AAV-mediated cardiac gene transfer of wild-type desmin in mouse models for recessive desminopathies.

Mutations in the human desmin gene cause autosomal-dominant and recessive cardiomyopathies and myopathies with marked phenotypic variability. Here, we investigated the effects of adeno-associated virus (AAV)-mediated cardiac wild-type desmin expression in homozygous desmin knockout (DKO) and homozygous R349P desmin knockin (DKI) mice. These mice serve as disease models for two subforms of autosomal-recessive desminopathies, the former for the one with a complete lack of desmin protein and the latter for the one with solely mutant desmin protein expression in conjunction with protein aggregation pathology in striated muscle. Two-month-old mice were injected with either a single dose of 5 × 1012 AAV9-hTNT2-mDes (AAV-Des) vector genomes or NaCl as control. One week after injection, mice were subjected to a forced swimming exercise protocol for 4 weeks. Cardiac function was monitored over a period of 15 month after injection and before the mice were sacrificed for biochemical and morphological analysis. AAV-mediated cardiac expression of wild-type desmin in both the homozygous DKO and DKI backgrounds reached levels seen in wild-type mice. Notably, AAV-Des treated DKO mice showed a regular subcellular distribution of desmin as well as a normalization of functional and morphological cardiac parameters. Treated DKI mice, however, showed an aberrant subcellular localization of desmin, unchanged functional cardiac parameters, and a trend toward an increased cardiac fibrosis. In conclusion, the effect of a high-dose AAV9-based desmin gene therapy is highly beneficial for the heart in DKO animals, but not in DKI mice.

[Combined paralateronasal and cervical approaches for malignant maxillo-mandibular tumors extending to the infratemporal fossa]. / Abord combiné para-latéro-nasal et cervical des tumeurs maxillo-mandibulaires étendues en fosse infra-temporale.

INTRODUCTION: The common anterior paralateronasal approach for malignant maxillo-mandibular tumors extending to the infratemporal fossa is usually difficult, insufficient, or even dangerous. TECHNICAL NOTE: We report a new approach for tumors extending to the infratemporal fossa. It combines a paralateronasal and a cervical approach indicated for tumors extending to the infratemporal fossa, requiring a total monoblock excision of the tumor with as little esthetic sequel as possible. DISCUSSION: The main interest of this technique is to offer a large exposure of the facial skeleton and the tumor, and to spare cervical vascular structures.

[Liposarcoma of the hypopharynx: two case reports and literature review]. / Liposarcome de l'hypopharynx: à propos de deux cas et revue de la littérature.

Liposarcoma of the hypopharynx is exceedingly rare. Only 20 cases were reported in literature. The mean age was 59 years, and males are largely predominant. The well differentiated Liposarcoma was the most common histological diagnosis found. The treatment was based on surgery, by external or endoscopic approach. Surgery was associated with radiotherapy in high grade tumors, and those aggressive locally or in case of incomplete surgical excision. The survival rate without a local recurrence was about 83% in literature. We report 2 others cases of hypopharyngeal well-differentiated liposarcoma, with literature review.