Search results for " pediatria"
showing 10 items of 667 documents
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 …
Sex reversal from functional disomy of Xp: Prenatal and post-mortem findings.
2008
Translocations involving the short arms of the X and Y chromosomes are uncommon and are often associated with anomalies in gonadal development. Segmental duplications of the X chromosome interfere with the formation of the testis in patients with a 46,XY karyotype. The gene products located within the duplicated segment, when present in double dose, may affect on male sex development. We report on a fetus with karyotype 46,XY,der (14)t(X;14) (p10;p10)dn. Attached to chromosome 14 is the entire short arm of the X chromosome. Therefore, the fetus is affected with a disomy of Xp, resulting in complete male to female sex reversal, as well as other structural defects. To the best of our knowledg…
Caring for Infants and Children Following Alternative Dietary Patterns
2017
The number of people that refrain from eating meat has apparently increased. This is due to a variety of factors other than economic constraints or religious concerns, which have long been reasons for such dietetic conduct. Several reasons for adopting diets excluding meat include improved health, concerns regarding animal welfare, the use of antibiotics and hormones in livestock, and the excessive exploitation of environmental resource. Consequently, the number of children whose parents decide to follow alternative diets, such as vegetarian, vegan, macrobiotic, or fruitarian, is also growing. Clinical research regarding adults adopting such diets has expanded, and their nutritional impact …
Prevention of nosocomial infections and surveillance of emerging resistances in NICU
2011
Neonates hospitalized in NICU are at risk for healthcare associated infections because of their poor immune defenses, related to gestational age, colonization of mucous membranes and skin with nosocomial microorganisms, exposure to antibiotics, invasive procedures and frequent contacts with healthcare workers (HCWs). Healthcare associated infections are the major source of morbidity and mortality in NICU in the developed world. Most infections are caused by Gram-positive organisms, fulminant sepsis are often associated to Gram-negative organisms, fungal sepsis occurs frequently in ELBW infants. Hand hygiene is the most important preventive procedure, nevertheless hand hygiene compliance amo…