Behavioral Analytics for Myopic Agents.

Many multi-agent systems have a single coordinator providing incentives to a large number of agents. Two challenges faced by the coordinator are a finite budget from which to allocate incentives, and an initial lack of knowledge about the utility function of the agents. Here, we present a behavioral analytics approach for solving the coordinator's problem when the agents make decisions by maximizing utility functions that depend on prior system states, inputs, and other parameters that are initially unknown.

Balance control impairments in Fabry disease.

Background: Fabry disease (FD) is a rare inherited lysosomal storage disorder caused by the deficiency of the enzyme alpha-galactosidase A. This deficiency leads to an accumulation of glycosphingolipids leading to progressive and multisystemic disease, including renal, cardiac, and neurological damages. FD may also have neuro-otological and visual impairments, which can generate postural control alterations, inner ear, and vision being involved in this function.

[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].

Introduction: Gaucher disease (GD) is a rare genetic lysosomal storage disorder caused by a beta-glucocerebrosidase deficiency and responsible for a lysosomal storage disorder. GD is characterized by haematological, visceral and bone involvements. The aim of this study was to describe the diagnostic journey of type 1 GD patients as well as the role of the internist.

Behavioral Modeling in Weight Loss Interventions.

Designing systems with human agents is difficult because it often requires models that characterize agents' responses to changes in the system's states and inputs. An example of this scenario occurs when designing treatments for obesity. While weight loss interventions through increasing physical activity and modifying diet have found success in reducing individuals' weight, such programs are difficult to maintain over long periods of time due to lack of patient adherence.

Personalizing Mobile Fitness Apps using Reinforcement Learning.

Despite the vast number of mobile fitness applications (apps) and their potential advantages in promoting physical activity, many existing apps lack behavior-change features and are not able to maintain behavior change motivation. This paper describes a novel fitness app called CalFit, which implements important behavior-change features like dynamic goal setting and self-monitoring. CalFit uses a reinforcement learning algorithm to generate personalized daily step goals that are challenging but attainable.

Evaluating Machine Learning-Based Automated Personalized Daily Step Goals Delivered Through a Mobile Phone App: Randomized Controlled Trial.

Background: Growing evidence shows that fixed, nonpersonalized daily step goals can discourage individuals, resulting in unchanged or even reduced physical activity.

Objective: The aim of this randomized controlled trial (RCT) was to evaluate the efficacy of an automated mobile phone-based personalized and adaptive goal-setting intervention using machine learning as compared with an active control with steady daily step goals of 10,000.

Methods: In this 10-week RCT, 64 participants were recruited via email announcements and were required to attend an initial in-person session.

Intra-venous bevacizumab in hereditary hemorrhagic telangiectasia (HHT): A retrospective study of 46 patients.

Background: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France.

Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: Haemodynamic profiles and survival probability.

Background: Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT).

Methods And Results: We conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines.

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.

Background: The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.

Methods: We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed) when starting ERT.

[Extensive digital necrosis during dermatomyositis associated with MDA-5 antibodies].

Background: Dermatomyositis (DM) is an inflammatory disease associated with auto-antibodies in 50 to 70% of cases. A new antibody, anti MDA-5, has been described in association with a specific type of DM involving severe interstitial lung disease and minimal muscle disease. We report the first case of DM with MDA-5 antibodies and with interstitial lung disease and rapidly extensive digital necrosis.

Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease.

Introduction: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare, treatable, beta-oxidation disorder responsible for neuromuscular symptoms in adults. This case series describes the clinical and biochemical features of 13 French patients with late-onset MADD.

Methods And Results: Thirteen ambulant patients (eight women, five men), with a median age at onset of 27 years, initially experienced exercise intolerance (n=9), isolated muscle weakness (n=1) and a multisystemic pattern with either central nervous system or hepatic dysfunction (n=3).

Exertional Heat Stroke and Susceptibility to Malignant Hyperthermia in an Athlete: Evidence for a Link?

Objective: To describe the possible association (pathophysiologic and clinical features) between exertional heat stroke (EHS) and malignant hyperthermia (MH).

Background: Both EHS and MH are acute and life-threatening disorders. It has repeatedly been shown that EHS can occur in well-trained patients with known MH-associated mutation in the RYR1 gene in the absence of any extreme environmental conditions or extreme physical activity, thereby supporting a possible link between EHS and MH.

Validity of the global anti-phospholipid syndrome score to predict thrombosis: a prospective multicentre cohort study.

Objective: To investigate the validity of the global APS score (GAPSS) to predict thrombosis in patients with autoimmune diseases.

Methods: This prospective cohort study included consecutive patients with aPL or SLE. aPL, aPS-PT and GAPSS were determined.

Impairment of quality of life in patients with antiphospholipid syndrome.

Objectives: Health-related quality of life (HRQoL) has not been fully explored in antiphospholipid syndrome (APS); therefore, we compared HRQoL between APS patients and the general population and assessed the impact of thromboembolic history.

Methods: HRQoL was measured in a multicentre cohort study by the Medical Outcomes Study Short-Form 36 (MOS-SF-36) questionnaire. HRQoL scores were compared to the French general population norms.

Lack of correlation between the ventilatory response to CO2 and lung function impairment in myotonic dystrophy patients: evidence for a dysregulation at central level.

Myotonic dystrophy Type 1 (DM1) is the most common muscular dystrophy in adults. Respiratory failure is common but clinical findings support a dysregulation of the control of breathing at central level, furthermore contributing to alveolar hypoventilation independently of the severity of respiratory weakness. We therefore intended to study the relationship between the ventilatory response to CO2 and the impairment of lung function in DM1 patients.

Responsiveness of the 36-item Short Form Health Survey and the Lupus Quality of Life questionnaire in SLE.

Objectives: This study aimed to estimate the responsiveness to change of a generic [the 36-item Short Form Health Survey (SF-36)] and a specific health-related quality of life questionnaire [the Lupus Quality if Life questionnaire (LupusQoL)] according to SLE patients' self-reported changes in health status.

Methods: In a cohort of 185 SLE patients, quality of life (QoL) was measured three times at 3 month intervals by the LupusQoL and SF-36 questionnaires. Anchors for responsiveness were defined by patients' global assessment of disease impact according to changes in a visual analogue scale (VAS), a 7-point Likert scale and a 0-3 scale of five patient-reported symptoms.

Central nervous system involvement of granulomatosis with polyangiitis: clinical-radiological presentation distinguishes different outcomes.

Objective: The aim of this study was to describe the presentation and outcomes of patients with granulomatosis with polyangiitis (GPA) presenting with CNS involvement.

Methods: Patients were included in this nationwide retrospective study if they had GPA according to ACR criteria and/or the European Medicines Agency algorithm and CNS involvement.

Results: Thirty-five patients were included in the study.

Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross-over controlled trial in a rare disease.

Background: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder associated with abnormal angiogenesis and disabling epistaxis. Tranexamic acid (TA) has been widely used in the treatment of these severe bleeds but with no properly designed trial.

Objectives: To demonstrate the efficacy of TA in epistaxis in HHT patients and to explore its safety of use.

[Arrhythmia and muscular exercise intolerance revealing lamin genetic defect in a young adult].

Introduction: Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent.

Case Report: We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function.

[Current therapeutic strategies in lysosomal disorders].

The lysosomal storage disorders (LSD) comprise a heterogeneous group of inborn errors of metabolism. The resulting enzymatic defect leads to accumulation of its substrate in the lysosome. Their clinical patterns reflect the site of substrate storage.

Gastrointestinal pathology in juvenile and adult CFTR-knockout ferrets.

Cystic fibrosis (CF) is a multiorgan disease caused by loss of a functional cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel in many epithelia of the body. Here we report the pathology observed in the gastrointestinal organs of juvenile to adult CFTR-knockout ferrets. CF gastrointestinal manifestations included gastric ulceration, intestinal bacterial overgrowth with villous atrophy, and rectal prolapse.

Supine changes in lung function correlate with chronic respiratory failure in myotonic dystrophy patients.

Quality of life and prognosis of patients with myotonic dystrophy type 1 (MD1) often depend on the degree of lung function impairment. This study was designed to assess the respective prevalence of ventilatory restriction, hypoxaemia and hypercapnia in MD1 patients and to determine whether postural changes in lung function could contribute to the early diagnosis of poor respiratory outcome. Fifty-eight patients (42.