Synergistic effects of arbuscular mycorrhizal fungi and plant growth-promoting bacteria benefit maize growth under increasing soil salinity.

Salt-affected soils are a major problem worldwide for crop production. Bioinocula such as plant growth-promoting bacteria (PGPB) and arbuscular mycorrhizal fungi (AMF) can help plants to thrive in these areas but interactions between them and with soil conditions can modulate the effects on their host. To test potential synergistic effects of bioinoculants with intrinsically different functional relationships with their host in buffering the effect of saline stress, maize plants were grown under increasing soil salinity (0-5 g NaCl kg--1 soil) and inoculated with two PGPB strains (Pseudomonas reactans EDP28, and Pantoea alli ZS 3-6), one AMF (Rhizoglomus irregulare), and with the combination of both. We then modelled biomass, ion and nutrient content in maize plants in response to increasing salt concentration and microbial inoculant treatments using generalized linear models. The impacts of the different treatments on the rhizosphere bacterial communities were also analyzed. Microbial inoculants tended to mitigate ion imbalances in plants across the gradient of NaCl, promoting maize growth and nutritional status. These effects were mostly prominent in the treatments comprising the dual inoculation (AMF and PGPB), occurring throughout the gradient of salinity in the soil. The composition of bacterial communities of the soil was not affected by microbial treatments and were mainly driven by salt exposure. The tested bioinocula are most efficient for maize growth and health when co-inoculated, increasing the content of K+ accompanied by an effective decrease of Na+ in plant tissues. Moreover, synergistic effects potentially contribute to expanding crop production to otherwise unproductive soils. Results suggest that the combination of AMF and PGPB leads to interactions that may have a potential role in alleviating the stress and improve crop productivity in salt-affected soils.

Predictors of hospital discharge in cancer patients with pericardial effusion undergoing surgical pericardial drainage.

INTRODUCTION: Pericardial effusion (PE) is a complication of late-stage cancer and some patients never leave the hospital despite drainage. The main objective of this study was to identify predictors of hospital discharge in cancer patients with (PE) who underwent pericardial drainage. We also report the occurrence of paradoxical hemodynamic instability (PHI). METHODS AND MATERIALS: A retrospective study was carried out in a cancer center. Patients included had malignancy, PE, and underwent surgical drainage. An institutional database was reviewed for preoperative variables, analyzed for hospital discharge. RESULTS: One-hundred and thirteen patients were included, with a mean age of 54 years old (SD 14.3). Sixty-three patients were discharged from hospital (55.7%). Age (odds ratio [OR], 1.04; P = 0.004), higher ECOG status (OR, 0.63; P = 0.019), recent chemotherapy (OR, 3.40; P = 0.007), and renal failure (OR, 0.14; P = 0.002) were associated with hospital discharge. Median survival was 43 days (IQ 25%-75%; 15-162). Patients with pulmonary embolism or neutropenia were at greater risk of developing PHI (OR, 10.11; P = 0.009 and OR, 12.13; P = 0.015, respectively). CONCLUSION: Almost half of the patients never left the hospital. Patients with no chemotherapy within 45 days of procedure, patients with renal failure and higher ECOG status are at greater risk of not getting discharged. PHI remains a serious condition with high mortality.

Analysis of Quality of Life after Pleurodesis in Patients with Malignant Pleural Effusion.

BACKGROUND: Malignant pleural effusion is one of the most important complications of metastatic cancer, and recurrent pleural effusions do not only have an impact on survival but also cause a huge repercussion on a patient's quality of life. OBJECTIVES: The main objective was to describe quality of life status before and after pleurodesis in patients with malignant pleural effusion. Secondary, we aimed to find predictors of quality of life improvement in such a population. METHODS: Retrospective analysis of a database collected prospectively. We included patients who underwent pleurodesis from June 2004 to July 2014. Quality of life was evaluated through the WHOQOL-BREF questionnaire and applied before and 30 days after pleurodesis. We used a paired t test and the Wilcoxon rank-sum to compare pre-/post-pleurodesis results, Kaplan-Meier curves for survival analysis, and multiple linear regressions to find predictors of quality of life improvement. RESULTS: 183 patients were included (145 were women). Mean age was 58.3 ± 12.3 years, the most numerous primary tumor was breast cancer. Median survival time was 9 months. Dyspnea was the most prevalent symptom. Baseline results showed that patients had low quality of life scores. After pleurodesis, there was a significant improvement in respiratory symptoms, physical domain, and general health. Linear regression showed an improvement in physical domain with the sclerosing agent nitrate (p = 0.005). Male gender (p = 0.002) and a higher lymphocyte count (p = 0.01) were inversely associated with improvement in physical domain. CONCLUSIONS: Pleurodesis improved symptoms and quality of life in patients with malignant pleural effusion. Gender, lymphocyte count, and sclerosing agent might interfere with quality of life improvement.

Zika Virus Infection in Pregnancy: Maternal, Fetal, and Neonatal Considerations.

An infection with the Zika virus (ZIKV) is usually mild, with nonspecific symptoms and most often asymptomatic. However, because of its causal relationship with severe congenital malformations, the ZIKV epidemic became an imperative for mobilization, renewed strategies for vector control, and biomedical research. A congenital Zika syndrome (CZS) has been characterized with 5 distinctive features that focus on brain development abnormalities (including microcephaly and brain calcifications), retinal manifestations, and defects on extremities including congenital contractures and hypertonia. The CZS could be just "the tip of the iceberg", pending the documentation of a spectrum of disease that could manifest later in life, from mild dysfunction to severe disease. It will be a matter of time for neurodevelopmental abnormalities, learning disabilities, and other unknown but yet-to-be-described outcomes to be associated with intrauterine ZIKV infection. In addition, ZIKV infection during pregnancy has been associated with other adverse outcomes. Reports mostly include ZIKV-affected pregnancies, and it will be difficult to clearly establish causality without appropriate control groups. We are summarizing some of the known or reported consequences of such infection during pregnancy. Women of reproductive age and particularly pregnant women are the most vulnerable to the adverse consequences of the ZIKV epidemic. Vector control programs need to be expanded to curtail new infections. Research is needed to develop safe and effective treatments, a preventive or therapeutic vaccine, and specific and sensitive tests and to diagnose and identify correlates of long-term immunity. Vaccines and treatments should be safe to be used in pregnancy. To do nothing would allow thousands of pregnant women to expose their fetuses to an infection that causes birth defects and other problems. Prenatal diagnosis technology development is necessary to be able to predict or diagnose adverse fetal outcomes related to ZIKV. Moreover, these tests should be used in a manner similar to the testing/screening method for neural tube defects and common chromosomal anomalies during prenatal care.

Leaf-level photosynthetic capacity in lowland Amazonian and high-elevation Andean tropical moist forests of Peru.

We examined whether variations in photosynthetic capacity are linked to variations in the environment and/or associated leaf traits for tropical moist forests (TMFs) in the Andes/western Amazon regions of Peru. We compared photosynthetic capacity (maximal rate of carboxylation of Rubisco (Vcmax ), and the maximum rate of electron transport (Jmax )), leaf mass, nitrogen (N) and phosphorus (P) per unit leaf area (Ma , Na and Pa , respectively), and chlorophyll from 210 species at 18 field sites along a 3300-m elevation gradient. Western blots were used to quantify the abundance of the CO2 -fixing enzyme Rubisco. Area- and N-based rates of photosynthetic capacity at 25°C were higher in upland than lowland TMFs, underpinned by greater investment of N in photosynthesis in high-elevation trees. Soil [P] and leaf Pa were key explanatory factors for models of area-based Vcmax and Jmax but did not account for variations in photosynthetic N-use efficiency. At any given Na and Pa , the fraction of N allocated to photosynthesis was higher in upland than lowland species. For a small subset of lowland TMF trees examined, a substantial fraction of Rubisco was inactive. These results highlight the importance of soil- and leaf-P in defining the photosynthetic capacity of TMFs, with variations in N allocation and Rubisco activation state further influencing photosynthetic rates and N-use efficiency of these critically important forests.

Spectroscopic and Microscopic Study of Peroxyformic Pulping of Agave Waste.

The peroxyformic process is based on the action of a carboxylic acid (mainly formic acid) and the corresponding peroxyacid. The influences of processing time (60-180 min), formic acid concentration (80-95%), temperature (60-80°C), and hydrogen peroxide concentration (2-4%) on peroxyformic pulping of agave leaves were studied by surface response methodology using a face-centered factorial design. Empirical models were obtained for the prediction of yield, κ number (KN) and pulp viscosity as functions of the aforementioned variables. Mathematical optimization enabled us to select a set of operational variables that produced the best fractionation of the material with the following results: pulp yield (26.9%), KN (3.6), and pulp viscosity (777 mL/g). Furthermore, this work allowed the description and evaluation of changes to the agave fibers during the fractionation process using different microscopic and spectroscopic techniques, and provided a comprehensive and qualitative view of the phenomena occurring in the delignification of agave fibers. The use of confocal and scanning electron microscopy provided a detailed understanding of the microstructural changes to the lignin and cellulose in the fibers throughout the process, whereas Raman spectroscopy and X-ray diffraction analysis indicated that cellulose in the pulp after treatment was mainly of type I.

Rapid Resolution of Polyhydramnios Foretells Circulatory Collapse for the Donor Twin in Feto-Fetal Transfusion Syndrome.

Feto-fetal transfusion syndrome is a pathological process unique to diamniotic monochorionic pregnancies. It is the consequence of an unbalanced fetal blood flow through communicating vessels within a shared placenta. When it occurs, a polyuric, hypervolemic recipient twin co-exists with a hypovolemic oliguric donor. The presence of polyhydramnios or oligohydramnios is considered a poor prognostic indicator, whereas normal amniotic fluid volumes indicate a lack of clinically significant twintwin transfusion. In addition, the spontaneous normalization of amniotic fluid volume is usually seen as a favorable prognostic sign. Here, however, we present a case of feto-fetal transfusion in a 31 year-old primigravida at 19 week, in which the spontaneous normalization of amniotic fluid volume in the recipient twin preceded the death of the donor.

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.

OBJECTIVES: The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical alternatives such as Prenatal BACs-on-Beads(TM) (PNBoBs(TM) ) have thus been applied. The aim of this study was to provide the frequencies of the submicroscopic defects detectable by PNBoBs(TM) under different prenatal indications. METHODS: A total of 9648 prenatal samples were prospectively analyzed by karyotyping plus PNBoBs(TM) and classified by prenatal indication. The frequencies of the genomic defects and their 95%CIs were calculated for each indication. RESULTS: The overall incidence of cryptic imbalances was 0.7%. The majority involved the DiGeorge syndrome critical region (DGS). The additional diagnostic yield of PNBoBs(TM) in the population with a low a priori risk was 1/298. The prevalences of DGS microdeletion and microduplication in the low-risk population were 1/992 and 1/850, respectively. CONCLUSIONS: The constant a priori risk for common pathogenic cryptic imbalances detected by this technology is estimated to be ~0.3%. A prevalence higher than that previously estimated was found for the 22q11.2 microdeletion. Their frequencies were independent of maternal age. These data have implications for cell-free DNA screening tests design and justify prenatal screening for 22q11 deletion, as early recognition of DGS improves its prognosis.

Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.

Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by severe intellectual disability, epilepsy, and cerebral palsy. This duplication involves 22 genes; PAK2, DLG1, BDH1, and FBXO45 are implicated in neuronal development and synaptic function and could play an important role in this syndrome. We propose considering genetic studies, particularly array comparative genomic hybridization, in patients with epilepsy and/or cerebral palsy of unknown etiology when dysmorphic features are present.

Evaluation of agave fiber delignification by means of microscopy techniques and image analysis.

Recently, the use of different types of natural fibers to produce paper and textiles from agave plants has been proposed. Agave atrovirens can be a good source of cellulose and lignin; nevertheless, the microstructural changes that happen during delignification have scarcely been studied. The aim of this work was to study the microstructural changes that occur during the delignification of agave fibers by means of microscopy techniques and image analysis. The fibers of A. atrovirens were obtained from leaves using convective drying, milling, and sieving. Fibers were processed using the Acetosolv pulping method at different concentrations of acetic acid; increasing acid concentration promoted higher levels of delignification, structural damage, and the breakdown of fiber clumps. Delignification followed by spectrometric analysis and microstructural studies were carried out by light, confocal laser scanning and scanning electron microscopy and showed that the delignification process follows three stages: initial, bulk, and residual. Microscopy techniques and image analysis were efficient tools for microstructural characterization during delignification of agave fibers, allowing quantitative evaluation of the process and the development of linear prediction models. The data obtained integrated numerical and microstructural information that could be valuable for the study of pulping of lignocellulosic materials.

The association of visceral pleural invasion with skip N2 metastasis on clinical stage IA NSCLC.

BACKGROUND: Lung lymphatic drainage occurs mainly through a peribronchial path, but it is hypothesized that visceral pleural invasion could alter this path. This study aims to investigate the association between visceral pleural invasion, node upstaging, and N2 skip metastasis and the impact on survival in a population of patients with non-small cell lung cancer of 3 cm or smaller. METHODS: We retrospectively queried our institutional database of lung cancer resection for all patients with clinical stage IA NSCLC between June 2009 and June 2022. We collected baseline characteristics and clinical and pathological staging data. Patients were classified into two groups: The non-VPI group with negative visceral pleural invasion and the VPI group with positive. The primary results analyzed were the occurrence of nodal upstaging, skip N2 metastasis and recurrence. RESULTS: There were 320 patients analyzed. 61.3 % were women; the median age was 65.4 years. The pleural invasion occurred in 44 patients (13.7 %). VPI group had larger nodules (2.3 vs. 1.7 cm; p < 0.0001), higher 18F-FDG uptake (7.4 vs. 3.4; p < 0.0001), and lymph-vascular invasion (35.7 % vs. 13.5 %, p = 0.001). Also, the VPI group had more nodal disease (25.6 % vs. 8.7 %; p = 0.001) and skip N2 metastasis (9.3 % vs. 1.8 %; p = 0.006). VPI was a statistically independent factor for skip N2 metastasis. Recurrence occurred in 17.2 % of the population. 5-year disease-free and overall survival were worse in the VPI group. CONCLUSIONS: The visceral pleural invasion was an independent factor associated with N2 skip metastasis and had worse disease-free and overall survival.

Clinical outcomes and mortality in patients with atrial fibrillation and recently diagnosed lung cancer in oncology outpatient settings.

INTRODUCTION: Our aim was to investigate the prevalence of atrial fibrillation (AF) and recently diagnosed lung cancer in the outpatient oncology clinic and to describe the clinical profile, management and outcomes of this population. METHODS: Among 6984 patients visited at the outpatient oncology clinics attending lung cancer patients in five university hospitals from 2017 to 2019, all consecutive subjects with recently diagnosed (<1 year) disease and AF were retrospectively selected and events in follow up were registered. RESULTS: A total of 269 patients (3.9 % of all attended, 71 ± 8 years, 91 % male) were included. Charlson, CHA2DS2-VASc and HAS-BLED indexes were 6.7 ± 2.9, 2.9 ± 1.5 y 2.5 ± 1.2, respectively. Tumour stage was I, II, III and IV in 11 %, 11 %, 33 % and 45 % of them, respectively. Anticoagulants were prescribed to 226 patients (84 %): direct anticoagulants (n = 99;44 %), low molecular weight heparins (n = 69;30 %) and vitamin K antagonists (n = 58;26 %). After 46 months of maximum follow-up, 186 patients died (69 %). Cumulative incidences of events at 3 years were 3.3 ± 1.3 % for stroke/systemic embolism (n = 7); 8.9 ± 2.2 % for thrombotic events (n = 18); 9.9 ± 2.6 % for major bleeding (n = 16), and 15.9 ± 3,0 % for cardiovascular events (n = 33). In patients with early stages of cancer (I-II), 2-year mortality was significantly higher in those with cardiovascular events or major bleeding (85 % vs 25 %, p = 0.01). CONCLUSION: Nearly 4 % or all outpatients in the oncology clinic attending lung cancer present recently diagnosed disease and AF. Major bleeding and cardiovascular event rates are high in this population, with an impact on mortality in early stages of cancer.

Thyroid abnormalities in patients with Hodgkin lymphoma: The importance of close surveillance.

INTRODUCTION: Survival in paediatric patients with Hodgkin lymphoma (HL) has increased over the last decades. However, these patients are at increased risk of developing late thyroid sequelae due to the treatment with irradiation and alkylating agents. METHODS: We conducted an observational and retrospective study in patients with a diagnosis of HL between 2007 and 2022, in a hospital that is a paediatric oncology reference centre, through the review of electronic health records. We collected data on demographic (age, sex), clinical, radiological and histopathological variables, the dosage of alkylating agents and radiotherapy (RT) and on thyroid disorders using Microsoft Excel. The data analysis was conducted with SPSS version 17, using the Fisher exact test for qualitative data, a nonparametric test for quantitative data and Kaplan-Meier curves. RESULTS: Sixty patients received a diagnosis of HL from 2007 to 2022. The median duration of follow-up was 78.5 months. There were 4 detected cases of hypothyroidism, 5 of thyroid nodules and 1 of subclinical hyperthyroidism. Treatment with RT was significantly associated with the development of hypothyroidism (P= .026), thyroid nodules (P= .01) and thyroid disease overall (P= .003). We estimated that the risk of thyroid disease increased 8-fold with each additional Grey received (hazard ratio, 1.081; 95% CI, 1.014-1.152; P= .017). CONCLUSION: Hodgkin lymphoma patients treated with RT are at increased risk of late thyroid disorders, mainly hypothyroidism and malignancy. This risk is greater the higher the RT dosage and the longer the follow-up. We did not find evidence of an association between the use of alkylating agents and an increase in the risk of thyroid disease.

The S-REAL study: Spanish real-world data on unresectable stage III NSCLC patients treated with durvalumab after chemoradiotherapy.

OBJECTIVES: The S-REAL study aimed to assess the effectiveness of durvalumab as consolidation therapy after definitive chemoradiotherapy (CRT) in a real-world cohort of patients with locally advanced, unresectable stage III non-small cell lung cancer (LA-NSCLC) included in a Spanish early access program (EAP). METHODS: In this multicentre, observational, retrospective study we analysed data from patients treated in 39 Spanish hospitals, who started intravenous durvalumab (10 mg/kg every 2 weeks) between September 2017 and December 2018. The primary endpoint was progression-free survival (PFS). Secondary endpoints included patient characterization and adverse events of special interest (AESI). RESULTS: A total of 244 patients were followed up for a median of 21.9 months [range 1.2-34.7]. Median duration of durvalumab was 45.5 weeks (11.4 months) [0-145]. Median PFS was 16.7 months (95% CI 12.2-25). No remarkable differences in PFS were observed between patients with programmed cell death-ligand 1 (PD-L1) expression ≥ 1% or < 1% (16.7 versus 15.6 months, respectively). However, PFS was higher in patients who had received prior concurrent CRT (cCRT) versus sequential CRT (sCRT) (20.6 versus 9.4 months). AESIs leading to durvalumab discontinuation were registered in 11.1% of patients. CONCLUSIONS: These results are in line with prior published evidence and confirm the benefits of durvalumab in the treatment of LA-NSCLC patients in a real-world setting. We also observed a lower incidence of important treatment-associated toxicities, such as pneumonitis, compared with the pivotal phase III PACIFIC clinical study.

Spatially Preserved Multi-Region Transcriptomic Subtyping and Biomarkers of Chemoimmunotherapy Outcome in Extensive-Stage Small Cell Lung Cancer.

PURPOSE: Transcriptomic subtyping holds promise for personalized therapy in extensive-stage small cell lung cancer (ES-SCLC). In this study, we aimed to assess intratumoral transcriptomic subtype diversity and to identify biomarkers of long-term chemoimmunotherapy benefit in human ES-SCLC. EXPERIMENTAL DESIGN: We analyzed tumor samples from 58 patients with ES-SCLC enrolled in two multicenter single-arm phase IIIb studies evaluating frontline chemoimmunotherapy in Spain: n = 32 from the IMfirst trial and n = 26 from the CANTABRICO trial. We used the GeoMx Digital Spatial Profiler system to perform multi-region transcriptomic analysis. For subtype classification, we performed hierarchical clustering using the relative expression of ASCL1 (SCLC-A), NEUROD1 (SCLC-N), POU2F3 (SCLC-P), and YAP1 (SCLC-Y). RESULTS: Subtype distribution was found to be similar between bothcohorts, except for SCLC-P, which was not identified in the CANTABRICO_DSP cohort. A total of 44% of the patients in both cohorts had tumors with multiple coexisting transcriptional subtypes. Transcriptional subtypes or subtype heterogeneity was not associated with outcomes. Most potential targets did not show subtype-specific expression. Consistently in both cohorts, tumors from patients with long-term benefit (time to progression ≥12 months) contained an IFNγ-dominated mRNA profile, including enhanced capacity for antigen presentation. Hypoxia and glycolytic pathways were associated with resistance to chemoimmunotherapy. CONCLUSIONS: This work suggests that intratumoral heterogeneity, inconsistent association with outcome, and unclear subtype-specific target expression might be significant challenges for subtype-based precision oncology in SCLC. Preexisting IFNγ-driven immunity and mitochondrial metabolism seem to be correlates of long-term efficacy in this study, although the absence of a chemotherapy control arm precludes concluding that these are predictive features specific for immunotherapy.

Pregnancy after liver transplantation.

UNLABELLED: Several reports on liver transplantation and pregnancy have been published recently. Uncertainty remains regarding appropriate management of these patients. METHODS: The study included pregnant women of all ages with liver transplant referred to our center. A total of eight patients were identified and qualified for our study. The following variables were obtained: age, date of liver transplantation, date of conception, reasons for liver transplantation, type of immunosuppressive therapy, complications during pregnancy, gestational age at birth, birth weight, mode of delivery, the interval of time from liver transplantation to conception and co-morbidity. RESULTS: The mean age of our population was 24 years. Four of the eight were nulliparous. The mean time interval from transplantation to pregnancy was eight years. The indication for liver transplantation in 75% of patients was autoimmune hepatitis. Two cases were associated with viral hepatitis. Combination therapy with more than one immunosuppressant was given to 75% of patients. The most prevalent complication was pyelonephritis in (38%), followed by gestational thrombocytopenia and preeclampsia. Most deliveries (75%) were vaginal and at term (88%). The median for gestational age was 39 weeks. The median birth weight was 2,898 grams. CONCLUSIONS: This study proves that successful and uneventful pregnancies are likely in liver transplant patients under optimal obstetric management.

Effectiveness and safety of lidocaine in the induction of fetal cardiac asystole for second trimester pregnany termination.

UNLABELLED: The presence of a major congenital anomaly is a frequent indication for late termination of pregnancy. The possibility of the fetus being born alive is significant, thus, feticide prior to the procedure is desirable. The purpose of this study was to assess the safety and efficacy of lidocaine 1% as a feticidal agent prior to second trimester termination of pregnancy. METHODS: We conducted a chart review of all patients who underwent a second trimester termination of pregnancy at our institution between March 2009 and June 2012. We collected data regarding the indication for the termination procedure, gestational age, site of lidocaine injection, dosage of lidocaine, need for additional to produce asystole, and maternal complications. RESULTS: We identified 54 patients who underwent second trimester termination following injection with lidocaine. Forty-six cases (85%) were done for major fetal anomalies and 8 cases (15%) were for maternal indications. The mean gestational age was 22 weeks (SD = 2.3). The mean volume of lidocaine 1% injected was 10.1 mL (range: 5-40 mL). Asystole was achieved in 1-2 minutes following intracardiac administration. Intracardiac injection was successful in 45/46 (98%) of cases. Intrathoracic administration was successful in 5/6 (83%). This approach was chosen when cardiac puncture was not effective. Two fetuses receiving an initial intraabdominal or umbilical vein injection required additional doses of intracardiac lidocaine to produce asystole. There were no maternal complications. CONCLUSIONS: Intracardiac administration of lidocaine is an effective method to induce cardiac asystole for second trimester pregnancy termination. Extra-cardiac injection, however, is less effective.

Prenatal diagnosis of a vein of Galen aneurysmal malformation using color Doppler ultrasound: a case report.

Vein of Galen aneurysms are a rare and complex vascular malformation of the brain. Their prevalence is somewhat less than 1 in 25,000 deliveries. Common associated anomalies include ventriculomegaly, cardiomegaly secondary to high cardiac output and enlarged neck vessels, the later being an almost pathognomonic sign. The prognosis for these neonates is poor with a mortality rate of 50% and a high risk for neurologic sequelae. Color flow Doppler studies of the fetal brain vasculature are a reliable method for diagnostic purposes. In this paper we present a case of a vein of Galen malformation diagnosed prenatally at 33 weeks of gestation using both 2D and color Doppler ultrasound modalities.

Chorioangioma: an uncommon cause of hydramnios and consequent preterm labor in second trimester of pregnancy.

Placental chorioangiomas are relatively common benign placental tumors occurring with an incidence of approximately 1% of histologically studied placentas. However, they show clinical manifestations in very rare pregnancies usually at a median gestational age of 28 weeks. Our report presents an interesting and rare case of severe hydramnios with consequent preterm labor and delivery in the second trimester leading to neonatal death due to placental chorioangioma. An earlier diagnosis could have led to closer monitoring and prevention of the development of severe hydramnios with resultant preterm labor.

[Introduction to filtering, analysis and curation of genetic variants in patients with intellectual disability]. / Introducción al filtrado, análisis y curación de variantes genéticas en pacientes con discapacidad intelectual.

Currently, Whole exome sequencing (WES) using NGS (Next-generation sequencing) technology is one of the most requested genetic studies within the approach of patients with intellectual disability with or without other anomalies. As with other procedures and clinical studies, it is convenient for prescribing physicians to have a clear understanding of the scope and limitations of the use of WES, the analysis process of the genetic variants identified, as well as aspects to be evaluated regarding quality and structure of the reports of the NGS studies, with the aim that they can better interpret the results of a study, evaluate its quality, and propose in the best way the correlation of the same with the observed phenotype.

Actualmente la secuenciación del exoma completo (WES; Whole-exome sequencing) mediante la técnica NGS (Next-generation sequencing) es uno de los estudios genéticos más solicitados dentro del abordaje de pacientes con Discapacidad Intelectual con o sin otras anomalías. Al igual que con otros procedimientos y estudios clínicos, es conveniente que los médicos prescriptores tengan una comprensión clara de los alcances y limitaciones del uso de WES, del proceso de análisis de las variantes genéticas identificadas, así como de aspectos a evaluar acerca de la calidad y estructura de los informes de los estudios de NGS, con el objetivo de que puedan interpretar mejor los resultados de un estudio y plantear de la mejor manera la correlación de los mismos con la clínica observada.