Search results for "History"

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

2018

Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by a galactosidase A (a-gal A) deficiency. Central nervous system involvement and chronic white matter lesions are observed in both FD and multiple sclerosis (MS), which can confound the differential diagnosis. We analyzed the GLA gene, which encodes a-gal A, in 86 patients with clinical and neuroradiological findings consistent with MS to determine whether they had FD. We identified four women initially diagnosed with MS who had GLA mutations associated with FD. Our results indicate that family history besides neurological findings should be evaluated in patients with an uncertain diagnosis of MS. Also the involv…

Archaeology and ichnology at Gombore II-2, Melka Kunture, Ethiopia: everyday life of a mixed age hominin group 700,000 years ago

2018

AbstractWe report the occurrence at 0.7 million years (Ma) of an ichnological assemblage at Gombore II-2, which is one of several archaeological sites at Melka Kunture in the upper Awash Valley of Ethiopia, 2000 m asl. Adults and children potentially as young as 12 months old left tracks in a silty substrate on the shore of a body of water where ungulates, as well as other mammals and birds, congregated. Furthermore, the same layers contain a rich archaeological and palaeontological record, confirming that knapping was taking place in situ and that stone tools were used for butchering hippo carcasses at the site. The site gives direct information on hominin landscape use at 0.7 Ma and may p…

Molecular landscape of esophageal cancer: implications for early detection and personalized therapy

2018

Esophageal cancer (EC) is one of the most lethal cancers and a public health concern worldwide, owing to late diagnosis and lack of efficient treatment. Esophageal squamous cell carcinoma (ESCC) and esophageal adenocarcinoma (EAC) are main histopathological subtypes of EC that show striking differences in geographical distribution, possibly due to differences in exposure to risk factors and lifestyles. ESCC and EAC are distinct diseases in terms of cell of origin, epidemiology, and molecular architecture of tumor cells. Past efforts aimed at translating potential molecular candidates into clinical practice proved to be challenging, underscoring the need for identifying novel candidates for …

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency

2017

International audience; A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera (R)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in …

2020

Background Nonimmune hydrops fetalis (NIHF) is still a challenging diagnosis. The differential diagnosis is extensive and the success of identifying a cause depends on the thoroughness of efforts to establish a diagnosis. For the early diagnosis of NIHF, a virtual gene panel diagnostic tool was developed. The female premature baby in question was delivered via emergency cesarean at 30 + 1 weeks of gestational age (GA) due to rapidly developing NIHF to a healthy mother. The family history was noncontributory. Methods DNA of the family was extracted and sequenced by the virtual hydrops panel with whole-exome sequencing. Results The hydrops panel revealed Noonan syndrome (NS) with a germline m…

Towards a Unified Functional Trait Framework for Parasites

2019

Trait-based research holds high potential to unveil ecological and evolutionary processes. Functional traits are fitness-related characteristics of individuals, which are measured at individual level and defined without using information external to the individual. Despite the usefulness of the functional approach to understand the performance of individuals in ecosystems, and parasitism being the most common life-history strategy on Earth, studies based on functional traits of parasites are still scarce. Since the choice of functional traits is a critical step for any study, we propose a core list of seven functional traits of metazoan parasites, related to three universal challenges faced…

Voyage d’étude autour de la pratique officinale suisse

2017

International audience; Twenty-seven students from the Dijon health sciences training and research unit in the 6th year of their course and specialising in the community setting had the opportunity to undertake a study trip to meet Swiss colleagues. They discovered an innovative vision of pharmacy practice. The results of a feedback questionnaire highlighted the benefit of this pedagogical approach for the construction of the professional identity of these future community pharmacists.; L’intégration d’un voyage d’étude dans le cursus pharmaceutique parcours “officine” a permis à 27 étudiants de 6e année de l’unité de formation et de recherche des sciences de santé de Dijon d’aller à la ren…

A New Experiment for the Measurement of the g-Factors of 3He+ and 3He2+.

2018

We describe a new experiment that aims at a parts per billion measurement of the nuclear magnetic moment of 3He2+ and a 100 parts per trillion measurement of the Zeeman effect of the ground-state hyperfine splitting of 3He+. To enable ultrafast and efficient experiment cycles the experiment relies on new technologies such as sympathetic laser cooling of single 3He-ions coupled to a cloud of Doppler-cooled 9Be-ions in a Penning trap or a novel spin-state detection scheme.

Molecular detection of Borrelia burgdorferi sensu lato – An analytical comparison of real-time PCR protocols from five different Scandinavian laborat…

2017

Introduction Lyme borreliosis (LB) is the most common tick transmitted disease in Europe. The diagnosis of LB today is based on the patient A s medical history, clinical presentation and laboratory findings. The laboratory diagnostics are mainly based on antibody detection, but in certain conditions molecular detection by polymerase chain reaction (PCR) may serve as a complement. Aim The purpose of this study was to evaluate the analytical sensitivity, analytical specificity and concordance of eight different real-time PCR methods at five laboratories in Sweden, Norway and Denmark. Method Each participating laboratory was asked to analyse three different sets of samples (reference panels; a…

Life history adjustments to intestinal inflammation in a gut nematode.

2017

ABSTRACT Many parasitic nematodes establish chronic infections. This implies a finely tuned interaction with the host immune response in order to avoid infection clearance. Although a number of immune interference mechanisms have been described in nematodes, how parasites adapt to the immune environment provided by their hosts remains largely unexplored. Here, we used the gastrointestinal nematode Heligmosomoides polygyrus to investigate the plasticity of life history traits and immunomodulatory mechanisms in response to intestinal inflammation. We adopted an experimental model of induced colitis and exposed worms to intestinal inflammation at two different developmental stages (larvae and …