SPOON: an observational, cross-sectional study of perceptions and expectations of adults with generalised myasthenia gravis in France.

Objectives: To capture patient perceptions about living with myasthenia gravis (MG) with respect to aspirations and ways to improve treatment.

Design: Online patient survey.

Setting: Patients recruited by MG patient associations or at MG reference treatment centres.

Patients' Representations of Perceived Distance and Proximity to Telehealth in France: Qualitative Study.

Background: In the last 2 decades, new technologies have emerged in health care. The COVID-19 pandemic further accelerated the adoption of technology by both health care professionals and patients. These technologies create remote care practices that bring several benefits to the health care system: easier access to care, improved communication with physicians, and greater continuity of care.

The Mineralocorticoid Receptor on Smooth Muscle Cells Promotes Tacrolimus-Induced Renal Injury in Mice.

Tacrolimus (Tac) is a calcineurin inhibitor commonly used as an immunosuppressor after solid organ transplantation. However, Tac may induce hypertension, nephrotoxicity, and an increase in aldosterone levels. The activation of the mineralocorticoid receptor (MR) is related to the proinflammatory status at the renal level.

Neddylation inhibition sensitises renal medullary carcinoma tumours to platinum chemotherapy.

Background: Renal medullary carcinoma (RMC) is a highly aggressive cancer in need of new therapeutic strategies. The neddylation pathway can protect cells from DNA damage induced by the platinum-based chemotherapy used in RMC. We investigated if neddylation inhibition with pevonedistat will synergistically enhance antitumour effects of platinum-based chemotherapy in RMC.

How useful is an oral calcium load test for diagnosing recurrent calcium stone formers?

Hypercalciuria is the main risk factor for recurrent calcium urolithiasis. The goal of our study is to determinate how useful an oral calcium load test is for stone formers to classify different forms of hypercalciuria in pathogenetic categories defined as renal or absorptive according to the current knowledge. Between June 2013 and February 2016, a prospective study was carried out on 117 documented recurrent hypercalciuric stone formers undergoing an oral calcium load test modified from the original description by Pak.

Association of High-Intensity Exercise with Renal Medullary Carcinoma in Individuals with Sickle Cell Trait: Clinical Observations and Experimental Animal Studies.

Renal medullary carcinoma (RMC) is a lethal malignancy affecting individuals with sickle hemoglobinopathies. Currently, no modifiable risk factors are known. We aimed to determine whether high-intensity exercise is a risk factor for RMC in individuals with sickle cell trait (SCT).

Kidney function monitoring in inflammatory bowel disease: The MONITORED consensus.

Background And Aims: Patients with inflammatory bowel diseases (IBD) are exposed to drug-related nephrotoxicity and kidney-related extra-intestinal manifestations (EIMs). Patients should be monitored but guidance is lacking in current international recommendations. The objective of the Kidney Function Monitoring in Inflammatory Bowel Disease (MONITORED) initiative was to achieve an expert consensus about monitoring kidney function in IBD.

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

This European expert consensus statement provides recommendations for the diagnosis and management of primary hyperparathyroidism (PHPT), chronic hypoparathyroidism in adults (HypoPT), and parathyroid disorders in relation to pregnancy and lactation. Specified areas of interest and unmet needs identified by experts at the second ESE Educational Program of Parathyroid Disorders (PARAT) in 2019, were discussed during two virtual workshops in 2021, and subsequently developed by working groups with interest in the specified areas. PHPT is a common endocrine disease.

Sodium Bicarbonate Prescription and Extracellular Volume Increase: Real-world Data Results from the AlcalUN Study.

Oral alkalization with sodium bicarbonate (NaHCO ) or citrate is prescribed for conditions ranging from metabolic acidosis to nephrolithiasis. Although most nephrologists/urologists use this method routinely, extracellular volume (ECV) increase is the main feared adverse event reported for NaHCO . Thus far, no trial has specifically studied this issue in a real-world setting.

A cytoskeletal function for PBRM1 reading methylated microtubules.

Epigenetic effectors "read" marks "written" on chromatin to regulate function and fidelity of the genome. Here, we show that this coordinated read-write activity of the epigenetic machinery extends to the cytoskeleton, with PBRM1 in the PBAF chromatin remodeling complex reading microtubule methyl marks written by the SETD2 histone methyltransferase. PBRM1 binds SETD2 methyl marks via BAH domains, recruiting PBAF components to the mitotic spindle.

Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma.

Renal medullary carcinoma (RMC) is a highly lethal malignancy that mainly afflicts young individuals of African descent and is resistant to all targeted agents used to treat other renal cell carcinomas. Comprehensive genomic and transcriptomic profiling of untreated primary RMC tissues was performed to elucidate the molecular landscape of these tumors. We found that RMC was characterized by high replication stress and an abundance of focal copy-number alterations associated with activation of the stimulator of the cyclic GMP-AMP synthase interferon genes (cGAS-STING) innate immune pathway.

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.

Introduction: Anion exchanger 1 (AE1) ( gene product) is a membrane protein expressed in both kidney and red blood cells (RBCs): it exchanges extracellular bicarbonate (HCO ) for intracellular chloride (Cl) and participates in acid-base homeostasis. AE1 mutations in kidney α-intercalated cells can lead to distal renal tubular acidosis (dRTA). In RBC, AE1 (known as band 3) is also implicated in membrane stability: deletions can cause South Asian ovalocytosis (SAO).

[Amending of the 3rd cycle of medical studies in France: What the nephrologists stand for].

2017 was the year during which France has seen the amendment of the 3rd cycle of medical education. Three new steps have been uploaded: "basement", "in depth", and "liability". The latter has been particularly discussed as it is really close to the former post-graduate state.

Hepatic Tumor Formation in Adult Mice Developmentally Exposed to Organotin.

Background: Tributyltin (TBT) is a persistent and bioaccumulative environmental toxicant. Developmental exposure to TBT has been shown to cause fatty liver disease (steatosis), as well as increased adiposity in many species, leading to its characterization as an obesogen.

Objective: We aimed to determine the long-term effects of developmental TBT exposure on the liver.

Tubular Acidification Defect in Adults with Sickle Cell Disease.

Background And Objectives: Metabolic acidosis is a frequent manifestation of sickle cell disease but the mechanisms and determinants of this disorder are unknown. Our aim was to characterize urinary acidification capacity in adults with sickle cell disease and to identify potential factors associated with decreased capacity to acidify urine.

Design, Setting, Participants, & Measurements: Among 25 adults with sickle cell disease and an eGFR of ≥60 ml/min per 1.

[e-Health in nephrology: 1 French survey on telenephrology].

The number of new patients with chronic kidney diseases strongly increases while the one of nephrologists does not: this is developing new challenges, in which e-health will take a special part. This field is poorly investigated: so, we developed a dedicated survey. Telenephrology is a new approach that includes all what nephrologists can do in their routine practice: especially, telehealth with teleconsulting, telesurvey, and helpline.

[Discrepancies (and confluences) in perception between patients and nephrologists of chronic kidney disease impact on vital impetus in adults not undergoing hemodialysis: Results of the French MAEVA study].

Rationale: The impact of chronic kidney disease (CKD) on vital impetus is poorly documented in patients not undergoing renal dialysis and discrepancies can be observed between patients and physicians in perception of QoL and impact of the disease.

Methods: A self-questionnaire was sent to 1282 French nephrologists and a mirrored self-questionnaire was given to patients (CKD stage 3, 4 or 5) by their nephrologist. Data were collected prospectively and anonymously.