Search results for "Abnormalities"
showing 10 items of 638 documents
Subclinical executive function impairment in children with asymptomatic, treated phenylketonuria: A comparison with children with immunodeficiency vi…
2018
In this study we compared the neuropsychological profile of phenylketonuria (PKU) and human immunodeficiency virus (HIV) to examine the specificity of the executive function (EF) impairment reported in these two patologies. A total of 55 age-matched children and adolescents were assessed, including 11 patients with PKU, 16 patients with HIV and 28 healthy controls, underwent a neuropsychological assessment. Although neither the PKU nor the HIV group scored below the normative ranges, both groups showed lower scores in neuropsychological tests engaging EFs than controls. In addition, compared to patients with PKU the HIV group performed significantly worse in the Trail-Making Test A, Corsi S…
Efficacy and safety of Wilate in paediatric VWD patients under 6 years of age - results of a prospective multicentre clinical study including recover…
2013
Treatment with exogenous von Willebrand factor (VWF) is indicated in patients with von Willebrand disease (VWD) in whom treatment with 1-deamino-8-d-arginine vasopressin/desmopressin is contraindicated. Wilate is a new generation plasma-derived concentrate of native VWF and coagulation factor VIII (FVIII) (in a physiological 1:1 ratio) developed for the treatment of VWD. This is the first study to report safety, efficacy and in vivo recovery (IVR) data from 15 paediatric patients less than 6 years of age who received Wilate for either prophylaxis, on-demand treatment or for treatment in surgical procedures during a prospective open-label trial (VWD type 1: 5, type 2A: 1, type 2B: 2, type 3:…
Hospitalization rates for intussusception in children aged 0–59 months from 2009 to 2014 in Italy
2017
The real cause of intussusception is not fully understood and a variety of conditions have been associated with it (Meckel diverticulum, polyps, duplication cysts, parasites, Henoch-Schönlein purpura, cystic fibrosis, hemolytic-uremic syndrome and infectious gastroenteritis). Furthermore few European countries, following WHO recommendation to monitor baseline incidence of intussusception before implementation of immunization program for rotavirus, used intussusception rate as a baseline value to compare the same figures in the period before and after introduction of vaccination. In this study, data of intussusception hospitalizations occurred among Italian children aged 0 through 59 months …
Cumulative incidence rates of the mucopolysaccharidoses in Germany
2005
In order to estimate the cumulative incidence rates of the mucopolysaccharidoses (MPS) in Germany, a retrospective epidemiological survey covering the period between 1980 and 1995 was implemented. Multiple ascertainment sources were used to identify affected patients. A prevalence of approximately 0.69 cases per 100,000 births was obtained for MPS I (Hurler phenotype). Within the study period, 4 patients with Hurler/Scheie phenotype and 7 cases with Scheie disease were detected. The cumulative incidence for MPS II (Hunter syndrome) was estimated as 0.64 cases per 100,000 births (1.3 cases per 100,000 male live births); that for MPS III (Sanfilippo syndrome types A, B and C) as 1.57 cases in…
Contribution of Large Genomic Rearrangements in Italian Lynch Syndrome Patients: Characterization of a Novel Alu-Mediated Deletion
2012
Lynch syndrome is associated with germ-line mutations in the DNA mismatch repair (MMR) genes, mainlyMLH1andMSH2. Most of the mutations reported in these genes to date are point mutations, small deletions, and insertions. Large genomic rearrangements in the MMR genes predisposing to Lynch syndrome also occur, but the frequency varies depending on the population studied on average from 5 to 20%. The aim of this study was to examine the contribution of large rearrangements in theMLH1andMSH2genes in a well-characterised series of 63 unrelated Southern Italian Lynch syndrome patients who were negative for pathogenic point mutations in theMLH1,MSH2, andMSH6genes. We identified a large novel delet…
2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.
2015
Elevated fetal hemoglobin (HbF) ameliorates the clinical severity of hemoglobinopathies such as β-thalassemia and sickle cell anemia. Currently, the only curative approach for individuals under chronic transfusion/chelation support therapy is allogeneic stem cell transplantation. However, recent analyses of heritable variations in HbF levels have provided a new therapeutic target for HbF reactivation: the transcriptional repressor BCL11A. Erythroid-specific BCL11A abrogation is now actively being sought as a therapeutic avenue, but the specific impact of such disruption in humans remains to be determined. Although single nucleotide polymorphisms in BCL11A erythroid regulatory elements have …
Aplasia of the retinal vessels combined with optic nerve hypoplasia, neonatal epileptic seizures, and lactic acidosis due to mitochondrial complex I …
1992
A newborn male with mitochondrial complex I deficiency suffered from neonatal epileptic seizures, which later developed into infantile spasms. The infant was blind due to aplasia of the retinal vessels and hypoplasia of the optic nerve. There was congenital lactic acidosis, which persisted in later life. The boy was microcephalic and retarded. Muscular hypotonia later shifted to spasticity. Succinic acid was increased in urine. We assume that the aplasia of the retinal vessels is due to damage of the retinal ganglion cells caused by the mitochondrial disease in the first 3 to 4 months of pregnancy.
Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study
2021
Abstract Background Charcot-Marie-Tooth disease (CMT) is a rare, chronic, progressive motor and sensory neuropathy that affects the peripheral nervous system, leading to progressive, predominantly distal muscle weakness, atrophy, sensory loss and progressive limb dysfunction. As with many rare diseases, there is a lack of patient-reported data with which to understand and address patient needs. This study aims to explore the real-world impact of CMT from the patient perspective. Methods This is a prospective, digital lifestyle study of at least 2,000 people with CMT, >18 years, resident in the following countries: France, Germany, Italy, Spain, the UK and the USA. Participants will be re…
ABO Blood Group and Inhibitor Risk in Severe Hemophilia A Patients: A Study from the Italian Association of Hemophilia Centers
2021
AbstractConsidering the profound influence exerted by the ABO blood group system on hemostasis, mainly through the von Willebrand factor and factor VIII (FVIII) complex, we have conducted a study evaluating the possible role of blood type on the risk of inhibitor development in hemophilia A. A total of 287 consecutive Caucasian patients with severe hemophilia A (202 without FVIII inhibitors and 85 with FVIII inhibitors) followed at seven Italian Hemophilia Treatment Centers belonging to the Italian Association of Hemophilia Centers (AICE) were included in the study. A higher prevalence of O blood group was detected in patients without inhibitors as compared in inhibitor patients (55 vs. 30.…
The risk of recurrent cardiovascular events in patients with increased plasma homocysteine levels is reduced by short but not long-term therapy with …
2006
Hyperhomocysteinemia is considered an independent risk factor for atherosclerosis, atherothrombosis and Venous ThromboEmbolism (VTE) [1], [2] and [3]. Normal total plasma homocysteine concentrations range from 5 to 15 μmol/L in the fasting state. Hyperhomocysteinemia is classified as moderate (homocysteine concentration, 15 to 30 μmol/L), intermediate (> 30 to 100 μmol/L), and severe (> 100 μmol/L) on the basis of concentrations measured during fasting. Although severe hyperhomocysteinemia is rare, mild hyperhomocysteinemia occurs in approximately 5% to 7% of the general population. In this case, patients are typically asymptomatic until the third or fourth decade of life when premature Cor…