RESUMEN
The current manuscript presents the convergence of the Dimensional Assessment of Personality Pathology (DAPP-BQ), using its short form the DAPP-90, and the Five-Factor Personality Inventory for International Classification of Diseases (ICD-11), the FFiCD, in the context of the five-factor personality model and the categorical approach of personality disorders (PDs). The current manuscript compares the predictive validity of both the FFiCD and the DAPP-90 regarding personality disorder scales and clusters. Results demonstrate a very high and meaningful convergence between the DAPP-90 and the FFiCD personality pathology models and a strong alignment with the FFM. The DAPP-90 and the FFiCD also present an almost identical predictive power of PDs. The DAPP-90 accounts for between 18% and 47%, and the FFiCD between 21% and 47% of PDs adjusted variance. It is concluded that both DAPP-90 and FFiCD questionnaires measure strongly similar pathological personality traits that could be described within the frame of the FFM. Additionally, both questionnaires predict a very similar percentage of the variance of personality disorders.
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Clasificación Internacional de Enfermedades , Trastornos de la Personalidad , Inventario de Personalidad , Humanos , Trastornos de la Personalidad/diagnóstico , Trastornos de la Personalidad/clasificación , Inventario de Personalidad/estadística & datos numéricos , Inventario de Personalidad/normas , Masculino , Femenino , Adulto , Psicometría , Modelos Psicológicos , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Determinación de la Personalidad/estadística & datos numéricos , Determinación de la Personalidad/normas , Personalidad , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica/normasRESUMEN
PURPOSE: This study investigated the associations of personality traits and preoperative lifestyle improvements with early weight loss after sleeve gastrectomy. METHODS: This was a single-center, retrospective study of 57 patients who underwent preoperative lifestyle intervention with a multidisciplinary team approach based on cognitive behavioral therapy before sleeve gastrectomy. All patients underwent preoperative psychological testing with the Neuroticism-Extraversion-Openness Five-Factor Inventory (NEO-FFI) and the Tokyo University Egogram New Version II (TEG II). We investigated the associations of psychological testing results and lifestyle improvements with percent total weight loss (%TWL) one year after surgery. RESULTS: The median %TWL at 1 year was 38.2% for patients with an improved lifestyle and 26.9% for those without improvement (P = 0.0008). Although TEG II factors were not associated with %TWL at 1 year, higher NEO-FFI extraversion (E) scores were significantly associated with a better %TWL at 1 year. The median %TWL at 1 year was 35.2% for patients with higher E scores and 25.4% for those with lower E scores (P = 0.0247). Lifestyle improvement and the NEO-FFI E score significantly influenced %TWL at 1 year based on a logistic regression analysis. CONCLUSION: The NEO-FFI E score and preoperative lifestyle improvement may be predictors of early weight loss after sleeve gastrectomy.
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Laparoscopía , Obesidad Mórbida , Humanos , Obesidad Mórbida/cirugía , Estudios Retrospectivos , Resultado del Tratamiento , Estilo de Vida , Gastrectomía/métodos , Pérdida de Peso , Laparoscopía/métodos , PersonalidadRESUMEN
Drug addiction is a chronic biochemical drug use disorder that affects the human brain and behavior and leads to the uncontrolled use of legal or illicit drugs. It has been shown that three factors are involved in the development of addiction: genetic factors, a diverse environment, and the effect of medication on gene expression. The comprehensive approach and holistic analysis of the problem are due to the multigenic and multifactorial nature of addiction. Dopamine, one of the major neurotransmitters in the brain, is believed to be the "culprit" that leads to a drug abuse-induced "high". That is why, in our research, we focused mainly on the genes related to dopaminergic reuptake. In the present study, we chose methylation of the DAT1 dopamine transporter gene based on molecular reasons related to the dopaminergic theory of addiction. This study included two groups: 226 stimulant-dependent and 290 non-stimulant-dependent subjects. The analysis consisted of a case-control comparison of people addicted to psychostimulants compared to a control group of healthy and non-addicted people. There were differences in the levels of statistical significance between the groups. Our research shows lower methylation of islands 1, 9, and 14 in addicted people and greater methylation of islands 32 and 33. The difference in individual CpG methylation islands of the gene under study provides valuable information about the DNA methylation process in patients addicted to psychostimulants. Pearson's linear correlation analysis in stimulant dependence showed a negative correlation between total methylation island levels and the NEO-FFI Neuroticism scale. In subjects with neuroticism, the methylation level was statistically significantly lower. Pearson's linear correlation analysis of stimulant-dependent subjects showed a positive correlation between total methylation island levels and the NEO-FFI Openness scale and the NEO-FFI Conscientiousness scale.
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Estimulantes del Sistema Nervioso Central , Drogas Ilícitas , Humanos , Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/genética , Metilación de ADN , Dopamina , Personalidad/genéticaRESUMEN
INTRODUCTION: Even though an increased interest in the use of the EFAS Score (European Foot and Ankle Society) has been observed, no data comparing it with radiological findings has been presented in the literature. Accordingly, the aim of this study is to investigate how the post-operative integration of the AMIC® (autologous matrix-induced chondrogenesis)-membrane for osteochondral lesion of the talus using the MOCART (Magnetic Resonance Observation of Cartilage Repair Tissue) - Score is related to the clinical satisfaction of the patients. MATERIAL AND METHODS: A group of 24 patients aged between 17 and 63 (with a mean age of 35.7) were included at least 1 year post-operatively. They had all undergone an AMIC®-procedure of the talus. MRI findings using the MOCART Score were correlated to the EFAS Score at the same time point. RESULTS: Our main results showed no correlation between the MOCART-Score and the EFAS-Score (R = - 0.08). There was also no correlation between the MOCART-Score, the FFI-Score (Foot and Function Index) (R = 0.2) and the MOXFQ-Score (Manchester-Oxford Foot Questionnaire) (R = 0.12). There was no correlation between components of the MOCART-Score with the EFAS-Score (R between - 0.32 and 0.23). CONCLUSION: Our results question whether the MRI (a standard part of AMIC®-procedure-of-the-ankle post-operative follow-up) is still the most appropriate tool for post-operative control. They also offer a starting point for future discussion regarding the need for post-operative MRI and the use of other radiological diagnostics in relation to clinical satisfaction.
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Cartílago Articular , Fracturas Intraarticulares , Astrágalo , Humanos , Adolescente , Adulto Joven , Adulto , Persona de Mediana Edad , Astrágalo/diagnóstico por imagen , Astrágalo/cirugía , Resultado del Tratamiento , Trasplante Autólogo/métodos , Imagen por Resonancia Magnética/métodos , Extremidad Inferior , Cartílago Articular/diagnóstico por imagen , Cartílago Articular/cirugíaRESUMEN
Few prior studies have compared the patient reported outcomes of first metatarsophalangeal arthrodesis between hallux rigidus and hallux valgus patients. Furthermore, we sought to examine the impact of postoperative radiographic hallux alignment on outcomes scores within each group. A retrospective review of 98 patients who a received primary metatarsophalangeal arthrodesis from January 2010 to March 2020. Clinical complications including nonunion were collected. Patient Reported Outcomes Measurement Information Systems (PROMIS) Physical Function, PROMIS Pain Interference, and the foot function index (FFI) revised short form scores were obtained via telephone. Patients were grouped based on review of preoperative radiographs of the foot and this grouping 37 hallux rigidus and 61 hallux valgus patients. Clinical and patient reported outcomes were compared between these pathologies. No differences in the rate of wound complications, radiographic union, and revision surgery were found between the 2 subgroups. At a median of 2.4 years (3.9 IQR) postoperatively, PROMIS and FFI scores did not vary by pathology group. For both groups, PROMIS scores were similar to the general population of the United States. The postoperative first MTP dorsiflexion angle in the hallux rigidus group was correlated with decreased FFI Pain, FFI Total, and PROMIS Pain Interference domain scores (|r| ≥ 0.40, p < .05 for all). When performing MTP arthrodesis in patients with hallux rigidus, increasing the first MTP dorsiflexion angle may correlate with improved intermediate term patient reported outcomes. However, further studies will need to be done to confirm this theoretical relationship.
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Juanete , Hallux Rigidus , Hallux Valgus , Articulación Metatarsofalángica , Humanos , Hallux Valgus/diagnóstico por imagen , Hallux Valgus/cirugía , Hallux Rigidus/diagnóstico por imagen , Hallux Rigidus/cirugía , Resultado del Tratamiento , Articulación Metatarsofalángica/diagnóstico por imagen , Articulación Metatarsofalángica/cirugía , Artrodesis , Dolor , Estudios Retrospectivos , Medición de Resultados Informados por el PacienteRESUMEN
OBJECTIVES: This longitudinal within subject controlled randomized observational investigation studied the impacts of three-sided sonic-powered toothbrush versus conventional manual toothbrush on oral health- and oral health-related quality of life (OHRQoL) and assessed the relationship between personality factors and OHRQoL. METHODS: A total of 96 participants (48 females and 48 males; mean age = 22.61 years, SD = 1.21) were recruited into this investigation and were randomly allocated into two groups. The participants were instructed to control oral hygiene for 1 month using either a three-sided sonic brush (Triple Bristle, Dayton, Tennessee, USA) (sonic group) or a conventional manual toothbrush (manual group). Dental plaque was assessed via Turesky-Modified Quigley-Hein Plaque Index (TMQHPI). Bleeding on probing (BOP) was recorded as 1 if present and zero if absent. The NEO Five-Factor Inventory (NEO-FFI) and Oral Health Impact Profile (OHIP-14) were used to assess personality factors and OHRQoL, respectively. TMQHPI, BOP and OHIP were assessed at study baseline and 1 month later. RESULTS: The TMQHPI, BOP and OHIP-14 scores were reduced after 1 month in both groups (p < 0.05), and were more reduced among the three-sided sonic brush users (p > 0.05). Higher neuroticism scores were associated with worse OHRQoL (p < 0.05) in both groups after 1 month. CONCLUSIONS: The three-sided sonic-powered toothbrush was associated with superior oral health and OHRQoL in comparison with the conventional manual toothbrush. Utilizing three-sided sonic toothbrush, less plaque deposits and lower neuroticism scores contributed towards and predicted better OHRQoL after 1 month of oral hygiene maintenance.
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Placa Dental , Gingivitis , Masculino , Femenino , Humanos , Adulto Joven , Adulto , Salud Bucal , Calidad de Vida , Placa Dental/prevención & control , Método Simple Ciego , Cepillado Dental , Índice de Placa Dental , Diseño de Equipo , PersonalidadRESUMEN
Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the prion protein gene, PRNP. Rarity and phenotypic variability complicate diagnosis, often obscuring family history and leaving families unprepared for the genetic implications of an index case. Several recent developments inspire this update in best practices for prion disease genetic counseling. A new prion-detection assay has transformed symptomatic diagnosis. Meanwhile, penetrance, age of onset, and duration of illness have been systematically characterized across PRNP variants in a global cohort. Clinically, the traditional genotype-phenotype correlation has weakened over time, and the term genetic prion disease may now better serve providers than the historical subtypes Creutzfeldt-Jakob disease, fatal familial insomnia, and Gerstmann-Sträussler-Scheinker disease. Finally, in the age of genetically targeted therapies, clinical trials for prion disease are being envisaged, and healthy at-risk individuals may be best positioned to benefit. Such individuals need to be able to access clinical services for genetic counseling and testing. Thus, this update on the genetics of prion disease and best practices for genetic counseling for this disease aims to provide the information needed to expand genetic counseling services.
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Enfermedades Neurodegenerativas , Enfermedades por Prión , Priones , Asesoramiento Genético , Humanos , Enfermedades por Prión/diagnóstico , Enfermedades por Prión/genética , Proteínas Priónicas/genética , Priones/genéticaRESUMEN
Fatal Familial Insomnia (FFI) is an uncommon but fatal genetic condition that is characterized by severe progressive insomnia, dysautonomia, neuropsychiatric changes, and gait instability. Diagnostic workup includes genetic testing, EEG, MRI imaging of the brain, polysomnography, and CSF analysis. MRI brain imaging may be notable for areas of restricted diffusion in the thalamus. Therapeutic approaches are centered on symptom management, predominantly for insomnia. It is important for clinicians to consider FFI in patients presenting with progressive insomnia, cognitive deficits, and gait instability, and to direct patients and families toward genetic counseling and palliative care services.
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Insomnio Familiar Fatal , Priones , Trastornos del Inicio y del Mantenimiento del Sueño , Encéfalo/metabolismo , Humanos , Insomnio Familiar Fatal/diagnóstico , Insomnio Familiar Fatal/genética , Insomnio Familiar Fatal/terapia , Neuroimagen , Priones/genética , Priones/metabolismo , Trastornos del Inicio y del Mantenimiento del Sueño/diagnóstico , Trastornos del Inicio y del Mantenimiento del Sueño/etiología , Trastornos del Inicio y del Mantenimiento del Sueño/terapiaRESUMEN
INTRODUCTION: People with personality disorders (PDs) have an elevated suicide risk. However, correlates of suicidal ideation (SI) and suicide attempts (SA) remain largely unknown in this population. A growing body of literature highlights the contribution of the Big Five personality traits in suicide-outcomes. Therefore, the present study investigates the association between the Big Five personality traits and SI and SA in people with PDs while applying the ideation-to-action framework. METHOD: Data were obtained from 105 treatment-seeking individuals diagnosed with PDs participating in the Trauma tO Personality Spectrum Study (TOPSS). Multinomial logistic regression analyses were used to analyze the association between the NEO Five-Factor Inventory and the three category suicide-outcome: non-suicidal, SI, and SA. RESULTS: After controlling for age, gender, a comorbid depressive disorder, the severity of borderline manifestations, and other personality traits from the Big Five taxonomy, significantly lower levels of extraversion were observed in participants with SI compared to non-suicidal participants (OR = 0.27, 95% CI 0.10-0.72) but not in SA participants. In contrast, higher levels of extraversion were associated with SA when compared to SI (OR = 3.52, 95% CI 1.33-9.32). Other Big Five traits were not independently associated with suicide-outcomes. CONCLUSIONS: Of the Big Five traits, the introversion-extraversion dimension most clearly distinguishes individuals with SI from non-suicidal individuals, as well as those with a SA in the past from those with SI only. Prospective studies are required to investigate if this personality trait can predict the progression from being non-suicidal to having SI and from having SI to performing an attempt.
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Ideación Suicida , Intento de Suicidio , Humanos , Personalidad , Trastornos de la Personalidad/diagnóstico , Trastornos de la Personalidad/epidemiología , Estudios Prospectivos , Factores de RiesgoRESUMEN
BACKGROUND: Foot disorders affect up to one quarter of the adult population. Plantar fasciopathy is a common cause of foot pain associated with decreased activity level and quality of life. Patient-reported outcome measures are important in assessing the burden of a condition as well as in research on the effects of interventions. The Foot Function Index revised short form (FFI-RS) is a region specific questionnaire frequently used in research. This study aimed to cross-culturally adapt the FFI-RS into Norwegian and to test its psychometric properties. METHODS: The FFI-RS was translated into Norwegian (FFI-RSN) following international guidelines. 139 patients with foot disorders (88% with plantar fasciopathy) were included at baseline to measure internal consistency, explorative factor analysis, construct validity and floor and ceiling effects. 54 patients were included after 1 week for test-retest reliability and smallest detectable change analyses. 100 patients were included for responsiveness and minimal important change at 3 months. RESULTS: Cronbach's alpha for internal consistency was 0.97 and factor analysis supported the use of the total score of the FFI-RSN. Two out of three predefined hypotheses were confirmed by assessing the construct validity with Spearman's correlation coefficient. Quadratic weighted Kappa for test-retest reliability showed 0.91 (95% CI 0.86-0.96) and the smallest detectable change was 6.5%. The minimal important change was 8.4% and the area under the receiver operating characteristic curve for responsiveness was 0.78 (95% CI 0.69-0.87). We found no floor or ceiling effects on the total score of the FFI-RSN. CONCLUSIONS: The present study showed excellent reliability of the FFI-RSN and supports the use of the total score of the questionnaire. Furthermore, we found the FFI-RSN to have acceptable responsiveness in relation to change in general health. Smallest detectable change, minimal important change and responsiveness were presented as novel results of the total score of the FFI-RS. FFI-RSN can be used to evaluate global foot health in clinical or research settings with Norwegian patients suffering from plantar fasciopathy. TRIAL REGISTRATION: Clinical Trials.gov NCT04207164 . Initial release 01.11.19.
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Fascitis Plantar , Adulto , Humanos , Psicometría/métodos , Calidad de Vida , Reproducibilidad de los Resultados , Encuestas y CuestionariosRESUMEN
Prion gene (PRNP) mutations are associated with diverse disease phenotypes, including familiar Creutzfeldt-Jakob Disease (CJD), Gerstmann-Sträussler-Scheinker disease (GSS), and fatal familial insomnia (FFI). Interestingly, PRNP mutations have been reported in patients diagnosed with Alzheimer's disease, dementia with Lewy bodies, Parkinson's disease, and frontotemporal dementia. In this review, we describe prion mutations in Asian countries, including Republic of Republic of Korea, China, and Japan. Clinical phenotypes and imaging data related to these mutations have also been introduced in detail. Several prion mutations are specific to Asians and have rarely been reported in countries outside Asia. For example, PRNP V180I and M232R, which are rare in other countries, are frequently detected in Republic of Korea and Japan. PRNP T188K is common in China, and E200K is significantly more common among Libyan Jews in Israel. The A117V mutation has not been detected in any Asian population, although it is commonly reported among European GSS patients. In addition, V210I or octapeptide insertion is common among European CJD patients, but relatively rare among Asian patients. The reason for these differences may be geographical or ethical isolation. In terms of clinical phenotypes, V180I, P102L, and E200K present diverse clinical symptoms with disease duration, which could be due to other genetic and environmental influences. For example, rs189305274 in the ACO1 gene may be associated with neuroprotective effects in cases of V180I mutation, leading to longer disease survival. Additional neuroprotective variants may be possible in cases featuring the E200K mutation, such as KLKB1, KARS, NRXN2, LAMA3, or CYP4X1. E219K has been suggested to modify the disease course in cases featuring the P102L mutation, as it may result in the absence of prion protein-positive plaques in tissue stained with Congo red. However, these studies analyzed only a few patients and may be too preliminary. The findings need to be verified in studies with larger sample sizes or in other populations. It would be interesting to probe additional genetic factors that cause disease progression or act as neuroprotective factors. Further studies are needed on genetic modifiers working with prions and alterations from mutations.
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Síndrome de Creutzfeldt-Jakob , Enfermedad de Gerstmann-Straussler-Scheinker , Enfermedades por Prión , Priones , Humanos , Priones/genética , Enfermedades por Prión/genética , Enfermedades por Prión/diagnóstico , Japón/epidemiología , Proteínas Priónicas/genética , Enfermedad de Gerstmann-Straussler-Scheinker/genética , Síndrome de Creutzfeldt-Jakob/genética , MutaciónRESUMEN
BACKGROUND: In 2011, the European Foot and Ankle Society developed a Score (EFAS Score) to generate a standardized questionnaire for several European languages. The aim of this study is to analyse how the newly defined score correlates with already established function scores. METHODS: This study is a monocentric prospective study. The questionnaires were completed at least 12 months postoperatively at the same time point. All patients had undergone surgery with the Autologous Matrix-Induced Chondrogenesis® procedure for osteochondral lesions of the talus. RESULTS: A total of 69 patients (33 women, 36 men) participated in the study. The EFAS Score correlates very strongly with the Manchester-Oxford Foot Questionnaire (MOXFQ) and strongly with the Foot Function Index (FFI). CONCLUSION: This study shows that the EFAS Score correlates significantly with the FFI and the MOXFQ. The EFAS seems to be a more patient-friendly alternative due to fewer questions and response choices.
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Cartílago Articular , Fracturas Intraarticulares , Astrágalo , Tobillo , Cartílago , Cartílago Articular/cirugía , Femenino , Humanos , Masculino , Estudios Prospectivos , Encuestas y Cuestionarios , Astrágalo/patología , Astrágalo/cirugía , Trasplante Autólogo/métodos , Resultado del TratamientoRESUMEN
BACKGROUND: The studies evaluating the outcomes of treatment of purely ligamentous unstable Lisfranc injuries are scarce. This study aimed at comparing outcomes of primary tarso-metatarsal joints fusion versus open reduction and internal fixation in treatment of such condition and determining the possible factors that may alter the outcomes. METHODS: This study comprised 30 patients; 16 in fusion group and 14 in ORIF group. One column was operated on in 2 patients, two columns in 21, and three columns in 7. The mean follow-up period was 36 months. RESULTS: There was no statistically significant difference between both groups regarding patients or injury characteristics. The mean AOFAS and FFI-Rs scores were 88.9 and 22.7 in the fusion group, compared to 61.7 and 34.5 in the ORIF group (P = .03,.04 respectively). At final follow-up all patients in the primary arthrodesis group were maintaining an anatomical reduction versus 71.5% in the ORIF group. Sixteen patients (53%) reported prominent hardware troubles that required removal. Five patients in ORIF group developed osteoarthritis, and four of them underwent secondary fusion. There was significantly higher incidence of posttraumatic osteoarthritis in patients with non-anatomical reduction and complete injuries. Better mean AOFAS and FFI-Rs scores occurred with non-smokers and with anatomical reduction. CONCLUSION: Based on this limited case series, purely ligamentous Lisfranc injuries were found to have better outcomes when managed with a primary fusion as compared to ORIF. Achieving and maintaining anatomical reduction was the most important factor that is significantly attributed to improved outcomes. Possible arthritic changes and additional surgeries apart from implant removal could be avoided by primary fusion. LEVEL OF EVIDENCE: level I- prospective comparative case study.
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Fracturas Óseas , Osteoartritis , Artrodesis , Fijación Interna de Fracturas , Fracturas Óseas/diagnóstico por imagen , Fracturas Óseas/cirugía , Humanos , Reducción Abierta , Estudios Prospectivos , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
BACKGROUND: There is little evidence available regarding the impact of Achilles Tendinopathy (AT) on health-related quality of life (HRQOL). The primary aim of this study was to quantify the clinical and health-related quality-of-life patient-reported outcome measures for a population presenting with either mid-substance or insertional Achilles tendinopathy. METHODS: A prospective comparative observational study of consecutive patients with AT presenting for extracorporeal shockwave therapy (ESWT) at a large teaching hospital. The primary outcome was assessment of a validated health-related quality of life PROMs (Euroqol EQ-5D-5L) and comparison to 2 general UK population datasets. The secondary outcomes were Visual Analogue Pain Scale (VAS-Pain) and two validated foot-specific patient reported outcome measures (Foot Function Index (FFI) and Victorian Institute of Sports Assessment-Achilles (VISA-A)). RESULTS: Between March 2014 and June 2021, 320 consecutive patients (125 male; 195 female) were diagnosed with AT and referred for a first course of ESWT. EQ-5D-5L PROMs were prospectively collected for 303 of these patients (94.7%). The mean age (± standard deviation(SD)) was 52.1 ± 11.4 years. The mean EQ-5D-5L Index score (mean±SD) for the AT cohort was 0.783 ± 0.131. Patients less than 55 years with AT had a statistically significantly worse quality of life compared with members of the same age group in the general population. The mean VAS-Pain, FFI, VISA-A clinical outcome scores were 6.0 ± 2.3, 49.5 ± 21.2 and 34.1 ± 14.4 respectively. There was a statistically significant moderate correlation between HRQOL and clinical PROMs (VAS-Pain and FFI vs EQ-5D) however there was no correlation with age. CONCLUSION: This study demonstrates that patients under the age of 55 with AT have a significantly reduced quality of life compared with the general population. LEVEL OF EVIDENCE: III.
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Tendón Calcáneo , Tendinopatía , Femenino , Humanos , Masculino , Dolor , Estudios Prospectivos , Calidad de Vida , Encuestas y Cuestionarios , Tendinopatía/terapiaRESUMEN
The current classification of sporadic Creutzfeldt-Jakob disease (sCJD) includes six major clinicopathological subtypes defined by the physicochemical properties of the protease-resistant core of the pathologic prion protein (PrPSc), defining two major PrPSc types (i.e., 1 and 2), and the methionine (M)/valine (V) polymorphic codon 129 of the prion protein gene (PRNP). How these sCJD subtypes relate to the well-documented phenotypic heterogeneity of genetic CJD (gCJD) is not fully understood. We analyzed molecular and phenotypic features in 208 individuals affected by gCJD, carrying 17 different mutations, and compared them with those of a large series of sCJD cases. We identified six major groups of gCJD based on the combination PrPSc type and codon 129 genotype on PRNP mutated allele, each showing distinctive histopathological characteristics, irrespectively of the PRNP associated mutation. Five gCJD groups, named M1, M2C, M2T, V1, and V2, largely reproduced those previously described in sCJD subtypes. The sixth group shared phenotypic traits with the V2 group and was only detected in patients carrying the E200K-129M haplotype in association with a PrPSc type of intermediate size ("i") between type 1 and type 2. Additional mutation-specific effects involved the pattern of PrP deposition (e.g., a "thickened" synaptic pattern in E200K carriers, cerebellar "stripe-like linear granular deposits" in those with insertion mutations, and intraneuronal globular dots in E200K-V2 or -M"i"). A few isolated cases linked to rare PRNP haplotypes (e.g., T183A-129M), showed atypical phenotypic features, which prevented their classification into the six major groups. The phenotypic variability of gCJD is mostly consistent with that previously found in sCJD. As in sCJD, the codon 129 genotype and physicochemical properties of PrPSc significantly correlated with the phenotypic variability of gCJD. The most common mutations linked to CJD appear to have a variable and overall less significant effect on the disease phenotype, but they significantly influence disease susceptibility often in a strain-specific manner. The criteria currently used for sCJD subtypes can be expanded and adapted to gCJD to provide an updated classification of the disease with a molecular basis.
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Síndrome de Creutzfeldt-Jakob/genética , Síndrome de Creutzfeldt-Jakob/patología , Insomnio Familiar Fatal/genética , Mutación/genética , Proteínas PrPSc/genética , Proteínas Priónicas/genética , Adulto , Anciano , Codón , Estudios de Cohortes , Femenino , Genotipo , Humanos , Insomnio Familiar Fatal/patología , Masculino , Persona de Mediana Edad , FenotipoRESUMEN
The purpose of this study was a cross-cultural examination of centenarians' personality through a person-centered approach to examine if there is a "resilient" personality profile consistent across cultures. Proxy reports information was obtained from family and close friends of 239 U.S. centenarians from the Georgia Centenarians Study and 272 Japanese centenarians from the Tokyo Centenarian Study. Latent profile analyses were conducted to identify personality profiles in centenarians from the United States and Japan. Two personality profiles were identified in both samples: a "resilient" personality profile and "nonresilient" personality profile. The "resilient" group had higher levels of positive personality traits with higher scores on agreeableness and extraversion and lower scores on neuroticism, conscientiousness, and openness. The "nonresilient" group had higher scores on neuroticism and lower scores on extraversion, openness, agreeableness, and conscientiousness. Fifty percent of U.S. centenarians and 65% of Japanese centenarians were in the "resilient" group.
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Anciano de 80 o más Años/psicología , Comparación Transcultural , Personalidad , Anciano de 80 o más Años/estadística & datos numéricos , Extraversión Psicológica , Femenino , Humanos , Japón , Masculino , Neuroticismo , Optimismo , Resiliencia Psicológica , Estados UnidosRESUMEN
BACKGROUND: Perception is defined as the ability to distinguish through the senses. All perception is dependent on factors such as personality, previously lived experiences and cultural elements. When planning an aesthetic treatment, consider the way the patients perceive the changes and outcomes is essential for reaching their expectations. The objective of this study was to assess if there was predominance of a personality trait of patient undergoing dental bleaching and if this treatment could promote changes in this traits, in the psychosocial impact and quality of life of these individuals. METHODS: The assessment of personality characteristics, quality of life, psychosocial and self-perception was a cross-sectional observational study and it was carried out by applying questionnaires to 55 patients that were submitted to a clinical phase. The psychometric instruments used were NEO FFI-R (personality), PIDAQ (psychosocial effect) and WHOQOL-BREF (quality of life). Each test domain was prior and after bleaching by Wilcoxon Signed Rank test (α = 0.05). The internal consistencies of each scale were evaluated by Cronbach's alpha. RESULTS: No statistical significant differences among personality traits means were observed among participants but there was predominance of two predominant personality traits in this study: conscientiousness (45.5%) and extraversion (34.5%). In four test domains of the PIDAQ, significant differences were observed before and after dental bleaching. The overall perception of the PIDAQ was also statistically significant demonstrating an improvement. There were no differences on overall or specific domains scores of the WHOQOL before and after treatment. CONCLUSIONS: Subjects who underwent dental treatment improved their self-confidence and reduced concerns about dental aesthetics, social and personality impact of dental alterations. TRIAL REGISTRATION: This study was conducted in parallel to a clinical investigation that aimed to evaluate tooth sensitivity related to dental bleaching technique and registered in REBEC clinical registry under protocol RBR-6pt2n3 in 13 November 2013.
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Estética Dental , Calidad de Vida , Estudios Transversales , Humanos , Personalidad , Encuestas y CuestionariosRESUMEN
BACKGROUND: The aim of this study is to systematically review the literature on clinical outcomes of patients who have undergone autologous matrix-induced chondrogenesis (AMIC) for treatment of osteochondral lesions of the talus (OCL) and compare the studies' outcomes. METHODS: Pubmed and Embase were searched in January 2020 for articles concerning OCL surgery. Studies were included if they had a minimum 1-year follow-up and the primary measures were functional outcomes. The meta-analysis compared the Visual Analogic Score (VAS), the American Orthopedic Foot and Ankle Score (AOFAS), and the Foot Function Index (FFI) between baseline and follow-up of 1-2years, and 3-5years. A random effects model was used to evaluate outcome changes. RESULTS: The search returned 15 studies, with a total of 492 patients. The VAS improved 4.45 and 4.6 points from baseline to the 1-2year and 3-5yearfollow-up, respectively (p<0.001). AOFAS improved 31.59 and 32.47 points from baseline to the 1-2year and 3-5yearfollow-up, respectively (p<0.001). The FFI showed a significant improvement of 30.93 points from baseline to year 3-5 (p<0.001). A total of 6 patients with revision surgeries have been reported within the follow up period. It was not possible to correlate clinical features like lesion size, surgical approach, and bone marrow stimulation technique to the reported outcome. CONCLUSION: Surgical treatment of OCL via the AMIC procedure provided significant improvement in the functional outcome and pain scores when compared to the pre-operative values. Improvements were observed up to 5years post-operatively.
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Traumatismos del Tobillo/cirugía , Articulación del Tobillo/cirugía , Condrogénesis , Astrágalo/cirugía , Trasplante Autólogo/efectos adversos , Trasplante Autólogo/métodos , Adolescente , Adulto , Anciano , Articulación del Tobillo/patología , Cartílago Articular/cirugía , Niño , Femenino , Estudios de Seguimiento , Humanos , Fracturas Intraarticulares/cirugía , Masculino , Persona de Mediana Edad , Reoperación , Astrágalo/patología , Resultado del Tratamiento , Escala Visual Analógica , Adulto JovenRESUMEN
PURPOSE: Plantar fasciitis is a frequent and painful condition with a lifetime incidence of 10%. Good results have been reported for operative treatment of plantar fasciitis refractory to non-surgical interventions in uncontrolled studies. The aim of this study was to compare the results of operative treatment (endoscopic debridement, removal of the heel spur and partial resection of the plantar fascia) with those of a controlled and supervised non-operative rehabilitation program. METHODS: Thirty consecutive patients with plantar fasciitis during more than 3 months were randomized to either (1) non-operative treatment with corticosteroid injections and a controlled strength training program or (2) an endoscopic 2-incision operation with partial fasciotomy and heel spur removal followed by the same strength training program. Patients were evaluated at entry and 3, 6, 12 and 24 months post-operatively with the foot function index (FFI) and pain score during activity on a 100 mm VAS scale (VAS activity). FFI at 6 and 12 months was defined a priori as primary endpoint. RESULTS: Both groups improved significantly over time. The FFI score was significantly better in the operated group compared to the non-surgically treated group 12 months post-operatively (p = 0.033), at 24 months this was, however, not significant (p = 0.06). VAS activity at 24 months was significantly (p = 0.001) in favor of the operative group. More patients returned to running and jumping in the operative group (p = 0.04). CONCLUSION: This randomized controlled trial found significant and clinically relevant superior results for the operative treatment of plantar fasciitis as measured by Foot Function Index at 1 year and by VAS activity at 2-year follow-up when compared to the results of a supervised rehabilitation program. LEVEL OF EVIDENCE: I.
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Endoscopía/métodos , Fascitis Plantar/cirugía , Fasciotomía/métodos , Adulto , Anciano , Terapia por Ejercicio/métodos , Fascitis Plantar/fisiopatología , Fascitis Plantar/terapia , Femenino , Pie/fisiología , Glucocorticoides/uso terapéutico , Humanos , Inyecciones Intralesiones , Masculino , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Dimensión del Dolor , Entrenamiento de Fuerza , Resultado del TratamientoRESUMEN
Vitamin E, a natural antioxidant, is of interest to scientists, health care pundits and faddists; its nutritional and biomedical attributes may be validated, anecdotal or fantasy. Vitamin E is a mixture of tocopherols (TPs) and tocotrienols (T-3s), each class having four substitutional isomers (α-, ß-, γ-, δ-). Vitamin E analogues attain only low concentrations in most tissues, necessitating exacting invasive techniques for analytical research. Quantitative positron emission tomography (PET) with an F-18-labeled molecular probe would expedite access to Vitamin E's biodistributions and pharmacokinetics via non-invasive temporal imaging. (R)-6-(3-[18F]Fluoropropoxy)-2,7,8-trimethyl-2-(4,8,12-trimethyltrideca-3,7,11-trien-1-yl)-chromane ([18F]F-γ-T-3) was prepared for this purpose. [18F]F-γ-T-3 was synthesized from γ-T-3 in two steps: (i) 1,3-di-O-tosylpropane was introduced at C6-O to form TsO-γ-T-3, and (ii) reaction of this tosylate with [18F]fluoride in DMF/K222. Non-radioactive F-γ-T-3 was synthesized by reaction of γ-T-3 with 3-fluoropropyl methanesulfonate. [18F]F-γ-T-3 biodistribution in a murine tumor model was imaged using a small-animal PET scanner. F-γ-T-3 was prepared in 61% chemical yield. [18F]F-γ-T-3 was synthesized in acceptable radiochemical yield (RCY 12%) with high radiochemical purity (>99% RCP) in 45 min. Preliminary F-18 PET images in mice showed upper abdominal accumulation with evidence of renal clearance, only low concentrations in the thorax (lung/heart) and head, and rapid clearance from blood. [18F]F-γ-T-3 shows promise as an F-18 PET tracer for detailed in vivo studies of Vitamin E. The labeling procedure provides acceptable RCY, high RCP and pertinence to all eight Vitamin E analogues.