Search results for "and Child Health"
showing 10 items of 1781 documents
Development and testing of new screening method for keratan sulfate in mucopolysaccharidosis IVA.
2004
Mucopolysaccharidosis IVA (MPS IVA), a progressive lysosomal storage disease, causes skeletal dysplasia through excessive storage of keratan sulfate (KS). We developed an ELISA-sandwich assay that used a MAb specific to KS. Forty-five blood and 59 urine specimens from MPS IVA patients (ages 1–65 y) were analyzed to determine whether KS concentration is a suitable marker for early diagnosis and longitudinal assessment of disease severity. Blood specimens were obtained from patients categorized as phenotypically severe (n = 36) and milder (n = 9). Urine specimens were also analyzed from patients categorized as severe (n = 56) and milder (n = 12), respectively. Blood KS levels (101–1525 ng/mL)…
A novel L1CAM mutation in a fetus detected by prenatal diagnosis
2010
X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule (L1CAM) gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. We report on a familial case diagnosed by prenatal ultrasonographic examination, with cerebellar hypoplasia, agenesis of the corpus callosum, and the bilateral overlapping of the second and third fingers of the hand. Sequencing of the L1CAM gene showed a novel missense mutation in exon 14: transition of a guanine to cytosine at position 1777 (c.1777G > C), which led to an amino acid change of alanine to proline at position 593 (Ala593Pro) in the sixth immunoglobulin …
Liver disease as risk factor for cystic fibrosis-related diabetes development
2007
Aim: To evaluate clinical and genetic factors, besides pancreatic insufficiency, associated with increased risk of cystic fibrosis-related diabetes. Methods: Case-control (1:1) study on 138 cystic fibrosis patients. Data were collected on gender, age at diagnosis, reason for cystic fibrosis diagnosis, family history of type 1 or 2 diabetes mellitus, pre-existing severe liver disease, and class of cystic fibrosis transmembrane regulation mutation. Moreover, information was obtained on lung involvement and degree of exocrine pancreatic insufficiency evaluated 1 year before the diagnosis of cystic fibrosis-related diabetes in patients and age-matched controls. Results: Compared to controls, pa…
The Cohort of Long-term Survivors at the German Childhood Cancer Registry
2008
Background With the increasing number of long-term survivors among patients diagnosed with cancer during childhood, questions concerning late effects have become a major research topic. To ascertain late effects, it is necessary to contact former patients. An essential requirement for such studies is a long-term surveillance (LTS) of former childhood cancer patients in their adolescence and their adulthood. The paper describes the role of the German Childhood Cancer Registry (GCCR) in LTS. A cohort of long-term survivors has been built up over the years. The characteristics of this LTS cohort and strategies for further improvement of LTS will be presented. Patients and methods Since 1980 th…
Radiation risks knowledge in resident and fellow in paediatrics: a questionnaire survey
2015
Background: Analyse through a multi-choice anonymous questionnaire the knowledge's level in paediatric residents and fellows in two different main Italian hospital, looking mainly to the information to patients and relatives related to risks of ionizing radiation used in common radiological investigations in children. Methods: 65 multi choice questionnaires were distributed to paediatric residents and fellows of two different hospitals, an University Hospital (A.O.U.P. "P. Giaccone"- University of Palermo) and a national reference centre for paediatrics (Ospedale Pediatrico Bambino Gesù - Rome). The questionnaire included twelve multiple-choice questions with the aim of analyzing the knowle…
Impact of lactation stage, gestational age and mode of delivery on breast milk microbiota.
2014
There is an increasing evidence of the immunological role of breast milk (BM) microbiota on infant health. This study aims to analyze several determining factors of milk microbiota. A total of 96 milk samples from 32 healthy mothers (19 preterm vs 13 at term gestations; and 15 vaginal deliveries vs 17 Cesarean sections) were longitudinally collected. Microbiota composition was studied by quantitative PCR and the influence of lactation stage, gestational age and delivery mode was evaluated. Globally, Lactobacillus, Streptococcus and Enterococcus spp. were the predominant bacterial groups. Total bacteria, Bifidobacterium and Enterococcus spp. counts increased throughout the lactation period. …
Preterm birth: seven-year retrospective study in a single centre population
2019
Preterm birth is a health and social problem, considered the leading cause of neonatal mortality worldwide. It is associated with higher rates of neurodevelopmental morbidity, sensorineural impairments and other complications. The aim of the study was to describe the incidence and the major risk factors associated with preterm birth. METHODS: We performed a single center, observational and retrospective Cohort study in the Division of Obstetrics and Gynaecology, University Hospital "G. Martino", Messina. Clinical records of all pregnant women who delivered from 1st January 2010 to 31 of December 2016 were collected. RESULTS: In the 7 years considered, a total of 7954 pregnant women were inc…
The negative predictive value of cervical interleukin-6 for the risk assessment of preterm birth.
2013
To determine the potential clinical use of cervical interleukin-6 (IL-6) as a negative predictor of preterm birth in symptomatic women.Observational prospective study carried out in a tertiary hospital.We studied 100 singleton pregnant women with threatened preterm delivery and intact membranes, between 24 and 34 weeks, recruited during the period 2006-2008. A cervical swab for IL-6 detection was taken and a transvaginal ultrasound scan was performed for measuring the cervical length.Five women delivered within 2 d and six women within 7 d. A high cervical IL-6 concentration was found in these women. The area under the ROC curve for cervical IL-6 was 0.97 for deliveries within 2 d after the…
A European survey of management approaches in chronic urticaria in children: EAACI Paediatric Urticaria Taskforce
2021
Background: Although well described in adults, there are scarce and heterogeneous data on the diagnosis and management of chronic urticaria (CU) in children (0-18 years) throughout Europe. Our aim was to explore country differences and identify the extent to which the EAACI/GA²LEN/EDF/WAO guideline recommendations for paediatric urticaria are implemented. Methods: The EAACI Taskforce for paediatric CU disseminated an online clinical survey among EAACI paediatric section members. Members were asked to answer 35 multiple choice questions on current practices in their respective centres. Results: The survey was sent to 2,773 physicians of whom 358 (13.8%) responded, mainly paediatric allergist…
Basilar Artery Occlusion and the Dense Artery Sign in the Newborn
1998
A child with basilar artery occlusion in the neonatal period is reported. The occlusion was documented by unenhanced computed tomography performed in the neonatal period demonstrating a “dense” artery at the tip of the basilar artery. The pattern of cerebral damage on MRI scan at 10 years of age confirmed the site of the vascular occlusion. The evidence suggests that embolization was the operating pathogenic mechanism of cerebral vascular occlusion. Neonatal arterial thrombosis involving the carotid circulation has been well documented and may be due to many pathological factors including direct trauma to the carotid artery and embolization from remote sites. Thrombosis of the vertebral art…