Perivellosa disease massive fibrin deposition, association with Down syndrome: case report and literature review

The disease perivellosa massive fibrin deposition (MPFD), is a condition characterized by uncontrolled mainly fibrin deposition intervillous space. The incidence worldwide is 0.028% per 1000 live births, there is only one case report where this condition is associated with trisomy 21, in our country there are no reports of this disease. The MPFD has high morbidity, obstetric mortality, recurrence, as well as neurodevelopmental significance of newborns. The etiology until the moment is unknown, difficult diagnosis and management for the obstetrician. The aim is to report MPFD association with trisomy 21 (T21) and a review of the medical literature regarding this condition

Predicting the onset of major depression in primary care:international validation of a risk prediction algorithm from Spain

BACKGROUND: The different incidence rates of, and risk factors for, depression in different countries argue for the need to have a specific risk algorithm for each country or a supranational risk algorithm. We aimed to develop and validate a predictD-Spain risk algorithm (PSRA) for the onset of major depression and to compare the performance of the PSRA with the predictD-Europe risk algorithm (PERA) in Spanish primary care. METHOD: A prospective cohort study with evaluations at baseline, 6 and 12 months. We measured 39 known risk factors and used multi-level logistic regression and inverse probability weighting to build the PSRA. In Spain (4574), Chile (2133) and another five European countries (5184), 11 891 non-depressed adult primary care attendees formed our at-risk population. The main outcome was DSM-IV major depression (CIDI). RESULTS: Six variables were patient characteristics or past events (sex, age, sex×age interaction, education, physical child abuse, and lifetime depression) and six were current status [Short Form 12 (SF-12) physical score, SF-12 mental score, dissatisfaction with unpaid work, number of serious problems in very close persons, dissatisfaction with living together at home, and taking medication for stress, anxiety or depression]. The C-index of the PSRA was 0.82 [95% confidence interval (CI) 0.79-0.84]. The Integrated Discrimination Improvement (IDI) was 0.0558 [standard error (s.e.)=0.0071, Zexp=7.88, p<0.0001] mainly due to the increase in sensitivity. Both the IDI and calibration plots showed that the PSRA functioned better than the PERA in Spain. CONCLUSIONS: The PSRA included new variables and afforded an improved performance over the PERA for predicting the onset of major depression in Spain. However, the PERA is still the best option in other European countries

Fluorescent poly(boron enaminoketonate)s : synthesis via the direct modification of polyisoxazoles obtained from the click polymerization of a homoditopic nitrile N-oxide and diynes

Fluorescent poly(boron enaminoketonate)s (PBEKs) were synthesized via the polycycloaddition of a homoditopic nitrile N-oxide to diynes followed by other polymer reactions. Click polycycloaddition of the nitrile N-oxide to various diynes effectively produced polyisoxazoles in high yields. The polyisoxazoles were transformed into the corresponding fluorescent PBEKs by forming the poly(beta-aminoenone) intermediates and reacting these intermediates with (C6F5)(2)BF center dot OEt2. The solution and solid-state optical properties of the PBEKs were evaluated by ultraviolet-visible (UV-vis) and fluorescence spectroscopy

Coils and power supplies design for the SMART tokamak

A new spherical tokamak, the SMall Aspect Ratio Tokamak (SMART), is currently being designed at the University of Seville. The goal of the machine is to achieve a toroidal field of 1 T, a plasma current of 500 kA and a pulse length of 500 ms for a plasma with a major radius of 0.4 m and minor radius of 0.25 m. This contribution presents the design of the coils and power supplies of the machine. The design foresees a central solenoid, 12 toroidal field coils and 8 poloidal field coils. Taking the current waveforms for these set of coils as starting point, each of them has been designed to withstand the Joule heating during the tokamak operation time. An analytical thermal model is employed to obtain the cross sections of each coil and, finally, their dimensions and parameters. The design of flexible and modular power supplies, based on IGBTs and supercapacitors, is presented. The topologies and control strategy of the power supplies are explained, together with a model in MATLAB Simulink to simulate the power supplies performance, proving their feasibility before the construction of the system.N

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations. Hispanic people account for approximately 17% of the United States population, and the genetic etiologies of RP of this ethnic group still remain not well defined. Utilizing next-generation sequencing (NGS), we screened mutations in known retinal disease-causing genes in an RP cohort of 35 unrelated Hispanic probands from the Miami area. We achieved a solving rate of 66% and identified 15 novel putative pathogenic mutations, including a frequent founder mutation disrupting PRPF31 splicing. Our data show that the mutation spectrum of Hispanic RP receives a significant impact from disease-causing alleles of Spanish origin and may also contain population-specific alleles