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PURPOSE: To analyze the upper eyelid contour after Müller's muscle conjunctiva resection (MMCR) performed by four different surgeons. METHODS: Comparative cross-sectional analysis of the pre- and postoperative contours of a control group and four groups of upper lids (n = 88) of 65 patients who underwent MMCR at four international centers. The procedure employed was essentially the same as described by Putterman but performed with different instruments to entrap the posterior lamella. Multiple medial and lateral margin lid distances were measured on Bézier lines expressing the pre- and postoperative lid contours. RESULTS: Preoperatively, two groups had significant lateral and medial ptosis. After MMCR, the lateral segment of the lid's contour was corrected in all groups. In the two groups with more pronounced ptosis, the nasal lid contour was undercorrected. CONCLUSIONS: In MMCR, regardless of the instrument used to entrap the posterior lamella, the amount of medial tissue resection is essential to avoid postoperative nasal undercorrection. LEVEL OF EVIDENCE III: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .
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Type IB topoisomerases relax the torsional stress associated with DNA metabolism in the nucleus and mitochondria and constitute important molecular targets of anticancer drugs. Vertebrates stand out among eukaryotes by having two Type IB topoisomerases acting specifically in the nucleus (TOP1) and mitochondria (TOP1MT). Despite their major importance, the origin and evolution of these paralogues remain unknown. Here, we examine the molecular evolutionary processes acting on both TOP1 and TOP1MT in Chordata, taking advantage of the increasing number of available genome sequences. We found that both TOP1 and TOP1MT evolved under strong purifying selection, as expected considering their essential biological functions. Critical active sites, including those associated with resistance to anticancer agents, were found particularly conserved. However, TOP1MT presented a higher rate of molecular evolution than TOP1, possibly related with its specialized activity on the mitochondrial genome and a less critical role in cells. We could place the duplication event that originated the TOP1 and TOP1MT paralogues early in the radiation of vertebrates, most likely associated with the first round of vertebrate tetraploidization (1R). Moreover, our data suggest that cyclostomes present a specialized mitochondrial Type IB topoisomerase. Interestingly, we identified two missense mutations replacing amino acids in the Linker region of TOP1MT in Neanderthals, which appears as a rare event when comparing the genome of both species. In conclusion, TOP1 and TOP1MT differ in their rates of evolution, and their evolutionary histories allowed us to better understand the evolution of chordates.
Subject(s)
Chordata , DNA, Mitochondrial , Animals , DNA, Mitochondrial/genetics , Chordata/genetics , DNA Topoisomerases, Type I/genetics , DNA Topoisomerases, Type I/chemistry , DNA Topoisomerases, Type I/metabolism , Mitochondria/genetics , Cell Nucleus/geneticsABSTRACT
BACKGROUND Rheumatoid arthritis (RA) can cause extra-articular manifestations, and the myocardium can be a target. This study aimed to describe structural and functional cardiac echocardiographic variables in RA patients and to evaluate whether vitamin D (VD) levels and inflammation markers, evaluated by Disease Activity Score-28 for Rheumatoid Arthritis with C-reactive protein (DAS28-CRP), are associated with cardiac remodeling (CR) in this population. MATERIAL AND METHODS This prospective observational study evaluated 90 patients with RA in Botucatu University Hospital wards from 2014 to 2017. Clinical data were recorded, including demographic information, comorbidities, length of disease, and treatment type. Serum VD and C-reactive protein levels were measured, and the DAS28-CRP was calculated. A transthoracic echocardiography study was performed. The outcome evaluated was CR. This parameter was assessed by left ventricular geometric patterns and left atrium diameter. RESULTS We evaluated 90 RA patients. The mean age was 52.9±10.8 years, and 17.8% were male. The length of the disease was 96 (60-180) months. Serum VD levels were 30.7±10.4 ng/mL and the DAS28 was 2.7±0.9. Regarding the CR parameters, 56.7% had altered left ventricular geometric patterns and 25.8% had enlargement of left atrium diameter. Even in multivariate analysis, the left ventricular geometric patterns were not associated with the VD levels and the inflammation marker used. However, sufficient VD levels protect from left atrium enlargement (OR: 0.905; IC 95%: 0.843-0.973; P=0.007). CONCLUSIONS Low serum vitamin D values, but not inflammation, are associated with CR in patients with RA.
Subject(s)
Arthritis, Rheumatoid , C-Reactive Protein , Humans , Male , Adult , Middle Aged , Female , C-Reactive Protein/metabolism , Ventricular Remodeling , Arthritis, Rheumatoid/drug therapy , Inflammation/drug therapy , Vitamin D , Heart Atria/diagnostic imaging , Heart Atria/metabolism , Severity of Illness IndexABSTRACT
"Industry 5.0" is the latest industrial revolution. A variety of cutting-edge technologies, including artificial intelligence, the Internet of Things (IoT), and others, come together to form it. Billions of devices are connected for high-speed data transfer, especially in a 5G-enabled industrial environment for information collection and processing. Most of the issues, such as access control mechanism, time to fetch the data from different devices, and protocols used, may not be applicable in the future as these protocols are based upon a centralized mechanism. This centralized mechanism may have a single point of failure along with the computational overhead. Thus, there is a need for an efficient decentralized access control mechanism for device-to-device (D2D) communication in various industrial sectors, for example, sensors in different regions may collect and process the data for making intelligent decisions. In such an environment, reliability, security, and privacy are major concerns as most of the solutions are based upon a centralized control mechanism. To mitigate the aforementioned issues, this paper provides the opportunities for and highlights some of the most impressive initiatives that help to curve the future. This new era will bring about significant changes in the way businesses operate, allowing them to become more cost-effective, more efficient, and produce higher-quality goods and services. As sensors are getting more accurate, cheaper, and have lower time responses, 5G networks are being integrated, and more industrial equipment and machinery are becoming available; hence, various sectors, including the manufacturing sector, are going through a significant period of transition right now. Additionally, the emergence of the cloud enables modern production models that use the cloud (both internal and external services), networks, and systems to leverage the cloud's low cost, scalability, increased computational power, real-time communication, and data transfer capabilities to create much smarter and more autonomous systems. We discuss the ways in which decentralized networks that make use of protocols help to achieve decentralization and how network meshes can grow to make things more secure, reliable, and cohere with these technologies, which are not going away anytime soon. We emphasize the significance of new design in regard to cybersecurity, data integrity, and storage by using straightforward examples that have the potential to lead to the excellence of distributed systems. This groundbreaking paper delves deep into the world of industrial automation and explores the possibilities to adopt blockchain for developing solutions for smart cities, smart homes, healthcare, smart agriculture, autonomous vehicles, and supply chain management within Industry 5.0. With an in-depth examination of various consensus mechanisms, readers gain a comprehensive understanding of the latest developments in this field. The paper also explores the current issues and challenges associated with blockchain adaptation for industrial automation and provides a thorough comparison of the available consensus, enabling end customers to select the most suitable one based on its unique advantages. Case studies highlight how to enable the adoption of blockchain in Industry 5.0 solutions effectively and efficiently, offering valuable insights into the potential challenges that lie ahead, particularly for smart industrial applications.
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PROBLEM: Changes in the ventilation demand nursing interventions duly adapted to the management of said impairment and to the adaptability of the child/parents. This revision aimed to investigate the evidence behind the interventions performed on children with impaired ventilation.' ELIGIBILITY CRITERIA: Systematic reviews of literature in English, Spanish, French, and Portuguese from studies on nursing interventions related to children with impaired ventilation in all contexts of the clinical practice. The Joanna Briggs Institute recommendations were followed. SAMPLE: We conducted a comprehensive search as of January 2022 and updated as of June 2023. The following electronic databases were searched: SCOPUS, Web of Science, Joanna Briggs Institute Database of Systematic Reviews and Implementation Reports, MEDLINE (via PubMed), CINAHL (via EBSCO), MedicLatina (via EBSCO), The Cochrane Database of Systematic Reviews (via EBSCO), and Database of Abstracts of Reviews of Effects (DARE). Nineteen articles published between 2012 and 2022 were included in this review. RESULTS: Nineteen studies investigated the efficacy of respiratory exercises (Breathing Control - relaxed breathing, pursed lip breathing, Diaphragmatic breathing exercises, respiratory expansion exercise - deep breathing exercise, thoracic expansion exercises (with device), exercises for respiratory muscle strengthening and position to optimize ventilation. In the majority of the studies, it was not possible to evaluate the interventions separately. Thirteen studies evidenced the efficacy of respiratory exercises, BIPAP, and oxygen therapy. Seven articles demonstrated the effectiveness of respiratory muscle-strengthening exercises, and only three mentioned the efficacy of positioning regarding impaired ventilation. Interventions based on respiratory exercises and respiratory muscle training were the most common ones. CONCLUSIONS: The results suggest that nursing interventions to optimize ventilation are efficient. Nevertheless, the same present a low to moderate evidence degree, justified by the population characteristics (small and heterogeneous). IMPLICATIONS: There is proof of evidence for the studied interventions. However, the lack of methodological robustness points to future research to duly describe interventions, data, and comparable results, using reliable samples in which the focus of the study is clear.
Subject(s)
Breathing Exercises , Exercise Therapy , Child , Humans , Breathing Exercises/methods , Exercise , Systematic Reviews as TopicABSTRACT
Maritime transport is considered a sustainable mean of transporting goods worldwide. In addition to cargo, ships unintentionally transport non-native species. While managing the transport of organisms through ballast water has been at the centre of international efforts, biofouling from ships has not been addressed in the same way and some potentially harmful practices, such as in-water cleaning, still occur worldwide. Another problem arising from ship operating standards is the equipment known as "open-loop scrubbers," which utilizes seawater to "wash" the sulfur content out of the heavy fuel oil (HFO) and, in turn, discharges an acidic wash water full of sulfur and other substances from fuel oils in the environment. Here, we compare the international regulations applied to both issues and how they have been implemented in Brazil so far, considering the perspective of ports and terminals. Results showed that six of sixteen states have already imposed restrictions/bans on scrubbers wash waters, indicating a clear movement in the direction of restricting the discharge as the best way to prevent air and marine pollution. Regarding biofouling, although there is hope with the adoption of the revised guidelines, there are still some doubts considering these are non-binding, depending on national policies to be implemented. In Brazil, there is no national policy yet, and all public ports prohibit vessels in-water cleaning.
Subject(s)
Biofouling , Biofouling/prevention & control , Water , Brazil , Environmental Monitoring , Ships , SulfurABSTRACT
AIMS: This study aims to (1) analyse all self-care-related interventions Portuguese nurses documented, (2) determine potential issues that may impair semantic interoperability and (3) propose a new set of interventions representing nursing actions regarding self-care that may integrate any HER application. BACKGROUND: As populations age and chronic diseases increase, self-care concerns rise. Individuals who seek healthcare, regardless of context, need prompt access to accurate health information. Healthcare professionals need to understand the information in all places where care is provided, creating the need for semantic interoperability within electronic health records. METHODS: A qualitative descriptive and exploratory study was conducted in two phases: (1) a content analysis of nursing interventions e-documentation and (2) a focus group with fifteen registered nurses exploring latent criteria or insights gleaned from the findings of content analysis. The COREQ statement was used to guide research reporting. RESULTS: We extracted 1529 nursing intervention sentences from the electronic health records and created 209 intervention categories. We identified the main issues with semantic interoperability in nursing intervention identification. CONCLUSION: According to the findings, nurses cooperate with clients, offering physical aid and encouraging them to overcome functional limitations to self-care tasks hampered by their conditions. IMPLICATIONS FOR NURSING POLICY AND HEALTH POLICY: This article provides evidence to warn policy makers against decisions to use locally customised electronic health records, as well as evidence on the importance of policy promoting the adoption of a nursing ontology for electronic health records. And, as a result, the harmonisation and effective provision of high-quality nursing care and the reduction of healthcare costs across nations.
Subject(s)
Electronic Health Records , Self Care , Humans , Delivery of Health Care , Qualitative Research , Focus Groups , Nursing RecordsABSTRACT
TOPIIA topoisomerases are required for the regulation of DNA topology by DNA cleavage and re-ligation and are important targets of antibiotic and anticancer agents. Humans possess two TOPIIA paralogue genes (TOP2A and TOP2B) with high sequence and structural similarity but distinct cellular functions. Despite their functional and clinical relevance, the evolutionary history of TOPIIA is still poorly understood. Here we show that TOPIIA is highly conserved in Metazoa. We also found that TOPIIA paralogues from jawed and jawless vertebrates had different origins related with tetraploidization events. After duplication, TOP2B evolved under a stronger purifying selection than TOP2A, perhaps promoted by the more specialized role of TOP2B in postmitotic cells. We also detected genetic signatures of positive selection in the highly variable C-terminal domain (CTD), possibly associated with adaptation to cellular interactions. By comparing TOPIIA from modern and archaic humans, we found two amino acid substitutions in the TOP2A CTD, suggesting that TOP2A may have contributed to the evolution of present-day humans, as proposed for other cell cycle-related genes. Finally, we identified six residues conferring resistance to chemotherapy differing between TOP2A and TOP2B. These six residues could be targets for the development of TOP2A-specific inhibitors that would avoid the side effects caused by inhibiting TOP2B. Altogether, our findings clarify the origin, diversification and selection pressures governing the evolution of animal TOPIIA.
Subject(s)
Antigens, Neoplasm , DNA-Binding Proteins , Animals , Antigens, Neoplasm/genetics , DNA , DNA-Binding Proteins/geneticsABSTRACT
By their paternal transmission, Y-chromosomal haplotypes are sensitive markers of population history and male-mediated introgression. Previous studies identified biallelic single-nucleotide variants in the SRY, ZFY and DDX3Y genes, which in domestic goats identified four major Y-chromosomal haplotypes, Y1A, Y1B, Y2A and Y2B, with a marked geographical partitioning. Here, we extracted goat Y-chromosomal variants from whole-genome sequences of 386 domestic goats (75 breeds) and seven wild goat species, which were generated by the VarGoats goat genome project. Phylogenetic analyses indicated domestic haplogroups corresponding to Y1B, Y2A and Y2B, respectively, whereas Y1A is split into Y1AA and Y1AB. All five haplogroups were detected in 26 ancient DNA samples from southeast Europe or Asia. Haplotypes from present-day bezoars are not shared with domestic goats and are attached to deep nodes of the trees and networks. Haplogroup distributions for 186 domestic breeds indicate ancient paternal population bottlenecks and expansions during migrations into northern Europe, eastern and southern Asia, and Africa south of the Sahara. In addition, sharing of haplogroups indicates male-mediated introgressions, most notably an early gene flow from Asian goats into Madagascar and the crossbreeding that in the 19th century resulted in the popular Boer and Anglo-Nubian breeds. More recent introgressions are those from European goats into the native Korean goat population and from Boer goat into Uganda, Kenya, Tanzania, Malawi and Zimbabwe. This study illustrates the power of the Y-chromosomal variants for reconstructing the history of domestic species with a wide geographical range.
Subject(s)
DNA, Mitochondrial , Genetic Variation , Animals , DNA, Mitochondrial/genetics , Goats/genetics , Haplotypes/genetics , Phylogeny , Y Chromosome/geneticsABSTRACT
Calcium is the most abundant extracellular cation in the body, and it is responsible for structural and enzymatic functions. Calcium homeostasis is regulated by 3 factors: calcitonin, vitamin D, and parathyroid hormone (PTH). Hypercalcemia is defined by a serum calcium concentration >10.5 mg/dL, and it is classified into mild, moderate, and severe, depending on calcium values. Most cases are caused by primary hyperparathyroidism and malignancies. Various mechanisms are involved in the pathophysiology of hypercalcemia, such as excessive PTH production, production of parathyroid hormone-related protein (PTHrp), bone metastasis, extrarenal activation of vitamin D, and ectopic PTH secretion. The initial approach is similar in most cases, but a definitive treatment depends on etiology, that is why etiological investigation is mandatory in all cases. The majority of patients are asymptomatic and diagnosed during routine exams; only a small percentage of patients present with severe manifestations which can affect neurological, muscular, gastrointestinal, renal, and cardiovascular systems. Clinical manifestations are related to calcium levels, with higher values leading to more pronounced symptoms. Critically ill patients should receive treatment as soon as diagnosis is made. Initial treatment involves vigorous intravenous hydration and drugs to reduce bone resorption such as bisphosphonates and, more recently, denosumab, in refractory cases; also, corticosteroids and calcitonin can be used in specific cases. This review aims to provide a clinical update on current concepts of the pathophysiology of calcium homeostasis, epidemiology, screening, clinical presentation, diagnosis, and management of hypercalcemia.
Subject(s)
Calcium/metabolism , Diagnostic Techniques, Digestive System , Disease Management , Early Diagnosis , Hypercalcemia/diagnosis , Humans , Hypercalcemia/blood , Hypercalcemia/therapyABSTRACT
INTRODUCTION: The Self-Care Dependency Evaluation Form assesses dependency in performing self-care activities, but its original version is extensive and provides redundant information. The present study aims to scrutinise the items of the scale with the purpose of creating a revised version and to evaluate its psychometric properties. METHODS: The study was conducted in two phases. In the first phase, an exploratory and correctional analysis of the items of the original form was performed from a database with 282 participants, followed by a review by a panel of experts who analysed the discriminatory ability and the contribution and relevance of each item, which resulted in the revised version. In the second phase, a new study with a sample comprising 150 participants was conducted to test the psychometric properties of the revised version. All ethical aspects and matters of confidentiality and privacy were assured. RESULTS: The scale with 27 items shows good internal consistency, ranging from 0.67 (taking medication) to 0.96 (walking). It was moderately correlated with the Barthel Index and the Lawton and Brody Scale, proven to be a discriminatory measurement instrument. DISCUSSION/CONCLUSION: This measure will enable health professionals to better evaluate self-care activities and provide more efficient, simple and effective prescriptions.
Subject(s)
Self Care , Self-Assessment , Health Personnel , Humans , Psychometrics , Reproducibility of Results , Surveys and QuestionnairesABSTRACT
The aim of this study is to evaluate whether the alterations in glucose metabolism and insulin resistance are mechanisms presented in cardiac remodelling induced by the toxicity of cigarette smoke. Male Wistar rats were assigned to the control group (C; n = 12) and the cigarette smoke-exposed group (exposed to cigarette smoke over 2 months) (CS; n = 12). Transthoracic echocardiography, blood pressure assessment, serum biochemical analyses for catecholamines and cotinine, energy metabolism enzymes activities assay; HOMA index (homeostatic model assessment); immunohistochemistry; and Western blot for proteins involved in energy metabolism were performed. The CS group presented concentric hypertrophy, systolic and diastolic dysfunction, and higher oxidative stress. It was observed changes in energy metabolism, characterized by a higher HOMA index, lower concentration of GLUT4 (glucose transporter 4) and lower 3-hydroxyl-CoA dehydrogenase activity, suggesting the presence of insulin resistance. Yet, the cardiac glycogen was depleted, phosphofructokinase (PFK) and lactate dehydrogenase (LDH) increased, with normal pyruvate dehydrogenase (PDH) activity. The activity of citrate synthase, mitochondrial complexes and ATP synthase (adenosine triphosphate synthase) decreased and the expression of Sirtuin 1 (SIRT1) increased. In conclusion, exposure to cigarette smoke induces cardiac remodelling and dysfunction. The mitochondrial dysfunction and heart damage induced by cigarette smoke exposure are associated with insulin resistance and glucose metabolism changes.
Subject(s)
Glucose/metabolism , Insulin Resistance , Smoking/adverse effects , Ventricular Remodeling , Animals , Catecholamines/blood , Cotinine/blood , Electrocardiography , Energy Metabolism , Male , Oxidative Stress , Rats, WistarABSTRACT
DNA topoisomerase III beta (TOP3B) is unique by operating on both DNA and RNA substrates to regulate gene expression and genomic stability. Mutations in human TOP3B are linked to neurodevelopmental and cognitive disorders, highlighting its relevance for human health. Despite the emerging importance of TOP3B, its precise cellular functions and evolutionary history remain poorly understood. Here, we show that TOP3B is conserved across main metazoan groups and evolved under strong purifying selection. Subdomain IV was identified as the most conserved TOP3B region, in agreement with its role in providing the structural foundation of the protein. On the contrary, subdomain II is the less conserved, possibly because it is the most structurally flexible region of all TOP3B regions. Interestingly, TOP3B residue at position 472, previously associated with schizophrenia, is highly variable across animals, suggesting a more specific role in humans and related species. Finally, we show that all TOP3B CXXC zinc finger motifs previously identified at the protein C-terminal region are retained across metazoans. We also found that the two major methylation sites known to regulate TOP3B activity are located in the most conserved region of the C-terminal arginine-glycine-glycine (RGG) box, suggesting that a similar regulatory mechanism may operate throughout animals. Overall, our results provide a better understanding of the evolution and functional roles of TOP3B.
Subject(s)
DNA Topoisomerases, Type I , Evolution, Molecular , Animals , DNA Topoisomerases, Type I/genetics , DNA Topoisomerases, Type I/metabolism , Humans , Mutation , Proteins/metabolismABSTRACT
The SARS-CoV-2 Variant of Concern 202012/01 (VOC-202012/01) emerged in southeast England and rapidly spread worldwide. This variant is believed to be more transmissible, with all attention being given to its spike mutations. However, VOC-202012/01 has also a mutation (Q27stop) that truncates the ORF8, a likely immune evasion protein. Removal of ORF8 changes the clinical outset of the disease, which may affect the virus transmissibility. Here I provide a detailed analysis of all reported ORF8-deficient lineages found in the background of relevant spike mutations, identified among 231,433 SARS-CoV-2 genomes. I found 19 ORF8 nonsense mutations, most of them occurring in the 5' half of the gene. The ORF8-deficient lineages were rare, representing 0.67% of sequenced genomes. Nevertheless, I identified two clusters of related sequences that emerged recently and spread in different countries. The widespread D614G spike mutation was found in most ORF-deficient lineages. Although less frequent, HV69-70del and L5F spike mutations occurred in the background of six different ORF8 nonsense mutations. I also confirmed that VOC-202012/01 is the ORF8-deficient variant with more spike mutations reported to date, although other variants could have up to six spike mutations, some of putative biological relevance. Overall, these results suggest that monitoring ORF8-deficient lineages is important for the progression of the COVID-19 pandemic, particularly when associated with relevant spike mutations.
Subject(s)
COVID-19/transmission , COVID-19/virology , Epidemiological Monitoring , Gene Deletion , SARS-CoV-2/genetics , Spike Glycoprotein, Coronavirus/genetics , Viral Proteins/genetics , COVID-19/epidemiology , Codon, Nonsense , Codon, Terminator/genetics , Evolution, Molecular , Genes, Viral/genetics , Humans , Phylogeny , SARS-CoV-2/pathogenicity , Selection, Genetic , Time Factors , United Kingdom/epidemiologyABSTRACT
Deletions in the 16.6 kb mitochondrial genome have been implicated in numerous disorders that often display muscular and/or neurological symptoms due to the high-energy demands of these tissues. We describe a catalogue of 4489 putative mitochondrial DNA (mtDNA) deletions, including their frequency and relative read rate, using a combinatorial approach of mitochondria-targeted PCR, next-generation sequencing, bioinformatics, post-hoc filtering, annotation, and validation steps. Our bioinformatics pipeline uses MapSplice, an RNA-seq splice junction detection algorithm, to detect and quantify mtDNA deletion breakpoints rather than mRNA splices. Analyses of 93 samples from postmortem brain and blood found (i) the 4977 bp 'common deletion' was neither the most frequent deletion nor the most abundant; (ii) brain contained significantly more deletions than blood; (iii) many high frequency deletions were previously reported in MitoBreak, suggesting they are present at low levels in metabolically active tissues and are not exclusive to individuals with diagnosed mitochondrial pathologies; (iv) many individual deletions (and cumulative metrics) had significant and positive correlations with age and (v) the highest deletion burdens were observed in major depressive disorder brain, at levels greater than Kearns-Sayre Syndrome muscle. Collectively, these data suggest the Splice-Break pipeline can detect and quantify mtDNA deletions at a high level of resolution.
Subject(s)
Computational Biology/methods , DNA, Mitochondrial/genetics , Depressive Disorder, Major/genetics , RNA Splice Sites/genetics , Sequence Analysis, RNA/methods , Sequence Deletion , Algorithms , Base Sequence , Brain/metabolism , Brain/pathology , DNA Breaks , DNA, Mitochondrial/chemistry , Depressive Disorder, Major/blood , Female , Humans , Male , Polymerase Chain ReactionABSTRACT
While traditional forensic genetics has been oriented towards using human DNA in criminal investigation and civil court cases, it currently presents a much wider application range, including not only legal situations sensu stricto but also and, increasingly often, to preemptively avoid judicial processes. Despite some difficulties, current forensic genetics is progressively incorporating the analysis of nonhuman genetic material to a greater extent. The analysis of this material-including other animal species, plants, or microorganisms-is now broadly used, providing ancillary evidence in criminalistics in cases such as animal attacks, trafficking of species, bioterrorism and biocrimes, and identification of fraudulent food composition, among many others. Here, we explore how nonhuman forensic genetics is being revolutionized by the increasing variety of genetic markers, the establishment of faster, less error-burdened and cheaper sequencing technologies, and the emergence and improvement of models, methods, and bioinformatics facilities.
Subject(s)
Bacteria/genetics , Forensic Genetics/trends , Genomics , Animals , Computational Biology/trends , Food Analysis , Genetic Markers , Humans , Plants/geneticsABSTRACT
PURPOSE: To report a multicenter large case series of orbital decompression for non-thyroid eye disease proptosis. METHODS: Retrospective chart review of cases of orbital decompression performed by 9 experienced orbital surgeons from different countries from 2014 to 2017 for non-thyroid eye disease proptosis. Patients were divided into 3 groups: 1) negative vector (high axial length or shallow orbit), 2) inflammatory, and 3) tumor. Types of orbital decompression and Hertel exophthalmometry (preoperative and minimum 6 months postoperative) were recorded. Charts were also assessed for serious complications. The amount of exophthalmometry improvement was recorded according to the above groups. RESULTS: The analysis included 41 orbits of 29 patients (14 women and 15 men) with a mean age of 38.9 years (ranging from 9 to 74; standard deviation (SD) 15.66). There were 17 orbits of 11 patients in the negative vector group, 16 orbits of 10 patients in the inflammatory group, and 8 orbits of 8 patients in the tumor group. The mean reduction of proptosis was 2.95 mm in the negative vector group, 2.54 mm in the inflammatory group, and 5.75 mm in the tumor group. There were no serious complications. CONCLUSIONS: Orbital decompression was safe and effective in reducing proptosis for non-thyroid eye disease indications in this series. The amount of exophthalmometry improvement was less in the inflammatory orbitopathy group compared with other proptosis etiology groups.Orbital decompression may have a role in improving proptosis in non-thyroid eye disease entities.
Subject(s)
Exophthalmos , Graves Ophthalmopathy , Adult , Decompression, Surgical , Exophthalmos/diagnosis , Exophthalmos/surgery , Female , Graves Ophthalmopathy/complications , Graves Ophthalmopathy/diagnosis , Graves Ophthalmopathy/surgery , Humans , Male , Orbit/surgery , Retrospective Studies , Treatment OutcomeABSTRACT
PURPOSE: The evaluation of palpebral laxity can be performed by the distraction test (DT). Although widely used in ophthalmologic practice, there is no consensus about the results considered normal by the test. The objectives of this study are to obtain the value of DT in a group of individuals with healthy eyelids and to compare with the measurements in subjects with senile ectropion. METHODS: Lower eyelid DT was performed in 200 individuals without any eyelid pathology and in 30 individuals with lower lid ectropion. The results were analyzed by age and sex in the control group and compared with the results of the ectropion group. RESULTS: The mean value of DT in the control group was 6.96 mm, lower than in the ectropion group (9.48 mm) (p < 0.001). In the control group, the mean female DT was 6.70 mm, while the male was 7.22 mm. There were differences in the DT values in the subgroups of 20-39 and 40-59-year old according to gender, with men presenting higher measurements than women. In the other age subgroups, both genders presented similar DT values. Even when considering only individuals in the control group with the same range of age as in the ectropion group, the DT value was higher in individuals with ectropion (7.23 and 9.48 mm, respectively, p < 0.001). CONCLUSIONS: The mean DT value is 6.96 mm; however, the measurement varies according to age and sex in people without palpebral pathology. Individuals with senile eyelid ectropion present higher measurements than healthy ones.In this study, the authors performed the eyelid distraction test in 200 healthy individuals, bringing to the literature the new information that there is a variability of the normal test's value regarding age and gender.
Subject(s)
Diagnostic Techniques, Ophthalmological , Ectropion/pathology , Eyelids/pathology , Adult , Aged , Case-Control Studies , Female , Humans , Male , Middle Aged , Reference ValuesABSTRACT
ß-N-Oxalyl-l-α,ß-diaminopropionic acid (ß-ODAP) is a non-protein amino acid present in Lathyrus sativus (grass pea) and other Lathyrus species, in parallel with its nontoxic isomer, α-ODAP. When consuming grass pea for several months as staple food, ß-ODAP may cause neurolathyrism, a motor neuron degeneration syndrome. Therefore, the independent quantification of both ODAP isomers instead of only the total amount in grass pea allows the identification of less toxic varieties and the development of tools to support breeding for improving grass pea quality. In this work, a simple and fast HPLC-MS/MS method was developed without sample derivatization, using a hydrophilic interaction chromatography (HILIC) column and an isocratic gradient of eluents for 18 min, which allowed the determination of both α- and ß-ODAP. The proposed method was fully validated and applied to the determination of α- and ß-ODAP contents in a diverse collection of 107 grass pea accessions representative of the main grass pea-growing geographical regions in the world, with the prompt identification of contrasting accessions. ß-ODAP content in the analyzed grass pea samples ranged from 0.45 ± 0.02 to 6.04 ± 0.45 mg g-1. The moderate correlation found between α- and ß-ODAP contents (0.65) in this collection reinforces the importance of the independent quantification of both ODAP isomers.
Subject(s)
Amino Acids, Diamino/chemistry , Chromatography, High Pressure Liquid , Lathyrus/chemistry , Tandem Mass Spectrometry , Amino Acids, Diamino/analysis , Hydrophobic and Hydrophilic Interactions , Isomerism , Reproducibility of Results , Sensitivity and SpecificityABSTRACT
The abietane 7α-acetoxy-6ß-hydroxyroyleanone (AHR), obtained from plant extracts, is an attractive lead for drug development, given its known antimicrobial properties. Two basic requirements to establish any compound as a new drug are the development of a convenient extraction process and the characterization of its structural and thermal properties. In this work seven different methods were tested to optimize the extraction of AHR from Plectranthus grandidentatus. Supercritical fluid extraction (SFE) proved to be the method of choice, delivering an amount of AHR (57.351 µg·mg-1) approximately six times higher than the second best method (maceration in acetone; 9.77 µg·mg-1). Single crystal X-ray diffraction analysis of the ARH molecular and crystal structure carried out at 167 ± 2 K and 296 ± 2 K showed only a single phase, here dubbed form III (orthorhombic space group P21212), at those temperatures. The presence of two other polymorphs above room temperature was, however, evidenced by differential scanning calorimetry (DSC). The three forms are enantiotropically related, with the form III â form II and form II â form I transitions occurring at 333.5 ± 1.6 K and 352.0 ± 1.6 K, respectively. The fact that the transitions are reversible suggests that polymorphism is not likely to be an issue in the development pharmaceutical formulations based on ARH. DSC experiments also showed that the compound decomposes on melting at 500.8 ± 0.8 K. Melting should therefore be avoided if, for example, strategies to improve solubility based on the production of glassy materials or solid dispersions are considered.