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.

Treatment strategies to reduce cardiovascular risk in persons with chronic kidney disease and Type 2 diabetes.

Chronic kidney disease (CKD) is a prevalent and progressive condition associated with significant mortality and morbidity. Diabetes is a common cause of CKD, and both diabetes and CKD increase the risk of cardiovascular disease (CVD), the leading cause of death in individuals with CKD. This review will discuss the importance of early detection of CKD and prompt pharmacological intervention to slow CKD progression and delay the development of CVD for improving outcomes.

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 kidney injury as a key predictor of cardiovascular events in chronic kidney disease patients: the CKD-REIN study.

Background And Hypothesis: Cardiovascular diseases are a leading cause of morbidity and mortality in patients with chronic kidney disease (CKD). Acute kidney injury (AKI) has been increasingly recognized as a potential exacerbating factor for cardiovascular events in these patients. The CKD-REIN study aims to explore the relationship between AKI and the risk of major adverse cardiovascular events (MACE) in a cohort of CKD patients.

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.

Liver venous deprivation (LVD) before extended hepatectomy: a French multicentric retrospective cohort.

Background: Post-hepatectomy liver failure (PHLF) is the first cause of death after major hepatectomy, and future liver remnant (FLR) volume is the main factor predicting PHLF. Liver venous deprivation (LVD) via portal and hepatic vein embolization has been suggested to induce a better hypertrophy of the FLR than portal vein embolization. The aim of this retrospective multicentric study was to assess safety, feasibility and efficacity of LVD in a French national multicentric register.

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.

The efficacy and safety of first-line metastatic melanoma treatment with ipilimumab + nivolumab versus nivolumab in a real-world setting.

Background: The Checkmate 067 randomized controlled trial, published in 2015, demonstrated improved progression-free survival and numerically, although not statistically, superior overall survival for ipilimumab + nivolumab. The objective of this study was to compare the efficacy and safety of nivolumab to ipilimumab + nivolumab as first-line treatment for metastatic melanoma in a real-world setting.

Methods: Patients were prospectively included in the French Melbase cohort from 2013 to 2022.

Mineralocorticoid Receptor and Sleep Quality in Chronic Kidney Disease.

The classical function of the mineralocorticoid receptor (MR) is to maintain electrolytic homeostasis and control extracellular volume and blood pressure. The MR is expressed in the central nervous system (CNS) and is involved in the regulation of the hypothalamic-pituitary-adrenal (HPA) axis as well as sleep physiology, playing a role in the non-rapid eye movement (NREM) phase of sleep. Some patients with psychiatric disorders have very poor sleep quality, and a relationship between MR dysregulation and this disorder has been found in them.

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).

Thyroidectomy without radioiodine in patients with low-risk thyroid cancer: 5 years of follow-up of the prospective randomised ESTIMABL2 trial.

Background: ESTIMABL2, a multicentre randomised phase 3 trial in patients with low-risk differentiated thyroid cancer (ie, pT1am or pT1b, N0 [no evidence of regional nodal involvement] or Nx [involvement of regional lymph nodes that cannot be assessed in the absence of neck dissection]), showed the non-inferiority of a follow-up strategy without radioactive iodine (I) administration compared with a postoperative I administration at 3 years post-randomisation. Here, we report a pre-specified analysis after 5 years of follow-up.

Methods: Patients treated with total thyroidectomy with or without prophylactic neck lymph node dissection, without postoperative suspicious findings on neck ultrasonography, were randomly assigned to the no-radioiodine group or to the radioiodine group (1·1 GBq-30 mCi after recombinant human thyrotropin-stimulating hormone).

Ceramide and phosphatidylcholine lipids-based risk score predicts major cardiovascular outcomes in patients with heart failure.

Background: Ceramide and phosphatidylcholine lipids-based risk score (CERT2) has shown a strong prognostic value in predicting cardiovascular (CV) events in patients with ischemic heart disease. This study aimed to investigate the prognostic value of CERT2 risk score in patients with heart failure (HF).

Methods: The current study combines data for 4234 subjects from the COMMANDER-HF trial and 1227 subjects from the GISSI-HF trial, which enrolled patients with a history of HF.

Laboratory practices for the diagnosis and management of mucormycosis in France, 2024.

This study investigates the diagnostic practices for mucormycosis among 30 French University Hospital mycology laboratories, in 2024. All laboratories perform both direct examination and culture, with fluorescent brighteners being the most commonly used method for direct examination. While 77 % of the participating laboratories routinely identify Mucorales to the species level, with 70 % having adopted Mucorales-specific quantitative PCR, primarily for the diagnosis of invasive fungal infections.

Measurement of Cumulative Drug Exposure from Clinical Data Warehouse.

Polypharmacy (PP) and hyperpolypharmacy (HPP), are prevalent among cancer patients and are associated with an increased risk of drug-drug interactions (DDI) and potentially inappropriate medications (PIM). This study aimed to characterize PP, HPP, DDI, and PIM in patients with hematological malignancies hospitalized for hematopoietic stem cell transplantation (HSCT) by introducing a novel metric: cumulative drug exposure. Clinical data warehouse (CDW) records were employed to develop algorithms that quantified patients' cumulative exposure to these prescribing determinants during hospitalization.