The hidden side of calf claudication: Hemodynamic and clinical results of treadmill testing in 584 patients complaining of isolated exertional calf pain.

Background And Aims: Calf pain is the most frequent symptom of arterial claudication. We hypothesized that patients with self-reported isolated calf claudication have frequent exertional non-calf symptoms during objective laboratory testing, and that many would show not only distal, but also proximal ischemia.

Methods: We retrospectively analyzed the patients referred since 2016 for exercise transcutaneous oxygen pressure (Ex-tcpO).

Assessment of Inflammation and Calcification in Pseudoxanthoma Elasticum Arteries and Skin with 18F-FluroDeoxyGlucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging: The GOCAPXE Trial.

Background: Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease characterized by elastic fiber fragmentation and ectopic calcification. There is growing evidence that vascular calcification is associated with inflammatory status and is enhanced by inflammatory cytokines. Since PXE has never been considered as an inflammatory condition, no incidence of chronic inflammation leading to calcification in PXE has been reported and should be investigated.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme that regulates numerous fundamental biological processes such as metabolism, development, memory, and immune response. We report seven unrelated individuals presenting with a multiple congenital malformation syndrome in whom we identified heterozygous germline or mosaic missense variants in PRKACA or PRKACB. Three affected individuals were found with the same PRKACA variant, and the other four had different PRKACB mutations.

Tamoxifen Accelerates Endothelial Healing by Targeting ERα in Smooth Muscle Cells.

Rationale: Tamoxifen prevents the recurrence of breast cancer and is also beneficial against bone demineralization and arterial diseases. It acts as an ER (estrogen receptor) α antagonist in ER-positive breast cancers, whereas it mimics the protective action of 17β-estradiol in other tissues such as arteries. However, the mechanisms of these tissue-specific actions remain unclear.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextual effects of haplogroups. Currently, there are insufficient standardized criteria for mtDNA variant assessment, which leads to inconsistencies in clinical variant pathogenicity reporting. An international working group of mtDNA experts was assembled within the Mitochondrial Disease Sequence Data Resource Consortium and obtained Expert Panel status from ClinGen.

Minimising haemodynamic lability during changeover of syringes infusing norepinephrine in adult critical care patients: a multicentre randomised controlled trial.

Background: Arterial pressure lability is common during the process of replacing syringes used for norepinephrine infusions in critically ill patients. It is unclear if there is an optimal approach to minimise arterial pressure instability during this procedures. We investigated whether 'double pumping' changeover (DPC) or automated changeover (AC) reduced blood pressure lability in critically ill adults compared with quick syringe changeover (QC).

Dysfunctional T Cell Mitochondria Lead to Premature Aging.

Desdín-Micó et al. have shown that Tfam specific knockout in mouse T cells disrupts mitochondrial genome integrity and induces a burst of inflammatory cytokines and tumor necrosis factor (TNF)-α production, resulting in increased senescence, neuromuscular and vascular dysfunction, and molecular features that recapitulate premature aging. Interestingly, treatment with nicotinamide riboside (NR) alleviates this phenotype by reducing senescence and systemic inflammation.

Cardiopulmonary bypass and internal thoracic artery: Can roller or centrifugal pumps change vascular reactivity of the graft? The IPITA study: A randomized controlled clinical trial.

Background: Cardiopulmonary bypass (CPB) induces a systemic inflammatory response (SIRS) and affects the organ vascular bed. Experimentally, the lack of pulsatility alters myogenic tone of resistance arteries and increases the parietal inflammatory response. The purpose of this study was to compare the vascular reactivity of the internal thoracic arteries (ITAs) due to the inflammatory response between patients undergoing coronary artery bypass grafting (CABG) under CPB with a roller pump or with a centrifugal pump.

Risk Stratification of Pulmonary Embolism.

Given the broad treatment options, risk stratification of pulmonary embolism is a highly desirable component of management. The ideal tool identifies patients at risk of death from the original or recurrent pulmonary embolism. Using all-cause death in the first 30-days after pulmonary embolism diagnosis as a surrogate, clinical parameters, biomarkers, and radiologic evidence of right ventricular dysfunction and strain are predictive.

The Impact of Estrogen Receptor in Arterial and Lymphatic Vascular Diseases.

The lower incidence of cardiovascular diseases in pre-menopausal women compared to men is well-known documented. This protection has been largely attributed to the protective effect of estrogens, which exert many beneficial effects against arterial diseases, including vasodilatation, acceleration of healing in response to arterial injury, arterial collateral growth and atheroprotection. More recently, with the visualization of the lymphatic vessels, the impact of estrogens on lymphedema and lymphatic diseases started to be elucidated.

In utero exposure to Azathioprine in autoimmune disease. Where do we stand?

Azathioprine (AZA), an oral immunosuppressant, is safe during pregnancy. Some reports suggested different impairments in the offspring of mothers with autoimmune diseases (AI) exposed in utero to AZA. These observations are available from retrospective studies or case reports.

Human amniotic fluid-based exposure levels of phthalates and bisphenol A mixture reduce INSL3/RXFP2 signaling.

Background: The presence of chemical pollutants in the environment can affect human health. Epidemiological and in vivo experimental studies reveal reprotoxic effects (undescended testis) of phthalates (diethylhexyl phthalate (DEHP), dibutyl phthalate (DBP)) and bisphenol A (BPA), resulting in particular of a decrease in INSL3 (Insulin-Like 3 peptide) production. This hormone is essential for normal testis development and acts on a G protein-coupled receptor: RXFP2.

Nuclear Activation Function 2 Estrogen Receptor α Attenuates Arterial and Renal Alterations Due to Aging and Hypertension in Female Mice.

Background The cardiovascular protective effects of estrogens in premenopausal women depend mainly on estrogen receptor α (ERα). ERα activates nuclear gene transcription regulation and membrane-initiated signaling. The latter plays a key role in estrogen-dependent activation of endothelial NO synthase.

The cytokine profile of follicular fluid changes during ovarian ageing.

Objective: Ovarian ageing is one of the commonest causes of infertility in patients consulting for assisted reproductive technology. The composition of the follicular fluid (FF), which reflects the exchanges between the oocyte and its microenvironment, has been extensively investigated to determine the metabolic pathways involved in various ovarian disorders. Considering the importance of cytokines in folliculogenesis, we focused on the cytokine profile of the FF during ovarian ageing.

The risk of lower-limb superficial vein thrombosis relative to lower-limb venous thrombotic events is not increased in winter months.

Objectives: Ambient temperature (that impacts differently venous flow in superficial and deep veins) could have a different effect on the risk of superficial and deep venous thrombosis. We searched for a trimestral variation of the risk of superficial venous thrombosis among all lower-limb thrombotic events (lower-limb thrombotic events = superficial venous thrombosis + deep venous thrombosis).

Methods: We retrospectively analyzed the results of venous ultrasound investigations performed among 11,739 patients (aged 67 ± 19 years old, 56.

Comparison of exercise oximetry and ankle pressure measurements for patients with intermittent claudication: an observational study of 433 patients.

To study the concordance of exercise-oximetry and of ankle-brachial pressure index (ABI) and ankle pressure (AP) at rest, and after exercise, in patients complaining of vascular-type claudication to diagnose lower extremity artery disease (LEAD). Treadmill test in 433 patients with exercise-oximetry included constant load (3.2 km/h, 10% slope) phase for up to 15 min followed by an increment phase, if necessary.

Pseudoxanthoma Elasticum, Kidney Stones and Pyrophosphate: From a Rare Disease to Urolithiasis and Vascular Calcifications.

Pseudoxanthoma elasticum is a rare disease mainly due to gene mutations and characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in skin, cardiovascular and retinal calcifications. It has been recently described that pyrophosphate (a calcification inhibitor) deficiency could be the main cause of ectopic calcifications in this disease and in other genetic disorders associated to mutations of or . Patients affected by Pseudoxanthoma Elasticum seem also prone to develop kidney stones originating from papillary calcifications named Randall's plaque, and to a lesser extent may be affected by nephrocalcinosis.

Second report of RING finger protein 113A (RNF113A) involvement in a Mendelian disorder.

RING Finger Protein 113 A (RNF113A, MIM 300951) is a highly conserved gene located on chromosome Xq24-q25, encoding a protein containing two conserved zinc finger domains involved in DNA alkylation repair and premessenger RNA splicing. To date, only one pathogenic variant of RNF113A, namely c.901C>T; p.

A pilot study of forearm microvascular impairment and pain while using a telephone.

Objective: To determine if using a telephone can induce forearm pain and ischemia.

Design: Prospective case-control trial.

Setting: Vascular laboratory in the university hospital in Angers between September 2018 and March 2019.

Evidence of Cardiovascular Calcification and Fibrosis in Pseudoxanthoma Elasticum Mouse Models Subjected to DOCA-Salt Hypertension.

Pseudoxanthoma Elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Although arterial hypertension (AHT) has been reported in PXE patients, its impact on pathological manifestations has as yet been unexplored. We investigated the consequences of experimental AHT on Abcc6-/- PXE mouse models.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Pathogenic GFM1 variants have been linked to neurological phenotypes with or without liver involvement, but only a few cases have been reported in the literature. Here, we report clinical, biochemical, and neuroimaging findings from nine unrelated children carrying GFM1 variants, 10 of which were not previously reported. All patients presented with neurological involvement-mainly axial hypotonia and dystonia during the neonatal period-with five diagnosed with West syndrome; two children had liver involvement with cytolysis episodes or hepatic failure.