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Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Introduction: To assess prognosis depending on whether lymph node involvement (LNI) is intracapsular or with extracapsular breakthrough in patients with a locally advanced esophageal cancer treated with neoadjuvant chemoradiation and surgery., Methods: Ninety-four consecutive patients with an esophageal cancer staged IIB (n = 17) and III (n = 77) received neoadjuvant chemoradiation followed by transthoracic esophagectomy with two-field lymphadenectomy. Histology was squamous cell carcinoma (n = 46) and adenocarcinoma (n = 48). Neoadjuvant therapy consisted of association of 5-fluorouracil/cisplatin concomitantly with a 45-Gy radiation therapy. Disease-free survival (DFS) excluding the in-hospital mortality was analyzed according to the nodal status and the invaded/resected lymph node ratio (LNR). Clinical factors affecting survival or predictors of extracapsular invasion were investigated by multivariate analysis., Results: Five-year DFS rates were 46, 36, and 11% in N0 patients (n = 56), intracapsular LNI patients (n = 18), and extracapsular LNI patients (n = 10), respectively (p = 0.002). Intracapsular LNI patients with an LNR <0.1 (n = 12) had a 5-year DFS rate similar to N0 patients (44 versus 46%, p = 0.95). Intracapsular LNI patients with an LNR > or =0.1 (n = 6) had a DFS rate similar to extracapsular LNI patients (18 versus 11%, p = 0.69). Multivariate analysis revealed that the sole independent factor affecting DFS was the extracapsular LNI (HR = 3.9, p = 0.026). The number of invaded LN seemed to be the sole significant predictive factor for the development of ECLNI (HR = 2.39, p = 0.008)., Conclusion: After neoadjuvant chemoradiotherapy, there was a significant difference on DFS depending on whether LNI was intracapsular or extracapsular. Extracapsular invasion seems to be an independent negative prognostic factor affecting survival, and its presence is related to the number of invaded LN.

Background: Hypertonic saline may be administered in the setting of lung transplantation but may affect the development of ischemia-reperfusion lung injury. This study investigated the effects of the pre-treatment by intravenous hypertonic saline in a pig model of single lung ischemia-reperfusion., Methods: Forty-three pigs (34 +/- 4 kg) under mechanical ventilation were randomly assigned to a left lung ischemia-reperfusion alone or preceded by 4-ml/kg 7.5% hypertonic saline, 33-ml/kg normal saline, or by the infusion of the vasodilator nicardipine. Animals without ischemia served as controls. After euthanasia, the left lung was sampled for histologic analysis and measurement of lung water and alveolar-capillary permeability., Results: Ischemia-reperfusion resulted in high-permeability pulmonary edema, hypoxemia, and increased interleukin-6 serum level. Hypertonic saline pre-treatment worsened pulmonary edema of the left lung (6.6 +/- 0.7 vs 4.8 +/- 0.8 ml/kg of body weight, p < 0.05) and resulted in a higher ratio of the protein level in the alveolar fluid to the serum protein level (0.41 +/- 0.04 vs 0.21 +/- 0.09, p < 0.05) and in a higher histologic damage score (11 [range, 9-11.75] vs 6.5 [range, 4.5-7.5], p < 0.05) without promoting pulmonary or systemic inflammation. Lung injury was affected neither by normal saline nor by nicardipine pre-treatment. Nicardipine did not influence the deleterious effect of hypertonic saline., Conclusions: Pre-treatment by intravenous hypertonic saline worsened ischemia-reperfusion lung injury independently of its effects on the cardiac index or pulmonary circulation but probably through a direct effect of hyperosmolarity on endothelial permeability.