Ovarian Cysts, Vaginal Bleeding and Hypothyroidism in a 4-Year-Old Female with Down Syndrome: A Case of Van Wyk-Grumbach Syndrome

Van Wyk-Grumbach Syndrome (VWGS) is a constellation of symptoms including precocious puberty without adrenarche, delayed bone age, ovarian cysts, and hypothyroidism. We report here a four-year-old Down Syndrome patient who presented for evaluation of abdominal distension, vaginal bleeding, and bilateral ovarian cysts. Her work-up and management demonstrates the importance of screening for hypothyroidism in Down Syndrome, as well as considering the diagnosis of VWGS when evaluating a patient with precocious puberty and an apparent intra-abdominal surgical process. Given the presence of ovarian masses, a surgical emergency such as ovarian torsion or rupture must be ruled out. Even when the diagnosis of VWGS is confirmed, practitioners must be vigilant to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement

Thin, high atomic weight refractory film deposition for diffusion barrier, adhesion layer, and seed layer applications

Thin, nearly conformal films are required for semiconductor applications to function as diffusion barriers, adhesion layers and seed layers within trenches and vias. The deposition of high mass refractory films with conventional, noncollimated magnetron sputtering at low pressures shows better-than-expected conformality which is dependent on the degree of directionality of the depositing atoms: the conformality increases as the directionality increases. The primary cause appears to be a strongly angle-dependent reflection coefficient for the depositing metal atoms. As the deposition is made more directional by increasing the cathode-to-sample distance, the depositing atoms are more likely to reflect from the steep sidewalls, leading to better conformality as well as a less columnar film structure. © 1996 American Vacuum Society.S. M. Rossnagel et al., Journal of Vacuum Science & Technology B: Microelectronics and Nanometer Structures Processing, Measurement, and Phenomena 14, 1819 (1996) https://doi.org/10.1116/1.58856

Genetic variability and population structuring in the European Lanner Falcon Falco biarmicus feldeggii

We analysed variation in 10 polymorphic microsatellites and a variable portion of control region of mtDNA in 24 specimens from 3 populations of European Lanner Falcon Falco biarmicus feldeggii living in Sicily, continental Italy and the Balkan area to assess species' genetic diversity and population structure in the poorly investigated range of this threatened subspecies. We considered also a dataset of previously published mtDNA sequences of the other Lanner Falcon subspecies and of Hierofalco subgenus members (F. cherrug, F. rusticolus and F. jugger) to outline the genetic variation in the region on a wide-ranging basis. Regard with mtDNA we identified 6 haplotypes from our 24 European Lanner Falcon specimens, 3 of which were new and unique (1 Sicilian, 2 Balkans) and the 3 others already known and shared with other Hierofalcons. The 62.5% of our sample, including 14 of Sicilians and one Apulia specimen, belonged to haplotype H_24 shared with F. c. cherrug, F. rusticolus and F. jugger. MtDNA analyses of European Lanner Falcons showed a dispersed pattern of our specimens inside the main Hierofalco clades and haplo-groups in a way congruent to what found in recent literature. These analyses confirmed that none of the Hierofalcons form a monophyletic group, nonetheless the Lanner Falcons can be subdivided in two major Palaearctic (F. b. feldeggii, F. b. erlangeri and F. b. tanypterus) and sub-Sahara African (F. b. biarmicus and F. b. abyssinicus) clades. Microsatellites analysis yielded a first outline of population genetic structure, with genetic identity between continental Italy and Sicily and a moderate degree of differentiation of the Balkan area with Sicily and continental Italy. The 3 populations did not show significant departure from Hardy-Weinberg equilibrium, with low values of the inbreeding coefficients and had allele richness and haplotype diversity consistent with literature. Microsatellites analysis (Nm, frequency of private alleles) suggests a gene flow among the three examined populations and the connection of Sicilian population to those of mainland

Error mitigation, optimization, and extrapolation on a trapped ion testbed

Current noisy intermediate-scale quantum (NISQ) trapped-ion devices are subject to errors around 1% per gate for two-qubit gates. These errors significantly impact the accuracy of calculations if left unchecked. A form of error mitigation called Richardson extrapolation can reduce these errors without incurring a qubit overhead. We demonstrate and optimize this method on the Quantum Scientific Computing Open User Testbed (QSCOUT) trapped-ion device to solve an electronic structure problem. We explore different methods for integrating this error mitigation technique into the Variational Quantum Eigensolver (VQE) optimization algorithm for calculating the ground state of the HeH+ molecule at 0.8 Angstrom. We test two methods of scaling noise for extrapolation: time-stretching the two-qubit gates and inserting two-qubit gate identity operations into the ansatz circuit. We find the former fails to scale the noise on our particular hardware. Scaling our noise with global gate identity insertions and extrapolating only after a variational optimization routine, we achieve an absolute relative error of 0.363% +- 1.06 compared to the true ground state energy of HeH+. This corresponds to an absolute error of 0.01 +- 0.02 Hartree; outside chemical accuracy, but greatly improved over our non error mitigated estimate. We ultimately find that the efficacy of this error mitigation technique depends on choosing the right implementation for a given device architecture and sampling budget.Comment: 16 pages, 11 figure

Immunoblot analysis of the seroreactivity to recombinant Borrelia burgdorferi sensu lato antigens, including VlsE, in the long-term course of treated patients with Erythema migrans

Objective: We evaluated whether immunoblotting is capable of substantiating the posttreatment clinical assessment of patients with erythema migrans ( EM), the hallmark of early Lyme borreliosis. Methods: In 50 patients, seroreactivity to different antigens of Borrelia burgdorferi sensu lato was analyzed by a recombinant immunoblot test (IB) in consecutive serum samples from a minimum follow-up period of 1 year. Antigens in the IgG test were decorin- binding protein A, internal fragment of p41 (p41i), outer surface protein C (OspC), p39, variable major protein-like sequence expressed (VlsE), p58 and p100; those in the IgM test were p41i, OspC and p39. Immune responses were correlated with clinical and treatment-related parameters. Results: Positive IB results were found in 50% before, in 57% directly after therapy and in 44% by the end of the follow-up for the IgG class, and in 36, 43 and 12% for the IgM class. In acute and convalescence phase sera, VlsE was most immunogenic on IgG testing 60 and 70%), and p41i (46 and 57%) and OspC (40 and 57%) for the IgM class. By the end of the follow-up, only the anti-p41i lgM response was significantly decreased to 24%. Conclusions: No correlation was found between IB results and treatment-related parameters. Thus, immunoblotting does not add to the clinical assessment of EM patients after treatment. Copyright (c) 2008 S. Karger AG, Basel

Siderite micro-modification for enhanced corrosion protection

Production of oil and gas results in the creation of carbon dioxide (CO₂) which when wet is extremely corrosive owing to the speciation of carbonic acid. Severe production losses and safety incidents occur when carbon steel (CS) is used as a pipeline material if corrosion is not properly managed. Currently corrosion inhibitor (CI) chemicals are used to ensure that the material degradation rates are properly controlled; this imposes operational constraints, costs of deployment and environmental issues. In specific conditions, a naturally growing corrosion product known as siderite or iron carbonate (FeCO₃) precipitates onto the internal pipe wall providing protection from electrochemical degradation. Many parameters influence the thermodynamics of FeCO₃ precipitation which is generally favoured at high values of temperatures, pressure and pH. In this paper, a new approach for corrosion management is presented; micro-modifying the corrosion product. This novel mitigation approach relies on enhancing the crystallisation of FeCO₃ and improving its density, protectiveness and mechanical properties. The addition of a silicon-rich nanofiller is shown to augment the growth of FeCO₃ at lower pH and temperature without affecting the bulk pH. The hybrid FeCO₃ exhibits superior general and localised corrosion properties. The findings herein indicate that it is possible to locally alter the environment in the vicinity of the corroding steel in order to grow a dense and therefore protective FeCO₃ film via the incorporation of hybrid organic-inorganic silsesquioxane moieties. The durability and mechanical integrity of the film is also significantly improved

Instabilities in extreme magnetoconvection

Thermal convection in an electrically conducting fluid (for example, a liquid metal) in the presence of a static magnetic field is considered in this chapter. The focus is on the extreme states of the flow, in which both buoyancy and Lorentz forces are very strong. It is argued that the instabilities occurring in such flows are often of unique and counter-intuitive nature due to the action of the magnetic field, which suppresses conventional turbulence and gives preference to two-dimensional instability modes not appearing in more conventional convection systems. Tools of numerical analysis suitable for such flows are discussed

Short and long term effects of a lifestyle intervention for construction workers at risk for cardiovascular disease: a randomized controlled trial

<p>Abstract</p> <p>Background</p> <p>The prevalence of overweight and elevated cardiovascular disease (CVD) risk among workers in the construction industry is relatively high. Improving lifestyle lowers CVD risk and may have work-related benefits. The purpose of the study was to evaluate the effects on physical activity (PA), diet, and smoking of a lifestyle intervention consisting of individual counseling among male workers in the construction industry with an elevated risk of cardiovascular disease (CVD).</p> <p>Methods</p> <p>In a randomized controlled trial including 816 male blue- and white-collar workers in the construction industry with an elevated risk of CVD, usual care was compared to a 6-month lifestyle intervention. The intervention consisted of individual counseling using motivational interviewing techniques, and was delivered by an occupational physician or occupational nurse. In three face to face and four telephone contacts, the participant's risk profile, personal determinants, and barriers for behavior change were discussed, and personal goals were set. Participants chose to aim at either diet and PA, or smoking. Data were collected at baseline and after six and 12 months, by means of a questionnaire. To analyse the data, linear and logistic regression analyses were performed.</p> <p>Results</p> <p>The intervention had a statistically significant beneficial effect on snack intake (β-1.9, 95%CI -3.7; -0.02) and fruit intake (β 1.7, 95%CI 0.6; 2.9) at 6 months. The effect on snack intake was sustained until 12 months; 6 months after the intervention had ended (β -1.9, 95%CI -3.6; -0.2). The intervention effects on leisure time PA and metabolic equivalent-minutes were not statistically significant. The beneficial effect on smoking was statistically significant at 6 (OR smoking 0.3, 95%CI 0.1;0.7), but not at 12 months (OR 0.8, 95%CI 0.4; 1.6).</p> <p>Conclusions</p> <p>Beneficial effects on smoking, fruit, and snack intake can be achieved by an individual-based lifestyle intervention among male construction workers with an elevated risk of CVD. Future research should be done on strategies to improve leisure time PA and on determinants of maintenance of changed behavior. Considering the rising prevalence of unhealthy lifestyle and CVD, especially in the aging population, implementation of this intervention in the occupational health care setting is recommended.</p> <p>Trial registration</p> <p>Current Controlled Trials <a href="http://www.controlled-trials.com/ISRCTN60545588">ISRCTN60545588</a></p

Mycosis fungoides: is it a Borrelia burgdorferi-associated disease?

Mycosis fungoides (MF) is the most frequently found cutaneous T-cell lymphoma with an unknown aetiology. Several aetiopathogenetic mechanisms have been postulated, including persistent viral or bacterial infections. We looked for evidence of Borrelia burgdorferi (Bb), the aetiologic agent of Lyme disease (LD), in a case study of MF patients from Northeastern Italy, an area with endemic LD. Polymerase chain reaction for the flagellin gene of Bb was used to study formalin-fixed paraffin-embedded lesional skin biopsies from 83 patients with MF and 83 sex- and age-matched healthy controls with homolocalised cutaneous nevi. Borrelia burgdorferi-specific sequence was detected in 15 out of 83 skin samples of patients with MF (18.1%), but in none out of 83 matched healthy controls (P<0.0001). The Bb positivity rates detected in this study support a possible role for Bb in the aetiopathogenesis of MF in a population endemic for LD