Updated EUROCAT guidelines for classification of cases with congenital anomalies.

BACKGROUND: Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research. This paper presents the updated EUROCAT (European surveillance of congenital anomalies) subgroups of congenital anomalies and the updated multiple congenital anomaly (MCA) algorithm and provides the underlying arguments for the revisions. METHODS: The EUROCAT methodology is described. In addition, we show how we validated the revised EUROCAT subgroups and MCA algorithm, which are both based on the International Classification of Diseases (ICD10/ICD9) codes. RESULTS: The updated EUROCAT subgroups and the updated MCA algorithm are described in detail and the updated version is compared to the previous versions. CONCLUSION: The EUROCAT subgroups and MCA algorithm provide a standardized and clear methodology for congenital anomaly research and epidemiological surveillance of congenital anomalies in order to facilitate the identification of teratogenic exposures and to assess the impact of primary prevention and prenatal screening policies. The EUROCAT subgroups and MCA algorithm are made freely available for other researchers via the EUROCAT Database Management Software.

Public health indicators for cerebral palsy: A European collaborative study of the Surveillance of Cerebral Palsy in Europe network.

BACKGROUND: Public health indicators (PHIs) play an increasingly important role in health policy decision-making. Although cerebral palsy (CP) is the commonest physical disability in children, its impact at population level has not been systematically measured so far. OBJECTIVES: We aimed to propose six PHIs for CP designed to annually document the extent of CP and effectiveness of perinatal organisation, the burden of this condition, access to health services and preventive health strategies in the post-neonatal period and to report on the latest updated estimations using population-based data routinely collected by European CP registries. METHODS: The study included children with CP born between 2002 and 2011. Harmonised data (number of cases, functional profile, imaging) were extracted from the Surveillance of Cerebral Palsy in Europe (SCPE) database. Eligibility criteria for analyses were applied separately for each indicator by selecting registries, birth years and CP cases. Current estimates were based on the last 3 birth years, while trends were reported over a 10-year period. All analyses were descriptive. Sensitivity analyses were carried out to examine the stability of the results using various thresholds of percentages of missing values. RESULTS: Analyses were performed on a total of 8621 children with CP from 12 to 17 SCPE registries. A decreasing prevalence of pre/perinatal CP overall, as well as in preterm and full-term-born children, was observed. The burden of the condition was strongly dependent on CP subtype and the presence of associated impairments. Access to brain imaging ranged from 80% to 100% depending on registries. The overall prevalence of post-neonatally acquired CP was approximately 0.8 per 10,000 live births over the study period. CONCLUSIONS: Population-based CP registries can provide data that are relevant for generating key outcomes of interest at the population level, thus potentially contributing to improving public health policies for children with disabilities.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.

Analysis of balms taken from Egyptian human mummies using solid-phase extraction and gas chromatography-mass spectrometry.

The aim of this paper is to establish a protocol by solid-phase extraction-gas chromatography-mass spectrometry leading to a wide and fine qualitative chemical characterization of the several natural substances present in human mummies' balms, using a minimal quantity of samples. In this study, nine samples were analyzed from mummies dating back from the Third Intermediate Period to the Roman Period, and were provided by the Confluences Museum (Lyon, France). Using solid-phase extraction, three fractions were examined in this protocol. The first one, eluted with hexane, concerned chemical families of hydrocarbons of bitumen. The second, eluted with ethanol, enabled terpenic compounds to be characterized and beeswax. The last one, composed of diethyl ether with 2% acetic acid, extracted carboxylic acids with a long aliphatic chain (fatty matter) and glycerides. This study also allowed the characterization of non-saponified compounds from beeswax to be obtained while excluding the common saponification step. The analyzed mummification balms were shown to contain fatty matter, beeswax, bitumen, and diterpenic resinous material. This one-pot solid-phase extraction-gas chromatography-mass spectrometry method was efficient in reducing both the number of analytical steps and the complexity of the archaeological balms subsequently analyzed by gas chromatography-mass spectrometry.