Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis

AbstractTransthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the disease should be suspected, describes the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and reviews the interventions currently available for affected patients

Coherent matter wave inertial sensors for precision measurements in space

We analyze the advantages of using ultra-cold coherent sources of atoms for matter-wave interferometry in space. We present a proof-of-principle experiment that is based on an analysis of the results previously published in [Richard et al., Phys. Rev. Lett., 91, 010405 (2003)] from which we extract the ratio h/m for 87Rb. This measurement shows that a limitation in accuracy arises due to atomic interactions within the Bose-Einstein condensate

Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference

The heterogeneity of neurodegenerative diseases is a key confound to disease understanding and treatment development, as study cohorts typically include multiple phenotypes on distinct disease trajectories. Here we introduce a machine-learning technique\u2014Subtype and Stage Inference (SuStaIn)\u2014able to uncover data-driven disease phenotypes with distinct temporal progression patterns, from widely available cross-sectional patient studies. Results from imaging studies in two neurodegenerative diseases reveal subgroups and their distinct trajectories of regional neurodegeneration. In genetic frontotemporal dementia, SuStaIn identifies genotypes from imaging alone, validating its ability to identify subtypes; further the technique reveals within-genotype heterogeneity. In Alzheimer\u2019s disease, SuStaIn uncovers three subtypes, uniquely characterising their temporal complexity. SuStaIn provides fine-grained patient stratification, which substantially enhances the ability to predict conversion between diagnostic categories over standard models that ignore subtype (p = 7.18 7 10 124 ) or temporal stage (p = 3.96 7 10 125 ). SuStaIn offers new promise for enabling disease subtype discovery and precision medicine

Psychosis in epilepsy patients and other chronic medically ill patients and the role of cerebral pathology in the onset of psychosis: A clinical epidemiological study

SummaryBackgroundIn a 3-year epidemiological survey (N=2623) prevalence of psychosis in epilepsy patients as compared with other chronic medically ill patients is assessed.AimTo explore the role of cerebral pathology as compared to the role of chronic burden of disease in the onset of psychosis.MethodOne thousand seven hundred fifty two patients with chronic medical disorders admitted to an Academic Hospital and 901 patients with epilepsy admitted to a tertiary care epilepsy clinic were assessed by CIDI, MINI and clinical psychiatric interview in a two stage screening survey. Medical files were searched for MRI scans about cerebral pathology. Poisson regression analysis was performed to estimate the relative risk for psychosis in both groups.ResultsIn total, 52 patients with prevalent psychosis were found: 49 (5.4%) in the epilepsy clinic and 3 (0.17%) in the Academic Hospital. Age range (18–88), mean age (42) and gender distribution (equal) were similar in both samples. RR is 8.37 (2.74, 25.52). In 16 of the 49 epilepsy patients, cerebral pathology existed with mainly temporal and frontal localisation and of childhood-onset vascular or infectious origin.ConclusionsThis finding suggests that in the onset of psychosis in epilepsy patients, the role of cerebral pathology, especially localized left temporal and frontal, is of strong etiological importance. The following epilepsy endophenotypes should be explored as factors in vulnerability for psychosis as well: frequent and severe epileptic activity; and psychotic reactions to certain AEDs, such as Topiramate and Lamotrigine. Burden of disease does not seem to play an important role