Evaluation of deep learning algorithms in detecting moyamoya disease: a systematic review and single-arm meta-analysis.

The diagnosis of Moyamoya disease (MMD) relies heavily on imaging, which could benefit from standardized machine learning tools. This study aims to evaluate the diagnostic efficacy of deep learning (DL) algorithms for MMD by analyzing sensitivity, specificity, and the area under the curve (AUC) compared to expert consensus. We conducted a systematic search of PubMed, Embase, and Web of Science for articles published from inception to February 2024. Eligible studies were required to report diagnostic accuracy metrics such as sensitivity, specificity, and AUC, excluding those not in English or using traditional machine learning methods. Seven studies were included, comprising a sample of 4,416 patients, of whom 1,358 had MMD. The pooled sensitivity for common and random effects models was 0.89 (95% CI: 0.85 to 0.92) and 0.92 (95% CI: 0.85 to 0.96), respectively. The pooled specificity was 0.89 (95% CI: 0.86 to 0.91) in the common effects model and 0.91 (95% CI: 0.75 to 0.97) in the random effects model. Two studies reported the AUC alongside their confidence intervals. A meta-analysis synthesizing these findings aggregated a mean AUC of 0.94 (95% CI: 0.92 to 0.96) for common effects and 0.89 (95% CI: 0.76 to 1.02) for random effects models. Deep learning models significantly enhance the diagnosis of MMD by efficiently extracting and identifying complex image patterns with high sensitivity and specificity. Trial registration: CRD42024524998 https://www.crd.york.ac.uk/prospero/displayrecord.php?RecordID=524998.

Models for predicting coffee yield from chemical characteristics of soil and leaves using machine learning.

BACKGROUND: Coffee farming constitutes a substantial economic resource, representing a source of income for several countries due to the high consumption of coffee worldwide. Precise management of coffee crops involves collecting crop attributes (characteristics of the soil and the plant), mapping, and applying inputs according to the plants' needs. This differentiated management is precision coffee growing and it stands out for its increased yield and sustainability. RESULTS: This research aimed to predict yield in coffee plantations by applying machine learning methodologies to soil and plant attributes. The data were obtained in a field of 54.6 ha during two consecutive seasons, applying varied fertilization rates in accordance with the recommendations of soil attribute maps. Leaf analysis maps also were monitored with the aim of establishing a correlation between input parameters and yield prediction. The machine-learning models obtained from these data predicted coffee yield efficiently. The best model demonstrated predictive fit results with a Pearson correlation of 0.86. Soil chemical attributes did not interfere with the prediction models, indicating that this analysis can be dispensed with when applying these models. CONCLUSION: These findings have important implications for optimizing coffee management and cultivation, providing valuable insights for producers and researchers interested in maximizing yield using precision agriculture. © 2024 Society of Chemical Industry.

Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil.

Neonatal diabetes mellitus (NDM) is defined as the occurrence of severe hyperglycemia in infants under 6 months old and may be permanent (PNDM) or transient (TNDM). When diabetes is diagnosed at 6-12 months of age (early onset diabetes [EOD]), the etiology may be monogenic; however, most cases consist of type 1 diabetes mellitus (T1DM). Molecular diagnosis was determined in a cohort of 35 unrelated Brazilian patients with NDM or EOD based on targeted next-generation sequencing panel and/or chromosome 6q24 abnormalities. The impact of genetic testing on treatment and follow-up was evaluated. Overall, 24 patients had NDM: with 18 (75.0%) having PNDM, 5 TNDM (20.8%) and 1 case in which this information was unknown. Eleven patients had EOD. Genetic testing was positive in 20/24 patients with NDM (83.3%) and in 18.2% of cases of EOD. The commonest causes were ATP-sensitive potassium (KATP) channel genes, and GCK and IPEX mutations (37.1%, 11.4% and 5.7%, respectively). Patients with PNDM due to KCNJ11 and ABCC8 mutations transitioned successfully to sulfonylureas in almost 60% of cases, reinforcing the benefit of performing genetic testing in NDM as early as possible. This report refers to the largest series of cases of NDM (TNDM and PNDM) and EOD in Brazil in which patients were submitted to molecular investigation and in which the clinical impact of genetic diagnosis was also evaluated.

State of the Art and Future Perspectives of Atmospheric Chemical Sensing Using Unmanned Aerial Vehicles: A Bibliometric Analysis.

In recent years, unmanned aerial vehicles (UAVs) have been increasingly used to monitor and assess air quality. The interest in the application of UAVs in monitoring air pollutants and greenhouse gases is evidenced by the recent emergence of sensors with the most diverse specifications designed for UAVs or even UAVs designed with integrated sensors. The objective of this study was to conduct a comprehensive review based on bibliometrics to identify dynamics and possible trends in scientific production on UAV-based sensors to monitor air quality. A bibliometric analysis was carried out in the VOSViewer software (version 1.6.17) from the Scopus and Web of Science reference databases in the period between 2012 and 2022. The main countries, journals, scientific organizations, researchers and co-citation networks with greater relevance for the study area were highlighted. The literature, in general, has grown rapidly and has attracted enormous attention in the last 5 years, as indicated by the increase in articles after 2017. It was possible to notice the rapid development of sensors, resulting in smaller and lighter devices, with greater sensitivity and capacity for remote work. Overall, this analysis summarizes the evolution of UAV-based sensors and their applications, providing valuable information to researchers and developers of UAV-based sensors to monitor air pollutants.

Theoretical investigation of the cooperative effect of solvent: a case study.

The effect of solvent was investigated at the DFT level, M06-2X/6-31++G(d,p), for the implicit, namely the universal solvent model based on solute electron density (SMD) and hybrid solvation models, and a new pathway for the Markovnikov for the addition of HCl to 1-butene was suggested, incorporating the solvent in the reaction. The results showed that the use of implicit solvent brings greater stabilization for a large part of the reaction coordinates and for the charges of the transition states (TS). Studying the hybrid solvent model, it was shown by quantum mechanics and molecular simulations that although the first solvation shell is composed of approximately 30 solvent molecules, most of the effect comes from just eight solvent molecules explicitly added, with a variation in energy that tends to about -19.3 kJ mol-1. The reaction rates for the hydration of 1-butene were only able to achieve a reasonable accuracy with the addition of three explicit solvent molecules of 5.97 × 10-8 M-1 s-1 and 2.33 × 10-9 M-1 s-1 for the calculated and the experimental values, respectively. This indicates that not only hybrid solvation may be required, but also the number of explicit molecules added may heavily influence the calculated reaction rates. It was found that for the intermediary product of hydration the hydrogen bonds are stronger than average, suggesting a partial covalent characteristic.

Antiinflammatory and antiinfective effect of caffeine in a mouse model of disseminated salmonellosis.

Caffeine has been reported for its antiinflammatory properties by stimulating phagocytosis. In this study, we investigated the antiinflammatory and antiinfective potential of caffeine in murine macrophage cell cultures and Swiss mice infected with virulent Salmonella enterica serotype typhimurium. Peritoneal macrophages (pMØ) were treated with caffeine on 96-well plates for 24 hr and then infected with Salmonella for 4 hr. In another experiment, the pMØ were first infected with the bacterium for 4 hr and then treated with caffeine for 24 hr. In addition, Swiss mice were inoculated, intraperitoneally, with S. typhimurium and then received caffeine intravenously. Control groups received phosphate-buffered saline (PBS) or dexamethasone. We found that treatments with caffeine increased the macrophage cell viability and reduced the intracellular bacterial load. The administration of caffeine to Swiss mice reduced the infiltration of leukocytes into the peritoneal cavity after the bacterial challenge. Furthermore, the bacterial burdens in the peritoneal fluid, bloodstream, spleen, and liver were decreased by caffeine treatment. The expression levels of tumor necrosis factor-alpha (TNF-α), interleukin-1ß (IL-1ß), IL-6, and inducible nitric oxide synthase (iNOs) were down-regulated after infection in caffeine-treated mice. We can conclude that caffeine has both antiinflammatory and antiinfective properties that can be useful for management of bacterial infections along with antibiotics.

Structural, inorganic, and adsorptive properties of hydrochars obtained by hydrothermal carbonization of coffee waste.

The hydrothermal carbonization process is a suitable process for the conversion of potentially harmful lignocellulosic waste into hydrochars. Defective coffee beans were the precursor raw material for hydrochar synthesis. Reactions were performed in a high-pressure reactor at 150, 200, and 250 °C, in autogenous pressure, for 40 min. Hydrochars were recovered by filtration and characterized by energy dispersive X-ray fluorescence spectroscopy, UV-Vis spectrophotometry, attenuated total reflection Fourier-transform infrared spectroscopy, differential thermal analysis, and scanning electron microscopy. Methylene blue adsorption tests were performed and analyzed by Langmuir and Freundlich adsorption isotherms. Adsorption mechanisms were investigated by computational calculations at DFT level. Results suggest that hydrochars from defective coffee beans can be applied as technological resources in the agronomic and environmental fields due to their inorganic composition, mainly to high magnesium content, the structural characteristics of porosity, biodegradation control, soil carbon-fixation and adsorption capacity. Important adsorption processes are caused by the development of oxygenated functional groups on the hydrochar surface.

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.

STUDY QUESTION: Is there an (epi)genetic basis in patients with central precocious puberty (CPP) associated with multiple anomalies that unmasks underlying mechanisms or reveals novel genetic findings related to human pubertal control? SUMMARY ANSWER: In a group of 36 patients with CPP associated with multiple phenotypes, pathogenic or likely pathogenic (epi)genetic defects were identified in 12 (33%) patients, providing insights into the genetics of human pubertal control. WHAT IS KNOWN ALREADY: A few studies have described patients with CPP associated with multiple anomalies, but without making inferences on causalities of CPP. Genetic-molecular studies of syndromic cases may reveal disease genes or mechanisms, as the presentation of such patients likely indicates a genetic disorder. STUDY DESIGN, SIZE, DURATION: This translational study was based on a genetic-molecular analysis, including genome-wide high throughput methodologies, for searching structural or sequence variants implicated in CPP and DNA methylation analysis of candidate regions. PARTICIPANTS/MATERIALS, SETTING, METHODS: A cohort of 197 patients (188 girls) with CPP without structural brain lesions was submitted to a detailed clinical evaluation, allowing the selection of 36 unrelated patients (32 girls) with CPP associated with multiple anomalies. Pathogenic allelic variants of genes known to cause monogenic CPP (KISS1R, KISS1, MKRN3 and DLK1) had been excluded in the entire cohort (197 patients). All selected patients with CPP associated with multiple anomalies (n = 36) underwent methylation analysis of candidate regions and chromosomal microarray analysis. A subset (n = 9) underwent whole-exome sequencing, due to presenting familial CPP and/or severe congenital malformations and neurocognitive abnormalities. MAIN RESULTS AND THE ROLE OF CHANCE: Among the 36 selected patients with CPP, the more prevalent associated anomalies were metabolic, growth and neurocognitive conditions. In 12 (33%) of them, rare genetic abnormalities were identified: six patients presented genetic defects in loci known to be involved with CPP (14q32.2 and 7q11.23), whereas the other six presented defects in candidate genes or regions. In detail, three patients presented hypomethylation of DLK1/MEG3:IG-DMR (14q32.2 disruption or Temple syndrome), resulting from epimutation (n = 1) or maternal uniparental disomy of chromosome 14 (n = 2). Seven patients presented pathogenic copy number variants: three with de novo 7q11.23 deletions (Williams-Beuren syndrome), three with inherited Xp22.33 deletions, and one with de novo 1p31.3 duplication. Exome sequencing revealed potential pathogenic variants in two patients: a sporadic female case with frameshift variants in TNRC6B and AREL1 and a familial male case with a missense substitution in UGT2B4 and a frameshift deletion in MKKS. LIMITATIONS, REASONS FOR CAUTION: The selection of patients was based on a retrospective clinical characterization, lacking a longitudinal inclusion of consecutive patients. In addition, future studies are needed, showing the long-term (mainly reproductive) outcomes in the included patients, as most of them are not in adult life yet. WIDER IMPLICATIONS OF THE FINDINGS: The results highlighted the relevance of an integrative clinical-genetic approach in the elucidation of mechanisms and factors involved in pubertal control. Chromosome 14q32.2 disruption indicated the loss of imprinting of DLK1 as a probable mechanism of CPP. Two other chromosomal regions (7q11.23 and Xp22.33) represented new candidate loci potentially involved in this disorder of pubertal timing. STUDY FUNDING/COMPETING INTEREST(S): This work was supported by grant number 2018/03198-0 (to A.P.M.C.) and grant number 2013/08028-1 (to A.C.V.K) from the São Paulo Research Foundation (FAPESP), and grant number 403525/2016-0 (to A.C.L.) and grant number 302849/2015-7 (to A.C.L.) and grant number 141625/2016-3 (to A.C.V.K) from the National Council for Scientific and Technological Development (CNPq). The authors have nothing to disclose. TRIAL REGISTRATION NUMBER: N/A.

Incremental or maximal mandibular advancement in the treatment of class II malocclusion through functional appliances: A systematic review with meta-analysis.

To systematically review the effects of functional appliances (FA) using incremental vs maximal mandibular advancement regarding cephalometric measurements in class II malocclusion individuals and to assess patient-centred-outcomes. Six electronic databases were searched without restrictions up to April 2020. We included randomized and non-randomized controlled trials using identical FA. Trials involving participants who used adjunct appliances, inter-maxillary elastics, who received surgical treatment or that recruited individuals with cleft lip/palate or craniofacial deformity/syndrome were excluded. Risks of bias assessments were performed using the Cochrane risk of bias tool-2 and ROBINS-I tools. Mean differences (MD) with their 95% confidence intervals were calculated from random-effects meta-analyses. The GRADE tool was used to assess the certainty of the evidence. Six studies were included. Low to very low certainty of evidence indicated that incremental mandibular advancement resulted in greater gains in mandibular length (MD = 0.89 [0.38, 1.34], P = .0005), anterior mandibular displacement (MD = 0.73 [0.40, 1.06], P < .0001) and SNB angle (MD = 0.44 [0.02, 0.85], P = .04). No significant differences were found for maxillary, dento-alveolar and upper airway outcomes between construction bite protocols (P > .05). Study design and appliance-related factors influenced the results of the subgroup analyses. Existing evidence is inadequate to assess patient-related response and long-term outcome could not be assessed. Currently, there are a heterogeneous number of studies with low quality and methodological issues can lead to biases that strongly limit an evidence-based conclusion. Weak evidence suggests gains in mandibular skeletal parameters in the short term using FA with incremental mandibular advancement. Randomized trials evaluating key topics such as patient-centred outcomes need to be conducted to guide clinical management. PROSPERO (CRD42019147436).

Effects of lip bumper therapy on the mandibular arch dimensions of children and adolescents: A systematic review.

INTRODUCTION: The aim of this systematic review was to identify, evaluate, and provide a synthesis of the available literature on the effects of lip bumper (LB) therapy on the mandibular dental arch of children and adolescents. METHODS: MEDLINE, Scopus, Web of Science, Cochrane Library, and Lilacs were systematically searched without restrictions up to May 2019. Risk-of-bias assessment was performed using Cochrane's tool for randomized controlled trials (RCTs) and the Risk of Bias in Nonrandomized Studies of Interventions tool for non-RCTs. The Grading of Recommendations, Assessment, Development and Evaluation tool was used to assess the quality of the evidence. RESULTS: After examination of the full texts, 6 studies were included. One RCT presented unclear risk of bias, and 5 non-RCTs presented serious to moderate risk of bias. LB therapy resulted in a buccal inclination of the incisors, distalization of the permanent first molars, and distal inclination of the permanent first molars, which increased perimeter and arch length. An increase in the arch width with greater gain in the interpremolar and/or deciduous molar distance and less gain in intercanine and intermolar distances was also reported. LB therapy increased the risk of second molar impaction with inclination >30° and the risk of ectopic eruption when treatment time was >2 years. The level of the evidence was graded as very low for variable arch length and second molar eruption disturbances. All other outcomes were graded as having low level of evidence. CONCLUSIONS: Owing to the low level of certainty identified, the conclusions should be considered cautiously. Increase in arch perimeter and width was attributed to the proclination of the incisors, buccalization of the deciduous molar and premolar areas, and distal inclination of the molars. However, there was an increased chance of impaction and ectopic eruption of permanent second molar after treatment with LB.

Evaluation of SHOX defects in the era of next-generation sequencing.

Short stature homeobox (SHOX) haploinsufficiency is a frequent cause of short stature. Despite advances in sequencing technologies, the identification of SHOX mutations continues to be performed using standard methods, including multiplex ligation-dependent probe amplification (MLPA) followed by Sanger sequencing. We designed a targeted panel of genes associated with growth impairment, including SHOX genomic and enhancer regions, to improve the resolution of next-generation sequencing for SHOX analysis. We used two software packages, CONTRA and Nexus Copy Number, in addition to visual analysis to investigate the presence of copy number variants (CNVs). We evaluated 15 patients with previously known SHOX defects, including point mutations, deletions and a duplication, and 77 patients with idiopathic short stature (ISS). The panel was able to confirm all known defects in the validation analysis. During the prospective evaluation, we identified two new partial SHOX deletions (one detected only by visual analysis), including an intragenic deletion not detected by MLPA. Additionally, we were able to determine the breakpoints in four cases. Our results show that the designed panel can be used for the molecular investigation of patients with ISS, and it may even detect CNVs in SHOX and its enhancers, which may be present in a significant fraction of patients.

Validation of Mycobacterium tuberculosis real-time polymerase chain reaction for diagnosis of tuberculous meningitis using cerebrospinal fluid samples: a pilot study.

Background Timely diagnosis of tuberculous meningitis (TBM) remains challenging. Molecular diagnostic tools are necessary, particularly in low- and middle-income countries. There is no approved commercial polymerase chain reaction (PCR) assay that can be used to detect Mycobacterium tuberculosis in non-respiratory samples, such as the cerebrospinal fluid (CSF). We aimed to validate the threshold cycle (Ct) cut-off points; calculate the operational characteristics of real-time PCR for detection of M. tuberculosis (MTb qPCR) in the CSF; and the inhibitory affect of CSF red blood cells (RBC) and total proteins on MTb qPCR. Methods A total of 334 consecutive participants were enrolled. Based on clinical, laboratory and imaging data, cases of suspected TBM were categorized as definite, probable, possible or not TBM cases. Receiver operating characteristic curve analysis was used to select the best discriminating Ct value. Results For TBM cases categorized as definite or probable (n=21), the Ct validated for CSF (≤39.5) improved the diagnostic performance of MTb qPCR on CSF samples. The sensitivity was 29%, specificity was 95%, positive predictive value was 26%, negative predictive value was 95%, efficiency was 90% and positive likelihood was 5.3. The CSF RBC and total protein did not affect the positivity of the MTb qPCR. Conclusions These data support the validation of a highly specific but low sensitive MTb qPCR assay for the TBM diagnosis using CSF samples. MTb qPCR contributes significantly to the diagnosis, mainly when associated with conventional microbiology tests and clinical algorithms.