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Nager syndrome belongs to a heterogeneous group of disorders involving abnormal development of the extremities, face, and jaw: acrofacial dysostosis (AFD). Fewer than 100 cases of Nager syndrome have been reported to date. Recently, mutations in the 1q21.2 region of the SF3B4 gene (splicing factor 3B subunit 4), which encodes a spliceosomal protein (SAP49) involved in the assembly of the spliceosomal complex U2SNP, have been demonstrated in patients with Nager syndrome. We report the case of a child who had a characteristic association (Pierre Robin sequence, bilateral and symmetrical malar hypoplasia, absent thumbs) clinically diagnosed as Nager syndrome. This child also presented tetralogy of Fallot. This combination is unusual; only two other cases have been described. The karyotype and the CGH-array were normal. After the description in 2012 of several mutations in the SF3B4 gene (1q21.2) in Nager syndrome, a genetic search for our patient revealed the mutation c.1229delC. In 2013, other authors showed the presence of these same mutations in the majority of their patients diagnosed as Nager syndrome. The haploinsufficiency of the SF3B4 region seems to be the major cause of Nager syndrome., (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)

The long-term outlook for adult patients with acute myeloid leukemia (AML) remains dismal. The main reason for this state of affairs lies in the fact that the majority of AML patients will eventually relapse, even after obtaining complete remission following front-line chemotherapy. Relapses are generally attributed to the persistence of a small number of chemotherapy-resistant leukemic (stem) cells, a condition known as minimal residual disease (MRD). The eradication of MRD, with the eventual aim of reducing the risk of relapse, therefore represents a high-priority goal of modern AML therapy. It is now well established that the immune system plays a crucial role in the defense against AML. This knowledge has fuelled the development of immune-based approaches to control MRD and, ultimately, to prevent relapse. One of the promising strategies that have emerged in this regard involves the use of dendritic cells for therapeutic vaccination. This review article aims to introduce the reader into the conceptual and practical aspects of DC-based vaccination for AML. Next, we will review the first clinical results obtained with this immunotherapeutic approach in AML patients. Finally, we will briefly reflect on the potential place of DC vaccination in the future therapy of AML.

Hypoplasia adrenal congenita is an extremely uncommon disease of early onset. This condition can be lethal in the absence of treatment. Some forms are due to the congenital adrenal hypoplasia of anencephalic type whose origin is even unknown. Here, we present two cases of congenital adrenal hypoplasia of anencephalic type with pituitary abnormalities. The two male newborns died because adrenal insufficiency in the neonatal period. The adrenal glands were hypoplastic with a histological structure of anencephalic type Immunocytochemical study of the pituitary revealed an absence of the gonadotrophs. No mutation of DAX 1 and SF-1 was found., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)

Elastin is the main protein of elastic fibers and confers the property of elastic recoil to the tissues such as arteries, lung, elastic cartilage,... Elastin synthesis goes through several steps: gene transcription, alternative splicing of pre-mRNA, mRNA translation, hydroxylation of some proline residues of the newly synthesized protein-tropoelastin-, association of with a 67 kDa chaperone protein, secretion of tropoelastin molecules in the extracellular space, and their deposition on the microfibrillar scaffold which contains fibrillin 1, fibrillin 2, MAGP 1 and MAGP 2,.... After the synthesis of cross-links-lysinonorleucine, desmosine, isodesmosine-, elastin becomes insoluble and elastic. The elastogenic pathway is regulated at many levels. The most recently described regulatory mechanism of elastin synthesis is the control of elastin mRNA stability. Elastogenesis is well controlled during development and aging but remains responsive to external factors such as soluble compounds-cytokines, vitamins, hormones,...- and hemodynamic stress. In order to ensure its function, both quantity and quality of elastin should be and should remain optimal in elastic tissues.

Normal, varicose and phlebitic saphenous veins were studied by histochemical methods to establish the qualitative variations of their structural components. The histologic preparations were stained by hematoxylin-eosin Gomori's trichrome, orcinol-neofuchsin and resorcin-fuchsin. Normal saphenous vein showed two layers of smooth muscle cells--an internal circular and an external longitudinal. The components of the elastic system were found in the three layers. Elastic fibers were present in the adventitia under an elongated and wavy conformation. In the media they were present in the external portion. Elaunin fibers were found in the media and intima. The oxytalan fibers were not consistently found. The media and intima of varicose veins showed contracted smooth muscle cells associated with fragmented elastic fibers and augmentation of elaunin fibers. In cases of thrombophlebitis the same alterations observed in varicose veins were found together with a decrease of elastic system fibers in the media and intima. The muscle cells showed a loss of their morphologic characteristics.

The elastic system fibers, i.e. oxytalan, elaunin and elastic fibers have respectively a fibrillar structure (oxytalan fibers), an amorphous structure (elastic fibers), or a mixed structure (elaunin fibers). The morphological distribution of these fibers is characterized by the presence of oxytalan, elaunin and elastic fibers in the upper medium and deep layers of gingival connective tissue. If the amorphous component is made up of elastin the microfibrillar component consist of structural glycoproteins containing aminoacids different of those found in elastin. Elastin is synthesized by gingival fibroblasts in the form of a precursor, tropoelastin, then disposed at the surface of the microfibrillar component and incorporated in the amorphous component.