Structure and morphology of red pigments based on sepiolite.

Sepiolite is an important raw fibrous material. A method to prepare red pigments based on sepiolite through the thermal treatment of sepiolite with sulfur and sodium sulfide hydrate is reported. Sepiolite was heated until 800 °C in order to remove zeolitic water, the first coordinated water, the second coordinated water, and structural hydroxyls. Several [S/Na2S]molar ratios in the range 0.5-7 were employed. The properties of these pigments were studied by different analytical techniques, such as colorimetric analysis, thermal analysis, Fourier transform infrared (FTIR) spectroscopy, X-ray diffraction and scanning electron microscopy. The samples with [S/Na2S] = 0.5 and 1, corresponding to high contents of sodium sulfide in the synthesis procedure, exhibit high values of the colorimetric parameter CIE a* and a maximum reflectance in the visible zone belonging to red, based on the red colour of the samples. Under the reducing conditions of the synthesis, sulfur forms polysulfides of the general formula [Sx]2-. The sodium sulfide reacts with the excess S to form polysulfides as well. From the polysulfides, the radical anions of the general formula [Sx/2]˙- originate and they are identified as the chromophore groups responsible for the color in the sulfur-based pigment analogues of ultramarines. The red colour of the samples could be mainly attributed to the presence of S4 and S4˙- identified by FTIR.

Capacidades sanitarias del buque de proyección estratégica L-61 Juan Carlos I. Lecciones médicas identificadas tras las maniobras FLOTEX-17 / Health capacity of the strategic projection warship Juan Carlos I. Medical lessons identified after the FLOTEX-17 maneouvers

El Buque de Proyección Estratégica L-61 Juan Carlos I (L-61 JC I) es el buque de mayores dimensiones que ha tenido la Armada española en toda su historia. Puede desarrollar cuatro perfiles de misión: anfibio, portaviones, transporte estratégico y ayuda humanitaria. En todos ellos su capacidad sanitaria Role 2 juega un papel determinante gracias a las importantes prestaciones médicas con las que cuenta el buque. Las maniobras FLOTEX-17 realizadas en el Mar Mediterráneo en junio de 2017 en las que participaron 29 buques y más de 3500 efectivos fue la primera vez que embarcó un Role 2 en el L-61 JC I. El objetivo de este artículo es describir las características técnicas y sanitarias del buque, las lecciones identificadas obtenidas tras las maniobras navales y analizar las semejanzas y diferencias de buques similares de marinas de guerra aliadas

Strategic Projection Ship L-61 Juan Carlos I (L-61 JC I) is the largest ship that the Spanish Navy has had in its history. This warship can develop four mission profiles: amphibian, aircraft carrier, strategic transport and humanitarian aid. In all of them, Role 2 medical capacity and capability plays a decisive role thanks to the important medical benefits available in the ship. FLOTEX-17 maneuvers carried out in the Mediterranean Sea in June 2017 with the participation of 29 warships and more than 3,500 navy members was the first time that a Role 2 was shipped in the L-61 JC I. The purpose of this article is to describe warship technical and medical characteristics, lessons identified after the naval maneuvers and analyze the similarities and differences of similar warships of allied navies

Noninvasive Prenatal Testing: Comparison of Two Mappers and Influence in the Diagnostic Yield.

OBJECTIVE: The aim of this study was to determine if the use of different mappers for NIPT may vary the results considerably. METHODS: Peripheral blood was collected from 217 pregnant women, 58 pathological (34 pregnancies with trisomy 21, 18 with trisomy 18, and 6 with trisomy 13) and 159 euploid. MPS was performed following a manufacturer's modified protocol of semiconductor sequencing. Obtained reads were mapped with two different software programs: TMAP and HPG-Aligner, comparing the results. RESULTS: Using TMAP, 57 pathological samples were correctly detected (sensitivity 98.28%, specificity 93.08%): 33 samples as trisomy 21 (sensitivity 97.06%, specificity 99.45%), 16 as trisomy 18 (sensibility 88.89%, specificity 93.97%), and 6 as trisomy 13 (sensibility 100%, specificity 100%). 11 false positives, 1 false negative, and 2 samples incorrectly identified were obtained. Using HPG-Aligner, all the 58 pathological samples were correctly identified (sensibility 100%, specificity 96.86%): 34 as trisomy 21 (sensibility 100%, specificity 98.91%), 18 as trisomy 18 (sensibility 100%, specificity 98.99%), and 6 as trisomy 13 (sensibility 100%, specificity 99.53%). 5 false positives were obtained. CONCLUSION: Different mappers use slightly different algorithms, so the use of one mapper or another with the same batch file can provide different results.

[Infantile epileptic encephalopathy: a good genetic study should be a priority]. / Encefalopatia epileptica del lactante: lo prioritario es un buen estudio genetico.

TITLE: Encefalopatia epileptica del lactante: lo prioritario es un buen estudio genetico.

Noninvasive fetal sex determination in maternal plasma: a prospective feasibility study.

PURPOSE: To prospectively validate a protocol for noninvasive fetal sex determination in maternal plasma and demonstrate its applicability to clinical practice. METHODS: Peripheral blood from 404 pregnant women undergoing prenatal invasive testing was collected from 6 to 23 weeks of gestation. Real-time PCR was performed for the SRY gene and multicopy DYS14 marker sequence located within the TSPY gene by the TaqMan minor groove binder probe assay as a first-line test. Owing to a false-positive result, amplification of repetitive motifs of the DAZ gene region was also tested as a second-line test performed in the last 232 patients enrolled in our series. A diagnostic algorithm was designed using a combination of these three markers. Fetal gender determined by noninvasive prenatal diagnosis (NIPD) was compared with that diagnosed by quantitative fluorescent PCR after invasive testing or ultrasound. RESULTS: A single false-positive result was obtained in the first 172 pregnancies. Reporting criteria were modified in the subsequent 232 pregnancies, giving an overall sensitivity and specificity of 100% (95% CI 99.8-100%) and 99.5% (95% CI 98.1-100%), respectively. Pregnancy outcome was obtained in all cases, including 221 male-bearing and 183 female-bearing pregnancies. CONCLUSION: NIPD for fetal sex determination in maternal plasma is highly accurate and clinically applicable if robust reporting criteria are applied.

Application of QF-PCR for the prenatal assessment of discordant monozygotic twins for fetal sex.

OBJECTIVE: To establish the utility of quantitative fluorescent polymerase chain reaction (QF-PCR) in order to determine the zygosity of multiple pregnancies, as well as to define the origin of the most frequent aneuploidies in amniotic fluid samples. METHODS: We describe the case of a monochorionic (MC) diamniotic (DA) pregnancy with phenotypically discordant twins (nuchal cystic hygroma and non-immune hydrops in twin A and no anomalies in twin B). QF-PCR was performed for rapid prenatal diagnosis in uncultured amniocytes and subsequently in cultured cells. Polymorphic markers for chromosomes X, Y, 13, 18 and 21 were used for determination of zygosity as well as sex chromosome aneuploidy. RESULTS: Twin A showed a Turner Syndrome (TS) mosaicism pattern by QF-PCR in uncultured amniocytes. The monozygotic origin of the pregnancy was determined. Interphase fluorescence in situ hybridization (I-FISH) in this sample showed a mosaicism X0/XY (83/17%). Cytogenetic analysis revealed a 45,X0 karyotype in twin A and a 46,XY karyotype in twin B. CONCLUSIONS: QF-PCR is a reliable tool for the determination of the zygosity independently of the chorionicity and the fetal sex in case of twin pregnancy. Testing both direct and cultured cells can provide useful results for genetic counselling in chromosomal mosaicisms.

[Phenotypic consequences of chromosome abnormalities]. / Repercusión clínica de las anomalías cromosómicas.

The incidence of chromosome anomalies in newborn infants is 0.7-0.8 %. The phenotypic manifestations of chromosomal abnormalities are highly diverse. These anomalies may be present in phenotypically normal individuals in whom they can increase the risk of recurrent miscarriage and birth defects and/or mental retardation. It is important to determine this risk to provide patients with appropriate genetic counseling.

Repercusión clínica de las anomalías cromosómicas / Phenotypic consequences of chromosome abnormalities

Las anomalías cromosómicas están presentes en un 0,7-0,8 por ciento de los recién nacidos vivos. La repercusión fenotípica de las cromosomopatías es muy diversa. Pueden estar presentes también en individuos fenotípicamente normales, pero con riesgo elevado de abortos de repetición y de descendencia afectada por defectos congénitos y/o retraso mental. Es importante conocer la repercusión de las diferentes anomalías cromosómicas con el fin de proporcionar un asesoramiento correcto a los pacientes (AU)

Alteraciones cromosómicas en la leucemia linfoblástica aguda / Cytogenetic abnormalities in acute lymphoblastic leukemia

El análisis citogenético de las células blásticas en niños con leucemia linfoblástica aguda (LLA) ha permitido el reconocimiento de alteraciones cromosómicas específicas de gran importancia pronóstica. La mayoría de los casos de LLA tienen cariotipos alterados, bien en el número de cromosomas (ploidía) bien como cambios estructurales: translocaciones, deleciones o inversiones. Una gran parte de estas alteraciones se asocian con determinados tipos citomorfológicos e inmunológicos; sin embargo, el mayor impacto en el tratamiento de pacientes con LLA ha sido la demostración de que la citogenética es un indicador pronóstico independiente de otras variables clínicas. Determinados cariotipos se asocian con un buen pronóstico, mientras que otros indican un peor resultado, lo cual ha llevado a la administración de terapias alternativas en función del riesgo. La hiperdiploidía con número modal mayor de 50 cromosomas representa el 25-30% de los casos y se relaciona con los mejores resultados, mientras que translocaciones como la t(9;22) y la t(4;11) se asocian a los peores resultados. Este trabajo reúne las anomalías cromosómicas más importantes en LLA, su valor pronóstico y sus implicaciones terapéuticas (AU)

[Cytogenetic abnormalities in acute lymphoblastic leukemia]. / Alteraciones cromosómicas en la leucemia linfoblástica aguda.

Cytogenetic analysis of blast cells in childhood acute lymphoblastic leukemia has led to the recognition of specific non-random chromosomal abnormalities with prognostic value. Most patients with ALL show karyotype abnormalities, either in chromosome number (ploidy) or as structural changes such as translocations, inversions, or deletions. Many of these chromosomal alterations are associated with specific cytomorphological and immunological types. The greatest impact on patient management has been the finding that the cytogenetic result is an independent prognostic indicator. Certain karyotypes are associated with a favorable prognosis while others indicate a poor outcome. This has led to the administration of alternative therapies according to risk. For instance, hyperdiploidy with a modal chromosome number of 51 or greater, which represents 25-30 % of all cases of ALL, has proved to have the most favorable prognosis among established ploidy groups, whilst translocations such as the Philadelphia translocation t(9;22) and t(4;11) are associated with a poor prognosis. This study focuses on the most important chromosomal abnormalities found in childhood ALL and their prognostic and therapeutic implications.

[WAGR syndrome: a case report]. / Síndrome de WAGR. A propósito de un caso.

OBJECTIVE: WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature. PATIENTS AND METHODS: Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used. RESULTS: Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia. CONCLUSIONS: The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.

Drug fever attributable to Calcium Dobesilate.

Many drugs may cause fever through different mechanisms, the most frequent being hypersensitivity. We are reporting on two cases of drug fever attributable to Calcium Dobesilate, a drug used for treating chronic venous insufficiency and other vascular disturbances. The diagnosis was made by oral challenge with the drug. It reproduced the clinical picture referred to in the anamnesis, including hyperthermia. In patient 2 the challenge proved to be useful though she was being treated with oral corticosteroids for systemic lupus erythematosus (SLE). Cutaneous tests (PRICK and patch tests) were negative with the suspected drug; however we think that an immunological mechanism could be responsible for the reactions.