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Biomedical subjects

B Gener

Publications and source records attributed to B Gener.

6 recordsLinked to original sources
PubMed2005

Prenatal diagnosis of severe structural congenital malformations in Europe.

OBJECTIVES: To assess at a population-based level the frequency with which severe structural congenital malformations are detected prenatally in Europe and the gestational age at detection, and to describe regional variation in these indicators. METHODS: In the period 1995-1999, data were obtained from 17 European population-based registries of congenital malformations (EUROCAT). Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis. RESULTS: The 17 registries reported 4366 cases diagnosed with the 11 severe structural malformations and of these 2300 were live births (53%), 181 were fetal deaths (4%) and 1863 were terminations of pregnancy (43%); in 22 cases pregnancy outcome was unknown. The overall prenatal detection rate was 64% (range, 25-88% across regions). The proportion of terminations of pregnancy varied between regions from 15% to 59% of all cases. Gestational age at discovery for prenatally diagnosed cases was less than 24 weeks for 68% (range, 36-88%) of cases. There was a significant relationship between high prenatal detection rate and early diagnosis (P < 0.0001). For individual malformations, the prenatal detection rate was highest for anencephalus (469/498, 94%) and lowest for transposition of the great arteries (89/324, 27%). Termination of pregnancy was performed in more than half of the prenatally diagnosed cases, except for those with transposition of the great arteries, diaphragmatic hernia and gastroschisis, in which 30-40% of the pregnancies with a prenatal diagnosis were terminated. CONCLUSION: European countries currently vary widely in the provision and uptake of prenatal screening and its quality, as well as the "culture" in terms of decision to continue the pregnancy. This inevitably contributes to variation between countries in perinatal and infant mortality and in childhood prevalence and cost to health services of congenital anomalies.

Abortion, Induced↗
PubMed2005

Trends and geographic inequalities in the prevalence of Down syndrome in Europe, 1980-1999.

BACKGROUND: EUROCAT is a network of population-based registries for the epidemiologic surveillance of congenital anomalies covering approximately one quarter of births in the European Union. Down syndrome constitutes approximately 8% of cases of registered congenital anomaly in Europe, with over 7000 affected pregnancies in the 15 current member states of the European Union each year. In this paper, we aim to examine trends in the live birth prevalence of Down syndrome in Europe in the light of trends in maternal age and in prenatal diagnosis. METHODS: Descriptive analysis of data from 24 EUROCAT registries, covering 8.3 million births 1980-99. Cases include live births, stillbirths and terminations of pregnancy following prenatal diagnosis. RESULTS: Since 1980, the proportion of births to mothers of 35 years of age and over has risen quite dramatically from 8 to 14% for the European Union as a whole, with steeper rises in some regions. By 1995-1999, the proportion of "older" mothers varied between regions from 10% to 25%, and the total prevalence (including terminations of pregnancy) of Down syndrome varied from 1 to 3 per 1000 births. Some European regions have shown a more than twofold increase in total prevalence of Down syndrome since 1980. The proportion of cases of Down syndrome which were prenatally diagnosed followed by termination of pregnancy in 1995-1999 varied from 0% in the three regions of Ireland and Malta where termination of pregnancy is illegal, to less than 50% in 14 further regions, to 77% in Paris. The extent to which terminations of pregnancy were concen trated among older mothers varied between regions. The live birth prevalence has since 1980 increasingly diverged from the rising total prevalence, in some areas remaining approximately stable, in others decreasing over time. CONCLUSION: The rise in average maternal age in Europe has brought with it an increase in the number of pregnancies affected by Down syndrome. The widespread practice of prenatal screening and termination of pregnancy has in most of the regions covered by EUROCAT counteracted the effect of maternal age in its effect on live birth prevalence. Under the joint influences of maternal age and prenatal screening the pattern of geographic inequalities in Down syndrome live birth prevalence in Europe has also been changed.

Adult↗
PubMed2001

Multilocular hydrocephalus: ultrasound studies of origin and development.

Multilocular hydrocephalus is a complication of neonatal hydrocephalus. Its main feature is the presence of multiple cysts inside the ventricles, which requires a specific therapeutic approach. The case of a preterm infant with intracranial hemorrhage grade II-III and central nervous system infection is reported. The cysts developed at the subependymal layer in the posterior area of the patient's thalamus. Their growth and development were charted by ultrasound imaging for several weeks. These types of cysts may grow to occupy the totality of the lateral ventricles, isolating the temporal horns. Of all the reviewed pathogenic mechanisms, we support the hypothesis of an inflammatory vasculitis at the subependymal level, with the subsequent infarct giving rise to the cysts. The osmotic pressure within the cavities, rather than intraventricular fluid, would account for the enlargement of the cysts.

Cerebral Ventricles↗
PubMedDate not supplied

[Neuropediatric clinical practice in a tertiary hospital of Basque Country].

INTRODUCTION: In our country, studies on the neuropediatric practice are scarce, in spite of their importance for planning of spending and resources, and definition of quality criteria. OBJECTIVE: To study the clinical workload of the main neuropediatric clinical problems. METHODS: Prospective, longitudinal, descriptive study of doctor-patient encounters, according to diagnosis, in the Child Neurology Division of a tertiaty hospital. RESULTS: 3,200 visits, of which 83% were ambulatory. 24 ambulatory visits per 1,000 inhabitants younger than 15 years, and year. Diagnosis demanding larger clinical activity for out-patients were: epilepsy/seizures (38%), mental retardation (17%), headaches (17%), hyperactivity/conduct disorders (12%), and cerebral palsy/permanent motor sequela (10%). Among in-patients: epilepsy/seizures (47%), mental retardation (10%), brain tumors/neurological complications of oncology disorders (8%), cerebral palsy/motor sequela (8%), and neurological complications of prematurity (7%). Among new out-patients, headaches is the most frequent diagnosis, followed by epilepsy; among new in-patients, epilepsy holds the first place, followed by neurological complications of prematurity and brain trauma. The index follow-up/first visit is much larger for the real neurologic patient than for functional disorders so frequent among new referrals. CONCLUSIONS: The neuropediatric practice comprises essentially epilepsy, cognitive and conduct disorders, and headaches. Unfortunately, our practice is in part being defined by the pressure exerted by the primary medical care and by hospital management practices.

Adolescent↗
PubMedDate not supplied

[Can acute disseminated encephalomyelitis progress in a deferred way?].

OBJECTIVE: To report on the heterogeneity with regard to the clinical course of the acute disseminated encephalomyelitis (ADEM). CASE REPORT: A 5 year old boy suffered of acute disseminated encephalomyelitis of unknown origin. This child suffered two episodes of different neurologic symptoms separated by several weeks. Based on the clinical manifestations and typical appearance of magnetic resonance imaging findings and the absence of oligoclonal bands in CSF immunoglobulins, multiple sclerosis (MS) was ruled out. CONCLUSION: We postulate that the recurrent symptoms in our patient could be explained as a multiphasic disseminated encephalomyelitis (MDEM). Favourable outcome after simultaneous treatment with methylprednisolone and intravenous immunoglobulin is emphasized in this report.

Anti-Inflammatory Agents↗