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1.
Artigo em Inglês | MEDLINE | ID: mdl-33716043

RESUMO

Cocaine dependence (CD) is highly comorbid with personality disorders, with implications for poorer treatment response. The neurobiological mechanisms of this comorbidity are unclear. We aimed to test the role of comorbid personality disorders in the neuroanatomy of CD. We examined 4 groups using high-resolution structural neuroimaging, psychological questionnaires and cognitive tests: CD (n = 19), CD and personality disorder type B (CD + B, n = 21), CD and personality disorder C (CD + C, n = 13) and 21 controls. We compared groups in neuroanatomy and hypothesised that (i) CD would show altered striatal areas ascribed to reward processing (i.e., accumbens, caudate and putamen), (ii) CD + B and CD + C would show altered areas supporting emotional regulation/social valuation and anxiety/avoidance (i.e., OFC and amygdala). The CD + B group had larger caudate volumes than CD (p = .01, d = 0.94) and reduced lateral OFC thickness than CD + C (p = .056, d = 0.71). Exploratory correlations showed that altered neural integrity of the OFC and of the caudate nucleus in these groups exacerbated with worse personality disorder severity and impulsivity scores. CD with and without comorbid personality disorders may have partially distinct underlying mechanisms and targets for treatment.

2.
NPJ Biofilms Microbiomes ; 7(1): 9, 2021 01 27.
Artigo em Inglês | MEDLINE | ID: mdl-33504806

RESUMO

Shewanella spp. possess a broad respiratory versatility, which contributes to the occupation of hypoxic and anoxic environmental or host-associated niches. Here, we observe a strain-specific induction of biofilm formation in response to supplementation with the anaerobic electron acceptors dimethyl sulfoxide (DMSO) and nitrate in a panel of Shewanella algae isolates. The respiration-driven biofilm response is not observed in DMSO and nitrate reductase deletion mutants of the type strain S. algae CECT 5071, and can be restored upon complementation with the corresponding reductase operon(s) but not by an operon containing a catalytically inactive nitrate reductase. The distinct transcriptional changes, proportional to the effect of these compounds on biofilm formation, include cyclic di-GMP (c-di-GMP) turnover genes. In support, ectopic expression of the c-di-GMP phosphodiesterase YhjH of Salmonella Typhimurium but not its catalytically inactive variant decreased biofilm formation. The respiration-dependent biofilm response of S. algae may permit differential colonization of environmental or host niches.

3.
Sci Rep ; 10(1): 21470, 2020 Dec 08.
Artigo em Inglês | MEDLINE | ID: mdl-33293593

RESUMO

Magnetic Resonance Imaging (MRI) of hard biological tissues is challenging due to the fleeting lifetime and low strength of their response to resonant stimuli, especially at low magnetic fields. Consequently, the impact of MRI on some medical applications, such as dentistry, continues to be limited. Here, we present three-dimensional reconstructions of ex-vivo human teeth, as well as a rabbit head and part of a cow femur, all obtained at a field strength of 260 mT. These images are the first featuring soft and hard tissues simultaneously at sub-Tesla fields, and they have been acquired in a home-made, special-purpose, pre-medical MRI scanner designed with the goal of demonstrating dental imaging at low field settings. We encode spatial information with two pulse sequences: Pointwise-Encoding Time reduction with Radial Acquisition and a new sequence we have called Double Radial Non-Stop Spin Echo, which we find to perform better than the former. For image reconstruction we employ Algebraic Reconstruction Techniques (ART) as well as standard Fourier methods. An analysis of the resulting images shows that ART reconstructions exhibit a higher signal-to-noise ratio with a more homogeneous noise distribution.

4.
Artigo em Inglês | MEDLINE | ID: mdl-33331518

RESUMO

Hemophagocytic lymphohistiocytosis is a rare complication in Rickettsia typhi infections. We report the case of a 2-year-old boy with sudden night-onset fever, pallor, neck adenopathy and erythematous macular rash on the thorax, thighs and buttocks. During admission, he developed hyponatremia, hypoalbuminemia, anemia, thrombocytopenia, leukopenia, neutropenia, liver damage, hemorrhages and persistent fever. No hematological improvement was observed after the initial management, neoplastic diseases were discarded by bone marrow aspiration and lymph node biopsy; hemophagocytic lymphohistiocytosis was diagnosed. By immunohistochemistry and indirect immunofluorescence, murine typhus was also diagnosed and doxycycline was started with transitory recovery. Later, the child developed kidney failure and distributive shock that evolved to cardiac arrest and death. This is the first case report in Mexico on a fatal murine typhus associated with hemophagocytic lymphohistiocytosis in which the etiology was evidenced by histopathology.


Assuntos
Linfo-Histiocitose Hemofagocítica/diagnóstico , Rickettsia typhi/isolamento & purificação , Tifo Endêmico Transmitido por Pulgas/diagnóstico , Animais , Medula Óssea , Pré-Escolar , Cães , Evolução Fatal , Humanos , Linfo-Histiocitose Hemofagocítica/complicações , Linfo-Histiocitose Hemofagocítica/mortalidade , México , Camundongos , Tifo Endêmico Transmitido por Pulgas/complicações , Tifo Endêmico Transmitido por Pulgas/mortalidade
5.
Sci Rep ; 10(1): 17021, 2020 10 12.
Artigo em Inglês | MEDLINE | ID: mdl-33046792

RESUMO

The microsporidian parasite Nosema ceranae and neonicotinoid insecticides affect the health of honey bees (Apis mellifera). However, there is limited information about the effect of these stressors on other pollinators such as stingless bees (Hymenoptera: Meliponini). We examined the separate and combined effects of N. ceranae and the neonicotinoid thiamethoxam at field-exposure levels on the survivorship and cellular immunity (hemocyte concentration) of the stingless bee Melipona colimana. Newly-emerged bees were subjected to four treatments provided in sucrose syrup: N. ceranae spores, thiamethoxam, thiamethoxam and N. ceranae, and control (bees receiving only syrup). N. ceranae developed infections of > 467,000 spores/bee in the group treated with spores only. However, in the bees subjected to both stressors, infections were < 143,000 spores/bee, likely due to an inhibitory effect of thiamethoxam on the microsporidium. N. ceranae infections did not affect bee survivorship, but thiamethoxam plus N. ceranae significantly increased mortality. Hemocyte counts were significantly lower in N. ceranae infected-bees than in the other treatments. These results suggest that N. ceranae may infect, proliferate and cause cellular immunosuppression in stingless bees, that exposure to sublethal thiamethoxam concentrations is toxic to M. colimana when infected with N. ceranae, and that thiamethoxam restrains N. ceranae proliferation. These findings have implications on pollinators' conservation.

6.
Cir Cir ; 88(5): 576-583, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33064693

RESUMO

Background: The incidence of papillary thyroid microcarcinoma (PTMC) is increasing. Objective: To analyze the long-term prognosis of PTMC. Method: Study population: patients with a histopathological diagnosis of PTMC (size ≤ 1 cm) treated according to the risk of recurrence of the Latin American Thyroid Society. Inclusion criteria: minimum follow-up of 2 years, availability of histopathological samples, and treatment compliance. Exclusion criteria: previous thyroid surgery, other synchronous malignancies or ectopic location of the PTMC. Study variables: persistences, recurrences and mortality. Results: Based on the risk of recurrence, PTMC has very low risk in 65.2% (n = 105), low risk in 17.4% (n = 28) and high risk in 17.4% (n = 28). In high risk patients, total thyroidectomy was performed in all cases, cervical lymphadenectomy in 57,1% (n = 16) and metabolic therapy with I131 in all cases. During a mean follow-up of 119,8 ± 65 months, 0.6% (n = 1) of recurrences took place. Risk factors associated to recurrence were not identified. No patient died due to MCPT. Conclusions: PTMC treated based on its risk of recurrence has a good long-term prognosis, without persistences, with a low number of recurrences and absence of disease-associated mortality.

7.
PeerJ ; 8: e9861, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32974097

RESUMO

Dimethylsulfoniopropionate (DMSP), an osmolyte produced by oceanic phytoplankton and bacteria, is primarily degraded by bacteria belonging to the Roseobacter lineage and other marine Alphaproteobacteria via DMSP-dependent demethylase A protein (DmdA). To date, the evolutionary history of DmdA gene family is unclear. Some studies indicate a common ancestry between DmdA and GcvT gene families and a co-evolution between Roseobacter and the DMSP-producing-phytoplankton around 250 million years ago (Mya). In this work, we analyzed the evolution of DmdA under three possible evolutionary scenarios: (1) a recent common ancestor of DmdA and GcvT, (2) a coevolution between Roseobacter and the DMSP-producing-phytoplankton, and (3) an enzymatic adaptation for utilizing DMSP in marine bacteria prior to Roseobacter origin. Our analyses indicate that DmdA is a new gene family originated from GcvT genes by duplication and functional divergence driven by positive selection before a coevolution between Roseobacter and phytoplankton. Our data suggest that Roseobacter acquired dmdA by horizontal gene transfer prior to an environment with higher DMSP. Here, we propose that the ancestor that carried the DMSP demethylation pathway genes evolved in the Archean, and was exposed to a higher concentration of DMSP in a sulfur-rich atmosphere and anoxic ocean, compared to recent Roseobacter eco-orthologs (orthologs performing the same function under different conditions), which should be adapted to lower concentrations of DMSP.

9.
Environ Microbiol ; 22(9): 3823-3837, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32643243

RESUMO

Despite the widespread distribution of proteorhodopsin (PR)-containing bacteria in the oceans, the use of light-derived energy to promote bacterial growth has only been shown in a few bacterial isolates, and there is a paucity of data describing the metabolic effects of light on environmental photoheterotrophic taxa. Here, we assessed the effects of light on the taxonomic composition, cell integrity and growth responses of microbial communities in monthly incubations between spring and autumn under different environmental conditions. The photoheterotrophs expressing PR in situ were dominated by Pelagibacterales and SAR116 in July and November, while members of Euryarchaeota, Gammaproteobacteria and Bacteroidetes dominated the PR expression in spring. Cell-membrane integrity decreased under dark conditions throughout most of the assessment, with maximal effects in summer, under low-nutrient conditions. A positive effect of light on growth was observed in one incubation (out of nine), coinciding with a declining phytoplankton bloom. Light-enhanced growth was found in Gammaproteobacteria (Alteromonadales) and Bacteroidetes (Polaribacter and Tenacibaculum). Unexpectedly, some Pelagibacterales also exhibited higher growth rates under light conditions. We propose that the energy harvested by PRs helps to maintain cell viability in dominant coastal photoheterotrophic oligotrophs while promoting the growth of some widespread taxa benefiting from the decline of phytoplankton blooms.

10.
Span J Psychol ; 23: e15, 2020 Jun 16.
Artigo em Inglês | MEDLINE | ID: mdl-32613926

RESUMO

Lack of motivation for the treatment of drug addiction is associated with dropout and relapses. Further, personality disorders (PD) have traditionally been linked to low motivation and therapeutic failure. Thus, the present study aims to analyze the structure of the Motivation for Treatment Questionnaire (MTQ-8), as well as to determine differences in motivation due to the presence of PD and the impact of psychological adjustment on motivation. The sample included 125 patients (84% male) who started a treatment for their addiction to cocaine and alcohol. Rasch analysis was applied for the first objective, and means contrast and regression analysis for the others. The two subscales of the MTQ-8 fit the Rasch model, with appropriate psychometric characteristics when merging Items 5 and 7. The presence of PD was not associated with reduced motivation. Motivation for treatment was greater when abstinence was less than three weeks, and psychological distress predicted motivation for treatment. The present study confirms that MTQ-8 subscales are suitable for measuring motivation for treatment and readiness for change in drug-dependent patients. It is noted that the presence of PD should not be associated with a lower level of motivation, and that psychological distress influences motivation.

11.
Neurol Sci ; 41(10): 2883-2892, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32333181

RESUMO

BACKGROUND AND OBJECTIVE: Freezing of gait (FOG) is a disabling symptom more frequent in Parkinson's disease (PD) patients with postural instability gait difficulty (PIGD) phenotype. The aim of this study was to determine the prevalence of self-reported FOG in a large group of PD patients as well as assess its relationship with functional dependency with regard to motor phenotype. METHODS: The data correspond to the baseline evaluation of the COPPADIS-2015 study. Patients with FOG were identified as those with a score of 1 or greater on item-3 of the freezing of gait questionnaire (FOG-Q). Functional dependency was defined as a Schwab and England (S&E) ADL scale score less than 80%. PIGD and non-PIGD (tremor dominant + indeterminate) groups were considered regarding to motor phenotype. RESULTS: Among the 689 PD patients (62.6 ± 8.9 years old, 59.8% males), 240 reported FOG (34.8%), whereas 63 presented functional dependency (9.1%). A total of 22.1% of patients with FOG presented functional dependency vs. only 2.2% of those without FOG (p < 0.0001). FOG was related to functional dependency (OR = 3.470; 95%CI 1.411-8.530; p = 0.007) after adjustment to age, gender, disease duration, daily equivalent levodopa dose, comorbidity (number of non-antiparkinsonian drugs/day), motor status (UPDRS-III), PIGD phenotype, motor complications (UPDRS-IV), NMS burden (NMSS total score), cognition (PD-CRS), and mood (BDI-II). However, according to motor phenotype, FOG was related to functional dependency only in PIGD patients (OR = 7.163; 95%CI 1.206-42.564; p = 0.030). CONCLUSIONS: Self-reported FOG is associated with functional dependency in PIGD but not in non-PIGD motor phenotype patients.

12.
Front Microbiol ; 11: 465, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32265888

RESUMO

Environmental microbial gene expression patterns remain largely unexplored, particularly at interannual time scales. We analyzed the variability in the expression of marker genes involved in ecologically relevant biogeochemical processes at a temperate Atlantic site over two consecutive years. Most of nifH transcripts, involved in nitrogen (N) fixation, were affiliated with the symbiotic cyanobacterium Candidatus Atelocyanobacterium thalassa, suggesting a key role as N providers in this system. The expression of nifH and amoA (i.e., marker for ammonia oxidation) showed consistent maxima in summer and autumn, respectively, suggesting a temporal succession of these important N cycling processes. The patterns of expression of genes related to the oxidation of carbon monoxide (coxL) and reduced sulfur (soxB) were different from that of amoA, indicating alternate timings for these energy conservation strategies. We detected expression of alkaline phosphatases, induced under phosphorus limitation, in agreement with the reported co-limitation by this nutrient at the study site. In contrast, low-affinity phosphate membrane transporters (pit) typically expressed under phosphorus luxury conditions, were mainly detected in post-bloom conditions. Rhodobacteraceae dominated the expression of soxB, coxL and ureases, while Pelagibacteraceae dominated the expression of proteorhodopsins. Bacteroidetes and Gammaproteobacteria were major contributors to the uptake of inorganic nutrients (pit and amt transporters). Yet, in autumn, Thauma- and Euryarchaeota unexpectedly contributed importantly to the uptake of ammonia and phosphate, respectively. We provide new hints on the active players and potential dynamics of ecologically relevant functions in situ, highlighting the potential of metatranscriptomics to provide significant input to future omics-driven marine ecosystem assessment.

13.
BMC Genomics ; 21(1): 196, 2020 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-32126975

RESUMO

BACKGROUND: Olfactory receptor (OR) genes are the largest multi-gene family in the mammalian genome, with 874 in human and 1483 loci in mouse (including pseudogenes). The expansion of the OR gene repertoire has occurred through numerous duplication events followed by diversification, resulting in a large number of highly similar paralogous genes. These characteristics have made the annotation of the complete OR gene repertoire a complex task. Most OR genes have been predicted in silico and are typically annotated as intronless coding sequences. RESULTS: Here we have developed an expert curation pipeline to analyse and annotate every OR gene in the human and mouse reference genomes. By combining evidence from structural features, evolutionary conservation and experimental data, we have unified the annotation of these gene families, and have systematically determined the protein-coding potential of each locus. We have defined the non-coding regions of many OR genes, enabling us to generate full-length transcript models. We found that 13 human and 41 mouse OR loci have coding sequences that are split across two exons. These split OR genes are conserved across mammals, and are expressed at the same level as protein-coding OR genes with an intronless coding region. Our findings challenge the long-standing and widespread notion that the coding region of a vertebrate OR gene is contained within a single exon. CONCLUSIONS: This work provides the most comprehensive curation effort of the human and mouse OR gene repertoires to date. The complete annotation has been integrated into the GENCODE reference gene set, for immediate availability to the research community.


Assuntos
Sequência Conservada , Éxons/genética , Locos de Características Quantitativas , Receptores Odorantes/genética , Animais , Curadoria de Dados/métodos , Bases de Dados Genéticas , Loci Gênicos , Genoma Humano , Humanos , Camundongos , Pseudogenes
14.
Hum Brain Mapp ; 41(10): 2656-2668, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32166833

RESUMO

This work investigates the transfer of motor learning from the eye to the hand and its neural correlates by using functional magnetic resonance imaging (fMRI) and a sensorimotor task consisting of the continuous tracking of a virtual target. In pretraining evaluation, all the participants (experimental and control group) performed the tracking task inside an MRI scanner using their right hand and a joystick. After which, the experimental group practiced an eye-controlled version of the task for 5 days using an eye tracking system outside the MRI environment. Post-training evaluation was done 1 week after the first scanning session, where all the participants were scanned again while repeating the manual pretraining task. Behavioral results show that the training in the eye-controlled task produced a better performance not only in the eye-controlled modality (motor learning) but also in the hand-controlled modality (motor transfer). Neural results indicate that eye to hand motor transfer is supported by the motor cortex, the basal ganglia and the cerebellum, which is consistent with previous research focused on other effectors. These results may be of interest in neurorehabilitation to activate the motor systems and help in the recovery of motor functions in stroke or movement disorder patients.

15.
Vet Parasitol ; 277: 109018, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31896020

RESUMO

Control of sheep gastrointestinal nematode (GIN) infections mostly relies on the use of anthelmintics. Refugia-based control strategies as targeted selective treatments (TST) can delay anthelmintic resistance development, but the optimal decision criteria for selecting individuals to be treated in subclinical infection scenarios remain unclear. The present study aimed to evaluate the suitability of body condition score (BCS) and faecal egg counts (FEC) as treatment indicators and to determine their optimized threshold values for treatment in TST by determining the relationships of BCS, FEC and anthelmintic treatment with several productive parameters in pre-mating and pre-partum periods at an individual level. Deworming in pre-mating period increased BCS gain, but its magnitude was directly associated with strongyle FEC before treatment. Deworming also increased fertility in ewes with BCS < 2.75 and the proportion of lambing ewes that got pregnant during the first ovulation cycle. Nevertheless, treatment did not yield productive benefits in ewes with higher BCS values. On the other hand, deworming in the pre-partum lowered lamb peri-partum mortality and increased lamb weight at birth and the growth of lambs during lactation, especially in lambs born from ewes with strongyle FEC > 400 epg before treatment. These results showed that FEC and especially BCS can be potential decision criteria for the implementation of TST in these types of scenarios. The TST scheme derived from the present results on the control of GIN infections should include anthelmintic treatment of ewes with BCS lower than ≈ 3 approximately five weeks before mating and lambing. In the pre-lambing period, treatment may be unnecessary if flock mean strongyle FEC is lower than ≈ 200 epg, as the proportion of ewes with individual FEC > 400 epg would be very low. The results suggest that implementation of this TST scheme would provide benefits, such as the improvement of productivity, a rational management of parasites in refugia, and preservation of future efficacy of anthelmintics, in comparison to traditional deworming schemes.


Assuntos
Gastroenteropatias/veterinária , Infecções por Nematoides/veterinária , Doenças dos Ovinos/tratamento farmacológico , Doenças dos Ovinos/prevenção & controle , Animais , Infecções Assintomáticas , Feminino , Gastroenteropatias/tratamento farmacológico , Gastroenteropatias/prevenção & controle , Infecções por Nematoides/tratamento farmacológico , Infecções por Nematoides/prevenção & controle , Gravidez , Ovinos
16.
Nanoscale ; 12(2): 658-668, 2020 Jan 14.
Artigo em Inglês | MEDLINE | ID: mdl-31829396

RESUMO

The highly packed cetyltrimethylammonium bromide (CTAB) bilayer built up on the surface of gold nanorods (AuNRs) when synthesized by the seed-mediated procedure hampers the complete ligand exchange under experimental conditions that preserves the stability of the dispersions. In the present work, a ligand exchange protocol by using carboxy-terminated alkanethiols of different chain lengths by means of a green approach that uses only aqueous solutions is presented. The protocol is based on the knowledge of the stability in the aqueous solution of both the starting CTAB-AuNRs and the final products that help in the choice of the experimental conditions used for ligand exchange. The characterization of the CTAB protective layer as well as the study of its colloidal stability in solution has helped us to design an appropriate methodology. Cyclic voltammetry of CTAB-AuNRs demonstrates the high stability of the bilayer showing the existence of a two-dimensional phase transition from a highly ordered to a less organized phase. Other techniques such as XPS, FT-IR and Raman spectroscopy provide information about the structure of the layer and UV-visible-NIR spectroscopy establishes the stability conditions in aqueous solution. We have chosen an exchange procedure for 11-mercaptoundecanoic acid (MUA) and 16-mercaptohexadecanoic acid (MHDA) based on a one-pot methodology under conditions where all the species involved are stable. The protocol, however, can be extended to different chemical functionalities that are considered useful to be applied in living systems. Under these conditions the complete exchange of CTAB by the mercaptoderivatives was successful as demonstrated by the different characterization techniques used: UV-visible-NIR, FT-IR, Raman, XPS spectroscopy, cyclic voltammetry and transmission electron microscopy (TEM).

17.
Span. j. psychol ; 23: e15.1-e15.9, 2020. tab, graf
Artigo em Inglês | IBECS | ID: ibc-196590

RESUMO

Lack of motivation for the treatment of drug addiction is associated with dropout and relapses. Further, personality disorders (PD) have traditionally been linked to low motivation and therapeutic failure. Thus, the present study aims to analyze the structure of the Motivation for Treatment Questionnaire (MTQ-8), as well as to determine differences in motivation due to the presence of PD and the impact of psychological adjustment on motivation. The sample included 125 patients (84% male) who started a treatment for their addiction to cocaine and alcohol. Rasch analysis was applied for the first objective, and means contrast and regression analysis for the others. The two subscales of the MTQ-8 fit the Rasch model, with appropriate psychometric characteristics when merging Items 5 and 7. The presence of PD was not associated with reduced motivation. Motivation for treatment was greater when abstinence was less than three weeks, and psychological distress predicted motivation for treatment. The present study confirms that MTQ-8 subscales are suitable for measuring motivation for treatment and readiness for change in drug-dependent patients. It is noted that the presence of PD should not be associated with a lower level of motivation, and that psychological distress influences motivation


No disponible


Assuntos
Humanos , Masculino , Feminino , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Transtornos da Personalidade/psicologia , Transtornos Relacionados ao Uso de Substâncias/reabilitação , Motivação/classificação , Cooperação e Adesão ao Tratamento/psicologia , Transtornos Relacionados ao Uso de Substâncias/psicologia , Reabilitação Psiquiátrica/psicologia , Centros de Tratamento de Abuso de Substâncias/estatística & dados numéricos , Adaptação Psicológica/classificação , Psicometria/instrumentação
18.
PLoS One ; 14(12): e0223042, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31794554

RESUMO

BACKGROUND: Many neglected tropical diseases (NTDs) are not fatal, but they are disabling, disfiguring and stigmatizing. More accurate data on these aspects would benefit planning, monitoring and evaluation of interventions, as well as provision of appropriate services for the often life-long consequences. In 2015, a cross-NTD toolkit was developed, consisting of a variety of existing questionnaires to measure morbidity, disability and health-related quality of life. The toolkit covers the domains of the International Classification of Functioning, Disability and Health (ICF) framework. These tools have been developed in a source country, however, it was intended for the cross-NTD toolkit to be applicable across NTDs in many countries with different cultures and languages in order to generate universally comparative data. Therefore; the present study aimed to validate several tools of the toolkit among people affected by leprosy or leishmaniasis in the cultural settings of Cartagena and Cúcuta, Colombia. METHODOLOGY: This study aimed to validate the following tools among 55 participants between 18-85 years old, affected by leprosy and leishmaniasis: (I) Clinical Profile, (II) Self-Reporting Questionnaire (SRQ), (III) WHO Quality of Life assessment-abbreviated version (WHOQOL-BREF), and (IV) WHO Quality of Life assessment-Disability (WHOQOL-DIS). The tools were administered during face-to-face interviews and were followed by open questions about the respondents' thoughts on format of the tool and the understanding, relevance and acceptability of the items. The tools were validated using a qualitative method approach based on the framework for cultural equivalence, measured by the cultural, item, semantic and operational equivalences. RESULTS: The Clinical Profile was seen as acceptable and relevant, only the semantic equivalence was not as satisfying and needs a few adaptations. The SRQ was very well understood and shows to reach the equivalences for the population of Colombia without any additional changes. Several items of the WHOQOL-BREF and the WHOQOL-DIS were not well understood and changes are recommended due to semantic difficulties. Operational equivalence of both questionnaires was not as desired in relation to the used response scales. The participants shared that the tools are relevant and important for their particular situation. CONCLUSIONS/SIGNIFICANCE: The SRQ is found to be a valid tool for Colombia and can be included in the cross-NTD toolkit. The Clinical Profile, WHOQOL-BREF & WHOQOL-DIS need changes and retesting among Colombian people affected by an NTD. The toolkit as a whole is seen as useful to show the effects leprosy and leishmaniasis have on the participants. This cultural validation will contribute to a universally applicable cross-NTD toolkit.


Assuntos
Doenças Negligenciadas/diagnóstico , Psicometria/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Colômbia , Comparação Transcultural , Feminino , Humanos , Leishmaniose/diagnóstico , Hanseníase/diagnóstico , Masculino , Pessoa de Meia-Idade , Morbidade , Doenças Negligenciadas/mortalidade , Satisfação Pessoal , Qualidade de Vida , Reprodutibilidade dos Testes , Projetos de Pesquisa , Autorrelato , Inquéritos e Questionários , Medicina Tropical
19.
NPJ Genom Med ; 4: 31, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31814998

RESUMO

The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models. Our annotations increase the transcriptional 'footprint' of these genes by over 674 kb. Using SCN1A as a case study, due to its close phenotype/genotype correlation with Dravet syndrome, we screened 122 people with Dravet syndrome or a similar phenotype with a panel of exon sequences representing eight established genes and identified two de novo SCN1A variants that now - through improved gene annotation - are ascribed to residing among our exons. These two (from 122 screened people, 1.6%) molecular diagnoses carry significant clinical implications. Furthermore, we identified a previously classified SCN1A intronic Dravet syndrome-associated variant that now lies within a deeply conserved exon. Our findings illustrate the potential gains of thorough gene annotation in improving diagnostic yields for genetic disorders.

20.
Cient. dent. (Ed. impr.) ; 16(3): 167-172, sept.-dic. 2019. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-185990

RESUMO

Introducción: En el presente estudio se evalúa la densidad ósea alcanzada, mediante las unidades Hounsfield, por un nuevo biomaterial, compuesto por fosfato cálcico con agregado de silicio, en comparación con la hidroxiapatita de origen bovino en la preservación alveolar pos-textracción. La preservación alveolar pos-textracción se presenta como una técnica quirúrgica dirigida a reducir el colapso del reborde alveolar tras la extracción dental mediante la utilización de un biomaterial. La finalidad del tratamiento es facilitar la posterior rehabilitación implantológica. Material y método: Se llevó a cabo un estudio sobre 6 pacientes procedentes de la Facultad de Odontología de la Universidad Complutense de Madrid a los que se les realizó la técnica de preservación alveolar postextracción. Se establecieron dos grupos: un grupo test en el que el alveolo se rellenó con fosfato cálcico con agregado de silicio y un grupo control en el que se rellenó con hidroxiapatita de origen bovino. Transcurridos 3 meses, se realizó una tomografía computerizada de haz de cono para evaluar la densidad ósea alcanzada por los biomateriales. Resultados: La densidad mineral media alcanzada en el grupo tratado con fosfato cálcico con agregado de silicio fue de 1.100,40 ± 111,19 unidades Hounsfield, mientras que en el grupo que fue tratado con hidroxiapatita de origen bovino fue de 1.029,46 ± 95,16 unidades Hounsfield. Conclusiones: Ambos biomateriales parecen presentar un comportamiento similar en cuanto a los resultados densitométricos obteniendo una densidad superior a 1.000 unidades Hounsfield, siendo el fosfato cálcico con agregado de silicio el que mayor densidad presenta


Introduction: In the present study, bone density from the new biomaterial composed by calcium phosphate and added silica is compared with bovine hydroxyapatite by means of Hounsfield units in alveolar ridge preservation. Alveolar ridge preservation is a surgical technique proposed to reduce bone resorption caused by dental extraction, using a bone graft. This technique ́s final goal is to facilitate implant insertion and rehabilitation. Materials and methods: A study was carried out on 6 patients from the Faculty of Dentistry of the Complutense University of Madrid performing the technique of alveolar ridge preservation. Two groups were established, a test group in which the alveolar socket was filled with calcium phosphate and added silica and a control group where the socket was filled with bovine hydroxyapatite. After 3 months, a cone-beam computed tomography was performed to evaluate the bone density achieved by both biomaterials. Results: The average bone density achieved in the group treated with calcium phosphate and added silica was 1100,40 ± 111,19 Hounsfield units whereas in the group treated with bovine hydroxyapatite the average bone density was 1029,46 ± 95,16 Hounsfield units. Conclusions: Both biomaterials seem to present a similar behaviour in terms of densitometric results obtaining a density greater than 1000 Hounsfield units, having the calcium phosphate and added silica the highest density


Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Densitometria , Materiais Biocompatíveis/uso terapêutico , Fosfatos de Cálcio/uso terapêutico , Durapatita/uso terapêutico , Projetos Piloto , Estudos de Coortes , Densidade Óssea , Extração Dentária , Implantes Dentários , Transplante Ósseo/métodos , Transplante Ósseo/reabilitação , Estudos Retrospectivos
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