Phase II study shows potential benefit of adenoviral vascular endothelial growth factor C (VEGF-C) and lymph node transfer in lymphedema.

Background: Breast cancer-related lymphedema (BCRL) is a common complication lacking medical treatment. Lymfactin® is an adenovirus type 5-based gene therapy and prolymphangiogenic growth factor vector that induces vascular endothelial growth factor C (VEGF-C) expression. Our aim was to evaluate the therapeutic effect of Lymfactin® with vascularized lymph node transfer (VLNT).

Myth-Busting the Zone-of-Injury Concept: A Prospective Study on the Vascular Response to High-Energy Lower Extremity Trauma.

Background: Although the zone-of-injury concept is widely accepted, no histologic studies of vessel wall changes causing the phenomenon have been reported. In this prospective study, the vascular response to high-energy lower extremity trauma was investigated to evaluate the validity of the zone-of-injury concept.

Methods: The histologic appearance of arterial and venous walls in the zone of injury was studied in 19 patients (median age, 46 years; interquartile range, 29.

Retrospective cohort study of long-term outcomes and prognostic factors for survival after lower extremity amputation in patients with diabetes.

Aims: Lower extremity amputation (LEA) is a pivotal event for patients with diabetes. This study aimed to provide updated data on the outcomes and prognostic factors after LEA for patients with diabetes.

Methods: This retrospective cohort study included all LEAs (n = 1081) performed at Tampere University Hospital between February 2007 and September 2020.

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long form including exon 2 (type IIA isoform) and a short form excluding exon 2 (type IIB isoform).

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with one in intron 50 (c.