Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes

Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype–phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa—epidermolysis bullosa pruriginosa and mild recessive non‐Hallopeau–Siemens—raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.     

Incremental Value of Three‐Dimensional Echocardiography over the Two‐Dimensional Technique in the Assessment of Combined Sinus of Valsalva Rupture into the Right Ventricle and Adjacent Perimembranous Ventricular Septal Defect

We describe the incremental value of live/real time three‐dimensional (3D) echocardiography over the 2D technique in the assessment of ruptured right sinus of Valsalva into the right ventricle associated with an adjacent perimembranous ventricular septal defect in an elderly patient.     

Bacterial Vaginosis in the Context of Lichen Sclerosus in a Prepubertal Girl

Group A beta‐hemolytic streptococcus cause most vulvovaginal infections seen in prepubertal girls. Bacterial vaginosis is a common cause of abnormal vaginal discharge in women of childbearing age but is rare in children. Data are insufficient to suggest that bacterial vaginosis is an exclusively sexually transmitted disease. We report a 10‐year‐old girl with no history or suspicion of sexual abuse who developed bacterial vaginosis in the context of a lichen sclerosus being treated with tacrolimus ointment. Secondary bacterial infection in lichen sclerosus is uncommon. We speculate that the immunosuppressive effect of topical tacrolimus could have triggered the infection.     

Antitumoral Effects of D-Fraction from Grifola Frondosa (Maitake) Mushroom in Breast Cancer

D-Fraction is protein-bound β-1,6 and β-1,3 glucans (proteoglucan) extracted from the edible and medicinal mushroom Grifola frondosa (Maitake). The antitumoral effect of D-Fraction has long been exclusively attributed to their immunostimulatory capacity. However, in recent years increasing evidence showed that D-Fraction directly affects the viability of canine and human tumor cells, independent of the immune system. Previously, we have reported that D-Fraction modulates the expression of genes associated with cell proliferation, cell death, migration, invasion, and metastasis in MCF7 human breast cancer cells. Therefore, the purpose of the current study is to investigate if this modulation of gene expression by Maitake D-Fraction really modulates tumor progression. In the present work, we demonstrate for the first time that Maitake D-Fraction is able to act directly on mammary tumor cells, modulating different cellular processes involved in the development and progression of cancer. We demonstrate that D-Fraction decreases cell viability, increases cell adhesion, and reduces the migration and invasion of mammary tumor cells, generating a less aggressive cell behavior. In concordance with these results, we also demonstrate that D-Fraction decreases tumor burden and the number of lung metastases in a murine model of breast cancer.