A922 Sequential measurement of 1 hour creatinine clearance (1-CRCL) in critically ill patients at risk of acute kidney injury (AKI)

Meeting abstrac

'En face' ex vivo reflectance confocal microscopy to help the surgery of basal cell carcinoma of the eyelid

Background: Ex vivo confocal microscopy is a recent imaging technique for the perioperative control of skin tumour margins. Up to date, it has been used in the fluorescence mode and with vertical sections of the specimen margins. The aim of this study was to evaluate its use in the reflectance mode and with a horizontal (‘en face’) scanning of the surgical specimen in a series of basal cell carcinoma of the eyelid. Design: Prospective consecutive cohort study was performed at the University Hospital of Saint-Etienne, France. Participants: Forty-one patients with 42 basal cell carcinoma of the eyelid participated in this study. Methods: Basal cell carcinomas were excised with a 2-mm-wide clinically safe margin. The surgical specimens were analysed under ex vivo confocal microscopy in the reflectance mode and with an en face scanning in order to control at a microscopic level if the margins were free from tumour invasion. Histopathogical examination was later performed in order to compare the results. Main Outcome Measures: Sensitivity and specificity of ex vivo confocal microscopy for the presence of tumour-free margins. Results: Ex vivo confocal microscopy results were consistent with histopathology in all cases (tumour-free margins in 40 out of 42 samples; sensitivity and specificity of 100%). Conclusions: Ex vivo confocal microscopy in the reflectance mode with an ‘en face’ scanning can control tumour margins of eyelid basal cell carcinomas and optimize their surgical management. This procedure has the advantage on the fluorescent mode of not needing any contrast agent to examine the samples

Optical diagnosis of a metabolic disease: cystinosis

Nephropathic cystinosis (NC) is a rare autosomal recessive storage disease characterized by the lysosomal accumulation of cystine crystals throughout the body, particularly in blood cells, the cornea, skin, kidneys, the central nervous system, and the muscles. The skin and the cornea are the most accessible sites to explore, and in vivo reflectance confocal microscopy (IVCM) helps identify crystals in both but does not provide any information to help define their composition. Raman spectroscopy (RS) allows cystine to be easily recognized thanks to its characteristic signature with a band at 499 cm⁻¹. Two dermatology confocal microscopes were used to visualize crystals in both the skin and the ocular surface of a cystinosis patient, and an ex vivo Raman examination of a skin biopsy and of the cornea was performed and removed during a corneal graft to confirm the cystine composition of the crystals. Recently, RS has been performed in vivo and coupled with IVCM. In the future, it is suggested that crystals in NC and other deposits in storage diseases could be identified with this noninvasive in vivo technique that combines IVCM to recognize the deposits and RS to confirm their chemical nature

The role of in vivo confocal microscopy in the diagnosis of eyelid margin tumors: reply from the authors

12nonenoneCinotti, Elisa; Perrot, Jean-Luc; Campolmi, Nelly; Labeille, Bruno; Espinasse, Marine; Grivet, Damien; Thuret, Gilles; Gain, Philippe; Douchet, Catherine; Forest, Fabien; Haouas, Maher; Cambazard, FrédéricCinotti, Elisa; Perrot, Jean Luc; Campolmi, Nelly; Labeille, Bruno; Espinasse, Marine; Grivet, Damien; Thuret, Gilles; Gain, Philippe; Douchet, Catherine; Forest, Fabien; Haouas, Maher; Cambazard, Frédéri

Handheld reflectance confocal microscopy for the diagnosis of conjunctival tumors

PURPOSE: To evaluate whether the handheld in vivo reflectance confocal microscopy that has been recently developed for the study of skin tumors is suitable for the diagnosis of conjunctival tumors. DESIGN: Prospective study, observational case series. METHODS: We prospectively evaluated the reflectance confocal microscopy features of 53 conjunctival lesions clinically suspicious for tumors of 46 patients referred to the University Hospital of Saint-Etienne (France) by using the handheld device. Twenty-three lesions were excised (3 nevi, 10 melanomas, 5 squamous cell carcinoma, 2 lymphomas, and 3 pinguecula/pterygium) while the other 30, presenting no reflectance confocal microscopy malignant features, were under follow-up for at least 1 year. Clinical reflectance confocal microscopy and histologic diagnosis were compared. RESULTS: In vivo reflectance confocal microscopy diagnosis was in agreement with the histologic diagnosis in all cases and none of the lesions that were not excised show any clinical progression under follow-up. CONCLUSION: In vivo reflectance confocal microscopy with a handheld dermatology-dedicated microscope can play a role in the noninvasive diagnosis of conjunctival lesions. Further studies should be performed to better define the diagnostic ability of this technique

The role of in vivo confocal microscopy in the diagnosis of eyelid margin tumors: 47 cases

BACKGROUND: Handheld in vivo reflectance confocal microscopy (IVCM) is a new imaging method that allows noninvasive diagnosis of cutaneous tumors but to date it has not been used in the study of eyelid tumors. OBJECTIVE: We sought to evaluate the suitability of IVCM for eyelid margin tumors. METHODS: We prospectively evaluated the IVCM features of 47 eyelid margin lesions, clinically suspicious of malignancy; 35 of these were excised whereas the other 12, with no IVCM malignant features, were followed up for at least 1 year. Clinical, IVCM, and histologic diagnoses were compared. RESULTS: IVCM showed sensitivity and specificity of 100% and 69.2%, respectively, for malignancy (basal cell carcinoma, squamous cell carcinoma, and melanoma). The follow-up of the 12 nonexcised lesions did not show any clinical progression. LIMITATIONS: The lesions showing neither clinical nor IVCM features for malignancies were not biopsied in view of the potential functional and aesthetic consequences of eyelid margin surgery. CONCLUSION: Used with a handheld dermatology-specific microscope, IVCM can play a role in the noninvasive diagnosis of eyelid margin lesions. Further studies are needed to better define diagnostic criteria of eyelid tumors and improve the specificity of this technique

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

CHARGE syndrome is a rare genetic disorder mainly due to de novo and private truncating mutations of CHD7 gene. Here we report an intriguing hot spot of intronic mutations (c.5405-7G > A, c.5405-13G > A, c.5405-17G > A and c.5405-18C > A) located in CHD7 IVS25. Combining computational in silico analysis, experimental branch-point determination and in vitro minigene assays, our study explains this mutation hot spot by a particular genomic context, including the weakness of the IVS25 natural acceptor-site and an unconventional lariat sequence localized outside the common 40 bp upstream the acceptor splice site. For each of the mutations reported here, bioinformatic tools indicated a newly created 3' splice site, of which the existence was confirmed using pSpliceExpress, an easy-to-use and reliable splicing reporter tool. Our study emphasizes the idea that combining these two complementary approaches could increase the efficiency of routine molecular diagnosis

L'eau à découvert

Indispensable à la régulation du climat, au développement de la vie sur Terre, au maintien des écosystèmes, aux populations, au développement de l'agriculture, de l'industrie comme à la production d'énergie, l'eau est un élément vital. Il convient donc, dans un contexte de changement global, d'analyser dans toute sa diversité la place et le rôle de l'eau et de se donner ainsi les moyens de mieux la préserver. Autour de cet enjeu qui engage toute l'humanité, Agathe Euzen, Catherine Jeandel et Rémy Mosseri ont réuni près de cent cinquante contributions, visant à apporter un éclairage sur chacun des domaines et des approches que couvre cette thématique. Quelle est l'origine de l'eau ? Son rapport avec l'apparition de la vie ? Quel rôle a-t-elle joué dans l'histoire de la planète et dans le développement de la vie végétale, animale et humaine ? Quel est son cycle ? Quelles sont ses propriétés chimiques ? Comment les sociétés se sont-elles emparées de cet élément précieux ? Allons-nous manquer d'eau ? L'eau est-elle source de conflits ? Comment l'eau est-elle gérée ? Comment recycle-t-on une eau polluée ? Quels sont les risques pour la santé mondiale ? Quels sont les grands enjeux liés à l'eau au xxie siècle ? Comprendre et proposer des solutions à ces défis majeurs est l'intention de cet ouvrage