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1.
Pediatr Res ; 2023 Dec 05.
Artículo en Inglés | MEDLINE | ID: mdl-38052860

RESUMEN

BACKGROUND: Glycogen storage disease type V (GSDV) is an autosomal recessive metabolic condition caused by pathogenic PYGM variants. This is an underdiagnosed condition as it presents with exercise intolerance in children. We reviewed the GSDV cases of a tertiary hospital center to assess diagnostic timing/accuracy, as well as potential clinical/analytical predictors of such factors. METHODS: We retrospectively reviewed all GSDV cases with follow-up in both Pediatric and Adult Metabolic Diseases consultations. We included 28 cases and assessed their hospital record for clinical information. RESULTS: Over 90% of our cases had late diagnoses, with more than 50% being diagnosed in adulthood despite symptom onset in preschool (very late diagnosis). Diagnostic age was lower in patients exhibiting myoglobinuria. Interestingly, patients with a positive family history of GSDV had similar rates of very late diagnoses, likely since the index case was already detected very late in life. Finally, we observe that the R50* variant is associated with increased myoglobinuria and CK elevation, in a dosage-dependent manner. CONCLUSION: We concluded that GSDV is severely underdiagnosed, and that some clinical and analytical aspects of the condition can be more indicative of this diagnosis. Furthermore, we propose for the first time a genotype-phenotype correlation in GSDV. IMPACT: GSDV is a pediatric-onset metabolic disorder that is mostly diagnosed late in the adult age and commonly misdiagnosed. We observed the first genotype-phenotype correlation in GSDV, regarding the common R50* variant. Awareness of GSDV for pediatricians and the overall medical community is vital.

2.
Biol Lett ; 19(5): 20220490, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-37194257

RESUMEN

Insects may acquire social information by active communication and through inadvertent social cues. In a foraging setting, the latter may indicate the presence and quality of resources. Although social learning in foraging contexts is prevalent in eusocial species, this behaviour has been hypothesized to also exist between conspecifics in non-social species with sophisticated behaviours, including Heliconius butterflies. Heliconius are the only butterfly genus with active pollen feeding, a dietary innovation associated with a specialized, spatially faithful foraging behaviour known as trap-lining. Long-standing hypotheses suggest that Heliconius may acquire trap-line information by following experienced individuals. Indeed, Heliconius often aggregate in social roosts, which could act as 'information centres', and present conspecific following behaviour, enhancing opportunities for social learning. Here, we provide a direct test of social learning ability in Heliconius using an associative learning task in which naive individuals completed a colour preference test in the presence of demonstrators trained to feed randomly or with a strong colour preference. We found no evidence that Heliconius erato, which roost socially, used social information in this task. Combined with existing field studies, our results add to data which contradict the hypothesized role of social learning in Heliconius foraging behaviour.


Asunto(s)
Mariposas Diurnas , Aprendizaje Social , Humanos , Animales , Aprendizaje , Conducta Animal , Dieta
3.
Neurol Sci ; 44(9): 3303-3305, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37213040

RESUMEN

BACKGROUND: Progressive muscular atrophy (PMA) is a rare adult-onset neurological disease that is characterized by isolated lower motor neuron degeneration. While it is still disputable whether PMA is a subtype of amyotrophic lateral sclerosis (ALS) or an isolated disorder, it is well-established as a clinically defined entity. About 5% of PMA cases are monogenic, and the implicated genes largely overlap with those causing monogenic ALS. CASE DESCRIPTION: Here we describe a 68-year-old female patient with progressive and asymmetric upper-limb weakness throughout an 18-month period, with muscle atrophy, dysphagia and slurring of speech. The lower limbs were unaffected, and there was no sign of upper motor neuron dysfunction. Comprehensive genetic testing for single nucleotide and copy-number variants revealed a pathogenic monoallelic variant c.1529C>T, p.(Ala510Val) in the SPG7 gene. DISCUSSION: Pathogenic biallelic SPG7 variants have been originally associated with hereditary spastic paraplegia, but other phenotypes are nowadays known to be linked to these variants, such as ALS. However, there is no report of this (or any) other SPG7 variant in association with PMA, whether it progressed to ALS or not. In conclusion, we present the first known case of PMA associated with a monoallelic SPG7 mutation.


Asunto(s)
Esclerosis Amiotrófica Lateral , Atrofia Muscular Espinal , Paraplejía Espástica Hereditaria , Femenino , Humanos , Esclerosis Amiotrófica Lateral/genética , Esclerosis Amiotrófica Lateral/patología , Atrofia Muscular Espinal/genética , Mutación/genética , Pruebas Genéticas , Paraplejía Espástica Hereditaria/genética , ATPasas Asociadas con Actividades Celulares Diversas/genética , Metaloendopeptidasas/genética
4.
J Hand Ther ; 36(1): 103-109, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-34392998

RESUMEN

BACKGROUND: An important focus of rehabilitation is thereturn to the meningful occupations which may include work and school activities. PURPOSE: The aim of this study is to investigate predictive factors for return to work/study in traumatic brachial plexus injury patients undergoing rehabilitation and to investigate the level of satisfaction with treatment. STUDY DESIGN: Retrospective observational study with at least 1 year of follow-up. METHODS: One hundred and one individuals with traumatic brachial plexus injury enrolled in this study. Primary outcomes were return to work/study and satisfaction with treatment. A secondary outcome was the self-perception of what influenced return to work. Sociodemographic and related to injury data, rehabilitation interventions, muscle strength, and disability were analyzed as predictors. Associations were investigated using univariable and discriminant analysis and considered a level of significance of P < .05. RESULTS: Return to work/study occurred in 55% of the patients who participated in this study. Muscle strength discerned those who returned to work. Time interval between trauma and surgery and age were lower in those who returned to work. Thirty-one patients answered the question regarding self-perception of what influenced return to work. They indicated "necessity", "rehabilitation", "my desire" and "not become depressed". Satisfaction was graded between 8.9 and 9.5 in 95% of the cases. CONCLUSIONS: Return to work/study was related to muscle strength improvement and those who returned were younger and had less time elapsed from trauma. Individual factors and rehabilitation were pointed out as helpful in aiding return to work. Satisfaction with treatment was high. These findings can help to optimize goals in the rehabilitation environment.


Asunto(s)
Plexo Braquial , Reinserción al Trabajo , Humanos , Estudios de Seguimiento , Resultado del Tratamiento , Estudios Retrospectivos , Plexo Braquial/lesiones , Satisfacción Personal
5.
Acta Neurochir (Wien) ; 164(5): 1317-1328, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35348897

RESUMEN

BACKGROUND: The COVID-19 pandemic and the need for social distancing created challenges for accessing and providing health services. Telemedicine enables prompt evaluation of patients with traumatic brachial plexus injury, even at a distance, without prejudice to the prognosis. The present study aimed to verify the validity of range of motion, muscle strength, sensitivity, and Tinel sign tele-assessment in adults with traumatic brachial plexus injury (TBPI). METHODS: A cross-sectional study of twenty-one men and women with TBPI admitted for treatment at a Rehabilitation Hospital Network was conducted. The participants were assessed for range of motion, muscle strength, sensitivity, and Tinel sign at two moments: in-person assessment (IPA) and tele-assessment (TA). RESULTS: The TA muscle strength tests presented significant and excellent correlations with the IPA (the intra-rater intraclass correlation coefficient, ICC ranged between 0.79 and 1.00 depending on the muscle tested). The agreement between the TA and IPA range of motion tests ranged from substantial to moderate (weighted kappa coefficient of 0.47-0.76 (p < 0.05) depending on the joint), and the kappa coefficient did not indicate a statistically significant agreement in the range of motion tests of supination, wrist flexors, shoulder flexors, and shoulder external rotators. The agreement between the IPA andTA sensitivity tests of all innervations ranged from substantial to almost perfect (weighted kappa coefficient 0.61-0.83, p < 0.05) except for the C5 innervation, where the kappa coefficient did not indicate a statistically significant agreement. The IPA versus TA Tinel sign test showed a moderate agreement (weighted kappa coefficient of 0.57, p < 0.05). CONCLUSIONS: The present study demonstrated that muscle strength tele-assessment is valid in adults with TBPI and presented a strong agreement for many components of TA range of motion, sensitivity, and Tinel sign tests.


Asunto(s)
Neuropatías del Plexo Braquial , Plexo Braquial , COVID-19 , Adulto , Plexo Braquial/lesiones , Estudios Transversales , Femenino , Humanos , Masculino , Fuerza Muscular , Pandemias , Rango del Movimiento Articular
6.
BMC Biol ; 18(1): 84, 2020 07 03.
Artículo en Inglés | MEDLINE | ID: mdl-32620168

RESUMEN

BACKGROUND: Heliconius butterflies are widely distributed across the Neotropics and have evolved a stunning array of wing color patterns that mediate Müllerian mimicry and mating behavior. Their rapid radiation has been strongly influenced by hybridization, which has created new species and allowed sharing of color patterning alleles between mimetic species pairs. While these processes have frequently been observed in widespread species with contiguous distributions, many Heliconius species inhabit patchy or rare habitats that may strongly influence the origin and spread of species and color patterns. Here, we assess the effects of historical population fragmentation and unique biology on the origins, genetic health, and color pattern evolution of two rare and sparsely distributed Brazilian butterflies, Heliconius hermathena and Heliconius nattereri. RESULTS: We assembled genomes and re-sequenced whole genomes of eight H. nattereri and 71 H. hermathena individuals. These species harbor little genetic diversity, skewed site frequency spectra, and high deleterious mutation loads consistent with recent population bottlenecks. Heliconius hermathena consists of discrete, strongly isolated populations that likely arose from a single population that dispersed after the last glacial maximum. Despite having a unique color pattern combination that suggested a hybrid origin, we found no genome-wide evidence that H. hermathena is a hybrid species. However, H. hermathena mimicry evolved via introgression, from co-mimetic Heliconius erato, of a small genomic region upstream of the color patterning gene cortex. CONCLUSIONS: Heliconius hermathena and H. nattereri population fragmentation, potentially driven by historical climate change and recent deforestation, has significantly reduced the genetic health of these rare species. Our results contribute to a growing body of evidence that introgression of color patterning alleles between co-mimetic species appears to be a general feature of Heliconius evolution.


Asunto(s)
Evolución Biológica , Mariposas Diurnas/genética , Ecosistema , Genoma , Hibridación Genética , Animales , Brasil , Femenino , Masculino , Secuenciación Completa del Genoma
7.
J Clin Monit Comput ; 35(6): 1279-1289, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-33001401

RESUMEN

General anesthesia is a reversible drug-induced state of altered arousal characterized by loss of responsiveness due to brainstem inactivation. Precise identification of the moment in which responsiveness is lost during the induction of general anesthesia is extremely important to provide information regarding an individual's anesthetic requirements and help intraoperative drug titration. To characterize the transition from responsiveness to unresponsiveness more objectively, we studied neurophysiologic-derived parameters of electromyographic records of electrically evoked blink reflex as a means of identifying the precise moment of loss of responsiveness. Twenty-five patients received a slow infusion of propofol until loss of corneal reflex while successive blink reflexes were elicited and recorded every 6 s. The level of anesthesia was assessed using an adapted version of the Richmond Agitation-Sedation Scale. Different variables of the blink reflex components were calculated and compared to the adapted version of the Richmond Agitation-Sedation score and the estimated effect-site propofol concentration. Baselines of the blink reflex responses were similar to those in literature. After propofol infusion started, the most susceptible component of the blink reflex to propofol was R2 (EC50 = 1.358 (95% CI 1.321, 1.396) µg/mL) and the most resistant was R1 (EC50 = 3.025 (95% CI 2.960, 3.090) µg/mL). Most of the patients (24 out of 25) lost the R1 component when they were still responsive to shaking and shouting and corneal reflex could be elicited clinically (time = 102.48 ± 33.00 s). Habituation was present in R2 but not in R1. The R1 component of the blink reflex was found to have a strong correlation with the adapted version of the Richmond Agitation-Sedation Scale, with amplitude correlating better than areas (ρ = - 0.721 (0.123) versus ρ = - 0.688 (0.165)). We found a strong correlation between the R1 component with the estimated propofol effect-site concentration, with amplitude correlating better than areas (ρ = - 0.838 (0.113) versus ρ = - 0.823 (0.153)) and between the clinical scale and the propofol concentration (ρ = 0.856 (0.060)). The area and amplitude of the R1 component showed to be indicators of predicting different levels of anesthesia (Pk = 0.672 (0.183) versus Pk = 0.709 (0.134)) and these are connected to the propofol concentrations (Pk = 0.593 (0.10)). Our results suggest that electrically evoked blink reflex could be used during the induction of anesthesia as a surrogate of the Richmond Agitation-Sedation Scale to provide an objective endpoint as far as a - 4. At this point, at the moment of loss of R1, the propofol infusion may be stopped, as overshooting increases slightly the effect-site concentration afterward and eventually reaching loss of responsiveness. If the desired target is not achieved, the infusion can then be resumed.


Asunto(s)
Propofol , Anestesia General , Anestésicos Intravenosos , Parpadeo , Humanos , Remifentanilo
8.
Biomed Eng Online ; 19(1): 84, 2020 Nov 14.
Artículo en Inglés | MEDLINE | ID: mdl-33189149

RESUMEN

BACKGROUND: The amount of propofol needed to induce loss of responsiveness varied widely among patients, and they usually required less than the initial dose recommended by the drug package inserts. Identifying precisely the moment of loss of responsiveness will determine the amount of propofol each patient needs. Currently, methods to decide the exact moment of loss of responsiveness are based on subjective analysis, and the monitors that use objective methods fail in precision. Based on previous studies, we believe that the blink reflex can be useful to characterize, more objectively, the transition from responsiveness to unresponsiveness. The purpose of this study is to investigate the relation between the electrically evoked blink reflex and the level of sedation/anesthesia measured with an adapted version of the Richmond Agitation-Sedation Scale, during the induction phase of general anesthesia with propofol and remifentanil. Adding the blink reflex to other variables may allow a more objective assessment of the exact moment of loss of responsiveness and a more personalized approach to anesthesia induction. RESULTS: The electromyographic-derived features proved to be good predictors to estimate the different levels of sedation/anesthesia. The results of the multinomial analysis showed a reasonable performance of the model, explaining almost 70% of the adapted Richmond Agitation-Sedation Scale variance. The overall predictive accuracy for the model was 73.6%, suggesting that it is useful to predict loss of responsiveness. CONCLUSIONS: Our developed model was based on the information of the electromyographic-derived features from the blink reflex responses. It was able to predict the drug effect in patients undergoing general anesthesia, which can be helpful for the anesthesiologists to reduce the overwhelming variability observed between patients and avoid many cases of overdosing and associated risks. Despite this, future research is needed to account for variabilities in the clinical response of the patients and with the interactions between propofol and remifentanil. Nevertheless, a method that could allow for an automatic prediction/detection of loss of responsiveness is a step forward for personalized medicine.


Asunto(s)
Anestesia , Bioestadística , Parpadeo/efectos de los fármacos , Propofol/farmacología , Remifentanilo/farmacología , Electromiografía/efectos de los fármacos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Probabilidad
9.
Acta Neurochir (Wien) ; 162(8): 1907-1912, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32506331

RESUMEN

BACKGROUND: To recover biceps strength in patients with complete brachial plexus injuries, the intercostal nerve can be transferred to the musculocutaneous nerve. The surgical results are very controversial, and most of the studies with good outcomes and large samples were carried out in Asiatic countries. The objective of the study was to evaluate biceps strength after intercostal nerve transfer in patients undergoing this procedure in a Western country hospital. METHODS: We retrospectively analyzed 39 patients from 2011 to 2016 with traumatic brachial plexus injuries receiving intercostal to musculocutaneous nerve transfer in a rehabilitation hospital. The biceps strength was graded using the British Medical Research Council (BMRC) scale. The variables reported and analyzed were age, the time between trauma and surgery, surgeon experience, body mass index, nerve receptor (biceps motor branch or musculocutaneous nerve), and the number of intercostal nerves transferred. Statistical tests, with a significance level of 5%, were used. RESULTS: Biceps strength recovery was graded ≥M3 in 19 patients (48.8%) and M4 in 15 patients (38.5%). There was no statistical association between biceps strength and the variables. The most frequent complication was a pleural rupture. CONCLUSIONS: Intercostal to musculocutaneous nerve transfer is a safe procedure. Still, biceps strength after surgery was ≥M3 in only 48.8% of the patients. Other donor nerve options should be considered, e.g., the phrenic or spinal accessory nerves.


Asunto(s)
Neuropatías del Plexo Braquial/cirugía , Plexo Braquial/lesiones , Nervio Musculocutáneo/cirugía , Transferencia de Nervios/métodos , Nervio Accesorio/cirugía , Adulto , Femenino , Humanos , Nervios Intercostales/cirugía , Masculino , Persona de Mediana Edad , Músculo Esquelético/inervación , Músculo Esquelético/fisiología , Transferencia de Nervios/efectos adversos , Complicaciones Posoperatorias/epidemiología
10.
J Card Surg ; 34(7): 577-582, 2019 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-31212388

RESUMEN

INTRODUCTION: Considering the threat imposed by postoperative atrial fibrillation (POAF) after coronary artery bypass grafting (CABG) and the potential benefits of off-pump CABG, the objective of this study was to describe the incidence and identify predictor factors for POAF in patients undergoing CABG without cardiopulmonary bypass (CPB). METHODS: In this retrospective cohort study, we enrolled patients undergoing CABG without CPB between December 2008 and December 2011. The independent variables evaluated in this study were major patients' characteristics (age, sex, and ethnia), associated comorbidities (systemic arterial hypertension, diabetes mellitus, thyroid dysfunction, chronic renal failure (CRF), chronic obstructive pulmonary disease, and ischemic stroke), and the revascularization approach (the number of grafts used, the revascularized branch, and the choice of vascular graft (arterial or venous). The dependent variable was the onset of atrial fibrillation after the procedure. RESULTS: Two hundred and eighty patients were included in the present study. The overall incidence of POAF after off-pump CABG was 5.0%. In the univariate analysis, the presence of chronic renal failure (odds ratio [OR], 3.01 [1.00-9.06], P = .049) and the use of venous-origin graft alone (OR, 9.67 [1.15-81.56], P = .037) were associated with an increased risk or POAF. These findings were confirmed after multivariate analysis, for both CRF (OR, 3.31 [1.05-10.46], P = .042) and the use of venous-origin graft alone (OR, 9.81 [1.13-85.35], P = .039). CONCLUSION: Off-pump coronary artery bypass grafting proved a safe and effective procedure, with low postoperative atrial fibrillation occurrence, for myocardial revascularization. Chronic renal insufficiency and the use of venous-origin graft solely proved to be independent predictor factors for PAOF.


Asunto(s)
Fibrilación Atrial/prevención & control , Puente de Arteria Coronaria Off-Pump , Revascularización Miocárdica/métodos , Complicaciones Posoperatorias/prevención & control , Anciano , Fibrilación Atrial/epidemiología , Puente Cardiopulmonar , Estudios de Cohortes , Femenino , Predicción , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Resultado del Tratamiento
11.
Sensors (Basel) ; 19(22)2019 Nov 12.
Artículo en Inglés | MEDLINE | ID: mdl-31726742

RESUMEN

Motion analysis systems based on a single markerless RGB-D camera are more suitable for clinical practice than multi-camera marker-based reference systems. Nevertheless, the validity of RGB-D cameras for motor function assessment in some diseases affecting gait, such as Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP), is yet to be investigated. In this study, the agreement between the Kinect v2 and a reference system for obtaining spatiotemporal and kinematic gait parameters was evaluated in the context of TTR-FAP. 3-D body joint data provided by both systems were acquired from ten TTR-FAP symptomatic patients, while performing ten gait trials. For each gait cycle, we computed several spatiotemporal and kinematic gait parameters. We then determined, for each parameter, the Bland Altman's bias and 95% limits of agreement, as well as the Pearson's and concordance correlation coefficients, between systems. The obtained results show that an affordable, portable and non-invasive system based on an RGB-D camera can accurately obtain most of the studied gait parameters (excellent or good agreement for eleven spatiotemporal and one kinematic). This system can bring more objectivity to motor function assessment of polyneuropathy patients, potentially contributing to an improvement of TTR-FAP treatment and understanding, with great benefits to the patients' quality of life.


Asunto(s)
Neuropatías Amiloides Familiares/diagnóstico , Marcha/fisiología , Polineuropatías/diagnóstico , Fenómenos Biomecánicos , Humanos , Calidad de Vida
12.
Hum Mutat ; 39(10): 1314-1337, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30055037

RESUMEN

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 defects has been expanded to include milder and atypical cases, being now collectively known as LAMA2-related muscular dystrophies (LAMA2-MD). Through an international multicenter collaborative effort, 61 new LAMA2 disease-associated variants were identified in 86 patients, representing the largest number of patients and new disease-causing variants in a single report. The collaborative variant collection was supported by the LOVD-powered LAMA2 gene variant database (https://www.LOVD.nl/LAMA2), updated as part of this work. As of December 2017, the database contains 486 unique LAMA2 variants (309 disease-associated), obtained from direct submissions and literature reports. Database content was systematically reviewed and further insights concerning LAMA2-MD are presented. We focus on the impact of missense changes, especially the c.2461A > C (p.Thr821Pro) variant and its association with late-onset LAMA2-MD. Finally, we report diagnostically challenging cases, highlighting the relevance of modern genetic analysis in the characterization of clinically heterogeneous muscle diseases.


Asunto(s)
Estudios de Asociación Genética , Laminina/genética , Mutación , Fenotipo , Alelos , Biomarcadores , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Biología Computacional/métodos , Bases de Datos de Ácidos Nucleicos , Frecuencia de los Genes , Variación Genética , Genotipo , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética/métodos , Distrofias Musculares/diagnóstico , Distrofias Musculares/genética
13.
Ecology ; 99(12): 2875, 2018 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-30380155

RESUMEN

Butterflies are one of the best-known insect groups, and they have been the subject of numerous studies in ecology and evolution, especially in the tropics. Much attention has been given to the fruit-feeding butterfly guild in biodiversity conservation studies, due to the relative ease with which taxa may be identified and specimens sampled using bait traps. However, there remain many uncertainties about the macroecological and biogeographical patterns of butterflies in tropical ecosystems. In the present study, we gathered information about fruit-feeding butterfly species in local communities from the Atlantic Forests of South America. The ATLANTIC BUTTERFLIES data set, which is part of ATLANTIC SERIES data papers, results from a compilation of 145 unpublished inventories and 64 other references, including articles, theses, and book chapters published from 1949 to 2018. In total, the data set contains 7,062 records (presence) of 279 species of fruit-feeding butterflies identified with taxonomic certainty, from 122 study locations. The Satyrini is the tribe with highest number of species (45%) and records (30%), followed by Brassolini, with 13% of species and 12.5% of records. The 10 most common species correspond to 14.2% of all records. This data set represents a major effort to compile inventories of fruit-feeding butterfly communities, filling a knowledge gap about the diversity and distribution of these butterflies in the Atlantic Forest. We hope that the present data set can provide guidelines for future studies and planning of new inventories of fruit-feeding butterflies in this biome. The information presented here also has potential use in studies across a great variety of spatial scales, from local and landscape levels to macroecological research and biogeographical research. We expect that such studies be very important for the better implementation of conservation initiatives, and for understanding the multiple ecological processes that involve fruit-feeding butterflies as biological indicators. No copyright restrictions apply to the use of this data set. Please cite this Data paper when using the current data in publications or teaching events.

14.
Muscle Nerve ; 56(5): 901-911, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28063170

RESUMEN

INTRODUCTION: Polyneuropathy signs (Neuropathy Impairment Score, NIS), neurophysiologic tests (m+7Ionis ), disability, and health scores were assessed in baseline evaluations of 100 patients entered into an oligonucleotide familial amyloidotic polyneuropathy (FAP) trial. METHODS: We assessed: (1) Proficiency of grading neurologic signs and correlation with neurophysiologic tests, and (2) clinometric performance of modified NIS+7 neurophysiologic tests (mNIS+7Ionis ) and its subscores and correlation with disability and health scores. RESULTS: The mNIS+7Ionis sensitively detected, characterized, and broadly scaled diverse polyneuropathy impairments. Polyneuropathy signs (NIS and subscores) correlated with neurophysiology tests, disability, and health scores. Smart Somatotopic Quantitative Sensation Testing of heat as pain 5 provided a needed measure of small fiber involvement not adequately assessed by other tests. CONCLUSIONS: Specially trained neurologists accurately assessed neuropathy signs as compared to referenced neurophysiologic tests. The score, mNIS+7Ionis , broadly detected, characterized, and scaled polyneuropathy abnormality in FAP, which correlated with disability and health scores. Muscle Nerve 56: 901-911, 2017.


Asunto(s)
Neuropatías Amiloides Familiares/tratamiento farmacológico , Técnicas de Diagnóstico Neurológico , Neurólogos , Oligonucleótidos/uso terapéutico , Índice de Severidad de la Enfermedad , Adulto , Anciano , Anciano de 80 o más Años , Neuropatías Amiloides Familiares/diagnóstico , Neuropatías Amiloides Familiares/fisiopatología , Estudios de Cohortes , Evaluación de la Discapacidad , Femenino , Humanos , Cooperación Internacional , Masculino , Persona de Mediana Edad , Conducción Nerviosa/efectos de los fármacos , Conducción Nerviosa/fisiología , Evaluación de Resultado en la Atención de Salud
15.
J Clin Periodontol ; 44(9): 950-960, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-28453878

RESUMEN

AIM: Osseointegration of titanium implants is predictable, but can be improved via surface functionalization. MATERIALS AND METHODS: One hundred and twenty implants were installed in parietal bone of 12 domestic pigs and left to heal for 1 or 3 months. Five groups were defined according surface treatments: immersion in water (H2 O), 10% polyphosphoric acid (PPA10), 1% phosphorylated pullulan (PPL1), 10% phosphorylated pullulan (PPL10) or 10% phosphorylated pullulan + 1 µg bone morphogenetic protein-2 (PPL10 BMP). As primary outcome, implant osseointegration was evaluated by quantitative histology, namely peri-implant bone formation (B/T in %) and bone-to-implant contact (BIC in %) for each healing period. The Wilcoxon signed-rank test and Mann-Whitney U-test with α = 0.05 were performed. RESULTS: PPL10 and PPA10 groups showed significantly higher B/T and BIC results than the control (H2 O) group at 1-month (p < .05). No significant difference was found between PPL1 and H2 O or between PPL10 BMP and H2 O, irrespective of healing time (1 or 3 months) or investigated parameter (B/T and BIC; p > .05). After 3 months, no experimental group showed a significant difference compared to the control group (H2 O) for both investigated parameters (B/T and BIC; p > .05). CONCLUSION: Functionalizing titanium implants with inorganic or organic phosphate-containing polymers at 10 wt% concentration may stimulate peri-implant bone formation and implant osseointegration at early healing times.


Asunto(s)
Materiales Biocompatibles Revestidos/farmacología , Implantación Dental Endoósea/métodos , Implantes Dentales , Oseointegración/fisiología , Titanio/farmacología , Animales , Proteína Morfogenética Ósea 2/farmacología , Interfase Hueso-Implante , Diseño de Prótesis Dental , Glucanos/farmacología , Implantes Experimentales , Modelos Animales , Ácidos Fosfóricos/farmacología , Polímeros/farmacología , Cráneo/cirugía , Propiedades de Superficie , Colgajos Quirúrgicos , Porcinos
16.
Acta Neurochir (Wien) ; 158(9): 1793-800, 2016 09.
Artículo en Inglés | MEDLINE | ID: mdl-27260490

RESUMEN

BACKGROUND: The phrenic nerve can be transferred to the musculocutaneous nerve in patients with traumatic brachial plexus palsy in order to recover biceps strength, but the results are controversial. There is also a concern about pulmonary function after phrenic nerve transection. In this paper, we performed a qualitative systematic review, evaluating outcomes after this procedure. METHOD: A systematic review of published studies was undertaken in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement. Data were extracted from the selected papers and related to: publication, study design, outcome (biceps strength in accordance with BMRC and pulmonary function) and population. Study quality was assessed using the "strengthening the reporting of observational studies in epidemiology" (STROBE) standard or the CONSORT checklist, depending on the study design. RESULTS: Seven studies were selected for this systematic review after applying inclusion and exclusion criteria. One hundred twenty-four patients completed follow-up, and most of them were graded M3 or M4 (70.1 %) for biceps strength at the final evaluation. Pulmonary function was analyzed in five studies. It was not possible to perform a statistical comparison between studies because the authors used different parameters for evaluation. Most of the patients exhibited a decrease in pulmonary function tests immediately after surgery, with recovery in the following months. Study quality was determined using STROBE in six articles, and the global score varied from 8 to 21. CONCLUSIONS: Phrenic nerve transfer to the musculocutaneous nerve can recover biceps strength ≥M3 (BMRC) in most patients with traumatic brachial plexus injury. Early postoperative findings revealed that the development of pulmonary symptoms is rare, but it cannot be concluded that the procedure is safe because there is no study evaluating pulmonary function in old age.


Asunto(s)
Neuropatías del Plexo Braquial/cirugía , Plexo Braquial/lesiones , Nervio Musculocutáneo/cirugía , Transferencia de Nervios/métodos , Evaluación de Resultado en la Atención de Salud , Parálisis/cirugía , Nervio Frénico/cirugía , Humanos
17.
Exp Brain Res ; 233(9): 2587-96, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-26025613

RESUMEN

We analyzed the effects of an anesthetic sciatic nerve block on the cutaneomuscular reflex (cMR) and the cutaneous silent period (cSP) of foot muscles, in order to investigate further the type of fibers involved in their generation. In 14 neurologically normal patients with indication for surgical treatment of hallux valgus, we recorded from the extensor digitorum brevis muscle the reflex responses elicited by high-intensity electrical stimulation of the big toe at various time periods, ranging from 0 to 20 min, after ultrasound-guided sciatic nerve popliteal anesthetic block. The first effect was a delay in cSP onset latency, with no changes in end latency. The cMR remained unaltered up to when subjects were no longer able to maintain the contraction. The effects of local anesthetics on peripheral nerves allow for recognition of the different types of fibers contributing to the cMR and the cSP in muscles of the lower limb.


Asunto(s)
Pie , Mepivacaína/farmacología , Músculo Esquelético/efectos de los fármacos , Reflejo/efectos de los fármacos , Piel/inervación , Anciano , Anciano de 80 o más Años , Anestésicos Locales/farmacología , Estimulación Eléctrica , Electromiografía , Femenino , Lateralidad Funcional/efectos de los fármacos , Hallux Valgus/patología , Hallux Valgus/cirugía , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/fisiología , Tiempo de Reacción/efectos de los fármacos , Tiempo de Reacción/fisiología , Reflejo/fisiología , Nervio Ciático/efectos de los fármacos , Nervio Ciático/fisiología , Nervio Tibial/efectos de los fármacos , Nervio Tibial/fisiología
18.
Clin Oral Implants Res ; 26(2): 191-6, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24325598

RESUMEN

OBJECTIVE: To evaluate the effect of implant insertion torque on the peri-implant bone healing and implant osseointegration. MATERIAL AND METHODS: Bilaterally in the tibia of five adult New Zealand white rabbits, 20 implants were installed, subdivided into four groups, corresponding to two insertion torque conditions (low, < 10 Ncm vs. high > 50 Ncm) and 2 experimental periods (2 weeks vs. 4 weeks of healing). The implant insertion torque was determined by the surgical drill diameter relative to the implant diameter. Implant osseointegration was evaluated by quantitative histology (bone-to-implant contact with host bone [BIC-host], with neoformed bone [BIC-de novo], with both bone types [BIC-total], and peri-implant bone [BA/TA]). Every response was modelled over time using GEE (general estimation equation) with an unstructured variance-covariance matrix to correct for dependency between the measurements from one animal. The statistical significance level of α = 0.05 was applied. RESULTS: Significantly, more BIC-host and BIC-total were recorded for H implants compared with L implants after 2 week of healing (P = 0.010 and P = 0.0001, respectively). However, this result was no longer found for the extended healing period. Furthermore, BIC-total significantly increased over time for L implants (P < 0.00001). In contrast, the significant increase in BA/TA over time was found for H implants (P < 0.01). Finally, H insertion torque led to an increased BA/TA after 4 week of healing (P < 0.02) compared with the L insertion protocol. CONCLUSION: L insertion torque implants installed in the rabbit tibial bone osseointegrate with considerable de novo bone formation. This bone neoformation enables L implants to catch up, already during the early osseointegration stage, the initial inferior amount BIC contact compared with that of H implants. A negative impact of the created strain environment accompanying H insertion torque implant installation on the biological process of osseointegration could not be observed, at least not at tissue level.


Asunto(s)
Implantación Dental Endoósea/métodos , Implantes Dentales , Implantes Experimentales , Oseointegración , Tibia/cirugía , Animales , Masculino , Osteogénesis , Conejos , Estrés Mecánico , Tibia/patología , Titanio , Torque
19.
Clin Oral Implants Res ; 25(1): 91-100, 2014 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-23039076

RESUMEN

OBJECTIVES: Inorganic polyphosphates are said to stimulate the activity of osteoblast-like cells in vitro. The purpose of this study was to evaluate in vivo bone regeneration around implants treated with polyphosphoric acid (PPA) and phosphorylated pullulan (PPL). MATERIAL AND METHODS: Two types of implants with different surface roughness (R1: Sa ≈ 0.23 µm; R2: Sa ≈ 1.35 µm) were treated with three solutions (distilled water, 10%wt PPA, or 10%wt PPL) prior to implantation in both tibia of twelve female white rabbits. Each animal received six implants randomly positioned according to their surface roughness and treatment: R1 + water; R1 + PPA; R1 + PPL; R2 + water; R2 + PPA; R2 + PPL. Animals were sacrificed after 1 or 4 weeks, and samples were prepared for histological and histomorphometrical analysis. Bone regeneration areas were evaluated for bone-to-implant contact (BIC) and bone fraction (BF) in areas 100 and 500 µm remote from the implant surface. Data were statistically analyzed by means of Friedman and Wilcoxon matched-pair tests (P < 0.05). RESULTS: After 1 week, bone tissue was rarely formed in the regeneration areas. After 4 weeks, implants treated with PPA presented higher ratios of BIC (R1 = 52.3 ± 13.1; R2 = 54.6 ± 11.0) than the ones treated with water (R1 = 24.1 ± 15.1; R2 = 32.4 ± 13.0). On the other hand, around the implant surface (100 µm), PPL-treated implants induced higher BF (R1 = 78.3 ± 34.1; R2 = 71.2 ± 21.8) as compared with the water-treated ones (R1 = 46.1 ± 22.0; R2 = 49.6 ± 21.0). At 500 µm, however, no statistically significant differences in BF were found among the groups evaluated (P > 0.05). Surface roughness influenced neither BIC nor BF. CONCLUSIONS: Implant surface treatment with phosphate-containing polymers may positively influence osseointegration.


Asunto(s)
Implantes Dentales , Glucanos/farmacología , Implantes Experimentales , Oseointegración/efectos de los fármacos , Ácidos Fosfóricos/farmacología , Polímeros/farmacología , Animales , Regeneración Ósea , Femenino , Microscopía Electrónica de Rastreo , Conejos , Propiedades de Superficie , Tibia , Titanio
20.
Proc Natl Acad Sci U S A ; 108(49): 19666-71, 2011 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-22084094

RESUMEN

The mimetic butterflies Heliconius erato and Heliconius melpomene have undergone parallel radiations to form a near-identical patchwork of over 20 different wing-pattern races across the Neotropics. Previous molecular phylogenetic work on these radiations has suggested that similar but geographically disjunct color patterns arose multiple times independently in each species. The neutral markers used in these studies, however, can move freely across color pattern boundaries, and therefore might not represent the history of the adaptive traits as accurately as markers linked to color pattern genes. To assess the evolutionary histories across different loci, we compared relationships among races within H. erato and within H. melpomene using a series of unlinked genes, genes linked to color pattern loci, and optix, a gene recently shown to control red color-pattern variation. We found that although unlinked genes partition populations by geographic region, optix had a different history, structuring lineages by red color patterns and supporting a single origin of red-rayed patterns within each species. Genes closely linked (80-250 kb) to optix exhibited only weak associations with color pattern. This study empirically demonstrates the necessity of examining phenotype-determining genomic regions to understand the history of adaptive change in rapidly radiating lineages. With these refined relationships, we resolve a long-standing debate about the origins of the races within each species, supporting the hypothesis that the red-rayed Amazonian pattern evolved recently and expanded, causing disjunctions of more ancestral patterns.


Asunto(s)
Mariposas Diurnas/genética , Variación Genética , Filogenia , Alas de Animales/metabolismo , Animales , Mariposas Diurnas/clasificación , Región del Caribe , Núcleo Celular/genética , Análisis por Conglomerados , ADN Mitocondrial/química , ADN Mitocondrial/genética , Genes de Insecto/genética , Geografía , Haplotipos , Datos de Secuencia Molecular , Fenotipo , Pigmentación/genética , Análisis de Secuencia de ADN , América del Sur , Especificidad de la Especie
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