The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.

Uptake pattern of [68Ga]Ga-DOTA-NOC in tissues: implications for inflammatory diseases.

BACKGROUND: [68Ga]Ga-DOTA-NOC binds to somatostatin receptor (SSTR) subtypes 2 and 5, also expressed on lymphocytes and macrophages, but no information is available about uptake in tissues that might be affected by a chronic inflammatory process. Our aim was to obtain normal reference values for: [68Ga]Ga-DOTA-NOC uptake in tissues prone to chronic inflammation. METHODS: Retrospective study in 81 patients who performed the scan for a suspicion of neuroendocrine tumor (NET). We analyzed major joints, salivary glands, thyroid, aortic wall from images acquired after injection of 173.9±1 Mbq of: [68Ga]Ga-DOTA-NOC. We calculated the SUVmax and SUVtarget/SUVgluteus ratio or SUVtarget/SUVaorta ratio. Data are reported as mean±2 or ±3 standard deviations (SD). RESULTS: SUVmax values appeared more reliable than other ratios. In thyroid we found a mean SUVmax of 1.36±0.45, with no values >3SD; in parotid glands 0.98±0.40, with 2 values >3SD; in submandibular glands 0.99±0.37, with 2 values >3SD; in aortic arch 1.71±0.50, with 1 value >3SD; in thoracic aorta 2.03±0.52, with 1 value >3SD; in abdominal aorta 2.19±0.49, with no value >3SD; in shoulders 0.92±0.31 and in hips 0.87±0.34, with 2 and 4 values >3SD, respectively. These 12 values with SUVmax >3SD, belong to 5 patients, 3 of which had signs of xerostomia and/or arthritis. A statistically significant correlation was observed between SUVmax and age in all examined tissues but in the aorta. CONCLUSIONS: Tissues in which lymphocytic infiltration may occur show that SUVmax is tissue-dependent. Within tissue variability, an SUVmax greater than the mean +3SD is rarely found amongst patients without a symptomatic chronic inflammatory process but, when found, may highlight a chronic inflammatory condition.

Malignancy rates of B3-lesions in breast magnetic resonance imaging - do all lesions have to be excised?

BACKGROUND: Approximately 10% of all MRI-guided vacuum-assisted breast biopsies (MR-VAB) are histologically classified as B3 lesions. In most of these cases surgical excision is recommended. The aim of our study was to evaluate the malignancy rates of different B3 lesions which are visible on MRI to allow a lesion-adapted recommendation of further procedure. METHODS: Retrospective analysis of 572 consecutive MR-VAB was performed. Inclusion criteria were a representative (=successful) MR-VAB, histologic diagnosis of a B3 lesion and either the existence of a definite histology after surgical excision or proof of stability or regression of the lesion on follow-up MRI. Malignancy rates were evaluated for different histologies of B3 lesions. Lesion size and lesion morphology (mass/non-mass enhancement) on MRI were correlated with malignancy. RESULTS: Of all MR-VAB 43 lesions fulfilled the inclusion criteria. The malignancy rate of those B3 lesions was 23.3% (10/43). The highest malignancy rate was found in atypical ductal hyperplasia (ADH) lesions (50.0%; 4/8), 33.3% (2/6) in flat epithelial atypia (FEA), 28.6% (2/7) in lobular intraepithelial neoplasia (LIN) and 12.5% (2/16) in papillary lesions (PL). All 6 complex sclerosing lesions were benign. Mass findings were significantly more frequently malignant (31.3%, 10/32; p < 0.05) than non-mass findings (0/11). Small lesions measuring 5-10 mm were most often malignant (35.0%; 7/20). All large lesions (> 20 mm) were not malignant (0/10). Intermediate sized lesions (11-20 mm) turned out to be malignant in 23.1% (3/13). CONCLUSIONS: The malignancy rate of B3 lesions which were diagnosed after MR-VAB was 23.3%. ADH, FEA and LIN showed considerable malignancy rates (50%, 33% and 29%) and should therefore undergo surgical excision. None of the cases, which were diagnosed as radial scars, non-mass enhancement or larger lesions (> 20 mm) were malignant. Here, a follow-up MRI seems to be advisable to avoid unnecessary operations. TRIAL REGISTRATION: Retrospective study design, waived by the IRB.

Background parenchymal enhancement in breast MRI before and after neoadjuvant chemotherapy: correlation with tumour response.

OBJECTIVES: To correlate the decrease in background parenchymal enhancement (BPE) and tumour response measured with MRI in breast cancer patients treated with neoadjuvant chemotherapy (NAC). METHODS: One hundred and forty-six MRI examinations of 73 patients with 80 biopsy-proven breast cancers who underwent breast MRI before and after NAC were retrospectively analysed. All images were reviewed by two blinded readers, who classified BPE into categories (BEC; 1 = minimal, 2 = mild, 3 = moderate, 4 = marked) before and after NAC. Histopathological and morphological tumour responses were analysed and compared. RESULTS: The distribution of BEC 1/2/3/4 was 25/46/18/11 % before and 78/20/2/0 % after NAC. On average, BPE decreased by 0.87 BEC. Cohen's kappa showed substantial agreement (k = 0.73-0.77) before and moderate agreement (k = 0.43-0.60) after NAC and moderate agreement (k = 0.62-0.60) concerning the change in BEC. Correlating the change in BPE with tumour response, the average decrease in BEC was 1.3 in cases of complete remission, 0.83 in cases with partial response, 0.85 in cases with stable disease and 0.40 in cases with progressive disease. Correlation analysis showed a significant correlation between the decrease in BEC and tumour response (r = -0.24, p = 0.03). CONCLUSIONS: BPE decreased by, on average, 0.87 BEC following NAC for breast cancer. The degree of BPE reduction seemed to correlate with tumour response. KEY POINTS: • BPE decreases by an average of 0.87 categories under neoadjuvant chemotherapy. • The reduction of BPE following neoadjuvant chemotherapy correlates with the tumour response. • The classification of the BPE shows good agreement among trained readers.

[Digital breast tomosynthesis]. / Digitale Tomosynthese der Mamma.

In digital breast tomosynthesis several low dose mammograms are acquired from different angles to calculate thin slices of synthetic mammograms from algorithms. Similar to computed tomography and magnetic resonance imaging, breast tomosynthesis provides breast images which are virtually free from superimposition. This is in particular important in cases of high mammographic density to differentiate real masses and architectural distortions from the overlying parenchyma. In comparison to full field digital mammography tomosynthesis can improve the cancer detection rate and reduce the recall rate. The limitations of tomosynthesis are the higher radiation dose and the longer reporting time compared to full field digital mammography. Until the radiation dose can be significantly reduced it is advisable to use tomosynthesis in addition to full field digital mammography primarily for the assessment of suspicious mammographic findings and not for breast cancer screening.

Clinical value of magnetic resonance imaging in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: diagnosis of associated malformations, uterine rudiments and intrauterine endometrium.

OBJECTIVES: The aim of this study was to evaluate the accuracy of preoperative magnetic resonance imaging (MRI) in the diagnosis of malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and identification of uterine endometrium to optimise the clinical management. METHODS: We retrospectively reviewed 214 consecutive MRKH patients, mean age 19 years, who underwent laparoscopy-assisted neovagina creation. A total of 115 patients (53.7%) met the inclusion criterion of sufficient preoperative MRI. In 110 of them (95.7%), MRI findings were correlated with laparoscopy and associated malformations. In 39 cases (35.5%) uterine rudiments were removed and analysed histopathologically. RESULTS: Ten per cent (11/110) of the patients showed complete uterine agenesis. The others presented with either unilateral (n = 16; 14.5%) or bilateral (n = 83; 75.5%) uterine rudiments. MRI detection of uterine rudiments agreed in 78.2% (86/110) with laparoscopy. In 85.4% of the removed rudiments, MRI could correctly diagnose the existence of the endometrium. Compared to laparoscopy, MRI could exactly detect ovaries in 97.3% (107/110). Renal or ureteral malformations were seen in 32 cases (27.8%). In 83% of unilateral renal agenesis and unilateral rudiment, the latter was located at the side of the kidney. CONCLUSIONS: MRI is useful for preoperative detection of MRKH-associated malformations and assessment of the endometrium to further optimise MRKH patient treatment. KEY POINTS: • Pelvic MRI is useful for preoperative detection of MRKH-associated malformations. • MRI can diagnose uterine endometrium in MRKH patients with high precision. • Preoperative MRI can optimise clinical management of patients with MRKH syndrome.

MR imaging-guided vacuum-assisted breast biopsy: reduction of false-negative biopsies by short-term control MRI 24-48 h after biopsy.

AIM: To evaluate whether another contrast-enhanced (CE) magnetic resonance imaging (MRI) examination 24-48 h after MRI-guided vacuum-assisted breast biopsy (MRI-VAB) can reduce the rate of false-negative cases. MATERIALS AND METHODS: The study included 252 patients who underwent MRI-VAB for the clarification of 299 lesions. The success of MRI-VAB was assessed at interventional MRI and another CE MRI 24-48 h after the intervention. In cases of successful MRI-VAB (complete or partial lesion removal) and benign histological results, follow-up breast MRI was performed. In cases of unsuccessful biopsy (unchanged lesion), tissue sampling was repeated. False-negative cases were calculated to assess the diagnostic value of MRI follow-up within 2 days after intervention. RESULTS: Ninety-eight malignant (32.8%) and 201 (67.2%) benign lesions were diagnosed using MRI-VAB. At immediate unenhanced control MRI, all lesions were assessed as successfully biopsied. In 18 benign cases (6%), CE MRI after 24-48 h showed an unsuccessful intervention. Further tissue sampling revealed another 13 cancers in these patients. This results in a false-negative rate of 11.7%. Follow-up MRI of the benign lesions presented no further malignancy. CONCLUSIONS: MRI-VAB with immediate unenhanced control offers a success rate of 94%. The rate of false-negative biopsies (11.7%) could be reduced to zero by using short-term follow-up MRI. Therefore, a further CE breast MRI 24-48 h after benign MRI-VAB to eliminate missed cancers is recommended.

Bioabsorption of cadmium, copper and lead by the red macroalga Gelidium floridanum: physiological responses and ultrastructure features.

Heavy metals, such as lead, copper, cadmium, zinc, and nickel, are among the most common pollutants found in both industrial and urban effluents. High concentrations of these metals cause severe toxic effects, especially to organisms living in the aquatic ecosystem. Cadmium (Cd), lead (Pb) and copper (Cu) are the heavy metals most frequently implicated as environmental contaminants, and they have been shown to affect development, growth, photosynthesis and respiration, and morphological cell organization in seaweeds. This paper aimed to evaluate the effects of 50µM and 100µM of Cd, Pb and Cu on growth rates, photosynthetic pigments, biochemical parameters and ultrastructure in Gelidium floridanum. To accomplish this, apical segments of G. floridanum were individually exposed to the respective heavy metals over a period of 7 days. Plants exposed to Cd, Cu and Pb showed discoloration of thallus pigmentation, chloroplast alteration, especially degeneration of thylakoids, and decrease in photosynthetic pigments, such as chlorophyll a and phycobiliproteins, in samples treated with Cd and Cu. Moreover, cell wall thickness and the volume of plastoglobuli increased. X-ray microanalysis detected Cd, Cu and Pb absorption in the cell wall. The results indicate that Cd, Pb and Cu negatively affect metabolic performance and cell ultrastructure in G. floridanum and that Cu was more toxic than either Pb or Cd.

The effect of cadmium under different salinity conditions on the cellular architecture and metabolism in the red alga Pterocladiella capillacea (Rhodophyta, Gelidiales).

The in vitro effect of cadmium (Cd) on apical segments of Pterocladiella capillacea was examined. Over a period of 7 days, the segments were cultivated with the combination of different salinities (25, 35, and 45 practical salinity units) and Cd concentrations, ranging from 0.17 to 0.70 ppm. The effects of Cd on growth rates and content of photosynthetic pigments were analyzed. In addition, metabolic profiling was performed, and samples were processed for microscopy. Serious damage to physiological performance and ultrastructure was observed under different combinations of Cd concentrations and salinity values. Elementary infrared spectroscopy revealed toxic effects registered on growth rate, photosynthetic pigments, chloroplast, and mitochondria organization, as well as changes in lipids and carbohydrates. These alterations in physiology and ultrastructure were, however, coupled to activation of such defense mechanisms as cell wall thickness, reduction of photosynthetic harvesting complex, and flavonoid. In conclusion, P. capillacea is especially sensitive to Cd stress when intermediate concentrations of this pollutant are associated with low salinity values. Such conditions resulted in metabolic compromise, reduction of primary productivity, i.e., photosynthesis, and carbohydrate accumulation in the form of starch granules. Taken together, these findings improve our understanding of the potential impact of this metal in the natural environment.

Application of Unmanned Aerial Vehicle (UAV) Sensing for Water Status Estimation in Vineyards under Different Pruning Strategies.

Pruning determines the plant water status due to its effects on the leaf area and thus the irrigation management. The primary aim of this study was to assess the use of high-resolution multispectral imagery to estimate the plant water status through different bands and vegetation indexes (VIs) and to evaluate which is most suitable under different pruning management strategies. This work was carried out in 2021 and 2022 in a commercial Merlot vineyard in an arid area of central Spain. Two different pruning strategies were carried out: mechanical pruning and no pruning. The stem water potential was measured with a pressure chamber (Ψstem) at two different solar times (9 h and 12 h). Multispectral information from unmanned aerial vehicles (UAVs) was obtained at the same time as the field Ψstem measurements and different vegetation indexes (VIs) were calculated. Pruning management significantly determined the Ψstem, bunch and berry weight, number of bunches, and plant yield. Linear regression between the Ψstem and NDVI presented the tightest correlation at 12 h solar time (R2 = 0.58). The red and red-edge bands were included in a generalised multivariable linear regression and achieved higher accuracy (R2 = 0.74) in predicting the Ψstem. Using high-resolution multispectral imagery has proven useful in predicting the vine water status independently of the pruning management strategy.

Genetic basis of clarithromycin resistance in Bacillus anthracis.

The high-consequence pathogen Bacillus anthracis causes human anthrax and often results in lethal infections without the rapid administration of effective antimicrobial treatment. Antimicrobial resistance profiling is therefore critical to inform post-exposure prophylaxis and treatment decisions, especially during emergencies such as outbreaks or where intentional release is suspected. Whole-genome sequencing using a rapid long-read sequencer can uncover antimicrobial resistance patterns if genetic markers of resistance are known. To identify genomic markers associated with antimicrobial resistance, we isolated B. anthracis derived from the avirulent Sterne strain with elevated minimal inhibitory concentrations to clarithromycin. Mutants were characterized both phenotypically through broth microdilution susceptibility testing and observations during culturing, as well as genotypically with whole-genome sequencing. We identified two different in-frame insertions in the L22 ribosomal protein-encoding gene rplV, which were subsequently confirmed to be involved in clarithromycin resistance through the reversion of the mutant gene to the parent (drug-susceptible) sequence. Detection of the rplV insertions was possible with rapid long-read sequencing, with a time-to-answer within 3 h. The mutations associated with clarithromycin resistance described here will be used in conjunction with known genetic markers of resistance for other antimicrobials to strengthen the prediction of antimicrobial resistance in B. anthracis.IMPORTANCEThe disease anthrax, caused by the pathogen Bacillus anthracis, is extremely deadly if not treated quickly and appropriately. Clarithromycin is an antibiotic recommended for the treatment and post-exposure prophylaxis of anthrax by the Centers for Disease Control and Prevention; however, little is known about the ability of B. anthracis to develop resistance to clarithromycin or the mechanism of that resistance. The characterization of clarithromycin-resistant isolates presented here provides valuable information for researchers and clinicians in the event of a release of the resistant strain. Additionally, knowledge of the genetic basis of resistance provides a foundation for susceptibility prediction through rapid genome sequencing to inform timely treatment decisions.

Community scientist program provides bi-directional communication and co-learning between researchers and community members.

Community involvement in research is key to translating science into practice, and new approaches to engaging community members in research design and implementation are needed. The Community Scientist Program, established at the MD Anderson Cancer Center in Houston in 2018 and expanded to two other Texas institutions in 2021, provides researchers with rapid feedback from community members on study feasibility and design, cultural appropriateness, participant recruitment, and research implementation. This paper aims to describe the Community Scientist Program and assess Community Scientists' and researchers' satisfaction with the program. We present the analysis of the data collected from 116 Community Scientists and 64 researchers who attended 100 feedback sessions, across three regions of Texas including Northeast Texas, Houston, and Rio Grande Valley between June 2018 and December 2022. Community Scientists stated that the feedback sessions increased their knowledge and changed their perception of research. All researchers (100%) were satisfied with the feedback and reported that it influenced their current and future research methods. Our evaluation demonstrates that the key features of the Community Scientist Program such as follow-up evaluations, effective bi-directional communication, and fair compensation transform how research is conducted and contribute to reducing health disparities.

The effects of lead and copper on the cellular architecture and metabolism of the red alga Gracilaria domingensis.

The effect of lead and copper on apical segments of Gracilaria domingensis was examined. Over a period of 7 days, the segments were cultivated with concentrations of 5 and 10 ppm under laboratory conditions. The samples were processed for light, confocal, and electron microscopy, as well as histochemistry, to evaluate growth rates, mitochondrial activity, protein levels, chlorophyll a, phycobiliproteins, and carotenoids. After 7 days of exposure to lead and copper, growth rates were slower than control, and biomass loss was observed on copper-treated plants. Ultrastructural damage was primarily observed in the internal organization of chloroplasts and cell wall thickness. X-ray microanalysis detected lead in the cell wall, while copper was detected in both the cytoplasm and cell wall. Moreover, lead and copper exposure led to photodamage of photosynthetic pigments and, consequently, changes in photosynthesis. However, protein content and glutathione reductase activity decreased only in the copper treatments. In both treatments, decreased mitochondrial NADH dehydrogenase activity was observed. Taken together, the present study demonstrates that (1) heavy metals such as lead and copper negatively affect various morphological, physiological, and biochemical processes in G. domingensis and (2) copper is more toxic than lead in G. domingensis.

Pharmacogenetics of ABCB1, CDA, DCK, GSTT1, GSTM1 and outcomes in a cohort of pediatric acute myeloid leukemia patients from Colombia.

BACKGROUND AND AIM: Different studies have shown pharmacogenetic variants related to drug toxicity in acute myeloid leukemia (AML) patients. Our aim was to identify the association between ABCB1, CDA, DCK, GSTT1, and GSTM1 variants with clinical outcomes and toxicity in pediatric patients with AML. METHODS: Fifty-one confirmed de novo AML pediatric patients were included. A SNaPshot™ assay and conventional PCR were used to evaluate ABCB1, CDA, DCK, GSTT1, and GSTM1 variants. Clinical outcomes and toxicity associations were evaluated using odds ratios and Chi-square analysis. RESULTS: Patients carrying ABCB1 (1236C > T, rs1128503) GG genotype in had a 6.8 OR (CI 95% 1.08-42.73, p = .044) for cardiotoxicity as compared to patients carrying either AA or GA genotypes 0.14 OR (CI 95% 0.023-0.92, p = .044). For ABCB1 (1236G > A rs1128503/2677C > A/T rs2032582/3435G > A rs1045642) AA/AA/AA combined genotypes had a strong association with death after HSTC OR 13.73 (CI 95% 1.94-97.17, p = .009). Combined genotypes GG/CC/GG with CDA (79A > C, rs2072671) CA genotype or CDA (-451G > A, rs532545) CT genotype, had a 4.11 OR (CI 95% 2.32-725, p = .007) and 3.8 OR (CI 95% 2.23-6.47, p = .027) with MRD >0.1% after first chemotherapy cycle, respectively. CONCLUSION: Our results highlight the importance of pharmacogenetic analysis in pediatric AML, particularly in populations with a high degree of admixture, and might be useful as a future tool for patient stratification for treatment.

Genomic alterations in a cohort of pediatric acute myeloid leukemia patients at two cancer centers in Colombia.

Few studies identifying genomic aspects in pediatric acute myeloid leukemia patients in Latin American countries have been reported. The aim of this study was to identify genomic alterations, clinical characteristics and outcomes in a cohort of pediatric AML patients. This descriptive observational cohort study included patients with confirmed de novo acute myeloid leukemia up to 18 years of age. Cytogenetics and conventional FISH analysis, next-generation sequencing and PCR testing were performed. The correlation of genomic data with treatment response and outcomes were analyzed. Of the 51 patients analyzed, 67.4% had a cytogenetic abnormality and 74.5% had a genetic variant. FLT3 variants (ITD or TKD D835) were found in 27.4%, followed by NRAS (21.6%), KRAS (13.7%) and WT1 and KIT (11.8%). Patients were stratified by risk (66.6% high-risk) after the end of induction. FLT3-ITD was associated with relapse (OR 11.25; CI 1.89-66.72, p 0.006) and NRAS with death during induction (OR 16.71; CI 1.51-184.59, p 0.022). Our study highlights the importance of rapid incorporation of genetic testing in pediatric AML in Colombia, as it directly affects treatment decisions and outcomes. Incorporation of targeted therapies with conventional chemotherapy is an increasingly urgent need in pediatric patients.

Postinfectious bronchiolitis obliterans in children: case series at a pediatric hospital in Peru.

BACKGROUND: Postinfectious bronchiolitis obliterans is a rare lung disease; there are limited reports in South America. CASE REPORT: We report 10 patients with this disease diagnosed at the Instituto Nacional de Salud del Niño-Breña (Lima-Peru). The median age at diagnosis was 19 months and all patients had a history of severe acute respiratory infection. The most frequent symptoms were cough, respiratory distress, wheezing, and hypoxemia. The mosaic attenuation pattern was the most frequent on the tomography. All the patients had positive serology for adenovirus. The treatment received was methylprednisolone pulses, azithromycin, hydroxychloroquine, and inhaled corticosteroids. No patient died during the follow-up. CONCLUSIONS: In previously healthy children with a history of severe acute respiratory infection and persistent bronchial obstructive symptoms, the diagnosis of postinfectious bronchiolitis obliterans should be considered. This is the first report in Peru with a therapeutic regimen adapted to our institution.

INTRODUCCIÓN: La bronquiolitis obliterante postinfecciosa es una enfermedad pulmonar poco frecuente; existen limitados reportes en Sudamérica. CASO CLÍNICO: En esta serie se reportan 10 pacientes con esta enfermedad diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú). La mediana de edad al diagnóstico fue de 19 meses. Todos los pacientes presentaron el antecedente de infección respiratoria aguda grave. Los síntomas más frecuentes fueron tos, dificultad respiratoria, sibilancias e hipoxemia; el patrón de atenuación en mosaico fue la característica más frecuente en la tomografía. Todos tenían serología positiva para adenovirus. Se administró tratamiento con pulsos de metilprednisolona, azitromicina, hidroxicloroquina y corticoides inhalados. Ningún paciente falleció durante el seguimiento. CONCLUSIONES: En los niños previamente sanos con antecedente de infección respiratoria aguda grave y sintomatología obstructivo bronquial persistente se debe considerar el diagnóstico de bronquiolitis obliterante postinfecciosa. Este es el primer reporte en Perú con un régimen terapéutico adaptado a nuestra institución.

Effects of natural radiation, photosynthetically active radiation and artificial ultraviolet radiation-B on the chloroplast organization and metabolism of Porphyra acanthophora var. brasiliensis (Rhodophyta, Bangiales).

We undertook a study of Porphyra acanthophora var. brasiliensis to determine its responses under ambient conditions, photosynthetically active radiation (PAR), and PAR+UVBR (ultraviolet radiation-B) treatment, focusing on changes in ultrastructure, and cytochemistry. Accordingly, control ambient samples were collected in the field, and two different treatments were performed in the laboratory. Plants were exposed to PAR at 60 µmol photons m-2 s-1 and PAR + UVBR at 0.35 W m-2 for 3 h per day during 21 days of in vitro cultivation. Confocal laser scanning microscopy analysis of the vegetative cells showed single stellate chloroplast in ambient and PAR samples, but in PAR+UVBR-exposed plants, the chloroplast showed alterations in the number and form of arms. Under PAR+UVBR treatment, the thylakoids of the chloroplasts were disrupted, and an increase in the number of plastoglobuli was observed, in addition to mitochondria, which appeared with irregular, disrupted morphology compared to ambient and PAR samples. After UVBR exposure, the formation of carpospores was also observed. Plants under ambient conditions, as well as those treated with PAR and PAR+UVBR, all showed different concentrations of enzymatic response, including glutathione peroxidase and reductase activity. In summary, the present study demonstrates that P. acanthophora var. brasiliensis shows the activation of distinct mechanisms against natural radiation, PAR and PAR+UVBR.

Efficient synthesis and free-radical scavenging capacity of new 2,4-substituted tetrahydroquinolines prepared via BiCl3-catalyzed three-component Povarov reaction, using N-vinylamides.

Efficient synthesis of new structurally different 2-(het)aryl-4-amidyl-substituted tetrahydroquinolines 8-29 is reported. The synthesis based on BiCl(3)-catalyzed three-component Povarov reaction between anilines, (het)aryl aldehydes and enamides offers a fast, safe, and cheap way for efficient tetrahydroquinoline libraries construction. Using N-vinylamides (N-vinylpyrrolidin-2-one and N-vinylacetamide) in this reaction, it was possible to obtain two series of different cis tetrahydroquinolines with antioxidant properties. Among 14 tested compounds, 7 tetrahydroquinolines revealed a prominent anti-radical capacity, equal or higher than that of the commercial antioxidants. Being the most active molecule, the N-[2-(α-furanyl)-6-methoxy-1,2,3,4-tetrahydroquinolin-4-yl] acetamide 21 was ca. 2.2-fold more potent than the well-known antioxidant, vitamin E (α-tocopherol).

Genomic characterization and computational phenotyping of nitrogen-fixing bacteria isolated from Colombian sugarcane fields.

Previous studies have shown the sugarcane microbiome harbors diverse plant growth promoting microorganisms, including nitrogen-fixing bacteria (diazotrophs), which can serve as biofertilizers. The genomes of 22 diazotrophs from Colombian sugarcane fields were sequenced to investigate potential biofertilizers. A genome-enabled computational phenotyping approach was developed to prioritize sugarcane associated diazotrophs according to their potential as biofertilizers. This method selects isolates that have potential for nitrogen fixation and other plant growth promoting (PGP) phenotypes while showing low risk for virulence and antibiotic resistance. Intact nitrogenase (nif) genes and operons were found in 18 of the isolates. Isolates also encode phosphate solubilization and siderophore production operons, and other PGP genes. The majority of sugarcane isolates showed uniformly low predicted virulence and antibiotic resistance compared to clinical isolates. Six strains with the highest overall genotype scores were experimentally evaluated for nitrogen fixation, phosphate solubilization, and the production of siderophores, gibberellic acid, and indole acetic acid. Results from the biochemical assays were consistent and validated computational phenotype predictions. A genotypic and phenotypic threshold was observed that separated strains by their potential for PGP versus predicted pathogenicity. Our results indicate that computational phenotyping is a promising tool for the assessment of bacteria detected in agricultural ecosystems.

Molecular characterization of hemophilia B patients in Colombia.

BACKGROUND: Hemophilia B (HB) is a coagulation disorder with an X-linked recessive inheritance pattern, caused by plasma FIX deficiency. In Colombia, HB is considered a rare and high-cost disease, with 362 males reported in 2017. METHODS: Here, we characterized 20 HB apparently unrelated families by PCR amplification and Sanger sequencing. RESULTS: Fourteen unique variants were identified: seven missense, three nonsense, one variant in the 3' UTR region, two large deletions >50 bp, and one intronic substitution that affects splicing c.520+13A>G that was present in 7/20 patients (35%). All these variants have been previously reported in the literature, except for exons 3 and 4, deletions, present in one patient. The genotype-phenotype association correlates with the reported in the literature, with the exception of one patient. CONCLUSION: This molecular analysis allowed us to establish the causal variant of HB in 100% of patients, to provide the appropriate genetic counseling to each of the families, and to propose a more cost-effective carrier analysis. Here, we reported the first variants in Colombian population with Hemophilia B, finding a new variant and one intron recurrent variant present in 35% of patients.