A novel heterozygous likely pathogenic SLC5A2 variant in a diabetic patient with glucosuria and aminoaciduria.

Summary: Familial renal glucosuria (FRG) is a rare renal tubular disorder characterized by increased urinary glucose excretion despite normoglycemia. It is most commonly caused by pathogenic variants in the solute carrier family V member 2 (SLC5A2) gene. This gene encodes the sodium-glucose cotransporter 2, crucial for glucose reabsorption.

Prevalence of Liver Steatosis in Tuberous Sclerosis Complex Patients: A Retrospective Cross-Sectional Study.

Tuberous sclerosis complex (TSC) is a genetic disease caused by pathogenetic variants in either the or genes. Consequently, the mechanistic target of the rapamycin complex 1 (mTORC1) pathway, a regulator of cell growth, metabolism, and survival, becomes inappropriately activated, leading to the development of benign tumors in multiple organs. The role of mTORC1 in lipid metabolism and liver steatosis in TSC patients has not been well-studied, and clinical data on liver involvement in this population are scarce.

Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the presence of proliferative lesions throughout the body. Management of TSC is challenging because patients have a multifaceted systemic illness with prominent neurological and developmental impact as well as potentially severe kidney, heart and lung phenotypes; however, every organ system can be involved. Adequate care for patients with TSC requires a coordinated effort involving a multidisciplinary team of clinicians and support staff.

When sequential use of mepolizumab and dupilumab in a severe atopic eosinophilic asthmatic questions the role of eosinophils in mediating the clinical expression of the disease: a case report.

Background: The advent of biologics has resulted in major progress in the treatment of severe T2 high asthmatics. There are currently several classes of biologics approved for severe asthma including anti-immunoglobulin E, anti-interleukin-5/interleukin 5R, anti-interleukin 4/interleukin 13R, and anti-thymic stromal lymphopoietin.

Case Presentations: Here we report the case of a 55-year-old Caucasian man with severe eosinophilic atopic asthma, who sequentially benefited from a treatment with mepolizumab, an anti-interleukin-5 monoclonal antibody, followed by treatment with dupilumab, an anti-interleukin-4/interleukin-13R antibody, the switch being justified by a flare-up of dermatitis while on mepolizumab.

Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.

Background: Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder, associated with tumor growth in various organ systems, epilepsy, and a range of neuropsychiatric manifestations including intellectual disability. With improving patient-centered care and targeted therapies, patient-reported outcome measures (PROMs) are needed to measure the impact of TSC manifestations on daily functioning. The aim of this study was to develop a TSC-specific PROM for adults that captures the impact of TSC on physical functions, mental functions, activity and participation, and the social support individuals with TSC receive, called the TSC-PROM.

A survey on the availability of geriatric-friendly protocols, equipment and physical environment across emergency departments in Flanders, Belgium.

Background: The acquisition of geriatric-friendly resources is an important part of adapting emergency department (ED) care to the needs of vulnerable older patients. The aim of this study was to explore the availability of geriatric-friendly protocols, equipment and physical environment criteria in EDs and to identify related improvement opportunities.

Methods: The head nurse of 63 EDs in Flanders and Brussels Capital Region was invited to complete a survey in collaboration with the chief physician of the ED.

Low agreement between various eGFR formulae in pediatric and young adult ADPKD patients.

Background: Young autosomal dominant polycystic kidney disease (ADPKD) patients are becoming the new target population for the development of new treatment options. Determination of a reliable equation for estimated glomerular filtration rate (eGFR) from early stages is needed with the promising potential interventional therapies.

Methods: Prospective and longitudinal study on a cohort of 68 genotyped ADPKD patients (age range 0-23 years) with long-term follow-up.

Risk Severity Model for Pediatric Autosomal Dominant Polycystic Kidney Disease Using 3D Ultrasound Volumetry.

Background: Height-adjusted total kidney volume (htTKV) measured by imaging defined as Mayo Imaging Class (MIC) is a validated prognostic measure for autosomal dominant polycystic kidney disease (ADPKD) in adults to predict and stratify disease progression. However, no stratification tool is currently available in pediatric ADPKD. Because magnetic resonance imaging and computed tomography in children are difficult, we propose a novel 3D ultrasound-based pediatric Leuven Imaging Classification to complement the MIC.

On Methods for the Measurement of the Apelin Receptor Ligand Apelin.

Apelin exists in many isoforms, both in the circulation and in specific tissues. Apelin peptides have a short half-life but preservation before measurement is scarcely studied. Reproducible mass spectrometry methods to specifically measure a broad range of apelinergic peptide isoforms are currently lacking.

Intracervical insemination versus intrauterine insemination with cryopreserved donor sperm in the natural cycle: a randomized controlled trial.

Study Question: Is intracervical insemination (ICI) non-inferior to IUI with cryopreserved donor sperm in the natural cycle in terms of live birth?

Summary Answer: ICI with cryopreserved donor sperm in the natural cycle was inferior to IUI in terms of live birth.

What Is Known Already: Both ICI and IUI in the natural cycle are performed as first-line treatments in women who are eligible for donor sperm treatment. High-quality data on the effectiveness of ICI versus IUI with cryopreserved donor sperm in the natural cycle in terms of live birth is lacking.

Malt and Hop as Sources of Thiol -Conjugates: Thiol-Releasing Property of Lager Yeast during Fermentation.

The contribution of polyfunctional thiols (PFTs) to the overall flavor of a lager beer has been well documented, but their origin remains unclear. In comparison with strains previously investigated (same conditions: 7 days at 24 °C, 3 days at 4 °C), we examined how yeasts are able to produce these PFTs from cysteinylated (Cys-) and glutathionylated (G-) conjugates. Up to 0.

Interdependent Regulation of Polycystin Expression Influences Starvation-Induced Autophagy and Cell Death.

Autosomal dominant polycystic kidney disease (ADPKD) is mainly caused by deficiency of polycystin-1 (PC1) or polycystin-2 (PC2). Altered autophagy has recently been implicated in ADPKD progression, but its exact regulation by PC1 and PC2 remains unclear. We therefore investigated cell death and survival during nutritional stress in mouse inner medullary collecting duct cells (mIMCDs), either wild-type (WT) or lacking PC1 (PC1KO) or PC2 (PC2KO), and human urine-derived proximal tubular epithelial cells (PTEC) from early-stage ADPKD patients with PC1 mutations versus healthy individuals.

What extreme laboratory values can be obtained that (some) patients can survive with?

Objectives: We wanted to have a more substantiated idea about the extreme values which are possible in patients not dying or being moribund.

Methods: for nine regular analytes the five most extreme results registered between 2014 and 2018 in our database were searched. Results had to have been confirmed by multiple analyses in different samples.

Enhanced MCP-1 Release in Early Autosomal Dominant Polycystic Kidney Disease.

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) causes kidney failure typically in adulthood, but the disease starts . Copeptin, epidermal growth factor (EGF), and monocyte chemoattractant protein-1 (MCP-1) are associated with severity and hold prognostic value in adults but remain unstudied in the early disease stage. Kidneys from adults with ADPKD exhibit macrophage infiltration, and a prominent role of MCP-1 secretion by tubular epithelial cells is suggested from rodent models.

Modulation of the Sulfanylalkyl Acetate/Alcohol Ratio and Free Thiol Release from Cysteinylated and/or Glutathionylated Sulfanylalkyl Alcohols in Beer under Different Fermentation Conditions.

The occurrence of a substantial pool of cysteinylated and glutathionylated forms of polyfunctional thiols has been evidenced for several dual-purpose hop varieties, and so is the ability of yeast to release free thiols from these forms through fermentation. The present work aimed to investigate the effect of temperature, wort density, maturation time, and strain on the efficiency of free thiol release by yeasts. Model media at 12, 15, or 17°P were spiked with three cysteinylated (Cys-) or three glutathionylated (G-) sulfanylalkyl alcohols (Cys- or G-3-sulfanylpentan-1-ol, 3-sulfanyl-4-methylpentan-1-ol, and 3-sulfanylhexan-1-ol), fermented for 7 days at 18, 24, and 28 °C, and kept at 4 °C for varying number of days.

The emerging role of the apelinergic system in kidney physiology and disease.

The apelinergic system (AS) is a novel pleiotropic system with an essential role in renal and cardiovascular physiology and disease, including water homeostasis and blood pressure regulation. It consists of two highly conserved peptide ligands, apelin and apela, and a G-protein-coupled apelin receptor. The two ligands have many isoforms and a short half-life and exert both similar and divergent effects.

Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers.

Retrospective chart reviews have reported hypophosphatemia associated with elemental formula use in infants and children with systemic disease involving multiple diagnoses. The present study aims to evaluate the bioavailability of phosphorus from 2 commercial elemental formulas and to test our hypothesis of bioequivalence of the 2 products in healthy volunteers receiving gastric acid-suppressive medication. A single-center, double-blind, randomized, cross-over study was conducted in healthy volunteers with esomeprazole-induced hypochlorhydria.

Time intervals between semen production, initiation of analysis, and IUI significantly influence clinical pregnancies and live births.

Purpose: Does IDEF mapping help monitor the technical process of IUI and explore the potential improvements which might contribute to increased pregnancy and live birth rates?

Method: Retrospective analysis of 1729 homologous IUI cycles of couples attending a fertility clinic in a university hospital setting. Standardized conventional semen parameters were analyzed and the semen samples prepared via discontinuous density gradient centrifugation.

Results: There was no significant association between sperm concentration, motility and morphology (analysis phase), and pregnancy outcome.

Screening of pharmaceutical polymers for extrusion-Based Additive Manufacturing of patient-tailored tablets.

The main objective of this work was to explore the potential of coupling hot-melt extrusion (HME) to Fused Filament Fabrication (FFF), also known as Extrusion-Based Additive Manufacturing (EBAM) or 3D Printing, in order to manufacture 3D printed tablets with different release behavior from plasticizer-free filament matrices. The suitability of different thermoplastic polymers towards FFF was investigated, and a link between the mechanical properties of filaments produced by HME and the feeding performance into the FFF printer was established. Model drugs with different aqueous solubility (metoprolol tartrate and theophylline anhydrous) were processed with hydrophilic and hydrophobic polymers, and the influence of the formulation, drug concentration and applied process settings on the release kinetics was investigated.

Implications of early diagnosis of autosomal dominant polycystic kidney disease: A post hoc analysis of the TEMPO 3:4 trial.

It is unknown whether early diagnosis of autosomal dominant polycystic kidney disease (ADPKD) can enable earlier management and improve outcomes. We conducted a post hoc analysis of data from the TEMPO 3:4 trial. Subjects were stratified by ADPKD diagnosis at age ≤18 (childhood diagnosis [CD]) or>18 (adulthood diagnosis [AD]).

The AID study: protocol for a randomised controlled trial of intrauterine insemination in the natural cycle compared with intracervical insemination in the natural cycle.

Introduction: At present, studies comparing intrauterine insemination in the natural cycle versus intracervical insemination in the natural cycle in women undergoing artificial insemination with donor sperm are scarce.

Methods And Analysis: We perform a randomised controlled non-inferiority trial among five secondary and tertiary fertility clinics in the Netherlands and one tertiary fertility clinic in Belgium. Women eligible for artificial insemination with donor sperm are included.