Miracle-dz/UniFAR-FTUs huggingface dataset:
The epidemiology and global burden of autism spectrum disorders

Background Autism spectrum disorders (ASDs) are persistent disabling neurodevelopmental disorders clinically evident from early childhood. For the first time, the burden of ASDs has been estimated for the Global Burden of Disease Study 2010 (GBD 2010). The aims of this study were to develop global and regional prevalence models and estimate the global burden of disease of ASDs. Method A systematic review was conducted for epidemiological data (prevalence, incidence, remission and mortality risk) of autistic disorder and other ASDs. Data were pooled using a Bayesian meta-regression approach while adjusting for between-study variance to derive prevalence models. Burden was calculated in terms of years lived with disability (YLDs) and disability-adjusted life-years (DALYs), which are reported here by world region for 1990 and 2010. Results In 2010 there were an estimated 52 million cases of ASDs, equating to a prevalence of 7.6 per 1000 or one in 132 persons. After accounting for methodological variations, there was no clear evidence of a change in prevalence for autistic disorder or other ASDs between 1990 and 2010. Worldwide, there was little regional variation in the prevalence of ASDs. Globally, autistic disorders accounted for more than 58 DALYs per 100 000 population and other ASDs accounted for 53 DALYs per 100 000. Conclusions ASDs account for substantial health loss across the lifespan. Understanding the burden of ASDs is essential for effective policy making. An accurate epidemiological description of ASDs is needed to inform public health policy and to plan for education, housing and financial support services.
Sarcopenia e envelhecimento

INTRODUCAO: O envelhecimento esta ligado ao grupo de alteracoes do desenvolvimento que ocorrem nos ultimos anos de vida e esta associado a alteracoes profundas na composicao corporal. Essa perda relacionada a idade foi denominada "sarcopenia". OBJETIVOS: Avaliar a forca muscular no processo de envelhecimento e identificar as variacoes entre os musculos do abdomen, membros superiores e inferiores. MATERIAIS E METODOS: Participaram deste estudo 48 individuos, que foram divididos em quatro grupos de acordo com a faixa etaria: (G1) 11 a 18 anos, (G2) 20 a 26 anos, (G3) 45 a 60 anos e (G4) 66-82 anos. Os instrumentos de avaliacao utilizados foram: 1) esfigmomanometro (EM) - para analise da forca de flexores e extensores da articulacao do joelho; 2) flexao de tronco em decubito dorsal - para avaliacao da forca dos musculos abdominais (graus 0 a 5); 3) dinamometro Jamar - para avaliacao da forca de preensao palmar; e 4) dinamometro Preston Pinch Gauge - para avaliacao da forca na pinca dos dedos (polegar e indicador). RESULTADOS: Foi observado crescente incremento da forca muscular de membros inferiores e superiores com o avancar da idade (G1, G2 e G3) e significativa diminuicao da forca muscular em todos os segmentos avaliados no G4 quando comparado com o G3. Foi observada importante variacao entre a forca muscular dos segmentos avaliados e a idade. O trabalho sugere que a diminuicao da forca muscular torna-se evidente a partir da sexta decada de vida, e que esta apresenta variacoes entre os musculos do abdomen, membros superiores e inferiores.
Trajectories of cognitive decline in different types of dementia

Background. To investigate trajectories of cognitive decline in patients with different types of dementia compared to controls in a longitudinal study. Method. In 199 patients with Alzheimer's disease (AD), 10 with vascular dementia (VaD), 26 with dementia with Lewy bodies (DLB), 20 with behavioural variant frontotemporal dementia (bvFTD), 15 with language variant frontotemporal dementia (lvFTD) and 112 controls we assessed five cognitive domains: memory, language, attention, executive and visuospatial functioning, and global cognition (Mini-Mental State Examination, MMSE). All subjects had at least two neuropsychological assessments (median 2, range 2–7). Neuropsychological data were standardized into z scores using baseline performance of controls as reference. Linear mixed models (LMMs) were used to estimate baseline cognitive functioning and cognitive decline over time for each group, adjusted for age, gender and education. Results. At baseline, patients with dementia performed worse than controls in all cognitive domains (p < 0.05) except visuospatial functioning, which was only impaired in patients with AD and DLB (p < 0.001). During follow-up, patients with AD declined in all cognitive domains (p < 0.001). DLB showed decline in every cognitive domain except language and global cognition. bvFTD showed rapid decline in memory, language, attention and executive functioning (all p < 0.01) whereas visuospatial functioning remained fairly stable. lvFTD declined mostly in attention and executive functioning (p < 0.01). VaD showed decline in attention and executive functioning. Conclusions. We show cognitive trajectories of different types of dementia. These estimations of natural disease course have important value for the design of clinical trials as neuropsychological measures are increasingly being used as outcome measures.
Role of the cystathionine γ lyase/hydrogen sulfide pathway in human melanoma progression

In humans, two main metabolic enzymes synthesize hydrogen sulfide (H2S): cystathionine γ lyase (CSE) and cystathionine β synthase (CBS). A third enzyme, 3‐mercaptopyruvate sulfurtransferase (3‐MST), synthesizes H2S in the presence of the substrate 3‐mercaptopyruvate (3‐MP). The immunohistochemistry analysis performed on human melanoma samples demonstrated that CSE expression was highest in primary tumors, decreased in the metastatic lesions and was almost silent in non‐lymph node metastases. The primary role played by CSE was confirmed by the finding that the overexpression of CSE induced spontaneous apoptosis of human melanoma cells. The same effect was achieved using different H2S donors, the most active of which was diallyl trisulfide (DATS). The main pro‐apoptotic mechanisms involved were suppression of nuclear factor‐κB activity and inhibition of AKT and extracellular signal‐regulated kinase pathways. A proof of concept was obtained in vivo using a murine melanoma model. In fact, either l‐cysteine, the CSE substrate, or DATS inhibited tumor growth in mice. In conclusion, we have determined that the l‐cysteine/CSE/H2S pathway is involved in melanoma progression.
The structure and short-term stability of the emotional disorders: a dimensional approach

Background Factor-analytic studies have found that depressive, bipolar, post-traumatic, obsessive–compulsive, and anxiety disorders – jointly referred to as the emotional disorders – form an internalizing spectrum that includes distress and fear subfactors. However, placement of some disorders is uncertain. Also, prior research analysed dichotomous interview-based diagnoses or dimensional self-report measures. We investigated this structure using a third-generation measure – the Interview for Mood and Anxiety Symptoms (IMAS) – that combines strengths of a clinical interview with dimensional assessment. Method The interview was administered to 385 students and 288 psychiatric out-patients. Participants were reinterviewed 2 months later. Results Exploratory and confirmatory factor analyses identified three factors: distress (depression, generalized anxiety, post-traumatic stress, irritability, and panic syndrome); fear (social anxiety, agoraphobia, specific phobia, and obsessive–compulsive); and bipolar (mania and obsessive–compulsive). The structure was consistent over time and across samples, except that panic and agoraphobia had higher factor loadings in patients. Longitudinal analyses revealed high temporal stability of the factors (test–retest r = 0.72 to 0.87), but also substantial disorder-specific stability. Conclusions This investigation – which bridges diagnostic and self-report studies – found three subfactors of internalizing psychopathology. It provided support for a new subfactor, clarified the placement of obsessive–compulsive and bipolar disorders, and demonstrated that this model generalizes across populations. The accumulating research suggests the need to recognize formally the close links among the emotional disorders, as well as empirical clusters within this spectrum. The IMAS demonstrated strong psychometric properties and can be useful for various research and clinical applications by providing dimensional, interview-based assessment of the emotional disorders.
Pigment patterns in adult fish result from superimposition of two largely independent pigmentation mechanisms

Dorso‐ventral pigment pattern differences are the most widespread pigmentary adaptations in vertebrates. In mammals, this pattern is controlled by regulating melanin chemistry in melanocytes using a protein, agouti‐signalling peptide (ASIP). In fish, studies of pigment patterning have focused on stripe formation, identifying a core striping mechanism dependent upon interactions between different pigment cell types. In contrast, mechanisms driving the dorso‐ventral countershading pattern have been overlooked. Here, we demonstrate that, in fact, zebrafish utilize two distinct adult pigment patterning mechanisms – an ancient dorso‐ventral patterning mechanism, and a more recent striping mechanism based on cell–cell interactions; remarkably, the dorso‐ventral patterning mechanism also utilizes ASIP. These two mechanisms function largely independently, with resultant patterns superimposed to give the full pattern.
Dissociation rates from single-molecule pulling experiments under large thermal fluctuations or large applied force.

Theories that are used to extract energy-landscape information from single-molecule pulling experiments in biophysics are all invariably based on Kramers' theory of the thermally activated escape rate from a potential well. As is well known, this theory recovers the Arrhenius dependence of the rate on the barrier energy and crucially relies on the assumption that the barrier energy is much larger than k_{B}T (limit of comparatively low thermal fluctuations). As was shown already in Dudko et al. [Phys. Rev. Lett. 96, 108101 (2006)PRLTAO0031-900710.1103/PhysRevLett.96. 108101], this approach leads to the unphysical prediction of dissociation time increasing with decreasing binding energy when the latter is lowered to values comparable to k_{B}T (limit of large thermal fluctuations). We propose a theoretical framework (fully supported by numerical simulations) which amends Kramers' theory in this limit and use it to extract the dissociation rate from single-molecule experiments where now predictions are physically meaningful and in agreement with simulations over the whole range of applied forces (binding energies). These results are expected to be relevant for a large number of experimental settings in single-molecule biophysics.
The role of meperidine in reduction of postanesthetic shivering and its possible impact on flap outcomes

Postoperative vascular compromise is a common but critical complication requiring emergent re‐exploration, and remains a chief cause of free flap failure. This study investigated the relationship between postanesthetic shivering (PAS) and the development of postoperative complications associated with free flap reconstruction. One hundred thirty‐six patients who underwent head and neck cancer resection and free flap reconstruction were retrospectively enrolled. Fifteen patients were assigned to the PAS group, while the others were assigned to the non‐PAS (NPAS) group. The odds ratios of acute re‐exploration or total failure of the free flap in the PAS group was 3.5 and 14.9, respectively. The dose of meperidine was positively correlated with PAS prevention in our statistical ROC curve analysis. The minimum effective dose of meperidine for PAS prevention was 0.35 mg/kg with 75% sensitivity and 60% specificity. These findings indicate that an optimal dose of meperidine could prevent PAS, which is shown to be associated with a decrease in the incidence of the early post‐surgical re‐exploration rate of these free flaps related to circulatory compromise. © 2013 Wiley Periodicals, Inc. Microsurgery 34:106–111, 2014.
Outcome of contralateral C7 transfer to two recipient nerves in 22 patients with the total brachial plexus avulsion injury

The treatment of total brachial plexus avulsion injury is difficult with unfavorable prognosis. This report presents our experience on the contralateral C7 (CC7) nerve root transfer to neurotize two recipient nerves in the patients with total BPAI. Twenty‐two patients underwent CC7 transfer to two target nerves in the injured upper limb. The patients' ages ranged from 13 to 48 years. The entire CC7 was transferred to pedicled ulnar nerve in the first stage. The interval between trauma and surgery ranged from 1 to 13 months. The ulnar nerve was transferred to recipients (median nerve and biceps branch or median nerve and triceps branch) at 2–13 months after first operation. The motor recovery of wrist and finger flexor to M3 or greater was achieved in 68.2% of patients, the sensory recovery of median nerve area recovered to S3 or greater in 45.5% of patients. The functional recovery of elbow flexor to M3 or greater was achieved in 66.7% of patients with repair of biceps branch and 20% of patients with repair of the triceps branch (P < 0.05). There were no statistical differences in median nerve function recovery at comparisons of the age younger and older than 20‐years‐old and the intervals between trauma and surgery. In conclusion, the use of CC7 transfer for repair two recipient nerves might be an option for treatment of total BPAI. The functional recovery of the repaired biceps branch appeared to be better than that of the triceps branch. © 2013 Wiley Periodicals, Inc. Microsurgery 33:605–611, 2013.
Can engagement predict outcome in Assertive Outreach

Background: Much attention has been paid to examining the impact of Assertive Outreach management on hospital usage. However, little attempt has been made to examine the role of engagement in reducing hospital usage despite the emphasis placed on engagement when delivering care in such services. Aims: The main aim of this study was to see if engagement could predict future hospital usage. Method: An observer rated measure of engagement was completed on 32 clients under the management of an Assertive Outreach Team (AOT) at Time1. A regression was used to see if engagement scores at Time1 could predict hospital usage (admissions and bed days) at Time2. Results: There were no significant predictors of hospital usage from total engagement scores, individual dimensions of engagement or previous hospital usage. However, certain indices of engagement were found to be more important than others. Previous admissions were shown to account for some of the variance when predicting future admissions. Hospital usage was shown to reduce significantly at Time2 compared with Time1 and pre Assertive Outreach. Conclusions: Engagement may not be a predictor of hospital usage per se but may provide a platform for other interventions, which may lead to reductions in hospital usage.
No progression of the alterations in the cortical thickness of individuals with schizophrenia-spectrum disorder: a three-year longitudinal magnetic resonance imaging study of first-episode patients

Background Cortical thickness measurement offers an index of brain development processes. In healthy individuals, cortical thickness is reduced with increasing age and is related to cognitive decline. Cortical thinning has been reported in schizophrenia. Whether cortical thickness changes differently over time in patients and its impact on outcome remain unanswered. Method Data were examined from 109 patients and 76 healthy controls drawn from the Santander Longitudinal Study of first-episode schizophrenia for whom adequate structural magnetic resonance imaging (MRI) data were available (n = 555 scans). Clinical and cognitive assessments and MRIs were acquired at three regular time points during a 3-year follow-up period. We investigated likely progressive cortical thickness changes in schizophrenia during the first 3 years after initiating antipsychotic treatment. The effects of cortical thickness changes on cognitive and clinical variables were also examined along with the impact of potential confounding factors. Results There were significant diagnoses × scan time interaction main effects for total cortical thickness (F 1,309.1 = 4.60, p = 0.033) and frontal cortical thickness (F 1,310.6 = 5.30, p = 0.022), reflecting a lesser thinning over time in patients. Clinical and cognitive outcome was not associated with progressive cortical changes during the early years of the illness. Conclusions Cortical thickness abnormalities do not unswervingly progress, at least throughout the first years of the illness. Previous studies have suggested that modifiable factors may partly account for cortical thickness abnormalities. Therefore, the importance of implementing practical actions that may modify those factors and improve them over the course of the illness should be highlighted.
Predictors of sepsis in moderately severely injured patients: an analysis of the National Trauma Data Bank.

BACKGROUND Post-traumatic sepsis is a significant cause of in-hospital death. However, socio-demographic and clinical characteristics that may predict sepsis in injured patients are not well known. The objective of this study was to identify risk factors that may be associated with post-traumatic sepsis. METHODS Retrospective analysis of patients in the National Trauma Data Bank for 2007-2008. Patients older than 16 years of age with an Injury Severity Score (ISS) ≥ 9 points were included. Multivariable logistic regression was used to determine association of sepsis with patient (age, gender, ethnicity, and insurance status), injury (mechanism, ISS, injury type, hypotension), and clinical (major surgical procedure, intensive care unit admission) characteristics. RESULTS Of a total of 1.3 million patients, 373,370 met the study criteria, and 1.4% developed sepsis, with an associated mortality rate of approximately 20%. Age, male gender, African-American race, hypotension on emergency department presentation, and motor vehicle crash as the injury mechanism were independently associated with post-traumatic sepsis. CONCLUSIONS Socio-demographic and injury factors, such as age, race, hypotension on admission, and severity and mechanism of injury predict post-traumatic sepsis significantly. Further exploration to explain why these patient groups are at increased risk is warranted in order to understand better and potentially prevent this life-threatening complication.
Functional cloning of a gp100‐reactive T‐cell receptor from vitiligo patient skin

We isolated gp100‐reactive T cells from perilesional skin of a patient with progressive vitiligo with superior reactivity toward melanoma cells compared with tumor‐infiltrating lymphocytes 1520, a melanoma‐derived T‐cell line reactive with the same cognate peptide. After dimer enrichment and limited dilution cloning, amplified cells were subjected to reverse transcription and 5′ RACE to identify the variable TCRα and TCRβ subunit sequences. The full‐length sequence was cloned into a retroviral vector separating both subunits by a P2A slippage sequence and introduced into Jurkat cells and primary T cells. Cytokine secreted by transduced cells in response to cognate peptide and gp100‐expressing targets signifies that we have successfully cloned a gp100‐reactive T‐cell receptor from actively depigmenting skin.
Abnormalities of cortical structures in adolescent-onset conduct disorder

Background. Converging evidence has revealed both functional and structural abnormalities in adolescents with early-onset conduct disorder (EO-CD). The neurological abnormalities underlying EO-CD may be different from that of adolescent-onset conduct disorder (AO-CD) patients. However, the cortical structure in AO-CD patients remains largely unknown. The aim of the present study was to investigate the cortical alterations in AO-CD patients. Method. We investigated T1-weighted brain images from AO-CD patients and age-, gender- and intelligence quotient-matched controls. Cortical structures including thickness, folding and surface area were measured using the surface-based morphometric method. Furthermore, we assessed impulsivity and antisocial symptoms using the Barratt Impulsiveness Scale (BIS) and the Antisocial Process Screening Device (APSD). Results. Compared with the controls, we found significant cortical thinning in the paralimbic system in AO-CD patients. For the first time, we observed cortical thinning in the precuneus/posterior cingulate cortex (PCC) in AO-CD patients which has not been reported in EO-CD patients. Prominent folding abnormalities were found in the paralimbic structures and frontal cortex while diminished surface areas were shown in the precentral and inferior temporal cortex. Furthermore, cortical thickness of the paralimbic structures was found to be negatively correlated with impulsivity and antisocial behaviors measured by the BIS and APSD, respectively. Conclusions. The present study indicates that AO-CD is characterized by cortical structural abnormalities in the paralimbic system, and, in particular, we highlight the potential role of deficient structures including the precuneus and PCC in the etiology of AO-CD.
Impaired decision-making in symptomatic anorexia and bulimia nervosa patients: a meta-analysis

Background. Impaired decision-making is a potential neurocognitive phenotype of eating disorders. It is therefore important to disentangle the decision-making deficits associated with the eating disorder subtypes and determine whether this putative impairment is a state or trait marker of the disease or more related to starvation. We systematically reviewed the literature on decision-making in eating disorders and conducted a meta-analysis to explore its role in anorexia nervosa (AN), bulimia nervosa (BN) and binge-eating disorder (BED). Method. A search of the Medline and EMBASE databases and article references was performed. A total of 23 studies (2044 participants) met the selection criteria. When the Iowa gambling task (IGT) was used in at least three of the studies, a meta-analysis was run. Results. IGT performance was significantly worse in patients with an eating disorder diagnosis (AN, BN or BED) compared with healthy controls, indicating that eating disorders have a negative effect on decision-making. Hedges’ g effect sizes were moderate to large (−0.72 in AN, −0.62 in BN, and −1.26 in BED). Recovered AN patients had IGT scores similar to those of healthy controls. Restrictive AN patients had significantly lower IGT net scores than purging AN patients, and both AN subtypes had worse performances than healthy controls. Age and body mass index did not explain results. Conclusions. Decision-making was significantly altered in patients with eating disorders. Poor decision-making was more pronounced during the acute phase than in the recovered state of AN. Nutritional status during the acute phase of the disease did not seem to influence decision-making skills.