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Now showing items 1-10 of 12
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
(2014-09)
GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells. Loss-of-function mutations in GCH1 result in severe reduction of dopamine synthesis in nigrostriatal ...
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.
(2018-09)
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism ...
Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study.
(2018-09)
Women with epilepsy need to continue to take anticonvulsants during their pregnancies to prevent seizures from occurring. Since the 1980's, it has been known that the use of valproate (an anticonvulsant) in the first ...
Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe.
(2018-09)
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological ...
Trends in congenital anomalies in Europe from 1980 to 2012.
(2018)
BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. METHODS: This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based ...
The impact of mammography screening programmes on incidence of advanced breast cancer in Europe: a literature review.
(2018-09-03)
BACKGROUND: Observational studies have reported conflicting results on the impact of mammography service screening programmes on the advanced breast cancer rate (ABCR), a correlation that was firmly established in randomized ...
Images of psychiatry and psychiatrists.
(2015-01)
OBJECTIVE: This study surveyed medical teaching faculty to determine their attitudes toward psychiatry and psychiatrists. METHOD: We conducted a multisite survey of a probability sample of 1057 teaching medical faculty ...
Predictors of length of stay in psychiatric inpatient units: Does their effect vary across countries?
(2018-02)
BACKGROUND: Previous studies in individual countries have identified inconsistent predictors of length of stay (LoS) in psychiatric inpatient units. This may reflect methodological inconsistencies across studies or true ...
EUROmediCAT signal detection: an evaluation of selected congenital anomaly-medication associations.
(2016-10)
AIMS: To evaluate congenital anomaly (CA)-medication exposure associations produced by the new EUROmediCAT signal detection system and determine which require further investigation. METHODS: Data from 15 EUROCAT registries ...
EUROmediCAT signal detection: a systematic method for identifying potential teratogenic medication.
(2016-10)
AIMS: Information about medication safety in pregnancy is inadequate. We aimed to develop a signal detection methodology to routinely identify unusual associations between medications and congenital anomalies using data ...