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This chapter looks at a spectrum of paediatric clinical cases ranging from generalised conditions such as Ehlers– Danlos syndrome to tibial bowing and foot disorders. Skeletal dysplasia and rotational and other malalignments are also covered. The emphasis of the cases shown is to demonstrate how clinical features can contribute to management.
Previous research has shown that the direction of the cognate facilitation effect (CFE) can disappear if identical cognate words are removed from the stimulus list while keeping task requirements constant (Comesaña, Ferré, Romero, Guasch, Soares & García-Chico, 2015). These results do not fit well with leading computational models of bilingual word recognition (BIA+, Multilink), according to which there are no top-down influences at early stages of word processing. Influences would be post-lexical in nature and would result from competition at the response level. This study aimed to examine this issue by manipulating stimulus list composition and examining its impact on cognate word recognition. We varied the proportion of identical cognates in the experimental lists with four ratios of identical vs. non-identical cognates (50-50; 25-75; 12-88, and 0-100, respectively). Results showed that the CFE gradually decreases as the proportion of identical cognates also decreases. These findings cannot be explained by mechanisms of response competition, but instead seem to imply a dynamic and language-specific top-down regulation of lexical activation.
The objective of this study was to evaluate the effect of different intercropping and spacing arrangements of corn (Zea mays L) and crotalaria (Crotalaria spp) on the agronomic characteristics, chemical composition and forage digestibility. The experiment was distributed in a randomized complete block design with a 2 × 2 + 1 factorial scheme. The treatments were two cultivation systems (corn + Crotalaria juncea (CCJ) intercropping, and corn + Crotalaria ochroleuca (CCO) intercropping), in two spacing arrangements (A1 (corn and crotalaria sown in the same row) and A2 (corn and crotalaria sown in alternate rows)) plus control (single corn monocropping (CSC)), with six replicates per treatment, for 2 years. Forage plants were harvested when the corn grain reached the doughy-farinaceous phenological stage. Forage mass (total and of each species), morphological composition, chemical composition and in vitro digestibility were evaluated. The forage accumulation was higher for the A1 spatial arrangement. In the second year, the highest total forage mass was verified in the CCO intercropping (11 140 kg/ha). The highest corn mass (9402 kg/ha) was observed for CSC. The highest crotalaria mass was observed in the CCJ intercropping in both years. Regarding the chemical composition, CCJ and CCO intercropping had the highest crude protein concentration. The lowest acid detergent fibre concentration was observed in CSC and CCO intercropping, directly reflecting the in vitro dry matter digestibility coefficients. It is concluded that C. ochroleuca, sown between corn rows, had higher forage accumulation and nutritive value among the treatments tested in this experiment.
Protein quality has an important role in increasing satiety. Evidence suggests that whey protein (WP) provides satiety via gastrointestinal hormone secretion. Hydrolysed collagen supplementation can also stimulate the production of incretins and influence satiety and food intake. Thus, we sought to compare the effect of acute supplementation of WP or hydrolysed collagen on post-intervention appetite and energy consumption. This was a randomised, double-blind, crossover pilot study with ten healthy adult women (22·4 years/old) who were submitted to acute intake (single dose) of a beverage containing WP (40 g of concentrated WP) or hydrolysed collagen (40 g). Subjective appetite ratings (feelings of hunger, desire to eat and full stomach) were measured using the Visual Analog Scale (VAS), energy intake was quantified by ad libitum cheese bread consumption 2 hours after supplementation and blood was collected for leptin and glucose determination. There was no difference between treatment groups in the perception of hunger (P = 0·983), desire to eat (P = 0·326), full stomach feeling (P = 0·567) or food consumption (P = 0·168). Leptin concentrations at 60 min post supplementation were higher when subjects received hydrolysed collagen (P = 0·006). Acute supplementation with hydrolysed collagen increased leptin levels in comparison with WP, but had no effect on appetite measured by feelings of hunger, desire to eat, full stomach feeling (VAS) or energy consumption.
Frontotemporal Demential (FTD) is a neurodegenerative disorder evolving the frontal or temporal brain lobes. They have been described six variants. Behaviour variant (BvFTD) is the most common, and is characterized by changes in social behaviour and conduct, with loss of social awareness and poor impulse control. Hebephrenic schizophrenia (HSz), or disorganized schizophrenia, was recognized as a schizophrenia subtype, characterized by desorganized behaviour and a cognitive deteriorization. Subtypes of schizophrenia are no longer recognized as separate conditions neither in the Diagnostic and Statistical Manual of Mental Disorders, nor in the new International Statistical Classification of Diseases.
To review the literature about the concepts of hebephrenic schizophrenia and their similarities with the concept of frontotemporal dementia
Narrative review of the literature on PubMed/MEDLINE, using the keywords “hebephrenic szchizophrenia” AND “frontotemporal dementia”. Only articles in English were included.
Some authors described dificulty in establish a diferential diagnosis between HSz and BvFTD. HSz has an earlier onset. However, BvFTD is an early age dementia. The fenomenology of both diseases is similar, and schizophrenia was historical conceptualized as praecox dementia. Frontotemporal abnormalities are common neuroimagiological findings in schizophrenia. Clinically, FTD shows a profound alteration in personality and social conduct, emotional blunting and loss of insight. Memory, intellectual functions, executive and attentional abilities may be disturbed in both.
A diferential diagnosis between HSz and BvFTD is dificult to establish (clinically and imagiologically). The response to treatment is weak in both. It should be investigated the possibility they could be the same syndrome, onseting in diferent ages.
Obsessional slowness (OS) is a rare condition of disabling slow motor performance, first described in 1974, by Rachman, who documented 10 cases of “primary obsessional slowness”. Rachman argued that, although his patients with OS had Obsessive Compulsive Disorder (OCD), their motor symptoms were not related to the presence of motor-slowness-triggering obsessions/compulsions (e.g. checking and mental rituals). Whether OS truly is a distinct and “primary” entity is still a controversial issue, however.
To present and discuss the phenomenology of OS.
Case reports of OS published in the literature, including Rachman’s descriptions.
The literature on OS is extremely limited, with no published, large-scale descriptive studies or randomized controlled trials. Some authors doubt that OS is a “primary” condition, pointing out the clear overlap between OS and catatonia and emphasizing that the latter disorder also occurs in non-schizophrenic patients, for example, ones with OCD. Additionally, OCD and depression often co-occur. Thus, in severe cases, it may be challenging to disentangle the separate contribution of both disorders to psychomotor slowness. It is also crucial to exclude the possibility that a patience has juvenile parkinsonism or other causes of motor slowness before diagnosing him/her with OS, given that the diagnostic approaches and treatment strategies for OS and the aforementioned disorders differ.
OS seems to be a rare but often disabling motor manifestation of OCD, rather than a primary disease entity. However, some cases sit on the edge of current diagnostic criteria. Future research should help define OS more precisely.
Sleep represents an important process in the stable behavioural and emotional functioning of the individual and is an important health indicator. Personality is related with academic and occupational achievement, quality of interpersonal relationships, but also with sleep. Concerning personality, individuals with lower emotional stability have greater sensitivity to stress and maladaptive sleep-related behaviour.
The main goal of this study is to analyze the relation between sleep quality and personality in college students.
This study employed a correlational design. A sample of 220 Portuguese students (84.9% females), with mean age of 19.5 years (sd=3.4), from different health courses, filled in the Pittsburgh Sleep Quality Questionnaire and HEXACO-60, during a single individual session. A descriptive statistical analysis, a Pearson correlation analyses and the t Student test, for independent samples, were performed.
The results showed a predominance of poor sleep quality among students (96.3%). The more prevalent HEXACO dimensions are: Conscientiousness (X=32.6; sd=4.2) and Emotionality (X=31.2; sd=5.2). When exploring personality differences between sleep groups (GSG=Good Sleep Group; PSG=Poor Sleep Group) a significant difference was found in mean scores of the dimension Emotionality. It was observed that the PSG revealed higher levels of Emotionality than the GSG (PSG=31.5; sd=5.1; PSG=26.3; sd=4.0; p<.05).
College students self-report a poor sleep and the prevalent personality dimensions are Conscientiousness and Emotionality. Students with higher levels of Emotionality (fearfulness, anxiety, dependence and sentimentality) presented a poor sleep. To conclude, mediation studies are needed in order to better understanding the link between personality and sleep.
Conceptualising Schneider’s first-rank symptoms (FRS) as a diagnostic test whose performance can be measured in terms of sensitivity and specificity involves some issues that require reflection. The first formal proposal was contained in a 1939 monograph Schneider wrote, but little is known of their prehistory. In recent years there has been renewed interest in their clinical value.
This work aims to review the the diagnostic the evolution and diagnostic accuracy of FRS.
A non-systematic review was performed, searching Pubmed/MEDLINE for articles using the keywords “schizophrenia” and “first rank symptoms”.
From the beginning of Western descriptive psychopathology in the early 19th century, symptoms have been observed later described as first-rank by Schneider. When FRS are conceived as simple clinical indicators at a low level of inference, the results of the meta-analytic estimate of their diagnostic accuracy can be considered as a valid appraisal of their performance and usefulness. However, when FRS are conceptualised from a psychopathological perspective as strange and incomprehensible experiences that cannot be reduced merely to their propositional content and require substantial expertise and skill to be properly evaluated, the meta-analytic estimates can hardly be seen as a valid evaluation of their diagnostic significance, considering that some FRS are extremely difficult to assess properly.
The descriptions of these symptoms present substantial temporal and geographical continuity, over two centuries and in many countries. There is contradictory information concerning the validity of FRS as a clinical indicator. Phenomenologically informed studies are needed to address this research gap.
Schizophrenia is a chronic and debilitating psychiatric disorder. Affecting social, emotional, perceptive, and cognitive domains, its clinical phenotype can be subdivided into positive and negative symptoms, and those of cognitive impairment. As the knowledge base behind the social and environmental origins accumulates, the etiological and neuropathophysiological mechanisms behind them remain elusive.
To review the latest developments in potential etiological hypotheses linked to schizophrenia.
A non-systematic review was performed, searching Pubmed for articles published between the years of 2019 and 2020.
(1) Common genetic variants alter brain glycosylation and may play a fundamental role in the development of schizophrenia. The strongest coding variant in schizophrenia is a missense mutation in the manganese transporter SLC39A8, which is associated with altered glycosylation patterns in humans, resulting in modification of a subset of schizophrenia-associated proteins. (2) Failure of oligodendrocytes and astrocytes to differentiate contributes to several of the key characteristics of schizophrenia, including hypomyelination and abnormalities in glutamate and potassium homoeostasis. (3) Diglossia was hypothesized as a risk factor, as it could constitute a neurodevelopmental insult. This relationship may be mediated by the reduced lateralization of language in the brain. (4) The first brain-wide resting state effective-connectivity neuroimaging analysis proposed going beyond the disconnectivity hypothesis, drawing attention to differences between back projections and forward connections, with the backward connections from the precuneus and posterior cingulate cortex implicated in memory stronger in schizophrenia.
These novel insights may be a promising step in the right direction, presenting not only new approaches towards the complex pathogenesis of schizophrenia, but also eventual early interventions.
Coronavirus disease (COVID-19) has been associated with the development mental and behavioural symptoms and psychiatric disorders. This association is stronger in severe cases of the disease and in those needing inpatient treatment, particularly in intensive care units (ICU).
To determine the incidence of psychiatric disorders in a Portuguese hospital-based sample of patients with COVID-19. To describe relevant demographic and clinical data.
We reviewed all COVID-19 inpatients assessed by liaison psychiatry at our hospital between April and September 2020. Patients admitted due to a psychiatric disorder were excluded from the analysis. We reviewed medical records and retrieved relevant clinical data. ICD-10 was used to classify diagnoses.
We identified 36 cases with a mean age of 62.64 years-old (SD 19.23). The most common disorder was delirium, which occurred in 41.7% of our sample (15 patients), followed by adjustment disorder (22.2%, n=8), and depressive episode (16.7%, n=8). Most patients had no personal (61.1%, n=22) nor family (75%, n=27) history of a psychiatric disorder. Mean length of admission was 36.89 days (SD 28.91). Seventeen cases (47.22%) had at least one risk factor for severe COVID-19 disease and 14 (38.89%) were admitted at some point to the ICU.
In our sample, delirium was the main cause for mental or behavioural symptoms in COVID-19 patients. However, we observed a wide array of presentations in our center. A larger sample would allow to better characterize this often-overlooked symptoms and identify risk factors to psychiatric syndromes.
Bipolar disorder (BD) is a severe and chronic illness characterized by episodic changes in mood. The average onset of BD symptoms is estimated between 18 and 22 years. However, many adults retrospectively report symptoms onset in childhood or adolescence. Over the last decades, pediatric bipolar disease (PBD) has been the focus of increased attention mainly due to controversies surrounding its prevalence, diagnosis and treatment in the pediatric population.
To analyze pediatric hospitalizations related to BD held in mainland Portuguese public hospitals between 2000 and 2015.
This retrospective observational study analyzed all pediatric (<18 years old) inpatient episodes from 2000 to 2015 with a primary BD diagnosis, using an anonymized administrative database including all hospitalization from mainland Portuguese public hospitals. ICD-9-CM codes 296.x were used (excluding codes 296.2x; .3x and .9x). Age at admission, admission type and date, sex, charges and length of stay (LoS) were analyzed.
A total of 348 hospitalizations were analyzed from 258 patients. Patients were mainly young girls (60.6%), with a mean age of 15.24±1.87 years. The majority of the admissions were urgent (81.0%), and the median LoS was 14 days (IQR: 7; 24). Mean hospitalization charges were 3503.1€ with a total sum of 1.2M€ for all the episodes.
PBD hospitalizations occur predominantly in female patients during adolescence. The majority of them are urgent admissions. Descriptive studies will help to describe and characterize sociodemographic and clinical trends in PBD in order to better prevent acute hospitalizations with inevitable social and economic implications.
In breeding programmes, the genetic selection process is based on the prediction of animal breeding values, and its results may vary according to the employed selection method. The current study developed an economic selection index for animals of the Angus breed; performed cluster analyses using the breeding values in order to evaluate the genetic profile of the animals candidates to selection, and compared the obtained results between the economic selection index and the cluster analyses. The evaluated traits included weaning weight, 18-month weight, scrotal circumference, fat thickness and ribeye area. Economic values were obtained using bioeconomic modelling, simulating a complete cycle production system of beef cattle breeds in Brazil, and the selection objective were the weaning rate and slaughter weight. The chosen selection index was composed of all of the traits used as selection criteria for the simulated production system. During the cluster analyses, the population was divided into two to four groups, in which the groupings containing potential animals were assessed. The animals of the grouping which was used for comparison with the selection index were identified, and most of the bulls that were included in the index were among the best in the analysed group. These results suggest that the cluster analyses can be used as a tool for the selection of animals to be used as parents for future generations.
Se reduces cellular inflammation and lipid peroxides; therefore, its association with CVD and the metabolic syndrome (MetS) has been studied. We aimed to investigate the association between Se intake and the MetS and its parameters (high waist circumference, hyperglycaemia, high blood pressure, high TAG and low HDL-cholesterol) in Brazilian adolescents between 12 and 17 years old. This research is part of the Study of Cardiovascular Risks in Adolescents (ERICA), a Brazilian nationwide school-based study with regional and national relevance. We assessed: (1) socio-demographic data (sex, age, type of school and maternal education) using a self-administered questionnaire; (2) dietary intake using a 24-h recall applied for the whole sample and a second one applied to a subsample to allow within-person variability adjustment; (3) anthropometric data (weight, height, waist circumference) and blood pressure using standardised procedures; and (4) biochemical analyses (fasting glucose, TAG and HDL-cholesterol). Logistic regression was applied, basing the analysis on a theoretical model. Median Se intake was 98·3 µg/d. Hypertension and hyperglycaemia were more prevalent among boys, while a high waist circumference was more frequent in girls, and low HDL-cholesterol levels were higher among private school students. The prevalence of the MetS was 2·6 %. No association between the MetS and its parameters and Se intake was found. This lack of association could be due to an adequate Se intake in the studied population.
There are minimal data directly comparing plasma neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) in aging and neurodegenerative disease research. We evaluated associations of plasma NfL and plasma GFAP with brain volume and cognition in two independent cohorts of older adults diagnosed as clinically normal (CN), mild cognitive impairment (MCI), or Alzheimer’s dementia.
We studied 121 total participants (Cohort 1: n = 50, age 71.6 ± 6.9 years, 78% CN, 22% MCI; Cohort 2: n = 71, age 72.2 ± 9.2 years, 45% CN, 25% MCI, 30% dementia). Gray and white matter volumes were obtained for total brain and broad subregions of interest (ROIs). Neuropsychological testing evaluated memory, executive functioning, language, and visuospatial abilities. Plasma samples were analyzed in duplicate for NfL and GFAP using single molecule array assays (Quanterix Simoa). Linear regression models with structural MRI and cognitive outcomes included plasma NfL and GFAP simultaneously along with relevant covariates.
Higher plasma GFAP was associated with lower white matter volume in both cohorts for temporal (Cohort 1: β = −0.33, p = .002; Cohort 2: β = −0.36, p = .03) and parietal ROIs (Cohort 1: β = −0.31, p = .01; Cohort 2: β = −0.35, p = .04). No consistent findings emerged for gray matter volumes. Higher plasma GFAP was associated with lower executive function scores (Cohort 1: β = −0.38, p = .01; Cohort 2: β = −0.36, p = .007). Plasma NfL was not associated with gray or white matter volumes, or cognition after adjusting for plasma GFAP.
Plasma GFAP may be more sensitive to white matter and cognitive changes than plasma NfL. Biomarkers reflecting astroglial pathophysiology may capture complex dynamics of aging and neurodegenerative disease.
The Radiocarbon Laboratory of the Fluminense Federal University was installed in 2009, and its NEC Single Stage Accelerator Mass Spectrometry system has been operational since 2012. As the first 14C-AMS facility in Latin America, the LAC-UFF became a reference center for radiocarbon (14C) dating in Brazil. Over the years we have implemented pretreatment protocols for several kinds of materials, such as cellulose, soil, bone, and biofuels. In the present paper we describe our current protocols for the preparation of these types of samples. Moreover, after 10 years of operation, with the aim of expanding the range of materials we are able to analyze, we report the results of several tests to improve accuracy, precision and background levels. For example, here we discuss how isotopic fractionation during the graphitization and measurement steps has been controlled. Concerning results interpretation, our research group has been using OxCal chronological models to analyze different contexts such as stromatolite growth, tree rings, soil deposition and marine reservoir effect (MRE) determination.
The carpenter ant Camponotus rufipes has intracellular bacteria in bacteriocytes scattered in the midgut epithelium, which have different amounts of endosymbionts, according to the developmental stages. However, there are no detailed data about the midgut cells in adult workers. The present work aimed to evaluate the morphology and cellular events that coordinate the abundance of endosymbionts in the midgut cells in C. rufipes workers. The midgut epithelium has digestive cells, bacteriocytes, and cells with intermediate morphology. The latter is similar to bacteriocytes, due to the abundance of endosymbionts, and similar to digestive cells, due to their microvilli. The digestive and intermediate cells are rich in autophagosomes and autolysosomes, both with bacteria debris in the lumen. These findings suggest that midgut cells of C. rufipes control the endosymbiont level by the autophagy pathway.
Pelagic seabird populations have declined strongly worldwide. In the North Atlantic there was a huge reduction in seabird populations following the European colonization of the Azores, Madeira and Canary archipelagos but information on seabird status and distribution for the subtropical region of Cabo Verde is scarce, unavailable or dispersed in grey literature. We compiled and compared the historical and current distribution of all seabird species breeding in the Cabo Verde archipelago, updated their relative abundance, investigated their inland habitat preferences, and reviewed their threats. Currently, the breeding seabird community in Cabo Verde is composed of Bulwer’s Petrel Bulweria bulwerii, White-faced Storm-petrel Pelagodroma marina aedesorum, Cape Verde Shearwater Calonectris edwardsii, Cape Verde Storm-petrel Hydrobates jabejabe, Cape Verde Petrel Pterodroma feae, Boyd's Shearwater Puffinus lherminieri boydi, Brown Booby Sula leucogaster, and Red-billed Tropicbird Phaethon aethereus. One breeding species is currently extinct, the Magnificent Frigatebird Fregata magnificens. The relative abundance of Cape Verde Shearwater, Boyd’s Shearwater, Cape Verde Petrel, and Cape Verde Storm-petrel was determined from counts of their nocturnal calls in Santo Antão, São Vicente, Santa Luzia, Branco, Raso and São Nicolau. Cape Verde Petrel occurred only on mountainous islands (Santo Antão, São Nicolau, Santiago, and Fogo) from mid-to high elevations. Larger species such as the Cape Verde Shearwater and Boyd’s Shearwater exhibited a wider distribution in the archipelago, occurring close to the coastline but at lower densities on populated islands. Small procellariforms such as the Cape Verde Storm-petrel occurred at high densities only on rat-free islets and in steep areas of main islands where introduced cats and rats are unlikely to occur. The main threats to seabird populations in Cabo Verde range from predation by introduced predators, habitat alteration or destruction, and some residual human persecution.
OBJECTIVES/GOALS: Utilize polymer-based fiber scaffolds and machine learning methods applied to patient biomarker data to enhance and personalize T cell expansion and production for T cell therapy in chronic lymphocytic leukemia. METHODS/STUDY POPULATION: Scaffolds are 1) generated from a co-polymer blend of PDMS and PCL with controlled fiber diameters and pore size, 2) coated with activating antibodies to CD3 and CD28, and 3) used to stimulate T cells from both healthy donors and CLL patients. CLL patients have pre-annotated mutation burdens and clinical biomarkers. T cell populations will be analyzed for exhaustion markers and phenotypes before, during, and after expansion. Cell functionality will be measured by cytokine secretion, cell cycle analysis, and fold expansion, with respect to platform parameters, and analyzed with inputs of disease markers and exhaustion profile of isolated T cells using regression and random forest classifiers. RESULTS/ANTICIPATED RESULTS: We previously showed that engineering the mechanical rigidity of activating substrates can enhance and rescue T cell expansion from exhausted populations. Now we aim to study a broader range of compositions and geometry of scaffolds with respect to capacity to expand CLL T cells. Preliminary data with fiber diameters ranging from 300 nm to 6 um confirm the effect of geometry in modulating expansion. A biorepository of T cells from 80 CLL patients have been isolated concurrently. Anticipated results include correlating exhaustion profile of T cells with clinical biomarkers and identifying markers associated with expansion on panel of platform parameters. DISCUSSION/SIGNIFICANCE OF IMPACT: T cell therapy has shown particular promise in treating blood cancers, yet significant percentage of T cells isolated from patients undergoing treatments are unresponsive to activation. A powerful tool is to predict if and how patient T cells can be robustly expanded on a personalized approach.
The use of antibiotics as performance enhancers in animal feeding is declining, so Lippia gracilis Schauer essential oil (LGSEO) could be used as a potential substitute for the conventionally used growth promoters. The LGSEO contains components such as carvacrol and thymol, which kill and/or control pathogenic bacteria, increase population of beneficial organisms, act against oxidative processes and onto nutrient digestibility and absorption. The aim of this study was to investigate the action and the effects of LGSEO as a growth promoter in the diet of Japanese quail by examining their productive performance, intestinal microbiology, blood biochemical parameters, hepatic thiobarbituric acid reactive substances (TBARS) content and intestinal gene expression. A total of 252 two-day-old quail (Coturnix coturnix japonica) were assigned to 3 treatments in 7 replicates, using 12 birds per experimental unit. The treatments consisted of a basal diet, basal diet + LGSEO at 400 mg/kg of diet and basal diet + chemical antimicrobial (bacitracin methylene disalicylate) at 500 mg/kg of diet. The experimental period was 34 days. The highest feed intake (P < 0.01) was found in the group receiving the conventional antimicrobial, whereas the best feed conversion (P < 0.01) was shown by the animals receiving LGSEO. Escherichia coli growth was restricted in the quail receiving the growth promoters. Salmonella spp. growth was controlled by the treatment containing the conventional antimicrobial. There was no difference between the treatments (P > 0.05) for the concentration of aspartate aminotransferase and alanine aminotransferase enzymes in the blood or hepatic TBARS content. Birds receiving negative-control treatment exhibited a higher expression of sodium-glucose cotransporter (SGLT1), while those receiving the treatment with essential oil showed lower catalase (CAT) and glutathione peroxidase (GPX7) expressions compared to the conventional antimicrobial and control groups, respectively. Lippia gracilis Schauer essential oil is a powerful performance enhancer for Japanese quail by virtue of its abilities to improve their intestinal environment, balance the microbial population and reduce energy expenditure for oxidative processes.