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Introduction and aims: Colorectal cancer (CRC) is one of the most prevalent cancers worldwide, and significantly contributes to cancer-related deaths. Most cases arise from adenomatous polyps. Biomarkers currently play an important role in tumor progression. Our aim was to identify perivascular mast cells and analyze the expression of laminin-332, MMP-9, and VEGF in cases of adenoma and CRC in humans. Materials and methods: Patients were selected at the Coloproctology Service and samples were obtained through biopsies. Adenoma and CRC slides were examined, utilizing immunohistochemistry to detect molecules, and were processed, using 1% Alcian Blue (pH 0.5) for mast cell staining. Results: Higher density of perivascular mast cells was observed in adenomas. Laminin-332 expression revealed basement membrane discontinuity associated with tumor invasion in CRC. MMP-9 immunostaining in adenoma was detected in glandular epithelium and lining epithelium, in areas close to the basement membrane, whereas in CRC, the enzyme was found in the cytoplasm of invasive clusters. VEGF expression was associated with cell atypia in adenoma and in areas of disorganization of the epithelium-connective tissue interface in CRC. VEGF has also been detected in endothelial cells from microvessels. Conclusions: We demonstrated the different patterns of perivascular mast cells and molecular expression in colorectal neoplasms. Those analyses favor the recognition of the predisposition to the disease, or its early stage, and have the potential to define the molecular profile of the lesions. Resumen: Introducción y objetivos: El cáncer colorrectal (CCR) es uno de los más prevalentes en el mundo y contribuye significativamente a las muertes relacionadas con el cáncer. La mayoría de los casos surgen de pólipos adenomatosos. Actualmente, los biomarcadores juegan un papel importante en la progresión tumoral. Nuestro objetivo fue identificar mastocitos perivasculares y analizar la expresión de laminina-332, MMP-9 y VEGF en casos humanos de adenoma y CCR. Materiales y métodos: Los pacientes fueron seleccionados en el Servicio de Coloproctología y las muestras se obtuvieron mediante biopsias. Las laminillas de adenoma y CCR se examinaron mediante inmunohistoquímica para detectar moléculas y se procesaron con azul Alcian al 1% (pH 0,5) para la tinción de mastocitos. Resultados: Se observó una mayor densidad de mastocitos perivasculares en los adenomas. La expresión de laminina-332 reveló discontinuidad de la membrana basal asociada con la invasión tumoral en el CCR. Se detectó inmunotinción de MMP-9 en adenoma en epitelios glandulares y de revestimiento en áreas cercanas a la membrana basal, mientras que en CCR la enzima se encontró en el citoplasma de grupos invasivos. La expresión de VEGF se asoció con atipia celular en adenoma y en áreas de desorganización de la interfaz entre el epitelio y el tejido conectivo en CCR. Se ha detectado VEGF en células endoteliales de microvasos. Conclusiones: Demostramos los diferentes patrones de mastocitos perivasculares y expresión molecular en neoplasias colorrectales. Estos análisis favorecen el reconocimiento de la predisposición o estadio temprano de la enfermedad y tienen el potencial de definir el perfil molecular de las lesiones.

Resumen: Introducción y objetivos: El cáncer colorrectal (CCR) es uno de los más prevalentes en el mundo y contribuye significativamente a las muertes relacionadas con el cáncer. La mayoría de los casos surgen de pólipos adenomatosos. Actualmente, los biomarcadores desempeñan un papel importante en la progresión tumoral. Nuestro objetivo fue identificar mastocitos perivasculares y analizar la expresión de laminina-332, MMP-9 y VEGF en casos humanos de adenoma y CCR. Materiales y métodos: Los pacientes fueron seleccionados en el servicio de coloproctología y las muestras se obtuvieron mediante biopsias. Las laminillas de adenoma y CCR se examinaron mediante inmunohistoquímica para detectar moléculas y se procesaron con azul alcián al 1% (pH 0.5) para la tinción de mastocitos. Resultados: Se observó una mayor densidad de mastocitos perivasculares en los adenomas. La expresión de laminina-332 reveló discontinuidad de la membrana basal asociada con la invasión tumoral en el CCR. Se detectó inmunotinción de MMP-9 en el adenoma en epitelios glandulares y de revestimiento en áreas cercanas a la membrana basal, mientras que en el CCR la enzima se encontró en el citoplasma de grupos invasivos. La expresión de VEGF se asoció con atipia celular en el adenoma y en áreas de desorganización de la interfaz entre el epitelio y el tejido conectivo en el CCR. Se ha detectado VEGF en células endoteliales de microvasos. Conclusiones: Demostramos los diferentes patrones de mastocitos perivasculares y expresión molecular en neoplasias colorrectales. Estos análisis favorecen el reconocimiento de la predisposición o estadio temprano de la enfermedad y tienen el potencial de definir el perfil molecular de las lesiones. Abstract: Introduction and objectives: Colorectal cancer (CRC) is one of the most prevalent cancers worldwide, and significantly contributes to cancer-related deaths. Most cases arise from adenomatous polyps. Biomarkers currently play an important role in tumor progression. Our aim was to identify perivascular mast cells and analyze the expression of laminin-332, MMP-9, and VEGF in cases of adenoma and CRC in humans. Materials and methods: Patients were selected at the Coloproctology Service and samples were obtained through biopsies. Adenoma and CRC slides were examined, utilizing immunohistochemistry to detect molecules, and were processed, using 1% Alcian Blue (pH .5) for mast cell staining. Results: Higher density of perivascular mast cells was observed in adenomas. Laminin-332 expression revealed basement membrane discontinuity associated with tumor invasion in CRC. MMP-9 immunostaining in adenoma was detected in glandular epithelium and lining epithelium, in areas close to the basement membrane, whereas in CRC, the enzyme was found in the cytoplasm of invasive clusters. VEGF expression was associated with cell atypia in adenoma and in areas of disorganization of the epithelium-connective tissue interface in CRC. VEGF has also been detected in endothelial cells from microvessels. Conclusions: We demonstrated the different patterns of perivascular mast cells and molecular expression in colorectal neoplasms. Those analyses favor the recognition of the predisposition to the disease, or its early stage, and have the potential to define the molecular profile of the lesions.

Background: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods: Case–control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results: The prevalence of nevus anemicus (NA) (p

Resumen: Antecedentes: El diagnóstico de la neurofibromatosis tipo 1 (NF1) habitualmente se demora en niños sin antecedentes familiares. Nuestro objetivo fue definir la prevalencia y características de las manifestaciones cutáneas prevalentes en la NF1, en comparación con la población general, que siguen siendo excluidas de los criterios diagnósticos para NF1. Pacientes y métodos: Estudio de casos y controles, pareado por grupos de edad, en el que se incluyó a 108 pacientes diagnosticados de NF1 y 137 controles sanos. Resultados: La prevalencia de nevus anemicus (NA) (p < 0,001) y xantogranuloma juvenil (XJ) (p < 0,001) fue significativamente superior en la población afectada de NF1, en comparación con el grupo control. Se estimaron una especificidad del 99,27% (intervalo de confianza: 95,4-99,96%) y un valor predictivo positivo (VPP) del 98,80% (92,54-99,94%) para NA, y una especificidad del 99,27% (95,4-99,96%) y VPP del 92,86% (64,17-99,63%) para XJ en el diagnóstico de NF1 en niños que presentan 6 o más manchas café con leche. También se evidenciaron diferencias estadísticamente significativas en la distribución por fototipos (p = 0,025) y con el generalizado sin otra causa conocida (p

This study aimed to evaluate Y-TZP surface after different airborne particle abrasion protocols. Seventy-six Y-TZP ceramic blocks (5×4×4) mm³ were sintered and polished. Specimens were randomly divided into 19 groups (n=4) according to control group and 3 factors: a) protocol duration (2 and 4 s); b) particle size (30 µm, alumina coated silica particle; 45 µm, alumina particle; and 145 µm, alumina particle) and; c) pressure (1.5, 2.5 and 4.5 bar). Airborne particle abrasion was performed following a strict protocol. For qualitative and quantitative results, topography surfaces were analyzed in a digital optical profilometer (Interference Microscopic), using different roughness parameters (Ra, Rq, Rz, X-crossing, Mr1, Mr2 and Sdr) and 3D images. Surface roughness also was analyzed following the primer and silane applications on Y-TZP surfaces. One-way ANOVA revealed that treatments (application period, particle size and pressure of particle blasting) provided significant difference for all roughness parameters. The Tukey test determined that the significant differences between groups were different among roughness parameters. In qualitative analysis, the bonding agent application reduced roughness, filing the valleys in the surface. The protocols performed in this study verified that application period, particle size and pressure influenced the topographic pattern and amplitude of roughness.O objetivo deste estudo foi avaliar a superfície de uma cerâmica à base de zircônia tetragonal estabilizada por ítria (Y-TZP) após diferentes protocolos de jateamento com partículas. Setenta e seis blocos cerâmicos de Y-TZP (5 x 4 x 4) mm³ foram sinterizados e polidos. As amostras foram randomicamente divididas em 19 grupos (n=4) sendo um controle e 18 grupos utilizando 3 fatores: a) tempo (2 e 4 s); b) tamanho de partícula (30 µm - partículas de alumina revestida por sílica; 45 µm - partículas de alumina; 145 µm - partículas de alumina) e; c) pressão (1,5, 2,5 e 4,5 bar). O jateamento foi realizado seguindo um rigoroso protocolo. Para os resultados qualitativos e quantitativos a topografia da superfície foi analisada em um perfilômetro óptico digital (microscopia de interferência), utilizando diferentes parâmetros de rugosidade (Ra, Rq, Rz, X-crossing, Mr1, Mr2 e Sdr) e imagens 3D. A rugosidade da superfície também foi analisada após a aplicação de agentes de união (primer e silano) sobre a superfície cerâmica. ANOVA 1-fator revelou que os tratamentos de superfície (tempo, tamanho de partícula e pressão durante o jateamento) forneceram resultados com diferença estatisticamente significante para todos os parâmetros de rugosidade analisados. O teste de Tukey mostrou que as diferenças estatísticas entre os grupos foram diferentes para cada parâmetro. Na análise qualitativa os agentes de união reduziram a rugosidade, preenchendo os vales da superfície. Os protocolos realizados neste estudo mostram que o tempo, o tamanho da partícula e a pressão influenciaram no padrão topográfico e na amplitude da rugosidade da cerâmica Y-TZP.

Ethanol is the main biofuel produced and used today, representing almost 80 % of the total liquid biofuelsproduction and use worldwide. Sugarcane is now the second most used feedstock, behind corn, but it isthe one that presents the best performance in terms of GHG emissions reduction and land demand, and it is also a crop more adequate to developing countries production as it is cultivated already in more than 100 countries. The fast expansion of bioethanol in the recent past has brought to light several concerns about its sustainability and the discussions have been, mostly, in generic terms and with strong bias especially toward social aspects. It must be born in mind that biofuels are not equal and even the same biofuel, ethanol in our case, can present different sustainability characteristics depending on theproduction model and local conditions. By production mode we mean the feedstock agricultural pro uction system, the processing path and the socio-economic interfaces between ethanol producing enterprise and the local community. To bring the ethanol sustainability discussions to a more scientific and objective level it is interesting to present the alternatives of production models in an organized way and to have sustainability indicators from the three dimensions (economic, social and environmental) to evaluate objectiively each one. We propose basically three models: High Technology Model (large scale, state of the art technology, verticalized production and processing, maximum efficiency and lowest cost), Medium Technology Model (mixed sugarcane production – independent grower and mill production, scale compatible with agriculture production, balance between profits and social benefits), Social Model (small independent sugarcane producers and outgrowers, integration with food production and energy services for the local community, jobs); a fourth alternative, the Balanced Model, would be the one optimized as a function of the local conditions, driving forces, government policies, local culture and practices, land tenure profile and existing infrastructure, trying to take advantage of the best characteristics of the three basic models. A preliminary approach to evaluate the alternatives of production models is suggested and illustrated considering conditions observed for ethanol production from sugarcane in Latin America and Sub Saharan Africa.

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Sudden infant death syndrome (SIDS) is still the leading cause of death for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but in some of SIDS cases variants of genes associated with inherited cardiac conditions are found. In this study, an analysis of SCD-related genes was performed to determine the prevalence of rare pathogenic (P) or likely pathogenic (LP) variants that could provide an unambiguous explanation for the fatal event. A cohort of 76 SIDS cases underwent Next-Generation Sequencing (NGS) analysis with a custom panel of SCD-related genes. Rare variants were classified according to the guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the specifications of the ClinGen association. Post-mortem genetic testing identified 50 (65.8%) carriers of at least one variant in SCD genes. 104 rare genetic variants were found, 65.4% in genes encoding structural proteins. Only 4 out of 76 cases (5.3%) hosted at least a P or LP variant found in genes with structural or structural/arrhythmogenic functions (SLC22A5, SCN5A, MYL3and TTN). 99 variants were classified as of uncertain significance (VUS). The difference in the distribution of variants between gene groups by function was not statistically significant (chi square, p = 0,219). Despite this, most of the variants concerned structural genes that were supposed to have a close interaction with ion channels, thus providing an explanation for the arrhythmic event. Segregation analysis, reclassification of VUS variants and identification of new associated genes could clarify the implications of the current findings., (© 2024. The Author(s).)

Previous reports suggest that cord blood biomarkers could serve as a prognostic tool for conotruncal congenital heart defects (CHD). We aimed to describe the cord blood profile of different cardiovascular biomarkers in a prospective series of fetuses with tetralogy of Fallot (ToF) and D-transposition of great arteries (D-TGA) and to explore their correlation with fetal echocardiography and perinatal outcome., Methods: A prospective cohort study (2014-2019), including fetuses with isolated ToF and D-TGA and healthy controls, was conducted at two tertiary referral centers for CHD in Barcelona. Obstetric ultrasound and fetal echocardiography were performed in the third trimester and cord blood was obtained at delivery. Cord blood concentrations of N-terminal precursor of B-type natriuretic peptide, Troponin I, transforming growth factorβ (TGFβ), placental growth factor, and soluble fms-like tyrosine kinase-1 were determined., Results: Thirty-four fetuses with conotruncal-CHD (22 ToF and 12 D-TGA) and 36 controls were included. ToF-fetuses showed markedly increased cord blood TGFβ (24.9 ng/ml (15.6-45.3) vs. normal heart 15.7 ng/ml (7.2-24.3) vs. D-TGA 12.6 ng/ml (8.7-37.9); P  = 0.012). These results remained statistically significant even after adjusting for maternal body mass index, birth weight and mode of delivery. TGFß levels showed a negative correlation with the pulmonary valve diameter z -score at fetal echocardiography ( r  = -0.576, P  = 0.039). No other differences were found in the rest of cord blood biomarkers among the study populations. Likewise, no other significant correlations were identified between cardiovascular biomarkers, fetal echocardiography and perinatal outcome., Conclusions: This study newly describes increased cord blood TGFβ concentrations in ToF compared to D-TGA and normal fetuses. We also demonstrate that TGFβ levels correlate with the severity of right ventricle outflow obstruction. These novel findings open a window of research opportunities on new prognostic and potential preventive strategies., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Gómez, Nogué, Soveral, Guirado, Izquierdo, Pérez-Cruz, Masoller, Escobar, Sanchez-de-Toledo, Martínez-Crespo, Bennasar and Crispi.)

Risk of sudden cardiac death (SCD) increases with age, and several studies have examined the impact of different drugs on cardiovascular function. However, few studies have integrated epidemiological drug consumption data and genetic background in the context of cardiac death. We performed a retrospective population-based study in forensic sudden death cases from a 9-year period in Catalonia. The young cohort included 924 cases 18-50 years old, 566 of which had a cardiac cause of death. Complete autopsy, toxicological, and histopathological studies were performed. Molecular autopsy using next-generation sequencing was performed in nearly 400 cardiac cases. Cases related with fatal acute intoxication were excluded. Drug consumption prevalence was similar between forensic cases of cardiac and non-cardiac origin (62.5% versus 69.5%), with the exception of alcohol, which was more prevalent in the cardiac group than in the non-cardiac group (23.3% versus 17.1%). Individuals in the toxicology-positive group were carriers of more rare genetic variants and were significantly younger than the toxicology-negative group. Psychopharmacological drugs were identified in 22.3% of cardiac cases, and molecular autopsy identified an association between antiepileptic drugs or caffeine and pathogenic or likely pathogenic variants in arrhythmogenic genes. Specific substances could therefore play an essential role as triggers of SCD in genetically predisposed young people., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Unexpected cardiac deaths are a current challenge to healthcare systems. In adults, coronary artery disease and acquired cardiomyopathies are the most frequent causes of sudden cardiac death while in younger than 35 years old, the main cause is represented by non-ischemic diseases, usually inherited. Nowadays, around 10%-15% of unexpected deaths remain without a definite cause of decease after a complete autopsy, then classified as deaths potentially due to an inherited arrhythmia. Discrete abnormalities in some of the heart measures have been considered as potential predictors or risk factors for sudden cardiac death. However, role of non-benign genetic variants in these scattered heart alterations remains to be clarified, especially if variants are classified of ambiguous role. Clinicians usually only take into consideration pathogenic variants for decision-making. It is yet unclear what the role of VUS genetic variants in modifying the anatomical parameters of the heart. We hypothesize that some heart measures might be influenced by polygenic components as some variants may individually confer minor risk but may actually produce additive effects when combined with others. Our aim was to investigate whether carrying non-benign rare variants in genes related to inherited arrhythmias may contribute to scattered cardiac alterations in anatomical normal hearts. The study is composed by 761 samples collected from autopsies of SD suffered by adults from 18 to 50 years of age who occurred in Catalonia (Spain) in a 9-year period. Complete medico-legal autopsy was performed to determine the cause of death. Molecular autopsy was performed as part of our forensic protocol, including genes associated with inherited diseases.To evaluate the effect of genetic rare variants into hearts measures we performed a linear regression model and data were presented as regression. This study showed, for the first time, that rare variants, regardless of significance (pathogenic, probably pathogenic or uncertain significance), may contribute to interventricular septum width in the structurally normal heart. While the cohort is based on sudden death cases, further studies and case-control studies will be necessary to conclude that the genetic determinants of septal thickness contributes to sudden cardiac death. We conclude that non-benign rare variants contribute to modify scattered septum width in structural normal hearts, being a potential risk factor of arrhythmia in genetic harbors. These evidence support the current recommendation in forensic protocols of including histologic analysis of septum when inherited arrhythmogenic disease is suspicious cause of decease., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Fetal Heart Quantification (FetalHQ®) is a novel speckle tracking software that permits the study of global and regional ventricular shape and function from a 2D four-chamber-view loop. The 4D-Spatio Temporal Image Correlation (STIC) modality enables the offline analysis of optimized and perfectly aligned cardiac planes. We aimed to evaluate the feasibility and reproducibility of 4D-STIC speckle tracking echocardiography (STE) using FetalHQ® and to compare it to 2D STE. We conducted a prospective study including 31 low-risk singleton pregnancies between 20 and 40 weeks of gestation. Four-chamber view volumes and 2D clips were acquired with an apex pointing at 45° and with a frame rate higher than 60 Hz. Morphometric and functional echocardiography was performed by FetalHQ®. Intra- and interobserver reproducibility were evaluated by the intraclass correlation coefficient (ICC). Our results showed excellent reproducibility (ICC > 0.900) for morphometric evaluation (biventricular area, longitudinal and transverse diameters). Reproducibility was also good (ICC > 0.800) for functional evaluation (biventricular strain, Fractional Area Change, left ventricle volumes, ejection fraction and cardiac output). On the contrary, the study of the sphericity index and shortening fraction of the different ventricular segments showed lower reproducibility (ICC < 0.800). To conclude, 4D-STIC is feasible, reproducible and comparable to 2D echocardiography for the assessment of cardiac morphometry and function.

Objective: To construct nomograms for fetal cardiac, ventricular and atrial relative size and geometry parameters from 18 to 41 weeks' gestation using a low-risk population of singleton pregnancies., Methods: This was a prospective cohort study of 602 low-risk singleton pregnancies undergoing comprehensive fetal echocardiography, from 18 to 41 weeks of gestation, to assess fetal cardiac, atrial and ventricular relative size and sphericity, ventricular dominance, wall asymmetry and relative wall thickness. Intra- and interobserver measurement reproducibility was evaluated using intraclass correlation coefficients (ICC). In order to construct reference ranges across pregnancy, parametric regressions were tested to model each measurement against gestational age and estimated fetal weight. The measurements evaluated were: cardiothoracic ratio; atrial-to-heart area ratios; ventricular-to-heart area ratios; cardiac, ventricular and atrial sphericity indices; right-to-left basal and midventricular ratios; septal-to-free wall thickness ratios; and relative wall thickness., Results: Fetal cardiac, ventricular and atrial morphometry for assessing relative size and geometry could be successfully performed in > 95% of the population, with moderate-to-excellent interobserver reproducibility (ICC, 0.623-0.907) and good-to-excellent intraobserver reproducibility (ICC, 0.787-0.938). Cardiothoracic ratio and ventricular right-to-left ratio showed a modest increase throughout gestation. Atrial-to-heart and ventricular-to-heart area ratios, atrial sphericity indices and septal-to-free wall thickness ratios were constant with gestational age. Left and right ventricular basal sphericity indices showed a tendency to decrease at the end of gestation, while left and right midventricular sphericity indices tended to decrease in the second trimester. The cardiac sphericity index and left and right relative wall thickness showed a modest decrease with gestational age. Nomograms across gestation were constructed for all echocardiographic parameters described., Conclusions: The assessment of cardiac, ventricular and atrial relative size and geometry is feasible and reproducible in the fetus. We provide standardized reference ranges for these parameters throughout gestation, enabling the accurate assessment of cardiac remodeling patterns during fetal life. © 2020 International Society of Ultrasound in Obstetrics and Gynecology., (© 2020 International Society of Ultrasound in Obstetrics and Gynecology.)

Objectives: Fetal cardiac function can be evaluated using a variety of parameters. Among these, cardiac cycle time-related parameters, such as filling time fraction (FTF) and ejection time fraction (ETF), are promising but rarely studied. We aimed to report the feasibility and reproducibility of fetal FTF and ETF measurements using pulsed-wave Doppler, to provide reference ranges for fetal FTF and ETF, after evaluating their relationship with heart rate (HR), gestational age (GA) and estimated fetal weight (EFW), and to evaluate their potential clinical utility in selected fetal conditions., Methods: This study included a low-risk prospective cohort of singleton pregnancies and a high-risk population of fetuses with severe twin-twin transfusion syndrome (TTTS), aortic stenosis (AoS) or aortic coarctation (CoA), from 18 to 41 weeks' gestation. Left ventricular (LV) and right ventricular inflow and outflow pulsed-wave Doppler signals were analyzed, using valve clicks as landmarks. FTF was calculated as: (filling time/cycle time) × 100. ETF was calculated as: (ejection time/cycle time) × 100. Intraclass correlation coefficients (ICC) were used to evaluate the intra- and interobserver reproducibility of FTF and ETF measurements in low-risk fetuses. The relationships of FTF and ETF with HR, GA and EFW were evaluated using multivariate regression analysis. Reference ranges for FTF and ETF were then constructed using the low-risk population. Z-scores of FTF and ETF in the high-risk fetuses were calculated and analyzed., Results: In total, 602 low-risk singleton pregnancies and 54 high-risk fetuses (nine pairs of monochorionic twins with severe TTTS, 16 fetuses with AoS and 20 fetuses with CoA) were included. Adequate Doppler traces for FTF and ETF could be obtained in 95% of low-risk cases. Intraobserver reproducibility was good to excellent (ICC, 0.831-0.905) and interobserver reproducibility was good (ICC, 0.801-0.837) for measurements of all timing parameters analyzed. Multivariate analysis of FTF and ETF in relation to HR, GA and EFW in low-risk fetuses identified HR as the only variable predictive of FTF, while ETF was dependent on both HR and GA. FTF increased with decreasing HR in low-risk fetuses, while ETF showed the opposite behavior, decreasing with decreasing HR. Most recipient twins with severe TTTS showed reduced FTF and preserved ETF. AoS was associated with decreased FTF and increased ETF in the LV, with seemingly different patterns associated with univentricular vs biventricular postnatal outcome. The majority of fetuses with CoA had FTF and ETF within the normal range in both ventricles., Conclusions: Measurement of FTF and ETF using pulsed-wave Doppler is feasible and reproducible in the fetus. The presented reference ranges account for associations of FTF with HR and of ETF with HR and GA. These time fractions are potentially useful for clinical monitoring of cardiac function in severe TTTS, AoS and other fetal conditions overloading the heart. © 2020 International Society of Ultrasound in Obstetrics and Gynecology., (© 2020 International Society of Ultrasound in Obstetrics and Gynecology.)

Objective: To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection., Methods: This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the λ-μ-σ (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses., Results: The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%)., Conclusions: The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%., (© 2019 S. Karger AG, Basel.)

Age-at-death estimation is one of the main goals in forensic identification, being an essential parameter to determine the biological profile, narrowing the possibility of identification in cases involving missing persons and unidentified bodies. The study of dental tissues has been long considered as a proper tool for age estimation with several age estimation methods based on them. Dental age estimation methods can be divided into three categories: tooth formation and development, post-formation changes, and histological changes. While tooth formation and growth changes are important for fetal and infant consideration, when the end of dental and skeletal growth is achieved, post-formation or biochemical changes can be applied. Lamendin et al. in J Forensic Sci 37:1373-1379, (1992) developed an adult age estimation method based on root transparency and periodontal recession. The regression formula demonstrated its accuracy of use for 40 to 70-year-old individuals. Later on, Prince and Ubelaker in J Forensic Sci 47(1):107-116, (2002) evaluated the effects of ancestry and sex and incorporated root height into the equation, developing four new regression formulas for males and females of African and European ancestry. Even though root transparency is a key element in the method, the conditions for measuring this element have not been established. The aim of the present study is to set the light conditions measured in lumens that offer greater accuracy when applying the Lamendin et al. method modified by Prince and Ubelaker. The results must be also taken into account in the application of other age estimation methodologies using root transparency to estimate age-at-death.