Direct Comparative Analysis of a Pharmacogenomics Panel with PacBio Hifi Long-Read and Illumina Short-Read Sequencing.

Background: Pharmacogenetics (PGx) aims to determine genetic signatures that can be used in clinical settings to individualize treatment for each patient, including anti-cancer drugs, anti-psychotics, and painkillers. Taken together, a better understanding of the impacts of genetic variants on the corresponding protein function or expression permits the prediction of the pharmacological response: responders, non-responders, and those with adverse drug reactions (ADRs).

Objective: This work provides a comparison between innovative long-read sequencing (LRS) and short-read sequencing (SRS) techniques.

Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY.

Purpose: The interim analysis of the phase IIIb LUCY trial demonstrated the clinical effectiveness of olaparib in patients with germline BRCA-mutated (gBRCAm), human epidermal growth factor receptor 2 (HER2)-negative metastatic breast cancer (mBC), with median progression-free survival (PFS) of 8.11 months, which was similar to that in the olaparib arm of the phase III OlympiAD trial (7.03 months).

Performance of [F]fluorocholine PET/CT in MEN1-related primary hyperparathyroidism before initial surgery or for persistent/recurrent disease.

Purpose: The aims of the study were to evaluate the performance and robustness of [F]fluorocholine PET/CT in detecting hyperfunctioning parathyroid glands in MEN1-related primary hyperparathyroidism (pHPT) at different stages of their disease.

Methods: Retrospective French multicenter study including patients with MEN1 pHPT who underwent [F]fluorocholine PET/CT at initial diagnosis or for evaluation of persistent/recurrent disease. PET/CT were independently reviewed by two readers in a blinded manner.

Virological and clinical features of acute respiratory failure associated with COVID-19 in pregnancy: a case-control study.

Pregnancy is a risk factor for acute respiratory failure (ARF) following severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. We hypothesised that SARS-CoV-2 viral load in the respiratory tract might be higher in pregnant intensive care unit (ICU) patients with ARF than in non-pregnant ICU patients with ARF as a consequence of immunological adaptation during pregnancy. Single-centre, retrospective observational case-control study.

Diagnostic challenges and updated therapeutic strategies of Kimura's disease: A case report successfully treated by dupilumab and review.

Rationale: Kimura's disease (KD) is a rare and chronic eosinophilic related-disease, characterized by subcutaneous tissue masses, regional enlarged lymph nodes, hypereosinophilia and elevated serum IgE. KD usually affects young adults in the Asian population. In Western countries, the clinical and biological presentation of KD is often unknown, delaying the diagnosis.

CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.

Background: CDK4/6 inhibitors (CDK4/6i) have been established as standard treatment against advanced Estrogen Receptor-positive breast cancers. These drugs are being tested against several cancers, including in combinations with other therapies. We identified the T172-phosphorylation of CDK4 as the step determining its activity, retinoblastoma protein (RB) inactivation, cell cycle commitment and sensitivity to CDK4/6i.

Comparison and Validation of Rapid Molecular Testing Methods for Theranostic Epidermal Growth Factor Receptor Alterations in Lung Cancer: Idylla versus Digital Droplet PCR.

Targeting EGFR alterations, particularly the L858R (Exon 21) mutation and Exon 19 deletion (del19), has significantly improved the survival of lung cancer patients. From now on, the issue is to shorten the time to treatment. Here, we challenge two well-known rapid strategies for testing: the cartridge-based platform Idylla™ (Biocartis) and a digital droplet PCR (ddPCR) approach (ID_Solution).

Pharmacokinetic Consideration of Venetoclax in Acute Myeloid Leukemia Patients: A Potential Candidate for TDM? A Short Communication.

Background: Venetoclax (VNX)-based regimens have demonstrated significantly favorable outcomes in patients with acute myeloid leukemia (AML) and are now becoming the standard treatment. Tyrosine kinase inhibitors are administered at a fixed dose, irrespective of body surface area or weight. For such orally targeted therapies, real-world data have highlighted a larger pharmacokinetic (PK) interindividual variability (IIV) than expected.

Higher Serum Infliximab Concentrations Following Subcutaneous Dosing are Associated with Deep Remission in Patients with Inflammatory Bowel Disease.

Background: The relationship between subcutaneous infliximab [SC-IFX] concentrations and favourable therapeutic outcomes in patients with Crohn's disease [CD] and ulcerative colitis [UC] remains elusive.

Patients And Methods: This cross-sectional study included consecutive adult patients with inflammatory bowel disease [IBD] treated with SC-IFX at a maintenance dose of 120 mg/2 weeks. Investigated therapeutic outcomes included sustained clinical remission; composite clinical and biomarker remission [clinical remission and C-reactive protein <5 mg/L]; biochemical remission [faecal calprotectin <250 µg/g]; and deep remission [clinical, biological, and biochemical remission].

Cut-off time for surgery and prediction of orchiectomy in spermatic cord torsion: a retrospective multicentric study over 15 years.

Purpose: Cut-off time to avoid orchiectomy relies on small series of patients. The objective was to determine the cut-off time to avoid orchiectomy in torsion of the spermatic cord in a large cohort.

Methods: We performed a retrospective multicenter study (TORSAFUF cohort) of patients with suspected spermatic cord torsion between 2005 and 2019.

Out-of-Pocket Expenses in Households of People Living with Obesity in France.

Background/objectives: Overweight and obesity result in a substantial economic burden in both low- and high-income countries. Moreover, this burden is often underestimated because it only partially accounts for unreimbursed out-of-pocket expenses (OOPE) related to obesity. The objective of our study was not only to evaluate OOPE incurred by people with obesity in relation to their disease with respect to direct medical expenditures and direct non-medical expenditures but also the proportion of people living with obesity who have forgone obesity-related healthcare due to the costs of such care.

Performance of baseline FDG-PET/CT radiomics for prediction of bone marrow minimal residual disease status in the LyMa-101 trial.

The prognostic value of F-Fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) at baseline or the predictive value of minimal residual disease (MRD) detection appear as potential tools to improve mantle cell lymphoma (MCL) patients' management. The LyMa-101, a phase 2 trial of the LYSA group (ClinicalTrials.gov:NCT02896582) reported induction therapy with obinutuzumab, a CD20 monoclonal antibody.

Severe acute herpes virus type 2 primo-infection and its association with anti-type 1 interferon autoantibodies.

Herpes simplex virus type 2 (HSV-2) is a common cause of infection, which is usually self-limited and asymptomatic. A 71-year-old patient with HSV-2 primo-infection developed acute hepatitis and secondary hemophagocytic lymphohistiocytosis. The patient had high levels of autoantibodies against type I interferon (IFN) (> 1000 ng/mL), neutralizing high concentration (10 ng/mL) of both IFN-α and IFN-ω but not IFN-β.

Radiological evaluation of inferior alveolar nerve displacement after removal of impacted mandibular third molars prior to sagittal split osteotomy.

Introduction: We hypothesize that the removal of mandibular third molars (M3) 6 months prior to a bilateral sagittal split osteotomy (BSSO) could allow the displacement of the inferior alveolar nerve (IAN) in a favorable lingual position. This study aimed to radiographically compare the position of IAN before and after M3 removal in patients with Class II malocclusion.

Materials And Method: The CBCT images of 30 randomly selected patients (mean age 15.

Outpatient orthognathic surgery: a prospective study of predictive factors for the length of hospital stays.

Objectives: Transitioning from non-outpatient orthognathic surgery to outpatient surgery is a new challenge, and it is essential to target the eligible population as precisely as possible. Several authors describe series of outpatient orthognathic surgery but do not include the reasons for their success or failure. The main aim of this study was to identify the factors significantly associated with "successful" outpatient orthognathic treatment.

Development of a predictive tool for sacral nerve modulation implantation in the treatment of non-obstructive urinary retention and/or slow urinary stream: a study from the Neuro-Urology Committee of the French Association of Urology.

Purpose: This study aimed to seek predictive factors and develop a predictive tool for sacral nerve modulation (SNM) implantation in patients with non-obstructive urinary retention and/or slow urinary stream (NOUR/SS).

Methods: This study was designed as a retrospective study including all patients who have undergone a two-stage SNM for NOUR/SS between 2000 and 2021 in 11 academic hospitals. The primary outcome was defined as the implantation rate.

Atomoxetine and reward size equally improve task engagement and perceptual decisions but differently affect movement execution.

Our ability to engage and perform daily activities relies on balancing the associated benefits and costs. Rewards, as benefits, act as powerful motivators that help us stay focused for longer durations. The noradrenergic (NA) system is thought to play a significant role in optimizing our performance.

Mandibular Titanium Miniplates Change the Biomechanical Behaviour of the Mandible in the Case of Facial Trauma: A Three-Dimensional Finite Element Analysis.

Our study aimed to compare the biomechanical behaviour of mandibles with or without titanium miniplates when subjected to an impact after bone healing using a finite element model (FEM) of the human mandible. We simulated mandibular trauma on an FEM of a human mandible carrying or not two parasymphyseal miniplates and applying a concentrated force of 2000 N to four different areas, including the insertion area, the area straddling the edge of the miniplates and the adjacent bone, at a distance from the miniplates on the symphysis, and on the basilar border of the mandible below the miniplates. Then, we compared the Von Mises stress distributions between the two models.

Incidence of infections in patients with psoriatic arthritis and axial spondyloarthritis treated with biological or targeted disease-modifying agents: a systematic review and meta-analysis of randomised controlled trials, open-label studies and observational studies.

Objective: To estimate the incidence of infections among patients with psoriatic arthritis (PsA) or axial spondyloarthritis (axSpA), two distinct phenotypes included in the large group of spondyloarthritis (SpA), treated with tumour necrosis-factor-inhibitors, interleukin-17-inhibitors, Janus kinase-inhibitors, IL-23 or IL-12/23-inhibitors (IL-12/23i), phosphodiesterase 4-inhibitors or cytotoxic T-lymphocyte associated protein 4-Ig.

Methods: A meta-analysis of randomised controlled trials (RCTs), open-label extension and observational studies was conducted. Serious infections were defined as infections that were life-threatening, required intravenous antibiotics and/or hospitalisation.

Axicabtagene ciloleucel as second-line therapy in large B cell lymphoma ineligible for autologous stem cell transplantation: a phase 2 trial.

Axicabtagene ciloleucel (axi-cel) demonstrated superior efficacy compared to standard of care as second-line therapy in patients with high-risk relapsed/refractory (R/R) large B cell lymphoma (LBCL) considered eligible for autologous stem cell transplantation (ASCT); however, in clinical practice, roughly half of patients with R/R LBCL are deemed unsuitable candidates for ASCT. The efficacy of axi-cel remains to be ascertained in transplant-ineligible patients. ALYCANTE, an open-label, phase 2 study, evaluated axi-cel as a second-line therapy in 62 patients with R/R LBCL who were considered ineligible for ASCT.