Multiple variation of right renal and gonadal vascularization: report of two cases.

We present two cases of multiple anatomical variations of the renal and gonadal vessels. The first case presented duplication of the renal vein and the presence of an accessory renal artery. However, the most interesting fact, in this case, was that the right gonadal vein emptied into the inferior right renal vein instead of ending in the inferior vena cava as would typically be the case.

The gene variant governs passive ascending aortic mechanics in the mgΔ mouse model of Marfan syndrome when superimposed to perlecan haploinsufficiency.

Introduction: Ascending thoracic aortic aneurysms arise from pathological tissue remodeling that leads to abnormal wall dilation and increases the risk of fatal dissection/rupture. Large variability in disease manifestations across family members who carry a causative genetic variant for thoracic aortic aneurysms suggests that genetic modifiers may exacerbate clinical outcomes. Decreased perlecan expression in the aorta of mgΔ mice with severe Marfan syndrome phenotype advocates for exploring perlecan-encoding as a candidate modifier gene.

Extracellular matrix and vascular dynamics in the kidney of a murine model for Marfan syndrome.

Fibrillin-1 is a pivotal structural component of the kidney's glomerulus and peritubular tissue. Mutations in the fibrillin-1 gene result in Marfan syndrome (MFS), an autosomal dominant disease of the connective tissue. Although the kidney is not considered a classically affected organ in MFS, several case reports describe glomerular disease in patients.

"Split-Face" Evaluation of Collagen Changes Induced by Periorbital Fractional CO2 Laser Resurfacing.

Background: Periorbital fractional CO2 laser resurfacing has been employed for facial rejuvenation purposes. However, to the best of our knowledge, no study has objectively assessed periorbital neoformation and remodeling of local cutaneous collagen, in a split-face model, from skin samples obtained during upper blepharoplasty.

Objectives: The authors sought to objectively evaluate neoformation and remodeling of local cutaneous collagen after periorbital skin fractional CO2 laser resurfacing.

Hyperkyphosis is not dependent on bone mass and quality in the mouse model of Marfan syndrome.

Marfan syndrome (MFS) is an autosomal dominant disease affecting cardiovascular, ocular and skeletal systems. It is caused by mutations in the fibrillin-1 (FBN1) gene, leading to structural defects of connective tissue and increased activation of TGF-β. Angiotensin II (ang-II) is involved in TGF-β activity and in bone mass regulation.

The mgΔ mouse model for Marfan syndrome recapitulates the ocular phenotypes of the disease.

Purpose: Fibrillin-1 and -2 are major components of tissue microfibrils that compose the ciliary zonule and cornea. While mutations in human fibrillin-1 lead to ectopia lentis, a major manifestation of Marfan syndrome (MFS), in mice fibrillin-2 can compensate for reduced/lack of fibrillin-1 and maintain the integrity of ocular structures. Here we examine the consequences of a heterozygous dominant-negative mutation in the Fbn1 gene in the ocular system of the mgΔ mouse model for MFS.

Is HSPG2 a modifier gene for Marfan syndrome?

Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence the manifestations of the disease, characterized by high clinical variability even within families. We mapped modifier loci for cardiovascular and skeletal manifestations in the mg∆ mouse model for MFS and the synthenic loci in the human genome.

Association of thoracic spine deformity and cardiovascular disease in a mouse model for Marfan syndrome.

Aims: Cardiovascular manifestations are a major cause of mortality in Marfan syndrome (MFS). Animal models that mimic the syndrome and its clinical variability are instrumental for understanding the genesis and risk factors for cardiovascular disease in MFS. This study used morphological and ultrastructural analysis to the understanding of the development of cardiovascular phenotypes of the the mgΔloxPneo model for MFS.

Accessing the biocompatibility of layered double hydroxide by intramuscular implantation: histological and microcirculation evaluation.

Biocompatibility of layered double hydroxides (LDHs), also known as hydrotalcite-like materials or double metal hydroxides, was investigated by in vivo assays via intramuscular tablets implantation in rat abdominal wall. The tablets were composed by chloride ions intercalated into LDH of magnesium/aluminum (Mg2Al-Cl) and zinc/aluminum (Zn2Al-Cl). The antigenicity and tissue integration capacity of LDHs were assessed histologically after 7 and 28 days post-implantation.

PVALB diminishes [Ca2+] and alters mitochondrial features in follicular thyroid carcinoma cells through AKT/GSK3β pathway.

We have identified previously a panel of markers (C1orf24, ITM1 and PVALB) that can help to discriminate benign from malignant thyroid lesions. C1orf24 and ITM1 are specifically helpful for detecting a wide range of thyroid carcinomas, and PVALB is particularly valuable for detecting the benign Hürthle cell adenoma. Although these markers may ultimately help patient care, the current understanding of their biological functions remains largely unknown.