Search results for "neon"
showing 10 items of 760 documents
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience
2007
This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin…
Prothrombotic State Induced by Middle-Distance Endurance Exercise in Middle-Aged Athletes
2018
AbstractSince the impact of possible prothrombotic factors on blood coagulation resulting from exercise remains elusive, this study investigated the acute effects of middle-distance endurance running on blood coagulation parameters in middle-aged athletes. The study population consisted of 33 male endurance runners who were engaged in a 21.1 km run under competitive conditions. Blood samples were collected before the run, immediately after the run, and 3 hours after run completion. Samples were assessed for activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen, D-dimer, factor VIII (FVIII), von Willebrand factor antigen (VWF:Ag), endogenous thrombin potential (area…
Parental occupational exposure to organic solvents and anencephaly in Mexico
2009
Objective: To assess the relationship between parental occupational exposure to organic solvents, and the risk of anencephaly in Mexico. Methods: A case-control study was conducted based on the registers of the Epidemiological Surveillance System for Neural Tube Defects in Mexico; 151 cases of anencephaly of ≥20 weeks’ gestation were included. A control, born alive and without any apparent congenital malformations at birth, was selected for each case in the same maternity service in which the case was born. Information on occupational exposures, lifestyle habits, reproductive history, use of medicines, supplementation with multivitamins and folic acid, was obtained by a general questionnair…
Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II
2010
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase. It has multisystemic involvement, with manifestations in the brain, upper respiratory tract, heart, abdomen, joints and bones. Bone involvement leads to decreased growth velocity and short stature in nearly all patients. A therapeutic option for patients with MPS II is enzyme replacement therapy (ERT) with idursulfase (Elaprase®). We compared annual growth rates before and during ERT in 18 patients from Mainz, Germany, and Manchester, UK. Group 1 included nine patients who started ERT before 10 years of age; group 2 contained nine patie…
The temperament of preterm infant in preschool age
2010
Abstract Background The study deals with the characteristics of temperament of preterm infants during their preschool age in order to not only investigate likely "difficult or problematic profiles", guided by impairments driven by their preterm birth, but also to provide guidelines for the activation of interventions of prevention, functional to improve the quality of preterm infant's life. Methods The study involved a group of 105 children where 50 preterm children at the average age of 5 years and 2 months, enrolled in preschools of Palermo. The research planned the child reference teachers to be administered a specific questionnaire, the QUIT, made up of 60 items investigating six specif…
De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome
2010
International audience; Interstitial deletions involving the 15q21.1 band are very rare. Only 4 of these cases have been studied using molecular cytogenetic techniques in order to confirm the deletion of the whole FBN1 gene. The presence of clinical features of the Marfan syndrome (MFS) spectrum associated with mental retardation has been described in only 2/4 patients. Here we report on a 16-year-old female referred for suspicion of MFS (positive thumb and wrist sign, scoliosis, joint hyperlaxity, high-arched palate with dental crowding, dysmorphism, mitral insufficiency with dystrophic valve, striae). She had therefore 3 minor criteria according to the Ghent nosology. She also had speech …
A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
2003
Cowden disease, also known as multiple hamartoma syndrome, is a rare disease inherited in an autosomal dominant pattern, which confers a high risk of developing breast and thyroid carcinomas. Mutations in PTEN, a tumor suppressor gene located on chromosome 10q23, have been identified in patients with Cowden disease. In this work, the direct sequencing of all coding regions of the PTEN gene led us to the identification of N48K, a new germline PTEN missense mutation, in a patient suffering from Cowden disease. The genetic analysis of 200 chromosomes from healthy individuals revealed that the variant was not common in our population. Moreover, by functional analysis we found that the ability o…
[A composite indicator for maternity hospital classification].
2018
OBJECTIVES: to propose a composite indicator for maternity hospital classification. DESIGN: descriptive analysis of maternity hospitals through a composite indicator and analysis of its association with infant readmissions within 30 days from the childbirth. SETTING AND PARTICIPANTS: 56 maternity units in Sicily, accounting for 44.436 newborns in 2014. MAIN OUTCOME MEASURES: infant readmission rates within 30 days from the childbirth. RESULTS: low-level hospitals show higher infant readmission rates (odds ratio: 1.3) which may be seen as a signal of inappropriateness of maternity care. CONCLUSIONS: the proposed indicator allows for a classification of maternity hospitals taking into account…
Variations in breastfeeding rates for very preterm infants between regions and neonatal units in Europe: results from the MOSAIC cohort
2010
Abstract: Objectives To compare breastfeeding rates at discharge for very preterm infants between European regions and neonatal units, and to identify characteristics associated with breast feeding using multilevel models. Methods Population-based cohort of 3006 very preterm births (2231 weeks of gestation) discharged home from neonatal units in eight European regions in 2003. Results Breastfeeding rates varied from 19% in Burgundy to 70% in Lazio, and were correlated with national rates in the entire newborn population. Women were more likely to breast feed if they were older, primiparous and European; more premature, smaller and multiple babies or those with bronchopulmonary dysplasia wer…
Complete congenital heart block in autoimmune hepatitis (SLA-positive).
1994
Complete congenital heart block is a serious complication of neonatal lupus erythematosus which most often occurs in children of mothers suffering from connective tissue disease. We report the occurrence of complete congenital heart block associated with autoimmune hepatitis (SLA-positive). A 32-year-old woman was treated for more than 10 years for autoimmune hepatitis (SLA-/ANA-positive) and remained in clinical remission under immunosuppressive therapy. She showed an MHC-haplotype typical for autoimmune hepatitis (A1, B8, DR3). After a normal first pregnancy, an emergency caesarean section was performed in the 32nd week of her second pregnancy because of fetal bradycardia. The child died …