[Illustrations de Le Temple de Gnide] / Le Mire Noël, grav. ; Montesquieu, aut. du texte

Comprend : [Pl. en reg. p.1. Premier chant : Vénus et Vulcain, sur le lit nuptial, devant l'assemblée des Dieux et des nymphes (dont Mercure et Zeus).] Sa robe fuit ses genoux, la toile vole... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.25. Second chant : une coquette, venue à Gnide, reçoit l'oracle de Vénus. ] Tu mourras accablée de refus et de mépris. [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.31. Troisième chant : Vénus et les trois Grâces couronnent la beauté de Thémire.] Elle appella les Grâces : Allez la couronner... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.45. Quatrième chant : Thémire et son amant.] Une nuit que j'étois dans cet état tranquille... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.61. Cinquième chant : Aristée et Camille.] Je sens couler mes larmes... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.73. Sixième chant : la Fureur jette un serpent dans le coeur de l'amant de Thémire.] Elle détacha un de ses serpents. .. [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.87. Septième chant : l'Amour se cache sous les jupes de Thémire.] Il se cacaha sous ses genoux, je le suivis... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.99 : Céphise coupe les aîles de l'Amour.] Elle coupa le sommet des aîles de l'Amour... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407] ; [Pl. en reg. p.102 : Jupiter envoie Cupidon auprès de Vénus pour que l'amour de la déesse fasse repousser les aîles de l'Amour.] La chaleur va les faire renaître... [Cote : 4 ° Z Don 205 (39)/Microfilm R 122407]

Holt Oram syndrome: a registry-based study in Europe.

BACKGROUND: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. METHODS: The study was based on data collected during 1990-2011 by 34 registries. The registries are population-based and use multiple sources of information to collect data on all types of birth using standardized definitions, methodology and coding. Diagnostic criteria for inclusion in the study were the presence of radial ray abnormalities and congenital heart disease (CHD), or the presence of either radial ray anomaly or CHD, with family history of HOS. RESULTS: A total of 73 cases of HOS were identified, including 11 (15.1%) TOPFA and 62 (84.9%) LB. Out of 73 HOS cases, 30.8% (20/65) were suspected prenatally, 55.4% (36/65) at birth, 10.7% (7/65) in the first week of life, and 3.1% (2/65) in the first year of life. The prenatal detection rate was 39.2% (20/51), with no significant change over the study period. In 55% (11/20) of prenatally detected cases, parents decided to terminate pregnancy. Thumb anomalies were reported in all cases. Agenesis/hypoplasia of radius was present in 49.2% (30/61), ulnar aplasia/hypoplasia in 24.6% (15/61) and humerus hypoplasia/phocomelia in 42.6% (26/61) of patients. Congenital heart defects (CHD) were recorded in 78.7% (48/61) of patients. Isolated septal defects were present in 54.2 (26/48), while 25% (12/48) of patients had complex/severe CHD. The mean prevalence of HOS diagnosed prenatally or in the early years of life in European registries was 0.7 per 100,000 births or 1:135,615 births. CONCLUSIONS: HOS is a rare genetic condition showing regional variation in its prevalence. It is often missed prenatally, in spite of the existence of major structural anomalies. When discovered, parents in 45% (9/20) of cases opt for the continuation of pregnancy. Although a quarter of patients have severe CHD, the overall first week survival is very good, which is important information for counselling purposes.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

BackgroundNiemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time course of symptoms, and the clinical diagnostic work-up in the Swiss NP-C cohort.MethodsClinical, biochemical and genetic data were assessed for 14 patients derived from 9 families diagnosed with NP-C between 1994 and 2013. We retrospectively evaluated diagnostic delays and period prevalence rates for neurological, psychiatric and visceral symptoms associated with NP-C disease. The NP-C suspicion index was calculated for the time of neurological disease onset and the time of diagnosis.ResultsThe shortest median diagnostic delay was noted for vertical supranuclear gaze palsy (2y). Ataxia, dysarthria, dysphagia, spasticity, cataplexy, seizures and cognitive decline displayed similar median diagnostic delays (4¿5y). The longest median diagnostic delay was associated with hepatosplenomegaly (15y). Highest period prevalence rates were noted for ataxia, dysarthria, vertical supranuclear gaze palsy and cognitive decline. The NP-C suspicion index revealed a median score of 81 points in nine patients at the time of neurological disease onset which is highly suspicious for NP-C disease. At the time of diagnosis, the score increased to 206 points.ConclusionA neurologic-psychiatric disease pattern represents the most characteristic clinical manifestation of NP-C and occurs early in the disease course. Visceral manifestation such as isolated hepatosplenomegaly often fails recognition and thus highlights the importance of a work-up for lysosomal storage disorders. The NP-C suspicion index emphasizes the importance of a multisystem evaluation, but seems to be weak in monosymptomatic and infantile NP-C patients.