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.

Cardiogenic shock in patients with active onco-hematological malignancies: A multicenter retrospective study.

Purpose: Onco-hematological (OH) patients face significant cardiovascular risks due to malignancy and drug toxicity. Data are limited on the characteristics and outcomes of OH patients with cardiogenic shock (CS) in intensive care units (ICUs).

Methods: This multicenter retrospective study included 214 OH patients with CS across 22 ICUs (2010-2021).

Isatuximab, Carfilzomib, Lenalidomide, and Dexamethasone Induction in Newly Diagnosed Myeloma: Analysis of the MIDAS Trial.

In patients with transplant-eligible newly diagnosed multiple myeloma, induction therapy with a quadruplet regimen prior to autologous transplant is the standard of care. The phase III IFM2020-02-MIDAS study (NCT04934475) assessed a minimal residual disease (MRD)-driven consolidation and maintenance strategy following induction with isatuximab, carfilzomib, lenalidomide, and dexamethasone (IsaKRD). Here, we report safety and efficacy outcomes of six 28-day cycles of IsaKRD.

Circulating growth differentiation factor-15 levels are associated with early echocardiographic signs of diastolic function impairment in the STANISLAS cohort: A 20-year follow-up study.

Aims: Early identification of healthy subjects prone to develop cardiac dysfunction may be instrumental to prevention strategies. Our study aimed to evaluate whether circulating levels of growth differentiation factor-15 (GDF-15) could predict adverse changes in echocardiographic indexes of cardiac structure and function in an initially healthy populational familial cohort with a long follow-up (STANISLAS cohort).

Methods And Results: We evaluated 1679 participants (49 ± 14 years, 48% males) included in the fourth visit (V4) of the STANISLAS cohort with available GDF-15 measurements (Olink proteomic analysis) and echocardiographic parameters.

Clinical impact of an explainable machine learning with amino acid PET imaging: application to the diagnosis of aggressive glioma.

Purpose: Radiomics-based machine learning (ML) models of amino acid positron emission tomography (PET) images have shown efficiency in glioma prediction tasks. However, their clinical impact on physician interpretation remains limited. This study investigated whether an explainable radiomics model modifies nuclear physicians' assessment of glioma aggressiveness at diagnosis.

Return to work after primary total knee replacement in patients under 55 years of age: a retrospective study of 129 cases.

Introduction: Primary total knee arthroplasty (TKA) has shown excellent results in the treatment of osteoarthritis, and its indications have now been extended to younger patients of working age. Few articles in the literature have studied the return to work of young subjects, and no specific studies have been conducted in France. Therefore, we carried out a retrospective study to 1) investigate the rate and delay of return to work after primary TKA in a population under 55 years of age and 2) identify factors influencing early return to work before 3 months, the period usually used as the duration of initial work stoppage (TS).

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in and management recommendations.

Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.

Quantifying the potential contribution of drugs to the occurrence of acute kidney injury in patients with chronic kidney disease.

Background: We sought to comprehensively describe drug-related components associated with acute kidney injury (AKI) in patients with chronic kidney disease (CKD), describing the incidence of drug-related AKI, the proportion of preventable AKI, identified the various drugs potentially associated with it, explored the risk factors, and assessed the 1-year incidences of the recurrence of drug-related AKI, kidney failure, and death.

Methods: CKD-REIN is a French national prospective cohort of 3033 nephrology outpatients with a confirmed diagnosis of CKD (eGFR <60 ml/min/1.73 m²).

Association between urate-lowering therapy and kidney failure in patients with chronic kidney disease.

Background: Hyperuricemia is a hallmark of gout and a suspected risk factor for the progression of chronic kidney disease (CKD). However, the impact of urate-lowering therapy on CKD progression is subject to debate. The objective of the present study was to describe the prevalence of inappropriate urate-lowering therapy prescriptions and evaluate the association between urate-lowering therapy prescription and the progression of kidney disease in patients with CKD.

Herpetic Meningoencephalitis Complicating the Resection of a Vestibular Schwannoma: A Case Report.

After surgery involving cranial nerves and more generally the central nervous system, nonbacterial meningitis should raise suspicion of herpes simplex virus type 1 reactivation. No time should be wasted in diagnosis and treatment; therefore, a polymerase chain reaction testing on cerebrospinal fluid should be systematic in this situation, without neglecting to consider other differential diagnoses.

Iberdomide, ixazomib and dexamethasone in elderly patients with multiple myeloma at first relapse.

Most transplant-ineligible patients present with multiple myeloma (MM) refractory to lenalidomide and/or anti-CD38 monoclonal antibody at first relapse and represent a difficult-to-treat population. The Intergroupe Francophone du Myélome phase 2 study iberdomide, ixazomib and dexamethasone (I2D) evaluated the oral triplet iberdomide, ixazomib and dexamethasone in MM patients aged ≥70 years at first relapse (NCT04998786). Seventy patients were enrolled to receive iberdomide (1.

How to Teach Clinical Reasoning in the Context of Rare Diseases in Undergraduate Medical Education.

While rare diseases are individually rare, they are collectively common. Physicians are likely to see patients presenting with rare diseases during their medical practice. Despite the fact that rare diseases present diagnostic and therapeutic challenges, they are not sufficiently addressed by undergraduate medical curricula.

Re-rupture rate and complications after percutaneous Tenolig® repair in acute midsubstance rupture of Achilles tendon.

Purpose: Acute midsubstance Achilles tendon ruptures are the most common tendon injuries in adults and the choice of surgical technique is still debated. The objective of this study is to evaluate the rate of iterative ruptures and postoperative complications at a minimum follow-up of one year of percutaneous sutures of the Achilles tendon, as well as to investigate the risk factors for rupture.

Methods: In this single-center retrospective study, 142 patients (119 men and 23 women, mean age of 46 years) were reviewed at a mean follow-up of 24 (12-38) months.

[Vaccination of children and adolescents treated for acute leukemia, excluding HSCT recipients: Recommendations of the French Society for Childhood and Adolescent Cancer and Leukemia (SFCE)].

Children and adolescents who are being treated or have been treated for acute leukemia have a secondary immunodeficiency linked to chemotherapy, resulting in an increased risk of infections. Some of which can be prevented by vaccination but its effectiveness is not optimal during chemotherapy. Upon cessation of chemotherapy, the time required for immune reconstitution varies from three months to more than a year, depending on lymphocyte subpopulations, the patient's age, and the intensity of the treatment received.

Acute Severe Ulcerative Colitis: An International Delphi Consensus on Clinical Trial Design and Endpoints.

Background & Aims: Interventional clinical trials in acute severe ulcerative colitis (ASUC) are characterized by substantial heterogeneity due to a lack of consensus in several key areas of trial design-this impedes clinical research efforts to identify novel therapies. The objective of this initiative was to achieve the first consensus and provide clear position statements on ASUC trial design.

Methods: A modified Delphi consensus approach was employed with a panel of 20 clinicians with international representation and expertise in ASUC trial design and delivery.

Comparison between three abbreviated methods for the diagnosis of obstructive sleep apnea syndrome in children and adolescents in a real-world setting - a prospective study using polysomnography.

Background: Oximetry was proposed as an abbreviated exam, easily accepted by the child, for the diagnosis of obstructive sleep apnea (OSA) for children located in regions where access to pediatric sleep labs is limited. The objective of this study was to determine the diagnostic value of the oxygen desaturation index (ODI), the number of ≥ 3% oxygen desaturations per hour of recording, obtained by portable oximetry performed in parallel with video-polysomnography (PSG), in a cohort of children, with and without comorbidities, referred for OSA.

Methods: Data from portable oximetry performed in parallel with PSG were prospectively collected.

Health-related quality of life, social and psychological well-being of 109 adult patients with genetic lipodystrophy.

Introduction: Lipodystrophy syndromes are rare diseases characterized by a generalized or partial lipoatrophic morphotype and metabolic complications. Data on health-related quality of life and impact of genetic lipodystrophy on social or psychological well-being are lacking.

Patients And Methods: Patients with genetic lipodystrophy were recruited throughout the French national reference network for rare diseases of insulin secretion and insulin sensitivity.

Neuropsychological profile of French adults with early-treated phenylketonuria: a multicenter study.

Background And Objective: Adult patients with early-treated phenylketonuria (AwET-PKU) may present some subtle neurocognitive deficits. The aim of the study was to investigate 1) neurocognitive functions in a large group of AwET-PKU 2) the influence of plasma phenylalanine (Phe).

Methods: Participants: 187 AwET-PKU (classic PKU [cPKU] 81%, mild PKU [mPKU] 14%, and mild persistent hyperphenylalaninemia [MPH] 5%).

Pulmonary fibrosis in patients with autoimmune pulmonary alveolar proteinosis: a retrospective nationwide cohort study.

Background: Autoimmune pulmonary alveolar proteinosis (aPAP) is a rare disease that may progress towards pulmonary fibrosis. Data about fibrosis prevalence and risk factors are lacking.

Methods: In this retrospective multicentre nationwide cohort, we included patients newly diagnosed with aPAP between 2008 and 2018 in France and Belgium.

Evaluating the added-value of video recording in respiratory polygraphy for the diagnosis of obstructive sleep apnea in children.

Polysomnography (PSG) is the gold standard for diagnosing obstructive sleep apnea (OSA) in children but not always available. Abbreviated exams exist, such as respiratory polygraphy (RP), but are less accurate for OSA diagnosis. Video recording (video-RP) may provide a more precise estimation of the total sleep time (TST) compared to RP alone.

Top-down infliximab plus azathioprine versus azathioprine alone in patients with acute severe ulcerative colitis responsive to intravenous steroids: a parallel, open-label randomised controlled trial, the ACTIVE trial.

Background: It is unknown which maintenance therapy is the most effective option for patients admitted for an acute severe ulcerative colitis (ASUC) episode responding to intravenous steroids.

Methods: We conducted a multicentre, parallel-group, open-label randomised controlled trial among 23 French centres in thiopurine and biologics-naïve adults admitted for ASUC responding to intravenous steroids. Eligible patients were randomly assigned to receive infliximab (IFX) and azathioprine (AZA) with a 7-day steroid tapering scheme (IFX+AZA arm) or AZA and conventional standardised steroid tapering regimen (AZA arm).