Seven novel deleterious LEPR mutations found in early-onset obesity: a DeltaExon6-8 shared by subjects from Reunion Island, France, suggests a founder effect

International audienceCONTEXT: Infrequent mutations have been reported in the leptin receptor (LEPR) gene in humans with morbid obesity and endocrine disorders. However LEPR mutations are rarely examined in large populations from different ethnicities in a given country. OBJECTIVE: We estimated the prevalence of LEPR mutations in French patients with severe obesity and evaluated mutated patients' phenotype. DESIGN AND PATIENTS: We sequenced the LEPR gene in 535 morbidly obese French participants. We conducted clinical investigations to determine whether individuals with a novel shared mutation display particular characteristics relative to obesity history, body composition, hormonal functions, and the outcome of bariatric surgery. RESULTS: We identified 12 patients with a novel LEPR mutation (p.C604G, p.L786P, p.H800_N831del, p.Y422H, p.T711NfsX18, p.535-1G\textgreaterA, p.P166CfsX7). Six unrelated subjects were carriers of the p.P166CfsX7 mutation leading to deletion overlapping exons 6 to 8. All subjects originated from Reunion Island (France). Their clinical features (severe early-onset obesity, food impulsivity, and hypogonadotropic hypogonadism) did not differ from other new LEPR mutation carriers. Results concerning weight loss surgery were inconsistent in homozygous LEPR mutation carriers. Heterozygous LEPR mutation carriers exhibited variable severity of obesity and no endocrine abnormality. CONCLUSION: Among seven newly discovered LEPR mutations in this French obese population, we identified a LEPR frameshift mutation shared by six subjects from Reunion Island. This observation suggests a founder effect in this Indian Ocean island with high prevalence of obesity and supports a recommendation for systematic screening for this mutation in morbidly obese subjects in this population

AGATA: Advancements in Software Developments

International audiencePresently, gamma-ray tracking in germanium segmented detectors is realised by applying two advanced, complex algorithms. While they have already triggered an intensive R&D, they are still subject to further improvements. Making such algorithms effective, online in real time conditions and/or offline for deeper analysis, in data pipelines do require many additional software developments. This review paper gives an overview of the various bricks of software produced so far by the AGATA collaboration. It provides hints of what is foreseen for the next phases of the project up to its full configuration namely with 180 capsules in the array

AGATA: Advancements in Software Developments

International audiencePresently, gamma-ray tracking in germanium segmented detectors is realised by applying two advanced, complex algorithms. While they have already triggered an intensive R&D, they are still subject to further improvements. Making such algorithms effective, online in real time conditions and/or offline for deeper analysis, in data pipelines do require many additional software developments. This review paper gives an overview of the various bricks of software produced so far by the AGATA collaboration. It provides hints of what is foreseen for the next phases of the project up to its full configuration namely with 180 capsules in the array

AGATA DAQ-box: a unified data acquisition system for different experimental conditions

International audienceThe AGATA tracking detector array represents a significant improvement over previous Compton suppressed arrays. The construction of AGATA led to numerous technological breakthroughs in order to meet the requirements and the challenges of building a mobile detector across Europe. This paper focuses on the design and implementation of the data acquisition system responsible of the readout and control of the germanium detectors of AGATA. Our system is highly versatile, capable of instrumenting AGATA and seamlessly adapting it to various configurations with a wide range of ancillary detectors and/or spectrometers. It consists of three main components: an autonomous and independent infrastructure, a dedicated application core ensuring overall consistency, and a high--performance software package providing a fully integrated data flow management including the setting-up, the supervision and the slow control of the instrument. In this paper, we present a comprehensive analysis of the system's design and performance, particularly under high-counting rate conditions