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In this work, we present a novel approach for improving the energy resolution from particles impinging on the interstrip regions of silicon strip detectors. We employed three double-sided strip detectors from the GRIT array and a triple α-source under laboratory conditions. The results showed that the interstrip resolution depends not only on the impinging side but also on whether it is a P- or an N-interstrip. We obtained the interstrip energy resolution down to 0.4%, and, depending on the scenario, the resolution was enhanced by a factor of 2. We believe that this new rotation method allows for the possibility of applying particle identification methods on interstrip events, which in most cases are dismissed during data recording.
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This work deals with the characteristics of highly segmented double-sided silicon detectors. These are fundamental parts in many new state-of-the-art particle detection systems, and therefore they must perform optimally. We propose a test bench that can handle 256 electronic channels with off-the-shelf equipment, as well as a detector quality control protocol to ensure that the detectors meet the requirements. Detectors with a large number of strips bring new technological challenges and issues that need to be carefully monitored and understood. One of the standard 500 µm thick detectors of the GRIT array was investigated, undergoing studies that revealed its IV curve, charge collection efficiency, and energy resolution. From the data obtained, we calculated, among other things, the depletion voltage (110 V), the resistivity of the bulk material (9 kΩ·cm), and the electronic noise contribution (8 keV). We present, for the first time, a methodology called "the energy triangle'' to visualize the effect of charge sharing between two adjacent strips and to study the hit distribution with the interstrip-to-strip hit ratio (ISR).
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Silício , Controle de QualidadeRESUMO
STUDY QUESTION: Is the indication for fertility preservation (FP) related to success in IVF cycles after elective-FP (EFP) for age-related fertility decline and FP before cancer treatment (Onco-FP)? SUMMARY ANSWER: Although success rates were lower in cancer patients, there was no statistically significant association between malignant disease and reproductive outcome after correction for age and controlled-ovarian stimulation (COS) regime. WHAT IS KNOWN ALREADY: FP is increasingly applied in assisted reproduction, but little is known about the outcome of IVF cycles with vitrified oocytes in FP patients. STUDY DESIGN, SIZE, DURATION: Retrospective, observational multicenter study of vitrification cycles for FP and of the warming cycles of women who returned to attempt pregnancy from January 2007 to May 2018. PARTICIPANTS/MATERIALS, SETTING, METHODS: In all, 6362 women (EFP = 5289 patients; 7044 cycles + Onco-FP = 1073 patients; 1172 cycles) had their oocytes vitrified for FP. A logistic regression analysis was performed to examine the impact of indication for FP corrected for age at vitrification. The protocol used for COS was also included as a possible confounder. The main outcome measures were oocyte survival and live birth. A detailed description of the baseline and clinical data is provided, with comparisons between EFP and Onco-FP. The cumulative live birth rate (CLBR) per utilized oocyte according to age at vitrification was analyzed in those patients returning to use their oocytes. MAIN RESULTS AND ROLE OF CHANCE: Age at vitrification was significantly older in EFP patients (37.2 ± 4.9 vs. 32.3 ± 3.5 year; P < 0.0001). Fewer oocytes were retrieved and vitrified per cycle in EFP (9.6 ± 8.4 vs. 11.4 ± 3.5 and 7.3 ± 11.3 vs. 8.7 ± 2.1, respectively; P < 0.05), but numbers became comparable when analyzed per patient (12.8 ± 7.4 vs. 12.5 ± 3.2 and 9.8 ± 6.4 vs. 9.5 ± 2.6). Storage time was shorter in EFP (2.1 ± 1.6 vs. 4.1 ± 0.9 years; P < 0.0001). In all, 641 (12.1%) EFP and 80 (7.4%) Onco-FP patients returned to attempt pregnancy (P < 0.05). Overall oocyte survival was comparable (83.9% vs. 81.8%; NS), but lower for onco-FP patients among younger (≤35 year) subjects (81.2% vs. 91.4%; P > 0.05). Fewer EFP cycles finished in embryo transfer (50.2% vs. 72.5%) (P < 0.05). The implantation rate was 42.6% and 32.5% in EFP versus Onco-FP (P < 0.05). Ongoing pregnancy (57.7% vs. 35.7%) and live birth rates (68.8% vs. 41.1%) were higher in EFP patients aged ≤35 than the Onco-FP matching age patients (P < 0.05). The reason for FP per se had no effect on oocyte survival (OR = 1.484 [95%CI = 0.876-2.252]; P = 0.202) or the CLBR (OR = 1.275 [95%CI = 0.711-2.284]; P = 0.414). Conversely, age (<36 vs. ≥36 y) impacted oocyte survival (adj.OR = 1.922 [95%CI = 1.274-2.900]; P = 0.025) and the CLBR (adj.OR= 3.106 [95%CI = 2.039-4.733]; P < 0.0001). The Kaplan-Meier analysis showed a significantly higher cumulative probability of live birth in patients <36 versus >36 in EFP (P < 0.0001), with improved outcomes when more oocytes were available for IVF. LIMITATIONS, REASONS FOR CAUTION: Statistical power to compare IVF outcomes is limited by the few women who came to use their oocytes in the Onco-FP group. The patients' ages and the COS protocols used were significantly different between the EFP and ONCO-PP groups. WIDER IMPLICATIONS OF THE FINDINGS: Although the implantation rate was significantly lower in the Onco-FP patients the impact of cancer disease per se was not proven'. EFP patients should be counseled according to their age and number of available oocytes. STUDY FUNDING/COMPETING INTEREST(S): No external funding was used for this study. The authors have no conflicts of interest. TRIAL REGISTRATION NUMBER: N/A.
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Preservação da Fertilidade/métodos , Fertilização in vitro , Neoplasias , Adulto , Criopreservação , Feminino , Humanos , Recuperação de Oócitos , Gravidez , Resultado da Gravidez , Taxa de Gravidez , Estudos Retrospectivos , VitrificaçãoRESUMO
Current research indicates a relationship between EI, stress, coping strategies, well-being and mental health. Emotional intelligence skills and knowledge, and coping strategies can be increased with training. OBJECTIVE: The aims of this study were to use a controlled design to test the impact of theoretically based training on the different components of EI and coping styles in a sample of nurses working with older adults. METHODS: A group of 92 professionals (RN and CAN) who attended a workshop on EI were included in the study. They completed a self-reported measure of EI and coping styles on three occasions: pre- and post-workshop and at one year follow-up. The EI workshop consisted of four 4-h sessions conducted over a four-week period. Each session was held at the one-week interval. This interval allowed participants to apply what was taught during the session to their daily life. The instruments to measure the EI and coping were the Trait Meta-Mood Scale and the CAE test. RESULTS: There were significant differences between the pre- and post-workshop measures both at the end of the workshop and up to one year for both the Trait Meta-Mood Scale scores and the CAE test. There was a significant increase in the EI and coping styles after the workshop and one year thereafter. CONCLUSION: The workshop was useful for developing EI in the professionals. The immediate impact of the emotional consciousness of individuals was particularly significant for all participants. The long-term impact was notable for the significant increase in EI and most coping styles.
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Adaptação Psicológica , Atitude do Pessoal de Saúde , Inteligência Emocional , Enfermagem Geriátrica/métodos , Recursos Humanos de Enfermagem/psicologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e QuestionáriosRESUMO
STUDY QUESTION: Do the extreme conditions of vitrification affect mitochondrial health and reactive oxygen species (ROS) levels of human oocytes? SUMMARY ANSWER: Vitrification of discarded human oocytes shifts the intracellular redox potential towards oxidation but does not alter the mitochondrial potential or intracellular ROS levels. WHAT IS KNOWN ALREADY: Recent studies have reflected increased ROS levels in warmed young oocytes and have highlighted the temporal dynamic loss of mitochondrial potential that could, therefore, lead to a decrease in ATP production, impairing embryo development. Mitochondrial function can also be evaluated in vivo by the FAD/NAD(P)H autofluorescence ratio, which reflects the respiratory chain activity and is considered as a marker of the intracellular redox state. STUDY DESIGN, SIZE, DURATION: A total of 629 discarded Metaphase II (MII) oocytes collected from June 2013 to April 2014 were included in this control (fresh oocytes, n= 270) versus treatment (vitrified oocytes, n= 359) study. PARTICIPANTS/MATERIALS, SETTING, METHODS: Discarded MII oocytes were donated to research by young (<27 years old) and reproductively aged (>36 years old) women who underwent ovarian stimulation for IVF at a university-affiliated private fertility clinic. Redox state was assessed by measuring the FAD/NAD(P)H autofluorescence ratio, while ROS and mitochondrial activity were reported by in vivo labelling with carboxy-H2DCFDA and JC-1, respectively. MAIN RESULTS AND THE ROLE OF CHANCE: Young and aged oocytes showed high and similar survival rates (81.8 versus 83.1%, not significant). Confocal microscopy revealed that the FAD/NAD(P)H ratio was significantly higher in vitrified oocytes than in fresh oocytes, suggesting a significant shift towards the oxidized state in oocytes after vitrification, regardless of the maternal age. Mitochondrial distribution was not affected by vitrification. Furthermore, it was not possible to resolve any difference in mitochondrial potential using JC-1 potentiometric dye or in reactive oxygen species (ROS) production (assessed with H2-DCFDA staining) between fresh and vitrified oocytes. Therefore, measurement of intracellular redox potential by autofluorescence imaging may be a more sensitive method to assess oxidative stress or mitochondrial demise in human oocytes because it showed a higher resolving power than JC-1 staining and displayed less variability than H2-DCFDA staining. LIMITATIONS, REASONS FOR CAUTION: Owing to sample availability, MII discarded oocytes (in vitro matured oocytes and unfertilized oocytes 20 h after ICSI) were included in the study. These discarded oocytes do not necessarily reflect the physiological condition of the MII human oocyte. WIDER IMPLICATIONS OF THE FINDINGS: Although vitrified oocytes yield comparable clinical outcomes compared with fresh oocytes, lower cleavage and blastocyst rates can be observed during in vitro culture. Data here obtained suggest that the redox state of human oocytes could be affected by vitrification. Therefore, the importance of adding protective antioxidant molecules to the vitrification solution and to the post-warming culture medium to improve embryo cleavage deserves some research. STUDY FUNDING/COMPETING INTERESTS: This research project was supported by the Valencian Government (Val+i+D program, M.N.-C.), INCLIVA Foundation for health research (G.S.-A.) and by the University of L'Aquila and Regione Abruzzo ('Reti per l'Alta Formazione' - P.O.F.S.E. Abruzzo 2007-2013 G.D.E.). No conflicts of interest were declared.
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Mitocôndrias/metabolismo , Oócitos/metabolismo , Espécies Reativas de Oxigênio/metabolismo , Vitrificação , Adulto , Criopreservação/métodos , Feminino , Humanos , Indução da Ovulação , OxirreduçãoRESUMO
OBJECTIVE: This study identified barriers to the utilization of research results perceived by nurses who work in nursing homes in Spain. METHODS: An observational, cross-sectional, descriptive, and multicentre study was conducted in 126 nursing homes in different Spanish cities. The BARRIERS to Research Utilization Scale (BARRIERS scale) was used to identify barriers. RESULTS: A total of 756 nurses responded (92.48%). BARRIERS scale variables with the highest scores included Characteristics of the organization (mean=24.89, SD=4.37), followed by Professional features (mean=21.87, SD=4.85). The specific barriers that were rated the highest included "not enough time on the job to implement new ideas" (mean=3.89, SD=0.98), followed by "unknown nursing research" (mean=2.75; SD=1.22) and "Doctors do not cooperate in the implementation" (mean=3.01, SD=1.85). CONCLUSIONS: Geriatric nurses perceive time as the main barrier to implementing the results of research in practice. The number and nature of the barriers are consistent with studies from other countries. Knowledge of the barriers is crucial for institutions and educators to instigate measures that improve the implementation of nursing research, especially in an area like elderly care. To our knowledge, this is the first study conducted among geriatric nurses in Spain.
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Enfermagem Geriátrica , Enfermeiras e Enfermeiros/psicologia , Casas de Saúde , Adulto , Atitude do Pessoal de Saúde , Estudos Transversais , Feminino , Humanos , Masculino , Pesquisa em Enfermagem , Estudos Observacionais como Assunto , Espanha , Recursos HumanosRESUMO
BACKGROUND: Aplasia cutis congenita (ACC) has been associated with all clinical forms of inherited epidermolysis bullosa (EB), including dominant and recessive dystrophic EB (DDEB and RDEB). To date, only a few patients with DEB specifically combined with ACC have been described and genotyped and almost all cases represent dominant forms of the condition. OBJECTIVES: The aim of this study was to describe new mutations of COL7A1 in patients with DEB and ACC and investigate possible genotype-phenotype correlations. METHODS: Twenty-two patients with DEB and ACC were included among the 123 patients with DEB whose COL7A1 mutations have been identified in the Reference Centre in Nice. RESULTS: Seven patients presented a severe generalized RDEB phenotype (RDEB-sev-gen), while the other 15 suffered from milder phenotypes. We identified 28 mutations in COL7A1, of which nine are novel. Patients with severe phenotypes have mostly mutations leading to premature termination codon (PTC) and/or splice-site or missense mutations. Patients with the milder phenotypes have mostly glycine or arginine substitutions associated or not with other types of mutations. All amino acid substitutions fell within the carboxyl portion of the triple helix domain (THD) of collagen VII, close to the THD interruptions. CONCLUSIONS: Our findings suggest that ACC is a frequent manifestation in patients with DEB irrespective of the severity of the disease, and is due to leg rubbing in utero. In children with a moderate form of DEB with no or moderate skin fragility, a glycine substitution near the THD interruption domain of the collagen VII leading to thermolabile protein could explain this phenomenon.
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Substituição de Aminoácidos/genética , Colágeno Tipo VII/genética , Displasia Ectodérmica/genética , Epidermólise Bolhosa Distrófica/genética , Mutação/genética , Criança , Feminino , Genótipo , Humanos , Masculino , FenótipoRESUMO
A processing scheme able to obtain any arbitrary intragrating strain distribution of a fiber Bragg grating (FBG) is proposed and demonstrated. The processing method employs just the intensity of the FBG reflection spectrum to obtain its deformation profile by combining a geometrical processing scheme with the particle swarm optimization technique. The technique has been evaluated using several spectra generated from very heterogeneous strain distributions and with a real spectrum obtained from a 5 mm length FBG under an asymmetric perturbation. The achieved results exhibit a good spatial resolution (Δ≈0.5 mm) and repeatability.
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In this paper, a technique to estimate the deformation profile of a Sampled Fiber Bragg Grating (SFBG) is proposed and experimentally verified. From the SFBG intensity reflection spectrum, any arbitrary longitudinal axis deformation profile applied to a SFBG is estimated. The synthesis algorithm combines a custom defined error metric to compare the measured and the synthetic spectra and the Particle Swarm Optimization technique to get the deformation profile. Using controlled deformation profiles, the proposed method has been successfully checked by means of simulated and experimental tests. The results obtained under different controlled cases show a remarkable repetitiveness (< 50 µÎµ) and good spatial accuracy (< 1 mm).
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Tecnologia de Fibra Óptica/instrumentação , Tecnologia de Fibra Óptica/métodos , Modelos Teóricos , Refratometria/instrumentação , Refratometria/métodos , Simulação por Computador , Módulo de Elasticidade , Desenho de Equipamento , Análise de Falha de EquipamentoRESUMO
Accumulation of oocytes from several ovarian stimulation cycles is currently possible using novel vitrification technologies. This strategy could increase the inseminated cohort, creating a similar situation to normoresponders. This study included 242 low-responder (LR) patients (594 cycles) whose mature oocytes were accumulated by vitrification and inseminated simultaneously (LR-Accu-Vit) and 482 patients (588 cycles) undergoing IVF/embryo transfer with fresh oocytes in each stimulation cycle (LR-fresh). Drop-out rate in the LR-fresh group was >75%. The embryo-transfer cancellation per patient was significantly lower in the LR-Accu-Vit group (9.1%) than the LR-fresh group (34.0%). Live-birth rate (LBR)/patient was higher in the LR-Accu-Vit group (30.2%) than the LR-fresh group (22.4%). Cumulative LBR/patient was statistically higher in the LR-Accu-Vit group (36.4%) than the LR-fresh group (23.7%) and a similar outcome was observed among patients aged ⩾40years (LR-Accu-Vit 15.8% versus LR-fresh 7.1%). The LR-Accu-Vit group had more cycles with embryo cryopreservation (LR-Accu-Vit 28.9% versus LR-fresh 8.7%). Accumulation of oocytes by vitrification and simultaneous insemination represents a successful alternative for LR patients, yielding comparable success rates to those in normoresponders and avoiding adverse effects of a low response. The accumulation of oocytes from several ovarian stimulation cycles is currently possible with the aid of novel vitrification technologies. This strategy could be useful for low-responder patients, contributing to increase the inseminated cohort and creating a similar situation as in normal responders. According to the results presented herein (higher live-birth rate per patient treated), this strategy represents a successful alternative for low-responder patients, yielding comparable success rates to those in normal responders and avoiding the adverse effects of a low response.
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Preservação da Fertilidade/métodos , Infertilidade Feminina/terapia , Oócitos , Preservação de Tecido/métodos , Vitrificação , Adulto , Eficiência , Destinação do Embrião , Feminino , Humanos , Recém-Nascido , Infertilidade Feminina/diagnóstico , Recuperação de Oócitos/métodos , Gravidez , Taxa de Gravidez , Prognóstico , Falha de TratamentoRESUMO
AIM: To determine the utility of [18F]FDG PET/CT quantitative parameters as prognostic factors for the response to neoadjuvant treatment, progression-free survival (PFS) and cancer-specific survival (CSS) in patients with esophageal squamous cell carcinoma (SCC). MATERIAL AND METHODS: Thirty patients (29 men) diagnosed with SCC were retrospectively evaluated over a 6-year interval. Metabolic parameters were determined: maximum SUV (SUVmax), mean SUV (SUVmed), metabolic tumor volume (MTV) and total lesion glycolysis (TLG) from baseline PET/CT study. After treatment with chemotherapy and/or radiotherapy, response to treatment and patient survival were assessed. The comparison of parameters between groups of responders and non-responders was carried out using a Mann-Whitney U test ROC curves and the Kaplan-Meier method were used for analysis of prognostic factors and survival curves. RESULTS: The average follow-up was 22.4 months, with 22 recurrence-progressions and 25 deaths. Significant differences were demonstrated between responders and non-responders with respect to tumor size, MTV and TLG. Survival analysis found significant differences for SCE and CSS depending on these three parameters. CONCLUSION: Metabolic parameters MTV and TLG, and tumor size were prognostic factors for neoadjuvant treatment response, PFS, and CSS in patients diagnosed with SCC. Neither SUVmax nor SUVmed were predictive for any of the evaluation criteria. Results could help to personalize patient treatment.
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Carcinoma de Células Escamosas , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/terapia , Células Epiteliais , Neoplasias Esofágicas/diagnóstico por imagem , Neoplasias Esofágicas/terapia , Carcinoma de Células Escamosas do Esôfago/diagnóstico por imagem , Fluordesoxiglucose F18 , Humanos , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Prognóstico , Compostos Radiofarmacêuticos , Estudos RetrospectivosRESUMO
Infection caused by Monkeypox Virus (MPVX) has small rodents as its natural reservoir and both monkeys and humans are occasional hosts. The causative agent is an Orthopoxvirus (MPVX) that was isolated in monkeys in 1958 and proved capable of passing to humans in 1970. It remained contained in Africa, causing isolated episodes of infection, until 2003 when an outbreak occurred in the United States following importation of animals from that continent. Since then, anecdotal cases have continued to be reported outside Africa, usually very clearly linked to travelers to those countries, but in May 2022, a broad outbreak of this disease has begun, now affecting several continents, with the emergence of human cases of MPVX (H-MPVX) infection mainly among Men that have Sex with Men (MSM). The disease has an incubation time ranging from 5 to 15 days and is characterized by the presence of pustules, fever, malaise and headache. The presence of significant regional lymphadenopathy is a differential feature with episodes of classical smallpox. Proctitis and pharyngitis, with minimal skin lesions, may be another form of presentation. Diagnosis can be confirmed by PCR testing of lesions or by demonstration of MPVX in other body fluids or tissues, although in the appropriate epidemiologic setting the clinical picture is highly suggestive of the disease. Effective drug treatment has been developed as part of programs to protect against potential bioterrorist agents and smallpox vaccinees are known to have high protection against monkeypox. New vaccines are available, but neither the drugs nor the vaccines are yet freely available on the market. The prognosis of the disease appears, at least in adults in developed countries, to be good, with very low mortality figures and much less aggressive behavior than that described in classical smallpox. Isolation measures, essential for the control of the outbreak, have been published by the health authorities.
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Mpox , Minorias Sexuais e de Gênero , Varíola , Masculino , Adulto , Animais , Humanos , Estados Unidos , Mpox/epidemiologia , Mpox/diagnóstico , Varíola/epidemiologia , Homossexualidade Masculina , Monkeypox virus , Surtos de DoençasRESUMO
AIM: To determine the utility of 18F-FDG PET/CT quantitative parameters as prognostic factors for the response to neoadjuvant treatment, progression-free survival (PFS) and cancer-specific survival (CSS) in patients with esophageal squamous cell carcinoma (SCC). MATERIAL AND METHODS: Thirty patients (29 men) diagnosed with SCC were retrospectively evaluated over a 6-year interval. Metabolic parameters were determined: maximum SUV (SUVmax), mean SUV (SUVmed), metabolic tumor volume (MTV) and total lesion glycolysis (TLG) from baseline PET/CT study. After treatment with chemotherapy and/or radiotherapy, response to treatment and patient survival were assessed. The comparison of parameters between groups of responders and non-responders was carried out using a Mann-Whitney U test. ROC curves and the Kaplan-Meier method were used for analysis of prognostic factors and survival curves. RESULTS: The average follow-up was 22.4months, with 22 recurrence-progressions and 25 deads. Significant differences were demonstrated between responders and non-responders with respect to tumor size, MTV and TLG. Survival analysis found significant differences for SCE and CSS depending on these three parameters. CONCLUSION: Metabolic parameters MTV and TLG, and tumor size were prognostic factors for neoadjuvant treatment response, PFS, and CSS in patients diagnosed with SCC. Neither SUVmax nor SUVmed were predictive for any of the evaluation criteria. Results could help to personalize patient treatment.
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BACKGROUND: Although central nervous system (CNS) involvement in adult myotonic dystrophy type 1 (DM1) was described long ago, the large number of variables affecting the cognitive and personality profile have made it difficult to determine the effect of DM1 on the brain. The aim of this study was to define the cognitive and personality patterns in adult DM1 patients, and to analyse the relationship between these clinical patterns and their association with the underlying molecular defect. METHOD: We examined 121 adult DM1 patients with confirmed molecular CTG repeat expansion and 54 control subjects using comprehensive neuropsychological tests and personality assessments with the Millon Clinical Multiaxial Inventory (MCMI)-II. We used a multiple linear regression model to assess the effect of each variable on cognition and personality adjusted to the remainders. RESULTS: Patients performed significantly worse than controls in tests measuring executive function (principally cognitive inflexibility) and visuoconstructive ability. In the personality profile, some paranoid and aggressive traits were predominant. Furthermore, there was a significant negative correlation between the CTG expansion size and many of the neuropsychological and personality measures. The molecular defect also correlated with patients' daytime somnolence. CONCLUSIONS: Besides muscular symptomatology, there is significant CTG-dependent involvement of the CNS in adult DM1 patients. Our data indicate that the cognitive impairment predominantly affects the fronto-parietal lobe.
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Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/psicologia , Distrofia Miotônica/epidemiologia , Distrofia Miotônica/psicologia , Personalidade , Expansão das Repetições de Trinucleotídeos/genética , Adolescente , Adulto , Idoso , Análise de Variância , Southern Blotting/métodos , Transtornos Cognitivos/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Distrofia Miotônica/genética , Miotonina Proteína Quinase , Testes Neuropsicológicos/estatística & dados numéricos , Inventário de Personalidade/estatística & dados numéricos , Reação em Cadeia da Polimerase/métodos , Proteínas Serina-Treonina Quinases/genética , Escalas de Graduação Psiquiátrica/estatística & dados numéricos , Sequências Repetitivas de Ácido Nucleico , Espanha/epidemiologia , Adulto JovemRESUMO
BACKGROUND: Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by developmental abnormalities leading to somatic and psychological symptoms. These include dysmorphic features, impaired growth and sexual maturation, hyperphagia, intellectual delay, learning disabilities and maladaptive behaviours. PWS is caused by a lack of expression of maternally imprinted genes situated in the 15q11-13 chromosome region. The origin is a 'de novo' deletion in the paternal chromosome in 70% of the cases and a maternal uniparental disomy in 25%. The two main genotypes show differences, notably regarding cognitive and behavioural features, but the mechanisms are not clear. This study assessed cognitive impairment in a cohort of adults with genetically confirmed PWS, analysed their profiles of cognitive strengths and weaknesses, and compared the profiles in terms of genotype. METHODS: Ninety-nine male and female adults participated, all inpatients on a specialised unit for the multidisciplinary care of PWS. The Wechsler Adult Intelligence Scale (WAIS-III) was administered to all patients in identical conditions by the same psychologist. Eighty-five patients were able to cope with the test situation. Their scores were analysed with non-parametric statistical tools. The correlations with sex, age and body mass index were explored. Two genotype groups were compared: deletion (n = 57) and non-deletion (n = 27). RESULTS: The distribution of intelligence quotients in the total cohort was non-normal, with the following values (medians): Full Scale Intelligence Quotient (FSIQ): 52.0 (Q1:46.0; Q3:60.0), Verbal Intellectual Quotient (VIQ): 53.0 (Q1:48; Q3:62) and Performance Intellectual Quotient (PIQ): 52.5 (Q1:48; Q3:61). No correlation was found with sex, age or body mass index. Comparison between groups showed no significant difference in FSIQ or VIQ. PIQ scores were significantly better in the deletion group. The total cohort and the deletion group showed the VIQ = PIQ profile, whereas VIQ > PIQ was observed in the non-deletion group. The subtest scores in the two groups showed significant differences, with the deletion group scoring better in three subtests: object assembly, picture arrangement and digit symbol coding. Some relative strengths and weaknesses concerned the total cohort, but others concerned only one genotype. DISCUSSION: We documented a global impairment in the intellectual abilities of a large sample of French PWS patients. The scores were slightly lower than those reported in most other studies. Our data confirmed the previously published differences in the cognitive profiles of the two main PWS genotypes and offer new evidence to support this hypothesis. These results could guide future neuropsychological studies to determine the cognitive processing in PWS. This knowledge is essential to improve our understanding of gene-brain-behaviour relationships and to open new perspectives on therapeutic and educational programmes.
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Transtornos Cognitivos/genética , Transtornos Cognitivos/psicologia , Cognição , Genótipo , Síndrome de Prader-Willi/genética , Síndrome de Prader-Willi/psicologia , Adolescente , Adulto , Transtornos Cognitivos/complicações , Estudos de Coortes , Feminino , França , Humanos , Masculino , Pessoa de Meia-Idade , Síndrome de Prader-Willi/complicações , Adulto JovemRESUMO
AIM: To assess the utility of 18F-FDG PET/CT quantitative parameters as prognostic factor in patients diagnosed with localized and inoperable lung cancer treated by stereotactic body radiotherapy (SBRT). MATERIAL AND METHODS: Fifty patients (42 men) diagnosed in the last 7years with early-stage lung cancer and treated with SBRT alone were assessed by a prospective study. After PET/CT study, metabolic parameters maximum SUV (SUVmax), metabolic tumor volume (MTV) and total lesion glycolysis (TLG) were determined at different thresholds. The prognostic factors for overall survival (OS), cause-specific survival (CS) and disease-free survival (DFS) were analysed by Cox proportional hazards model and the survival analysis by Kaplan-Meier method. RESULTS: The average follow-up was 39.6months, with 21 recurrences and 24 dead. Univariate analysis determined MTV30 and MTV40 as predictors for OS; MTV30, MTV40, TLG30 and TLG40 for CS, and MTV2, MTV30, MTV40, TLG2, TLG30 and TLG40 for DFS. Survival analysis found statistically significant differences for CS and DFS depending on tumor size and for DFS considering the cut-off values of MTV2 and TLG2 (threshold SUVmax=2). SUVmax, age and sex were not shown to be significant factors. CONCLUSION: Pre-treatment quantitative assessment using metabolic parameters MTV2 and TLG2 as well as tumor size proved to be prognostic factors in patients diagnosed with localized and inoperable lung cancer treated by SBRT. Results could help to personalize treatment.
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Carcinoma Pulmonar de Células não Pequenas/diagnóstico por imagem , Radioisótopos de Flúor , Fluordesoxiglucose F18 , Neoplasias Pulmonares/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Compostos Radiofarmacêuticos , Idoso , Idoso de 80 Anos ou mais , Área Sob a Curva , Carcinoma Pulmonar de Células não Pequenas/etiologia , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Terapia Combinada , Tomografia Computadorizada de Feixe Cônico , Feminino , Seguimentos , Humanos , Estimativa de Kaplan-Meier , Neoplasias Pulmonares/etiologia , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Prognóstico , Modelos de Riscos Proporcionais , Estudos Prospectivos , Curva ROC , Radiocirurgia , Radioterapia de Intensidade ModuladaRESUMO
BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.
Assuntos
Aconselhamento Genético , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Guias de Prática Clínica como Assunto/normas , Transtornos de Deglutição , Seguimentos , Humanos , Distrofia Miotônica/complicaçõesRESUMO
The purpose of this work is to update embryologists and clinicians on different approaches in human oocyte and embryo cryopreservation, by clarifying some misunderstandings and explaining the underlying reasons for controversial opinions. The work is based on literature review and critical analysis of published papers or conference abstracts during the last 24 years, with special focus on the last 3 years. Due to the latest advancements in techniques, cryopreservation now offers new perspectives along with solutions to many demanding problems, and has developed from a backup procedure to a successful alternative that is an indispensable constituent of assisted reproductive techniques. However, this progress is not free from controversies, at some points is rather serendipitous, and many factors, including human ones, hamper the selection and widespread application of the most efficient technique for the given task. A better understanding of the basic features of the two rival approaches (slow-rate freezing and vitrification), a clarification of terms and technical details, and a balanced, pragmatic evaluation of possible risks and potential, or definite, gains are required to accelerate advancement. Alternatively, the increasing flow of patients to the few assisted reproduction clinics and countries that are highly successful in this field will enforce the required changes in methodology and mentality worldwide.
Assuntos
Criopreservação/métodos , Técnicas de Reprodução Assistida , Crioprotetores , Congelamento , HumanosRESUMO
Survival rates have been improved in young cancer patients due to advances in oncologic treatments. It is necessary to focus on the consequences of cancer treatments and try to elude or at least prevent them. Menopause and infertility are two of the main causes for concern to those patients who survive cancer. When a solution is offered to these patients, their quality of life and self-esteem can be dramatically increased after therapy. Results observed in vitrified oocytes are similar to those achieved with fresh oocytes, giving this method great potential. Recommendations on fertility preservation should be focused on the oocyte vitrification method, which should be considered as the first option. Limitations of this approach are the need for ovarian stimulation, which means a 2-3 week period prior to chemotherapy and the possibility of high oestradiol levels when tumours are hormone dependent.