Search results for " preschool"
showing 10 items of 2099 documents
Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.
2005
Abstract Background In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. Aims To evaluate a possible correlation between TNFα, IFNγ and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods Single nucleotide polymorphisms of TNFα (−308G → A promoter region), IFNγ (+874T → A promoter region) and IL-10 (−1082G → A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease–Down syndrome patients. Results The 10 coeliac disease–D…
Gastroesophageal reflux in young children treated for esophageal atresia: evaluation with pH-multichannel intraluminal impedance
2011
Objectives: Gastroesophageal reflux (GER) and dismotility occur frequently after repair of esophageal atresia (EA). GER-associated complications can manifest either early or later; then precocious diagnosis and treatment are essential. The aim of the study was to evaluate characteristics of GER and esophageal clearance in children treated for EA with distal tracheoesophageal fistula, using pH-multichannel intraluminal impedance (pH-MII). Patients and Methods: Twenty-two children (ages 3‐40 months) treated for EA at birth, and 20 normal children of similar age with suspected GER disease were included in the study. Impedance parameters were analyzed according to age and symptoms. Results: Ref…
Clinical and ultrastructural observations of maturing human frontal cortex. Part I (Biopsy material of hydrocephalic infants).
1988
Three of 30 human cerebral cortex biopsies from infants treated for hydrocephalus by shunt operation are described. The descriptions include an account of their case history, the clinical methods, and the operational procedures. The biopsy specimens were studied in semithin and ultrathin sections. Attention is drawn to normal synapse formation but also to neuronal degenerative changes due to hydrocephalus.
Parvovirus B19-Associated Microvesicular Eruption
2015
We report on a 3-year-old girl with a microvesicular generalized rash in whom primary infection by parvovirus B19 was demonstrated by seroconversion. To our knowledge, this is the first instance of an eruption arising from parvovirus B19 with this peculiar clinical pattern.
A coronary right fistula canalized in a small accessory right atrial chamber.
2007
The coronary artery fistulas are rare congenital anomalies with a very low incidence. These can be symptomatic or asymptomatic because the hemodynamic consequences of the fistula vary and depend on the shunt dimensions. Discordant opinions instead are present in the literature for the defect closing in asymptomatic patients. Here, we describe a patient affected by a coronary right fistula canalized in a small accessory right atrial chamber. During follow-up, we observed a progressive dilatation of the right coronary artery (maximum diameter 10.3 mm) with hemodynamic overload of the right sections.
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A…
2006
Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann–Pick disease type A/B) and Niemann–Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children ≤ 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693–20982) in Gaucher disease (GD); 78…
Immune status towards Epstein-Barr virus in a group of Sicilian children.
1989
The prevalence of antibodies to Epstein-Barr virus-determined antigens was studied in 17 children with acute infectious mononucleosis (IM) and in 263 children hospitalized for diseases unrelated to EBV infection. Antibodies against Epstein-Barr viral capsid antigens (VCA) were observed in 173 patients of the control group (66%), but 58 of them (33,5%) had not yet developed antibodies against Epstein-Barr virus-associated nuclear antigen (EBNA). IgM-specific antibodies were not found in any of the children of the control group but were present in all of the 17 patients with IM. The rates of positivity for IgA anti-VCA and IgG anti-early antigen (EA) were similar in all age groups. Anti-viral…
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
2011
Poikiloderma occurs in a number of hereditary syndromes, the best known of which is Rothmund-Thomson syndrome (RTS). Differential diagnoses include Dyskeratosis Congenita (DC) with high genetic heterogeneity and Clericuzio-type Poikiloderma with Neutropenia (CPN) due to mutations in the C16orf57 gene. Mutations in the RECQL4 gene are only observed in two thirds of RTS patients. In this study, 10 patients referred for syndromic poikiloderma and negative for RECQL4 sequencing analysis were investigated for C16orf57 mutations. Two C16orf57 heterozygous nonsense mutations (p.W81X and p.Y89X) were identified in a 5-year-old female child presenting with generalized poikiloderma, dental dysplasia,…
Continent urinary diversion and bladder augmentation in children: the Mainz pouch procedure.
1989
The formation of a bowel reservoir of large capacity at low pressure by using small and large bowel (ileocaecal segment) has proved reliable for achieving continent urinary diversion (n = 80), for bladder augmentation (n = 42) as well as for total bladder replacement (n = 24). Encouraged by the results we obtained in our adult patients, we have used this technique during the last 3.5 years in 29 children. Indications for urinary diversions in children have been: neurogenic bladder with diplegia (n = 8), bladder exstrophy (n = 2), traumatic loss of the bladder (n = 1), urogenital sinus (n = 1) and rhabdomyosarcoma of the prostate or bladder (n = 2). Bladder augmentation was indicated in 6 ch…
Clinical evaluation and treatment of acute asthma exacerbations in children
2009
This update on treatment of asthma exacerbations in children is the result of an Italian Pediatric Society Task-force, made up of a panel of experts working in 2007–2008. The aim is to give clear indications on the use of the drugs most employed in children, grading the quality of evidence and the strength of recommendations. Suggestions on their limits due to unlicensed and off-label use are reported. The level of evidence and the strength of recommendations for different therapeutic approaches demonstrate that frequently the use of drugs in children is extrapolated from the experience in adults and that more studies are required to endorse the correct use of different drugs in asthmatic …