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1.
Artigo em Inglês | MEDLINE | ID: mdl-38724288

RESUMO

This retrospective study aimed to assess the effects of the use of intraoperative three-dimensional (3D) imaging on outcomes in surgical treatment of nasal fractures. Furthermore, we investigated whether the use of intraoperative imaging improves outcomes and decreases the frequency of corrective surgeries compared to published literature. This retrospective descriptive study included patients who underwent operative treatment for nasal fractures with the use of intraoperative 3D imaging between January 2015 and January 2020 at a University Hospital. The primary outcome measure was patient satisfaction, which was assessed through patient charts about subjective esthetic problems and nasal obstruction. The secondary outcome measures were the number of intraoperative images and necessity of intra- and postoperative revisions. All the outcomes were evaluated using regression analysis. Of the 172 patients, secondary rhinoplasty and intraoperative revision were performed in 10 (6 %) and 93 (54 %) patients, respectively. Postoperatively, 19 (11 %) and 12 (7 %) patients complained of subjective esthetic problems and nasal obstruction, respectively. The intraoperative revision rate in patients undergoing surgical treatment of nasal fractures with intraoperative 3D imaging was >50 %. However, the incidence of postoperative secondary revision, nasal obstruction, and subjective esthetic problems was lower than that reported in the literature not having an intraoperative imaging. Our findings suggest that prompt quality control of the operative result enables immediate correction and prevents postoperative revision.

3.
Mol Med ; 30(1): 36, 2024 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-38459427

RESUMO

BACKGROUND: The disease-causing mutation in Huntington disease (HD) is a CAG trinucleotide expansion in the huntingtin (HTT) gene. The mutated CAG tract results in the production of a small RNA, HTT1a, coding for only exon 1 of HTT. HTT1a is generated by a block in the splicing reaction of HTT exon 1 to exon 2 followed by cleavage in intron 1 and polyadenylation. Translation of HTT1a leads to the expression of the highly toxic HTT exon 1 protein fragment. We have previously shown that the levels of HTT1a expression in mouse models of HD is dependent on the CAG repeat length. However, these data are lacking for human tissues. METHODS: To answer this question, we developed highly sensitive digital PCR assays to determine HTT1a levels in human samples. These assays allow the absolute quantification of transcript numbers and thus also facilitate the comparison of HTT1a levels between tissues, cell types and across different studies. Furthermore, we measured CAG repeat sizes for every sample used in the study. Finally, we analysed our data with ANOVA and linear modelling to determine the correlation of HTT1a expression levels with CAG repeat sizes. RESULTS: In summary, we show that HTT1a is indeed expressed in a CAG repeat-length-dependent manner in human post mortem brain tissues as well as in several peripheral cell types. In particular, PBMCs show a statistically significant positive correlation of HTT1a expression with CAG repeat length, and elevated HTT1a expression levels even in the adult-onset CAG repeat range. CONCLUSIONS: Our results show that HTT1a expression occurs throughout a wide range of tissues and likely with all CAG lengths. Our data from peripheral sample sources demonstrate that HTT1a is indeed generated throughout the body in a CAG repeat-length-dependent manner. Therefore, the levels of HTT1a might be a sensitive marker of disease state and/or progression and should be monitored over time, especially in clinical trials targeting HTT expression.


Assuntos
Proteína Huntingtina , Doença de Huntington , Expansão das Repetições de Trinucleotídeos , Adulto , Animais , Humanos , Camundongos , Éxons/genética , Proteína Huntingtina/genética , Proteína Huntingtina/metabolismo , Doença de Huntington/genética , Doença de Huntington/metabolismo , Neurônios/metabolismo , RNA/metabolismo
5.
Cell Prolif ; 57(2): e13544, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37697686

RESUMO

Apical-out intestinal organoids are a relatively simple method of gaining access to the apical cell surface and have faced increasing scientific interest over the last few years. Apical-out organoids can thus be used for disease modelling to compare differing effects on the basolateral versus the apical cell surface. However, these 'inside-out' organoids die relatively quickly and cannot be propagated as long as their basal-out counterparts. Here, we show that apical-out organoids have drastically reduced proliferative potential, as evidenced by immunohistochemical staining and the incorporation of the thymidine analogue EdU. At the same time, cell death levels are increased. Nevertheless, these phenomena cannot be explained by an induction of differentiation, as the gene expression of key marker genes for various cell types does not change over time.


Assuntos
Intestinos , Organoides , Animais , Cães , Membrana Celular , Morte Celular , Proliferação de Células
6.
Neuroradiology ; 65(12): 1787-1792, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37640884

RESUMO

PURPOSE: Flow arrest using a balloon guide catheter (BGC) in mechanical thrombectomy (MT) due to large vessel occlusion has been associated with better outcomes. Known limitations of currently commercially available BGCs are incompatibility with large bore aspiration catheters (AC) and lack of distal flexibility. Walrus presents variable stiffness and compatibility with large bore AC. The goal of this study is to describe the first experience with Walrus in a realistic stroke simulation model. METHODS: A full-length modular vascular model under physiological conditions was used. 8F+-Walrus inner-diameter (ID) 0.087in 95 cm combined with 6F-Sofia AC ID 0.070in 131 cm and an 8F-Flowgate2 BGC ID 0.084in 95 cm with a 5F-Sofia AC ID 0.055in 125 cm were used to perform aspiration MT. User surveys, access to target and occlusion site, technique, time of delivery, anatomical change, and catheter kick-back were assessed. RESULTS: Seven neuroradiologists with average of 10 years-experience in MT performed primary aspiration using the above-mentioned combinations in three different anatomies (N = 41). All operators would likely (29%) or very likely (71%) use again Walrus in combination with large bore AC and the majority (86%) found its navigability easier than with other BGCs. Time to reach final BGC position and catheter kick-back did not differ significantly among anatomies or catheter combinations (p > 0.05). However, Walrus was more likely to reach ICA petrous segment (p < 0.05) and intracranial occlusion with AC (p < 0.01). CONCLUSION: The Walrus combined with large bore AC presented significantly better distal access and navigability for primary aspiration in an in vitro stroke model.


Assuntos
Isquemia Encefálica , Acidente Vascular Cerebral , Animais , Morsas , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/cirurgia , Catéteres , Trombectomia/métodos , Stents , Resultado do Tratamento , Estudos Retrospectivos
7.
Ecol Evol ; 13(7): e10302, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37441098

RESUMO

Gravel beaches in the Mediterranean ecoregion represent an economically important and unique habitat type. Yet, burgeoning tourism, intensive coastal development and artificial nourishment of beaches may jeopardize their ecological communities. To date, species that reside on gravel beaches and the consequences of beach alterations are poorly understood, which hampers the development of a sustainable coastal tourism industry along the region's shorelines. Using a simple collection method based on dredging buckets through the intertidal section of beaches, we quantified the microhabitat association of two sympatric clingfish species in the genus Gouania at seven natural and an artificial gravel beach based on sediment characteristics. We hypothesized that slender (G. pigra) and stout (G. adriatica) morphotypes would partition interstitial niche space based on sediment size, which may affect the vulnerability of the species to changes in gravel beach composition due to coastal development. We detected substantial differences in gravel composition within and among the sampled beaches which suggests scope for microhabitat partitioning in Gouania. Indeed, we found significant relationships between species identity and the presence/absence and abundance of individuals in hauls based on their positioning on PC1. Our results suggest that modifications of gravel beaches through coastal development, including beach nourishment, intensifying coastal erosion, or artificial beach creation, may have detrimental consequences for the two species if sediment types or sizes are altered. We posit that, given the simplicity and efficacy of our sampling method and the sensitivity of Gouania species to prevailing gravel composition, the genus could serve as an important indicator for gravel beach management in the Mediterranean ecoregion.

8.
Artigo em Inglês | MEDLINE | ID: mdl-37154519

RESUMO

This study compared the biomechanical behavior of titanium, magnesium, and polylactic acid screws for two-screw osteosynthesis of mandibular condylar head fractures using finite element analysis. Von Mises stress distribution, fracture displacement, and fragment deformation were evaluated. Titanium screws performed the best in terms of carrying the highest load, resulting in the least fracture displacement and fragment deformation. Magnesium screws showed intermediate results, while PLA screws were found to be unsuitable with stress values exceeding their tensile strength. These findings suggest that magnesium alloys could be considered a suitable alternative to titanium screws in mandibular condylar head osteosynthesis.

9.
Transl Stroke Res ; 14(4): 562-571, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-35778671

RESUMO

Computed tomography perfusion (CTP) is used as a tool to select ischemic stroke patients for endovascular treatment (EVT) and is currently investigated in the setting of extensive stroke with low Alberta Stroke Program Early CT scores (ASPECTS). The purpose of this study was to perform a comprehensive quantitative analysis of cerebral blood flow within the ischemic lesion compared to threshold-derived core lesion volumes. We hypothesized that the degree of cerebral blood volume (CBV) reduction within the ischemic lesion is predictive of irreversible tissue injury and functional outcome in patients with low ASPECTS. Ischemic stroke patients with an ASPECTS ≤ 5 who received multimodal CT on admission and underwent thrombectomy were analyzed. The ischemic lesion on CTP was identified, and CTP-derived parameters were measured as absolute means within the lesion and relative to the physiological perfusion measured in a contralateral region of interest. The degree of irreversible tissue injury was assessed using quantitative net water uptake (NWU). Functional endpoint was good outcome defined as modified Rankin Scale (mRS) scores 0-3 at day 90. One hundred eleven patients were included. The median core lesion volume was 71 ml (IQR: 25-107), and the median quantitative NWU was 9.5% (IQR: 6-13). Relative CBV (rCBV) reduction and ASPECTS at baseline were independently associated with NWU in multivariable linear regression analysis (ß: 12.4, 95%CI: 6.0-18.9, p < 0.0001) and (ß: - 0.78, 95% CI: - 1.53 to - 0.02; p = 0.045), respectively. Furthermore, rCBV was significantly associated with good outcome in patients with core volumes > 50 ml (OR: 0.16, 95% CI: 0.05-0.49, p = 0.001). Our study shows that rCBV reduction serves as an early surrogate for increase of NWU as a marker of irreversible tissue injury and lesion progression. Thus, the analysis of rCBV reduction within ischemic lesions may add another dimension to acute stroke triage in addition to core volumes or ASPECTS as indicators of the infarct extent and viability.


Assuntos
Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Isquemia Encefálica/complicações , Isquemia Encefálica/diagnóstico por imagem , Isquemia Encefálica/patologia , AVC Isquêmico/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Acidente Vascular Cerebral/terapia , Perfusão , Trombectomia/métodos , Circulação Cerebrovascular/fisiologia , Estudos Retrospectivos , Resultado do Tratamento
10.
Artigo em Inglês | MEDLINE | ID: mdl-36293797

RESUMO

BACKGROUND: Body image research deals a lot with awareness of the body as an entity. Studies that consider individual anatomical aspects and place them in an intercultural context are rarely present. METHODS: For this purpose, general data, body perception and judgment of body images from 2163 (48% female and 52% male) participants from Germany, Nigeria, the USA and Japan were evaluated as part of a survey. RESULTS: There were clear differences in the personal body image of the participants' own buttocks, the buttocks as a beauty ideal and the way in which dissatisfaction was dealt with in different countries. In addition to sexual well-being (importance score: 0.405 a.u.), the country of origin (0.353), media consumption (0.042) and one's own weight (0.069) were also identified as influencing factors for satisfaction with one's own buttocks. A clear evolution could be derived regarding a WHR (waist-to-hip ratio) of well below 0.7, which was consistently favored by the participants but also propagated by influencers through images (p < 0.001). In this context, participants who indicated celebrities as role models for the buttocks showed a correspondingly high level of dissatisfaction with their own buttocks (R = -0.207, p < 0.001, ρ = -0.218). CONCLUSION: Overall, a highly significant correlation was shown between the consumption frequency of Instagram, TikTok and pornography with the negative perception of women's own buttocks.


Assuntos
Imagem Corporal , Satisfação Pessoal , Feminino , Humanos , Masculino , Nádegas , Japão , Nigéria , Alemanha
11.
Nanoscale ; 14(36): 13040-13045, 2022 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-35912789

RESUMO

We demonstrate a versatile route to functional multi-component nanostructures by a hierarchical electrostatic nanotemplating - self-assembly approach: CdS-polyelectrolyte-porphyrin structures are formed in aqueous solution. The system was investigated with regard to its photocatalytic activity in different model reactions, and the mechanisms upon excitation were elucidated.

12.
Materials (Basel) ; 15(13)2022 Jun 24.
Artigo em Inglês | MEDLINE | ID: mdl-35806592

RESUMO

In the study the influence of different dental technical tools on the surface temperature and phase composition of fixed dental prostheses (FDPs) made of yttria-partially stabilized zirconia polycrystals (3Y-/4Y-/5Y-PSZ) was investigated. FDPs were fabricated by using computer-aided manufacturing (CAM). The FDPs were treated with a contra-angle handpiece equipped with different burs and polishers. The resulting surface temperatures were measured with a thermographic camera, and the resulting phase transformations were investigated by X-ray diffraction and quantified by Rietveld refinement. Processing with burs resulted in no phase transformation, but a preferred orientation shift. Using coarse polisher induced a phase transformation to the rhombohedral phase, while fine polishers produced no relevant phase transformations and no preferred orientation shift. Compared to the monoclinic phase (ca. 9% theoretical volume increase), which is associated with low-temperature degradation (LTD), the rhombohedral phase is much more voluminous (ca. 15% theoretical volume increase) and distorted and, therefore, has a greater degradation potential.

13.
Biomedicines ; 10(6)2022 Jun 11.
Artigo em Inglês | MEDLINE | ID: mdl-35740405

RESUMO

Acid resistance of CAD/CAM resin composites. Erosion-related tooth surface loss is closely related to acid exposure, such as contact with acidic beverages or disease-related reflux. As a result, dental restorations in affected patients are also exposed to acids, which indicates that the performance and longevity of a dental restoration is impacted by the acid resistance of the individually employed restorative materials. However, unlike for ceramic materials, the acid resistance of CAD/CAM resin composites is not commonly evaluated by the manufacturers, and no standardised test methods have yet been established. Against this background, the present in vitro study aimed to examine the long-term resistance of CAD/CAM resin composites (Brilliant Crios, Cerasmart, Grandio blocs, Lava Ultimate, Shofu Block HC) against three acidic media (tonic water, acetic acid, hydrochloric acid) as well as demineralized water and to investigate potential damage mechanisms. Changes in surface roughness (Sa) were detected by confocal laser scanning microscopy (CLSM), and changes in surface hardness were measured using Vickers hardness (HV). The damage mechanisms were analysed by scanning electron microscopy (SEM) with energy dispersive X-ray spectroscopy (EDS) and micro X-ray computer tomography (µXCT). For each material, few changes in either Sa or HV were identified for at least one of the different media; for Cerasmart, the sharpest deterioration in surface properties was observed. SEM-EDS revealed leaching of barium, aluminium, and titanium from fillers in a 2 µm zone on the rough but not on the polished surface of the specimen. Within the limitations of the current study, it can be concluded that polished CAD/CAM resin composites can be recommended for clinical use in patients with erosive conditions.

14.
BMC Ecol Evol ; 22(1): 28, 2022 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-35272610

RESUMO

BACKGROUND: Elasmoid scales are one of the most common dermal appendages and can be found in almost all species of bony fish differing greatly in their shape. Whilst the genetic underpinnings behind elasmoid scale development have been investigated, not much is known about the mechanisms involved in moulding of scales. To investigate the links between gene expression differences and morphological divergence, we inferred shape variation of scales from two different areas of the body (anterior and posterior) stemming from ten haplochromine cichlid species from different origins (Lake Tanganyika, Lake Malawi, Lake Victoria and riverine). Additionally, we investigated transcriptional differences of a set of genes known to be involved in scale development and morphogenesis in fish. RESULTS: We found that scales from the anterior and posterior part of the body strongly differ in their overall shape, and a separate look on scales from each body part revealed similar trajectories of shape differences considering the lake origin of single investigated species. Above all, nine as well as 11 out of 16 target genes showed expression differences between the lakes for the anterior and posterior dataset, respectively. Whereas in posterior scales four genes (dlx5, eda, rankl and shh) revealed significant correlations between expression and morphological differentiation, in anterior scales only one gene (eda) showed such a correlation. Furthermore, eda displayed the most significant expression difference between species of Lake Tanganyika and species of the other two younger lakes. Finally, we found genetic differences in downstream regions of eda gene (e.g., in the eda-tnfsf13b inter-genic region) that are associated with observed expression differences. This is reminiscent of a genetic difference in the eda-tnfsf13b inter-genic region which leads to gain or loss of armour plates in stickleback. CONCLUSION: These findings provide evidence for cross-species transcriptional differences of an important morphogenetic factor, eda, which is involved in formation of ectodermal appendages. These expression differences appeared to be associated with morphological differences observed in the scales of haplochromine cichlids indicating potential role of eda mediated signal in divergent scale morphogenesis in fish.


Assuntos
Ciclídeos , Animais , Ciclídeos/genética , Ectodisplasinas/genética , Lagos , Filogenia , Tanzânia
15.
J Mech Behav Biomed Mater ; 127: 105077, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-35033984

RESUMO

Titanium screws are commonly used for osteosynthesis of mandibular condylar head fractures. Evidence suggests that the insertion of three screws may result in better fracture stability. Two screws only, on the other hand, could reduce adverse effects, mainly bone resorption. This study aimed to investigate the biomechanical differences in mandibular condylar head osteosynthesis with two versus three titanium screws using finite element analysis. A finite element model of the mandible with a right type P condylar head fracture fixed with two or three titanium screws was analyzed in ANSYS Mechanical. The geometry of the model assembly was constructed in ANSYS Spaceclaim. Biomechanical load boundary conditions were obtained from a validated musculoskeletal model in AnyBody Modeling System™. The preprocessing of the finite element model and mapping of the obtained boundary conditions was done in docq VIT. Fracture displacement, fragment deformation, von Mises stress distribution, and reaction forces within the screws were evaluated in ANSYS for three different loading scenarios. Finite element analysis showed similar results when comparing osteosynthesis with two versus three titanium screws for all three loading scenarios. Contralateral molar loading resulted in the highest stress on both the fracture and the screws with the maximum von Mises stress being found at the condylar neck. Stress concentration within the screws was found in the fracture gap and was higher in the lateral fragment. In all scenarios, maximum von Mises stress values were smaller when forces were distributed among three screws. However, stability was also adequate when two screws were used. Mandibular condylar head osteosynthesis with two titanium screws appears to provide sufficient fracture stability. Further clinical studies are needed to clarify the implications of these results.


Assuntos
Fraturas Mandibulares , Fenômenos Biomecânicos , Placas Ósseas , Parafusos Ósseos , Análise de Elementos Finitos , Fixação Interna de Fraturas/métodos , Humanos , Fraturas Mandibulares/cirurgia , Estresse Mecânico
16.
In Vivo ; 35(5): 2755-2762, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34410965

RESUMO

BACKGROUND: Early detection of acute kidney injury (AKI) is crucial in the management of multiple-organ dysfunction syndrome in severely injured patients. Standard laboratory parameters usually increase with temporal delay. Therefore, we evaluated neutrophil gelatinase-associated lipocalin (NGAL) as an early marker for acute kidney injury. PATIENTS AND METHODS: We retrospectively evaluated patients admitted to a level 1 trauma center. We collected clinicodemographic data and measured kidney-related factors and plasma cytokines. RESULTS: A total of 39 patients were included. Patients with AKI had significantly higher levels not only of serum creatinine and urea, but also of NGAL (all p<0.001) than patients without AKI. The optimal NGAL cut-off value was determined to be 177 ng/ml, showing significant correlation with imminent or manifest AKI (p<0.001). Other independent markers correlated with AKI included pre-existing chronic kidney disease, use of catecholamines, and severe injury (p<0.001). CONCLUSION: The serum level of NGAL is feasible early predictor of AKI.


Assuntos
Injúria Renal Aguda , Lipocalinas , Injúria Renal Aguda/diagnóstico , Injúria Renal Aguda/etiologia , Proteínas de Fase Aguda , Biomarcadores , Humanos , Lipocalina-2 , Proteínas Proto-Oncogênicas , Estudos Retrospectivos
17.
J Oral Maxillofac Surg ; 79(9): 1902-1913, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34062130

RESUMO

PURPOSE: Decision making in the management of condylar head fractures remains difficult due to its dependency on multiple factors like fracture type, degree of dislocation, patient`s age and dental condition. As open reduction and internal fixation (ORIF) of condylar head fractures (CHFs) becomes more popular, the question of osteosynthesis removal is controversial. So far, information on volumetric changes after ORIF are available for a short-term period (<6 months) only. This study, therefore, was performed to assess bone resorption after condylar head fractures and to follow-up intermediate-term (>1 year) remodelling after removal of metallic osteosynthesis material. Furthermore clinical outcome was measured using Helkimo Index and put in relation with bone resorption. MATERIALS AND METHODS: A retrospective analysis of 19 patients who underwent open reduction and internal fixation of condylar head fractures at the University Hospital of Zürich between January 2016 and April 2018 using intraoperative cone-beam computed tomography repositioning control was conducted. The bone resorption on the condylar head was measured in the course after removal of osteosynthesis material by segmenting and superimposing of the postoperative 3D radiologic follow-up exam (T2) over the initial intraoperative cone-beam computed tomography (T1) using iPlan-CMF software. Complementary Helkimo index was assessed to put resorption rate in relation to clinical outcome. RESULTS: A total of 19 patients fulfilled the inclusion criteria. The mean follow-up time was 15.6 months and the mean bone resorption on the condylar head was -0.348cm3 or -15.29% of segmented condylar head. There was no correlation of clinical outcome and bone resorption. CONCLUSIONS: Helkimo index showed satisfying results; therefore, ORIF of condylar head fracture proves as a feasible treatment option. The mean bone resorption rate of -15.29% in the intermediate-term follow-up time (mean 15.6 months) is comparable to findings of other studies with short-term follow-up time (< 6 months). Thus, postinterventional remodeling activity and resorption seems highest in the first 4 to 6 postoperative months with little further resorption. In prevention of negative sequelae of protruding implants, timing of osteosynthesis material removal after this period of high bone remodeling activity is recommended. The resorption rate showed no correlation to clinical outcome.


Assuntos
Reabsorção Óssea , Fraturas Mandibulares , Reabsorção Óssea/diagnóstico por imagem , Reabsorção Óssea/etiologia , Seguimentos , Fixação Interna de Fraturas , Humanos , Mandíbula , Côndilo Mandibular/diagnóstico por imagem , Côndilo Mandibular/cirurgia , Fraturas Mandibulares/diagnóstico por imagem , Fraturas Mandibulares/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
18.
Mar Pollut Bull ; 170: 112618, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34146863

RESUMO

Beaches are good indicators for local microplastic distribution and pollution. Multiple methods have been developed for extracting microplastics from sediment through density separation. However, the chemicals applied are often expensive and harmful to the user or the environment. We briefly review the problems associated with the use of these chemicals and present a new floatation medium, potassium carbonate (K2CO3), that has many advantages over other available media. It is non-toxic and cheap, and with a density of 1.54 g/cm3 the K2CO3 solution yielded a mean recovery rate of around 90% for PVC, one of the densest polymers, that cannot be easily extracted with alternative floatation media. We propose that the use of K2CO3 is particularly promising for long term and large-scale monitoring studies, because it allows involving citizen scientists in such studies, leading to an increased public awareness of the plastic problem in the seas.


Assuntos
Microplásticos , Poluentes Químicos da Água , Carbonatos , Monitoramento Ambiental , Sedimentos Geológicos , Plásticos , Potássio , Poluentes Químicos da Água/análise
19.
Nature ; 592(7856): 737-746, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33911273

RESUMO

High-quality and complete reference genome assemblies are fundamental for the application of genomics to biology, disease, and biodiversity conservation. However, such assemblies are available for only a few non-microbial species1-4. To address this issue, the international Genome 10K (G10K) consortium5,6 has worked over a five-year period to evaluate and develop cost-effective methods for assembling highly accurate and nearly complete reference genomes. Here we present lessons learned from generating assemblies for 16 species that represent six major vertebrate lineages. We confirm that long-read sequencing technologies are essential for maximizing genome quality, and that unresolved complex repeats and haplotype heterozygosity are major sources of assembly error when not handled correctly. Our assemblies correct substantial errors, add missing sequence in some of the best historical reference genomes, and reveal biological discoveries. These include the identification of many false gene duplications, increases in gene sizes, chromosome rearrangements that are specific to lineages, a repeated independent chromosome breakpoint in bat genomes, and a canonical GC-rich pattern in protein-coding genes and their regulatory regions. Adopting these lessons, we have embarked on the Vertebrate Genomes Project (VGP), an international effort to generate high-quality, complete reference genomes for all of the roughly 70,000 extant vertebrate species and to help to enable a new era of discovery across the life sciences.


Assuntos
Genoma , Genômica/métodos , Vertebrados/genética , Animais , Aves , Biblioteca Gênica , Tamanho do Genoma , Genoma Mitocondrial , Haplótipos , Sequenciamento de Nucleotídeos em Larga Escala , Anotação de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNA , Cromossomos Sexuais/genética
20.
J Oral Maxillofac Surg ; 79(6): 1302-1312, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33524325

RESUMO

PURPOSE: Patient-specific implants (PSIs) are known to yield reliable outcomes in orbital wall fracture reconstruction (high precision, smoother operating techniques, and shorter surgical duration). This study analyzed the surgical error and clinical and esthetic outcomes of orbital reconstructions with PSIs. METHODS: This ambispective cohort study enrolled patients who underwent orbital reconstruction using PSIs between October 2016 and January 2018. The study end points were surgical error, indication and duration of surgery, long-term sequelae, revision surgeries, and surgical complications. Surgical error was analyzed by superimposing the postoperative implant position onto the preoperative virtual plan. Both qualitative (heat map) and quantitative (distance) measurements were obtained. RESULTS: Three patients were enrolled prospectively, and 23 were enrolled retrospectively. Indications for surgery were defect size (25 patients), diplopia (10 patients), impaired eye motility (4 patients), and significant enophthalmos (6 patients). At the last patient visit, there were 5 cases of diplopia, 1 case of exophthalmos, and 6 cases of slight enophthalmos of incremental degree. In terms of surgical error, a mean distance of 0.6 mm (95% confidence interval, 0.49 to 0.76), with a mean maximal distance of 3.4 mm (95% confidence interval, 2.79 to 4.02), was noted. No revision surgery was necessary. Lid malposition complications were not observed. However, 1 case each of symblepharon and scleral show were observed. No time-saving component was observed. CONCLUSIONS: PSI use in orbital reconstruction guarantees a preplanned 3-dimensional anatomical shape with a mean surgical error of just 0.6 mm. Our clinical results were similar to those of other protocols; however, warranting a complex 3-dimensional anatomical shape also in large orbital fractures with a low mean surgical error is feasible by using PSIs.


Assuntos
Implantes Dentários , Enoftalmia , Fraturas Orbitárias , Implantes Orbitários , Procedimentos de Cirurgia Plástica , Estudos de Coortes , Enoftalmia/etiologia , Enoftalmia/cirurgia , Estética Dentária , Humanos , Órbita/cirurgia , Fraturas Orbitárias/diagnóstico por imagem , Fraturas Orbitárias/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
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