Cardiac arrest in a teenager - a case report

Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenCardiac arrest is rarely seen in children and teenagers. We present a 12-year old girl with cardiac arrest following myocardial infarction, that required prolonged cardiac massage and extracorporeal-membranous-oxygenation (ECMO). At coronary angiography the left main coronary artery (LMCA) was stented for a suspected coronary dissection. The contraction of the heart improved and the ECMO-treatment was discontinued a week later. The patient was discharged home, but six months later a coronary artery bypass surgery was performed for in-stent restenosis. Further work-up with computed tomography (CT) showed that the LMCA originated from the right aortic sinus instead of the the left one. This case demonstrates how life threatening myocardial infarction can be caused by coronary artery anomalies.Hjartastopp er sjaldgæft hjá börnum og unglingum. Lýst er 12 ára stúlku sem fór í hjartastopp eftir brátt hjartadrep þar sem beita varð langvarandi hjartahnoði og hjarta- og lungnavél til að bjarga lífi hennar. Við kransæðaþræðingu vaknaði grunur um flysjun í vinstri kransæðarstofni og var því komið fyrir kransæðastoðneti. Samdráttur hjartans lagaðist og var hjarta- og lungnavélin aftengd viku síðar. Hún útskrifaðist heim en hálfu ári síðar sást endurþrenging í stoðnetinu og var því gerð kransæðahjáveituaðgerð. Á tölvusneiðmyndum sást að um meðfæddan galla var að ræða þar sem vinstri kransæðarstofn átti upptök frá hægri ósæðarbolla í stað þess vinstra. Tilfellið sýnir að kransæðamissmíð getur valdið lífshættulegu hjartadrepi

Upstream sources of the Denmark Strait Overflow : observations from a high-resolution mooring array

© The Author(s), 2016. This is the author's version of the work and is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Deep Sea Research Part I: Oceanographic Research Papers 112 (2016): 94-112, doi:10.1016/j.dsr.2016.02.007.We present the first results from a densely instrumented mooring array upstream of the Denmark Strait sill, extending from the Iceland shelfbreak to the Greenland shelf. The array was deployed from September 2011 to July 2012, and captured the vast majority of overflow water denser than 27.8 kgm-3 approaching the sill. The mean transport of overflow water over the length of the deployment was 3.54 ± 0.16 Sv. Of this, 0.58 Sv originated from below sill depth, revealing that aspiration takes place in Denmark Strait. We confirm the presence of two main sources of overflow water: one approaching the sill in the East Greenland Current and the other via the North Icelandic Jet. Using an objective technique based on the hydrographic properties of the water, the transports of these two sources are found to be 2.54 ± 0.17 Sv and 1.00 ± 0.17 Sv, respectively. We further partition the East Greenland Current source into that carried by the shelfbreak jet (1.50 ± 0.16 Sv) versus that transported by a separated branch of the current on the Iceland slope (1.04 ± 0.15 Sv). Over the course of the year the total overflow transport is more consistent than the transport in either branch; compensation takes place among the pathways that maintains a stable total overflow transport. This is especially true for the two East Greenland Current branches whose transports vary out of phase with each other on weekly and longer time scales. We argue that wind forcing plays a role in this partitioning.The mooring and analysis work was supported by NSF OCE research grants OCE-0959381 and OCE-1433958, by the European Union 7th Framework Programme (FP7 2007-2013) under grant agreement n. 308299 NACLIM, and and by the Research Council of Norway through the Fram Centre Flaggship project 6606-299.2017-03-2

Upstream sources of the Denmark Strait Overflow : observations from a high-resolution mooring array

© The Author(s), 2016. This is the author's version of the work and is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Deep Sea Research Part I: Oceanographic Research Papers 112 (2016): 94-112, doi:10.1016/j.dsr.2016.02.007.We present the first results from a densely instrumented mooring array upstream of the Denmark Strait sill, extending from the Iceland shelfbreak to the Greenland shelf. The array was deployed from September 2011 to July 2012, and captured the vast majority of overflow water denser than 27.8 kgm-3 approaching the sill. The mean transport of overflow water over the length of the deployment was 3.54 ± 0.16 Sv. Of this, 0.58 Sv originated from below sill depth, revealing that aspiration takes place in Denmark Strait. We confirm the presence of two main sources of overflow water: one approaching the sill in the East Greenland Current and the other via the North Icelandic Jet. Using an objective technique based on the hydrographic properties of the water, the transports of these two sources are found to be 2.54 ± 0.17 Sv and 1.00 ± 0.17 Sv, respectively. We further partition the East Greenland Current source into that carried by the shelfbreak jet (1.50 ± 0.16 Sv) versus that transported by a separated branch of the current on the Iceland slope (1.04 ± 0.15 Sv). Over the course of the year the total overflow transport is more consistent than the transport in either branch; compensation takes place among the pathways that maintains a stable total overflow transport. This is especially true for the two East Greenland Current branches whose transports vary out of phase with each other on weekly and longer time scales. We argue that wind forcing plays a role in this partitioning.The mooring and analysis work was supported by NSF OCE research grants OCE-0959381 and OCE-1433958, by the European Union 7th Framework Programme (FP7 2007-2013) under grant agreement n. 308299 NACLIM, and and by the Research Council of Norway through the Fram Centre Flaggship project 6606-299.2017-03-2

HLA-Cw*0602 associates with a twofold higher prevalence of positive streptococcal throat swab at the onset of psoriasis: a case control study

<p>Abstract</p> <p>Background</p> <p>The influence of streptococcal infections in the pathogenesis of psoriasis is not yet understood. <it>In vitro </it>data suggest that streptococcal factors influence T-cell function in psoriasis in a HLA-dependent manner, but studies designed to measure the HLA-C/Streptococci interaction are lacking. In the present study, we hypothesized that there is a statistical interaction between the result of streptococcal throat cultures and the presence of the HLA-Cw*0602 allele in psoriasis patients.</p> <p>Methods</p> <p>We performed a case control study using the "Stockholm Psoriasis Cohort" consisting of patients consecutively recruited within 12 months of disease onset (Plaque psoriasis = 439, Guttate psoriasis = 143), matched to healthy controls (n = 454) randomly chosen from the Swedish Population Registry. All individuals underwent physical examination including throat swabs and DNA isolation for HLA-Cw*0602 genotyping.</p> <p>The prevalence of positive streptococcal throat swabs and HLA-Cw*0602 was compared between patients and controls and expressed as odds ratios with 95% confidence intervals. Associations were evaluated separately for guttate and plaque psoriasis by Fisher's exact test.</p> <p>Results</p> <p>Regardless of disease phenotype, the prevalence of positive streptococcal throat swabs in HLA-Cw*0602 positive patients was twice the prevalence among HLA-Cw*0602 negative patients (OR = 5.8 C.I. = 3.57–9.67, p < 0.001), while no difference was observed among Cw*0602 positive versus negative controls.</p> <p>The corresponding odds ratios for the guttate and plaque psoriasis phenotypes were 3.5 (CI = 1.5–8.7, p = 0.01) and 2.3 (CI = 1.0–5.1, p = 0.02) respectively.</p> <p>Conclusion</p> <p>These findings suggest that among HLA-Cw*0602 positive psoriasis patients, streptococci may contribute to the onset or exacerbation of the inflammatory process independent of the disease phenotype. However, studies on the functional interaction between HLA-C and streptococcal factors are needed.</p

Bone pain and extremely low bone mineral density due to severe vitamin D deficiency in celiac disease

Case report A 29-year-old wheelchair-bound woman was presented to us by the gastroenterologist with suspected osteomalacia. She had lived in the Netherlands all her life and was born of Moroccan parents. Her medical history revealed iron deficiency, growth retardation, and celiac disease, for which she was put on a gluten-free diet. She had progressive bone pain since 2 years, difficulty with walking, and about 15 kg weight loss. She had a short stature, scoliosis, and pronounced kyphosis of the spine and poor condition of her teeth. Laboratory results showed hypocalcemia, an immeasurable serum25-hydroxyvitamin D level, and elevated parathyroid hormone and alkaline phosphatase levels. Spinal radiographs showed unsharp, low contrast vertebrae. Bone mineral density measurement at the lumbar spine and hip showed a T-score of -6.0 and -6.5, respectively. A bone scintigraphy showed multiple hotspots in ribs, sternum, mandible, and long bones. A duodenal biopsy revealed villous atrophy (Marsh 3C) and positive antibodies against endomysium, transglutaminase, and gliadin, compatible with active celiac disease. A bone biopsy showed severe osteomalacia but normal bone volume. She was treated with calcium intravenously and later orally. Furthermore, she was treated with high oral doses of vitamin D and a gluten-free diet. After a few weeks of treatment, her bone pain decreased, and her muscle strength improved. Discussion In this article, the pathophysiology and occurrence of osteomalacia as a complication of celiac disease are discussed. Low bone mineral density can point to osteomalacia as well as osteoporosis. © International Osteoporosis Foundation and National Osteoporosis Foundation 2011

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE Collaboration): a meta-analysis of genome-wide association studies

&lt;p&gt;Background - Various genome-wide association studies (GWAS) have been done in ischaemic stroke, identifying a few loci associated with the disease, but sample sizes have been 3500 cases or less. We established the METASTROKE collaboration with the aim of validating associations from previous GWAS and identifying novel genetic associations through meta-analysis of GWAS datasets for ischaemic stroke and its subtypes.&lt;/p&gt; &lt;p&gt;Methods - We meta-analysed data from 15 ischaemic stroke cohorts with a total of 12 389 individuals with ischaemic stroke and 62 004 controls, all of European ancestry. For the associations reaching genome-wide significance in METASTROKE, we did a further analysis, conditioning on the lead single nucleotide polymorphism in every associated region. Replication of novel suggestive signals was done in 13 347 cases and 29 083 controls.&lt;/p&gt; &lt;p&gt;Findings - We verified previous associations for cardioembolic stroke near PITX2 (p=2·8×10−16) and ZFHX3 (p=2·28×10−8), and for large-vessel stroke at a 9p21 locus (p=3·32×10−5) and HDAC9 (p=2·03×10−12). Additionally, we verified that all associations were subtype specific. Conditional analysis in the three regions for which the associations reached genome-wide significance (PITX2, ZFHX3, and HDAC9) indicated that all the signal in each region could be attributed to one risk haplotype. We also identified 12 potentially novel loci at p&#60;5×10−6. However, we were unable to replicate any of these novel associations in the replication cohort.&lt;/p&gt; &lt;p&gt;Interpretation - Our results show that, although genetic variants can be detected in patients with ischaemic stroke when compared with controls, all associations we were able to confirm are specific to a stroke subtype. This finding has two implications. First, to maximise success of genetic studies in ischaemic stroke, detailed stroke subtyping is required. Second, different genetic pathophysiological mechanisms seem to be associated with different stroke subtypes.&lt;/p&gt

Lymphocyte subsets in peripheral blood of patients with moderate-to-severe versus mild plaque psoriasis

In several studies peripheral blood T-cells have been quantified, yet few data are available on lymphocyte subsets in moderate-to-severe psoriasis (in terms of extent and activity of lesions) versus mild psoriasis. The objective is to compare lymphocyte subsets in peripheral blood of patients with moderate-to-severe disease (PASI-score ≥12) to patients with mild disease (PASI-score <12) and to healthy subjects. By means of flow cytometry method, lymphocytes in peripheral blood of 27 patients with psoriasis and 10 healthy controls were characterized. The absolute number of total lymphocytes was markedly decreased in patients with moderate-to-severe psoriasis as compared to patients with mild disease and normal subjects. Cellcounts of all analysed subsets were found to be increased in more severe psoriasis, except for CD8+CD45RO+ cells. The under-representation of CD8+CD45RO+ cells is compatible with the dynamics of acquired immunity, which requires a time log after the relapse of the lesions to differentiate from CD45RA+ naive cells

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

A meta-analysis of publicly available summary statistics on multiple sclerosis combined with three Nordic multiple sclerosis cohorts (21,079 cases, 371,198 controls) revealed seven sequence variants associating with multiple sclerosis, not reported previously. Using polygenic risk scores based on public summary statistics of variants outside the major histocompatibility complex region we quantified genetic overlap between common autoimmune diseases in Icelanders and identified disease clusters characterized by autoantibody presence/absence. As multiple sclerosis-polygenic risk scores captures the risk of primary biliary cirrhosis and vice versa (P = 1.6 x 10(-7), 4.3 x 10(-9)) we used primary biliary cirrhosis as a proxy-phenotype for multiple sclerosis, the idea being that variants conferring risk of primary biliary cirrhosis have a prior probability of conferring risk of multiple sclerosis. We tested 255 variants forming the primary biliary cirrhosis-polygenic risk score and found seven multiple sclerosis-associating variants not correlated with any previously established multiple sclerosis variants. Most of the variants discovered are close to or within immune-related genes. One is a low-frequency missense variant in TYK2, another is a missense variant in MTHFR that reduces the function of the encoded enzyme affecting methionine metabolism, reported to be dysregulated in multiple sclerosis brain.publishedVersio

Linkage analysis of HLA and candidate genes for celiac disease in a North American family-based study

BACKGROUND: Celiac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenesis of celiac disease. METHODS: DNA samples, from members of 62 families with a minimum of two cases of celiac disease, were genotyped at HLA and at 13 candidate gene regions, including CD4, CTLA4, four T-cell receptor regions, and 7 insulin-dependent diabetes regions. Two-point and multipoint heterogeneity LOD (HLOD) scores were examined. RESULTS: The highest two-point and multipoint HLOD scores were obtained in the HLA region, with a two-point HLOD of 3.1 and a multipoint HLOD of 5.0. For the candidate genes, we found no evidence for linkage. CONCLUSIONS: Our significant evidence of linkage to HLA replicates the known linkage and association of HLA with CD. In our families, likely candidate genes did not explain the susceptibility to celiac disease

Patterns of clinical presentation of adult coeliac disease in a rural setting

BACKGROUND: In recent years there has been increasing recognition that the pattern of presentation of coeliac disease may be changing. The classic sprue syndrome with diarrhoea and weight loss may be less common than the more subtle presentations of coeliac disease such as an isolated iron deficiency anaemia. As a result, the diagnosis of this treatable condition is often delayed or missed. Recent serologic screening tests allow non-invasive screening to identify most patients with the disease and can be applied in patients with even subtle symptoms indicative of coeliac disease. Both benign and malignant complications of coeliac disease can be avoided by early diagnosis and a strict compliance with a gluten free diet. AIM: The aim of this study is to evaluate the trends in clinical presentation of patients diagnosed with adult coeliac disease. In addition, we studied the biochemical and serological features and the prevalence of associated conditions in patients with adult coeliac disease. METHODS: This is an observational, retrospective, cross-sectional review of the medical notes of 32 adult patients attending the specialist coeliac clinic in a district general hospital. RESULTS: Anaemia was the most common mode of presentation accounting for 66% of patients. Less than half of the patients had any of the classical symptoms of coeliac disease and 25% had none of the classical symptoms at presentation. Anti-gliadin antibodies, anti-endomysial antibody and anti-tissue transglutaminase showed 75%, 68% and 90% sensitivity respectively. In combination, serology results were 100% sensitive as screening tests for adult coeliac disease. Fifty nine percent patients had either osteoporosis or osteopenia. There were no malignant complications observed during the follow up of our patients. CONCLUSION: Most adults with coeliac disease have a sub clinical form of the disease and iron deficiency anaemia may be its sole presenting symptom. Only a minority of adult coeliac disease patients present with classical mal-absorption symptoms of diarrhoea and weight loss. Patients with atypical form of disease often present initially to hospital specialists other than a gastro-enterologist. An awareness of the broad spectrum of presentations of adult coeliac disease, among doctors both in primary care and by the various hospital specialists in secondary care, is necessary to avoid delays in diagnosis. It is important to include serological screening tests for coeliac disease systematically in the evaluation of adult patients with unexplained iron deficiency anaemia or unexplained gastro-intestinal symptoms and in those who are considered to be at increased risk for coeliac disease