Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report

<p>Abstract</p> <p>Introduction</p> <p>An unprovoked thombotic event in a patient is cause for further evaluation of an underlying hypercoaguable state. The investigation should include a thorough search, including checking for a variety of known inherited and acquired hypercoaguble states (protein C or S deficiency, anti-phospholipid antibodies, and anti-thrombin III deficiency) and gene mutations that predispose patients to an increased risk of clotting (for example, prothrombin gene 20210 mutation, factor V Leiden, and the <it>JAK2 V617F </it>mutation).</p> <p>Case presentation</p> <p>We report the case of a 38-year-old Caucasian woman with spontaneous, unprovoked abdominal venous thrombosis and demonstrate how testing for the <it>JAK2 V617F </it>mutation was useful in unmasking an underlying hypercoaguable state.</p> <p>Conclusions</p> <p><it>JAK2 V617F</it>-positive myeloproliferative neoplasm was diagnosed. This case illustrates the importance of testing for <it>JAK2 V617F </it>in patients presenting with Budd-Chiari syndrome, even in the absence of overt hematologic abnormalities, in order to establish a diagnosis of underlying myeloproliferative neoplasm.</p

Ginkgo Biloba Extract Ameliorates Oxidative Phosphorylation Performance and Rescues Aβ-Induced Failure

Energy deficiency and mitochondrial failure have been recognized as a prominent, early event in Alzheimer's disease (AD). Recently, we demonstrated that chronic exposure to amyloid-beta (Abeta) in human neuroblastoma cells over-expressing human wild-type amyloid precursor protein (APP) resulted in (i) activity changes of complexes III and IV of the oxidative phosphorylation system (OXPHOS) and in (ii) a drop of ATP levels which may finally instigate loss of synapses and neuronal cell death in AD. Therefore, the aim of the present study was to investigate whether standardized Ginkgo biloba extract LI 1370 (GBE) is able to rescue Abeta-induced defects in energy metabolism

Budd-Chiari Syndrome: Long term success via hepatic decompression using transjugular intrahepatic porto-systemic shunt

<p>Abstract</p> <p>Background</p> <p>Budd-Chiari syndrome (BCS) generally implies thrombosis of the hepatic veins and/or the intrahepatic or suprahepatic inferior vena cava. Treatment depends on the underlying cause, the anatomic location, the extent of the thrombotic process and the functional capacity of the liver. It can be divided into medical treatment including anticoagulation and thrombolysis, radiological procedures such as angioplasty and transjugular intrahepatic porto-systemic shunt (TIPS) and surgical interventions including orthotopic liver transplantation (OLT). Controlled trials or reports on larger cohorts are limited due to rare disease frequency. The aim of this study was to report our single centre long term results of patients with BCS receiving one of three treatment options i.e. medication only, TIPS or OLT on an individually based decision of our local expert group.</p> <p>Methods</p> <p>20 patients with acute, subacute or chronic BCS were treated between 1988 and 2008. Clinical records were analysed with respect to underlying disease, therapeutic interventions, complications and overall outcome.</p> <p>Results</p> <p>16 women and 4 men with a mean age of 34 ± 12 years (range: 14-60 years) at time of diagnosis were included. Myeloproliferative disorders or a plasmatic coagulopathy were identified as underlying disease in 13 patients, in the other patients the cause of BCS remained unclear. 12 patients presented with an acute BCS, 8 with a subacute or chronic disease. 13 patients underwent TIPS, 4 patients OLT as initial therapy, 2 patients required only symptomatic therapy, and one patient died from liver failure before any specific treatment could be initiated. Eleven of 13 TIPS patients required 2.5 ± 2.4 revisions (range: 0-8). One patient died from his underlying hematologic disease. The residual 12 patients still have stable liver function not requiring OLT. All 4 patients who underwent OLT as initial treatment, required re-OLT due to thrombembolic complications of the graft. Survival in the TIPS group was 92.3% and in the OLT group 75% during a median follow-up of 4 and 11.5 years, respectively.</p> <p>Conclusion</p> <p>Our results confirm the role of TIPS in the management of patients with acute, subacute and chronic BCS. The limited number of patients with OLT does not allow to draw a meaningful conclusion. However, the underlying disease may generate major complications, a reason why OLT should be limited to patients who cannot be managed by TIPS.</p

Bone mineral density in partially recovered early onset anorexic patients - a follow-up investigation

<p>Abstract</p> <p>Background and aims</p> <p>There still is a lack of prospective studies on bone mineral development in patients with a history of early onset Anorexia nervosa (AN). Therefore we assessed associations between bone mass accrual and clinical outcomes in a former clinical sample. In addition to an expected influence of regular physical activity and hormone replacement therapy, we explored correlations with nutritionally dependent hormones.</p> <p>Methods</p> <p>3-9 years (mean 5.2 ± 1.7) after hospital discharge, we re-investigated 52 female subjects with a history of early onset AN. By means of a standardized approach, we evaluated the general outcome of AN. Moreover, bone mineral content (BMC) and bone mineral density (BMD) as well as lean and fat mass were measured by dual-energy x-ray absorptiometry (DXA). In a substudy, we measured the serum concentrations of leptin and insulin-like growth factor-I (IGF-I).</p> <p>Results</p> <p>The general outcome of anorexia nervosa was good in 50% of the subjects (BMI ≥ 17.5 kg/m², resumption of menses). Clinical improvement was correlated with BMC and BMD accrual (χ²= 5.62/χ²= 6.65, p = 0.06 / p = 0.036). The duration of amenorrhea had a negative correlation with BMD (r = -.362; p < 0.01), but not with BMC. Regular physical activity tended to show a positive effect on bone recovery, but the effect of hormone replacement therapy was not significant. Using age-related standards, the post-discharge sample for the substudy presented IGF-I levels below the 5^thpercentile. IGF-I serum concentrations corresponded to the general outcome of AN. By contrast, leptin serum concentrations showed great variability. They correlated with BMC and current body composition parameters.</p> <p>Conclusions</p> <p>Our results from the main study indicate a certain adaptability of bone mineral accrual which is dependent on a speedy and ongoing recovery. While leptin levels in the substudy tended to respond immediately to current nutritional status, IGF-I serum concentrations corresponded to the individual's age and general outcome of AN.</p

Systemic thrombolysis for acute, severe Budd-Chiari syndrome

Budd-Chiari syndrome (BCS) or hepatic venous outflow obstruction, is a rare and complex clinical entity, with diverse aetiology and a wide range of presentations. Its rarity and heterogeneity create significant challenges for evidence-based clinical decision-making, particularly in the even more infrequent setting of acute BCS presentation. Here we present the case of a young woman with acute, severe BCS, where treatment alternatives were limited due to a significant IVC thrombus burden. A clearly defined acute onset allowed the prompt use of systemic thrombolysis, conducted in consultation with a multi-disciplinary team of clinicians, with close monitoring for both treatment response and complications. Her treatment resulted in resolution of hepatic vein occlusion and prevention of the potentially significant clinical sequelae. We review the literature and discuss current opinion in the management of BCS

Unconventional superconductivity in magic-angle graphene superlattices

The understanding of strongly-correlated materials, and in particular unconventional superconductors, has puzzled physicists for decades. Such difficulties have stimulated new research paradigms, such as ultra-cold atom lattices for simulating quantum materials. Here we report on the realization of intrinsic unconventional superconductivity in a 2D superlattice created by stacking two graphene sheets with a small twist angle. For angles near $1.1^\circ$, the first `magic' angle, twisted bilayer graphene (TBG) exhibits ultra-flat bands near charge neutrality, which lead to correlated insulating states at half-filling. Upon electrostatic doping away from these correlated insulating states, we observe tunable zero-resistance states with a critical temperature $T_c$ up to 1.7 K. The temperature-density phase diagram shows similarities with that of the cuprates, including superconducting domes. Moreover, quantum oscillations indicate small Fermi surfaces near the correlated insulating phase, in analogy with under-doped cuprates. The relative high $T_c$, given such small Fermi surface (corresponding to a record-low 2D carrier density of $10^{11} \textrm{cm}^{-2}$ , renders TBG among the strongest coupling superconductors, in a regime close to the BCS-BEC crossover. These novel results establish TBG as the first purely carbon-based 2D superconductor and as a highly tunable platform to investigate strongly-correlated phenomena, which could lead to insights into the physics of high-$T_c$ superconductors and quantum spin liquids.Comment: 18 pages, 9 figures (with Methods). A few typos correcte

Laparoscopic versus open appendectomy in children: A retrospective comparative study of 2,332 cases

Aim: The laparoscopic treatment of paediatric appendicitis remains controversial, especially in the presence of complications. This study evaluated the outcomes of open appendectomy (OA) and laparoscopic appendectomy (LA) by analysing the data from a multicentre study