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INTRODUCTION: In-utero myelomeningocele repair is the gold standard treatment after the publication of the MOMS trial. We have performed a retrospective analysis from our prospective in-utero myelomeningocele closure database (started in 2011), and selected only patients with the incontinent bladder pattern according to the Leal da Cruz categorization (Leal da Cruz, et al. J Urol 2015) to review mid-term clinical outcomes. MATERIAL AND METHODS: We identified 30 patients with leaking pressure under 40 cmH20 (incontinent pattern) at first urodynamic evaluation (UE) from the whole cohort of 129 patients who underwent in-utero myelomeningocele closure. We selected patients with a minimum active follow-up of 48 weeks (4 years) to provide mid-term data. Patients were followed according to the same protocol with the proposal of yearly sonogram and UE. All clinical and radiological data were reviewed. RESULTS: We found 11 patients, with a mean age of 10.2 years old, median age at diagnosis of 19 weeks, surgery performed at 25.6 weeks and birth at 33.2 weeks. The mean follow-up was 81.73 months (6.81 years). Mean age at first urological evaluation was 5 months, and UE was 5.6 months. Febrile UTI incidence in the whole observation period was 27.3%. The average initial DLPP was 30 cmH2O. 71.4% of the patients had bladder capacity less than 50% of the expected age. Bladder compliance could not be determined in 63.7% of cases due to leakage. A total of 5.7 urodynamic studies per patient were performed. Surgery was recommended for 8 patients and done in 4 (36.3%). Surgery consisted of Macedo catheterizable reservoir and Macedo-Malone ACE, associated with urethral sling (2 patients) and bladder neck closure (2). It took an average of 5 UE before the final surgical decision was confirmed. Last urodynamic study showed persistent leakage and low DLPP in 3 patients, normal bladder pressure in 2 (under CIC and anticholinergics), and 1 patient changed his bladder pattern into a high risk group. All operated patients are fully continent (urinary >4hs) and fecal. CONCLUSION: Despite initially presenting a low risk for the most patients, we found surgery in 36.3% (4/11) and if we considered all cases with surgery indication proposed to treat urinary incontinence it would be even higher (72.7%).
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PURPOSE: The prevalence of myopia in Scandinavia tends to be lower than in other parts of the world. This study aimed to investigate the incidence of myopia and its predictors in Swedish children to characterise this trend. METHODS: A 2-year longitudinal study was conducted following a cohort of schoolchildren aged 8-16 years. Myopia was defined as a spherical equivalent refraction (SER) ≤ -0.50 D. The study enrolled 128 participants, 70 (55%) females with a mean age of 12.0 years (SD = 2.4). RESULTS: The cumulative incidence of myopia during the follow-up period was 5.5%, and the incidence rate of myopia was 3.2 cases per 100 person-years. Participants with myopia at baseline exhibited a faster increase in refractive error during the follow-up period. Likewise, participants with two myopic parents exhibited a more marked change towards myopia, regardless of their initial refractive error. CONCLUSION: In the current study, similar to prevalence, the incidence of myopia was low when compared with other parts of the world. These results lead us to formulate a new hypothesis that the normal emmetropisation process may be protected by low educational pressure practised in Sweden during early childhood. Further research is necessary to test this new hypothesis.
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Miopia , Refração Ocular , Humanos , Suécia/epidemiologia , Feminino , Miopia/epidemiologia , Miopia/fisiopatologia , Criança , Masculino , Incidência , Adolescente , Refração Ocular/fisiologia , Prevalência , Estudos Longitudinais , SeguimentosRESUMO
We present a multiscale stochastic analysis of foreign exchange rates using the H-theory formalism, which provides a hierarchical intermittency model for the information cascade in the currency market. We examine the distributions of returns and volatilities for the three most traded currency pairs: euro-U.S. dollar, U.S. dollar-Japanese yen, and British pound-U.S. dollar. We find that these markets have a hierarchy of timescales, with larger markets exhibiting more hierarchy levels. We provide a theoretical framework for understanding why the number of levels in the information cascade increases with market size, in analogy with similar behavior for the energy cascade in turbulence as a function of Reynolds number. We briefly argue that using turbulence-like models for financial markets can also provide valuable insights for developing efficient algorithmic trading strategies.
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The profile of executive function (EF) in adults with Schizophrenia (SCZ) and autism spectrum disorder (ASD) remains unclear. This study aims to ascertain if distinct EF patterns can be identified between each clinical condition by comparing the neuropsychological profile of adults with SCZ and ASD, for whom the differential diagnosis is still highly challenging. Forty-five individuals (15 SCZ, 15 ASD, 15 controls) matched for age, sex, education level, and handedness underwent intelligence evaluation and neuropsychological testing for working memory, inhibition, planning and set-shifting, and verbal fluency subdomains. Principal component analysis (2D-PCA) using variables representing 4 domains was employed to identify patterns in neuropsychological profiles. The ASD group had lower scores on the Digits Forward subtest compared to the SCZ group (7.2 ± 2.1 vs. 9.3 ± 1.9, p = 0.003; Cohen's d: 1.05). ASD also performed significantly worse on the Stroop Word Test compared to the control group (77.7± 17.9 vs. 98.0 ± 12.7, p = 0.009; Cohen's d: 1.31). No significant differences were observed between ASD and SCZ on other EF measures. The larger contributors for the dimensions in 2D-PCA were the Digits Forward subtest and Stroop Word Test. Still, there was substantial overlap between the clinical groups. This study suggests a high degree of similarity of EF between SCZ and ASD. Through four EF measures, the discrimination of low and high-functioning EF groups spanning both diagnostic categories may help to identify the individuals who could better benefit from cognitive rehabilitation strategies.
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Real-time functional magnetic resonance imaging (rt-fMRI) neurofeedback (NF), a training method for the self-regulation of brain activity, has shown promising results as a neurorehabilitation tool, depending on the ability of the patient to succeed in neuromodulation. This study explores connectivity-based structural and functional success predictors in an NF n-back working memory paradigm targeting the dorsolateral prefrontal cortex (DLPFC). We established as the NF success metric the linear trend on the ability to modulate the target region during NF runs and performed a linear regression model considering structural and functional connectivity (intrinsic and seed-based) metrics. We found a positive correlation between NF success and the default mode network (DMN) intrinsic functional connectivity and a negative correlation with the DLPFC-precuneus connectivity during the 2-back condition, indicating that success is associated with larger uncoupling between DMN and the executive network. Regarding structural connectivity, the salience network emerges as the main contributor to success. Both functional and structural classification models showed good performance with 77% and 86% accuracy, respectively. Dynamic switching between DMN, salience network and central executive network seems to be the key for neurofeedback success, independently indicated by functional connectivity on the localizer run and structural connectivity data.
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BACKGROUND: Deficits in executive function (EF) are consistently reported in autism spectrum disorders (ASD). Tailored cognitive training tools, such as neurofeedback, focused on executive function enhancement might have a significant impact on the daily life functioning of individuals with ASD. We report the first real-time fMRI neurofeedback (rt-fMRI NF) study targeting the left dorsolateral prefrontal cortex (DLPFC) in ASD. METHODS: Thirteen individuals with autism without intellectual disability and seventeen neurotypical individuals completed a rt-fMRI working memory NF paradigm, consisting of subvocal backward recitation of self-generated numeric sequences. We performed a region-of-interest analysis of the DLPFC, whole-brain comparisons between groups and, DLPFC-based functional connectivity. RESULTS: The ASD and control groups were able to modulate DLPFC activity in 84% and 98% of the runs. Activity in the target region was persistently lower in the ASD group, particularly in runs without neurofeedback. Moreover, the ASD group showed lower activity in premotor/motor areas during pre-neurofeedback run than controls, but not in transfer runs, where it was seemingly balanced by higher connectivity between the DLPFC and the motor cortex. Group comparison in the transfer run also showed significant differences in DLPFC-based connectivity between groups, including higher connectivity with areas integrated into the multidemand network (MDN) and the visual cortex. CONCLUSIONS: Neurofeedback seems to induce a higher between-group similarity of the whole-brain activity levels (including the target ROI) which might be promoted by changes in connectivity between the DLPFC and both high and low-level areas, including motor, visual and MDN regions.
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Transtorno do Espectro Autista , Neurorretroalimentação , Humanos , Função Executiva , Transtorno do Espectro Autista/terapia , Encéfalo/diagnóstico por imagem , Mapeamento EncefálicoRESUMO
The global all-ages prevalence of epidemiologically-measured 'functional' presbyopia was estimated at 24.9% in 2015, affecting 1.8 billion people. This prevalence was projected to stabilise at 24.1% in 2030 due to increasing myopia, but to affect more people (2.1 billion) due to population dynamics. Factors affecting the prevalence of presbyopia include age, geographic location, urban versus rural location, sex, and, to a lesser extent, socioeconomic status, literacy and education, health literacy and inequality. Risk factors for early onset of presbyopia included environmental factors, nutrition, near demands, refractive error, accommodative dysfunction, medications, certain health conditions and sleep. Presbyopia was found to impact on quality-of-life, in particular quality of vision, labour force participation, work productivity and financial burden, mental health, social wellbeing and physical health. Current understanding makes it clear that presbyopia is a very common age-related condition that has significant impacts on both patient-reported outcome measures and economics. However, there are complexities in defining presbyopia for epidemiological and impact studies. Standardisation of definitions will assist future synthesis, pattern analysis and sense-making between studies.
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Presbiopia , Qualidade de Vida , Presbiopia/epidemiologia , Presbiopia/fisiopatologia , Humanos , Prevalência , Fatores de Risco , Saúde Global , Distribuição por IdadeRESUMO
INTRODUCTION: After 5 years experience with the GUD (glandular urethral disassembly) technique for distal hypospadias, we present the GUDplay technique, incorporating Thiersch-Duplay tubularization of the plate till the coronal area, disassembling the glans aggressively and refurbishing the glans. METHODS: We defined the urethral plate and designed an inverted Y incision to open the glans in two wings. The glans was entirely detached from the corpora to gain a great mobility that allowed minor cranial mobilization of the urethra and caudal rotation of the wings. In sequence, there are well-known steps: Duplay urethroplasty, spongioblasts and a Dartos flap to cover the neourethra. The glans was connected to the urethra by 6.0 PDS sutures except in the ventral meatus and the glans wings are joined in the midline. RESULTS: The 5-year-old patient had midshaft hypospadias without previous surgery. The catheter was removed after a week and the healing appears to be good. DISCUSSION: We combined principles of total glans deconstruction in association to Duplay tubularization and then lifted it up to the tip of the glans divided in two wide and mobile wings. We have treated a small series of 6 cases without complications and mean follow-up of 6.2 months.
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Hipospadia , Pênis , Procedimentos de Cirurgia Plástica , Uretra , Procedimentos Cirúrgicos Urológicos Masculinos , Hipospadia/cirurgia , Masculino , Humanos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Pré-Escolar , Pênis/cirurgia , Pênis/anormalidades , Procedimentos de Cirurgia Plástica/métodos , Uretra/cirurgia , Uretra/anormalidades , Escroto/cirurgia , Retalhos CirúrgicosRESUMO
INTRODUCTION: The paradigm in mental health care is progressively moving towards a recovery-focused perspective. Thus, there is a need for validated instruments to measure recovery in bipolar disorder (BD). The Bipolar Recovery Questionnaire (BRQ) is the most used instrument to assess it. The aim of this study was to translate and perform a cross-cultural adaptation of the BRQ to European Portuguese (PT-PT) and to explore further associations of recovery with sociodemographic and emotional regulation, as well as recovery predictors to inform future research and clinical practice. METHODS: The BRQ was forward-translated and back-translated until a consensus version was found, and a test-retest design was used to assess temporal stability. Participants were recruited in public hospitals and organizations supporting people with BD, either referred by their psychiatrists or psychologists or through self-referral. Eighty-eight individuals diagnosed with BD were recruited to complete a battery of Portuguese-validated self-report questionnaires to assess recovery (BRQ), clinical mood symptoms (Hospital Anxiety and Depression Scale), affect (Positive and Negative Affect Scale), well-being (brief Quality of Life for Bipolar Disorder; Satisfaction with Life Scale) and emotion regulation (Difficulties in Emotion Regulation Scale). RESULTS: The BRQ showed excellent internal consistency with a Cronbach alpha of 0.92, and test-retest exhibited good reliability (r = 0.88). Construct validity was confirmed through/by positive and moderate correlations with quality of life (QoL; r = 0.58) and positive affect (r = 0.52), and negative moderate correlations with depression (r = -0.64), and negative affect (r = -0.55). Both satisfaction with life (ß = 0.38, p = 0.010) and recovery (ß = 0.34, p = 0.022) impacted quality of life, supporting the BRQ's incremental validity. Depressive symptoms and emotion dysregulation accounted for 51% of its variance. CONCLUSION: The BRQ is a valid and reliable instrument to measure recovery in people with BD in the Portuguese population and is suitable for both clinical and research contexts.
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Transtorno Bipolar , Traduções , Humanos , Transtorno Bipolar/psicologia , Masculino , Feminino , Portugal , Adulto , Pessoa de Meia-Idade , Inquéritos e Questionários , Reprodutibilidade dos Testes , Qualidade de VidaRESUMO
International guidelines endorse psychological treatment for Bipolar Disorder (BD); however, the absence of a recognised gold-standard intervention requires further research. A Dialectical Behaviour Therapy (DBT) skills group intervention with 12 sessions was developed. This pilot randomised controlled trial (RCT) aims to evaluate the feasibility, acceptability, and outcomes variance of Bi-REAL - Respond Effectively, Assertively, and Live mindfully, tailored for individuals with BD, in preparation for a future RCT. METHODS: 52 participants (female = 62.7 %; mean age = 43.2 ± 11.1) with BD were randomised by blocks to either the experimental group (EG; n = 26; Bi-REAL + Treatment as Usual, TAU) receiving 12 weekly 90-minutes sessions, or the control group (CG; n = 26, TAU). Feasibility and acceptability were assessed with a multimethod approach (qualitative interviews, semi-structured clinical interviews and a battery of self-report questionnaires - candidate main outcomes Bipolar Recovery Questionnaire (BRQ) and brief Quality of Life for Bipolar Disorder (QoL.BD)). All participants were evaluated at baseline (T0), post-intervention (T1) and 3-month follow-up (T2). RESULTS: Acceptability was supported by participants' positive feedback and ratings of the sessions and programme overall, as well as the treatment attendance (86.25 % of sessions attended). The trial overall retention rate was 74.5 %, with CG having a higher dropout rate across the 3-timepoints (42.31 %). A significant Time × Group interaction effect was found for BRQ and QoL.BD favouring the intervention group (p < .05). LIMITATIONS: The assessors were not blind at T1 (only at T2). Recruitment plan was impacted due to COVID-19 restrictions and replication is questionable. High attrition rates in the CG. CONCLUSIONS: The acceptability of Bi-REAL was sustained, and subsequent feasibility testing will be necessary to establish whether the retention rates of the overall trial improve and if feasibility is confirmed, before progressing to a definitive trial.
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Transtorno Bipolar , Estudos de Viabilidade , Psicoterapia de Grupo , Humanos , Transtorno Bipolar/terapia , Feminino , Masculino , Adulto , Projetos Piloto , Psicoterapia de Grupo/métodos , Pessoa de Meia-Idade , Terapia do Comportamento Dialético/métodos , Qualidade de Vida , Resultado do TratamentoRESUMO
Inhibition is implicated across virtually all human experiences. As a trade-off of being very efficient, this executive function is also prone to many errors. Rodent and computational studies show that midbrain regions play crucial roles during errors by sending dopaminergic learning signals to the basal ganglia for behavioural adjustment. However, the parallels between animal and human neural anatomy and function are not determined. We scanned human adults while they performed an fMRI inhibitory task requiring trial-and-error learning. Guided by an actor-critic model, our results implicate the dorsal striatum and the ventral tegmental area as the actor and the critic, respectively. Using a multilevel and dimensional approach, we also demonstrate a link between midbrain and striatum circuit activity, inhibitory performance, and self-reported autistic and obsessive-compulsive subclinical traits.
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Aprendizagem , Área Tegmentar Ventral , Adulto , Animais , Humanos , Área Tegmentar Ventral/fisiologia , Aprendizagem/fisiologia , Gânglios da Base , Corpo Estriado/fisiologia , Inibição NeuralRESUMO
Background: Autosomal recessive interleukin (IL)-12p40 deficiency is a genetic etiology of Mendelian susceptibility to mycobacterial disease (MSMD). It has been described in â¼50 patients, usually with onset at childhood with Bacille Calmette-Guérin (BCG) and Salmonella infections. Case Presentation: A male patient born to consanguineous parents was diagnosed with presumed lymph node MSMD at the age of 13 years after ocular symptoms. A positive history of inborn error of immunity was present: BCG reaction, skin abscess, and recurrent oral candidiasis. Abnormal measurements of cytokine levels, IL-12p40 and interferon-gamma (IFN-γ), lead to the diagnosis of MSMD. Genetic analysis showed a mutation in exon 7 of the IL12B gene. Currently, the patient is alive under prophylactic antibiotics. Conclusion: We report a rare case of IL-12p40 deficiency in a Latin American patient. Medical history was crucial for immune defect suspicion, as confirmed by precision diagnostic medicine tools.
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Subunidade p40 da Interleucina-12 , Infecções por Mycobacterium , Humanos , Masculino , Criança , Subunidade p40 da Interleucina-12/genética , Brasil , Infecções por Mycobacterium/diagnóstico , Infecções por Mycobacterium/genética , Mutação , LinfonodosRESUMO
INTRODUCTION: The Macedo ileal catheterizable channel was published in 2000 and consists of an enterocystoplasty with a catheterizable channel that precludes the need of the appendix for the efferent channel. After 25 years of experience with this technique, we decided to review our experience in a select subgroup of cases performed and followed exclusively by the author in a non-teaching hospital facility after the latest modifications of the procedure. MATERIALS AND METHODS: Since 2008, we have refined our technique with the following modifications: small skin transverse incision instead of longitudinal one, with a semicircular flap for further stoma creation in the midline and importantly the scissors maneuver. This maneuver consists of crossing two 2 cm rectus abdominis muscle flaps in the midline to create a neosphincter over the catheterizable channel. Follow-up was defined as the interval between the date of surgery and last visit to the clinic. We defined stoma continence if the dry interval between catheterization was 4hs. Early and late complications were reported as well as the reintervention rate. Additional procedures in association with bladder augmentation were also appointed. RESULTS: We have treated 49 patients. Indications were spinal dysraphism (71.4%), mainly myelomeningocele (65.3%), and others (PUV, exstrophy, anorectal anomalies). Urodynamic evaluation showed bladder pressure of high risk for upper urinary tract involvement (66%), urinary incontinence (24.5%), conversion of incontinent urinary diversion (3.8%), one exstrophy patient not considered (1.9%). Mean age at surgery was 88 months (7.3 years), 21 patients had additional surgeries in addition to Macedo ileal catheterizable channel: Macedo-Malone LACE procedure in 21 patients and bladder neck surgery to improve continence in 5 patients. Urinary stoma continence was 93.9% (46/49) after first surgery, one patient had a serous line valve revised, two patients still leak after 2 h and await revision. Overall enterocystoplasty complications rate was 12.24% and consisted of urinary leakage in 3 cases and channel/stoma stricture in 3 cases. All patients treated for sphincteric deficiency associated with bladder reconstruction are continent per urethra. Urinary stoma revision for stricture was done in 2 cases and consisted on suprafascial approach and reanastomosis, one patient resolved with dilatation of the channel to the stoma. Mean follow up is 100 months (8.3 years). CONCLUSION: We confirmed in a long term follow-up based on face-to-face visits with 8.3 years mean follow-up that the Macedo procedure associated with the scissors maneuver is associated with 93.9% continence of the stoma. Overall complications rate was 12.24%. The cosmetic aspect with a small transverse incision and a midline stoma is another strength of the technique.
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Coletores de Urina , Humanos , Seguimentos , Masculino , Feminino , Íleo/cirurgia , Cateterismo Urinário/métodos , Estudos Retrospectivos , Fatores de Tempo , Criança , Pré-Escolar , Resultado do Tratamento , Bexiga Urinária/cirurgia , Adolescente , Procedimentos Cirúrgicos Urológicos/métodosRESUMO
The Ruminative Response Scale for Eating Disorders (RRS-ED) measures ruminative thought content specifically related to eating disordered themes, assessing two domains of rumination, brooding and reflection. This study aims to examine the factor structure of the RRS-ED in a Portuguese community sample, using correlated two-factor models, unifactorial and bifactor models and test for invariance across sex. A sample of 535 adults (179 male; 356 female) filled out the RRS-ED. A subsample (n=347) answered additional measures of repetitive negative thinking and eating psychopathology. The bifactor model of the RRS-ED provided the best fit, demonstrating a reliable general rumination factor. Also, the bifactor model of the RRS-ED was invariant across sex. RRS-ED showed moderate to strong correlations with negative perseverative thinking and eating psychopathology. Both domain-specific factors of RRS-ED were associated with higher levels of eating psychopathology. Findings indicate that RRS-ED is a reliable and valid measure to assess the ruminative response from the general population in Portugal, showing initial evidence that supports the use of a total score of RRS-ED as an overall measure of rumination, while specific factor scores should be reported with caution. Future studies are needed to replicate the findings and further corroborate the unidimensionality of the RRS-ED.
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Depressão , Transtornos da Alimentação e da Ingestão de Alimentos , Adulto , Humanos , Masculino , Feminino , Portugal , Psicometria , Pensamento/fisiologia , Transtornos da Alimentação e da Ingestão de Alimentos/diagnósticoRESUMO
Purpose: In vivo confocal microscopy (IVCM) of the cornea is a valuable tool for clinical assessment of the cornea but does not provide stand-alone diagnostic support. The aim of this work was to develop an artificial intelligence (AI)-based decision-support system (DSS) for automated diagnosis of Acanthamoeba keratitis (AK) using IVCM images. Methods: The automated workflow for the AI-based DSS was defined and implemented using deep learning models, image processing techniques, rule-based decisions, and valuable input from domain experts. The models were evaluated with 5-fold-cross validation on a dataset of 85 patients (47,734 IVCM images from healthy, AK, and other disease cases) collected at a single eye clinic in Sweden. The developed DSS was validated on an additional 26 patients (21,236 images). Results: Overall, the DSS uses as input raw unprocessed IVCM image data, successfully separates artefacts from true images (93% accuracy), then classifies the remaining images by their corneal layer (90% accuracy). The DSS subsequently predicts if the cornea is healthy or diseased (95% model accuracy). In disease cases, the DSS detects images with AK signs with 84% accuracy, and further localizes the regions of diagnostic value with 76.5% accuracy. Conclusions: The proposed AI-based DSS can automatically and accurately preprocess IVCM images (separating artefacts and sorting images into corneal layers) which decreases screening time. The accuracy of AK detection using raw IVCM images must be further explored and improved. Translational Relevance: The proposed automated DSS for experienced specialists assists in diagnosing AK using IVCM images.
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Ceratite por Acanthamoeba , Humanos , Ceratite por Acanthamoeba/diagnóstico , Inteligência Artificial , Córnea/diagnóstico por imagem , Microscopia Confocal/métodos , Projetos de PesquisaRESUMO
INTRODUCTION: Neurodevelopmental disorders are characterized by delay or variation in the acquisition of abilities or skills in several domains of development: motor, social, language, and cognitive. These disorders can manifest from childhood to adulthood, and therefore continuity of care is essential throughout these various developmental periods. However, several studies show that there is limited access to adult health care in this clinical domain. METHODS: A cross-sectional observational study was carried out by distributing an anonymous survey among psychiatry physicians, at a national level, in the period between October 6 and December 6, 2020. RESULTS: Data was collected from 83 psychiatry physicians (43 residents and 40 specialists). At the national level, only 16.9% of psychiatric departments had a subspecialized neurodevelopment clinic. Physicians reported that they observed few patients with neurodevelopment disorders: 72.3% observed one or none per week. When there was a neurodevelopmental disorders clinic in the psychiatry department, 64.3% of physicians reported that this clinic did not include a multidisciplinary team. The transition of these patients from the pediatric/child and adolescent psychiatry department to the psychiatric department occurred through regular intrahospital transfer in 51.8% of cases, but it occurred through a specific protocol or with a transitional medical appointment in only 15.7% of cases. Finally, 88% of psychiatry physicians considered the existence of a neurodevelopmental disorders clinic in adults to be pertinent and reported not having specialized training in the field of neurodevelopment. CONCLUSION: This study made it possible to identify some difficulties and barriers regarding adequate access for patients with neurodevelopmental disorders throughout the various developmental stages, from childhood to adulthood: lack of training in this clinical field, need of better communication between departments, lack of specific protocols, shortage of multidisciplinary teams, and asymmetry in the distribution of differentiated care.
Introdução: As perturbações do neurodesenvolvimento são caracterizadas pelo atraso ou alteração na aquisição de capacidades em vários domínios do desenvolvimento: motor, social, de linguagem e cognitivo. Deste modo, estas perturbações podem manifestar-se desde a infância até à vida adulta, exigindo a continuidade dos cuidados de saúde. Contudo, vários estudos mostram que existem limitações de acesso dos adultos aos cuidados de saúde nesta área clínica. Métodos: Foi realizado um estudo observacional descritivo transversal através da aplicação de um questionário anónimo a médicos de Psiquiatria, a nível nacional, no período compreendido entre 6 de outubro e 6 de dezembro de 2020. Resultados: Foram recolhidos dados de 83 médicos de Psiquiatria (43 internos de especialidade e 40 especialistas). A nível nacional, apenas 16,9% dos serviços de Psiquiatria tinham uma consulta diferenciada de neurodesenvolvimento. Os médicos respondentes reportaram ter observado poucos doentes com perturbações do neurodesenvolvimento: 72,3% observaram um ou nenhum por semana. Dos médicos que referiram ter consulta de neurodesenvolvimento no seu serviço, a maioria (64,3%) não dispunha de equipa multidisciplinar. A transição destes doentes da consulta de Pediatria do Neurodesenvolvimento/Pedopsiquiatria para a de Psiquiatria ocorria em 51,8% por transferência regular intra-hospitalar, contudo em apenas 15,7% ocorria através de protocolo específico ou com a realização de consulta de transição. Por fim, 88% dos médicos de Psiquiatria consideraram ser pertinente a existência de uma consulta de perturbações do neurodesenvolvimento no adulto e relataram não possuir formação especializada na área do neurodesenvolvimento. Conclusão: Este estudo possibilitou enumerar alguns obstáculos para que os doentes com perturbações do neurodesenvolvimento usufruam de uma transição de cuidados de saúde para a vida adulta favorável: carência de conhecimento na área, necessidade de melhor comunicação entre serviços, falta de protocolos específicos, escassez de equipas multidisciplinares e assimetria na distribuição de cuidados de saúde diferenciados.
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Transtornos do Neurodesenvolvimento , Médicos , Psiquiatria , Adulto , Adolescente , Humanos , Criança , Adulto Jovem , Estudos Transversais , Transtornos do Neurodesenvolvimento/diagnóstico , Encaminhamento e ConsultaRESUMO
PURPOSE: To assess reading performance and report normative values for normal sighted Portuguese schoolchildren using the Portuguese version of the MNREAD reading acuity chart. METHODS: Children in the 2nd, 4th, 6th, 8th, and 10th grade in Portugal were recruited for this study. One hundred and sixty-seven children from 7 to 16 years of age participated. The Portuguese version of the printed MNREAD reading acuity chart was used to measure reading performance in these children. The non-linear mixed effects model with negative exponential decay function was used to compute maximum reading speed (MRS) and critical print size (CPS) automatically. Reading acuity (RA) and reading accessibility index (ACC) were computed manually. RESULTS: The mean MRS in words-per-minute (wpm) for the 2nd grade was 55 wpm (SD = 11.2 wpm), 104 wpm (SD = 27.9) for the 4th grade, 149 wpm (SD = 22.5) for 6th grade, 172 wpm (SD = 24.6) for 8th grade and 180 wpm for the 10th grade (SD = 16.8). There was a significant difference in MRS between school grades (p < 0.001). Participants' reading speed increased by 14.5 wpm (95% CL: 13.1-15.9) with each year of increase in age. We found a significant difference between RA and school grades, but not for CPS. CONCLUSIONS: This study provides normative reading performance values for the Portuguese version of the MNREAD chart. The MRS increased with increasing age and school grade, while RA shows initial improvement from early school years and gradually stabilizes in the more mature children. Normative values for the MNREAD test can now be used to determine reading difficulties or slow reading speed in, for example, children with impaired vision.
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Leitura , Testes Visuais , Criança , Humanos , Portugal , Acuidade Visual , AdolescenteRESUMO
BACKGROUND: This study aimed to compare brain asymmetry in patients with schizophrenia (SCZ), bipolar disorder (BPD), and healthy controls to test whether asymmetry patterns could discriminate and set boundaries between two partially overlapping severe mental disorders. METHODS: We applied a fully automated voxel-based morphometry (VBM) approach to assess structural brain hemispheric asymmetry in magnetic resonance imaging (MRI) anatomical scans in 60 participants (SCZ = 20; BP = 20; healthy controls = 20), all right-handed and matched for gender, age, and education. RESULTS: Significant differences in gray matter asymmetry were found between patients with SCZ and BPD, between SCZ patients and healthy controls (HC), and between BPD patients and HC. We found a higher asymmetry index (AI) in BPD patients when compared to SCZ in Brodmann areas 6, 11, and 37 and anterior cingulate cortex and an AI higher in SCZ patients when compared to BPD in the cerebellum. CONCLUSION: Our study found significant differences in brain asymmetry between patients with SCZ and BPD. These promising results could be translated to clinical practice, given that structural brain changes detected by MRI are good candidates for exploration as biological markers for differential diagnosis, besides helping to understand disease-specific abnormalities.
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INTRODUCTION: Persistent cloaca, defined as confluence of the rectum, the vagina and the urethra into a single common channel, has an estimated incidence of 1/50,000 live births. We describe the buccal mucosa graft vaginoplasty for a 11 year old female with cloaca, who underwent at the age of 11 months a Peña repair. We performed the vaginoplasty after the onset of uterine pain due to the beginning of menstruation. MATERIAL AND METHODS: We accessed the lower lip for superficial dissection to harvest the graft. The donor site has been kept with as much submucosal fat as possible to avoid damage to the buccinatoria muscles. A second graft was further obtained from the cheek. Both grafts were submitted to multiple small sections to produce a mesh graft and increase its size. A arciform incision anterior to the anal canal and posterior to the urethra was performed followed by consecutive dissection with eletrocautery to gain profundity. The mesh-graft was placed over the neovaginal cavity and sutured with 4.0 PDS monofilament suture used to suture and then quilt the graft in place. The vaginal capacity was confirmed by ease of a two-digit insertion. Haemostasis was confirmed before the insertion of a soft vaginal mold. The patient remained with an indwelling urinary catheter. The mold was equivalent to 24Fr and had 13 cm of profundity and Foley tube were removed after 14 days postoperatively. RESULTS: Patient had an excellent postoperative course and had been instructed to perform vaginal dilatation every 3 h during the day. Current follow up is 10 months. DISCUSSION: Buccal mucosal grafting has advantages over the use of keratinized skin flaps and intestinal flaps. Buccal mucosa is ideal for female genital reconstruction, given its color, texture, lack of hair and mild mucous production. In our particular case, we connected the neovagina after two months of adequate healing to the native 1/3 through laparoscopic approach. CONCLUSIONS: BMG vaginoplasty is a viable alternative to treat females with cloaca at adolescence.