Chapter 6: SYNDROMIC PRIMARY HYPERPARATHYROIDISM.

Syndromic primary hyperparathyroidism has several features in common: younger age at diagnosis when compared with sporadic primary hyperparathyroidism, often synchronous or metachronous multi-glandular involvement, higher possibility of recurrence, association with other endocrine or extra-endocrine disorders, and suggestive family background with autosomal dominant inheritance. Hyperparathyroidism in multiple endocrine neoplasia type 1 is the most common syndromic hyperparathyroidism. It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss.

Left ventricular diastolic dysfunction is prevalent but not associated with mortality in patients with septic shock.

Purpose: Prognostic impact of left ventricular diastolic dysfunction (LVDD) in septic shock patients has not been determined using current diagnostic guidelines. We assessed the relation between LVDD during the first 3 days following intensive care unit (ICU) admission for septic shock and Day-28 mortality.

Methods: This prospective, multicenter, observational study enrolled 402 patients (age: 63 ± 13 year; 59% male; SAPS II: 59 ± 20; SOFA: 9.

Adolescents and young adults with social withdrawal in France: Sociodemographic characteristics and validation of the French version of the Hikikomori Questionnaire-25 (HQ-25).

Background: Clinical situations marked by severe social withdrawal in youths are increasingly recognized as an important public health issue in European countries, while the relation with the hikikomori syndrome initially described in Japan remains poorly investigated.

Aims: This study aims to describe the sociodemographic features of adolescents and young adults with social withdrawal in French and to validate a French version of the Hikikomori Questiuonnaire-25 (HQ-25).

Method: An online questionnaire was completed by 450 participants aged 13 to 25 years.

Investigating the cognitive architecture of verbal fluency: evidence from an interference design on 487 controls.

Introduction: Numerous studies have explored the linguistic and executive processes underlying verbal fluency using association designs, which provide limited evidence. To assess the validity of our model, we aimed to refine the cognitive architecture of verbal fluency using an interference design.

Methods: A total of 487 healthy participants performed letter and semantic fluency tests under the single condition and dual conditions while concurrently performing a secondary task that interferes with speed, semantics, phonology, or flexibility.

Cognitive impacts of unilateral MR-guided focused ultrasound thalamotomy: a meta-analysis and a call for systematic neuropsychological assessment.

Objective: Pharmacoresistant tremors, often seen in Parkinson disease and essential tremor, significantly impair patient quality of life. Although deep brain stimulation has been effective, its invasive nature limits its applicability. MR-guided focused ultrasound (MRgFUS) thalamotomy offers a noninvasive alternative, but its cognitive impacts are not fully understood.

Biopsy-Proven T-Cell Mediated Rejection After Belatacept Rescue Conversion: A Multicenter Retrospective Study.

After kidney transplantation, conversion to belatacept is a promising alternative in patients with poor graft function or intolerance to calcineurin inhibitors. The risk of acute rejection has not been well described under these conditions. Here we present a retrospective multicenter study investigating the occurrence of acute rejection after conversion in 901 patients (2011-2021).

Prognostic Value and Safety of Serial Exercise Echocardiography in Asymptomatic Severe Aortic Stenosis.

Background: The prognostic value of serial exercise echocardiography (EEC) in asymptomatic severe aortic stenosis is unknown. We sought to evaluate the safety and utility of monitoring patients with asymptomatic severe aortic stenosis by annual EECs to refer them to aortic valve replacement (AVR) or to keep them under follow-up.

Methods And Results: The cohort comprised 196 patients, with a normal screening EEC and a minimal follow-up of 18 months.

Anti Phospholipase A2 Receptor 1 Antibodies and Membranous Nephropathy Recurrence After Kidney Transplantation.

Introduction: Membranous nephropathy can lead to end-stage kidney disease, for which kidney transplantation is the preferred therapy. However, the disease often relapses, which can impact allograft survival.

Methods: We conducted a prospective multicenter study in France involving 72 patients with membranous nephropathy who were awaiting and then underwent kidney transplantation.

Prognostic Implications of Right Ventricular Dysfunction in Severe Degenerative Mitral Regurgitation.

Background: The prevalence and impact of right ventricular dysfunction (RVD) in degenerative mitral regurgitation (DMR) is unknown. We aimed to determine whether RVD assessed by echocardiography in routine clinical practice is independently associated with mortality in patients with DMR.

Methods And Results: We used data from the MIDA-Q (Mitral Regurgitation International DAtabase-Quantitative) registry, which included patients with isolated DMR due to mitral valve prolapse from January 2003 to January 2020 from 5 tertiary centers across North America, Europe, and the Middle East.

Do Amyloid Cerebral Deposits Influence the Long-Term Poststroke Cognitive Outcome?: The IDEA3 Study.

Background: Although the presence of amyloid deposits is associated with a more severe cognitive status in patients with stroke at baseline, its influence on the subsequent cognitive outcome has not been extensively assessed. The primary objective of the present study of the IDEA3 (Imagerie des dépôts amyloïdes cérébraux par florbetapir AV-45 et diagnostic des déficits cognitifs et démence post Accident Vasculaire Cérébral) cohort was to determine the influence of amyloid positron emission tomography (PET) status on the 5-year cognitive outcome.

Methods: This longitudinal study performed in Amiens University Hospital (inclusions: October 2014 to October 2019; last visits: October 2018 to February 2023) has included 91 patients with stroke (ischemic stroke, 89%; hemorrhagic stroke, 11%) with florbetapir PET data at baseline (positive, n=14).

Characterisation of the Novel HLA-B*51:409N Allele by Next-Generation Sequencing.

HLA-B*51:409N differs from the HLA-B*51:01:01:01 by one nucleotide at position 923 in exon 3.

Epidemiology of valvular heart disease in France.

Background: Demographic changes and improvements in the diagnosis and treatment of valvular heart diseases (VHDs) have led to changes in its epidemiological profile.

Aims: To describe the epidemiology of VHD in France in 2022.

Methods: Adults hospitalized due to VHD in 2022 were identified from the French National Health Data System and categorized by type of VHD on the basis of hospital diagnoses and interventions.

Risk of metachronous peritoneal metastases after surgery for obstructive colon cancer: Multivariate analysis from a series of 1,085 patients.

Background: Data in the literature suggest that obstruction is an independent predictor of poor prognosis in colon cancer. Of all possible sites of recurrence, peritoneal metastases are associated with worse survival. Our aim was to report the incidence of metachronous peritoneal metastases from a cohort of patients undergoing resection of obstructive colon cancer with curative intent and to identify predictive factors for metachronous peritoneal metastases.

Oxaliplatin-Based Versus Alkylating Agent in Neuroendocrine Tumors According to the O-Methylguanine-DNA Methyltransferase Status: A Randomized Phase II Study (MGMT-NET).

Purpose: Alkylating agents (ALKY) are the main chemotherapies used for advanced neuroendocrine tumors (NETs). O-Methylguanine-DNA methyltransferase (MGMT) status, as proficient (p) or deficient (d), may predict the response to ALKY.

Patients And Methods: MGMT-NET (ClinicalTrials.

Can the integration of new rules into a clinical decision support system reduce the incidence of acute kidney injury and hyperkalemia among hospitalized older adults: a protocol for a stepped-wedge, cluster-randomized trial (DETECT-IP).

Background: Clinical decision support systems (CDSSs) enable the automated, real-time detection of situations associated with a risk of adverse drug events (ADEs). However, the effectiveness of CDSS in reducing ADEs has yet to be demonstrated. We have chosen to focus on the detection of ADE such as hyperkalemia and/or acute kidney injury (AKI), which are common among hospitalized older adults.

Severe hypophosphatemia induced by excessive production of FGF23 in acute hepatitis: from bedside to bench.

Background: Although hepatic production of FGF23 has been suggested in chronic settings, there are no data indicating hypophosphatemia resulting from acute hepatic FGF23 production. Based on two clinical observations of profound hypophosphatemia in the setting of acute hepatitis, our study investigates the hypothesis of acute FGF23 liver expression.

Methods: Retrospective analyses were conducted to estimate FGF23 liver expression both qualitatively ( hybridization) and quantitatively (relative FGF23 gene expression and protein production) on histological specimens of human and murine acute hepatitis livers, compared with controls of hepatic fibrosis or healthy liver.

Classic Hodgkin Lymphoma: The LYSA pragmatic guidelines.

Classic Hodgkin lymphoma (HL) is a distinct entity among hematological malignancies of B-cell origin. It is characterized by its unique histopathological features and generally favorable prognosis. Over the years, advancements in understanding its pathogenesis, coupled with refined diagnostic and evaluation modalities, as well as therapeutic strategies, have significantly transformed the landscape of HL management.

Comparison of surgical management and outcomes of acute right colic and sigmoid diverticulitis: a French national retrospective cohort study.

Background: Acute right colic diverticulitis (ARD) is less frequent in Western countries than acute sigmoid diverticulitis (ASD). We aimed to compare the management of ARD and ASD operated on in emergency.

Methods: All consecutive patients who had emergency surgery for ASD and ARD (2010-2021) were included in a retrospective, multicenter, cohort study.