Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016.

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y.

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Basal cell carcinoma (BCC) of the skin is the most common malignant neoplasm in humans. BCC is primarily driven by the Sonic Hedgehog (Hh) pathway. However, its phenotypic variation remains unexplained.

Lower mortality rate in people with dementia is associated with better cognitive and functional performance in an outpatient cohort.

Unlabelled: We describe a three-year experience with patients with dementia.

Method: clinical, cognitive and functional evaluation was performed by a multidisciplinary team for persons above 60 years. Mortality was assessed after three years.

Motility-related protein-1 (MRP-1/CD9) expression can predict disease-free survival in patients with squamous cell carcinoma of the head and neck.

CD9 is a transmembrane protein that has been implicated in cell adhesion, motility and proliferation, and numerous studies have demonstrated the prognostic value of its expression in different solid tumours. The purpose of this study is to determine the predictive value of CD9 in squamous cell carcinoma (SCC) of the head and neck. A total of 153 cases were examined for CD9 expression using immunohistochemistry applied on formalin-fixed, paraffin-embedded tissue.

Fibronectin distribution in the chick embryo during formation of the blastula.

The distribution of the fibronectin-rich extracellular matrix (ECM) in the chick embryo during formation of the blastula has been evaluated semiquantitatively using an electron microscopical immunogold staining technique. During the first 10 h of postlaying development, fibronectin was found in both embryonic area pellucida and extra-embryonic area opaca of the blastoderm. In the area pellucida, the fibronectin was (1) associated with the basal lamina of the epiblast, (2) present between epiblastic and hypoblastic cells and (3) occasionally internalized in hypoblastic cells.

Fibronectin in the area opaca of the young chick embryo. Immunofluorescence and immuno-electron-microscopic study.

Distribution of fibronectin-like immunoreactivity was studied in the area opaca of the young chick embryo (stages 4-6 HH) by use of the immunofluorescence and protein A-coupled to colloidal gold techniques. Fibronectin, associated to the basement membrane, formed a fibrillar network, the pattern of which changed from the centre to the periphery of the area opaca. At the ultrastructural level, differences in fibronectin distribution were found between non-moving and moving cells.

Pollicization of the index finger for reconstruction of the congenitally hypoplastic or absent thumb.

Between 1962 and 1980, 30 pollicizations of the index finger for congenital absence of the thumb were performed. None of the 30 index fingers were lost during the intraoperative or postoperative period. Of the 14 cases followed up on a long-term basis, six required secondary procedures, three for scar revisions; one, bone shortening; one, tenolysis of flexor tendons; and one, tenolysis of extensor tendons.

Report of the Committee on Tendon Injuries (International Federation of Societies for Surgery of the Hand).

Most of the committee members agreed on the material presented. Universal adoption of a single system for measuring and recording tendon function will require additional meetings. It is suggested that TAM and the Dieter Buck-Gramcko systems be more widely publicized and adopted by various hand surgeons before further discussion.

[The prefiguration of a museum of the Hand of Man].

The author has created a foundation, acknowledged as being of public benefit, whose purpose is to set up a "Museum of the Hand of Man", conceived as a coordination and research center on the hand. An attempt at systematizing a prefiguration of this institution is proposed, with five subsectors: the original of this institution is proposed, with five subsectors: the original hand, the experienced hand, the hand and culture, the hand and society, and the hand as a symbol. In addition, a collection of publications on these various aspects of the hand is projected.

Krukenberg's operation. Indications and limitations.

The Krukenberg operation--creating a sensory forceps--is indicated principally in bilateral below elbow amputation with blindness. Other indications are proposed, in particular in children. The limitations to this procedure are essentially aesthetic problems and should not be minimized.

The thumb in syndactyly.

Syndactyly of the thumb is a rare but very serious malformation. It produces a loss of the grasping function of the thumb, which is the main function of the human hand. The author presents different methods for the reconstruction of the first web space and a functional thumb.