Chapter 7: CLINICAL FORMS AT DIFFERENT AGES OF LIFE: CHILDHOOD, PREGNANCY, LACTATION, OLD AGE.

Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia.

Association of a remote monitoring programme with all-cause mortality and hospitalizations in patients with heart failure: National-scale, real-world evidence from a 3-year propensity score analysis of the TELESAT-HF study.

Aims: To examine the association of a remote monitoring programme (RMP) with all-cause mortality and hospital admissions for heart failure (HF) within the French healthcare system.

Methods And Results: A national-scale, real-world, propensity-weighted cohort study was conducted using the SNDS French database from August 2018 to December 2022 (NCT06312501). Patients receiving standard of care (SoC) were compared with those receiving RMP (Satelia® Cardio, NP Medical).

Home self-management of type 2 diabetes with diabetes technologies in northern France: a focused ethnographic study protocol.

Introduction: Type 2 diabetes is a chronic condition associated with impaired glucose tolerance and a high prevalence of comorbidity, polypharmacy and medication safety incidents. Little is known about the patient work associated with using diabetes management technologies by patients and their informal caregivers at home. This study aims to apply a systems engineering approach to better understand this work.

MBNL deficiency in motor neurons disrupts neuromuscular junction maintenance and gait coordination.

Muscleblind-like proteins (MBNLs) are a family of RNA-binding proteins that play essential roles in the regulation of RNA metabolism. Beyond their canonical role in RNA regulation, MBNL proteins have emerged as key players in the pathogenesis of Myotonic Dystrophy type 1 (DM1). In DM1, sequestration of MBNL proteins by expansion of the CUG repeat RNA leads to functional depletion of MBNL, resulting in deregulated alternative splicing and aberrant RNA processing, which underlie the clinical features of the disease.

Different outcomes of endurance and resistance exercise in skeletal muscles of Oculopharyngeal muscular dystrophy.

Background: Exercise is widely considered to have beneficial impact on skeletal muscle aging. In addition, there are also several studies demonstrating a positive effect of exercise on muscular dystrophies. Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant inherited neuromuscular disorder caused by mutations in the PAPBN1 gene.

A systematic review of the value of clinical decision support systems in the prescription of antidiabetic drugs.

Introduction: The management of chronic diabetes mellitus and its complications demands customized glycaemia control strategies. Polypharmacy is prevalent among people with diabetes and comorbidities, which increases the risk of adverse drug reactions. Clinical decision support systems (CDSSs) may constitute an innovative solution to these problems.

Hospital Burden of All-Cause Pneumonia and Nonbacteremic Pneumococcal Pneumonia in Adults in France Between 2013 and 2019.

Background: Community-acquired pneumonia (CAP) is associated with significant morbidity and mortality. The study objective was to describe the hospital burden of pneumonia in the adult population in France.

Methods: This retrospective study was conducted from the National Health Insurance Database.

GDF5 as a rejuvenating treatment for age-related neuromuscular failure.

Sarcopenia involves a progressive loss of skeletal muscle force, quality and mass during ageing, which results in increased inability and death; however, no cure has been established thus far. Growth differentiation factor 5 (GDF5) has been described to modulate muscle mass maintenance in various contexts. For our proof of concept, we overexpressed GDF5 by AAV vector injection in tibialis anterior muscle of adult aged (20 months) mice and performed molecular and functional analysis of skeletal muscle.

Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy.

Mechanical overloading (OVL) resulting from the ablation of muscle agonists, a supra-physiological model of resistance training, reduces skeletal muscle fragility, i.e. the immediate maximal force drop following lengthening contractions, and increases maximal force production, in mdx mice, a murine model of Duchene muscular dystrophy (DMD).

Detection of Brain Metastases by Contrast-Enhanced MRI: Comparison of Gadopiclenol and Gadobenate in a Mouse Model.

Objectives: The aim of this study was to evaluate the capacity of gadopiclenol, a high-relaxivity gadolinium-based contrast agent to detect brain metastases in mice as a function of dose (0.08 mmol/kg or 0.1 mmol/kg) compared with gadobenate at 0.

Implementation of a clinical decision support system for the optimization of antidiabetic drug orders by pharmacists.

Aims: The objective of the study was to describe the impact of a clinical decision support system (CDSS) on antidiabetic drug management by clinical pharmacists for hospitalized patients with T2DM.

Methods: We performed a retrospective, single-centre study in a teaching hospital, where clinical pharmacists analysed prescriptions and issued pharmacist interventions (PIs) through a computerized physician order entry (CPOE) system. A CDSS was integrated into the pharmacists' workflow in July 2019.

Valproic acid reduces muscle susceptibility to contraction-induced functional loss but increases weakness in two murine models of Duchenne muscular dystrophy.

Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more susceptible to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) reportedly improves serological and histological markers of damage in dystrophin-deficient murine muscle. Here, we tested whether VPA would reduce the susceptibility to contraction-induced functional loss in two murine DMD models.

Cognitive Outcome After Islet Transplantation.

Unlabelled: Severe or repeated hypoglycemia events may favor memory complaints in type 1 diabetes (T1D). Pancreatic islet transplantation (IT) is an alternative option to exogenous insulin therapy in case of labile T1D, implying a maintenance immunosuppression regimen based on sirolimus or mycophenolate, associated with tacrolimus, that may also have neurological toxicity. The objective of this study was to compare a cognitive rating scale Mini-Mental State Examination (MMSE) between T1D patients with or without IT and to identify parameters influencing MMSE.

Inter-Professional Communications During Follow-Up of Type 2 Diabetes Patients: An Exploratory Study.

Follow-up of patients with type 2 diabetes mellitus (T2DM) involves several healthcare professionals. The quality of their communication is crucial for optimizing care. This exploratory work aims to characterize those communications and their problems.

Description of a French Population of Diabetics Treated Followed up by General Practitioners.

In France, the prevalence of treated diabetes has been estimated at 4.6%, or more than 3 million people and 5.2% in Northern France.

Phenotype and imaging features associated with APP duplications.

Background: APP duplication is a rare genetic cause of Alzheimer disease and cerebral amyloid angiopathy (CAA). We aimed to evaluate the phenotypes of APP duplications carriers.

Methods: Clinical, radiological, and neuropathological features of 43 APP duplication carriers from 24 French families were retrospectively analyzed, and MRI features and cerebrospinal fluid (CSF) biomarkers were compared to 40 APP-negative CAA controls.

Pre-gestational diabetes and the risk of congenital heart defects in the offspring: A French nationwide study.

Aim: To compare the frequencies and types of congenital heart defects for infants of women without and with pre-gestational diabetes, type 1 and type 2 diabetes (T1DM, T2DM) and to identify risk factors.

Methods: All live births between 2012 and 2020 were screened for maternal diabetes and infant congenital heart defects using the French Medical Information System Program in Medicine, Surgery and Obstetrics database (PMSI-MCO). Incidences of these defects were estimated, and a logistic model evaluated maternal and fetal prognostic risk factors.

Polycystic ovary syndrome and adipose tissue.

Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder in women of reproductive age. Typically, it is associated with ovulatory dysfunction: dysovulation or anovulation, and symptoms of hyperandrogenism. It incurs risk of metabolic disorders such as diabetes, dyslipidemia and fatty liver.

Intermittently scanned continuous glucose monitoring is associated with lower spontaneous abortion rate compared with conventional blood glucose monitoring in pregnant women with type 1 diabetes: An observational study.

Aim: The objective of the present real-life study in France was to assess and compare characteristics and outcomes in a cohort of pregnant women with type 1 diabetes (T1D) using intermittently scanned continuous glucose monitoring (isCGM) or conventional blood glucose monitoring (BGM).

Material And Methods: We performed an observational study of a cohort of 153 women with T1D: 77 women were using isCGM, and 76 were using BGM. We compared the groups' maternal characteristics and maternal-fetal complications.