Characteristics of radiated power for various TFTR (Tokamak Fusion Test Reactor) regimes

Power loss studies were carried out to determine the impurity radiation and energy transport characteristics of various TFTR operation and confinement regimes including L-Mode, detached plasma, co-only neutral beam injection (energetic ion regime), and the enhanced confinement (''supershot'') regime. Combined bolometric, spectroscopic, and infrared photometry measurements provide a picture of impurity behavior and power accounting in TFTR. The purpose of this paper is to make a survey of the various regimes with the aim of determining the radiated power signatures of each. 10 refs., 6 figs., 1 tab

The use of venous catheterization in the diagnosis and localization of bilateral phaeochromocytomas.

OBJECTIVE: The purpose was to assess the value of venous catheter sampling as a method for the location of phaeochromocytomas, particularly when imaging techniques have been equivocal or ambiguous. DESIGN: Venous catheter sampling was carried out in cases of suspected phaeochromocytoma, and compared with samples obtained from other patients without phaeochromocytomas undergoing adrenal venous catheterization. PATIENTS: Three patients had phaeochromocytomas (subsequently confirmed by histology); five patients had no clinical or biochemical evidence of phaeochromocytoma but were being investigated for other conditions. MEASUREMENTS: Catecholamine and cortisol assays were performed on plasma samples from the adrenal veins and elsewhere, and the noradrenaline to adrenaline (NA:AD) ratio was calculated. RESULTS In patients without phaeochromocytomas the NA:AD ratio was less than 1 in nine adrenal vein samples; in four adrenal vein samples with NA:AD ratio of greater than 1, the presence of a phaeochromocytoma was subsequently confirmed. An extra-adrenal tumour was also located by comparison of central and peripheral venous catecholamine concentrations. CONCLUSIONS: Venous catheterization with measurements of catecholamines, and determination of NA:AD ratios, allows for the rapid and confident diagnosis and localization of unilateral, bilateral, and extra-adrenal phaeochromocytomas

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Contains fulltext : 174755.pdf (publisher's version ) (Closed access)Pathogenic variants in genes encoding subunits of the spliceosome are the cause of several human diseases, such as neurodegenerative diseases. The RNA splicing process is facilitated by the spliceosome, a large RNA-protein complex consisting of small nuclear ribonucleoproteins (snRNPs), and many other proteins, such as heterogeneous nuclear ribonucleoproteins (hnRNPs). The HNRNPU gene (OMIM *602869) encodes the heterogeneous nuclear ribonucleoprotein U, which plays a crucial role in mammalian development. HNRNPU is expressed in the fetal brain and adult heart, kidney, liver, brain, and cerebellum. Microdeletions in the 1q44 region encompassing HNRNPU have been described in patients with intellectual disability (ID) and other clinical features, such as seizures, corpus callosum abnormalities (CCA), and microcephaly. Recently, pathogenic HNRNPU variants were identified in large ID and epileptic encephalopathy cohorts. In this study, we provide detailed clinical information of five novels and review two of the previously published individuals with (likely) pathogenic de novo variants in the HNRNPU gene including three non-sense and two missense variants, one small intragenic deletion, and one duplication. The phenotype in individuals with variants in HNRNPU is characterized by early onset seizures (6/7), severe ID (6/6), severe speech impairment (6/6), hypotonia (6/7), and central nervous system (CNS) (5/6), cardiac (4/6), and renal abnormalities (3/4). In this study, we broaden the clinical and mutational HNRNPU-associated spectrum, and demonstrate that heterozygous HNRNPU variants cause epilepsy, severe ID with striking speech impairment and variable CNS, cardiac, and renal anomalies