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AIM: This retrospective cohort study aimed to volumetrically investigate the bone stability rate of prefabricated allogeneic bone blocks (PBB) and computer-aided design (CAD)/computer-aided manufacturing (CAM) custom-milled allogeneic bone blocks (CCBB) for ridge augmentation. MATERIALS AND METHODS: Nineteen patients were treated with 20 allografts: 11 CCBB, 9 PBB; 10 in the maxilla and 10 in the mandible. Clinical treatment history and cone beam computed tomography scans before surgery (t0), directly after graft surgery (t1) and after 6 months of healing prior to implant insertion (t2) were evaluated using a three-dimensional evaluation software for absolute bone volume, stability as well as vertical and horizontal bone gain. Furthermore, the inserted implants were analysed for survival, marginal bone loss (MBL) and complications for a mean follow-up period of 43.75 (±33.94) months. RESULTS: A mean absolute volume of 2228.1 mm3 (±1205) was grafted at t1. The bone stability rate was 87.6% (±9.9) for CCBB and 83.0% (±14.5) for PBB. The stability was higher in the maxilla (91.6%) than in the mandible (79.53%). Surgery time of PBB was longer than for CCBB (mean Δ = 52 min). The survival rate of the inserted implants was 100% with a mean MBL of 0.41 mm (±0.37). CONCLUSION: The clinical performance of both allograft block designs was equally satisfactory for vertical and horizontal bone grafting prior to implant placement. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov: NCT06027710.
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Transplante Ósseo , Desenho Assistido por Computador , Tomografia Computadorizada de Feixe Cônico , Implantes Dentários , Imageamento Tridimensional , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Perda do Osso Alveolar/diagnóstico por imagem , Aumento do Rebordo Alveolar/métodos , Transplante Ósseo/métodos , Estudos de Coortes , Implantação Dentária Endóssea/métodos , Seguimentos , Imageamento Tridimensional/métodos , Estudos RetrospectivosRESUMO
OBJECTIVES: Artefacts from dental implants in three-dimensional (3D) imaging may lead to incorrect representation of anatomical dimensions and impede virtual planning in navigated implantology. The aim of this study was quantitative assessment of artefacts in 3D STL models from cone beam CT (CBCT) and multislice CT (MSCT) using different scanning protocols and titanium-zirconium (Ti-Zr) and zirconium (ZrO2) implant materials. METHODS: Three ZrO2 and three Ti-Zr implants were respectively placed in the mandibles of two fresh human specimens. Before (baseline) and after implant placement, 3D digital imaging scans were performed (10 repetitions per timepoint: voxel size 0.2 mm³ and 0.3 mm³ for CBCT; 80 and 140 kV in MSCT). DICOM data were converted into 3D STL models and evaluated in computer-aided design software. After precise merging of the baseline and post-op models, the surface deviation was calculated, representing the extent of artefacts in the 3D models. RESULTS: Compared with baseline, ZrO2 emitted 36.5-37.3% (±0.6-0.8) artefacts in the CBCT and 39.2-50.2% (±0.5-1.2) in the MSCT models. Ti-Zr implants produced 4.1-7.1% (±0.3-3.0) artefacts in CBCT and 5.4-15.7% (±0.5-1.3) in MSCT. Significantly more artefacts were found in the MSCT vs CBCT models for both implant materials (p < 0.05). Significantly fewer artefacts were visible in the 3D models from scans with higher kilovolts in MSCT and smaller voxel size in CBCT. CONCLUSIONS: Among the four applied protocols, the lowest artefact proportion of ZrO2 and Ti-Zr implants in STL models was observed with CBCT and the 0.3 mm³ voxel size.
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Implantes Dentários , Zircônio , Humanos , Titânio , Artefatos , Tomografia Computadorizada de Feixe Cônico/métodosRESUMO
AIM: The aim was to systematically evaluate the effect of low insertion torque values on the survival rate of immediately loaded dental implants. MATERIALS AND METHODS: The protocol was registered with PROSPERO (ID CRD42020189499). An electronic search was performed in PubMed, Embase, Web of Science, and Cochrane Central Register of Controlled Trials until June 2022 in English and Spanish. Studies analysing the failure or survival rate of immediately loaded dental implants according to different insertion torque values were included. RESULTS: Five-hundred seventy-three articles were assessed for eligibility, of which seven articles, four randomized clinical trials (RCTs), one controlled clinical trial, and two prospective case series studies were included in the qualitative analysis. The RCTs were classified as having low risk of bias and the non-RCTs as having moderate and serious risk of bias. The mean survival rate for implants with low insertion toque (≤35 Ncm) was 96% (p > .001, 95% confidence interval [CI]: 0.91-0.98) and that for implants with medium or high insertion torque (>35 Ncm) was 92% (p > .001, 95% CI: 0.86-0.96) (incidence rate ratio [IRR] = 1.05, 95% CI: 0.79-1.39, p = .175, I2 = 0.0%). Splinted implants with insertion torque >20 Ncm and single implants with insertion torque >35 Ncm had a higher survival rate than implants with lower insertion torque values (IRR = 1.05, 95% CI: 0.78-1.43, p = .956, I2 = 0.0%, and RR = 0.92, 95% CI: 0.48-1.75, p = .799, I2 = 0.0%, respectively). Different insertion torque values achieved equivalent outcomes. The mean follow-up was 24 months. CONCLUSIONS: Low insertion torque values have no significant effect on survival rates of immediate loading implants at a mean follow-up of 24 months.
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Implantes Dentários , Carga Imediata em Implante Dentário , Implantação Dentária Endóssea/métodos , Carga Imediata em Implante Dentário/métodos , Taxa de Sobrevida , Torque , Prótese Dentária Fixada por Implante , Falha de Restauração DentáriaRESUMO
Motivation: Countries facing challenges of nutrition security confront a trade-off when dealing with pandemics such as COVID-19. Implementing lockdown measures, widely used worldwide, can help "flatten the curve" (of disease), but such measures may worsen nutrition security. Purpose: We aim to identify and justify nutrition-sensitive lockdown measures to reduce trade-offs with nutrition security. Methods and approach: We propose a conceptual framework which distinguishes eight lockdown measures and six pathways to nutrition security. To demonstrate the relevance of the pathways, we reviewed emerging literature on COVID-19 and nutrition security. We analysed the content of 1,188 newspaper articles on lockdown effects in five African countries - Benin, Ghana, Kenya, Uganda and Zambia. Findings: Some lockdown measures, such as closing workplaces and restricting movement, potentially worsen nutrition far more than others - banning events and public gatherings have far lesser impacts on nutrition. This can be seen from the framework, literature, and is supported by the analysis of newspaper reports in the five countries. Policy implications: It is better when possible to test and trace disease than to lockdown. But when lockdowns are needed, then first recourse should be to measures that have few nutritional consequences, such as banning public events. When more drastic measures are necessary, look to mitigate nutritional harm by, for example, exempting farm labour from restrictions on movement, by replacing school meals with take-home rations, and, above all, providing income support to households most affected and most vulnerable.
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BACKGROUND: In mucogingival and implant surgery, an autologous soft tissue graft from the palate is the gold standard for reconstructing missing keratinised soft tissue and volume. Previously, presurgical measurements of the graft harvesting site were described with two-dimensional (2D) linear measurements. The present observational clinical study aimed to evaluate a three-dimensional (3D) measurement method for determining the present palatal soft tissue volume for each patient individually. METHODS: Pre-existing cone beam computed tomography (CBCT) scans of 20 patients were converted into 3D Standard Tessellation Language models of the bone surface. Intraoral impressions of the maxilla were taken and digitised to visualise the gingival surface. The resulting virtual models of bone (reference value) and gingival (actual value) surfaces were merged, with tooth surfaces used for registration. The region between the central incisors and the hard palate was subdivided into 5 regions of interest (ROIs). The distance between palatal bone and gingival surface was analysed both volumetrically and linearly, and the results were statistically evaluated for the ROIs. RESULTS: The average gingival surface area on the palate was 19.1 cm2, and the mean volume was 58.2 cm3 (± 16.89). Among the ROIs, the mean linear value was highest in the most distal region, from the second molar to the hard palate (4.0 ± 1.09 mm) and lowest in the canine region (1.9 ± 0.63 mm). For mean distance, significant differences were found for the anterior palate and the most posterior palate in comparison with all other ROIs (p < 0.01). The volume measurements also declined significantly and steadily between the posterior (1.9 ± 1.0 cm3) and anterior palates (0.4 ± 0.2 cm3). CONCLUSIONS: By merging digital data, palatal soft tissue could be quantified virtually. The results were reliable and comparable to previous findings with linear measurement methods. This 3D soft tissue volume analysis method fully exploited the diagnostic potential of data that are frequently collected for presurgical planning in oral surgery (i.e., CBCT + surface scans). This evaluation method might be useful for volumetric and linear measurements in other applications in anatomy and for determining palatal soft tissue dimensions in the planning stage before surgical interventions. TRIAL REGISTRATION: This observational clinical trial was retrospectively registered in the German Clinical Trials Register, reference number: DRKS00023918.
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Tomografia Computadorizada de Feixe Cônico , Palato , Tomografia Computadorizada de Feixe Cônico/métodos , Maxila/diagnóstico por imagem , Dente Molar , Palato/anatomia & histologia , Palato/diagnóstico por imagem , Palato/cirurgia , Palato Duro , Fluxo de TrabalhoRESUMO
Kidney stone disease (KSD) is a prevalent condition associated with high morbidity, frequent recurrence, and progression to chronic kidney disease (CKD). The etiology is multifactorial, depending on environmental and genetic factors. Although monogenic KSD is frequent in children, unbiased prevalence data of heritable forms in adults is scarce. Within 2 years of recruitment, all patients hospitalized for urological kidney stone intervention at our center were consecutively enrolled for targeted next generation sequencing (tNGS). Additionally, clinical and metabolic assessments were performed for genotype-phenotype analyses. The cohort comprised 155 (66%) males and 81 (34%) females, with a mean age at first stone of 47 years (4-86). The diagnostic yield of tNGS was 6.8% (16/236), with cystinuria (SLC3A1, SLC7A9), distal renal tubular acidosis (SLC4A1), and renal phosphate wasting (SLC34A1, SLC9A3R1) as underlying hereditary disorders. While metabolic syndrome traits were associated with late-onset KSD, hereditary KSD was associated with increased disease severity in terms of early-onset, frequent recurrence, mildly impaired kidney function, and common bilateral affection. By employing systematic genetic analysis to a less biased cohort of common adult kidney stone formers, we demonstrate its diagnostic value for establishing the underlying disorder in a distinct proportion. Factors determining pretest probability include age at first stone (<40 years), frequent recurrence, mild CKD, and bilateral KSD.
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Cálculos Renais , Insuficiência Renal Crônica , Masculino , Feminino , Humanos , Cálculos Renais/genética , Cálculos Renais/diagnóstico , Testes Genéticos , Fenótipo , ProbabilidadeRESUMO
Transforming growth factor ß (TGF-ß) signaling plays a fundamental role in metazoan development and tissue homeostasis. However, the molecular mechanisms concerning the ubiquitin-related dynamic regulation of TGF-ß signaling are not thoroughly understood. Using a combination of proteomics and an siRNA screen, we identify pVHL as an E3 ligase for SMAD3 ubiquitination. We show that pVHL directly interacts with conserved lysine and proline residues in the MH2 domain of SMAD3, triggering degradation. As a result, the level of pVHL expression negatively correlates with the expression and activity of SMAD3 in cells, Drosophila wing, and patient tissues. In Drosophila, loss of pVHL leads to the up-regulation of TGF-ß targets visible in a downward wing blade phenotype, which is rescued by inhibition of SMAD activity. Drosophila pVHL expression exhibited ectopic veinlets and reduced wing growth in a similar manner as upon loss of TGF-ß/SMAD signaling. Thus, our study demonstrates a conserved role of pVHL in the regulation of TGF-ß/SMAD3 signaling in human cells and Drosophila wing development.
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Proteólise , Transdução de Sinais , Proteína Smad3/metabolismo , Fator de Crescimento Transformador beta/metabolismo , Proteína Supressora de Tumor Von Hippel-Lindau/metabolismo , Animais , Drosophila melanogaster/metabolismo , Células HCT116 , Células HeLa , Humanos , Ligação Proteica , Domínios Proteicos , Proteína Smad2/metabolismo , Proteína Smad3/química , Ubiquitina-Proteína Ligases/metabolismoRESUMO
Facing COVID-19, African countries were confronted with a dilemma: enacting strict lockdowns to "flatten the curve" could potentially have large effects on food security. Given this catch-22 situation, there was widespread concern that Africa would suffer most from the pandemic. Yet, emerging evidence in early 2021 showed that COVID-19 morbidity remained low, while "biblical famines" have been avoided so far. This paper explores how five African countries maneuvered around the potentially large trade-offs between public health and food security when designing their policy responses to COVID-19 based on a content analysis of 1188 newspaper articles. The findings show that food security concerns played an important role in the public policy debate and influenced the stringency of lockdowns, especially in more democratic countries.
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OBJECTIVES: This study's hypothesis was to evaluate differences of the occlusal wear rate for monolithically fabricated lithium disilicate and hand-veneered zirconia crowns in-vivo. Furthermore, a comparison of the materials' clinical performance according to CDA criteria was investigated. METHODS: A total number of 15 patients in the need of full-coverage ceramic fixed dental prosthesis on molars were treated with two crowns each (nâ¯=â¯30), randomly assigned on the contralateral sides made of monolithic IPS e.max CAD (nâ¯=â¯15) and IPS e.max Ceram hand-veneered zirconia (nâ¯=â¯15). Clinical examination was conducted, silicone impressions were taken and plaster models fabricated at the day of crown insertion (baseline) and after 1, 2 and 3 years. The abrasion rate was digitally investigated: after model digitization with the industrial scanner Atos II, each follow-up model was superimposed with the baseline model. The wear was evaluated as the difference between two scans in terms of maximum vertical loss [mm], average decrease [mm] and volume loss [mm³]. For statistical analysis, the Mann-Whitney U test was performed and significance was set to less than 0.05. RESULTS: IPS e.max CAD crowns showed a volume loss of -0.68â¯mm³ after three years, while IPS e.max Ceram hand-veneered zirconia crowns showed a volumetric wear of -0.75â¯mm³ at the same point of time. However, no significant differences were found between both materials regarding the 3 evaluated wear parameters. The survival rate for both materials was 100 % and the clinical performance outcome was good to excellent. CONCLUSION: The two investigated materials for ceramic fixed dental prostheses showed similar wear rates and clinical performance over an in-vivo use of 3 years. CLINICAL SIGNIFICANCE: Ceramic restorations are subject to occlusal wear over time due to the natural masticatory process. Both monolithic lithium disilicate and glass-ceramic veneered zirconia copings showed clinically satisfactory results over 3 years in-situ. In terms of abrasion, they are equally well suited for clinical use.
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Atrito Dentário , Cerâmica , Desenho Assistido por Computador , Coroas , Porcelana Dentária , Planejamento de Prótese Dentária , Humanos , Boca , ZircônioRESUMO
BACKGROUND/OBJECTIVE: In this retrospective study, we aimed to investigate a new 3D evaluation method for evaluating bone regeneration after cystectomy of odontogenic cysts. METHODS: The study included 26 patients who underwent cystectomies between 2012 and 2017 and had received either fillings or non-fillings with autologous iliac crest. Bony regeneration was analyzed using 3D imaging software and comparing identical regions of interest (ROIs) that were determined by exact overlays of the postoperative cone beam computer tomography (CBCT) or computer tomography (CT) images. Outcome measures, including volume changes according to the defect size and configuration, patient age, the entity and distribution of the cysts, were collected. RESULTS: Twenty-six patients (5 women and 21 men) had 30 defects, including nine keratocysts, seven radicular cysts and 14 dentigerous cysts. A total of 73% of the defects were in the mandible. The mean 3D follow-up time was 12 months. According to the 3D evaluation of bony regeneration, the defect size and configuration showed no significant differences between the groups (filled or non-filled with 15 defects per group). CONCLUSIONS: By establishing a standardized 3D method for evaluating bone regeneration, healing can be better monitored and evaluated.
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Regeneração Óssea/fisiologia , Cistectomia , Imageamento Tridimensional/métodos , Cistos Odontogênicos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Autoenxertos , Tomografia Computadorizada de Feixe Cônico , Feminino , Humanos , Ílio/transplante , Arcada Osseodentária/diagnóstico por imagem , Masculino , Doenças Mandibulares/diagnóstico por imagem , Doenças Mandibulares/cirurgia , Doenças Maxilares/diagnóstico por imagem , Doenças Maxilares/cirurgia , Pessoa de Meia-Idade , Cistos Odontogênicos/diagnóstico por imagem , Cistos Odontogênicos/cirurgia , Estudos Retrospectivos , Adulto JovemRESUMO
Biallelic mutations in MAPKBP1 were recently associated with late-onset cilia-independent nephronophthisis. MAPKBP1 was found at mitotic spindle poles but could not be detected at primary cilia or centrosomes. Here, by identification and characterization of novel MAPKBP1 variants, we aimed at further investigating its role in health and disease. Genetic analysis was done by exome sequencing, homozygosity mapping, and a targeted kidney gene panel while coimmunoprecipitation was used to explore wild-type and mutant protein-protein interactions. Expression of MAPKBP1 in non-ciliated HeLa and ciliated inner medullary collecting duct cells enabled co-localization studies by fluorescence microscopy. By next generation sequencing, we identified two novel homozygous MAPKBP1 splice-site variants in patients with nephronophthisis-related chronic kidney disease. Splice-site analyses revealed truncation of C-terminal coiled-coil domains and patient-derived deletion constructs lost their ability to homodimerize and heterodimerize with paralogous WDR62. While wild-type MAPKBP1 exhibited centrosomal, basal body, and microtubule association, mutant proteins lost the latter and showed reduced recruitment to cell cycle dependent centriolar structures. Wild-type and mutant proteins had no reciprocal influence upon co-expression excluding dominant negative effects. Thus, MAPKBP1 appears to be a novel microtubule-binding protein with cell cycle dependent centriolar localization. Truncation of its coiled-coil domain is enough to abrogate its dimerization and results in severely disturbed intracellular localizations. Delineating the impact of impaired dimerization on cell cycle regulation and intracellular kidney signaling may provide new insights into common mechanisms of kidney degeneration. Thus, due to milder clinical presentation, MAPKBP1-associated nephronophthisis should be considered in adult patients with otherwise unexplained chronic kidney disease.
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Centrossomo , Doenças Renais Policísticas , Adulto , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Centrossomo/metabolismo , Cílios/metabolismo , Dimerização , Fibrose , Humanos , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas do Tecido Nervoso/metabolismo , Doenças Renais Policísticas/metabolismoRESUMO
Atypical hemolytic uremic syndrome (aHUS) is a heterogeneous disorder characterized by microangiopathic hemolytic anemia (MAHA), thrombocytopenia, and acute kidney injury (AKI). In about 50% of cases, pathogenic variants in genes involved in the innate immune response including complement factors complement factor H (CFH), CFI, CFB, C3, and membrane co-factor protein (MCP/CD46) put patients at risk for uncontrolled activation of the alternative complement pathway. As aHUS is characterized by incomplete penetrance and presence of additional triggers for disease manifestation, genetic variant interpretation is challenging and streamlined functional variant evaluation is urgently needed. Here, we report the case of a 27-year-old female without previous medical and family history who presented with confusion, petechial bleeding, and anuric AKI. Kidney biopsy revealed glomerular thrombotic microangiopathy (TMA). Targeted next generation sequencing identified a paternally transmitted novel heterozygous splice site variant in the CFH gene [c.3134-2A>G; p.Asp1045_Thr1053del] which resulted in a partial in-frame deletion of exon 20 transcript as determined by cDNA analysis. On the protein level, the concomitant loss of 9 amino acids in the short consensus repeat (SCR) domains 17 and 18 of CFH includes a highly conserved cysteine residue, which is assumed to be essential for proper structural folding and protein function. Treatment with steroids, plasmapheresis, and the complement inhibitor eculizumab led to complete hematological and clinical remission after several months and stable renal function up to 6 years later. In conclusion, genetic investigation for pathogenic variants and evaluation of their functional impact, in particular in the case of splice site variants, is clinically relevant and enables not only better molecular understanding but helps to guide therapy with complement inhibitors.
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Loss-of-function mutations of SLC34A3 represent an established cause of a distinct renal phosphate wasting disorder termed hereditary hypophosphatemic rickets with hypercalciuria (HHRH). SLC34A3 encodes the renal phosphate transporter NaPi2c expressed at the apical brush border of proximal renal tubules. Substitution of p.Ser192Leu is one of the most frequent genetic changes among HHRH patients in Europe, but has never been systematically evaluated, clinically or on a cellular level. Identification of a 32-year-old female with a homozgyous c.575C>T, p.Ser192Leu substitution enabled a more comprehensive assessment of the impact of this missense variant. Clinically, the patient showed renal phosphate wasting and nephrocalcinosis without any bone abnormalities. Heterozygous carriers of deleterious SLC34A3 variants were previously described to harbor an increased risk of kidney stone formation and renal calcification. We hence examined the frequency of p.Ser192Leu variants in our adult kidney stone cohort and compared the results to clinical findings of previously published cases of both mono- and biallelic p.Ser192Leu changes. On a cellular level, p.Ser192Leu-mutated transporters localize to the plasma membrane in different cellular systems, but lead to significantly reduced transport activity of inorganic phosphate upon overexpression in Xenopus oocytes. Despite the reduced function in ectopic cellular systems, the clinical consequences of p.Ser192Leu may appear relatively mild, at least in our index patient, and can potentially be missed in clinical practice.
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Raquitismo Hipofosfatêmico Familiar/genética , Hipercalciúria/genética , Mutação de Sentido Incorreto , Nefrocalcinose/genética , Proteínas Cotransportadoras de Sódio-Fosfato Tipo IIc/genética , Adulto , Raquitismo Hipofosfatêmico Familiar/complicações , Feminino , Humanos , Hipercalciúria/complicações , Nefrocalcinose/complicaçõesRESUMO
This fMRI study investigated brain activity while soccer players were imagining creative moves in real soccer decision-making situations. After presenting brief video clips of a soccer scene, participants had to imagine themselves as the acting player and think either of a creative or obvious move that might lead to a goal. Findings revealed stronger activation during trials in which the generation of obvious moves was required, relative to trials requiring creative moves. The reversed contrast (creative > obvious) showed no significant effects. Activations were mainly left-lateralized, primarily involving the cuneus, middle temporal gyrus, and the rolandic operculum, which are known to support the processing of multimodal input from different sensory, motor and perceptual sources. Interestingly, more creative solutions in the soccer task were associated with smaller contrast values for the activation difference between obvious and creative trials, or even with more activation in the latter. Furthermore, higher trait creative potential (as assessed by a figural creativity test) was associated with stronger activation differences between both conditions. These findings suggest that with increasing soccer-specific creative task performance, the processing of the manifold information provided by the soccer scenario becomes increasingly important, while in individuals with higher trait creative potential these processes were recruited to a minor degree. This study showed that soccer-specific creativity tasks modulate activation levels in a network of regions supporting various cognitive functions such as semantic information processing, visual and motor imagery, and the processing and integration of sensorimotor and somatosensory information.
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Encéfalo/fisiologia , Criatividade , Tomada de Decisões/fisiologia , Imaginação/fisiologia , Futebol , Adolescente , Adulto , Mapeamento Encefálico/métodos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Adulto JovemRESUMO
PURPOSE: Three-dimensional (3D) radiological imaging plays an important role in surgical planning used in modern dentistry. The aim of this study was to optimize imaging parameters with a special focus on voxel size and scan time. MATERIAL AND METHODS: A virtual 3D master model of a macerated human skull was generated using an industrial optical noncontact white light scanner. The skull was X-rayed with cone-beam computed tomography that was applied using different settings for voxel size and acquisition time (voxel edge length of 0.3 mm, scan times 4.8 s and 8.9 s; voxel edge length of 0.2 mm, scan times 14.7 s and 26.9 s). The scan was repeated 10 times at each setting. The CBCT scans were converted into 3D virtual models (actual value), which were superimposed with the 3D master model (reference value) to detect absolute differences. RESULTS: The mean value of deviation increased with increasing voxel size and decreasing scan time. For a voxel edge length of 0.3 mm, the mean values of deviation were 0.33 mm and 0.22 mm with scan times of 4.8 s and 8.9 s, respectively. For a voxel edge length of 0.2 mm, the mean deviations were 0.16 mm and 0.14 mm with scan times of 14.7 s and 26.9 s, respectively. CONCLUSIONS: When using small voxel sizes, the scan time does not have a significant impact on image accuracy and therefore the scan time can be shortened. However, for larger voxel sizes, shorter scan times can lead to increased inaccuracy.
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Tomografia Computadorizada de Feixe Cônico/métodos , Imageamento Tridimensional/métodos , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Crânio/diagnóstico por imagem , Cadáver , Simulação por Computador , Humanos , Software , Fatores de TempoRESUMO
Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. Recently, mutations in the gene encoding the enzyme asparagine synthetase (ASNS) were associated to microcephaly and so far 24 different mutations in ASNS causing microcephaly have been described. In a family with two affected girls, we identified novel compound heterozygous variants in ASNS (c.1165G > C, p.E389Q and c.601delA, p.M201Wfs∗28). The first mutation (E389Q) is a missense mutation resulting in the replacement of a glutamate residue evolutionary conserved from Escherichia coli to Homo sapiens by glutamine. Protein modeling based on the known crystal structure of ASNS of E. coli predicted a destabilization of the protein by E389Q. The second mutation (p.M201Wfs∗28) results in a premature stop codon after amino acid 227, thereby truncating more than half of the protein. The novel variants expand the growing list of microcephaly causing mutations in ASNS.
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This study investigated task-related changes of EEG alpha power while participants were imagining creative moves in soccer decision-making situations. After presenting brief video clips of a soccer scene, participants had to imagine themselves as the acting player and to think either of a creative/original or an obvious/conventional move (control condition) that might lead to a goal. Performance of the soccer task generally elicited comparatively strong alpha power decreases at parietal and occipital sites, indicating high visuospatial processing demands. This power decrease was less pronounced in the creative vs. control condition, reflecting a more internally oriented state of information processing characterized by more imaginative mental simulation rather than stimulus-driven bottom-up processing. In addition, more creative task performance in the soccer task was associated with stronger alpha desynchronization at left cortical sites, most prominently over motor related areas. This finding suggests that individuals who generated more creative moves were more intensively engaged in processes related to movement imagery. Unlike the domain-specific creativity measure, individual's trait creative potential, as assessed by a psychometric creativity test, was globally positively associated with alpha power at all cortical sites. In investigating creative processes implicated in complex creative behavior involving more ecologically valid demands, this study showed that thinking creatively in soccer decision-making situations recruits specific brain networks supporting processes related to visuospatial attention and movement imagery, while the relative increase in alpha power in more creative conditions and in individuals with higher creative potential might reflect a pattern relevant across different creativity domains.
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Encéfalo/fisiologia , Criatividade , Tomada de Decisões/fisiologia , Imaginação/fisiologia , Movimento/fisiologia , Futebol/psicologia , Adulto , Atenção , Mapeamento Encefálico , Eletroencefalografia , Humanos , Masculino , Psicometria , Desempenho Psicomotor , Análise e Desempenho de Tarefas , Adulto JovemRESUMO
Kidney stone disease is an increasingly prevalent condition with remarkable clinical heterogeneity, with regards to stone composition, age of manifestation, rate of recurrence, and impairment of kidney function. Calcium-based kidney stones account for the vast majority of cases, but their etiology is poorly understood, notably their genetic drivers. As recent studies indicate, hereditary conditions are most likely underestimated in prevalence, and new disease genes are constantly being identified. As a consequence, there is an urgent need of a more efficient documentation and collection of cases with underlying hereditary conditions, to better understand shared phenotypic presentation and common molecular mechanisms. By implementation of a centralized patient registry on hereditary kidney stone disease in Germany, we aim to help closing the vast knowledge gap on genetics of kidney stone disease. In this context, clinical registries are indispensable for several reasons: first, delineating better phenotype-genotype associations will allow more precise patient stratification in future clinical research studies. Second, identifying new disease genes and new mechanisms will further reduce the rate of unknown nephrolithiasis/nephrocalcinosis etiology; and third, deciphering new molecular targets will pave the way to develop drugs for recurrence prevention in severely affected families.
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PURPOSE: Advanced imaging modalities, such as multi-slice computed tomography (MSCT) and cone beam computed tomography (CBCT), greatly facilitate diagnostic medicine. In radiological research, it is important to know how accurately a scanned object is visualized, and whether the methodology leads to image distortion. The objective of this study was to evaluate whether formalin fixation impacted the accuracy of virtual 3D bone models generated via CBCT and MSCT using a software-based evaluation method that excluded human measurement errors. METHODS: A head specimen, with and without formalin preservation, was subjected to MSCT and CBCT scans using the manufacturers' predefined scanning protocols. Digital models of the lower jaw were constructed and superimposed with a master model generated based on optical scanning with an industrial non-contact scanner. Means and standard deviations were calculated to assess accuracy, and a t test was used for comparisons between the fixed and unfixed specimens. RESULTS: The extent of discrepancy between the fixed and unfixed specimens was analyzed using a total of 200 points (n = 200) in each specimen state. The mean deviation between states was 0.01 mm for MSCT (at both 80 and 140 kV). Mean values from CBCT at 0.4 voxel did not differ between states. CONCLUSIONS: Our results suggest that formalin fixation of an anatomical specimen does not substantially affect the accuracy of a three-dimensional image generated with CBCT and MSCT. Thus, fixed specimen can be used in future investigations of 3D models without concerns regarding the accuracy.