Gamma Ray Large Area Space Telescope (GLAST) Balloon Flight Data Handling Overview

The GLAST Balloon Flight Engineering Model (BFEM) represents one of 16 towers that constitute the Large Area Telescope (LAT), a high-energy (>20 MeV) gamma-ray pair-production telescope being built by an international partnership of astrophysicists and particle physicists for a satellite launch in 2006. The prototype tower consists of a Pb/Si pair-conversion tracker (TKR), a CsI hodoscopic calorimeter (CAL), an anti-coincidence detector (ACD) and an autonomous data acquisition system (DAQ). The self-triggering capabilities and performance of the detector elements have been previously characterized using positron, photon and hadron beams. External target scintillators were placed above the instrument to act as sources of hadronic showers. This paper provides a comprehensive description of the BFEM data-reduction process, from receipt of the flight data from telemetry through event reconstruction and background rejection cuts. The goals of the ground analysis presented here are to verify the functioning of the instrument and to validate the reconstruction software and the background-rejection scheme.Comment: 5 pages, 4 figures, to be published in IEEE Transacations on Nuclear Science, August 200

Adiponectin SNP45TG is associated with gestational diabetes mellitus

INTRODUCTION: Diabetes and pregnancy can be associated in two ways: pregnancy that occurs in women who are already diabetic (diabetes of pre-gestational origin); and diabetes that occur in women who are already pregnant [gestational diabetes mellitus (GDM) (O'sullivan 1961)]. Patients with previous GDM history have higher risk of developing diabetes outside of pregnancy. Accumulating literature had suggested that adiponectin plays a role in the pathophysiology of this metabolic syndrome, and several of the common single nucleotide polymorphisms (SNP) in adiponectin gene have been identified in type 2 diabetes. Thus, one of the commonly found SNP was studied to determine its association with GDM. OBJECTIVE: To identify the association of SNP45TG with GDM. METHODS: This is a cross-sectional study involving pregnant mothers of <18 gestational weeks, who were recruited from three local antenatal clinics in Selangor, Malaysia. Their genomic DNA was extracted from EDTA treated whole blood using commercialized kit. Adiponectin gene was amplified through conventional PCR and SNP was detected using restriction enzyme SmaI. Plasma adiponectin level, fructosamine level and HbA(1c) percentage were also examined. RESULTS: Among the 79 antenatal patients recruited, 53 patients were normal and 26 were diagnosed with GDM. Among the 53 normal patients, 18 carry TG/GG genotype. Meanwhile, among the 26 patients that were diagnosed with GDM 15 carry TG/GG genotype. Significant association was found between SNP45TG with GDM ( χ(2) = 4.038; P < 0.05). In addition, normal patients with TT genotype have significantly higher plasma adiponectin level compared to other groups. CONCLUSION: We concluded that SNP45TG in adiponectin gene is associated with the occurrence of GDM

Hereditary sensory neuropathy type I

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical feature of HSN I is the reduction of sensation sense mainly distributed to the distal parts of the upper and lower limbs. Variable distal muscle weakness and wasting, and chronic skin ulcers are characteristic. Autonomic features (usually sweating disturbances) are invariably observed. Serious and common complications are spontaneous fractures, osteomyelitis and necrosis, as well as neuropathic arthropathy which may even necessitate amputations. Some patients suffer from severe pain attacks. Hypacusis or deafness, or cough and gastrooesophageal reflux have been observed in rare cases. HSN I is a genetically heterogenous condition with three loci and mutations in two genes (SPTLC1 and RAB7) identified so far. Diagnosis is based on the clinical observation and is supported by a family history. Nerve conduction studies confirm a sensory and motor neuropathy predominantly affecting the lower limbs. Radiological studies, including magnetic resonance imaging, are useful when bone infections or necrosis are suspected. Definitive diagnosis is based on the detection of mutations by direct sequencing of the SPTLC1 and RAB7 genes. Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis. Differential diagnosis includes the other hereditary sensory and autonomic neuropathies (HSAN), especially HSAN II, as well as diabetic foot syndrome, alcoholic neuropathy, neuropathies caused by other neurotoxins/drugs, immune mediated neuropathy, amyloidosis, spinal cord diseases, tabes dorsalis, lepra neuropathy, or decaying skin tumours like amelanotic melanoma. Management of HSN I follows the guidelines given for diabetic foot care (removal of pressure to the ulcer and eradication of infection, followed by the use of specific protective footwear) and starts with early and accurate counselling of patients about risk factors for developing foot ulcerations. The disorder is slowly progressive and does not influence life expectancy but is often severely disabling after a long duration of the disease

Paediatric autoimmune encephalopathies:Clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens

Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens. Method: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase. Results Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to in fluence the treatment effect. Conclusions: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future

The STRING database in 2023: protein-protein association networks and functional enrichment analyses for any sequenced genome of interest

Much of the complexity within cells arises from functional and regulatory interactions among proteins. The core of these interactions is increasingly known, but novel interactions continue to be discovered, and the information remains scattered across different database resources, experimental modalities and levels of mechanistic detail. The STRING database (https://string-db.org/) systematically collects and integrates protein-protein interactions-both physical interactions as well as functional associations. The data originate from a number of sources: automated text mining of the scientific literature, computational interaction predictions from co-expression, conserved genomic context, databases of interaction experiments and known complexes/pathways from curated sources. All of these interactions are critically assessed, scored, and subsequently automatically transferred to less well-studied organisms using hierarchical orthology information. The data can be accessed via the website, but also programmatically and via bulk downloads. The most recent developments in STRING (version 12.0) are: (i) it is now possible to create, browse and analyze a full interaction network for any novel genome of interest, by submitting its complement of encoded proteins, (ii) the co-expression channel now uses variational auto-encoders to predict interactions, and it covers two new sources, single-cell RNA-seq and experimental proteomics data and (iii) the confidence in each experimentally derived interaction is now estimated based on the detection method used, and communicated to the user in the web-interface. Furthermore, STRING continues to enhance its facilities for functional enrichment analysis, which are now fully available also for user-submitted genomes

Surveillance Technology in Dementia Care: Implicit Assumptions and Unresolved Tensions

This paper examines the concept of “Surveillance Technology [ST]” as it is used in ageing and dementia research but which suffers from poor definition. We attempt to clarify this imprecision by contextualizing a brief history of the development of ST and provide a summary of the research in this area. We contrast this with the responses provided by a public and patient involvement group of people living with a dementia diagnosis, or experience of supporting people with dementia. ST operates in multiple interacting ways, all of which need to be taken into account in research, public and policy debate. As a technology it is often seen as a way of assisting individuals and therefore classified as an Assistive Technology [AT]. However, the meaning of ST used in dementia care has pragmatic implications beyond the meeting of the needs for “safety and independence”; ideas which is often used to justify its use. We argue that there is need to interrogate the terms “Surveillance” and “Technology” more carefully if ST is to be considered as empowering for people with dementia. This tension is brought out in the accounts present in a group discussion on ST and its use. This paper argues that there needs to be an acknowledgement that the purposes of such technologies need to be regularly reviewed in order for society to keep up with the rapidly changing pace of technology and the changing needs of users