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INTRODUCTION/AIMS: Amyotrophic lateral sclerosis (ALS) may be familial or sporadic, and twin studies have revealed that even sporadic forms have a significant genetic component. Variants in 55 nuclear genes have been associated with ALS and although mitochondrial dysfunction is observed in ALS, variants in mitochondrial genomes (mitogenomes) have not yet been tested for association with ALS. The aim of this study was to determine whether mitogenome variants are associated with ALS. METHODS: We conducted a genome-wide association study (GWAS) in mitogenomes of 1965 ALS patients and 2547 controls. RESULTS: We identified 51 mitogenome variants with p values <10-7, of which 13 had odds ratios (ORs) >1, in genes RNR1, ND1, CO1, CO3, ND5, ND6, and CYB, while 38 variants had OR <1 in genes RNR1, RNA2, ND1, ND2, CO2, ATP8, ATP6, CO3, ND3, ND4, ND5, ND6, and CYB. The frequencies of haplogroups H, U, and L, the most frequent in our ALS data set, were the same in different onset sites (bulbar, limb, spinal, and axial). Also, intra-haplogroup GWAS revealed unique ALS-associated variants in haplogroups L and U. DISCUSSION: Our study shows that mitogenome single nucleotide variants (SNVs) are associated with ALS and suggests that these SNVs could be included in routine genetic testing for ALS and that mitochondrial replacement therapy has the potential to serve as a basis for ALS treatment.
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Staphylococcus pseudintermedius, which is part of the skin microbiome of dogs, causes a variety of opportunistic infections. These infections may become more difficult to treat due to the formation of biofilm. The capacity of S. pseudintermedius to form biofilm, as well as the associated genes, has not been elucidated. This study evaluated the production and composition of S. pseudintermedius biofilm. Samples were collected from both infected dogs and asymptomatic dogs. Isolates were identified using mass spectrometry and Multiplex-PCR. Biofilm production and composition were assessed using a quantitative microtiter plate assay. The presence of ica operon genes and sps genes was investigated using conventional PCR. The investigation of Agr type and virulence genes was conducted in silico on 24 sequenced samples. All strains could produce strong biofilms, with most of the isolates presenting a polysaccharide biofilm. 63.6% of the isolates carried the complete ica operon (ADBC). All samples showed the presence of the genes spsK, spsA, and spsL, while the distribution of other genes varied. Agr type III was the most prevalent (52.2%). All sequenced samples carried the cytotoxins hlb, luk-S, luk-F, as well as the exfoliative toxins siet and se_int. No isolate displayed other exfoliative toxins. Only LB1733 presented a set of different enterotoxins (sea, seb, sec_canine, seh, sek, sel, and seq). Our findings suggest that S. pseudintermedius is a strong producer of biofilm and carries virulence genes.
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DNA viruses that produce persistent infections have been proposed as potential causes for the extinction of Neanderthals, and, therefore, the identification of viral genome remnants in Neanderthal sequence reads is an initial step to address this hypothesis. Here, as proof of concept, we searched for viral remnants in sequence reads of Neanderthal genome data by mapping to adenovirus, herpesvirus and papillomavirus, which are double-stranded DNA viruses that may establish lifelong latency and can produce persistent infections. The reconstructed ancient viral genomes of adenovirus, herpesvirus and papillomavirus revealed conserved segments, with nucleotide identity to extant viral genomes and variable regions in coding regions with substantial divergence to extant close relatives. Sequence reads mapped to extant viral genomes showed deamination patterns of ancient DNA, and these ancient viral genomes showed divergence consistent with the age of these samples (≈50,000 years) and viral evolutionary rates (10-5 to 10-8 substitutions/site/year). Analysis of random effects showed that the Neanderthal mapping to genomes of extant persistent viruses is above what is expected by random similarities of short reads. Also, negative control with a nonpersistent DNA virus does not yield statistically significant assemblies. This work demonstrates the feasibility of identifying viral genome remnants in archaeological samples with signal-to-noise assessment.
Subject(s)
DNA, Ancient , Genome, Viral , Neanderthals , Animals , Neanderthals/genetics , Neanderthals/virology , DNA, Ancient/analysis , Evolution, Molecular , DNA, Viral/genetics , Sequence Analysis, DNA/methods , Humans , Phylogeny , DNA Viruses/genetics , DNA Viruses/classification , DNA Viruses/isolation & purification , Fossils/virologyABSTRACT
The present study aimed to evaluate the possible peripheral H2O2-induced antinociception and determine the involvement of opioidergic, cannabinoidergic and nitrergic systems, besides potassium channels in its antinociceptive effect. Prostaglandin E2 was used to induce hyperalgesia in male Swiss mice using the mechanical paw pressure test. H2O2 (0.1, 0.2, 0.3 µg/paw) promoted a dose-dependent antinociceptive effect that was not observed in contralateral paw. Female mice also showed antinociception in the model. The partial H2O2-induced antinociception was potentiated by the inhibitor of catalase enzyme, aminotriazole (40, 60, 80 µg/paw). The antinociception was not reversed by opioid and cannabinoid receptor antagonists naloxone, AM 251 and AM 630. The involvement of nitric oxide (NO) was observed by the reversal of H2O2-induced antinociception using the non-selective inhibitor of nitric oxide synthases L-NOarg and by inhibition of iNOS (L-NIL), eNOS (L-NIO) and nNOS (L-NPA). ODQ, a cGMP-forming enzyme selective inhibitor, also reversed the antinociception. The blockers of potassium channels voltage-gated (TEA), ATP-sensitive (glibenclamide), large (paxillin) and small (dequalinium) conductance calcium-activated were able to revert H2O2 antinociception. Our data suggest that H2O2 induced a peripheral antinociception in mice and the NO pathway and potassium channels (voltage-gated, ATP-sensitive, calcium-activated) are involved in this mechanism. However, the role of the opioid and cannabinoid systems was not evidenced.
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CONTEXT: Apparently, the consumption of resistant-starch food sources, such as green banana biomass, stimulates the proliferation of short-chain fatty acid intestinal bacteria producers, which can contribute to intestinal health and reduce the risk of chronic diseases. However, the available scientific evidence is scarce and no study has systematically evaluated such evidence. OBJECTIVE: The aim of this study was to analyze the potential effects of green banana biomass on anthropometry, body composition, and biochemical and intestinal variables in humans and animals. DATA SOURCES: The Cochrane Library, Embase, Medline/PubMed, Scopus, and Web of Science electronic databases were searched in January 2024 for eligible articles. Studies that tested the effects of cooked peeled or unpeeled green banana on anthropometric, biochemical, and/or intestinal variables were included. DATA EXTRACTION: This systematic review was conducted according to the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The classification and assessment of the quality of studies were based on the relevant criteria related to the design of these studies and the quality criteria checklist of the Academy of Nutrition and Dietetics manual. Twelve studies published between 2001 and 2021 were included in the review. DATA ANALYSIS: The results of human studies indicate that the ingestion of green banana biomass controlled intestinal dysfunction (50-300 g/day for 5-14 days or 30 g/day for 8 wk) in children, and showed potential anti-obesogenic, anti-hyperlipidemic, and antidiabetic (40 g/day for 24 wk) effects in adults. In rats, biomass consumption led to potential anti-obesogenic (25 g/day for 8 wk), anti-hyperlipidemic, and antidiabetic (â¼8-30 g/day for 12 wk) effects. CONCLUSION: Consumption of green banana biomass seems to exert beneficial effects on intestinal function and potential effects on obesity, dyslipidemia, and diabetes. These effects may be related to increased fecal short-chain fatty acid concentrations as a result of type 3 resistant starch present in biomass. SYSTEMATIC REVIEW REGISTRATION: Open Science Framework (OSF) (https://doi.org/10.17605/OSF.IO/TKCWV).
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The genetic contributions of Neanderthals to the modern human genome have been evidenced by the comparison of present-day human genomes with paleogenomes. Neanderthal signatures in extant human genomes are attributed to intercrosses between Neanderthals and archaic anatomically modern humans (AMHs). Although Neanderthal signatures are well documented in the nuclear genome, it has been proposed that there is no contribution of Neanderthal mitochondrial DNA to contemporary human genomes. Here we show that modern human mitochondrial genomes contain 66 potential Neanderthal signatures, or Neanderthal single nucleotide variants (N-SNVs), of which 36 lie in coding regions and 7 result in nonsynonymous changes. Seven N-SNVs are associated with traits such as cycling vomiting syndrome, Alzheimer's disease and Parkinson's disease, and two N-SNVs are associated with intelligence quotient. Based on recombination tests, principal component analysis (PCA) and the complete absence of these N-SNVs in 41 archaic AMH mitogenomes, we conclude that convergent evolution, and not recombination, explains the presence of N-SNVs in present-day human mitogenomes.
Subject(s)
Alzheimer Disease , Genome, Mitochondrial , Neanderthals , Humans , Animals , Neanderthals/genetics , Mutation , NucleotidesABSTRACT
BACKGROUND: Cannabidiol (CBD) is the second most abundant pharmacologically active component present in Cannabis sp. Unlike Δ-9-tetrahydrocannabinol (THC), it has no psychotomimetic effects and has recently received significant interest from the scientific community due to its potential to treat anxiety and epilepsy. CBD has excellent anti-inflammatory potential and can be used to treat some types of inflammatory and neuropathic pain. In this context, the present study aimed to evaluate the analgesic mechanism of cannabidiol administered systemically for the treatment of neuropathic pain and determine the endogenous mechanisms involved with this analgesia. METHODS: Neuropathic pain was induced by sciatic nerve constriction surgery, and the nociceptive threshold was measured using the paw compression test in mice. RESULTS: CBD produced dose-dependent antinociception after intraperitoneal injection. Selective inhibition of PI3Kγ dose-dependently reversed CBD-induced antinociception. Selective inhibition of nNOS enzymes reversed the antinociception induced by CBD, while selective inhibition of iNOS and eNOS did not alter this antinociception. However, the inhibition of cGMP production by guanylyl cyclase did not alter CBD-mediated antinociception, but selective blockade of ATP-sensitive K+ channels dose-dependently reversed CBD-induced antinociception. Inhibition of S-nitrosylation dose-dependently and completely reversed CBD-mediated antinociception. CONCLUSION: Cannabidiol has an antinociceptive effect when administered systemically and this effect is mediated by the activation of PI3Kγ as well as by nitric oxide and subsequent direct S-nitrosylation of KATP channels on peripheral nociceptors.
Subject(s)
Analgesics , Cannabidiol , Class Ib Phosphatidylinositol 3-Kinase , KATP Channels , Neuralgia , Nitric Oxide Synthase Type I , Nitric Oxide , Signal Transduction , Animals , Cannabidiol/pharmacology , KATP Channels/metabolism , Male , Signal Transduction/drug effects , Neuralgia/drug therapy , Neuralgia/metabolism , Mice , Nitric Oxide/metabolism , Class Ib Phosphatidylinositol 3-Kinase/metabolism , Nitric Oxide Synthase Type I/metabolism , Analgesics/pharmacology , AnalgesiaABSTRACT
A trombose representa um desafio no cenário do mieloma múltiplo. O avanço no arsenal terapêutico para o tratamento desse câncer trouxe aumento de sobrevida, mas paralelamente acarretou aumento na incidência dos eventos trombóticos, com impacto na morbidade e na mortalidade. Além disso, o perfil epidemiológico dessa população favorece a coexistência de doença cardiovascular, que compartilha com o câncer mecanismos fisiopatológicos trombogênicos. Assim, apesar do uso de anticoagulantes e antiagregantes plaquetários, a estratégia ideal para profilaxia permanece obscura e o desafio vai além da padronização do modelo de avaliação de risco e da terapia anticoagulante. Este trabalho buscou apresentar o estado da arte sobre o tema com o objetivo de discutir a tromboprofilaxia no mieloma múltiplo, enfatizando a abordagem da doença cardiovascular como parte integrante da estratégia.
Venous thromboembolism (VTE) is the second main cause of death of cancer patients and can be the first manifestation of neoplasms or occur at any time point of the course of the disease1-3. Subgroups have different risks with higher rates observed in specific cancers, including pancreas, stomach and multiple myeloma (MM)1.Associated with higher risk of death, thrombotic events do have an important adverse impact as they may lead to treatment interruption, increased morbidity and economic burden4. In this scenario, MM is challenging, it is the second most common hematologic cancer with a risk of VTE nine-fold higher than in the general population1,5. The high-risk results from patient, treatment and disease-related factors. The epidemiologic profile of the patient with MM favors the coexistence of additional thromboembolic risks, nevertheless, advances of oncologic treatment increased global survival and thrombotic risk4. It is known that 10% of the population with MM will develop VTE at some time point of the disease's course4,6, with high incidence in the first six months post-diagnosis5.Inconsistencies in applying the current thromboprophylaxis recommendations have been found. Due to the lack of robust data and standardized models of risk stratification, many physicians tend to rely on their clinical experience7.The ideal thromboprophylaxis of MM remains unknown
Subject(s)
Multiple Myeloma , Primary Prevention , ThromboembolismABSTRACT
Short germination is a process that can improve bioactive compounds in rice. This work aimed investigate the physical properties, phenolic compounds (PC), antioxidant activity and amino acids composition of husk + bran, brown and milled rice with high amylose content after short germination (16 h). α-amylase activity (Falling Number, FN) and enthalpy (ΔH) were unchanged (p < 0.05). RVA curve profiles were similar, even though after short germination and milling. Globally, metabolomics analysis identified 117 PC, in which 111 (bound), 104 (free) and 21 revealed in both extracts. p-Coumaric, trans-ferulic and ferulic acids were the most abundant PC revealed in all fractions. The portion husk + bran showed the highest level of total antioxidant activity (709.90 µmol TE) in both free and bound fractions. In terms of total amino acids, there was no statistical difference (p < 0.05) among non-germinated and germinated samples, contrary to free amino acids content. Glutamic acid (Glu) presented the highest values combining short germination and milling (1725-1900 mg/100 g) consequently, leads to higher value of GABA (12.21 mg/100 g). The combination of short germination and milling demonstrated a good strategy to improve the nutritional quality of rice, unless the thermal and pasting properties have been altered, contribute to potential health benefits on human nutrition.
Subject(s)
Amino Acids , Oryza , Humans , Amino Acids/analysis , Antioxidants/analysis , Amylose/analysis , Oryza/chemistry , Phenols/analysis , Glutamic Acid/analysis , Seeds/chemistryABSTRACT
Staphylococcus pseudintermedius is an opportunistic pathogen causing a variety of infections that are difficult to treat, especially because of the development of antimicrobial resistance. It has a clonal distribution around the world. To have a better understanding of the MRSP population, we search the presence of MRSP in colonized or infected dogs. Samples from 99 dogs with infections and 35 from asymptomatic dogs were collected. Isolates were identified by mass spectrometry and Multiplex-PCR. The mecA gene was confirmed by conventional PCR. MRSP strains were analyzed by whole-genome sequencing. 75 S. pseudintermedius were identified, most from infection cases. The species were isolated from 70 out of the 135 dogs. Penicillin and Trimethoprim/Sulfamethoxazole presented higher resistance rates. Forty-seven strains were classified as multi-drug resistant (MDR), and were more isolated from dogs with infection (P < 0.05). Eighteen samples were classified as MRSP, representing 24.0% of the population. Six of 16 MRSP sequenced samples belonged to the world spread clone ST71; others belonged to unknown clones. Most samples carried the SCCmec type IIIA. Twenty-one different genetic resistance determinants were found among MRPS strains. MRSP is circulating among infected and colonized dogs in Rio de Janeiro, Brazil.
Subject(s)
Dog Diseases , Staphylococcal Infections , Dogs , Animals , Staphylococcal Infections/drug therapy , Staphylococcal Infections/veterinary , Staphylococcal Infections/epidemiology , Anti-Bacterial Agents/pharmacology , Methicillin Resistance , Brazil , Dog Diseases/drug therapy , Dog Diseases/epidemiology , Multiplex Polymerase Chain Reaction , Genetic Variation , Microbial Sensitivity TestsABSTRACT
PURPOSE: The aim of this study was to analyze the sensory and muscle functions of the pelvic floor in women with endometriosis, trying to improve overall knowledge/findings regarding pelvic floor muscle functions in patients with endometriosis. METHODS: Sample size calculated as 92 patients with endometriosis, aged between 18 and 45 years, not virgin, without other causes of pain and could not be pregnant. Patients underwent the Pelvic Floor Sensorial and Muscle Function Exam (EFSMAP). Descriptive data were recorded with mean and standard deviation, median (range), and absolute and relative frequency. The Kolmogorov-Smirnov test was used to observe the normality of quantitative variables. The significance level adopted for this study was 5%. RESULTS: Of 92 women assessed, 93.3% had pain and 75% had increased tone in the levator ani muscle; 50.4% had impaired pelvic floor relaxation with median strength of 3 by the Oxford scale and endurance of 2 s. CONCLUSIONS: The patients had a high prevalence of pain and dysfunction of the pelvic floor muscles, such as low muscle endurance and difficulty to relax. It shows that these patients should be referred to a pelvic floor physiotherapist, as soon as they have the diagnosis of endometriosis, to be assessed to prevent and/or treat pelvic floor impairments.
Subject(s)
Endometriosis , Humans , Female , Adolescent , Young Adult , Adult , Middle Aged , Endometriosis/complications , Cross-Sectional Studies , Pelvic Floor , Muscle Contraction/physiology , PainABSTRACT
OBJECTIVE: To systematically review the effects of caffeine on the development of cerebral palsy (CP). DESIGN: Systematic review. SETTING: A search of five databases was performed to identify randomized controlled trials (RCT) or cohort studies published through May 2022. Studies conducted on newborns at risk of developing CP upon receiving caffeine in the first days of life were included as well. Two independent researchers assessed the screening, data extraction, and methodological quality assessment. MAIN OUTCOME MEASURES: Percentage of children with CP. RESULTS: Four studies met our inclusion criteria. The only RCT found a decreased risk (approximately 40 %) of developing CP with 20 mg/kg caffeine citrate (OR 0.59, 95 % CI 0.39, 0.89). In addition, when comparing the period over which caffeine citrate was administered, one retrospective cohort study reported that infants who received caffeine up to the second day of life were also less likely to develop CP. Some methodological issues should be highlighted: in the RCT, the differences between the groups with respect to loss to follow-up were not explored. Similarly, intention-to-treat analyses were not performed. Most cohort studies have not adequately identified the primary confounding factors. CONCLUSIONS: Caffeine could be an important intervention in preventing CP. However, few studies have assessed the effects of caffeine on the risk of CP development. Due to methodological differences, no recommendation regarding its use can be safely made. The findings suggest a positive effect of caffeine citrate in the early stages of life with approximately 20 mg/kg of weight; however, well-designed RCTs with adequate sample size and power, randomization process, outcome measurement, and data analysis are still required.
Subject(s)
Cerebral Palsy , Child , Humans , Infant , Infant, Newborn , Caffeine/therapeutic use , Cerebral Palsy/prevention & control , Health Status , Randomized Controlled Trials as TopicABSTRACT
Resumo O presente artigo pretende construir uma leitura psicanalítica sobre as mulheres presentes em 'Lolita', obra literária de Vladimir Nabokov, publicada em 1955. O livro é a autobiografia de Humbert Humbert, de 38 anos, que tem como objeto de amor uma garota de 12 anos, a quem ele nomeia como ninfeta. O narrador defende a existência de duas categorias femininas diferentes. A primeira é atribuída às mulheres adultas, nomeadas como agentes paliativos por serem permitidas por Lei a se relacionarem sexualmente com homens; e a segunda, às diabólicas ninfetas, seu verdadeiro objeto de desejo. Partindo de uma leitura freudolacaniana sobre o feminino e apoiada nos estudos da filósofa Simone de Beauvoir sobre as categorias de representação social das mulheres, o artigo realizou um percurso a partir da fala do narrador Humbert Humbert, criador de tais categorias do feminino, para a investigação do conceito sobre fetichismo. Foi possível concluir que o discurso acerca da sexualidade feminina se constitui para benefício exclusivo de Humbert Humbert, que determina e goza com a nomeação de mulheres, ou seja, ao falar sobre o feminino, o narrador nos ajuda a produzir UM saber, voltado, na verdade, para a sexualidade masculina.
Abstract This article intends to construe a psychoanalytical reading about the women in the literary work Lolita, by Vladimir Nabokov, published in 1955. The book is the autobiography of Humbert Humbert, 38, whose love object is a 12-year-old girl whom that he names as a nymphet. The narrator argues for the existence of two different female categories. The first would be attributed to adult women, named as palliative agents as permitted by the Law to have sexual relations with men. The second to diabolical nymphets, their true object of desire. Starting from a Freudolacanian reading about the feminine and supported by the philosopher Simone de Beauvoir's studies on the categories of women's social representation, this paper will return to the narrator Humbert Humbert, creator of such categories of the feminine, to investigate concept about fetishism. At the end of the work, we were able to realize that the discourse about female sexuality is constituted for the exclusive benefit of Humbert Humbert, who determines and enjoys the naming of women, that is, by talking about the feminine, the narrator helps us to produce a knowledge, in fact, about male sexuality.
Resumen Este artículo pretende construir una lectura psicoanalítica sobre las mujeres presentes en "Lolita", obra literaria de Vladimir Nabokov, publicada en 1955. El libro es la autobiografía de Humbert Humbert, de 38 años, que tiene como objeto de amor a una niña de 12 años, a la que nombra nínfula. El narrador defiende la existencia de dos categorías femeninas diferentes. El primero se atribuiría a las mujeres adultas, nombradas como agentes paliativos por permitirles la Ley relacionarse sexualmente con los hombres. El segundo a las ninfas diabólicas, su verdadero objeto de deseo. Partiendo de una lectura freudolacaniana de lo femenino y apoyándose en los estudios de la filósofa Simone de Beauvoir sobre las categorías de representación social de la mujer, el artículo hace un recorrido desde el discurso del narrador Humbert Humbert, creador de tales categorías de lo femenino, hasta la investigación del concepto de fetichismo. Al final de la obra, pudimos percibir que el discurso sobre la sexualidad femenina se constituye para beneficio exclusivo de Humbert Humbert, quien determina y disfruta al nombrar a las mujeres, es decir, al hablar de lo femenino, el narrador nos ayuda a producir un conocimiento, de hecho, sobre la sexualidad masculina.
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Objetivos: conhecer as estratégias de enfrentamento utilizadas pela mãe de uma lactente com Epidermólise Bolhosa. Método: estudo de caso único com abordagem qualitativa realizado com a mãe de uma criança com seis meses de idade e diagnóstico clínico de Epidermólise Bolhosa. A coleta de dados ocorreu entre fevereiro e março de 2020 no domicílio da participante, por meio de entrevista em profundidade e observação. As narrativas foram submetidas à análise de conteúdo do tipo temática. Resultados: emergiram categorias temáticas, sendo elas "O (res) significar da maternidade após o diagnóstico de Epidermólise Bolhosa", que aborda os momentos de descoberta da doença rara, bem como a utilização da internet como recurso para o enfrentamento, que apresenta o movimento para aquisição de conhecimentos teóricos para possibilitar o cuidado materno realizados à criança. Conclusão: o estudo permitiu apreender as estratégias de enfrentamento utilizadas na vivência da maternidade diante do nascimento da criança com diagnóstico de Epidermólise Bolhosa.
Objetivo: conocer las estrategias de afrontamiento utilizadas por la madre de una lactante con Epidermólisis Bullosa. Método: estudio de caso único con enfoque cualitativo realizado con la madre de una niña de seis meses de edad y diagnóstico clínico de Epidermólisis Bullosa. La recogida de datos tuvo lugar entre febrero y marzo de 2020 en el domicilio de la participante, a través de una entrevista en profundidad y observación. Las narrativas fueron sometidas al análisis de contenido del tipo temático. Resultados: surgieron categorías temáticas, siendo ellas "O (res)significar de la maternidad después del diagnóstico de Epidermólisis Ampollar", que aborda los momentos de descubrimiento de la enfermedad rara, así como la utilización de internet como recurso para el enfrentamiento, que presenta el movimiento para adquirir conocimientos teóricos para posibilitar el cuidado materno realizado a la niña. Conclusión: el estudio permitió aprehender las estrategias de enfrentamiento utilizadas en la vivencia de la maternidad ante el nacimiento del niño con diagnóstico de Epidermólisis Ampollar.
Objective: to know the coping strategies used by the mother of an infant with Epidermolysis Bullosa. Method: a single case study with a qualitative approach conducted with the mother of a six-month-old child with clinical diagnosis of Epidermolysis Bullosa. Data collection occurred between February and March 2020 at the participant's home, through in-depth interviews and observation. The narratives were submitted to thematic content analysis. Results: thematic categories emerged, being "(Re)meaning motherhood after the diagnosis of Epidermolysis Bullosa", which addresses the moments of discovery of the rare disease, as well as the use of the internet as a resource for coping, that presents the movement to acquire theoretical knowledge to enable maternal care performed to the child. Conclusion: the study allowed the understanding of the coping strategies used in the experience of motherhood before the birth of the child diagnosed with Epidermolysis Bullosa.
Subject(s)
Humans , Female , Infant , Adult , Pediatric Nursing , Epidermolysis Bullosa/prevention & control , Parenting/psychology , Rare Diseases/therapy , Qualitative ResearchABSTRACT
BACKGROUND: Narcolepsy type 1 (NT1) is a rare and chronic neurological disease characterized by sudden sleep attacks, overwhelming daytime drowsiness, and cataplexy. When associated with a sudden loss of muscle tone (cataplexy) narcolepsy is classified as type 1, while the absence of cataplexy indicates type 2. Genetic, degenerative, and immunological hypotheses to explain the pathophysiology of NT1 are still a matter of debate. To contribute to the understanding of NT1 genetic basis, here we describe, for the first time, a whole genome analysis of a monozygotic twin pair discordant for NT1. CASE PRESENTATION: We present the case of a pair of 17-year-old male, monozygotic twins discordant for NT1. The affected twin had Epworth Sleepiness Scale (ESS) of 20 (can range from 0 to 24), cataplexy, hypnagogic hallucinations, polysomnography without abnormalities, multiple sleep latency tests (MSLT) positive for narcolepsy, a mean sleep latency of 3 min, sleep-onset REM periods SOREMPs of 5, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of zero pg/mL (normal values are > 200 pg/mL). The other twin had no narcolepsy symptoms (ESS of 4), normal polysomnography, MSLT without abnormalities, presence of allele HLA-DQB1*06:02, and Hypocretin-1 level of 396,74 pg/mL. To describe the genetic background for the NT1 discordant manifestations in this case, we present the whole-genome analysis of this monozygotic twin pair. The whole-genome comparison revealed that both twins have identical NT1 pathogenic mutations in known genes, such as HLA-DQB1*06:02:01, HLA-DRB1*11:01:02/*15:03:01. The affected twin has the expected clinical manifestation while the unaffected twin has an unexpected phenotype. The unaffected twin has significantly more frameshift mutations as compared to the affected twin (108 versus 75) and mutations that affect stop codons (61 versus 5 in stop gain, 26 versus 2 in start lost). CONCLUSIONS: The differences observed in frameshift and stop codon mutations in the unaffected twin are consistent with loss-of-function effects and protective alleles, that are almost always associated with loss-of-function rare alleles. Also, overrepresentation analysis of genes containing variants with potential clinical relevance in the unaffected twin shows that most mutations are in genes related to immune regulation function, Golgi apparatus, MHC, and olfactory receptor. These observations support the hypothesis that NT1 has an immunological basis although protective mutations in non-HLA alleles might interfere with the expression of the NT1 phenotype and consequently, with the clinical manifestation of the disease.
Subject(s)
Cataplexy , Narcolepsy , Male , Humans , Orexins , Brazil , Narcolepsy/diagnosis , Narcolepsy/genetics , PolysomnographyABSTRACT
Among mammals, the order Primates is exceptional in having a high taxonomic richness in which the taxa are arboreal, semiterrestrial, or terrestrial. Although habitual terrestriality is pervasive among the apes and African and Asian monkeys (catarrhines), it is largely absent among monkeys of the Americas (platyrrhines), as well as galagos, lemurs, and lorises (strepsirrhines), which are mostly arboreal. Numerous ecological drivers and species-specific factors are suggested to set the conditions for an evolutionary shift from arboreality to terrestriality, and current environmental conditions may provide analogous scenarios to those transitional periods. Therefore, we investigated predominantly arboreal, diurnal primate genera from the Americas and Madagascar that lack fully terrestrial taxa, to determine whether ecological drivers (habitat canopy cover, predation risk, maximum temperature, precipitation, primate species richness, human population density, and distance to roads) or species-specific traits (body mass, group size, and degree of frugivory) associate with increased terrestriality. We collated 150,961 observation hours across 2,227 months from 47 species at 20 sites in Madagascar and 48 sites in the Americas. Multiple factors were associated with ground use in these otherwise arboreal species, including increased temperature, a decrease in canopy cover, a dietary shift away from frugivory, and larger group size. These factors mostly explain intraspecific differences in terrestriality. As humanity modifies habitats and causes climate change, our results suggest that species already inhabiting hot, sparsely canopied sites, and exhibiting more generalized diets, are more likely to shift toward greater ground use.
Subject(s)
Biological Evolution , Primates , Americas , Animals , Cercopithecidae , Haplorhini , Humans , Madagascar , Mammals , TreesABSTRACT
Depending on the magnitude and nature of a disaster, identifying the victims can be a complex task that requires coordinated work by disaster victim identification (DVI) teams based on pre-established protocols. Thus, the analysis of fingerprints has been presented as a method to establish, when possible, the identity of the victims during the DVI process. This study discusses the importance of this primary method of identification and the results obtained in four different disasters in which Brazilian DVI teams were involved: the Air France Flight AF447 plane crash in the Atlantic Ocean, floods and mudslides in the State of Rio de Janeiro, Brazil, the LaMia Flight 2933 plane crash in Colombia, and the tailings dam collapse in Brumadinho, Brazil. Here, we also report the use of the automatic fingerprint capture and identification system, called Alethia, developed by the Federal Police of Brazil and used in the victim identification process in the two latter events mentioned above.Key pointsThis article presents four different disasters that occurred in Brazil and overseas and involved Brazilian DVI teams in the identification process, focusing on fingerprint identification (Air France Flight AF447, floods and mudslides in the State of Rio de Janeiro, Brazil, LaMia Flight 2933, and the Brumadinho tailings dam collapse).This article also describes the evolution of the DVI process in Brazil, including a description of the technology currently used by Brazilian fingerprint experts (Alethia).This article reports how the Alethia System was used in the disasters and how it optimized the human identification process when compared to traditional methods.
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Rare earth elements (REEs) present a group of nonessential metals for the growth and development of plants. At high concentrations, they can induce internal stress and disturb the physiological and biochemical mechanisms in plants. The potential uptake of lanthanum (La) and cerium (Ce) by the horticultural plant Helianthus annuus and the effect of these elements on its growth, its absorption of macroelements, and the contents of phenolic compounds and flavonoids were assessed. The plants were exposed to 0, 1, 2.5, 5, and 10 µM of La and Ce for 14 days. The results showed a remarkable accumulation of the two REEs, especially in the roots, which was found to be positively correlated with the total phenolic compound and flavonoid content in the plant shoots and roots. The plant's growth parameter patterns (such as dry weight and water content); the levels of potassium, calcium, and magnesium; and the tolerance index varied with the concentrations of the two studied elements. According to the tolerance index values, H. annuus had more affinity to La than to Ce. Although these metals were accumulated in H. annuus tissues, this Asteraceae plant cannot be considered as a hyperaccumulator species of these two REEs, since the obtained REE content in the plant's upper parts was less than 1000 mg·Kg-1 DW.
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BACKGROUND: There are few studies on the physiology and haematology of rescued bearded capuchin monkeys. These are necessary to better understand the health and welfare status of the animals, including when performing reintroductions, and to avoid zoonoses. METHODS: We aimed to obtain physiological and haematological values, morphometry and parasitological status of 26 bearded capuchins in two rescue centres in Northeast Brazil. RESULTS: We found sex- and age-related differences in respiratory rate, body weight and body mass index, but not haematology. The haematological values obtained were significantly different from published data but within the reference intervals for the species. Animals infected with Ancylostoma spp. had significantly lower values in the parameters: haemoglobin concentration, mean corpuscular volume and mean corpuscular haemoglobin concentration than non-infected individuals. CONCLUSION: Physiological and haematological values of rescued capuchins were similar to those found in previous studies. Ancylostomiasis appears to cause alterations to haematological values of this species.
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Cebinae , Cebus , Animals , Brazil , Cebinae/physiology , HaplorhiniABSTRACT
BACKGROUND: Cardiac dysfunction is common in the days after severe traumatic brain injury (TBI) and may contribute to hypotension episodes, leading to worse outcomes. Little is known about cardiac function in the minutes and hours immediately following TBI. By using fluid percussion TBI in a swine model, we aimed to characterize the immediate post injury cardiac function. METHODS: Intubated, anesthetized immature (25.8 ± 1.5 kg) female swine were subjected to severe fluid percussion TBI (4.2 ± 0.2 atm). Beginning at 45 min, simulating hospital arrival, all animals were resuscitated with normal saline (NS), mannitol, and phenylephrine as needed to maintain a cerebral perfusion pressure more than 60 mm Hg and intracranial pressure (ICP) less than 20 mm Hg. Primary outcomes of cardiac function were cardiac output measured by thermodilution and transesophageal echo measurements of cardiac function recorded at prespecified time points and tested for trends over time using linear regression with spline at the time of resuscitation onset. Secondary outcomes included hemodynamic measurements, ICP, and cerebral perfusion pressure. RESULTS: Eighteen animals were included. Post-TBI hemodynamic changes demonstrated an early decrease in mean arterial pressure and cerebral perfusion pressure with a corresponding increase in heart rate and ICP. Immediately after injury, there was a significant decrease in both left atrial area and tissue Doppler imaging e' of the LV lateral wall. In addition, there was a simultaneous increase in LV end diastolic diameter and increase in E/e' ratio of the lateral mitral annulus. All other transesophageal echo measurements demonstrated no significant changes throughout the duration of the experiment. CONCLUSIONS: Traumatic brain injury is associated with cardiac dysfunction and increased mortality, however there is still a limited understanding of the hemodynamic and echocardiographic response associated with TBI. In this study we demonstrate the hemodynamic and echocardiographic changes in the early stages of TBI in swine. The authors hope that these results may help better understanding on the management of patients with severe head injury.