021
Hypoxic ischemic encephalopathy is one of the major causes of neonatal death and neurological disability in the child, and represents the most common birth injury claim. Intrapartum asphyxia often leads to several long-term sequalae, such as cerebral palsy and/or developmental delay, epilepsy. Through the neuroimaging it's possible to identify and define the different lesioned pictures and provide useful elements to establish the moment in which the damage occurred; indeed, timing of injury is a key element in the legal arena. Magnetic resonance imaging (MRI) is emerging as one of the most important tools in identifying the etiologic of neonatal encephalopathy as well as in predicting long-…
Urinary (1)H-NMR and GC-MS metabolomics predicts early and late onset neonatal sepsis.
2014
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…
A premature infant with Costello syndrome due to a rare G13C HRAS mutation.
2009
Costello syndrome is caused by mutations in the HRAS proto-oncogene whose clinical features in the first year of life include fetal and neonatal macrosomia with subsequent growth impairment due to severe feeding difficulties. We report on a premature male with Costello syndrome due to a rare G13C HRAS mutation and describe his clinical features and evolution during the first year of life. The diagnosis of Costello syndrome may be difficult at birth, especially in very preterm infants in whom feeding difficulties, reduced subcutaneous adipose tissue and failure to thrive are also part of their typical presentation.
The Hikikomori Phenomenon of Social Withdrawal: An Emerging Condition Involving Youth's Mental Health and Social Participation.
2020
The objective of this editorial is to raise awareness on the burden and risks faced by adolescents developing this emerging form of social withdrawal. The hikikomori phenomenon is part of the group of new morbidities causing children and adolescents to limit their activity owing to a chronic health condition with attendant psychological problems. We further emphasize the importance of including new morbidities involving mental health and social participation in formal pediatric training, to enable new generations of pediatricians to identify and properly manage these disorders.
Fibrosarcoma in pediatric patients: Results of the Italian Cooperative Group Studies (1979-1995)
2001
Background and Objectives Fibrosarcoma is a rare soft tissue sarcoma (STS) that has two peaks of incidence in pediatric patients: one in infants and young childern (infantile fibrosarcoma), another in older children (“adult type” fibrosarcoma). The purpose of this study was to describe the clinical features and the treatment results in patients affected by fibrosarcoma enrolled in two consecutive studies run by the STS-Italian Cooperative Group (ICG) between 1979 and 1995. Patients and Methods Twenty-five evaluable patients were grouped according the intergroup rhabdomyosarcoma staging (IRS) system: 12 Gr I, 5 Gr II, 8 Gr III. The cut-off point between the two forms was considered the age o…
14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosenc…
2011
Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a phenotype within the holoprosencephaly (HPE) spectrum. Previous studies suggested the HPE8 region as a candidate locus for HPE at 14q13. We report an adolescent with a 14q13.1q21.1 deletion encompassing the HPE8 region associated with intellectual disability (ID), bilateral microphthalmia, and coloboma, without cerebral anomalies typical of HPE. Except for ocular defects (i.e., microphthalmia, coloboma) consistent with HPE-type anomalies, the minor facial dysmorphia was not suggestive for HPE and the absence of cerebral anomalies sho…
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
2008
When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This …
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), chondro…
Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study.
2019
Objective-The aim of the study is to evaluate the compliance rate to secondary prophylaxis and the presence of Rheumatic Heart Disease (RHD) in a cohort of Italian patients with Acute Rheumatic Fever (ARF). Methods-This is a multicentre retrospective study. Patients were divided into two groups according to the presence or absence at last follow-up of RHD. Clinical features, ARF recurrences and the rate of compliance to secondary prophylaxis were evaluated. Results-wo hundred and ninety patients were enrolled (137 females, 153 males). Carditis at onset was present in 244 patients (84.7%). At the end of follow-up, 173 patients showed RHD. Adherence to secondary prophylaxis was low in 26% of …