Phenotypic Heterogeneity of ADTKD-MUC1 Diagnosed Using VNtyper, a Novel Genetic Technique.

Rationale & Objective: Molecular diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) due to variants in the MUC1 gene has long been challenging since variants lie in a large Variable Number of Tandem Repeat (VNTR) region, making identification impossible using standard short read techniques. Previously, we addressed this diagnostic limitation by developing a computational pipeline, named VNtyper, for easier reliable detection of MUC1 VNTR pathogenic variants from short read sequences. This led to unexpected diagnoses of ADTKD-MUC1 among patients with kidney disease referred for genetic testing, which we report here.

Chapter 14: POST-SURGICAL FOLLOW-UP.

Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24 hours to identify patients who will not develop permanent hypoparathyroidism.

The Predictive Value of Criminogenic Needs on Institutional Misconduct in a Dutch Forensic Hospital.

According to the Risk-Need-Responsivity model, criminogenic needs are important in predicting violent behavior. Eight criminogenic needs are considered strong predictors: history of antisocial behavior, antisocial personality traits, criminal attitudes, criminal associates, substance abuse, family problems, poor work performance, and lack of involvement in prosocial leisure/recreation activities. The purpose of the current study was to examine whether seven criminogenic needs predict institutional misconduct in the first year of admission of Dutch patients who were admitted to a forensic hospital.

Soil health in Moroccan olive agroecosystems: The bioindication role of terrestrial nematode dynamics.

Terrestrial nematodes are important soil microorganisms that modulate biological processes in soil ecosystems. Thus, these microorganisms have strong potential as soil health bioindicators. This study aimed to investigate their distribution patterns in Moroccan olive agroecosystems and to evaluate their structural and functional dynamics shaping soil disturbance status.

In Vitro Assessment of Sensitivity to Difenoconazole.

causes blue mold, a major post-harvest disease affecting apples. This disease is commonly managed using fungicides, including Difenoconazole (Dif), a demethylation inhibitor (DMI) approved for its control. This investigation aims to evaluate the baseline sensitivity of 100 isolates to Difenoconazole.

Polarization of circulating follicular helper T cells correlates with bullous pemphigoid severity.

Background: Follicular helper T (Tfh) cells form a distinct population of T-helper cells with different polarizations (type 1, type 2 and type 17) that regulates humoral responses and may participate in the pathophysiology of B-cell-mediated autoimmune diseases such as bullous pemphigoid (BP), a dermatosis mediated by autoantibodies specific for hemi-desmosomal proteins.

Objectives: To evaluate the impact on circulating Tfh cells of super potent topical corticosteroid (TCS) treatment, which is more effective and safer than high doses of oral corticosteroids, and is the recommended first-line treatment of BP.

Methods: Using flow cytometry, we compared the frequency, polarization and activation of Tfh cells in the blood of patients with BP with age- and sex-matched control participants without BP at baseline and longitudinally, after the initiation of TCS treatment.

Exploring the Antifungal Activity of Moroccan Bacterial and Fungal Isolates and a Strobilurin Fungicide in the Control of , the Causal Agent of Tomato Leaf Mold Disease.

The causal agent of tomato leaf mold, , is prevalent in greenhouses worldwide, especially under high humidity conditions. Despite its economic impact, studies on antifungal agents targeting remain limited. This study evaluates biocontrol agents (BCAs) as alternatives to chemical controls for managing this disease, alongside the strobilurin fungicide azoxystrobin.

Are Vestibuloocular Reflex Gain and Dynamic Visual Acuity Responsible of Oscillopsia After Complete Unilateral Vestibular Loss?

Background: Acute and complete unilateral vestibular deafferentation induces a significant change in ipsilateral vestibuloocular reflex gain, making the patient unable to stabilize gaze during active or passive head movements. This inability creates the illusion that the visual environment is moving, resulting in persistent visual discomfort during rapid angular or linear acceleration of the head. This is known as oscillopsia.

CLinical EValuation of WEB 17 device in intracranial aneuRysms (CLEVER): 1-year effectiveness results for ruptured and unruptured aneurysms.

Background: The Woven EndoBridge (WEB) device is designed to treat wide-necked bifurcation aneurysms. The WEB 17 is the latest iteration and can be delivered through a 0.017″ microcatheter.

Synthesis, biological evaluation, theoretical calculations, QSAR and molecular docking studies of novel arylaminonaphthols as potent antioxidants and BChE inhibitors.

A completely green protocol was developed for the synthesis of a series of arylaminonaphthol derivatives in the presence of N-ethylethanolamine (NEEA) as a catalyst under ultrasonic irradiation and solventless conditions. The major assets of this methodology were the use of non-toxic organic medium, available catalyst, mild reaction condition, and good to excellent yield of desired products. All of the synthesized products were screened for their in vitro antioxidant activity using DPPH, ABTS, and Ferric-phenanthroline assays and it was found that most of them are potent antioxidant agents.

HPV-driven oropharyngeal cancer burden in Paris and its region (ILE DE FRANCE) from 1981 TO 2021.

Background: France has the sixth highest incidence of oropharyngeal cancer (OPC) in Europe, but the epidemiological impact of high-risk HPV (HR-HPV) remains poorly documented. The objective of our study was to assess the proportion of OPCs caused by HR-HPV in Paris, and its suburbs, over the four past decades. This area accounts for almost one-fifth of the total population of France.

Efficacy and safety of targeted therapies in VEXAS syndrome: retrospective study from the FRENVEX.

Objectives: Vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease associated with somatic ubiquitin-like modifier-activating enzyme 1 (UBA1) mutations. We aimed to evaluate the efficacy and safety of targeted therapies.

Methods: Multicentre retrospective study including patients with genetically proven VEXAS syndrome who had received at least one targeted therapy.

"The least significant change on bone mineral density scan increased in patients with higher degrees of obesity".

Background: The least significant change (LSC) threshold of 0.03 g/cm² is used to interpret bone mineral density (BMD) scans in the general population. Our working hypothesis was that the current LSC threshold would not be applicable in obese populations.

Cadmium Highlights Common and Specific Responses of Two Freshwater Sentinel Species, and .

Zebra mussel (ZM), , commonly used as a sentinel species in freshwater biomonitoring, is now in competition for habitat with quagga mussel (QM), This raises the question of the quagga mussel's use in environmental survey. To better characterise QM response to stress compared with ZM, both species were exposed to cadmium (100 µg·L), a classic pollutant, for 7 days under controlled conditions. The gill proteomes were analysed using two-dimensional electrophoresis coupled with mass spectrometry.

Stomach size in anorexia nervosa: A new challenge?

Background & Aims: Changes in stomach size may impact eating behaviour. A recent study showed gastric dilatation in restrictive eating disorders using computed tomography scans. This study aimed to describe stomach size in the standing position in women with anorexia nervosa (AN).

Comparative performance of ISAGA IgM and ELISA assays for the diagnosis of maternal and congenital Toxoplasma infections: which technique could replace ISAGA IgM?

The ISAGA immunocapture test for the detection of anti-Toxoplasma immunoglobulin M is a manual technique known for its excellent sensitivity and specificity. The purpose of this retrospective, multicenter study was to compare the performances and agreement between ISAGA and other IgM detection techniques before cessation of ISAGA production. The analytic performance of the different tests was evaluated using 1,341 serum samples from adults with positive IgM and negative IgG to Toxoplasma gondii, and 1,206 sera from neonates born to mothers with seroconversion.

Time Trends in Causes of Death in People With HIV: Insights From the Swiss HIV Cohort Study.

Background: Advancements in access to antiretroviral therapy (ART) and human immunodeficiency virus (HIV) care have led to a decline in AIDS-related deaths among people with HIV (PWH) in Switzerland. However, data on the ongoing changes in causes of death among PWH over the past 15 years are scarce.

Methods: We investigated all reported deaths in the Swiss HIV Cohort Study between 2005 and 2022.

Simultaneous quantification of 55 psychotropic drugs and metabolites in human plasma with a fast UPLC-MS/MS method.

Objectives: Therapeutic drug monitoring is strongly recommended for psychotropic drugs, which present a strong inter- and intra-individual variability due to multiple factors like inflammatory state, smoking, diet, drug interactions due to polypharmacy, and genetic profile. The aim of this study was to develop and validate a fast, simple, and sensitive method allowing the simultaneous quantification of a large number of psychotropic drugs.

Methods: After a simple sample preparation with a one-step protein precipitation, a total of 55 compounds, including 22 antidepressants, 18 antipsychotics, 2 other psychotropic drugs (bupropion and nefopam), and their metabolites, was separated on a Waters Acquity HSS T3 ultra-performance liquid chromatography column, and subsequently detected and quantified by a triple quadrupole Quantis mass spectrometer with electrospray ionization operated in positive mode.

Robotic surgery for inguinal and ventral hernia repair: a systematic review and meta-analysis.

Background: This systematic review and meta-analysis assessed the effectiveness of robotic surgery compared to laparoscopy or open surgery for inguinal (IHR) and ventral (VHR) hernia repair.

Methods: PubMed and EMBASE were searched up to July 2022. Meta-analyses were performed for postoperative complications, surgical site infections (SSI), seroma/hematoma, hernia recurrence, operating time (OT), intraoperative blood loss, intraoperative bowel injury, conversion to open surgery, length of stay (LOS), mortality, reoperation rate, readmission rate, use of opioids, time to return to work and time to return to normal activities.

Effect of oxygen therapy duration on cognitive impairment 12 months after hospitalization for SARS-COV-2 infection.

Objective: To identify predictors of persistent cognitive impairment at 12 months after hospitalization due to COVID-19 (SARS-CoV-2) infection.

Design: Retrospective, single-centre study.

Subjects: All consecutive patients assessed in physical and rehabilitation medicine consultations at 3 months with a neuropsychiatric testing (NPT) at 6 months.