cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.7368218
title: Systematic molecular analysis of hemophilia A patients from Colombia

description: Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male HA patients and 6 women were analyzed. Inversion 22 was detected in 14/33 male patients (42.4%), 3/33 (9.1%) had Inv1, 3/33 (9.1%) had large structural variants, and 11/33 (33.3%) single nucleotide/ small frameshift variants. No genetic variant was found in 2/33 patients (6%). With this systematic approach we detected pathogenic variants in 31 out of 33 male affected individuals (94%) tested for the first time.in a cohort of patients from Colombia.
DOI: 10.6084/m9.figshare.7368218.v1
title: Systematic molecular analysis of hemophilia A patients from Colombia

description: Abstract Hemophilia A (HA) is an X-linked recessive disorder and the second most common coagulation disorder with an incidence of 1 in 5,000 live born males. Worldwide, there are 178,500 affected individuals, 60% with the severe form of the disease. Intron 22 and 1 inversions (Inv22 and Inv1) are the most frequent molecular alterations found in severe HA patients with a frequency of 45-50% and 0.5-5%, respectively. We have implemented a systematic cost-effective strategy for the identification of the molecular alteration in HA patients using Inverse shifting-PCR for Inv22 and Inv1, followed by the analysis of the F8 gene coding region by means of high resolution melting (HRM) PCR and Sanger sequencing in Inv22 and Inv1 negative patients. A total of 33 male HA patients and 6 women were analyzed. Inversion 22 was detected in 14/33 male patients (42.4%), 3/33 (9.1%) had Inv1, 3/33 (9.1%) had large structural variants, and 11/33 (33.3%) single nucleotide/ small frameshift variants. No genetic variant was found in 2/33 patients (6%). With this systematic approach we detected pathogenic variants in 31 out of 33 male affected individuals (94%) tested for the first time.in a cohort of patients from Colombia.
DOI: 10.6084/m9.figshare.7368221
title: Lemierre syndrome: case report

description: Abstract Lemierre syndrome is characterized by septic thrombophlebitis of the internal jugular vein, after an oropharyngeal infection, with septic embolization to the lungs or other organs. This case report describes a 37-year-old female patient who presented with edema and pain in the right hemiface with onset 3 days previously and progressive fatigue and dyspnea since the previous day. She had had tooth 48 extracted 3 days previously. Physical examination at admission found tachypnea, with 60% saturation (in room air), edema at the angle of the right mandible, diffuse reduction of vesicular murmur, and calves free from clubbing. Angiotomography of the chest and laboratory tests were compatible with septic emboli, and cervical computed tomography confirmed a diagnosis of septic thrombophlebitis of the internal jugular vein. She was managed with antibiotics and given treatment for her symptoms. Lemierre syndrome most often occurs in young men and there is embolization to the lungs in up to 97% of cases. Rarely, the etiology of this syndrome may be tooth extraction. Computed tomography is the imaging method most often used for diagnosis and treatment is basically antibiotic. Surgery is thus rarely necessary.
DOI: 10.6084/m9.figshare.7368221.v1
title: Lemierre syndrome: case report

description: Abstract Lemierre syndrome is characterized by septic thrombophlebitis of the internal jugular vein, after an oropharyngeal infection, with septic embolization to the lungs or other organs. This case report describes a 37-year-old female patient who presented with edema and pain in the right hemiface with onset 3 days previously and progressive fatigue and dyspnea since the previous day. She had had tooth 48 extracted 3 days previously. Physical examination at admission found tachypnea, with 60% saturation (in room air), edema at the angle of the right mandible, diffuse reduction of vesicular murmur, and calves free from clubbing. Angiotomography of the chest and laboratory tests were compatible with septic emboli, and cervical computed tomography confirmed a diagnosis of septic thrombophlebitis of the internal jugular vein. She was managed with antibiotics and given treatment for her symptoms. Lemierre syndrome most often occurs in young men and there is embolization to the lungs in up to 97% of cases. Rarely, the etiology of this syndrome may be tooth extraction. Computed tomography is the imaging method most often used for diagnosis and treatment is basically antibiotic. Surgery is thus rarely necessary.
DOI: 10.6084/m9.figshare.7368224
title: Playful Activities for the Development of Oral and Written Language for Children and Adolescents with Down Syndrome

description: ABSTRACT: This paper aimed to investigate the results produced by a language workshop focused on the stimulation of phonological skills and the understanding of the alphabetic system, with a group composed of five children and adolescents with Down syndrome, aged between 9 to 12 years and 11 months. The work was developed by an interdisciplinary team, with a 90-minute duration, once a week, during one year, and was carried out in the therapeutic playroom of a university hospital in the Southeast Region of the country. The methodology was that of collective case studies and the research was composed of a pre-test, intervention, and post-test application. The instruments used evaluated the reading of isolated words; phonological awareness; sequential auditory memory, the ability to repeat real words and non-words. Statistical Package for the Social Sciences - SPSS, version 23.0, was used for the data analysis with the Student t test. The results show statistical significance for phonological awareness skills of rhyme, syllabic manipulation and transposition, segmentation, synthesis, manipulation and phonemic transposition; phonological work memory measured by the repetition of non-dissyllable words, and readings of isolated high-frequency trisyllable words. It was concluded that the systematic stimulation of cognitive-linguistic abilities, especially the phonological ones, was able to favor the learning of the reading and writing of children and adolescents with Down syndrome.
DOI: 10.6084/m9.figshare.7368224.v1
title: Playful Activities for the Development of Oral and Written Language for Children and Adolescents with Down Syndrome

description: ABSTRACT: This paper aimed to investigate the results produced by a language workshop focused on the stimulation of phonological skills and the understanding of the alphabetic system, with a group composed of five children and adolescents with Down syndrome, aged between 9 to 12 years and 11 months. The work was developed by an interdisciplinary team, with a 90-minute duration, once a week, during one year, and was carried out in the therapeutic playroom of a university hospital in the Southeast Region of the country. The methodology was that of collective case studies and the research was composed of a pre-test, intervention, and post-test application. The instruments used evaluated the reading of isolated words; phonological awareness; sequential auditory memory, the ability to repeat real words and non-words. Statistical Package for the Social Sciences - SPSS, version 23.0, was used for the data analysis with the Student t test. The results show statistical significance for phonological awareness skills of rhyme, syllabic manipulation and transposition, segmentation, synthesis, manipulation and phonemic transposition; phonological work memory measured by the repetition of non-dissyllable words, and readings of isolated high-frequency trisyllable words. It was concluded that the systematic stimulation of cognitive-linguistic abilities, especially the phonological ones, was able to favor the learning of the reading and writing of children and adolescents with Down syndrome.
DOI: 10.7284/135515
title: Water Temperature data collected during research cruise OC1908B using a Sea-Bird SBE-38 instrument system onboard the platform RV Oceanus

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7368209
title: Comprehensive explorations of nutritional, functional and potential tasty components of various types of Sufu, a Chinese fermented soybean appetizer

description: Abstract The nutritional, functional and tasty components of three categories of Sufu, divided by strains in the culture phase, were comprehensively investigated in this study. The levels of isoflavones, γ-aminobutyric acid (GABA), phytosterols and soyasaponin were 0.58-2.20, 7.46-57.95, 0.73-2.72 and 10.89-23.35 mg/g dry matter (DM), respectively. Glu was the most abundant of the 17 detected free amino acids (FAAs), followed by Phe, Leu, Val and Asp. Additionally, potential tasty peptide profiles were typed by the segment of molecular weight (MW) &lt; 300 Da, ranging from 79.22% ± 4.12% to 95.24% ± 2.93%. The complex taste impression based on the electronic tongue showed that the bitterness intensity was the highest, which was followed by saltiness and the umami intensity. To some extent, different Sufu categories can be distinguished according to the electronic tongue. The results provide a theoretical basis for improving the quality control and standardization of the manufacturing process.
DOI: 10.6084/m9.figshare.7368209.v1
title: Comprehensive explorations of nutritional, functional and potential tasty components of various types of Sufu, a Chinese fermented soybean appetizer

description: Abstract The nutritional, functional and tasty components of three categories of Sufu, divided by strains in the culture phase, were comprehensively investigated in this study. The levels of isoflavones, γ-aminobutyric acid (GABA), phytosterols and soyasaponin were 0.58-2.20, 7.46-57.95, 0.73-2.72 and 10.89-23.35 mg/g dry matter (DM), respectively. Glu was the most abundant of the 17 detected free amino acids (FAAs), followed by Phe, Leu, Val and Asp. Additionally, potential tasty peptide profiles were typed by the segment of molecular weight (MW) &lt; 300 Da, ranging from 79.22% ± 4.12% to 95.24% ± 2.93%. The complex taste impression based on the electronic tongue showed that the bitterness intensity was the highest, which was followed by saltiness and the umami intensity. To some extent, different Sufu categories can be distinguished according to the electronic tongue. The results provide a theoretical basis for improving the quality control and standardization of the manufacturing process.
DOI: 10.7284/135514
title: Timeserver data collected during research cruise OC1908B using a Microsemi SyncServer S350 instrument system onboard the platform RV Oceanus

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7368203
title: A simple way to obtain average occupation on quantum systems

description: Abstract In this work, we present a simple method to obtain time average occupation of quantum systems with time-independent Hamiltonian. Our method is fast and can be used for system with large Hilbert space. The average occupation can give insights and help finding the best parameter to be used in experiments or for a more complex simulation using time-depended Hamiltonian and density matrix. As an example of application, we use this method to find the best parameters to send a laser to excite a two-level system coupled to cavity mode to a final state.
DOI: 10.7284/135521
title: ADCP (Acoustic Doppler Current Profiler) data collected during research cruise OC1908C using a Hawaii UHDAS instrument system onboard the platform RV Oceanus

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7368203.v1
title: A simple way to obtain average occupation on quantum systems

description: Abstract In this work, we present a simple method to obtain time average occupation of quantum systems with time-independent Hamiltonian. Our method is fast and can be used for system with large Hilbert space. The average occupation can give insights and help finding the best parameter to be used in experiments or for a more complex simulation using time-depended Hamiltonian and density matrix. As an example of application, we use this method to find the best parameters to send a laser to excite a two-level system coupled to cavity mode to a final state.
DOI: 10.7284/135530
title: Anemometer data collected during research cruise OC1908C using a Gill WindObserver II instrument system onboard the platform RV Oceanus

description: Original (unprocessed) data collected during a Field_expedition
DOI: 10.6084/m9.figshare.7368188
title: Validation of reference genes for accurate normalization by quantitative polymerase chain reaction in sugarcane drought stress studies using two cultivars

description: ABSTRACT: The aim of this study was to analyze the expression of putative reference genes in sugarcane under drought stress. The varieties RB72454 and RB72910 were cultivated and the treatments control and drought stress applied to 135-day-old plants grown under field conditions. The stress level of the plants was measured by rate of photosynthesis, transpiration, and stomatal conductance. For each biological replicate, expression analyses were conducted using quantitative polymerase chain reaction for the genes α-tubulin, β-tubulin, β-actin, cyclophilin, eukaryotic elongation factor 1, glyceraldehyde 3-phosphate dehydrogenase (GAPDH), histone H3 and ubiquitin. Stability was evaluated using the geNorm, NormFinder, and BestKeeper software packages. Among the candidate genes, GAPDH was identified as the most stable in all software, indicating its suitability for gene expression studies in sugarcane undergoing drought stress; the gene β-actin was the second most stable. These findings suggest using GAPDH and β-actin for normalization in relative gene expression in sugarcane.
DOI: 10.6084/m9.figshare.7368191
title: Chromosomal polymorphism and comparative chromosome painting in the rufous-collared sparrow (Zonotrichia capensis)

description: Abstract Zonotrichia capensis is widely distributed in the Neotropics. Previous cytogenetic studies demonstrated the presence of polymorphisms in two chromosome pairs (ZCA2 and ZCA4). Here, we report results based on comparative chromosome painting, using probes derived from Gallus gallus and Leucopternis albicollis, focused on characterizing the chromosome organization of Z. capensis. Our results demonstrate the conservation of ancestral syntenies as observed previously in other species of passerine. Syntenies were rearranged by a series of inversions in the second chromosome as described in other Passeriformes, but in this species, by using probes derived from L. albicollis we observed an extra inversion in the second chromosome that had not previously been reported. We also report a paracentric inversion in pair 3; this chromosome corresponds to the second chromosome in Zonotrichia albicollis and may indicate the presence of ancestral inversions in the genus. The chromosomal inversions we found might be important for understanding the phenotypic variation that exists throughout the distribution of Z. capensis.
DOI: 10.6084/m9.figshare.7368185
title: FERTILIZATION EFFECTS ON EUCALYPTUS PELLITA F. MUELL PRODUCTIVITY IN THE COLOMBIAN ORINOCO REGION

description: ABSTRACT The Orinoco region, is the one with the largest area for forest development. Nonetheless, some of its soils are acid and characterized by low fertility levels, which has considerably limited plantation productivity. Therefore, this study aimed at assessing the effects of soil fertilizing and liming by using phosphorus and potassium on 34-month-old Eucalyptus pellita productivity. Tests have been carried out at: Villanueva, Casanare; Puerto Lopez, Meta and La Primavera, Vichada, under a random block design with a factor arrangement of 3x3x3, equivalent to: 0, 1 and 3 Mg ha-1 of dolomitic lime (LIME); 30, 75 and 120 kg ha-1 of P (P2O5) as well as 60, 120 and 180 kg ha-1 of K (K2O). Timber productivity volume was assessed 34 months after planting, obtaining significant differences. In Puerto Lopez, LIME effect on E. pellita growth followed a simple linear model, whereas a logarithmic behavior was observed in La Primavera and Villanueva. P2O5 effect (p&lt;0.01) on timber volume was observed only in La Primavera, following a square-root model. K2O did not have a significant effect (p&gt;0.05) on E. pellita growth. The results obtained indicate the positive effect on E. pellita growth in the three areas of study by using doses of approximately 1 Mg ha-1 of lime; and 120 kg ha-1 of P2O5 in La Primavera.
DOI: 10.6084/m9.figshare.7368188.v1
title: Validation of reference genes for accurate normalization by quantitative polymerase chain reaction in sugarcane drought stress studies using two cultivars

description: ABSTRACT: The aim of this study was to analyze the expression of putative reference genes in sugarcane under drought stress. The varieties RB72454 and RB72910 were cultivated and the treatments control and drought stress applied to 135-day-old plants grown under field conditions. The stress level of the plants was measured by rate of photosynthesis, transpiration, and stomatal conductance. For each biological replicate, expression analyses were conducted using quantitative polymerase chain reaction for the genes α-tubulin, β-tubulin, β-actin, cyclophilin, eukaryotic elongation factor 1, glyceraldehyde 3-phosphate dehydrogenase (GAPDH), histone H3 and ubiquitin. Stability was evaluated using the geNorm, NormFinder, and BestKeeper software packages. Among the candidate genes, GAPDH was identified as the most stable in all software, indicating its suitability for gene expression studies in sugarcane undergoing drought stress; the gene β-actin was the second most stable. These findings suggest using GAPDH and β-actin for normalization in relative gene expression in sugarcane.
DOI: 10.6084/m9.figshare.7368185.v1
title: FERTILIZATION EFFECTS ON EUCALYPTUS PELLITA F. MUELL PRODUCTIVITY IN THE COLOMBIAN ORINOCO REGION

description: ABSTRACT The Orinoco region, is the one with the largest area for forest development. Nonetheless, some of its soils are acid and characterized by low fertility levels, which has considerably limited plantation productivity. Therefore, this study aimed at assessing the effects of soil fertilizing and liming by using phosphorus and potassium on 34-month-old Eucalyptus pellita productivity. Tests have been carried out at: Villanueva, Casanare; Puerto Lopez, Meta and La Primavera, Vichada, under a random block design with a factor arrangement of 3x3x3, equivalent to: 0, 1 and 3 Mg ha-1 of dolomitic lime (LIME); 30, 75 and 120 kg ha-1 of P (P2O5) as well as 60, 120 and 180 kg ha-1 of K (K2O). Timber productivity volume was assessed 34 months after planting, obtaining significant differences. In Puerto Lopez, LIME effect on E. pellita growth followed a simple linear model, whereas a logarithmic behavior was observed in La Primavera and Villanueva. P2O5 effect (p&lt;0.01) on timber volume was observed only in La Primavera, following a square-root model. K2O did not have a significant effect (p&gt;0.05) on E. pellita growth. The results obtained indicate the positive effect on E. pellita growth in the three areas of study by using doses of approximately 1 Mg ha-1 of lime; and 120 kg ha-1 of P2O5 in La Primavera.
DOI: 10.6084/m9.figshare.7368191.v1
title: Chromosomal polymorphism and comparative chromosome painting in the rufous-collared sparrow (Zonotrichia capensis)

description: Abstract Zonotrichia capensis is widely distributed in the Neotropics. Previous cytogenetic studies demonstrated the presence of polymorphisms in two chromosome pairs (ZCA2 and ZCA4). Here, we report results based on comparative chromosome painting, using probes derived from Gallus gallus and Leucopternis albicollis, focused on characterizing the chromosome organization of Z. capensis. Our results demonstrate the conservation of ancestral syntenies as observed previously in other species of passerine. Syntenies were rearranged by a series of inversions in the second chromosome as described in other Passeriformes, but in this species, by using probes derived from L. albicollis we observed an extra inversion in the second chromosome that had not previously been reported. We also report a paracentric inversion in pair 3; this chromosome corresponds to the second chromosome in Zonotrichia albicollis and may indicate the presence of ancestral inversions in the genus. The chromosomal inversions we found might be important for understanding the phenotypic variation that exists throughout the distribution of Z. capensis.
DOI: 10.6084/m9.figshare.7368179
title: Diatom assemblages (Bacillariophyta) in six tropical reservoirs from southeast Brazil: species composition and spatial and temporal variation patterns

description: Abstract Aim Relationships between species composition and variation patterns in diatom assemblages over six tropical reservoirs located in Southeast Brazil were explored. Methods Surface-sediment and phytoplankton diatom assemblages were determined and Canonical Correspondence Analysis was used to verify the set of environmental variables that best explain the species composition variation among sites. Results A total of 28 diatom taxa representing 20 genera were identified using light and scanning electron microscopy. Information on their ecological preferences was also provided. Humidophila biscutella is reported for the first time in Brazil whereas Sellaphora sassiana and Humidophila brekkaensis are reported for the first time in São Paulo State. Three groups of potential water quality indicators were delineated: the first suggests oligotrophic conditions, the second is related to cold waters with low luminosity in a mixing regime, and the third is a small group of tolerant species occurring in water with high conductivity, pH and total phosphorus conditions. Conclusion present study provided the first insight into the general diatom communities over six tropical reservoirs in Southeast Brazil and provided information on their ecology and distribution aiming bioassessment. The potential of water quality indicator diatom groups here outlined are in line with those reported in the literature and reinforce the importance of PEJU for the maintenance of ecological quality of reservoirs and reference conditions for the Metropolitan Region of São Paulo water sources.