Search results for "perinatology and child health"
showing 10 items of 1747 documents
The Burden of Pediatric Asthma
2018
Asthma is the most common chronic disease in children, imposing a consistent burden on health system. In recent years, prevalence of asthma symptoms became globally increased in children and adolescents, particularly in Low-Middle Income Countries (LMICs). Host (genetics, atopy) and environmental factors (microbial exposure, exposure to passive smoking and air pollution), seemed to contribute to this trend. The increased prevalence observed in metropolitan areas with respect to rural ones and, overall, in industrialized countries, highlighted the role of air pollution in asthma inception. Asthma accounts for 1.1% of the overall global estimate of "Disability-adjusted life years" (DALYs)/100…
Disease manifestations and X inactivation in heterozygous females with Fabry disease
2006
Aim: Fabry disease is an X-linked lysosomal storage disorder characterized by an accumulation of neutral glycosphingolipids in multiple organ systems caused by α-galactosidase A deficiency due to mutations in the GLA gene. The majority of heterozygous females show the characteristic signs and symptoms of the disease, and some of them are severely affected. The current hypothesis for the occurrence of disease manifestations in females is skewed X inactivation favouring the mutant GLA allele. Method: We analyzed the patterns of X inactivation in the leukocytes of 28 biochemically and genetically characterized symptomatic Fabry disease heterozygotes and their correlation with clinical and bioc…
Primary perireticulin amyloidosis in a 14-year-old girl.
1976
A primary perireticulin amyloidosis is reported in a 14-year-old girl, which showed the symptoms of a steroid-resistant nephrotic syndrome. The diagnosis was established by biopsies of kidney and rectum. Occurrence of amyloidosis in childhood and the clinical picture are discussed and references to clinical trials carried out are given.
PReS-FINAL-2088: Risk of severe adverse events in juvenile idiopathic arthritis and pediatric-onset inflammatory bowel disease, treated with anti-tnf…
2013
Introduction: Severe adverse events have been described in children affected by Juvenile Idiopathic Arthritis (JIA) and Inflammatory Bowel Disease (IBD) treated with anti-tnf drugs. Objectives: To define the risk of severe adverse events in patients with JIA and IBD treated with anti-tnf drugs. Methods: This is a retrospective cohort study. All patients with JIA and IBD attending the "IRCCS Burlo Garofolo" of Trieste from 2000 to 2012 were enrolled. They were divided into 2 groups on the basis of the presence or absence of anti-tnf exposure. Severe adverse events were considered the followings: a) infections needing anti-tnf permanent suspension and/or hospitalization; b) autoimmune disease…
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), chondrosar…
Epidemiology of pneumococcal disease in children in Germany
2001
UNLABELLED Recently published and as yet unpublished data allow a reasonable estimate of the annual burden of pneumococcal disease in Germany. At least 277,000 episodes of otitis media and at least 2,000 episodes of sinusitis occur in children under the age of 5 y. Pneumococcal meningitis was found in 200 children under the age of 16 y; the estimate for all age groups ranges from 450 to 1100 cases. Of approximately 150,000 cases of ambulatory pneumococcal pneumonia, at least 63,000-105,000 patients are hospitalized each year. CONCLUSION Further studies of pneumococcal epidemiology in Germany are needed, and continued surveillance will be necessary for a better understanding of the overall b…
Does Oxygen Content Play a Role in Spontaneous Closure of Perimembranous Ventricular Septal Defects?
2021
(1) Background: the impact of a series of laboratory parameters (haemoglobin, haematocrit, foetal haemoglobin, peripheral oxygen saturation, iron, transferrin, ferritin, and albumin) on perimembranous ventricular septal defects spontaneous healing was tested. (2) Methods: one hundred and seven patients were enrolled in the study (57% males; mean age 2.1 ± 0.4 years) and were subsequently subdivided into two groups: self-healing (n = 36) and in need of intervention (n = 71). Self-healing subjects were defined on the basis of an absence of residual shunts at colorDoppler across the previous defect. (3) Results: no statistically significant differences were reported in the size of perimembrano…
Goitrous congenital hypothyroidism in a twin pregnancy causing respiratory obstruction at birth: Implications for management
2006
We report a twin pregnancy complicated by fetal goitrous hypothyroidism secondary to dyshormonogenesis caused by thyroglobulin deficiency. Antenatal treatment with intra-amniotic thyroxine was considered but not performed, given the late gestational age at diagnosis and the multiple nature of the pregnancy. Both twins developed airway obstruction at delivery, requiring intubation and ventilation. We review the literature and describe the practical issues relating to the antenatal assessment and perinatal management of fetal goitre.
Nonketotic hyperglycinemia and epilepsy
2015
Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error in the glycine degradation pathway resulting in severe neurological impairment with intractable seizures and brain damage in the majority of the affected patients. Depending on the age of onset and on the outcome of the disease, severe and attenuated forms of NKH may be discriminated. During neonatal period, patients may present with early myoclonic encephalopathy; in the course of the disease, the picture of seizures changes, and multiple forms of seizures may occur. In patients with severe NKH, seizures remain persistent and resistant to anticonvulsant treatment. Variant NKH, caused by mutations resulting in a deficie…
987 Emipediology and Morbidity of Late Preterm Neonates in Correlation with Maternal Risk Factors in Hessen, Germany
2012
Short and long term morbidity in late preterm neonates (LP) and their correlation to maternal risk factors are relevant as shown in multiple studies in North America and European countries. Epidemiological studies showed an increase in LP birth over time. Corresponding data for Germany have not yet been published. Our goal was to evaluate the epidemiology of LP over a 7 year period and the correlation to potential maternal risk factors in Hessen, Germany. Data was collected from the perinatal und neonatal quality assurance in Hessen form 2001 to 2007. For some calculations the two data sets were merged. Overall the data sets of 360.000 births and 44.000 neonatal hospitalizations were availa…