Descriptive epidemiology of Cornelia de Lange syndrome in Europe.

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed <or=2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males.

Les méthodes d'ajustement dans les modèles d'évaluation de la mortalité hospitalière. Partie 1, Etude descriptive : document de travail

Suite à la demande du Président de la République de disposer d'indicateurs de mortalité en établissements de santé » (discours du 18 septembre 2008 sur le thème de la politique de la santé et de la réforme du système de soins), la Direction de la recherche, des études, de l'évaluation et des statistiques (DREES) a piloté en 2009, en lien avec la Direction générale de l'offre de soins (DGOS) et la Haute autorité de santé (HAS), l'instruction des aspects méthodologiques relatifs à la construction de ces indicateurs de mortalité. Cette revue de littérature portant sur les différentes méthodes d'ajustement a été réalisée dans ce cadre, à la demande conjointe de la DREES et de la HAS.Ce rapport décrit les méthodes et modèles d'estimation et d'ajustement de la mortalité hospitalière identifiées dans la littérature.Il ressort de cette revue, que d'une manière générale, trois questions méthodologiques majeures préoccupent les épidémiologistes, les chercheurs et les décideurs s'intéressant à l'indicateur de la mortalité hospitalière : i) premièrement, sur l'opportunité d'établir l'indicateur de mortalité hospitalière à partir de groupes de population de patients homogènes définis par des pathologies et/ou des procédures médicales/chirurgicales cibles ; ii) deuxièmement, sur le type d'approche analytique et de l'intérêt de prendre en compte plusieurs niveaux dans l'analyse statistique ; iii) enfin troisièmement, sur le choix des variables d'ajustement permettant de contrôler les différences de case-mix entre plusieurs établissements ou groupes de patients pour réaliser des comparaisons. [Ed.]

Outpatient Quick Diagnosis Units for the evaluation of suspected severe diseases: an observational, descriptive study

Background: Hospitals in countries with public health systems have recently adopted organizational changes to improve efficiency and resource allocation, and reducing inappropriate hospitalizations has been established as an important goal. AIMS: Our goal was to describe the functioning of a Quick Diagnosis Unit in a Spanish public university hospital after evaluating 1,000 consecutive patients. We also aimed to ascertain the degree of satisfaction among Quick Diagnosis Unit patients and the costs of the model compared to conventional hospitalization practices. DESIGN: Observational, descriptive study. METHODS: Our sample comprised 1,000 patients evaluated between November 2008 and January 2010 in the Quick Diagnosis Unit of a tertiary university public hospital in Barcelona. Included patients were those who had potentially severe diseases and would normally require hospital admission for diagnosis but whose general condition allowed outpatient treatment. We analyzed several variables, including time to diagnosis, final diagnoses and hospitalizations avoided, and we also investigated the mean cost (as compared to conventional hospitalization) and the patients' satisfaction. RESULTS: In 88% of cases, the reasons for consultation were anemia, anorexia-cachexia syndrome, febrile syndrome, adenopathies, abdominal pain, chronic diarrhea and lung abnormalities. The most frequent diagnoses were cancer (18.8%; mainly colon cancer and lymphoma) and Iron-deficiency anemia (18%). The mean time to diagnosis was 9.2 days (range 1 to 19 days). An estimated 12.5 admissions/day in a one-year period (in the internal medicine department) were avoided. In a subgroup analysis, the mean cost per process (admission-discharge) for a conventional hospitalization was 3,416.13 Euros, while it was 735.65 Euros in the Quick Diagnosis Unit. Patients expressed a high degree of satisfaction with Quick Diagnosis Unit care. CONCLUSIONS: Quick Diagnosis Units represent a useful and cost-saving model for the diagnostic study of patients with potentially severe diseases. Future randomized study designs involving comparisons between controls and intervention groups would help elucidate the usefulness of Quick Diagnosis Units as an alternative to conventional hospitalization.

Comprehensive assessment of patients in palliative care: a descriptive study utilizing the INTERMED.

Documentation in palliative care is often restricted to medical and sociodemographic information, and the assessment of physical and psychological symptoms or the quality of life. In order to overcome the lack of comprehensive information, we have evaluated the utility of the INTERMED-a biopsychosocial assessment method to document integrated information of patients' needs-in 82 consecutive patients for whom a palliative care consultation was requested. Results confirm the biopsychosocial heterogeneity of the sample, and the importance of integrated information to clinical, scientific, educational, and health care policy agendas. The INTERMED could become a useful method to tailor interdisciplinary interventions based on comprehensive patient needs assessment.

Standardizing the diagnosis of inhalation injury using a descriptive score based on mucosal injury criteria.

INTRODUCTION: Inhalation injury is an important determinant of outcome in patients with major burns. However the diagnostic criteria remain imprecise, preventing objective comparisons of published data. The aims were to evaluate the utility of an inhalation score based on mucosal injury, while assessing separately the oro-pharyngeal sphere (ENT) and tracheobronchial tree (TB) in patients admitted to the ICU with a suspicion of inhalation injury. METHODS: Prospective observational study in 100 patients admitted with suspicion of inhalation injury among 168 consecutive burn admissions to the ICU of a university hospital. Inclusion criteria, endoscopic airway assessment during the first hours. ENT/TB lesion grading was 1: oedema, hyperemia, hypersecretion, 2: bullous mucosal detachment, erosion, exudates, 3: profound ulcers, necrosis. RESULTS: Of the 100 patients (age 42±17 years, burns 23±19%BSA), 79 presented an ENT inhalation injury ≥ENT1 (soot present in 24%): 36 had a tracheobronchial extension, 33 having a grade ≥TB1. Burned vibrissae: 10 patients "without" suffered ENT injury, while 6 patients "with" had no further lesions. Length of mechanical ventilation was strongly associated with the first 24 hrs' fluid resuscitation volume (p<0.0001) and the presence of inhalation injury (p=0.03), while the ICU length of stay was correlated with the %BSA. Soot was associated with prolonged mechanical ventilation (p=0.0115). There was no extubation failure. CONCLUSIONS: The developed inhalation score was simple to use, providing a unified language, and drawing attention to upper airway involvement. Burned vibrissae and suspected history proved to be insufficient diagnostic criteria. Further studies are required to validate the score in a larger population.

Atlas-manuel d'anatomie descriptive du corps humain / par le Dr A. Prodhomme,...

Collection : Atlas-manuels de médecine

Driving under drugs in Switzerland : a descriptive cross-sectional study

Objectives: Many drugs, both illicit or for medication, are known to influence driving abilities and increase risks of accidents. We explored the prevalence of psychoactive substances in a random sample of drivers in Switzerland. Methods: Saliva samples from 1078 random drivers were collected at 24 different locations in Western Switzerland from October 2006 to April 2008 for complete toxicological analysis using liquid chromatography/tandem mass spectrometry. Results: Provisional results are available for 437 drivers. 6.2% (CI95% 4.1 to 8.9) were under the influence of illicit drugs and 8.7% under psychoactive medication (CI95% 6.2 to 11.7). 37 drivers (8.5%) were under the influence of alcohol of which 14 (3.2%) were above 0.8 mg/L. 21 drivers (4.8%) were under the combined influence of more than one psychoactive substance; however only 4 drivers (0.9%) were under both the influence of medication and alcohol. Looking more specifically at illicit substances, 22 (5.0%) were positive to cocaine, 5 (1.1%) to cannabis, and 2 (0.5%) to amphetamines ; for psychoactive medication, 17 (3.9%) were positive to benzodiazepines, 16 (3.7%) to antidepressors, 7 (1.6%) to opiates, 7 (1.6%) to neuroleptics, and 3 (0.7%) to other substances influencing driving abilities. 17/21 drivers did not self-report their consumption of drugs whereas only 9/35 failed mentioning their medication. Men drivers were 3.2 times (CI95% 1.1 to 9.5) more likely to be under the influence of illicit drugs than women. Full results will be reported when laboratory data will be available in April. Conclusions: Driving under the influence of psychoactive substances is common. In Western Switzerland, prevention messages could focus on men, driving under medication or cocaine.