An unusual cause of acute abdominal pain – A case presentation

BACKGROUND: In 1983, Graham Hughes described a condition of Antiphospholipid Syndrome in which there was a danger of thrombosis. The condition is readily detectable by blood tests and, once diagnosed; the risk of further thrombosis can be significantly reduced by anticoagulation treatments. Affected groups of patients can be distinguished by a specific blood test – the detection of antiphospholipid antibody (Ref-1). Patients with Hughes syndrome have hypercoaguable state with a markedly increased risk of both arterial and venous thrombosis and there is temporal persistence of antibody positivity. CASE PRESENTATION: A 44-year-old woman was admitted under the acute surgical "take" with left sided abdominal pain radiating to her back. She had a history of borderline thyrotoxicosis in the early 1990s. She was on etonogestrel-releasing implants for contraception and there was no history of previous deep venous thrombosis. She was very tender, locally, over the left side of the abdomen. Investigations showed haemoglobin of 13.2 g/dl, white cell count of 19.9 10*9/L, and platelets 214 10*9/L with neutrophilia. Amylase and renal function tests were found to be normal. Liver function tests were deranged with Gamma GT 244 u/l (twice normal). An abdominal Ultrasound Scan suggested a possible splenic infarction, which was confirmed by a CT scan of her abdomen. Tests were carried out to investigate the possibility of a post thrombotic state. Coagulation risk factors for thrombosis were within the normal limits; Protein S 67 %(60–140), Protein C 103 % (72–146), Antithrombin 3 110 %(80–120) and Activated P C Resistance was 1.9(2.0–4.3). The Hams test was negative but the Anticardiolipin antibody test was positive. IgM level was 52 (normal is up to 10) and IgG was 18.8 (normal is up to 10). She also had border line APC Sensitivity 1.9 (2 to 4.3). Kaolin time 49 sec (70–120) Ktmix 64 sec (70–120), thyroid function test revealed TSH 0.32 mu/L, fT4 20.2 pmol/L (10–25). Subsequent determination of Anticardiolipin antibody was negative. Her symptoms were settled with the use of simple analgesia and she was discharged home with long-term anticoagulation medication. The INR target for long-term anticoagulation was aimed at >3. CONCLUSION: This case presented to us as an acute abdominal pain. Subsequent investigations revealed the presence of splenic infarction. Coagulation risk factors for thrombosis proved negative. Haematological investigations revealed the presence of anticardiolipin antibodies at the first instance but subsequent determinations were negative. Hence, it mimicked Hughes syndrome initially but the criteria for temporal persistence of anticardiolipin antibody was not fulfilled. Unusual surgical presentation of a thrombotic abnormality as abdominal pain due to splenic infarction

16th International Congress on Antiphospholipid Antibodies Task Force Report on Antiphospholipid Syndrome Treatment Trends

Antiphospholipid syndrome (APS), an acquired autoimmune thrombophilia, is characterised by thrombosis and/or pregnancy morbidity in association with persistent antiphospholipid antibodies. The 16th International Congress on Antiphospholipid Antibodies Task Force on APS Treatment Trends reviewed the current status with regard to existing and novel treatment trends for APS, which is the focus of this Task Force report. The report addresses current treatments and developments since the last report, on the use of direct oral anticoagulants in patients with APS, antiplatelet agents, adjunctive therapies (hydroxychloroquine, statins and vitamin D), targeted treatment including rituximab, belimumab, and anti-TNF agents, complement inhibition and drugs based on peptides of beta-2-glycoprotein I. In addition, the report summarises potential new players, including coenzyme Q10, adenosine receptor agonists and adenosine potentiation. In each case, the report provides recommendations for clinicians, based on the current state of the art, and suggests a clinical research agenda. The initiation and development of appropriate clinical studies requires a focus on devising suitable outcome measures, including a disease activity index, an optimal damage index, and a specific quality of life index

A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families

<p>Abstract</p> <p>Background</p> <p>Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a genodermatosis caused by more than 500 different mutations in the <it>COL7A1 </it>gene and characterized by blistering of the skin following a minimal friction or mechanical trauma.</p> <p>The identification of a cluster of RDEB pedigrees carrying the c.6527insC mutation in a specific area raises the question of the origin of this mutation from a common ancestor or as a result of a hotspot mutation. The aim of this study was to investigate the origin of the c.6527insC mutation.</p> <p>Methods</p> <p>Haplotypes were constructed by genotyping nine single nucleotides polymorphisms (SNPs) throughout the <it>COL7A1 </it>gene. Haplotypes were determined in RDEB patients and control samples, both of Spanish origin.</p> <p>Results</p> <p>Sixteen different haplotypes were identified in our study. A single haplotype cosegregated with the c.6527insC mutation.</p> <p>Conclusion</p> <p>Haplotype analysis showed that all alleles carrying the c.6527insC mutation shared the same haplotype cosegregating with this mutation (<b><it>CCGCTCAAA_6527insC</it></b>), thus suggesting the presence of a common ancestor.</p

Extreme-ultraviolet fine structure and variability associated with coronal rain revealed by Solar Orbiter/EUI HRIEUV and SPICE

CONTEXT: Coronal rain is the most dramatic cooling phenomenon of the solar corona. Recent observations in the visible and UV spectrum have shown that coronal rain is a pervasive phenomenon in active regions. Its strong link with coronal heating through the thermal non-equilibrium (TNE) a-thermal instability (TI) scenario makes it an essential diagnostic tool for the heating properties. Another puzzling feature of the solar corona in addition to the heating is its filamentary structure and variability, particularly in the extreme UV (EUV). AIMS: We aim to identify observable features of the TNE-TI scenario underlying coronal rain at small and large spatial scales to understand the role it plays in the solar corona. METHODS: We used EUV datasets at an unprecedented spatial resolution of 240 km from the High Resolution Imager (HRI) in the EUV (HRIEUV) of the Extreme Ultraviolet Imager (EUI) and SPICE on board Solar Orbiter from the perihelion in March and April 2022. RESULTS: EUV absorption features produced by coronal rain are detected at scales as small as 260 km. As the rain falls, heating and compression is produced immediately downstream, leading to a small EUV brightening that accompanies the fall and produces a fireball phenomenon in the solar corona. Just prior to impact, a flash-like EUV brightening downstream of the rain, lasting a few minutes, is observed for the fastest events. For the first time, we detect the atmospheric response to the impact of the rain on the chromosphere, and it consists of upward-propagating rebound shocks and flows that partly reheat the loop. The observed widths of the rain clumps are 500a-±a-200 km. They exhibit a broad velocity distribution of 10a-a-A-150 km sa-1and peak below 50 km sa-1. Coronal strands of similar widths are observed along the same loops. They are co-spatial with cool filamentary structure seen with SPICE, which we interpret as the condensation corona transition region. Prior to the appearance of the rain, sequential loop brightenings are detected in gradually cooler lines from coronal to chromospheric temperatures. This matches the expected cooling. Despite the large rain showers, most cannot be detected in AIA 171 in quadrature, indicating that line-of-sight effects play a major role in the visibility of coronal rain. The AIA 304 and SPICE observations still reveal that only a small fraction of the rain can be captured by HRIEUV. CONCLUSIONS: Coronal rain generates EUV structure and variability over a wide range of scales, from coronal loops to the smallest resolvable scales. This establishes the major role that TNE-TI plays in the observed EUV morphology and variability of the corona

First perihelion of EUI on the Solar Orbiter mission

CONTEXT: The Extreme Ultraviolet Imager (EUI) on board Solar Orbiter consists of three telescopes: the two High Resolution Imagers, in EUV (HRIEUV) and in Lyman-α (HRILya), and the Full Sun Imager (FSI). Solar Orbiter/EUI started its Nominal Mission Phase on 2021 November 27. AIMS: Our aim is to present the EUI images from the largest scales in the extended corona off-limb down to the smallest features at the base of the corona and chromosphere. EUI is therefore a key instrument for the connection science that is at the heart of the Solar Orbiter mission science goals. METHODS: The highest resolution on the Sun is achieved when Solar Orbiter passes through the perihelion part of its orbit. On 2022 March 26, Solar Orbiter reached, for the first time, a distance to the Sun close to 0.3 au. No other coronal EUV imager has been this close to the Sun. RESULTS: We review the EUI data sets obtained during the period 2022 March–April, when Solar Orbiter quickly moved from alignment with the Earth (2022 March 6), to perihelion (2022 March 26), to quadrature with the Earth (2022 March 29). We highlight the first observational results in these unique data sets and we report on the in-flight instrument performance. CONCLUSIONS: EUI has obtained the highest resolution images ever of the solar corona in the quiet Sun and polar coronal holes. Several active regions were imaged at unprecedented cadences and sequence durations. We identify in this paper a broad range of features that require deeper studies. Both FSI and HRIEUV operated at design specifications, but HRILya suffered from performance issues near perihelion. We conclude by emphasizing the EUI open data policy and encouraging further detailed analysis of the events highlighted in this paper