Search results for "perinatology"
showing 10 items of 1762 documents
Genetic risk profiles for a childhood with severely overweight
2013
Summary What is already known about this subject Genome-wide association studies have identified susceptibility loci, conferring only small effects to obesity. We selected 12 from the most accepted susceptibility genes to overweight, which have been corroborated in different populations and series of thousands of adult individuals. Single-nucleotide polymorphisms variants can have a cumulative effect on common forms of obesity, to create a genetic risk score. What this study adds We concentrated on 109 single-nucleotide polymorphisms (SNPs) located in 12 loci previously reported in association to body mass index at genome-wide significant level, for individuals of European ancestry. To iden…
O início de uma nova era: teste sistemático para patógenos causadores de infecções agudas das vias aéreas superiores (IVAS) em crianças
2007
On average humans get sick ten times per year. About six times the illness is due to an acute respiratory tract infection (ARI). Morbidity is especially high in children since they usually encounter the offending organism for the first time in their life; the lack of immunity results in shedding of the offending organisms in high numbers of prolonged time as compared to adults; their airways are smaller than those of adults and thus the inflammatory response leads to a more significant narrowing of the airways resulting in more severe disease; on average they have a high number of social contacts and also a more intimate contact with peers and caregivers alike resulting in a higher attack r…
219 Incidence Testing of Hunter Syndrome in A Population at Risk - First Results of A Binational Screening Programme
2012
Background Hunter syndrome (Mucopolysaccharidosis type II; X-linked inheritance; prevalence rate in Europe approximately 1:77000 male newborns) is a rare, progressive, multisystemic disease, caused by deficiency of the lysosomal enzyme Iduronate-2-sulfatase. Due to the very heterogeneous phenotype Hunter syndrome is often not diagnosed before pre-school age. This is unfortunate, because patients would significantly benefit from the earliest possible start of treatment containing enzyme replacement therapy. Early screening methods are possible, but due to the rarity of this disease they are too expensive to be performed in all newborns. An at-risk patient population screening provides opport…
Zweitmalignome nach malignen Erkrankungen im Kindesalter
1995
Since 1980 the German Registry of Childhood Malignancies has been established. In the framework of the long-term follow-up secondary malignancies are reported continually to the registry. An additional retrospective inquiry to all treating clinicians and principal investigators of clinical trials as well as a link to a previously existing pool of secondary malignancies (1) lead to a completion of the data. At the registry now 329 patients with second malignant neoplasms have been observed. 41.3% of them had been developed the first malignancy before the registry started its work in 1980. The most common primary malignancies are acute lymphoblastic leukaemia (ALL, 28.6%), brain tumours (12.2…
Case Control Study on Childhood Leukemia in Lower Saxony, Germany
1996
In two municipalities in Lower Saxony statistically valid clusters were observed, which attracted great public interest. Committees were set up to initiate a large variety of on-the-spot-investigations. Finally, it was decided to conduct a case control study throughout Lower Saxony to explore potential risk factors which might explain the observed clusters. A limited number of already established and currently discussed hypotheses was chosen for investigation. The study was based on patients registrated at the German Children's Cancer Registry (GCCR). For each child with leukemia diseased between 1988 and 1993 two population-based controls (local and state controls) and one tumour control w…
PO-0994 Ltri In Paediatrics: Analysis Of An Annual Survey
2014
Background and aims Lower tract respiratory infections (LTRI) are very frequent in paediatric population. We collected epidemiological, etiological and clinical data and correlated them to some variables. Methods We performed an observational study of all children with a LTRI, admitted to our Paediatric Unit from February 2013 to January 2014. The population was grouped in three classes of ages (0–2yr, 3–6yr, >6yr). All patients underwent to a questionnaire focused on exposition to protective and risk factors for respiratory diseases. Results 83 children were included. We grouped them according to discharge diagnosis and analysed the distribution for ages, sex and season of onset. At the ad…
Islet Autoantibodies in Offspring of Mothers with Gestational Diabetes at the Age of 4 to 14 Years
2011
Islet Autoantibodies in Offspring of Mothers with Gestational Diabetes at the Age of 4 to 14 Years
Transient hypothyroidism associated with prematurity, sepsis, and respiratory distress.
1979
Serial TSH and T4 determinations were performed in sixty neonates admitted to our hospital for neonatal intensive care within a period of three months. Seven patients (12%) showed transient hypothyroidism on the basis of low T4 and high TSH values. Only one of these patients, who had meconium aspiration and pneumonia, did not have the respiratory distress syndrome. In addition, 4 of these patients had sepsis. All of the patients were born before 37 gestational weeks and had birth weights under 2200 g. In addition, two patients of this gestational age and birth weight group had a progressive fall of T4 to extremely hypothyroid values without simultaneous elevation of TSH. Two of the 5 patien…
HGH secretion after oral application of l-Dopa and l-Carbiodopa
1976
The stimulatory effect of L-Dopa and L-Carbidopa (Nacom) on HGH secretion was determined in 12 children of normal height aged from 6 to 14 years. Each child received a standard dose of 250 mg L-Dopa and 25 mg L-Carbidopa p.o. HGH concentration in the serum was determined at standard intervals. All subjects showed a sufficient increase of HGH. The mean value was 19.6 ng/ml. According to the maximum values of the HGH concentration the sample can be divided into two groups; the first group reached the highest values after 20--40 min, the second one after 60--90 min. On evaluation of the curve of the mean values it appears that 2 blood samples taken 40 and 90 min after the ingestion of L-Dopa a…
Simultaneous stimulation of growth hormone, adrenocorticotropin and cortisol with L‐dopa/L‐carbidopa and propranolol in children of short stature
2000
In 59 otherwise healthy children of short stature, the simultaneous response of growth hormone, cortisol and plasma adrenocorticotropin (ACTH) to L-dopa/L-carbidopa and propranolol at 45 and 90 min after administration were investigated. A growth hormone response of 10 microg/l or higher was considered positive. The definition of a positive cortisol response included either a hormone increase of at least 193 nmol/l or a peak hormone level of at least 497 nmol/l. The ACTH increase had to be fourfold above 11 pmol/l to be considered positive. In the 59 investigated children, the median basal growth hormone levels increased from 1.35 microg/l to 18.05 microg/l and 10.15 microg/l at 45 and 90 m…