A Basis for Slicing Birkhoff Polytopes

We present a change of basis that may allow more efficient calculation of the volumes of Birkhoff polytopes using a slicing method. We construct the basis from a special set of square matrices. We explain how to construct this basis easily for any Birkhoff polytope, and give examples of its use. We also discuss possible directions for future work

Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors

Context Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). Objective To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. Design 12-year prospective, observational study. Participants & Setting We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. Interventions & Outcome AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). Results Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). Conclusions Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course

A Basis for Slicing Birkhoff Polytopes

We present a change of basis that may allow more efficient calculation of the volumes of Birkhoff polytopes using a slicing method. We construct the basis from a special set of square matrices. We explain how to construct this basis easily for any Birkhoff polytope, and give examples of its use. We also discuss possible directions for future work

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms

Background: Fatty acid amide hydrolase 2 (FAAH2) is a hydrolase that mediates the degradation of endocannabinoids in man. Alterations in the endocannabinoid system are associated with a wide variety of neurologic and psychiatric conditions, but the phenotype and biochemical characterization of patients with genetic defects of FAAH2 activity have not previously been described. We report a male with autistic features with an onset before the age of 2 years who subsequently developed additional features including anxiety, pseudoseizures, ataxia, supranuclear gaze palsy, and isolated learning disabilities but was otherwise cognitively intact as an adult. Methods and results: Whole exome sequencing identified a rare missense mutation in FAAH2, hg19: g.57475100G > T (c.1372G > T) resulting in an amino acid change (p.Ala458Ser), which was Sanger confirmed as maternally inherited and absent in his healthy brother. Alterations in lipid metabolism with abnormalities of the whole blood acyl carnitine profile were found. Biochemical and molecular modeling studies confirmed that the p.Ala458Ser mutation results in partial inactivation of FAAH2. Studies in patient derived fibroblasts confirmed a defect in FAAH2 activity resulting in altered levels of endocannabinoid metabolites. Conclusions: We propose that genetic alterations in FAAH2 activity contribute to neurologic and psychiatric disorders in humans.Medical Genetics, Department ofMedicine, Department ofMedicine, Faculty ofMolecular Medicine and Therapeutics, Centre forPathology and Laboratory Medicine, Department ofPediatrics, Department ofPsychiatry, Department ofReviewedFacult

Gravity sensing: cold atom trap onboard a 6U CubeSat

“Cold atoms” can be used as ultra-sensitive sensors for measuring accelerations and are capable of mapping changes in the strength of gravity across the surface of the Earth. They could offer significant benefits to existing space based gravity sensing capabilities. Gravity sensors in space are already used for many Earth observation applications including monitoring polar ice mass, ocean currents and sea level. Cold atom sensors could enable higher resolution measurements which would allow monitoring of smaller water sources and discovery of new underground natural resources which are currently undetectable. The adoption of cold atom technology is constrained by low technology readiness level (TRL). Teledyne e2v and its partners are addressing this maturity gap through project Cold Atom Space PAyload (CASPA) which is an Innovate UK and Engineering and Physical Sciences Research Council (EPSRC) funded project, involving the University of Birmingham as science lead, XCAM, Clyde Space, Covesion, Gooch & Housego, and the University of Southampton. Through the CASPA project the consortium have built and vibration tested a 6U (approximate dimensions: 100 × 200 × 300 mm) cube Satellite (CubeSat) that is capable of laser cooling atoms down to 100’s of micro kelvin, as a pre-cursor to gravity sensors for future Earth observation missions